DSCAM

Summary

DSCAM (DS cell adhesion molecule, HGNC:3039) is a protein-coding gene on chromosome 21q22.2, encoding Cell adhesion molecule DSCAM (O60469). Cell adhesion molecule that plays a role in neuronal self-avoidance.

This gene is a member of the immunoglobulin superfamily of cell adhesion molecules (Ig-CAMs), and is involved in human central and peripheral nervous system development. This gene is a candidate for Down syndrome and congenital heart disease (DSCHD). A gene encoding a similar Ig-CAM protein is located on chromosome 11. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene.

Source: NCBI Gene 1826 — RefSeq curated summary.

At a glance

• Gene–disease (curated): autism (Strong, GenCC) — +1 more curated relationship
• GWAS associations: 24
• Clinical variants (ClinVar): 362 total — 5 pathogenic, 3 likely-pathogenic (top 9% of genes corpus-wide)
• Regional missense constraint (gnomAD): 1 of 5 regions constrained (≈1% of expected missense variation)
• GTEx eGene: eQTL in 7 tissues, sQTL in 1 (q < 0.05)
• Dosage sensitivity (ClinGen): haploinsufficiency emerging evidence, triplosensitivity no evidence
• Constraint (gnomAD): pLI 1.00 (loss-of-function intolerant), LOEUF 0.28 (highly constrained)
• MANE Select transcript: NM_001389

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:3039
Approved symbol	DSCAM
Name	DS cell adhesion molecule
Location	21q22.2
Locus type	gene with protein product
Status	Approved
Aliases	CHD2-42, CHD2-52
Ensembl gene	ENSG00000171587
Ensembl biotype	protein_coding
OMIM	602523
Entrez	1826

Gene structure

Transcript identifiers

Ensembl transcripts: 3 — 3 protein_coding

MANE Select: ENST00000400454

Transcript support level (Ensembl TSL; 1 = fully mRNA-supported): TSL 1: 2, TSL 5: 1

ENST00000400454, ENST00000404019, ENST00000617870

RefSeq mRNA: 2 — MANE Select: NM_001389 NM_001271534, NM_001389

CCDS: CCDS42929

Canonical transcript exons

ENST00000400454 — 33 exons

Exon	Start	End
ENSE00001138378	40369099	40369245
ENSE00001174802	40338101	40338376
ENSE00001174805	40339119	40339415
ENSE00001174811	40347670	40347945
ENSE00001174815	40353465	40353743
ENSE00001175237	40080152	40080340
ENSE00001175244	40083908	40084006
ENSE00001175248	40085602	40085765
ENSE00001175254	40087170	40087287
ENSE00001175262	40093721	40093874
ENSE00001203412	40078687	40078977
ENSE00001203423	40124195	40124328
ENSE00001290276	40051958	40052107
ENSE00001290929	40075037	40075213
ENSE00001296378	40187131	40187259
ENSE00001297675	40296055	40296174
ENSE00001299928	40276097	40276270
ENSE00001300225	40692810	40692956
ENSE00001301674	40055725	40055840
ENSE00001301906	40187891	40187987
ENSE00001303370	40312081	40312359
ENSE00001305503	40144491	40144731
ENSE00001306377	40133854	40134009
ENSE00001317868	40044078	40044275
ENSE00001318915	40178927	40179094
ENSE00001322604	40042371	40042673
ENSE00001325865	40167218	40167288
ENSE00001327150	40142558	40142704
ENSE00001330905	40189042	40189238
ENSE00001542956	40010999	40013386
ENSE00001543045	40708454	40708771
ENSE00001543050	40846619	40847158
ENSE00002519798	40062869	40062899

Expression profiles

Bgee: expression breadth broad, 83 present calls, max score 91.32.

FANTOM5 (CAGE): breadth broad, TPM avg 2.1311 / max 127.0483, expressed in 192 samples.

Highest expression (Bgee): endometrium epithelium, cortical plate, lateral nuclear group of thalamus, buccal mucosa cell, entorhinal cortex.

Genetic regulation across tissues (GTEx eQTL / sQTL)

DSCAM is an eGene in GTEx v10 — its expression is genetically regulated (eQTL) in 7 tissues and its splicing (sQTL) in 1 (q < 0.05). Strongest associations first; slope = normalized effect of the lead variant’s alternative allele.

8 significant tissue × QTL associations:

Tissue	QTL	q-value	Slope	Lead variant
Nerve Tibial	eqtl	8.9e-94	+0.99	21:40186312:C:T
Breast Mammary Tissue	eqtl	2.8e-12	+0.37	21:40178536:A:G
Testis	eqtl	6.1e-05	+0.32	21:40552171:A:G
Brain Hippocampus	eqtl	5.1e-04	+0.21	21:40073407:T:C
Pituitary	sqtl	2.4e-03	-0.54	21:40042949:T:TA
Brain Cerebellar Hemisphere	eqtl	5.0e-03	-0.29	21:40852194:G:A
Lung	eqtl	1.1e-02	+0.25	21:40176807:C:G
Brain Cerebellum	eqtl	2.7e-02	+0.26	21:40185467:C:T

FANTOM5 promoters

9 alternative TSS:

Promoter ID	TPM avg	Samples expressed
190520	0.7204	131
190523	0.4409	116
190522	0.3803	120
190519	0.2261	99
190524	0.1083	64
190517	0.0905	47
190518	0.0807	58
190525	0.0528	26
190521	0.0311	18

Top tissues by expression

showing 100 of 266 tissues by Bgee expression score (0-100, higher = more expressed):

