CCDC91

Summary

CCDC91 (coiled-coil domain containing 91, HGNC:24855) is a protein-coding gene on chromosome 12p11.22, encoding Coiled-coil domain-containing protein 91 (Q7Z6B0). Involved in the regulation of membrane traffic through the trans-Golgi network (TGN).

Predicted to enable identical protein binding activity. Involved in Golgi to lysosome transport. Located in nucleoplasm and trans-Golgi network.

Source: NCBI Gene 55297 — RefSeq curated summary.

At a glance

• Gene–disease (curated): autism spectrum disorder (Limited, GenCC) — +1 more curated relationship
• GWAS associations: 90
• Clinical variants (ClinVar): 65 total — 1 likely-pathogenic
• Phenotypes (HPO): 12
• MANE Select transcript: NM_018318

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:24855
Approved symbol	CCDC91
Name	coiled-coil domain containing 91
Location	12p11.22
Locus type	gene with protein product
Status	Approved
Aliases	p56, FLJ11088, DKFZp779L1558
Ensembl gene	ENSG00000123106
Ensembl biotype	protein_coding
OMIM	617366
Entrez	55297

Gene structure

Transcript identifiers

Ensembl transcripts: 50 — 41 protein_coding, 4 protein_coding_CDS_not_defined, 3 nonsense_mediated_decay, 1 retained_intron, 1 TEC

ENST00000381259, ENST00000535212, ENST00000535520, ENST00000536154, ENST00000536442, ENST00000538586, ENST00000539107, ENST00000539270, ENST00000539904, ENST00000540401, ENST00000540794, ENST00000541792, ENST00000542801, ENST00000542814, ENST00000543019, ENST00000543534, ENST00000543809, ENST00000544649, ENST00000544780, ENST00000545336, ENST00000545737, ENST00000624946, ENST00000897503, ENST00000897504, ENST00000897505, ENST00000897506, ENST00000897507, ENST00000897508, ENST00000897509, ENST00000897510, ENST00000897511, ENST00000897512, ENST00000897513, ENST00000897514, ENST00000897515, ENST00000897516, ENST00000897517, ENST00000937397, ENST00000937398, ENST00000937399, ENST00000958312, ENST00000958313, ENST00000958314, ENST00000958315, ENST00000958316, ENST00000958317, ENST00000958318, ENST00000958319, ENST00000958320, ENST00000958321

RefSeq mRNA: 12 — MANE Select: NM_018318 NM_001330367, NM_001352078, NM_001352079, NM_001352080, NM_001352081, NM_001352082, NM_001352083, NM_001352084, NM_001352086, NM_001352087, NM_001387000, NM_018318

CCDS: CCDS81675, CCDS8716

Canonical transcript exons

ENST00000536442 — 13 exons

Exon	Start	End
ENSE00001297407	28259364	28259442
ENSE00002249991	28257202	28257245
ENSE00002277335	28190456	28190641
ENSE00002323924	28549063	28550166
ENSE00003460866	28306742	28306945
ENSE00003510966	28450350	28450418
ENSE00003526409	28391304	28391411
ENSE00003546464	28307645	28307749
ENSE00003618627	28484052	28484165
ENSE00003619545	28452478	28452654
ENSE00003625549	28305649	28305806
ENSE00003663328	28362438	28362515
ENSE00003692116	28450161	28450253

Expression profiles

Bgee: expression breadth ubiquitous, 282 present calls, max score 98.47.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 16.5535 / max 387.5476, expressed in 1757 samples.

