SNRPC

Summary

SNRPC (small nuclear ribonucleoprotein polypeptide C, HGNC:11157) is a protein-coding gene on chromosome 6p21.31, encoding U1 small nuclear ribonucleoprotein C (P09234). Component of the spliceosomal U1 snRNP, which is essential for recognition of the pre-mRNA 5’ splice-site and the subsequent assembly of the spliceosome. It is a common-essential gene (DepMap: required in 97.7% of cancer cell lines).

This gene encodes one of the specific protein components of the U1 small nuclear ribonucleoprotein (snRNP) particle required for the formation of the spliceosome. The encoded protein participates in the processing of nuclear precursor messenger RNA splicing. snRNP particles are attacked by autoantibodies frequently produced by patients with connective tissue diseases. The genome contains several pseudogenes of this functional gene. Alternative splicing results in a non-coding transcript variant.

Source: NCBI Gene 6631 — RefSeq curated summary.

At a glance

• GWAS associations: 15
• Clinical variants (ClinVar): 23 total
• Cancer dependency (DepMap): dependent in 97.7% of screened cell lines (common-essential)
• MANE Select transcript: NM_003093

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:11157
Approved symbol	SNRPC
Name	small nuclear ribonucleoprotein polypeptide C
Location	6p21.31
Locus type	gene with protein product
Status	Approved
Aliases	U1-C, Yhc1
Ensembl gene	ENSG00000124562
Ensembl biotype	protein_coding
OMIM	603522
Entrez	6631

Gene structure

Transcript identifiers

Ensembl transcripts: 7 — 6 protein_coding, 1 protein_coding_CDS_not_defined

ENST00000244520, ENST00000374017, ENST00000374018, ENST00000474635, ENST00000909265, ENST00000924366, ENST00000924367

RefSeq mRNA: 1 — MANE Select: NM_003093 NM_003093

CCDS: CCDS34436

Canonical transcript exons

ENST00000244520 — 6 exons

Exon	Start	End
ENSE00001462178	34757505	34757551
ENSE00003462834	34767908	34767997
ENSE00003519822	34762595	34762703
ENSE00003545850	34757912	34757954
ENSE00003679836	34770291	34770395
ENSE00003843848	34773446	34773857

Expression profiles

Bgee: expression breadth ubiquitous, 290 present calls, max score 98.62.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 60.1849 / max 585.5837, expressed in 1819 samples.

FANTOM5 promoters (4 alternative TSS)

Promoter ID	TPM avg	Samples expressed
67376	57.2196	1819
67374	1.7916	1121
67375	1.0143	529
67373	0.1594	69

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
apex of heart	UBERON:0002098	98.62	gold quality
left testis	UBERON:0004533	98.45	gold quality
right testis	UBERON:0004534	98.35	gold quality
right atrium auricular region	UBERON:0006631	98.06	gold quality
heart left ventricle	UBERON:0002084	97.93	gold quality
cardiac ventricle	UBERON:0002082	97.79	gold quality
mucosa of transverse colon	UBERON:0004991	97.78	gold quality
ventricular zone	UBERON:0003053	97.67	gold quality
ganglionic eminence	UBERON:0004023	97.64	gold quality
cardiac atrium	UBERON:0002081	97.62	gold quality
hindlimb stylopod muscle	UBERON:0004252	97.51	gold quality
heart	UBERON:0000948	97.45	gold quality
gastrocnemius	UBERON:0001388	97.44	gold quality
type B pancreatic cell	CL:0000169	97.39	silver quality
muscle of leg	UBERON:0001383	97.31	gold quality
right uterine tube	UBERON:0001302	97.19	gold quality
embryo	UBERON:0000922	97.17	gold quality
C1 segment of cervical spinal cord	UBERON:0006469	97.17	gold quality
body of stomach	UBERON:0001161	97.15	gold quality
granulocyte	CL:0000094	97.08	gold quality
testis	UBERON:0000473	97.05	gold quality
left uterine tube	UBERON:0001303	96.95	gold quality
body of pancreas	UBERON:0001150	96.94	gold quality
body of uterus	UBERON:0009853	96.93	gold quality
lower esophagus muscularis layer	UBERON:0035833	96.92	gold quality
lower esophagus	UBERON:0013473	96.91	gold quality
lymph node	UBERON:0000029	96.90	gold quality
muscle layer of sigmoid colon	UBERON:0035805	96.89	gold quality
metanephros cortex	UBERON:0010533	96.88	gold quality
left coronary artery	UBERON:0001626	96.86	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	yes	12.03

