SRRM4
gene geneOn this page
Also known as nSR100
Summary
SRRM4 (serine/arginine repetitive matrix 4, HGNC:29389) is a protein-coding gene on chromosome 12q24.23, encoding Serine/arginine repetitive matrix protein 4 (A7MD48). Splicing factor specifically required for neural cell differentiation.
SRRM4 promotes alternative splicing and inclusion of neural-specific exons in target mRNAs (Calarco et al., 2009 [PubMed 19737518]).
Source: NCBI Gene 84530 — RefSeq curated summary.
At a glance
- GWAS associations: 9
- Clinical variants (ClinVar): 102 total
- MANE Select transcript:
NM_194286
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:29389 |
| Approved symbol | SRRM4 |
| Name | serine/arginine repetitive matrix 4 |
| Location | 12q24.23 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | nSR100 |
| Ensembl gene | ENSG00000139767 |
| Ensembl biotype | protein_coding |
| OMIM | 613103 |
| Entrez | 84530 |
Gene structure
Transcript identifiers
Ensembl transcripts: 8 — 5 protein_coding_CDS_not_defined, 2 protein_coding, 1 nonsense_mediated_decay
ENST00000267260, ENST00000534886, ENST00000537597, ENST00000545224, ENST00000641899, ENST00000641910, ENST00000651431, ENST00000902270
RefSeq mRNA: 1 — MANE Select: NM_194286
NM_194286
CCDS: CCDS44994
Canonical transcript exons
ENST00000267260 — 13 exons
| Exon | Start | End |
|---|---|---|
| ENSE00000940093 | 119102236 | 119102382 |
| ENSE00000940098 | 119145381 | 119145685 |
| ENSE00000940099 | 119151017 | 119151220 |
| ENSE00000940100 | 119153539 | 119153649 |
| ENSE00000940101 | 119154243 | 119154383 |
| ENSE00001111306 | 118981541 | 118982013 |
| ENSE00001250091 | 119156495 | 119163051 |
| ENSE00003467392 | 119116937 | 119117008 |
| ENSE00003568418 | 119125381 | 119125479 |
| ENSE00003579685 | 119122070 | 119122120 |
| ENSE00003617666 | 119120250 | 119120276 |
| ENSE00003617723 | 119130678 | 119130834 |
| ENSE00003629750 | 119114278 | 119114364 |
Expression profiles
Bgee: expression breadth ubiquitous, 184 present calls, max score 94.25.
FANTOM5 (CAGE): breadth broad, TPM avg 5.9661 / max 721.1407, expressed in 264 samples.
FANTOM5 promoters (7 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 128280 | 4.3585 | 239 |
| 128279 | 0.8160 | 163 |
| 128281 | 0.3125 | 93 |
| 128278 | 0.1949 | 85 |
| 206921 | 0.1874 | 73 |
| 128277 | 0.0812 | 39 |
| 128286 | 0.0157 | 4 |
Top tissues by expression
259 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| cerebellar vermis | UBERON:0004720 | 94.25 | gold quality |
| cortical plate | UBERON:0005343 | 93.69 | gold quality |
| cerebellar cortex | UBERON:0002129 | 93.32 | gold quality |
| cerebellar hemisphere | UBERON:0002245 | 93.29 | gold quality |
| cerebellum | UBERON:0002037 | 93.21 | gold quality |
| right hemisphere of cerebellum | UBERON:0014890 | 93.14 | gold quality |
| ganglionic eminence | UBERON:0004023 | 90.34 | gold quality |
| middle temporal gyrus | UBERON:0002771 | 89.78 | gold quality |
| Brodmann (1909) area 23 | UBERON:0013554 | 88.70 | gold quality |
| primary visual cortex | UBERON:0002436 | 88.62 | gold quality |
| occipital lobe | UBERON:0002021 | 87.31 | gold quality |
| superior frontal gyrus | UBERON:0002661 | 86.77 | gold quality |
| postcentral gyrus | UBERON:0002581 | 85.59 | gold quality |
| parietal lobe | UBERON:0001872 | 85.53 | gold quality |
| right frontal lobe | UBERON:0002810 | 84.87 | gold quality |
| frontal cortex | UBERON:0001870 | 84.62 | gold quality |
