SCAF8

Summary

SCAF8 (SR-related CTD associated factor 8, HGNC:20959) is a protein-coding gene on chromosome 6q25.2, encoding SR-related and CTD-associated factor 8 (Q9UPN6). Anti-terminator protein required to prevent early mRNA termination during transcription.

Enables RNA binding activity and RNA polymerase II C-terminal domain phosphoserine binding activity. Involved in negative regulation of termination of RNA polymerase II transcription, poly(A)-coupled and positive regulation of DNA-templated transcription, elongation. Located in nucleoplasm.

Source: NCBI Gene 22828 — RefSeq curated summary.

At a glance

• GWAS associations: 9
• Clinical variants (ClinVar): 174 total
• MANE Select transcript: NM_014892

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:20959
Approved symbol	SCAF8
Name	SR-related CTD associated factor 8
Location	6q25.2
Locus type	gene with protein product
Status	Approved
Aliases	KIAA1116
Ensembl gene	ENSG00000213079
Ensembl biotype	protein_coding
OMIM	616024
Entrez	22828

Gene structure

Transcript identifiers

Ensembl transcripts: 10 — 7 protein_coding, 3 protein_coding_CDS_not_defined

ENST00000367178, ENST00000367186, ENST00000417268, ENST00000461219, ENST00000464628, ENST00000479234, ENST00000899496, ENST00000913266, ENST00000913267, ENST00000913268

RefSeq mRNA: 5 — MANE Select: NM_014892 NM_001286188, NM_001286189, NM_001286194, NM_001286199, NM_014892

CCDS: CCDS5247, CCDS69226, CCDS75541

Canonical transcript exons

ENST00000367178 — 20 exons

Exon	Start	End
ENSE00000813828	154795009	154795139
ENSE00000813830	154803544	154803623
ENSE00000813831	154805369	154805486
ENSE00000813833	154808686	154808798
ENSE00000813840	154824234	154824378
ENSE00000813842	154830922	154831140
ENSE00001190014	154818479	154818592
ENSE00001237676	154827172	154827240
ENSE00001237697	154822276	154822409
ENSE00001237706	154820177	154820333
ENSE00001237733	154810015	154810208
ENSE00001237750	154808070	154808201
ENSE00001237766	154801971	154802147
ENSE00001237781	154792823	154792976
ENSE00001375840	154815716	154815816
ENSE00001428900	154733416	154733930
ENSE00001812832	154831939	154834221
ENSE00003468077	154787861	154788022
ENSE00003563006	154773989	154774072
ENSE00003629300	154778001	154778045

Expression profiles

Bgee: expression breadth ubiquitous, 294 present calls, max score 97.59.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 46.9775 / max 416.4947, expressed in 1822 samples.

FANTOM5 promoters (4 alternative TSS)

Promoter ID	TPM avg	Samples expressed
70675	37.1991	1819
70676	7.2302	1750
204264	2.0945	1099
70677	0.4537	208

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
secondary oocyte	CL:0000655	97.59	gold quality
oocyte	CL:0000023	95.80	gold quality
sperm	CL:0000019	95.58	gold quality
calcaneal tendon	UBERON:0003701	94.91	gold quality
caput epididymis	UBERON:0004358	94.13	gold quality
cauda epididymis	UBERON:0004360	93.98	gold quality
male germ cell	CL:0000015	93.84	gold quality
upper leg skin	UBERON:0004262	93.80	gold quality
ventricular zone	UBERON:0003053	93.78	gold quality
corpus epididymis	UBERON:0004359	93.73	gold quality
colonic epithelium	UBERON:0000397	93.41	gold quality
synovial joint	UBERON:0002217	92.97	gold quality
pigmented layer of retina	UBERON:0001782	92.85	gold quality
choroid plexus epithelium	UBERON:0003911	92.74	gold quality
skin of hip	UBERON:0001554	92.42	gold quality
oral cavity	UBERON:0000167	92.36	gold quality
bronchial epithelial cell	CL:0002328	92.23	gold quality
seminal vesicle	UBERON:0000998	92.09	gold quality
mucosa of stomach	UBERON:0001199	92.05	gold quality
epithelium of mammary gland	UBERON:0003244	91.82	gold quality
corpus callosum	UBERON:0002336	91.59	gold quality
penis	UBERON:0000989	91.49	gold quality
mammary duct	UBERON:0001765	91.47	gold quality
ganglionic eminence	UBERON:0004023	91.37	gold quality
embryo	UBERON:0000922	91.26	gold quality
adrenal tissue	UBERON:0018303	91.16	gold quality
urethra	UBERON:0000057	91.09	gold quality
adult organism	UBERON:0007023	91.09	gold quality
sural nerve	UBERON:0015488	90.91	gold quality
parietal pleura	UBERON:0002400	90.88	gold quality

Single-cell (SCXA)

Detected in 1 experiment(s), a significant marker in 1.