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

21 targeting SNRPC, 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-590-3P	99.96	74.34	6478
HSA-MIR-23A-3P	99.95	74.24	3163
HSA-MIR-23B-3P	99.95	74.24	3163
HSA-MIR-23C	99.95	73.92	3192
HSA-MIR-4753-3P	99.90	71.03	3786
HSA-MIR-3919	99.87	69.45	2489
HSA-MIR-369-3P	99.85	70.52	2264
HSA-MIR-130B-5P	99.83	68.50	1888
HSA-MIR-4766-5P	99.75	69.23	2662
HSA-MIR-1976	99.74	65.48	1127
HSA-MIR-6887-3P	99.66	67.83	1778
HSA-MIR-4672	99.50	71.58	2893
HSA-MIR-766-5P	99.47	67.91	2225
HSA-MIR-4728-3P	99.47	68.94	981
HSA-MIR-548AV-3P	99.43	68.50	1721
HSA-MIR-4646-3P	98.65	66.98	693
HSA-MIR-216B-3P	98.55	67.19	1223
HSA-MIR-548AT-3P	98.37	64.98	580
HSA-MIR-548AY-3P	98.37	65.14	562
HSA-MIR-939-5P	97.10	65.80	1579
HSA-MIR-1343-5P	96.48	66.06	1506

Functional genomics

DepMap (CRISPR cell-line fitness): dependent in 97.7% of screened cell lines, common-essential.

Literature-anchored findings (GeneRIF, showing 3)

• binding of TIA-1 in the vicinity of a 5’ ss helps to stabilize U1 snRNP recruitment, at least in part, via a direct interaction with U1-C (PMID:12486009)
• these studies establish potentially converging disease mechanisms in amyotrophic lateral sclerosis (ALS) and spinal muscular atrophy, with ALS-causative mutants acquiring properties representing both gain and loss of function. (PMID:25625564)
• SNRPC promotes hepatocellular carcinoma cell motility by inducing epithelial-mesenchymal transition. (PMID:33934562)

Cross-species orthologs

4 orthologs

Organism	Symbol	Gene ID
danio_rerio	snrpc	ENSDARG00000009871
mus_musculus	Snrpc	ENSMUSG00000024217
rattus_norvegicus		ENSRNOG00000088795
caenorhabditis_elegans		WBGENE00017238

Protein

Protein identifiers

U1 small nuclear ribonucleoprotein C — P09234 (reviewed: P09234)

All UniProt accessions (4): A0A0A0MRR7, P09234, Q5TAL2, Q5TAL4

UniProt curated annotations — full annotation on UniProt →

Function. Component of the spliceosomal U1 snRNP, which is essential for recognition of the pre-mRNA 5’ splice-site and the subsequent assembly of the spliceosome. SNRPC/U1-C is directly involved in initial 5’ splice-site recognition for both constitutive and regulated alternative splicing. The interaction with the 5’ splice-site seems to precede base-pairing between the pre-mRNA and the U1 snRNA. Stimulates commitment or early (E) complex formation by stabilizing the base pairing of the 5’ end of the U1 snRNA and the 5’ splice-site region.

Subunit / interactions. Component of the U1 snRNP. The U1 snRNP is composed of the U1 snRNA and the 7 core Sm proteins SNRPB, SNRPD1, SNRPD2, SNRPD3, SNRPE, SNRPF and SNRPG that assemble in a heptameric protein ring on the Sm site of the small nuclear RNA to form the core snRNP, and at least 3 U1 snRNP-specific proteins SNRNP70/U1-70K, SNRPA/U1-A and SNRPC/U1-C. SNRPC/U1-C interacts with U1 snRNA and the 5’ splice-site region of the pre-mRNA. Interacts (via N-terminus) with TIA1 (via C-terminus); thereby promoting spliceosomal U1 snRNP recruitment to 5’ splice sites.

Subcellular location. Nucleus.

Similarity. Belongs to the U1 small nuclear ribonucleoprotein C family.