Tissue	Anatomy ID	Expression score	Quality
endometrium epithelium	UBERON:0004811	91.32	gold quality
cortical plate	UBERON:0005343	87.11	gold quality
lateral nuclear group of thalamus	UBERON:0002736	83.65	gold quality
buccal mucosa cell	CL:0002336	81.07	silver quality
entorhinal cortex	UBERON:0002728	79.57	gold quality
lateral globus pallidus	UBERON:0002476	78.98	gold quality
postcentral gyrus	UBERON:0002581	78.97	gold quality
Brodmann (1909) area 46	UBERON:0006483	78.59	silver quality
superior frontal gyrus	UBERON:0002661	78.24	gold quality
Brodmann (1909) area 23	UBERON:0013554	78.22	gold quality
substantia nigra pars reticulata	UBERON:0001966	78.15	silver quality
temporal lobe	UBERON:0001871	77.93	gold quality
medial globus pallidus	UBERON:0002477	77.86	gold quality
parietal lobe	UBERON:0001872	77.85	gold quality
globus pallidus	UBERON:0001875	77.61	gold quality
substantia nigra pars compacta	UBERON:0001965	77.51	silver quality
primary visual cortex	UBERON:0002436	77.46	gold quality
amygdala	UBERON:0001876	77.33	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	77.22	gold quality
prefrontal cortex	UBERON:0000451	77.18	gold quality
middle temporal gyrus	UBERON:0002771	76.92	gold quality
paraflocculus	UBERON:0005351	76.70	gold quality
middle frontal gyrus	UBERON:0002702	76.47	silver quality
cingulate cortex	UBERON:0003027	76.21	gold quality
anterior cingulate cortex	UBERON:0009835	76.09	gold quality
Ammon’s horn	UBERON:0001954	75.97	gold quality
cerebral cortex	UBERON:0000956	75.90	gold quality
neocortex	UBERON:0001950	75.84	gold quality
occipital lobe	UBERON:0002021	75.76	gold quality
frontal cortex	UBERON:0001870	75.73	gold quality
dorsal plus ventral thalamus	UBERON:0001897	75.34	silver quality
dorsolateral prefrontal cortex	UBERON:0009834	75.02	gold quality
Brodmann (1909) area 10	UBERON:0013541	74.96	silver quality
hypothalamus	UBERON:0001898	74.88	gold quality
subthalamic nucleus	UBERON:0001906	74.86	silver quality
telencephalon	UBERON:0001893	74.81	gold quality
substantia nigra	UBERON:0002038	74.53	gold quality
forebrain	UBERON:0001890	74.44	gold quality
midbrain	UBERON:0001891	74.32	gold quality
ganglionic eminence	UBERON:0004023	74.16	gold quality
cerebellar vermis	UBERON:0004720	73.67	gold quality
right frontal lobe	UBERON:0002810	73.42	gold quality
dorsal motor nucleus of vagus nerve	UBERON:0002870	73.17	gold quality
superficial temporal artery	UBERON:0001614	72.99	gold quality
brain	UBERON:0000955	72.97	gold quality
ventral tegmental area	UBERON:0002691	72.87	silver quality
endothelial cell	CL:0000115	72.86	gold quality
central nervous system	UBERON:0001017	72.83	gold quality
Brodmann (1909) area 9	UBERON:0013540	72.82	gold quality
superior vestibular nucleus	UBERON:0007227	72.28	silver quality
inferior olivary complex	UBERON:0002127	71.99	gold quality
CA1 field of hippocampus	UBERON:0003881	71.96	silver quality
inferior vagus X ganglion	UBERON:0005363	71.74	silver quality
medulla oblongata	UBERON:0001896	71.71	silver quality
corpus callosum	UBERON:0002336	71.60	gold quality
putamen	UBERON:0001874	71.48	gold quality
nucleus accumbens	UBERON:0001882	71.48	gold quality
caudate nucleus	UBERON:0001873	71.04	gold quality
triceps brachii	UBERON:0001509	70.77	gold quality
gluteal muscle	UBERON:0002000	70.68	gold quality
olfactory bulb	UBERON:0002264	70.04	gold quality
cervix squamous epithelium	UBERON:0006922	69.93	gold quality
pituitary gland	UBERON:0000007	69.88	gold quality
mucosa of paranasal sinus	UBERON:0005030	69.78	gold quality
embryo	UBERON:0000922	69.24	gold quality
tongue squamous epithelium	UBERON:0006919	68.98	gold quality
pons	UBERON:0000988	68.54	silver quality
spinal cord	UBERON:0002240	68.53	gold quality
C1 segment of cervical spinal cord	UBERON:0006469	68.51	gold quality
diaphragm	UBERON:0001103	68.46	gold quality
vena cava	UBERON:0004087	68.33	gold quality
type B pancreatic cell	CL:0000169	68.16	gold quality
adenohypophysis	UBERON:0002196	67.97	gold quality
trachea	UBERON:0003126	67.36	gold quality
saphenous vein	UBERON:0007318	66.96	gold quality
heart right ventricle	UBERON:0002080	66.84	gold quality
cardia of stomach	UBERON:0001162	66.26	gold quality
pericardium	UBERON:0002407	66.21	gold quality
germinal epithelium of ovary	UBERON:0001304	65.88	gold quality
nipple	UBERON:0002030	65.70	gold quality
tongue	UBERON:0001723	65.66	gold quality
body of tongue	UBERON:0011876	65.57	gold quality
gingival epithelium	UBERON:0001949	65.54	gold quality
pharyngeal mucosa	UBERON:0000355	65.34	gold quality
renal medulla	UBERON:0000362	65.20	gold quality
trigeminal ganglion	UBERON:0001675	65.02	gold quality
secondary oocyte	CL:0000655	65.00	silver quality
superior surface of tongue	UBERON:0007371	64.99	gold quality
pylorus	UBERON:0001166	64.98	gold quality
synovial joint	UBERON:0002217	64.58	gold quality
quadriceps femoris	UBERON:0001377	64.29	gold quality
thymus	UBERON:0002370	64.24	gold quality
islet of Langerhans	UBERON:0000006	63.94	gold quality
vastus lateralis	UBERON:0001379	63.93	gold quality
penis	UBERON:0000989	63.88	gold quality
layer of synovial tissue	UBERON:0007616	63.77	gold quality
gingiva	UBERON:0001828	63.43	gold quality
hair follicle	UBERON:0002073	63.11	gold quality
cervix epithelium	UBERON:0004801	62.68	gold quality
placenta	UBERON:0001987	61.99	gold quality

Single-cell (SCXA)

Detected in 7 experiment(s), a significant marker in 7.

Experiment	Marker?	Max mean expression
E-GEOD-180759	yes	7906.26
E-HCAD-35	yes	7055.45
E-HCAD-30	yes	6837.65
E-HCAD-25	yes	5778.33
E-GEOD-84465	yes	25.59
E-ANND-3	yes	7.00
E-GEOD-93593	yes	4.80

HPA expression

RNA tissue specificity: Group enriched

45 HPA tissues / cells by nTPM:

Tissue / cell	Axis	nTPM	Protein (IHC)
Olfactory bulb	tissue	30.6
Postcentral gyrus	tissue	26.2
Cerebral cortex	tissue	23.1	high
Occipital cortex	tissue	23.1
Somatosensory cortex	tissue	22.0
Hippocampus	tissue	20.6	medium
Hippocampal formation	tissue	20.0
Entorhinal cortex	tissue	20.0
Prefrontal cortex	tissue	19.5
Locus coeruleus	tissue	19.5
Insular cortex	tissue	19.4
Temporal cortex	tissue	19.2
Motor cortex	tissue	19.0
Retrosplenial and cingulate cortex	tissue	18.3
Retrosplenial cortex	tissue	18.1
Thalamus	tissue	17.5
Frontal cortex	tissue	17.4
Amygdala	tissue	16.7
Superior colliculi	tissue	15.8
Midbrain	tissue	14.9
Pons	tissue	14.4
Hypothalamus	tissue	13.8
Substantia nigra	tissue	12.6
Nucleus accumbens	tissue	11.9
Periaqueductal gray	tissue	10.8
Ventral forebrain	tissue	10.1
Septum	tissue	10.1
Putamen	tissue	9.8
Medulla oblongata	tissue	8.8
Basal ganglia	tissue	8.4	high
Corpus callosum	tissue	8.3
Spinal cord	tissue	7.2
Caudate putamen	tissue	7.1
Cerebellum	tissue	4.1	high
Pituitary gland	tissue	3.9
Choroid plexus	tissue	2.0
Retina	tissue	1.7
Placenta	tissue	0.7	not detected
Spleen	tissue	0.7	not detected
Epididymis	tissue	0.6	not detected
Testis	tissue	0.4	not detected
Pancreas	tissue	0.1	not detected
Liver	tissue	0.1	not detected
Colon	tissue	0.0	low
Soft tissue 1	tissue	-1.0	medium

Brain sub-regions (HPA Brain Atlas): detected in 188; highest nTPM — Posterior insular cortex (27.9), Temporo-occipital transitional zone (27.9), Parieto-insular cortex (26.7), Olfactory tubercle (26.5), Supramarginal gyrus (26.5).