Experiment	Marker?	Max mean expression
E-ANND-3	no	0.00

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

84 targeting SCAF8, 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-LET-7A-3P	100.00	74.03	3932
HSA-LET-7B-3P	100.00	74.08	3913
HSA-LET-7F-1-3P	100.00	74.02	3928
HSA-MIR-98-3P	100.00	74.08	3907
HSA-MIR-4531	99.99	69.70	3181
HSA-MIR-548AW	99.99	72.57	3559
HSA-MIR-223-3P	99.99	70.14	1140
HSA-MIR-4789-3P	99.99	70.75	2484
HSA-MIR-4789-5P	99.98	70.76	2721
HSA-MIR-3658	99.96	73.87	4379
HSA-MIR-493-5P	99.96	72.47	2382
HSA-MIR-548AJ-3P	99.96	73.38	5345
HSA-MIR-548X-3P	99.96	73.38	5345
HSA-MIR-4666A-3P	99.96	71.71	3434
HSA-LET-7C-3P	99.95	73.42	2862
HSA-MIR-548J-3P	99.94	72.61	4881
HSA-MIR-381-3P	99.93	71.87	2854
HSA-MIR-548AE-3P	99.93	72.66	4867
HSA-MIR-548AH-3P	99.93	72.54	4872
HSA-MIR-548AM-3P	99.93	72.54	4872
HSA-MIR-548AQ-3P	99.93	72.66	4867
HSA-MIR-450B-5P	99.92	71.48	3175
HSA-MIR-300	99.92	71.76	2856
HSA-MIR-7-1-3P	99.91	71.53	4384
HSA-MIR-7-2-3P	99.91	71.40	4394
HSA-MIR-8063	99.91	69.76	3146
HSA-MIR-3140-3P	99.88	68.47	2069
HSA-LET-7A-2-3P	99.87	70.53	1921
HSA-MIR-548D-3P	99.87	70.67	4362
HSA-MIR-548BB-3P	99.86	70.58	4354

Literature-anchored findings (GeneRIF, showing 2)

• SCAF8-CNKSR3 variant rs955333 was not associated with diabetic kidney disease but showed association with diabetic retinopathy in Chinese type 2 diabetes patients (PMID:28401168)
• Together, SCAF4 and SCAF8 coordinate the transition between elongation and termination, ensuring correct polyA site selection and RNAPII transcriptional termination in human cells. (PMID:31104839)

Cross-species orthologs

4 orthologs

Organism	Symbol	Gene ID
mus_musculus	Scaf8	ENSMUSG00000046201
rattus_norvegicus	Scaf8	ENSRNOG00000016919
drosophila_melanogaster	Isha	FBGN0034598
caenorhabditis_elegans	nrd-1	WBGENE00017004

Paralogs (1): SCAF4 (ENSG00000156304)

Protein

Protein identifiers

SR-related and CTD-associated factor 8 — Q9UPN6 (reviewed: Q9UPN6)

Alternative names: CDC5L complex-associated protein 7, RNA-binding motif protein 16

All UniProt accessions (2): A0A0A0MT33, Q9UPN6

UniProt curated annotations — full annotation on UniProt →

Function. Anti-terminator protein required to prevent early mRNA termination during transcription. Together with SCAF4, acts by suppressing the use of early, alternative poly(A) sites, thereby preventing the accumulation of non-functional truncated proteins. Mechanistically, associates with the phosphorylated C-terminal heptapeptide repeat domain (CTD) of the largest RNA polymerase II subunit (POLR2A), and subsequently binds nascent RNA upstream of early polyadenylation sites to prevent premature mRNA transcript cleavage and polyadenylation. Independently of SCAF4, also acts as a positive regulator of transcript elongation.

Subunit / interactions. Interacts with POLR2A; via C-terminal heptapeptide repeat domain (CTD) phosphorylated at ‘Ser-2’ and ‘Ser-5’. Identified in a complex with CDC5L and other spliceosomal proteins.

Subcellular location. Nucleus. Nucleus matrix.