RefSeq proteins (1): NP_003084* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR000690	Matrin/U1-C_Znf_C2H2	Domain
IPR003604	Matrin/U1-like-C_Znf_C2H2	Domain
IPR013085	U1-CZ_Znf_C2H2	Domain
IPR017340	U1_snRNP-C	Family
IPR036236	Znf_C2H2_sf	Homologous_superfamily

Pfam: PF06220

UniProt features (22 total): mutagenesis site 5, sequence conflict 4, modified residue 3, strand 2, region of interest 2, helix 2, chain 1, zinc finger region 1, turn 1, compositionally biased region 1

Structure

Experimental structures (PDB)

6 structures.

PDB	Method	Resolution (Å)
6ELD	X-RAY DIFFRACTION	2.48
7VPX	ELECTRON MICROSCOPY	3
6QX9	ELECTRON MICROSCOPY	3.28
4PJO	X-RAY DIFFRACTION	3.3
3CW1	X-RAY DIFFRACTION	5.49
2VRD	SOLUTION NMR

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-P09234-F1	71.85	0.28

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 (3): 8, 17, 52

Mutagenesis-validated functional residues (5):

Position	Phenotype
24	abolishes the binding to u1 snrnp.
25	no effect.
30	abolishes the binding to u1 snrnp.
6	abolishes the binding to u1 snrnp.
9	abolishes the binding to u1 snrnp.

Function

Pathways and Gene Ontology

Reactome pathways

5 pathways

ID	Pathway
R-HSA-72163	mRNA Splicing - Major Pathway
R-HSA-9770562	mRNA Polyadenylation
R-HSA-72172	mRNA Splicing
R-HSA-72203	Processing of Capped Intron-Containing Pre-mRNA
R-HSA-8953854	Metabolism of RNA

MSigDB gene sets: 175 (showing top): MODULE_52, MODULE_151, STARK_PREFRONTAL_CORTEX_22Q11_DELETION_DN, MODULE_16, PUJANA_CHEK2_PCC_NETWORK, MODULE_388, MUELLER_PLURINET, REACTOME_MRNA_3_END_PROCESSING, REACTOME_PROCESSING_OF_CAPPED_INTRON_CONTAINING_PRE_MRNA, GOBP_PROTEIN_RNA_COMPLEX_ORGANIZATION, GOBP_RNA_SPLICING, GARCIA_TARGETS_OF_FLI1_AND_DAX1_DN, GARY_CD5_TARGETS_DN, REACTOME_MRNA_SPLICING, GOBP_MRNA_SPLICE_SITE_RECOGNITION

GO Biological Process (3): spliceosomal snRNP assembly (GO:0000387), mRNA 5’-splice site recognition (GO:0000395), mRNA splicing, via spliceosome (GO:0000398)

GO Molecular Function (10): RNA binding (GO:0003723), single-stranded RNA binding (GO:0003727), mRNA binding (GO:0003729), zinc ion binding (GO:0008270), pre-mRNA 5’-splice site binding (GO:0030627), protein homodimerization activity (GO:0042803), nucleic acid binding (GO:0003676), protein binding (GO:0005515), U1 snRNA binding (GO:0030619), metal ion binding (GO:0046872)

GO Cellular Component (8): commitment complex (GO:0000243), nucleus (GO:0005634), nucleoplasm (GO:0005654), spliceosomal complex (GO:0005681), U1 snRNP (GO:0005685), Cajal body (GO:0015030), U2-type prespliceosome (GO:0071004), ribonucleoprotein complex (GO:1990904)

Reactome top-level categories

Rollup of top-4 pathways:

Category	Pathways
mRNA Splicing	1
mRNA 3’-end processing	1
Processing of Capped Intron-Containing Pre-mRNA	1
Metabolism of RNA	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
RNA binding	2
binding	2
U2-type spliceosomal complex	2
U1 snRNP	2
mRNA splicing, via spliceosome	1
protein-RNA complex assembly	1
mRNA splice site recognition	1
mRNA cis splicing, via spliceosome	1
RNA splicing, via transesterification reactions with bulged adenosine as nucleophile	1
mRNA processing	1
nucleic acid binding	1
transition metal ion binding	1
pre-mRNA binding	1
identical protein binding	1
protein dimerization activity	1
snRNA binding	1
cation binding	1
intracellular membrane-bounded organelle	1
nuclear lumen	1
cellular anatomical structure	1
nuclear protein-containing complex	1
ribonucleoprotein complex	1
spliceosomal snRNP complex	1
nuclear ribonucleoprotein granule	1
U2 snRNP	1
prespliceosome	1
protein-containing complex	1