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

Targeting DSCAM by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific).

showing 30 of 62 miRNAs:

miRNA	Max score	Avg score	miRNA target_count
HSA-MIR-1277-5P	100.00	73.95	5056
HSA-MIR-340-5P	100.00	72.50	4437
HSA-MIR-3120-5P	100.00	65.56	965
HSA-MIR-196A-1-3P	99.99	72.15	2772
HSA-MIR-513B-5P	99.99	69.96	2150
HSA-MIR-19A-3P	99.98	75.33	2762
HSA-MIR-19B-3P	99.98	75.44	2754
HSA-MIR-96-5P	99.95	72.80	2140
HSA-MIR-12133	99.92	71.82	2006
HSA-MIR-6809-3P	99.91	71.45	3814
HSA-MIR-1271-5P	99.91	71.99	1972
HSA-MIR-4753-3P	99.90	71.03	3786
HSA-MIR-3529-3P	99.90	73.55	3045
HSA-MIR-182-5P	99.87	74.03	2589
HSA-MIR-548AR-3P	99.85	71.26	3889
HSA-MIR-4698	99.84	71.41	4303
HSA-MIR-576-5P	99.84	70.46	2582
HSA-MIR-548AZ-3P	99.82	70.56	3549
HSA-MIR-548BC	99.82	70.61	3524
HSA-MIR-548E-3P	99.82	70.59	3514
HSA-MIR-548F-3P	99.82	70.59	3540
HSA-MIR-944	99.82	70.85	3042
HSA-MIR-6739-5P	99.80	67.87	2806
HSA-MIR-4668-5P	99.79	70.58	3782
HSA-MIR-548A-3P	99.76	70.58	3524
HSA-MIR-6733-5P	99.74	67.94	2759
HSA-MIR-4719	99.73	72.10	3329
HSA-MIR-6505-5P	99.73	69.25	1595
HSA-MIR-518A-5P	99.70	69.01	2209
HSA-MIR-527	99.70	69.01	2209

Functional genomics

gnomAD constraint: pLI 1, LOEUF 0.28, missense Z 4.45 — population loss-of-function intolerance (pLI ≥ 0.9 = LoF-intolerant; lower LOEUF = more constrained). gnomAD

Regional missense constraint (gnomAD)

ENST00000400454 splits into 5 regions with different missense tolerance; 1 is missense-constrained (≈1% of the expected missense variation). Missense variants in a constrained region (low observed/expected) are more likely to be pathogenic. gnomAD

Region (GRCh38)	Missense obs / exp	o/e	Constrained
21:40,013,037–40,013,080	5 / 16.5	0.30	yes (p 4.6e-03)
21:40,013,081–40,042,379	145 / 138.5	1.05	no
21:40,042,380–40,189,205	1144 / 1421.1	0.81	no
21:40,189,206–40,338,337	218 / 364.1	0.60	no
21:40,338,338–40,846,661	568 / 678.1	0.84	no
ClinGen dosage: haploinsufficiency 2 (emerging evidence), triplosensitivity 0 (no evidence). ClinGen Gene Dosage Map

Literature-anchored findings (GeneRIF, showing 24)

• A specific promoter region directs expression of DSCAM in the developing choroid plexus and roof of the fourth ventricle, the floor plate of the fourth ventricle, pons and medulla oblongata, and the eye, limb buds, and dorsal root ganglion (PMID:12435380)
• The specificity of Drosophila Dscam is due to complementarity of variable residues in epitope I. (PMID:17721508)
• These results suggest the possible contribution of DSCAM gene in bipolar disorder. (PMID:18197079)
• findings demonstrate an essential role of vertebrate DSCAM in axon guidance, indicating that DSCAM functions as a receptor of netrin-1 (PMID:19196994)
• Dscam transgene with or without exon 19 in its endodomain is used to govern different stage-specific neuronal morphogenetic processes, possibly due to differences in protein targeting. (PMID:19211897)
• In all transgenic retinal cell types examined, both DSCAM and DSCAM-LIKE1 genes are functioning similarly in self-avoidance, whereas the stratification of neurites and synaptic specificity are intact in their absence. (PMID:19945391)
• Dscam may be involved in the generation and development of intractable epilepsy. (PMID:21360594)
• functionally conserved with Drosophila Dscam[TM1] isoforms (PMID:21645617)
• knockdown of DSCAM inhibits netrin-induced tyrosine phosphorylation of UNC5C and Fyn as well as the interaction of UNC5C with Fyn. The double knockdown of both receptors abolishes the induction of Fyn tyrosine phosphorylation by netrin-1 (PMID:22685302)
• Overall, our study found a significant association of IL-17RC gene polymorphisms with AIS in a Chinese Han population, indicating IL-17RC gene may be as a susceptibility gene for AIS. (PMID:22744455)
• Down syndrome cell adhesion molecule interacts with PRKAG1 subunit and plays an important role in netrin-1 induced neurite outgrowth. (PMID:23479427)
• DSCAM as a Hirschsprung disease (HSCR) susceptibility locus, both in Down syndrome and HSCR isolated cases. (PMID:23671607)
• Our study did not repeatedly confirm the association of the rs2222973 or the rs11770843 SNP with adolescent idiopathic scoliosis in a Chinese Han population. (PMID:25408124)
• DSCAM physically interacts with tubulin folding cofactor D. (PMID:25653356)
• The most significant was DSCAM, a neurological gene expressed widely in the developing brain and in the amygdala and hippocampus of the adult brain. (PMID:25867994)
• There is an association between DSCAM polymorphisms and non-syndromic HSCR in South Chinese population. (PMID:30005639)
• Genome wide analysis identified DSCAM as a new imprinted gene in the human placenta. (PMID:30206355)
• We further show that introns drive selection of both proximal and distal variable exons. Since exon 4 cluster introns lack conserved sequences that could mediate robust long-range base-pairing to bring exons into proximity for splicing, our data argue for a central role of introns in mutually exclusive alternative splicing of Dscam exon 4 cluster (PMID:30541104)
• Long non-coding RNA DSCAM-AS1 contributes to the tumorigenesis of cervical cancer by targeting miR-877-5p/ATXN7L3 axis. (PMID:31737900)
• DSCAM/PAK1 pathway suppression reverses neurogenesis deficits in iPSC-derived cerebral organoids from patients with Down syndrome. (PMID:33945512)
• Dysfunction of NMDA receptors in neuronal models of an autism spectrum disorder patient with a DSCAM mutation and in Dscam-knockout mice. (PMID:34253863)
• Long non-coding RNA Down syndrome cell adhesion molecule-anti-sense 1 promotes gastric carcinoma cell proliferation and migration by regulating the miR-204/TPT1 axis. (PMID:34372727)
• Role of DSCAM in the Development of Neural Control of Movement and Locomotion. (PMID:34445216)
• Increased endothelial sclerostin caused by elevated DSCAM mediates multiple trisomy 21 phenotypes. (PMID:38828726)