Isoforms (2)

UniProt ID	Names	Canonical?
Q9UPN6-1	1	yes
Q9UPN6-2	2

RefSeq proteins (5): NP_001273117, NP_001273118, NP_001273123, NP_001273128, NP_055707* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR000504	RRM_dom	Domain
IPR006569	CID_dom	Domain
IPR008942	ENTH_VHS	Homologous_superfamily
IPR012677	Nucleotide-bd_a/b_plait_sf	Homologous_superfamily
IPR034370	SCAF8_RRM	Domain
IPR035979	RBD_domain_sf	Homologous_superfamily
IPR051485	SR-CTD_assoc_factor	Family

Pfam: PF00076, PF04818

UniProt features (46 total): helix 12, compositionally biased region 10, modified residue 9, region of interest 6, domain 2, splice variant 2, chain 1, cross-link 1, sequence variant 1, sequence conflict 1, turn 1

Structure

Experimental structures (PDB)

10 structures.

PDB	Method	Resolution (Å)
3D9J	X-RAY DIFFRACTION	1.6
3D9N	X-RAY DIFFRACTION	1.6
3D9M	X-RAY DIFFRACTION	1.75
3D9I	X-RAY DIFFRACTION	1.91
3D9O	X-RAY DIFFRACTION	2
3D9P	X-RAY DIFFRACTION	2.1
3D9K	X-RAY DIFFRACTION	2.2
3D9L	X-RAY DIFFRACTION	2.2
2DIW	SOLUTION NMR
9U9X	SOLUTION NMR

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q9UPN6-F1	52.01	0.17

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 (10): 6, 273, 615, 617, 779, 917, 927, 938, 1073, 18

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 162 (showing top): GSE45365_NK_CELL_VS_CD8A_DC_MCMV_INFECTION_DN, FREAC2_01, BROWNE_HCMV_INFECTION_6HR_DN, YAGI_AML_WITH_INV_16_TRANSLOCATION, GOBP_DNA_TEMPLATED_TRANSCRIPTION_TERMINATION, GRAESSMANN_APOPTOSIS_BY_DOXORUBICIN_DN, GOBP_NEGATIVE_REGULATION_OF_CELLULAR_COMPONENT_ORGANIZATION, chr6q25, KMCATNNWGGA_UNKNOWN, DACOSTA_UV_RESPONSE_VIA_ERCC3_COMMON_DN, ATTCTTT_MIR186, GOBP_TERMINATION_OF_RNA_POLYMERASE_II_TRANSCRIPTION, GOBP_NEGATIVE_REGULATION_OF_PROTEIN_CONTAINING_COMPLEX_DISASSEMBLY, AACTTT_UNKNOWN, GNF2_DDX5

GO Biological Process (3): termination of RNA polymerase II transcription (GO:0006369), positive regulation of DNA-templated transcription, elongation (GO:0032786), negative regulation of termination of RNA polymerase II transcription, poly(A)-coupled (GO:2000805)

GO Molecular Function (7): RNA polymerase II complex binding (GO:0000993), RNA binding (GO:0003723), mRNA binding (GO:0003729), RNA polymerase core enzyme binding (GO:0043175), RNA polymerase II C-terminal domain phosphoserine binding (GO:1990269), nucleic acid binding (GO:0003676), protein binding (GO:0005515)

GO Cellular Component (5): nucleus (GO:0005634), nucleoplasm (GO:0005654), cytoplasm (GO:0005737), mRNA cleavage factor complex (GO:0005849), nuclear matrix (GO:0016363)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular anatomical structure	3
binding	2
nuclear lumen	2
DNA-templated transcription termination	1
transcription by RNA polymerase II	1
DNA-templated transcription elongation	1
regulation of DNA-templated transcription elongation	1
positive regulation of DNA-templated transcription	1
termination of RNA polymerase II transcription, poly(A)-coupled	1
negative regulation of termination of RNA polymerase II transcription	1
regulation of termination of RNA polymerase II transcription, poly(A)-coupled	1
RNA polymerase core enzyme binding	1
nucleic acid binding	1
RNA binding	1
RNA polymerase binding	1
phosphoserine residue binding	1
RNA polymerase II C-terminal domain binding	1
intracellular membrane-bounded organelle	1
intracellular anatomical structure	1
nuclear protein-containing complex	1