FANTOM5 promoters (7 alternative TSS)

Promoter ID	TPM avg	Samples expressed
124861	15.2939	1750
124860	0.5423	318
124863	0.2942	101
124876	0.2659	69
124866	0.0714	12
124871	0.0711	6
124859	0.0147	6

Top tissues by expression

288 total, by Bgee expression score (0-100, higher = more expressed):

Tissue	Anatomy ID	Expression score	Quality
left testis	UBERON:0004533	98.47	gold quality
right testis	UBERON:0004534	98.42	gold quality
testis	UBERON:0000473	96.12	gold quality
sural nerve	UBERON:0015488	94.39	gold quality
colonic epithelium	UBERON:0000397	94.03	gold quality
calcaneal tendon	UBERON:0003701	93.84	gold quality
C1 segment of cervical spinal cord	UBERON:0006469	92.59	gold quality
pons	UBERON:0000988	91.59	gold quality
spinal cord	UBERON:0002240	91.53	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	91.27	gold quality
lateral nuclear group of thalamus	UBERON:0002736	91.20	gold quality
gastrocnemius	UBERON:0001388	91.04	gold quality
muscle of leg	UBERON:0001383	90.82	gold quality
choroid plexus epithelium	UBERON:0003911	90.62	gold quality
pigmented layer of retina	UBERON:0001782	90.54	gold quality
anterior cingulate cortex	UBERON:0009835	90.49	gold quality
metanephric glomerulus	UBERON:0004736	90.39	gold quality
cingulate cortex	UBERON:0003027	90.33	gold quality
renal glomerulus	UBERON:0000074	90.20	gold quality
body of pancreas	UBERON:0001150	90.18	gold quality
hindlimb stylopod muscle	UBERON:0004252	90.17	gold quality
dorsolateral prefrontal cortex	UBERON:0009834	90.11	gold quality
adrenal tissue	UBERON:0018303	90.06	gold quality
caudate nucleus	UBERON:0001873	89.98	gold quality
heart left ventricle	UBERON:0002084	89.92	gold quality
monocyte	CL:0000576	89.79	gold quality
Brodmann (1909) area 9	UBERON:0013540	89.77	gold quality
cardiac ventricle	UBERON:0002082	89.74	gold quality
right atrium auricular region	UBERON:0006631	89.68	gold quality
mononuclear cell	CL:0000842	89.64	gold quality

Single-cell (SCXA)

Detected in 4 experiment(s), a significant marker in 4.

Experiment	Marker?	Max mean expression
E-HCAD-38	yes	2506.72
E-CURD-119	yes	32.43
E-GEOD-134144	yes	32.37
E-ANND-3	yes	6.79

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

91 targeting CCDC91, top 30 by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific):

miRNA	Max score	Avg score	miRNA target_count
HSA-MIR-518D-5P	100.00	67.51	979
HSA-MIR-518E-5P	100.00	67.66	954
HSA-MIR-518F-5P	100.00	67.51	979
HSA-MIR-519A-5P	100.00	67.66	954
HSA-MIR-519B-5P	100.00	67.66	954
HSA-MIR-519C-5P	100.00	67.66	954
HSA-MIR-520C-5P	100.00	67.51	979
HSA-MIR-522-5P	100.00	67.66	954
HSA-MIR-523-5P	100.00	67.66	954
HSA-MIR-526A-5P	100.00	67.51	979
HSA-MIR-5692B	100.00	71.32	2622
HSA-MIR-5692C	100.00	71.32	2622
HSA-MIR-1277-5P	100.00	73.95	5056
HSA-MIR-5692A	100.00	74.40	6850
HSA-MIR-574-5P	100.00	66.01	989
HSA-MIR-3163	100.00	77.23	8605
HSA-MIR-10401-5P	99.99	65.79	948
HSA-MIR-548AW	99.99	72.57	3559
HSA-MIR-33A-5P	99.99	68.62	1055
HSA-MIR-33B-5P	99.99	68.58	1062
HSA-LET-7F-2-3P	99.98	70.98	2588
HSA-MIR-1185-1-3P	99.98	71.04	2593
HSA-MIR-1185-2-3P	99.98	71.04	2593
HSA-MIR-8068	99.98	73.85	2376
HSA-MIR-433-3P	99.98	69.37	1203
HSA-MIR-507	99.97	70.11	1915
HSA-MIR-6793-5P	99.97	65.95	758
HSA-MIR-1468-3P	99.96	72.74	3797
HSA-MIR-557	99.96	70.01	1640
HSA-MIR-539-5P	99.93	70.30	2855

Literature-anchored findings (GeneRIF, showing 3)