Cross-species orthologs

4 orthologs

Organism	Symbol	Gene ID
danio_rerio	dscama	ENSDARG00000024865
danio_rerio	dscamb	ENSDARG00000028118
mus_musculus	Dscam	ENSMUSG00000050272
rattus_norvegicus	Dscam	ENSRNOG00000027992

Paralogs (36): CNTN1 (ENSG00000018236), CDON (ENSG00000064309), NEO1 (ENSG00000067141), SDK2 (ENSG00000069188), IGSF9B (ENSG00000080854), IGSF9 (ENSG00000085552), NRCAM (ENSG00000091129), MXRA5 (ENSG00000101825), IGDCC4 (ENSG00000103742), CNTN3 (ENSG00000113805), IGSF21 (ENSG00000117154), CNTN6 (ENSG00000134115), CHL1 (ENSG00000134121), PTPRQ (ENSG00000139304), CNTN4 (ENSG00000144619), BOC (ENSG00000144857), SDK1 (ENSG00000146555), HMCN2 (ENSG00000148357), NCAM1 (ENSG00000149294), CNTN5 (ENSG00000149972), IGSF10 (ENSG00000152580), ROBO4 (ENSG00000154133), ROBO3 (ENSG00000154134), NCAM2 (ENSG00000154654), VCAM1 (ENSG00000162692), NFASC (ENSG00000163531), PRTG (ENSG00000166450), ROBO1 (ENSG00000169855), IGDCC3 (ENSG00000174498), VSIG10 (ENSG00000176834), DSCAML1 (ENSG00000177103), CNTN2 (ENSG00000184144), ROBO2 (ENSG00000185008), VSIG10L (ENSG00000186806), DCC (ENSG00000187323), L1CAM (ENSG00000198910)

Mouse-model phenotypes

Observed phenotypes of the mouse ortholog (MGI:1196281) from MGI (Alliance of Genome Resources) — knockout/mutant phenotypes, ranked by annotation count. 70 distinct phenotype terms.

Mouse phenotype (MP)	Records
abnormal amacrine cell morphology	4
kyphosis	3
domed cranium	3
abnormal retina morphology	3
impaired coordination	2
hydrocephaly	2
abnormal retina ganglion layer morphology	2
abnormal retina ganglion cell morphology	2
disorganized retina ganglion layer	2
enlarged lateral ventricles	2
neonatal lethality, incomplete penetrance	2
small ears	1
abnormal corpus callosum morphology	1
abnormal cerebral cortex morphology	1
abnormal hippocampus morphology	1
abnormal brain ventricle morphology	1
abnormal lateral ventricle morphology	1
dilated third ventricle	1
abnormal cerebellar foliation	1
delayed eyelid opening	1
retina hyperplasia	1
abnormal gait	1
abnormal posture	1
trunk curl	1
impaired swimming	1

+45 more (showing top 25).

Additional cross-species homologs

Sequence homologs in species beyond Ensembl Compara’s model organisms, by Diamond local protein alignment (% sequence identity; best hit per species). Lower-identity rows are more distant homologs. The matched accessions’ gene symbols aren’t in biobtree yet, so each row shows the UniProt accession.

Organism	UniProt	Identity	Method
Pongo abelii	Q5RDJ4	99.8%	Diamond
Macaca fascicularis	Q9N008	99.8%	Diamond
Gallus gallus	F1NY98	94.4%	Diamond
Caenorhabditis briggsae	A8WQH2	87.3%	Diamond
Caenorhabditis elegans	Q1ENI8	87.3%	Diamond
Xenopus tropicalis	A4IIW9	81.5%	Diamond
Drosophila melanogaster	Q9VS29	40.2%	Diamond

Genomic neighbors (locus context)

Genes flanking this one on the chromosome (NCBI/Entrez gene neighborhood). Positional context only — some neighbors share regulatory elements (bidirectional promoters, antisense/overlapping transcripts), but chromosomal adjacency is not itself a functional relationship (see Interactions for that).

Symbol	Type	Entrez
MIR4760	ncRNA	100616148
PCP4	protein-coding	5121
DSCAM-AS1	ncRNA	100506492
IGSF5	protein-coding	150084
MIR3197	ncRNA	100423023
DSCAM-IT1	ncRNA	100874326
LINC00323	ncRNA	284835
B3GALT5	protein-coding	10317
PLAC4	ncRNA	191585
BACE2	protein-coding	25825
B3GALT5-AS1	ncRNA	114041

Protein

Protein identifiers

Cell adhesion molecule DSCAM — O60469 (reviewed: O60469)

Alternative names: CHD2, Down syndrome cell adhesion molecule

All UniProt accessions (3): O60469, A0A087WUI7, Q8WY19

UniProt curated annotations — full annotation on UniProt →

Function. Cell adhesion molecule that plays a role in neuronal self-avoidance. Promotes repulsion between specific neuronal processes of either the same cell or the same subtype of cells. Mediates within retinal amacrine and ganglion cell subtypes both isoneuronal self-avoidance for creating an orderly dendritic arborization and heteroneuronal self-avoidance to maintain the mosaic spacing between amacrine and ganglion cell bodies. Receptor for netrin required for axon guidance independently of and in collaboration with the receptor DCC. Might also collaborate with UNC5C in NTN1-mediated axon repulsion independently of DCC. In spinal cord development plays a role in guiding commissural axons projection and pathfinding across the ventral midline to reach the floor plate upon ligand binding. Mediates intracellular signaling by stimulating the activation of MAPK8 and MAP kinase p38. Adhesion molecule that promotes lamina-specific synaptic connections in the retina: expressed in specific subsets of interneurons and retinal ganglion cells (RGCs) and promotes synaptic connectivity via homophilic interactions.

Subunit / interactions. Homodimer; mediates homophilic interactions to promote cell adhesion. Interacts with DCC; the interaction is abolished in response to NTN1. Interacts (via extracellular domain) with NTN1. Interacts (via extracellular domain) with UNC5C (via Ig-like C2-type domain). Interacts with PTK2. Interacts with FYN.

Subcellular location. Secreted Cell membrane. Cell projection. Axon. Dendrite. Growth cone. Synapse.

Tissue specificity. Primarily expressed in brain.

Post-translational modifications. Phosphorylated at tyrosine residues. Phosphorylation is enhanced by NTN1.

Domain organisation. Ig-like C2-type domains 7 to 9 are sufficient for interaction with NTN1 and commissural axon outgrowth. The transmembrane domain is necessary for interaction with DCC.