Protein interactions and networks

STRING

2646 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
SNRPC	SNRPA	P09012	999
SNRPC	SNRNP70	P08621	999
SNRPC	SNRPB	P14678	953
SNRPC	TIA1	P31483	953
SNRPC	EWSR1	Q01844	925
SNRPC	SNRPD3	P43331	923
SNRPC	SNRPE	P08578	899
SNRPC	SNRPD2	P43330	897
SNRPC	RBM25	P49756	896
SNRPC	LUC7L	Q9NQ29	880
SNRPC	SF3B4	Q15427	866
SNRPC	SNRPD1	P13641	851
SNRPC	DDX23	Q9BUQ8	827
SNRPC	SNRPA1	P09661	819
SNRPC	SNRPB2	P08579	789

IntAct

289 interactions, top by confidence:

A	B	Type	Score
SNRPB	SNRNP70	psi-mi:“MI:0915”(physical association)	0.830
HNRNPDL	SNRPC	psi-mi:“MI:0915”(physical association)	0.670
BCAS2	SNRPC	psi-mi:“MI:0915”(physical association)	0.670
SNRPC	TIA1	psi-mi:“MI:0915”(physical association)	0.600
SNRPC	TIA1	psi-mi:“MI:0407”(direct interaction)	0.600
BAG4	SNRPC	psi-mi:“MI:0915”(physical association)	0.560
KRTAP6-3	SNRPC	psi-mi:“MI:0915”(physical association)	0.560
SNRPC	MAGED1	psi-mi:“MI:0915”(physical association)	0.560
SNRPC	PRR20D	psi-mi:“MI:0915”(physical association)	0.560
SNRPC	RUNX1	psi-mi:“MI:0915”(physical association)	0.560
SNRPC	KLF1	psi-mi:“MI:0915”(physical association)	0.560
SNRPC	TLE5	psi-mi:“MI:0915”(physical association)	0.560
	SNRPC	psi-mi:“MI:0915”(physical association)	0.560
SNRPC	HSD17B14	psi-mi:“MI:0915”(physical association)	0.560
SNRPC	EXOSC8	psi-mi:“MI:0915”(physical association)	0.560
SNRPC	FUBP1	psi-mi:“MI:0915”(physical association)	0.560
SNRPC	FHL3	psi-mi:“MI:0915”(physical association)	0.560
SNRPC	SEC23B	psi-mi:“MI:0915”(physical association)	0.560
WWP2	SNRPC	psi-mi:“MI:0915”(physical association)	0.560
GIGYF1	SNRPC	psi-mi:“MI:0915”(physical association)	0.560
SNRPC	ARHGAP9	psi-mi:“MI:0915”(physical association)	0.560
SNRPC	RBPMS	psi-mi:“MI:0915”(physical association)	0.560
CYSRT1	SNRPC	psi-mi:“MI:0915”(physical association)	0.560
SNRPC	KRTAP19-2	psi-mi:“MI:0915”(physical association)	0.560
SNRPC	METTL27	psi-mi:“MI:0915”(physical association)	0.560

BioGRID (596): SNRPC (Two-hybrid), SNRPC (Two-hybrid), SNRPC (Two-hybrid), MAGED1 (Two-hybrid), RBPMS (Two-hybrid), WWP2 (Two-hybrid), EXOSC8 (Two-hybrid), FAM168A (Two-hybrid), SS18L1 (Two-hybrid), SPAG8 (Two-hybrid), NCAPH2 (Two-hybrid), HSD17B14 (Two-hybrid), RBM11 (Two-hybrid), RNF31 (Two-hybrid), RFX6 (Two-hybrid)

ESM2 similar proteins: A7EYK3, A7SEP9, A8NYM5, A8XW44, B0JYS7, B7Q2M2, C0NN85, C3Z1P5, C5XYW4, C5XZK6, C7YRT4, D0NHA2, D3B3B7, D3ZCL3, D5GDH4, E0VI98, E1C6F0, E2RGI3, E3KIY6, E3LAN7, E3X5D6, F6HQ26, F6TFD9, F7ARS3, O43670, P09234, P33240, P90815, Q03369, Q16IW3, Q1K7T5, Q1RLC9, Q298E0, Q32PA0, Q4N6K2, Q4WQM6, Q56XE4, Q5BBX9, Q5KC16, Q5R8K4