• p56 tightly cooperates with the GGAs in the sorting of cathepsin D to lysosomes, probably by enabling the movement of GGA-containing transport carriers. (PMID:17596511)
• A novel CCDC91 isoform associated with ossification of the posterior longitudinal ligament of the spine works as a non-coding RNA to regulate osteogenic genes. (PMID:36990086)
• A mutation in CCDC91, Homo sapiens coiled-coil domain containing 91 protein, cause autosomal-dominant acrokeratoelastoidosis. (PMID:38627542)

Cross-species orthologs

2 orthologs

Organism	Symbol	Gene ID
mus_musculus	Ccdc91	ENSMUSG00000030301
rattus_norvegicus	Ccdc91	ENSRNOG00000001847

Protein

Protein identifiers

Coiled-coil domain-containing protein 91 — Q7Z6B0 (reviewed: Q7Z6B0)

Alternative names: GGA-binding partner, p56 accessory protein

All UniProt accessions (13): A0A0A0MTP0, Q7Z6B0, F5GWB1, F5GWR1, F5GXK6, F5GZH9, F5H3Z8, F5H4N8, H0YFR6, H0YGB4, H0YGN9, H0YH48, H0YH50

UniProt curated annotations — full annotation on UniProt →

Function. Involved in the regulation of membrane traffic through the trans-Golgi network (TGN). Functions in close cooperation with the GGAs in the sorting of hydrolases to lysosomes.

Subunit / interactions. Homodimer. Interacts with GGA1, GGA2 and AP1G1.

Subcellular location. Membrane. Golgi apparatus. trans-Golgi network membrane. trans-Golgi network.

Tissue specificity. Widely expressed.

Miscellaneous. Binds GGAs. Does not bind GGAs.

Isoforms (3)

UniProt ID	Names	Canonical?
Q7Z6B0-1	1	yes
Q7Z6B0-2	2
Q7Z6B0-3	3

RefSeq proteins (12): NP_001317296, NP_001339007, NP_001339008, NP_001339009, NP_001339010, NP_001339011, NP_001339012, NP_001339013, NP_001339015, NP_001339016, NP_001373929, NP_060788* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR034592	CCDC91	Family

UniProt features (16 total): sequence conflict 4, region of interest 3, sequence variant 2, coiled-coil region 2, modified residue 2, splice variant 2, chain 1

Structure

Experimental structures (PDB)

1 structures.

PDB	Method	Resolution (Å)
1OM9	X-RAY DIFFRACTION	2.5

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q7Z6B0-F1	76.04	0.50

Functional residue map

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

Post-translational modifications (2): 43, 46

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 175 (showing top): GOBP_LYSOSOMAL_TRANSPORT, GAUSSMANN_MLL_AF4_FUSION_TARGETS_G_DN, GRAESSMANN_APOPTOSIS_BY_DOXORUBICIN_DN, GOBP_VACUOLAR_TRANSPORT, GOBP_VESICLE_MEDIATED_TRANSPORT, NKX61_01, chr12p11, GOCC_TRANS_GOLGI_NETWORK, TGCTGAY_UNKNOWN, WTGAAAT_UNKNOWN, OCT1_07, GOBP_GOLGI_TO_VACUOLE_TRANSPORT, LYF1_01, TATA_C, RYTTCCTG_ETS2_B

GO Biological Process (3): protein transport (GO:0015031), Golgi to lysosome transport (GO:0090160), Golgi vesicle transport (GO:0048193)

GO Molecular Function (1): identical protein binding (GO:0042802)

GO Cellular Component (7): acrosomal vesicle (GO:0001669), nucleoplasm (GO:0005654), Golgi apparatus (GO:0005794), trans-Golgi network (GO:0005802), centriole (GO:0005814), cytosol (GO:0005829), membrane (GO:0016020)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular anatomical structure	3
cytoplasm	2
transport	1
intracellular protein localization	1
establishment of protein localization	1
Golgi to vacuole transport	1
lysosomal transport	1
cytosolic transport	1
vesicle-mediated transport	1
protein binding	1
secretory granule	1
nuclear lumen	1
endomembrane system	1
intracellular membrane-bounded organelle	1
Golgi apparatus subcompartment	1
microtubule organizing center	1
intracellular membraneless organelle	1