Isoforms (2)

UniProt ID	Names	Canonical?
O60469-1	Long, CHD2-42	yes
O60469-2	Short, CHD2-52

RefSeq proteins (2): NP_001258463, NP_001380* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR003598	Ig_sub2	Domain
IPR003599	Ig_sub	Domain
IPR003961	FN3_dom	Domain
IPR007110	Ig-like_dom	Domain
IPR013098	Ig_I-set	Domain
IPR013106	Ig_V-set	Domain
IPR013783	Ig-like_fold	Homologous_superfamily
IPR036116	FN3_sf	Homologous_superfamily
IPR036179	Ig-like_dom_sf	Homologous_superfamily
IPR056754	DSCAM/DSCAML_C	Domain

Pfam: PF00041, PF07679, PF13927, PF25059

UniProt features (91 total): strand 24, glycosylation site 18, domain 16, disulfide bond 10, helix 8, region of interest 4, topological domain 2, compositionally biased region 2, splice variant 2, signal peptide 1, chain 1, transmembrane region 1, sequence variant 1, sequence conflict 1

Structure

Experimental structures (PDB)

1 structures by resolution:

PDB	Title	Method	Resolution (Å)
6ZR7	X-ray structure of human Dscam Ig7-Ig9	X-RAY DIFFRACTION	1.85

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-O60469-F1	69.98	0.06

Human Protein Atlas

Protein class: Predicted membrane proteins, Plasma proteins

Protein evidence: Evidence at protein level

Subcellular location (HPA, imaging): golgi apparatus; cytosol

Antibody reliability (HPA): IH enhanced · IF approved

Functional residue map

Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.

Disulfide bonds (10)

Type	Positions
Disulfide bond	46–102, 145–197, 246–293, 335–385, 428–484, 525–575, 617–669, 711–766, 809–865, 1307–1359

Glycosylation sites (18)

Type	Positions
N-linked (glcnac…) asparagine	28, 78, 470, 487, 512, 556, 658, 666, 710, 748, 795, 924, 1142, 1160, 1250, 1271, 1341, 1488

Function

Pathways and Gene Ontology

Reactome pathways

0 curated (TAS) of 5; 0 disease pathways. Curated-first; evidence = TAS (manually curated) vs IEA (electronic inference).

5 pathways:

ID	Pathway	Evidence
R-HSA-422475	Axon guidance	—
R-HSA-376172	DSCAM interactions	electronic
R-HSA-1266738	Developmental Biology	—
R-HSA-9675108	Nervous system development	—
R-HSA-373752	Netrin-1 signaling	—

MSigDB gene sets: 289 (showing top): GOBP_DENDRITE_DEVELOPMENT, GOBP_NEURON_RECOGNITION, GOBP_BEHAVIOR, GOBP_NEURON_PROJECTION_EXTENSION, GOBP_REGULATION_OF_PHOSPHORYLATION, GOBP_SYNAPSE_ASSEMBLY, GOBP_REGULATION_OF_DEVELOPMENTAL_GROWTH, AAGTCCA_MIR422B_MIR422A, GOBP_NEURON_PROJECTION_EXTENSION_INVOLVED_IN_NEURON_PROJECTION_GUIDANCE, AREB6_03, GOZGIT_ESR1_TARGETS_DN, GOBP_DENDRITIC_SPINE_DEVELOPMENT, GOBP_GROWTH, KYNG_DNA_DAMAGE_DN, GOBP_NEUROGENESIS

GO Biological Process (13): cell adhesion (GO:0007155), homophilic cell-cell adhesion (GO:0007156), negative regulation of cell adhesion (GO:0007162), nervous system development (GO:0007399), axon guidance (GO:0007411), synapse assembly (GO:0007416), central nervous system development (GO:0007417), retina layer formation (GO:0010842), positive regulation of phosphorylation (GO:0042327), positive regulation of axon extension involved in axon guidance (GO:0048842), camera-type eye photoreceptor cell differentiation (GO:0060219), dendrite self-avoidance (GO:0070593), netrin-activated signaling pathway (GO:0038007)

GO Molecular Function (4): cell-cell adhesion mediator activity (GO:0098632), protein tyrosine kinase binding (GO:1990782), netrin receptor binding (GO:1990890), protein binding (GO:0005515)

GO Cellular Component (8): extracellular region (GO:0005576), plasma membrane (GO:0005886), membrane (GO:0016020), axon (GO:0030424), dendrite (GO:0030425), growth cone (GO:0030426), neuronal cell body (GO:0043025), synapse (GO:0045202)

Reactome top-level categories

4 top-level categories:

Category	Pathways
Netrin-1 signaling	1
Axon guidance	1
Nervous system development	1
Developmental Biology	1

GO top-level categories

40 GO namespaces:

Category	Terms
cell-cell adhesion	2
system development	2
animal gross anatomical part developmental process	2
nervous system development	2
neural retina development	2
retina morphogenesis in camera-type eye	2
cellular anatomical structure	2
neuron projection	2
cellular process	1
cell adhesion	1
regulation of cell adhesion	1
negative regulation of cellular process	1
axonogenesis	1
neuron projection guidance	1
cell junction assembly	1
synapse organization	1
anatomical structure formation involved in morphogenesis	1
phosphorylation	1
regulation of phosphorylation	1
positive regulation of phosphate metabolic process	1
positive regulation of axon extension	1
regulation of axon extension involved in axon guidance	1
axon extension involved in axon guidance	1
positive regulation of chemotaxis	1
eye photoreceptor cell differentiation	1
neuron recognition	1
cell surface receptor signaling pathway	1
cell adhesion mediator activity	1
protein kinase binding	1
signaling receptor binding	1
netrin-activated signaling pathway	1
binding	1
membrane	1
cell periphery	1
dendritic tree	1
site of polarized growth	1
distal axon	1
somatodendritic compartment	1
cell body	1
cell junction	1

Experimentally-supported GO annotations

GO terms backed by direct experimental evidence (ECO experimental codes) — 3 of 25 annotations. The rest are phylogenetic / computational / electronic (IEA).

3 experimentally-supported GO terms:

GO term	NS	Evidence
positive regulation of axon extension involved in axon guidance	BP	direct assay
positive regulation of phosphorylation	BP	direct assay
netrin receptor binding	MF	physical interaction

Protein interactions and networks

STRING

showing 15 of 1,612 interactions by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
DSCAM	NTN1	O95631	804
DSCAM	UNC5B	Q8IZJ1	789
DSCAM	NTN4	Q9HB63	774
DSCAM	UNC5A	Q6ZN44	615
DSCAM	PFKL	P17858	591
DSCAM	UNC5C	O95185	560
DSCAM	ALOX12	P18054	551
DSCAM	NLGN2	Q8NFZ4	522
DSCAM	PCDH11X	Q9BZA7	520
DSCAM	ADORA2B	P29275	504
DSCAM	NRXN1	Q9ULB1	499
DSCAM	SEMA6A	Q9H2E6	498
DSCAM	DYRK1A	Q13627	497
DSCAM	CPA1	P15085	495
DSCAM	DRAXIN	Q8NBI3	493

IntAct

Human interaction partners of DSCAM in IntAct, one row per partner (best MIscore; records = supporting IntAct interaction records).

showing 30 of 164 partners by confidence:

Partner	Interaction type	MIscore	Records
PIH1D2	physical association	0.560	3
PSG7	physical association	0.540	3
PSG9	physical association	0.540	2
PTPRM	physical association	0.540	2
PTPRT	physical association	0.540	2
DLG2	physical association	0.490	3
NOTCH3	physical association	0.400	1
PSG4	physical association	0.400	1
PSG6	physical association	0.400	1
PTPRK	physical association	0.400	1
TNFRSF8	physical association	0.400	1
DLG1	physical association	0.370	3
AFDN	physical association	0.000	2
DYRK1A	physical association	0.000	2
PDE4DIP	physical association	0.000	2
ACO1	physical association	0.000	1
ACTN1	physical association	0.000	1
ACTN4	physical association	0.000	1
AMOTL2	physical association	0.000	1
AP2A1	physical association	0.000	1
AP2B1	physical association	0.000	1
APC2	physical association	0.000	1
ARCN1	physical association	0.000	1
ARIH2	physical association	0.000	1
ASTN1	physical association	0.000	1
ATP5F1B	physical association	0.000	1
ATRX	physical association	0.000	1
BFSP1	physical association	0.000	1
BICD1	physical association	0.000	1
BTBD1	physical association	0.000	1

BioGRID (171 interactions; top human partners by supporting records): DYRK1A (Two-hybrid; 2 records), ACO1 (Two-hybrid), ACTN1 (Two-hybrid), ACTN4 (Two-hybrid), AGO2 (Affinity Capture-RNA), AMOTL2 (Two-hybrid), AP2A1 (Two-hybrid), AP2B1 (Two-hybrid), APC2 (Two-hybrid), AQR (Affinity Capture-MS), ARCN1 (Two-hybrid), ARIH2 (Two-hybrid), ARL8B (Proximity Label-MS), ASTN1 (Two-hybrid), ATP2B1 (Affinity Capture-MS)

SIGNOR signaling

showing 9 of 10 signaling interactions:

A	Effect	B	Mechanism
gamma-secretase	“down-regulates quantity”	DSCAM	cleavage
IPO5	“up-regulates activity”	DSCAM	relocalization
DSCAM	down-regulates	Neurite_outgrowth
DSCAM	“up-regulates activity”	STAT3	binding
DSCAM	“up-regulates activity”	SH2D2A	binding
DSCAM	down-regulates	Synaptic_plasticity
Netrin	“up-regulates activity”	DSCAM	binding
NTN1	“up-regulates activity”	DSCAM	binding
DSCAM	up-regulates	Axonal_growth_cone_formation

Ligand–receptor pairs (CellPhoneDB) (1)

Curated ligand–receptor partners (cell-cell communication), distinct from the protein–protein interactions above.

1 ligand–receptor pairs:

Partner	This gene’s role	Signaling class
NTN1	receptor	Signaling by Netrin

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 164 IntAct physical interaction partners (hypergeometric vs the genome-wide background, BH-FDR, gene-set size 15–500, ranked by fold). A functional readout of the neighbourhood — distinct from this gene’s own memberships above, and biased toward well-studied / hub proteins, so read it as themes rather than proof.

Reactome pathways:

Pathway	Partners	Fold	FDR
Nephrin family interactions	6	22.8×	1e-04
Ras activation upon Ca2+ influx through NMDA receptor	5	22.8×	4e-04
Unblocking of NMDA receptors, glutamate binding and activation	5	21.8×	4e-04
Negative regulation of NMDA receptor-mediated neuronal transmission	5	21.8×	4e-04
Long-term potentiation	5	19.0×	6e-04
RHOV GTPase cycle	6	13.7×	6e-04
RHOU GTPase cycle	5	11.1×	5e-03
Intra-Golgi traffic	5	10.4×	7e-03

GO biological processes:

GO term	Partners	Fold	FDR
positive regulation of axon extension	5	15.9×	8e-03
nervous system development	17	4.8×	1e-04

Disease & clinical

Genetic variants

Variant evidence for DSCAM: 362 ClinVar records (8 pathogenic / likely pathogenic); 1 PharmGKB clinical annotation; 24 GWAS associations. Per-variant detail is on Sugi Variant.

ClinVar

362 variants total. Per-class counts are floors (≥ shown; pagination cap):

Classification	Count (floor)
Pathogenic	5
Likely pathogenic	3
Uncertain significance	235
Likely benign	82
Benign	17

Top pathogenic / likely-pathogenic (8)

Showing all 8 pathogenic / likely-pathogenic ClinVar records, ranked by ClinVar review status (expert panel → multiple submitters → single submitter), then by number of submitting labs.

Variant ID	HGVS	Classification	Review	Submitters
521597	NM_001389.5(DSCAM):c.5260C>T (p.Arg1754Ter)	Pathogenic	criteria provided, single submitter	1
986263	NM_001389.5(DSCAM):c.3276del (p.Glu1093fs)	Pathogenic	criteria provided, single submitter	1
4244940	NM_001389.5(DSCAM):c.1848_1849del (p.Val618fs)	Pathogenic	criteria provided, single submitter	1
4840129	NM_001389.5(DSCAM):c.3617_3618del (p.Phe1206fs)	Pathogenic	criteria provided, single submitter	1
4876685	NM_001389.5(DSCAM):c.5014A>T (p.Arg1672Ter)	Pathogenic	criteria provided, single submitter	1
1098395	NM_001389.5(DSCAM):c.4216G>A (p.Gly1406Ser)	Likely pathogenic	criteria provided, single submitter	1
599423	NM_001389.5(DSCAM):c.2363C>T (p.Ala788Val)	Likely pathogenic	no assertion criteria provided	1
3061432	NM_001389.5(DSCAM):c.750del (p.His251fs)	Likely pathogenic	no assertion criteria provided	1

Per-variant reference — Sugi Variant

Explore DSCAM’s pathogenic and likely-pathogenic variants individually — each with its ClinVar classification and conditions, applied ACMG criteria (ClinGen expert panel, where curated), the calibrated in-silico predictors (AlphaMissense, REVEL, SaProt, conservation), gnomAD frequency, and the predictor-disagreement QC signal — on Sugi Variant.

SpliceAI

Top 10 splice-impact sites by Δscore (adjacent positions with the same effect merged into one range; 40 predictions of 5,098):

Position(s)	Effect	Δscore	Sites
21:40042369–40042370	donor_loss	1.0000	5
21:40045485	donor_gain	1.0000
21:40055723–40055724	donor_loss	1.0000	5
21:40055841–40055842	acceptor_loss	1.0000	6
21:40080341–40080342	acceptor_loss	1.0000	5
21:40084007–40084008	acceptor_loss	1.0000	6
21:40085775	acceptor_gain	1.0000
21:40093875–40093876	acceptor_loss	1.0000	6
21:40179105	acceptor_gain	1.0000
21:40189239–40189240	acceptor_loss	1.0000	4

AlphaMissense

4,469 missense substitutions predicted likely pathogenic (of 13,155 scored), across 1,299 residues. Top 20 hotspot residues, ranked by the number of likely-pathogenic substitutions (of those reachable by a single-nucleotide change), then by mean score:

Residue	Likely-pathogenic substitutions	Mean am_pathogenicity	Max am_pathogenicity
D1353	8	0.986	0.998
D760	8	0.984	0.996
D859	8	0.983	0.995
N964	8	0.981	0.998
N1455	8	0.980	0.999
D190	8	0.978	0.996
D569	8	0.975	0.993
N673	8	0.975	0.999
D287	8	0.968	0.995
N869	8	0.967	1.000
N1363	8	0.967	0.998
F143	8	0.957	0.999
N1068	8	0.941	0.997
F1563	8	0.940	0.997
N297	8	0.936	0.998
N488	8	0.935	0.999
D478	8	0.934	0.988
F413	8	0.933	0.992
N770	8	0.929	0.998
F36	8	0.926	0.994