Protein interactions and networks

STRING

2874 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
SCAF8	PCF11	O94913	835
SCAF8	CNKSR3	Q6P9H4	664
SCAF8	TFB1M	Q8WVM0	642
SCAF8	TIAM2	Q8IVF5	640
SCAF8	CLDN20	P56880	610
SCAF8	A0A2Q2T6B6	A0A2Q2T6B6	601
SCAF8	G9CGD6	G9CGD6	601
SCAF8	SETX	Q7Z333	574
SCAF8	RPRD2	Q5VT52	566
SCAF8	RPRD1B	Q9NQG5	554
SCAF8	SCAF1	Q9H7N4	553
SCAF8	RPRD1A	Q96P16	542
SCAF8	TMEM242	Q9NWH2	512
SCAF8	PHF3	Q92576	454
SCAF8	TULP4	Q9NRJ4	450
SCAF8	OPRM1	P35372	450

IntAct

66 interactions, top by confidence:

A	B	Type	Score
GOLGA2	SCAF8	psi-mi:“MI:0915”(physical association)	0.670
SCAF8	GOLGA2	psi-mi:“MI:0915”(physical association)	0.670
KLHL22	TMEM223	psi-mi:“MI:0914”(association)	0.640
RPS14	CCZ1B	psi-mi:“MI:0914”(association)	0.640
SNRPA1	U2SURP	psi-mi:“MI:0914”(association)	0.640
DNPEP	SCAF8	psi-mi:“MI:0915”(physical association)	0.590
TEX11	SCAF8	psi-mi:“MI:0915”(physical association)	0.560
GIGYF1	SCAF8	psi-mi:“MI:0915”(physical association)	0.560
NAGK	ZBTB43	psi-mi:“MI:0914”(association)	0.530
MINDY3	UBB	psi-mi:“MI:0914”(association)	0.530
RPL13	RRP8	psi-mi:“MI:0914”(association)	0.530
RPLP0	GTPBP10	psi-mi:“MI:0914”(association)	0.530
SCAF8	HSPD1	psi-mi:“MI:0915”(physical association)	0.400
MYO1C	PLEKHG3	psi-mi:“MI:0914”(association)	0.350
Cbx4	DNAJB6	psi-mi:“MI:0914”(association)	0.350
Junb	RGPD3	psi-mi:“MI:0914”(association)	0.350
EMC2	TBL2	psi-mi:“MI:0914”(association)	0.350
MMGT1	DERL1	psi-mi:“MI:0914”(association)	0.350
JUN		psi-mi:“MI:0914”(association)	0.350
JUN	TPM3	psi-mi:“MI:0914”(association)	0.350
ESR1	ESYT2	psi-mi:“MI:0914”(association)	0.350
JMJD6	U2SURP	psi-mi:“MI:0914”(association)	0.350

BioGRID (89): SCAF8 (Two-hybrid), SCAF8 (Affinity Capture-RNA), SCAF8 (Affinity Capture-RNA), SCAF8 (Affinity Capture-RNA), SCAF8 (Affinity Capture-RNA), SCAF8 (Affinity Capture-MS), SCAF8 (Affinity Capture-MS), SCAF8 (Affinity Capture-MS), SCAF8 (Affinity Capture-MS), SCAF8 (Affinity Capture-MS), SCAF8 (Affinity Capture-MS), SCAF8 (Affinity Capture-MS), SCAF8 (Affinity Capture-MS), SCAF8 (Affinity Capture-MS), SCAF8 (Affinity Capture-MS)

ESM2 similar proteins: A2VDB3, A7EQA8, A7Z019, O44498, O94842, O95104, O95835, P0CB49, P34333, P34428, P46582, P51531, P51532, P97868, Q08D57, Q09345, Q09556, Q17308, Q1LY77, Q20374, Q3TKT4, Q3TLH4, Q4V7X9, Q5F3P8, Q5HZJ0, Q63623, Q63627, Q66J90, Q66KL9, Q6DIC0, Q6DID3, Q6DRG1, Q6GLQ4, Q7TSH6, Q7Z6E9, Q8BYR2, Q8CGZ0, Q8IWX8, Q8K1P7, Q8NE35

Diamond homologs: A2VDB3, F4I3B3, O13759, O22703, O60176, O94621, P08199, P09405, P10979, P13383, P19338, P20397, P27476, P31483, P32831, P38760, P39697, P49310, P49311, P52912, P60824, P60825, P60826, P70318, Q00539, Q01085, Q03250, Q03251, Q03878, Q05966, Q09442, Q0J9Y2, Q0P5L0, Q0WW84, Q10355, Q14011, Q15233, Q15427, Q1RMJ7, Q23121

SIGNOR signaling

0 interactions.