Protein interactions and networks

STRING

1034 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
CCDC91	KLHL42	Q9P2K6	574
CCDC91	GGA1	Q9UJY5	557
CCDC91	C10orf88	Q9H8K7	527
CCDC91	STK38L	Q9Y2H1	487
CCDC91	RSPH9	Q9H1X1	481
CCDC91	OR4K13	Q8NH42	477
CCDC91	WASHC3	Q9Y3C0	446
CCDC91	HAO1	Q9UJM8	433
CCDC91	NUP37	Q8NFH4	428
CCDC91	GOLGA5	Q8TBA6	427
CCDC91	GARIN6	Q8NEG0	418
CCDC91	NCKAP1	Q9Y2A7	416
CCDC91	TMEM167A	Q8TBQ9	416
CCDC91	DDX11	Q96FC9	407
CCDC91	RSPO2	Q6UXX9	406

IntAct

20 interactions, top by confidence:

A	B	Type	Score
PES1	AP3B1	psi-mi:“MI:0914”(association)	0.530
AP2B1	CCDC91	psi-mi:“MI:0407”(direct interaction)	0.440
CCDC91	H1-2	psi-mi:“MI:0915”(physical association)	0.400
CCDC91	RSL1D1	psi-mi:“MI:0915”(physical association)	0.400
CCDC91	CCDC91	psi-mi:“MI:0915”(physical association)	0.370
TESC	CCDC91	psi-mi:“MI:0915”(physical association)	0.370
EWSR1	CCDC91	psi-mi:“MI:0915”(physical association)	0.370
RIMS1	KIF2A	psi-mi:“MI:0914”(association)	0.350
MAGEA9	CIBAR1	psi-mi:“MI:0914”(association)	0.350
RNF149	CCDC85C	psi-mi:“MI:0914”(association)	0.350
GGA1	RABGAP1L	psi-mi:“MI:0914”(association)	0.350
MVK	CCDC91	psi-mi:“MI:0914”(association)	0.350
ANGPTL3	CCDC91	psi-mi:“MI:0914”(association)	0.350
CCDC91	CCDC102A	psi-mi:“MI:0914”(association)	0.350
MAGEA9	MED19	psi-mi:“MI:0914”(association)	0.350
PAAT	HIP1	psi-mi:“MI:0914”(association)	0.350
MVK	NAB1	psi-mi:“MI:0914”(association)	0.350
VCP	SHTN1	psi-mi:“MI:0914”(association)	0.350
CCDC91		psi-mi:“MI:0915”(physical association)	0.000

BioGRID (45): CCDC91 (Two-hybrid), CCDC91 (Affinity Capture-MS), CCDC91 (Two-hybrid), CCDC91 (Two-hybrid), CCDC91 (Affinity Capture-MS), CCDC91 (Affinity Capture-MS), CCDC91 (Affinity Capture-MS), STARD7 (Affinity Capture-MS), C10orf88 (Affinity Capture-MS), CCDC102A (Affinity Capture-MS), CCDC91 (Affinity Capture-MS), CCDC91 (Two-hybrid), CCDC91 (Two-hybrid), CCDC91 (Two-hybrid), PRR5L (Two-hybrid)

ESM2 similar proteins: A2XW69, A2ZAC2, A4GSN8, D3ZZL9, F4HZB5, F4I9A2, F4IJK1, F4JIF4, F4K1B4, F4KEW8, O64584, O97961, P0CB23, P61430, P93203, Q08B20, Q0DY81, Q0WVL7, Q14789, Q15643, Q28628, Q336R3, Q4PT37, Q5BQN5, Q5RCA7, Q61595, Q6AY97, Q70FJ1, Q7FAD5, Q7XU27, Q7Z6B0, Q84VY2, Q86UP2, Q8CHG3, Q8IWJ2, Q8RXD6, Q8S2T0, Q922J3, Q99996, Q9BZF9