Diamond homologs: A5JZQ2, A7EYK3, A7SEP9, A8NYM5, A8XW44, B0JYS7, B3LC82, B7Q2M2, C0NN85, C3Z1P5, C4YIU5, C5XYW4, C5XZK6, C7YRT4, D0NHA2, D3B3B7, D3ZCL3, D5GDH4, E0VI98, E1C6F0, E2RGI3, E3KIY6, E3LAN7, E3X5D6, F6HQ26, F6TFD9, F7ARS3, P09234, P90815, Q03369, Q05900, Q16IW3, Q1K7T5, Q1RLC9, Q298E0, Q32PA0, Q4N6K2, Q4P2Q5, Q4UJ14, Q4WQM6

SIGNOR signaling

1 interactions.

A	Effect	B	Mechanism
SNRPC	“form complex”	“U1 snRNP complex”	binding

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 90 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
snRNP Assembly	5	18.6×	4e-04
mRNA Splicing	5	9.6×	5e-03
Keratinization	9	8.8×	9e-05
Processing of Capped Intron-Containing Pre-mRNA	6	8.7×	3e-03
Neddylation	10	8.3×	7e-05
Metabolism of RNA	8	5.8×	3e-03

GO biological processes:

GO term	Partners	Fold	FDR
spliceosomal snRNP assembly	5	41.5×	5e-05
intrinsic apoptotic signaling pathway	5	25.6×	3e-04
G1/S transition of mitotic cell cycle	5	14.3×	2e-03
RNA splicing	7	8.8×	1e-03
mRNA splicing, via spliceosome	6	7.8×	7e-03

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	13
Likely benign	0
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

636 predictions. Top by Δscore:

Variant	Effect	Δscore
6:34757548:CCAA:C	donor_gain	1.0000
6:34757549:CAA:C	donor_gain	1.0000
6:34757550:AA:A	donor_gain	1.0000
6:34757551:AG:A	donor_loss	1.0000
6:34757552:G:C	donor_loss	1.0000
6:34757552:G:GG	donor_gain	1.0000
6:34762592:CAGC:C	acceptor_loss	1.0000
6:34762593:A:AG	acceptor_gain	1.0000
6:34762594:G:GT	acceptor_gain	1.0000
6:34762594:GC:G	acceptor_gain	1.0000
6:34762594:GCC:G	acceptor_gain	1.0000
6:34762594:GCCA:G	acceptor_gain	1.0000
6:34762594:GCCAT:G	acceptor_gain	1.0000
6:34762699:AACAA:A	donor_gain	1.0000
6:34762700:ACAA:A	donor_gain	1.0000
6:34762701:CAA:C	donor_gain	1.0000
6:34762702:AA:A	donor_gain	1.0000
6:34762704:G:GG	donor_gain	1.0000
6:34762704:G:T	donor_loss	1.0000
6:34762705:TAT:T	donor_loss	1.0000
6:34762860:GATA:G	donor_gain	1.0000
6:34767897:A:AG	acceptor_gain	1.0000
6:34767904:A:AG	acceptor_gain	1.0000
6:34767904:AAAGC:A	acceptor_gain	1.0000
6:34767905:A:G	acceptor_gain	1.0000
6:34767993:CCTTC:C	donor_gain	1.0000
6:34767994:CTTC:C	donor_gain	1.0000
6:34767995:TTC:T	donor_gain	1.0000
6:34767996:TC:T	donor_gain	1.0000
6:34767998:G:GG	donor_gain	1.0000

AlphaMissense

1062 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
6:34757913:T:A	F4I	1.000
6:34757913:T:C	F4L	1.000
6:34757914:T:C	F4S	1.000
6:34757915:T:A	F4L	1.000
6:34757915:T:G	F4L	1.000
6:34757919:T:C	C6R	1.000
6:34757920:G:A	C6Y	1.000
6:34757920:G:T	C6F	1.000
6:34757921:T:G	C6W	1.000
6:34757922:G:C	D7H	1.000
6:34757923:A:T	D7V	1.000
6:34757925:T:C	Y8H	1.000
6:34757926:A:G	Y8C	1.000
6:34757928:T:A	C9S	1.000
6:34757928:T:C	C9R	1.000
6:34757929:G:A	C9Y	1.000
6:34757929:G:C	C9S	1.000
6:34757929:G:T	C9F	1.000
6:34757930:C:G	C9W	1.000
6:34757931:G:C	D10H	1.000
6:34757932:A:T	D10V	1.000
6:34757940:C:T	L13F	1.000
6:34757941:T:A	L13H	1.000
6:34757941:T:C	L13P	1.000
6:34757941:T:G	L13R	1.000
6:34757943:A:G	T14A	1.000
6:34757944:C:A	T14N	1.000
6:34757944:C:T	T14I	1.000
6:34757946:C:A	H15N	1.000
6:34757946:C:G	H15D	1.000