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 84 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
mRNA Splicing	8	15.4×	1e-05
Processing of Capped Intron-Containing Pre-mRNA	9	13.0×	1e-05
ZNF598 and the Ribosome-associated Quality Trigger (RQT) complex dissociate a ribosome stalled on a no-go mRNA	6	12.4×	5e-04
mRNA Polyadenylation	8	12.3×	2e-05
Peptide chain elongation	5	11.1×	3e-03
Viral mRNA Translation	5	11.1×	3e-03
PELO:HBS1L and ABCE1 dissociate a ribosome on a non-stop mRNA	5	11.0×	3e-03
Selenocysteine synthesis	5	10.5×	3e-03

GO biological processes:

GO term	Partners	Fold	FDR
ribosomal small subunit biogenesis	5	14.8×	4e-03
cytoplasmic translation	5	12.0×	7e-03
mRNA splicing, via spliceosome	9	10.7×	9e-05
RNA splicing	7	8.0×	4e-03

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	143
Likely benign	6
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

3023 predictions. Top by Δscore:

Variant	Effect	Δscore
6:154733930:GGT:G	donor_loss	1.0000
6:154773984:A:AG	acceptor_gain	1.0000
6:154773987:A:AG	acceptor_gain	1.0000
6:154773987:AGTTG:A	acceptor_loss	1.0000
6:154773988:G:GA	acceptor_gain	1.0000
6:154773988:GTT:G	acceptor_gain	1.0000
6:154773988:GTTGT:G	acceptor_gain	1.0000
6:154774070:AAGGT:A	donor_loss	1.0000
6:154774072:GGT:G	donor_loss	1.0000
6:154774073:GT:G	donor_loss	1.0000
6:154774074:T:A	donor_loss	1.0000
6:154787842:T:G	acceptor_gain	1.0000
6:154787859:A:AG	acceptor_gain	1.0000
6:154787860:G:GG	acceptor_gain	1.0000
6:154787860:GT:G	acceptor_gain	1.0000
6:154787945:G:GT	donor_gain	1.0000
6:154788018:ACAAG:A	donor_loss	1.0000
6:154788019:CAAG:C	donor_loss	1.0000
6:154788020:AAG:A	donor_loss	1.0000
6:154788021:AGGT:A	donor_loss	1.0000
6:154788022:GGTA:G	donor_loss	1.0000
6:154788023:G:C	donor_loss	1.0000
6:154788024:T:A	donor_loss	1.0000
6:154792818:TCTA:T	acceptor_loss	1.0000
6:154792821:A:AG	acceptor_gain	1.0000
6:154792822:G:GA	acceptor_gain	1.0000
6:154792822:GA:G	acceptor_gain	1.0000
6:154792822:GAGT:G	acceptor_gain	1.0000
6:154792822:GAGTA:G	acceptor_gain	1.0000
6:154795135:AGCAG:A	donor_loss	1.0000

AlphaMissense

8286 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
6:154733910:G:A	V4M	1.000
6:154733919:T:C	F7L	1.000
6:154733920:T:C	F7S	1.000
6:154733920:T:G	F7C	1.000
6:154733921:C:A	F7L	1.000
6:154733921:C:G	F7L	1.000
6:154773990:T:C	L11S	1.000
6:154773990:T:G	L11W	1.000
6:154773999:T:A	L14Q	1.000
6:154773999:T:C	L14P	1.000
6:154774014:C:A	P19Q	1.000
6:154774017:C:A	P20H	1.000
6:154774020:T:A	I21N	1.000
6:154774020:T:G	I21S	1.000
6:154774023:C:G	S22W	1.000
6:154774023:C:T	S22L	1.000
6:154774025:A:G	K23E	1.000
6:154774026:A:T	K23I	1.000
6:154774027:A:C	K23N	1.000
6:154774027:A:T	K23N	1.000
6:154774031:A:G	K25E	1.000
6:154774033:A:C	K25N	1.000
6:154774033:A:T	K25N	1.000
6:154774035:T:A	M26K	1.000
6:154774035:T:C	M26T	1.000
6:154774035:T:G	M26R	1.000
6:154774044:T:A	I29N	1.000
6:154774044:T:G	I29S	1.000
6:154774047:C:A	T30N	1.000
6:154774047:C:T	T30I	1.000

dbSNP variants (sampled 300 via entrez): RS1000061062 (6:154751810 C>G), RS1000113575 (6:154757540 T>A,C), RS1000180594 (6:154811381 T>G), RS1000191715 (6:154747440 G>A), RS1000197759 (6:154825925 G>A), RS1000232313 (6:154736614 A>G), RS1000238388 (6:154794301 T>G), RS1000333871 (6:154778815 A>G), RS1000398279 (6:154778842 A>G), RS1000409873 (6:154741529 C>G,T), RS1000410986 (6:154778554 C>T), RS1000424790 (6:154816998 C>T), RS1000455420 (6:154823472 A>G), RS1000461362 (6:154751930 A>G), RS1000467102 (6:154784492 C>A,T)