Diamond homologs: Q5RCA7, Q6AY97, Q7Z6B0, Q9D8L5

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	1
Uncertain significance	51
Likely benign	3
Benign	2

Top pathogenic / likely-pathogenic (1)

Variant ID	HGVS	Classification
545156	NC_000012.12:g.(?28125337)(28231096_?)del	Likely pathogenic

SpliceAI

4715 predictions. Top by Δscore:

Variant	Effect	Δscore
12:28190639:CAGG:C	donor_loss	1.0000
12:28190640:AGGTA:A	donor_loss	1.0000
12:28190641:GGT:G	donor_loss	1.0000
12:28257243:GAGG:G	donor_loss	1.0000
12:28257244:AGG:A	donor_loss	1.0000
12:28257246:GT:G	donor_loss	1.0000
12:28257247:T:A	donor_loss	1.0000
12:28259358:TTGTA:T	acceptor_loss	1.0000
12:28259359:TGTA:T	acceptor_loss	1.0000
12:28259360:GTAGG:G	acceptor_loss	1.0000
12:28259361:TAG:T	acceptor_loss	1.0000
12:28259362:A:AG	acceptor_gain	1.0000
12:28259362:A:AT	acceptor_loss	1.0000
12:28259362:AG:A	acceptor_gain	1.0000
12:28259363:G:A	acceptor_loss	1.0000
12:28259363:G:GT	acceptor_gain	1.0000
12:28259363:GG:G	acceptor_gain	1.0000
12:28259363:GGC:G	acceptor_gain	1.0000
12:28259363:GGCT:G	acceptor_gain	1.0000
12:28259440:CAGGT:C	donor_loss	1.0000
12:28259442:GGTAT:G	donor_loss	1.0000
12:28259444:T:G	donor_loss	1.0000
12:28259457:G:GT	donor_gain	1.0000
12:28305636:T:A	acceptor_gain	1.0000
12:28305644:TTTA:T	acceptor_loss	1.0000
12:28305645:TTAGT:T	acceptor_loss	1.0000
12:28305646:TAGTA:T	acceptor_loss	1.0000
12:28305647:A:AC	acceptor_loss	1.0000
12:28305647:A:AG	acceptor_gain	1.0000
12:28305648:G:GT	acceptor_gain	1.0000

AlphaMissense

2388 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
12:28259424:T:A	W31R	0.998
12:28259424:T:C	W31R	0.998
12:28362490:T:C	L210P	0.998
12:28259426:G:C	W31C	0.997
12:28259426:G:T	W31C	0.997
12:28391308:T:C	L220P	0.997
12:28391311:T:C	L221P	0.997
12:28257240:T:C	F9L	0.996
12:28257242:T:A	F9L	0.996
12:28257242:T:G	F9L	0.996
12:28362486:G:C	A209P	0.995
12:28362499:T:A	I213N	0.995
12:28307745:T:C	L191P	0.994
12:28362478:G:A	G206D	0.994
12:28391401:T:C	L251P	0.993
12:28450171:T:C	L258P	0.993
12:28257231:T:C	F6L	0.992
12:28257233:T:A	F6L	0.992
12:28257233:T:G	F6L	0.992
12:28362470:G:C	R203S	0.992
12:28362470:G:T	R203S	0.992
12:28362477:G:C	G206R	0.992
12:28391304:G:C	A219P	0.992
12:28362474:G:C	A205P	0.991
12:28362515:G:C	K218N	0.991
12:28362515:G:T	K218N	0.991
12:28391364:G:C	A239P	0.991
12:28259433:T:C	F34L	0.990
12:28259435:T:A	F34L	0.990
12:28259435:T:G	F34L	0.990

dbSNP variants (sampled 300 via entrez): RS1000008383 (12:28383941 T>C), RS1000012984 (12:28493478 ATG>A), RS1000031235 (12:28516397 A>G), RS1000036983 (12:28252834 T>G), RS1000044833 (12:28509557 C>A), RS1000059355 (12:28290784 AC>A), RS1000079526 (12:28334753 T>C,G), RS1000090861 (12:28470011 A>G), RS1000104750 (12:28341176 C>T), RS1000136146 (12:28425394 T>G), RS1000138496 (12:28297240 A>C,T), RS1000165661 (12:28521701 C>T), RS1000166060 (12:28347377 GTTAC>G), RS1000166914 (12:28438456 A>G,T), RS1000173171 (12:28457037 T>A)