HPA cancer prognostics

RNA cancer specificity: Cancer enriched (Glioblastoma Multiforme)

Disease associations

OMIM: gene MIM:602523 | disease phenotypes: MIM:142623

GenCC curated gene-disease

2 curated gene-disease records:

Disease	Classification	Inheritance	Records
autism	Strong	Autosomal dominant
autism spectrum disorder	Moderate	Autosomal dominant

Mondo (3): autism spectrum disorder (MONDO:0005258), Hirschsprung disease (MONDO:0018309), autism (MONDO:0005260)

Orphanet (2): Hirschsprung disease (Orphanet:388), NON RARE IN EUROPE: Autism (Orphanet:106)

GWAS associations

24 associations:

Study	Trait	p-value
GCST90013407_160	Liver enzyme levels (gamma-glutamyl transferase)	6e-18
GCST007354_2	Intracranial aneurysm	4e-14
GCST012490_482	Femur bone mineral density x serum urate levels interaction	9e-10
GCST008144_7	Fasting plasma glucose	3e-9
GCST010988_204	Adult body size	5e-9
GCST006948_2	Feeling nervous	1e-8
GCST90007528_2	Low hand grip strength (60 years and older) (EWGSOP)	1e-8
GCST007708_14	Worry/vulnerability (special factor of neuroticism)	2e-8
GCST010002_376	Refractive error	5e-8
GCST008889_4	Systemising	2e-7
GCST002202_8	Anxiety in major depressive disorder	3e-7
GCST008394_1	Mild to moderate chronic kidney disease	3e-7
GCST001762_719	Obesity-related traits	9e-7
GCST001059_16	Neutrophil count	1e-6
GCST002198_23	Tuberculosis	2e-6
GCST008181_17	Spontaneous preterm birth without premature rupture of membranes	2e-6
GCST010396_251	Gut microbiota (bacterial taxa, hurdle binary method)	2e-6
GCST001762_92	Obesity-related traits	3e-6
GCST009846_17	Hallux valgus	3e-6
GCST000871_2	Non-small cell lung cancer (survival)	4e-6
GCST006585_1853	Blood protein levels	5e-6
GCST012309_11	Schizophrenia	6e-6
GCST012310_3	Schizophrenia x sex interaction	7e-6
GCST90006990_15	Gut microbiota relative abundance (Prevotella)	7e-6

EFO canonical traits (from GWAS)

11 canonical traits:

EFO ID	Trait name
EFO:0004833	neutrophil count
EFO:0005108	arm span
EFO:0009597	feeling nervous measurement
EFO:0009589	worry measurement
EFO:0006917	spontaneous preterm birth
EFO:0010221	systemising measurement
EFO:0007874	gut microbiome measurement
EFO:0008343	sex interaction measurement
EFO:0004531	urate measurement
EFO:0006941	grip strength measurement
EFO:0004532	serum gamma-glutamyl transferase measurement

MeSH disease descriptors

2 disease descriptors:

Descriptor	Name	Tree numbers
D001321	Autistic Disorder	F03.625.164.113.500
D006627	Hirschsprung Disease	C06.198.439; C06.405.469.158.701.439; C16.131.314.439

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

PharmGKB: 1 entry (CPIC guideline: no)

PharmGKB clinical annotations

1 annotations by evidence level (1 strongest → 4):

Variant	Association	Level	Drugs	Phenotypes
rs9981861	Efficacy	3	carboplatin;paclitaxel	Neoplasms;Non-Small Cell Lung Carcinoma

PharmGKB variants

1 variants:

Variant	Genes	Level	Score	#Clin annots	Drugs
rs9981861	DSCAM	3	0.00	1	carboplatin;paclitaxel

PharmGKB variant annotations

Per-publication pharmacogenomic findings for this gene (significant associations).

1 published findings:

Variant	Drug(s)	Category	Finding	PMID
rs9981861	carboplatin, paclitaxel	Efficacy	Genotype TT is associated with decreased survival when treated with carboplatin and paclitaxel in people with Carcinoma, Non-Small-Cell Lung as compared to genotypes CC + CT.	PMID:21079520

CTD chemical–gene interactions

13 total (human), top 13 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
sodium arsenite	affects methylation, increases expression	2
Aflatoxin B1	decreases methylation	2
Cadmium Chloride	increases expression	2
bisphenol A	decreases methylation	1
benzo(e)pyrene	increases methylation	1
aflatoxin B2	increases methylation	1
CGP 52608	affects binding, increases reaction	1
MRK 003	increases expression	1
Benzo(a)pyrene	decreases methylation	1
Estradiol	affects cotreatment, increases expression	1
Methapyrilene	increases methylation	1
Phthalic Acids	increases methylation	1
Asbestos, Serpentine	decreases methylation	1

Cellosaurus cell lines

1 cell lines: 1 induced pluripotent stem cell

First 10 cell lines (id-ordered, not curated):

Cellosaurus	Name	Category	Sex
CVCL_B5NA	PGPC1_73	Induced pluripotent stem cell	Female

Clinical trials (associated diseases)

Via MONDO — disease-level, not drug-specific.

showing 60 of 391 trials:

NCT	Phase	Status	Title
NCT00391261	Phase 4	COMPLETED	An Open-label Trial of Metformin for Weight Control of Pediatric Patients on Antipsychotic Medications.
NCT01028820	Phase 4	COMPLETED	FMRI Brain Activation of Aripiprazole Treatment in Autism Spectrum Disorders
NCT01333865	Phase 4	COMPLETED	A Study of Memantine Hydrochloride (Namenda®) for Cognitive and Behavioral Impairment in Adults With Autism Spectrum Disorders
NCT01337700	Phase 4	COMPLETED	Milnacipran in Autism and the Functional Locus Coeruleus and Noradrenergic Model of Autism
NCT01695200	Phase 4	COMPLETED	Omega-3 Fatty Acids in Autism Spectrum Disorders
NCT02096952	Phase 4	COMPLETED	Methylphenidate ER Liquid Formulation in Adults With ASD and ADHD
NCT02235467	Phase 4	COMPLETED	Multisite Study: Parental Training Using Video Modelling to Develop Social Skills in Children With Autism
NCT02940574	Phase 4	COMPLETED	Neural and Behavioral Effects of Oxytocin in Autism Spectrum Disorders
NCT03333629	Phase 4	COMPLETED	Promoting Positive Outcomes for Individuals With ASD: Linking Early Detection, Treatment, and Long-term Outcomes
NCT03337646	Phase 4	COMPLETED	Evaluation of the Effect and Safety of Lisdexamfetamine in Children Aged 6-12 With ADHD and Autism
NCT03538431	Phase 4	COMPLETED	Improving Driving in Young People With Autism Spectrum Disorders
NCT03757585	Phase 4	COMPLETED	Natural Treatments for the Management of Emotional Dysregulation in Youth With Non-verbal Learning Disability (NVLD) and/or Autism Spectrum Disorders (ASD)
NCT04903353	Phase 4	COMPLETED	Pragmatic Trial Comparing Weight Gain in Children With Autism Taking Risperidone Versus Aripiprazole
NCT05063656	Phase 4	COMPLETED	Biomarker-Driven Pharmacological Treatment of Adolescents With Autism Spectrum Disorder With Gabapentin
NCT05146245	Phase 4	UNKNOWN	Safety and Pharmacokinetics of Antipsychotics in Children 2: Studying TDM in an RCT
NCT05916339	Phase 4	RECRUITING	AWARE: Management of ADHD in Autism Spectrum Disorder
NCT05954052	Phase 4	TERMINATED	A Study of Glutathione in Children With Autism Spectrum Disorder
NCT06853665	Phase 4	RECRUITING	The TEAM Study - Treatment Efficacy for Autism/Attention Using Mixed Amphetamine
NCT07054697	Phase 4	COMPLETED	Pilot-RCT With Individualized Homeopathic Treatment in the Children With Autism Spectrum Disorder
NCT07161804	Phase 4	COMPLETED	Pilot RCT Using Homeopathic Medicines in ASD
NCT07439042	Phase 4	RECRUITING	Buspirone for Anxiety in Autistic Youth
NCT07770152	Phase 4	NOT_YET_RECRUITING	Semaglutide in Youth With Autism Spectrum Disorder
NCT00211796	Phase 4	COMPLETED	Divalproex Sodium ER in Adult Autism
NCT00409747	Phase 4	COMPLETED	Minocycline to Treat Childhood Regressive Autism
NCT00576732	Phase 4	COMPLETED	A Study of the Effectiveness and Safety of Two Doses of Risperidone in the Treatment of Children and Adolescents With Autistic Disorder
NCT00844753	Phase 4	COMPLETED	Atomoxetine, Placebo and Parent Management Training in Autism
NCT01098383	Phase 4	UNKNOWN	Treatment With Acetyl-Choline Esterase Inhibitors in Children With Autism Spectrum Disorders
NCT02069977	Phase 4	UNKNOWN	Study to Evaluate the Efficacy and Safety of Aripiprazole
NCT02199925	Phase 4	UNKNOWN	An Open-Label Study to Evaluate the Efficacy of High-Dose Gammaplex in Children on the Autism Spectrum
NCT02255565	Phase 4	COMPLETED	Dose Response Effects of Quillivant XR in Children With ADHD and Autism: A Pilot Study
NCT01302964	Phase 3	COMPLETED	Mirtazapine Treatment of Anxiety in Children and Adolescents With Pervasive Developmental Disorders
NCT01706523	Phase 3	TERMINATED	Open Label Extension Study of STX209 (Arbaclofen) in Autism Spectrum Disorders
NCT01825798	Phase 3	COMPLETED	Treatment of Overweight Induced by Antipsychotic Medication in Young People With Autism Spectrum Disorders (ASD)
NCT01972074	Phase 3	COMPLETED	Behavioral and Neural Response to Memantine in Adolescents With Autism Spectrum Disorder
NCT02985749	Phase 3	COMPLETED	A Study of Oxytocin for the Treatment of Social Impairment in Individuals With High Functioning Autism Spectrum Disorder
NCT03197922	Phase 3	COMPLETED	Treatment of Encopresis in Children With Autism Spectrum Disorders
NCT03504917	Phase 3	TERMINATED	A Study of Balovaptan in Adults With Autism Spectrum Disorder With a 2-Year Open-Label Extension
NCT03553875	Phase 3	TERMINATED	Memantine for the Treatment of Social Deficits in Youth With Disorders of Impaired Social Interactions
NCT03640156	Phase 3	COMPLETED	Modulating Socially Adaptive Mirror System Functioning in Autism by Oxytocin
NCT03715153	Phase 3	TERMINATED	Efficacy and Safety of Bumetanide Oral Liquid Formulation in Children Aged From 2 to Less Than 7 Years Old With Autism Spectrum Disorder.
NCT03715166	Phase 3	TERMINATED	Efficacy and Safety of Bumetanide Oral Liquid Formulation in Children and Adolescents Aged From 7 to Less Than 18 Years Old With Autism Spectrum Disorder
NCT04233502	Phase 3	WITHDRAWN	Efficacy and Safety of Slenyto for Insomnia in Children With ASD
NCT04578756	Phase 3	COMPLETED	Open-Label, Flexible-dose Study to Evaluate the Long-Term Safety and Tolerability of Cariprazine in the Treatment of Pediatric Participants With Schizophrenia, Bipolar I Disorder, or Autism Spectrum Disorder
NCT04623398	Phase 3	COMPLETED	Effect of Lithium in Patients With Autism Spectrum Disorder and Phelan-McDermid Syndrome (SHANK3 Haploinsufficiency)
NCT04725383	Phase 3	TERMINATED	Amitriptyline for Repetitive Behaviors in Autism Spectrum Disorders
NCT05212493	Phase 3	COMPLETED	The Effects of Medical Cannabis in Children With Autistic Spectrum Disorder
NCT05361707	Phase 3	UNKNOWN	Evaluating the Effects of Tasimelteon in Individuals With Autism Spectrum Disorder (ASD) and Sleep Disturbances
NCT05439616	Phase 3	COMPLETED	Study of Cariprazine Oral Capsules or Solution to Assess Adverse Events and Change in Irritability Due to Autism Spectrum Disorder (ASD) in Participants Aged 5-17 Years With ASD
NCT06229210	Phase 3	RECRUITING	Safety and Tolerability Trial of Lumateperone in Pediatric Patients With Schizophrenia, Bipolar Disorder or Autism Spectrum Disorder
NCT06333964	Phase 3	COMPLETED	A Study to Evaluate the Efficacy and Safety of AST-001 in ASD Children
NCT07257939	Phase 3	NOT_YET_RECRUITING	NTI164 in Autism Spectrum Disorder
NCT07655115	Phase 3	RECRUITING	Single Dose Double-blind, Placebo-controlled Cross-over (SDDBPCCO) Shiftability Study, Will be Followed by a 10-week Open-label Study With Arbaclofen (4 Weeks of Titration and Then 6 Weeks of Active/Stable Treatment). The Effects of Arbaclofen on Target EEG and ERG Metrics Will be Associated With th
NCT00036231	Phase 3	TERMINATED	Synthetic Human Secretin in Children With Autism and Gastrointestinal Dysfunction
NCT00036244	Phase 3	COMPLETED	Synthetic Human Secretin in Children With Autism
NCT00065884	Phase 3	UNKNOWN	Valproate Response in Aggressive Autistic Adolescents
NCT00065962	Phase 3	COMPLETED	Secretin for the Treatment of Autism
NCT00252603	Phase 3	COMPLETED	Galantamine Versus Placebo in Childhood Autism
NCT00346736	Phase 3	COMPLETED	Use of Acupuncture In Children With Autistic Spectrum Disorder
NCT00352248	Phase 3	COMPLETED	Randomized Controlled Trial of Acupuncture Versus Sham Acupuncture in Autistic Spectrum Disorder
NCT00352352	Phase 3	COMPLETED	Use of Acupuncture In Children With Autistic Spectrum Disorder