Disease associations

OMIM: gene MIM:616024 | disease phenotypes:

GenCC curated gene-disease

Mondo (1): autism spectrum disorder (MONDO:0005258)

Orphanet (1): NON RARE IN EUROPE: Autism (Orphanet:106)

HPO phenotypes

0 total (0 of 0 shown, HPO-id order):

GWAS associations

9 associations (top):

Study	Trait	p-value
GCST001607_9	Renal function-related traits (eGRFcrea)	5.000000e-06
GCST003098_16	Diabetic kidney disease	6.000000e-09
GCST003127_9	Lipoprotein (a) levels	4.000000e-10
GCST003209_5	Colorectal or endometrial cancer	2.000000e-07
GCST008058_138	Estimated glomerular filtration rate	5.000000e-15
GCST008097_25	Bisphosphonate-associated atypical femoral fracture	2.000000e-06
GCST010042_81	Asthma	3.000000e-09
GCST010043_151	Asthma	2.000000e-09
GCST011494_35	Daytime nap	6.000000e-12

EFO canonical traits (5, from GWAS)

EFO ID	Trait name
EFO:0006925	lipoprotein A measurement
EFO:0004230	endometrial neoplasm
EFO:0009958	response to bisphosphonate
EFO:0009960	atypical femoral fracture
EFO:0007828	daytime rest measurement

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

29 total (human), top 29 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Valproic Acid	affects expression, decreases expression	2
Cyclosporine	increases expression	2
Particulate Matter	increases expression, decreases expression, increases abundance, decreases reaction	2
aristolochic acid I	decreases expression	1
3-((6-(2-methoxyphenyl)pyrimidin-4-yl)amino)phenyl)methane sulfonamide	decreases expression	1
FR900359	increases phosphorylation	1
dicrotophos	increases expression	1
bisphenol A	increases expression	1
trichostatin A	affects expression	1
sodium arsenite	affects expression	1
ochratoxin A	decreases expression	1
di-n-butylphosphoric acid	affects expression	1
2,3,5-(triglutathion-S-yl)hydroquinone	increases ADP-ribosylation	1
abrine	increases expression	1
2-methyl-2H-pyrazole-3-carboxylic acid (2-methyl-4-o-tolylazophenyl)amide	decreases reaction, increases expression	1
jinfukang	decreases expression	1
3-(2-hydroxy-4-(2-methylnonan-2-yl)phenyl)cyclohexan-1-ol	decreases expression	1
Air Pollutants	decreases expression, increases abundance	1
Air Pollutants, Occupational	affects expression	1
Vehicle Emissions	decreases reaction, increases expression	1
Caffeine	affects phosphorylation	1
Enzyme Inhibitors	decreases activity, increases O-linked glycosylation	1
Formaldehyde	decreases expression	1
Ivermectin	decreases expression	1
Ribonucleotides	affects binding	1
Testosterone	decreases expression	1
Tobacco Smoke Pollution	increases methylation	1
Urethane	decreases expression	1
7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide	decreases expression	1

Clinical trials (associated diseases)

300 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
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
NCT04233502	PHASE3	WITHDRAWN	Efficacy and Safety of Slenyto for Insomnia in Children With ASD
NCT04578756	PHASE3	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	PHASE3	COMPLETED	Effect of Lithium in Patients With Autism Spectrum Disorder and Phelan-McDermid Syndrome (SHANK3 Haploinsufficiency)
NCT04725383	PHASE3	TERMINATED	Amitriptyline for Repetitive Behaviors in Autism Spectrum Disorders
NCT05212493	PHASE3	COMPLETED	The Effects of Medical Cannabis in Children With Autistic Spectrum Disorder
NCT05361707	PHASE3	UNKNOWN	Evaluating the Effects of Tasimelteon in Individuals With Autism Spectrum Disorder (ASD) and Sleep Disturbances
NCT05439616	PHASE3	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	PHASE3	RECRUITING	Safety and Tolerability Trial of Lumateperone in Pediatric Patients With Schizophrenia, Bipolar Disorder or Autism Spectrum Disorder