Disease associations

OMIM: gene MIM:617366 | disease phenotypes: MIM:209850

GenCC curated gene-disease

Disease	Classification	Inheritance
autism spectrum disorder	Limited	Autosomal dominant
punctate palmoplantar keratoderma	Limited	Autosomal dominant

Mondo (3): autism (MONDO:0005260), autism spectrum disorder (MONDO:0005258), punctate palmoplantar keratoderma (MONDO:0017675)

Orphanet (0):

HPO phenotypes

12 total (13 of 12 shown, HPO-id order):

HPO	Term
HP:0000972	Palmoplantar hyperkeratosis
HP:0002814	Abnormality of the lower limb
HP:0002955	Granulomatosis
HP:0006089	Palmar hyperhidrosis
HP:0025092	Epidermal acanthosis
HP:0025114	Hypergranulosis
HP:0025167	Fragmented elastic fibers in the dermis
HP:0025507	Yellow papule
HP:0025509	Piezogenic pedal papules
HP:0040162	Orthokeratosis
HP:0045059	Hyperkeratotic papule
HP:0200035	Skin plaque
HP:0000717	Autism

GWAS associations

90 associations (top):

Study	Trait	p-value
GCST000817_178	Height	7.000000e-17
GCST001762_391	Obesity-related traits	8.000000e-06
GCST001956_22	Height	6.000000e-12
GCST002545_5	Ossification of the posterior longitudinal ligament of the spine	4.000000e-12
GCST002647_47	Height	3.000000e-32
GCST003985_3	Breast size	1.000000e-12
GCST004063_37	Waist circumference adjusted for body mass index	7.000000e-11
GCST004063_55	Waist circumference adjusted for body mass index	1.000000e-07
GCST004067_175	Hip circumference adjusted for BMI	6.000000e-07
GCST004067_191	Hip circumference adjusted for BMI	4.000000e-06
GCST004067_78	Hip circumference adjusted for BMI	2.000000e-10
GCST004183_10	Lung function (FEV1)	1.000000e-07
GCST004184_13	Lung function (FVC)	3.000000e-10
GCST004350_9	Bone ultrasound measurement (velocity of sound)	5.000000e-07
GCST004500_101	Waist circumference adjusted for BMI (adjusted for smoking behaviour)	2.000000e-12
GCST004500_35	Waist circumference adjusted for BMI (adjusted for smoking behaviour)	2.000000e-09
GCST004500_98	Waist circumference adjusted for BMI (adjusted for smoking behaviour)	5.000000e-06
GCST004501_10	Waist circumference adjusted for BMI (joint analysis main effects and smoking interaction)	1.000000e-12
GCST004501_11	Waist circumference adjusted for BMI (joint analysis main effects and smoking interaction)	1.000000e-08
GCST004504_15	Waist circumference adjusted for BMI in non-smokers	2.000000e-10
GCST004504_16	Waist circumference adjusted for BMI in non-smokers	1.000000e-07
GCST004562_145	Waist circumference adjusted for body mass index	2.000000e-10
GCST004562_244	Waist circumference adjusted for body mass index	2.000000e-07
GCST004562_41	Waist circumference adjusted for body mass index	1.000000e-10
GCST004563_127	Waist circumference adjusted for BMI (joint analysis main effects and physical activity interaction)	1.000000e-09
GCST004563_206	Waist circumference adjusted for BMI (joint analysis main effects and physical activity interaction)	5.000000e-07
GCST004563_22	Waist circumference adjusted for BMI (joint analysis main effects and physical activity interaction)	2.000000e-09
GCST004564_66	Waist circumference adjusted for BMI in active individuals	9.000000e-07
GCST004564_67	Waist circumference adjusted for BMI in active individuals	1.000000e-08
GCST004564_68	Waist circumference adjusted for BMI in active individuals	1.000000e-08