dbSNP variants (sampled 300 via entrez): RS1000041439 (6:34762044 G>A,C), RS1000121919 (6:34761925 A>G), RS1000155744 (6:34761784 C>T), RS1000428327 (6:34755736 C>T), RS1000515488 (6:34773978 A>G), RS1001049935 (6:34757287 C>T), RS1001058973 (6:34763788 C>T), RS1001385685 (6:34756463 A>T), RS1001500352 (6:34756237 CA>C,CAA), RS1001782438 (6:34768770 AG>A), RS1002011125 (6:34762482 G>T), RS1002386868 (6:34757985 A>G), RS1002499992 (6:34757651 G>A), RS1002789044 (6:34770202 A>G), RS1002910017 (6:34764367 T>C)

Disease associations

OMIM: gene MIM:603522 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

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

GWAS associations

15 associations (top):

Study	Trait	p-value
GCST002463_2	Systemic lupus erythematosus	7.000000e-06
GCST002899_19	HDL cholesterol	6.000000e-10
GCST007240_9	Obese vs. thin	5.000000e-09
GCST007293_46	Body fat distribution (arm fat ratio)	2.000000e-06
GCST007294_11	Body fat distribution (trunk fat ratio)	1.000000e-16
GCST007294_30	Body fat distribution (trunk fat ratio)	1.000000e-09
GCST007295_155	Body fat distribution (leg fat ratio)	1.000000e-24
GCST007295_161	Body fat distribution (leg fat ratio)	5.000000e-16
GCST010002_50	Refractive error	4.000000e-34
GCST010204_201	Low density lipoprotein cholesterol levels	6.000000e-15
GCST010396_75	Gut microbiota (bacterial taxa, hurdle binary method)	9.000000e-06
GCST011365_21	Myocardial infarction	1.000000e-07
GCST012332_79	Multisite chronic pain	9.000000e-09
GCST90000025_493	Appendicular lean mass	2.000000e-12
GCST90020028_674	Hip circumference adjusted for BMI	4.000000e-13

EFO canonical traits (8, from GWAS)

EFO ID	Trait name
EFO:0004612	high density lipoprotein cholesterol measurement
EFO:0007041	obese body mass index status
EFO:0004341	body fat distribution
EFO:0004611	low density lipoprotein cholesterol measurement
EFO:0007874	gut microbiome measurement
EFO:0010100	multisite chronic pain
EFO:0004980	appendicular lean mass
EFO:0008039	BMI-adjusted hip circumference

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

25 total (human), top 25 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
bisphenol A	affects expression, decreases expression	3
sodium arsenite	increases expression, decreases expression	2
FR900359	decreases phosphorylation	1
alpha-pinene	affects cotreatment, increases oxidation, increases abundance	1
beta-lapachone	increases expression	1
arsenite	affects binding, increases reaction	1
perfluorooctanoic acid	decreases expression	1
methacrylaldehyde	affects cotreatment, increases oxidation, increases abundance	1
yessotoxin	decreases expression	1
seocalcitol	decreases expression	1
CGP 52608	affects binding, increases reaction	1
2-palmitoylglycerol	increases expression	1
K 7174	decreases expression	1
Temozolomide	increases expression	1
Acrolein	affects cotreatment, increases oxidation, increases abundance	1
Air Pollutants	affects cotreatment, increases abundance, increases oxidation	1
Caffeine	affects phosphorylation	1
Cisplatin	increases expression	1
Enzyme Inhibitors	increases O-linked glycosylation, decreases activity	1
Ivermectin	decreases expression	1
Lead	affects expression	1
Ozone	affects cotreatment, increases oxidation, increases abundance	1
Aflatoxin B1	increases expression	1
Cadmium Chloride	decreases expression	1
Volatile Organic Compounds	affects cotreatment, increases oxidation	1

Clinical trials (associated diseases)

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