EFO canonical traits (18, from GWAS)

EFO ID	Trait name
EFO:0004340	body mass index
EFO:0007789	BMI-adjusted waist circumference
EFO:0008039	BMI-adjusted hip circumference
EFO:0004314	forced expiratory volume
EFO:0004312	vital capacity
EFO:0004514	bone quantitative ultrasound measurement
EFO:0004318	smoking behavior
EFO:0008002	physical activity measurement
EFO:0009270	heel bone mineral density
EFO:0007620	volumetric bone mineral density
EFO:0004341	body fat distribution
EFO:0009718	peak expiratory flow
EFO:0004511	femoral neck bone geometry
EFO:0009658	adverse effect
EFO:0007874	gut microbiome measurement
EFO:0004346	neuroimaging measurement
EFO:0004980	appendicular lean mass
EFO:0007986	reticulocyte count

MeSH disease descriptors (1)

Descriptor	Name	Tree numbers
D001321	Autistic Disorder	F03.625.164.113.500

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

PharmGKB: 1 entry (VIP=true, CPIC=false)

CTD chemical–gene interactions

24 total (human), top 24 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Benzo(a)pyrene	affects methylation, decreases expression, decreases methylation	7
Aflatoxin B1	affects expression, decreases expression, decreases methylation	4
trichostatin A	affects cotreatment, increases expression	3
Valproic Acid	affects expression, decreases expression, decreases methylation, increases expression	3
Cyclosporine	increases expression	3
sodium arsenite	decreases expression, increases expression	2
aristolochic acid I	decreases expression	1
dicrotophos	decreases expression	1
methylmercuric chloride	decreases expression	1
triphenyl phosphate	affects expression	1
bisphenol A	decreases methylation	1
tris(1,3-dichloro-2-propyl)phosphate	increases expression	1
potassium chromate(VI)	decreases expression, affects cotreatment	1
epigallocatechin gallate	decreases expression, affects cotreatment	1
di-n-butylphosphoric acid	affects expression	1
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	increases expression, affects cotreatment	1
dorsomorphin	affects cotreatment, increases expression	1
bisphenol S	decreases methylation	1
jinfukang	decreases expression	1
Temozolomide	decreases expression	1
Air Pollutants	increases abundance, increases expression	1
Arsenic	affects methylation	1
7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide	decreases expression	1
Particulate Matter	increases abundance, increases expression	1

Clinical trials (associated diseases)

394 trials via MONDO — disease-level, not drug-specific.

Trial	Phase	Status	Title
NCT00391261	PHASE4	COMPLETED	An Open-label Trial of Metformin for Weight Control of Pediatric Patients on Antipsychotic Medications.
NCT01028820	PHASE4	COMPLETED	FMRI Brain Activation of Aripiprazole Treatment in Autism Spectrum Disorders
NCT01333865	PHASE4	COMPLETED	A Study of Memantine Hydrochloride (Namenda®) for Cognitive and Behavioral Impairment in Adults With Autism Spectrum Disorders
NCT01337700	PHASE4	COMPLETED	Milnacipran in Autism and the Functional Locus Coeruleus and Noradrenergic Model of Autism
NCT01695200	PHASE4	COMPLETED	Omega-3 Fatty Acids in Autism Spectrum Disorders
NCT02096952	PHASE4	COMPLETED	Methylphenidate ER Liquid Formulation in Adults With ASD and ADHD
NCT02235467	PHASE4	COMPLETED	Multisite Study: Parental Training Using Video Modelling to Develop Social Skills in Children With Autism
NCT02940574	PHASE4	COMPLETED	Neural and Behavioral Effects of Oxytocin in Autism Spectrum Disorders
NCT03333629	PHASE4	COMPLETED	Promoting Positive Outcomes for Individuals With ASD: Linking Early Detection, Treatment, and Long-term Outcomes
NCT03337646	PHASE4	COMPLETED	Evaluation of the Effect and Safety of Lisdexamfetamine in Children Aged 6-12 With ADHD and Autism
NCT03538431	PHASE4	COMPLETED	Improving Driving in Young People With Autism Spectrum Disorders
NCT03757585	PHASE4	COMPLETED	Natural Treatments for the Management of Emotional Dysregulation in Youth With Non-verbal Learning Disability (NVLD) and/or Autism Spectrum Disorders (ASD)
NCT04903353	PHASE4	COMPLETED	Pragmatic Trial Comparing Weight Gain in Children With Autism Taking Risperidone Versus Aripiprazole
NCT05063656	PHASE4	COMPLETED	Biomarker-Driven Pharmacological Treatment of Adolescents With Autism Spectrum Disorder With Gabapentin
NCT05146245	PHASE4	UNKNOWN	Safety and Pharmacokinetics of Antipsychotics in Children 2: Studying TDM in an RCT
NCT05916339	PHASE4	RECRUITING	AWARE: Management of ADHD in Autism Spectrum Disorder
NCT05954052	PHASE4	TERMINATED	A Study of Glutathione in Children With Autism Spectrum Disorder
NCT06853665	PHASE4	RECRUITING	The TEAM Study - Treatment Efficacy for Autism/Attention Using Mixed Amphetamine
NCT07054697	PHASE4	COMPLETED	Pilot-RCT With Individualized Homeopathic Treatment in the Children With Autism Spectrum Disorder
NCT07161804	PHASE4	COMPLETED	Pilot RCT Using Homeopathic Medicines in ASD
NCT07439042	PHASE4	NOT_YET_RECRUITING	Buspirone for Anxiety in Autistic Youth
NCT00211796	PHASE4	COMPLETED	Divalproex Sodium ER in Adult Autism
NCT00409747	PHASE4	COMPLETED	Minocycline to Treat Childhood Regressive Autism
NCT00576732	PHASE4	COMPLETED	A Study of the Effectiveness and Safety of Two Doses of Risperidone in the Treatment of Children and Adolescents With Autistic Disorder
NCT00844753	PHASE4	COMPLETED	Atomoxetine, Placebo and Parent Management Training in Autism
NCT01098383	PHASE4	UNKNOWN	Treatment With Acetyl-Choline Esterase Inhibitors in Children With Autism Spectrum Disorders
NCT02069977	PHASE4	UNKNOWN	Study to Evaluate the Efficacy and Safety of Aripiprazole
NCT02199925	PHASE4	UNKNOWN	An Open-Label Study to Evaluate the Efficacy of High-Dose Gammaplex in Children on the Autism Spectrum
NCT02255565	PHASE4	COMPLETED	Dose Response Effects of Quillivant XR in Children With ADHD and Autism: A Pilot Study
NCT01302964	PHASE3	COMPLETED	Mirtazapine Treatment of Anxiety in Children and Adolescents With Pervasive Developmental Disorders
NCT01706523	PHASE3	TERMINATED	Open Label Extension Study of STX209 (Arbaclofen) in Autism Spectrum Disorders
NCT01825798	PHASE3	COMPLETED	Treatment of Overweight Induced by Antipsychotic Medication in Young People With Autism Spectrum Disorders (ASD)
NCT01972074	PHASE3	COMPLETED	Behavioral and Neural Response to Memantine in Adolescents With Autism Spectrum Disorder
NCT02985749	PHASE3	COMPLETED	A Study of Oxytocin for the Treatment of Social Impairment in Individuals With High Functioning Autism Spectrum Disorder
NCT03197922	PHASE3	COMPLETED	Treatment of Encopresis in Children With Autism Spectrum Disorders
NCT03504917	PHASE3	TERMINATED	A Study of Balovaptan in Adults With Autism Spectrum Disorder With a 2-Year Open-Label Extension
NCT03553875	PHASE3	TERMINATED	Memantine for the Treatment of Social Deficits in Youth With Disorders of Impaired Social Interactions
NCT03640156	PHASE3	COMPLETED	Modulating Socially Adaptive Mirror System Functioning in Autism by Oxytocin
NCT03715153	PHASE3	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	PHASE3	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