| frontal lobe | UBERON:0016525 | 84.62 | gold quality |
| entorhinal cortex | UBERON:0002728 | 84.44 | gold quality |
| Brodmann (1909) area 9 | UBERON:0013540 | 84.31 | gold quality |
| neocortex | UBERON:0001950 | 84.17 | gold quality |
| prefrontal cortex | UBERON:0000451 | 83.73 | gold quality |
| dorsolateral prefrontal cortex | UBERON:0009834 | 83.72 | gold quality |
| left ventricle myocardium | UBERON:0006566 | 82.93 | gold quality |
| cardiac muscle of right atrium | UBERON:0003379 | 82.84 | gold quality |
| cerebral cortex | UBERON:0000956 | 82.56 | gold quality |
| anterior cingulate cortex | UBERON:0009835 | 81.87 | gold quality |
| lateral nuclear group of thalamus | UBERON:0002736 | 81.16 | gold quality |
| Brodmann (1909) area 46 | UBERON:0006483 | 80.86 | gold quality |
| brain | UBERON:0000955 | 78.38 | gold quality |
| temporal lobe | UBERON:0001871 | 77.39 | gold quality |
Single-cell (SCXA)
Detected in 9 experiment(s), a significant marker in 8.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-GEOD-137537 | yes | 2390.87 |
| E-HCAD-35 | yes | 63.65 |
| E-HCAD-25 | yes | 42.63 |
| E-GEOD-93593 | yes | 12.09 |
| E-MTAB-9067 | yes | 11.57 |
| E-HCAD-5 | yes | 7.72 |
| E-GEOD-84465 | yes | 6.63 |
| E-ANND-3 | yes | 5.68 |
| E-GEOD-83139 | no | 2.89 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
255 targeting SRRM4, 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-8485 | 100.00 | 77.57 | 4731 |
| HSA-MIR-5692A | 100.00 | 74.40 | 6850 |
| HSA-MIR-4673 | 100.00 | 66.64 | 1490 |
| HSA-MIR-4533 | 100.00 | 69.48 | 2758 |
| HSA-MIR-4747-5P | 100.00 | 67.90 | 2681 |
| HSA-MIR-126-5P | 100.00 | 72.71 | 3180 |
| HSA-MIR-5196-5P | 100.00 | 67.98 | 2761 |
| HSA-MIR-3064-3P | 100.00 | 70.09 | 1254 |
| HSA-MIR-6870-5P | 99.99 | 68.55 | 2115 |
| HSA-MIR-548AW | 99.99 | 72.57 | 3559 |
| HSA-MIR-4645-5P | 99.98 | 65.81 | 1284 |
| HSA-MIR-23B-5P | 99.98 | 66.07 | 587 |
| HSA-MIR-4723-5P | 99.97 | 68.70 | 2034 |
| HSA-MIR-5698 | 99.97 | 68.49 | 2029 |
| HSA-MIR-7111-5P | 99.97 | 68.48 | 2062 |
| HSA-MIR-6825-5P | 99.96 | 69.81 | 3431 |
| HSA-MIR-6778-3P | 99.96 | 67.29 | 2693 |
| HSA-MIR-1468-3P | 99.96 | 72.74 | 3797 |
| HSA-LET-7C-3P | 99.95 | 73.42 | 2862 |
| HSA-MIR-6721-5P | 99.93 | 68.92 | 2981 |
| HSA-MIR-539-5P | 99.93 | 70.30 | 2855 |
| HSA-MIR-10523-5P | 99.91 | 69.22 | 2038 |
| HSA-MIR-3671 | 99.90 | 73.04 | 3897 |
| HSA-MIR-627-3P | 99.90 | 71.42 | 3316 |
| HSA-MIR-95-5P | 99.89 | 72.17 | 3973 |
| HSA-MIR-6783-3P | 99.89 | 67.92 | 2059 |
| HSA-MIR-1343-3P | 99.89 | 66.78 | 1815 |
| HSA-MIR-9902 | 99.89 | 69.15 | 2250 |
| HSA-MIR-4731-5P | 99.89 | 67.23 | 2537 |
| HSA-MIR-6780A-5P | 99.88 | 66.69 | 2776 |
Literature-anchored findings (GeneRIF, showing 13)
- findings show that nSR100 plays a role in the alternative splicing of REST in small cell lung cancer (SCLC); study provides new insight into the role of nSR100 in the expression of sREST, possibly in the pathogenesis of SCLC (PMID:23928058)
- Neural microexons are regulated by the neuronal-specific splicing factor nSR100/SRRM4, through its binding to adjacent intronic enhancer motifs; neural microexons are frequently misregulated in the brains of individuals with autism spectrum disorder, and this misregulation is associated with reduced levels of nSR100. (PMID:25525873)
- The splicing of REST by SRRM4 could promote the neuroendocrine phenotype in CRPC. (PMID:26071481)
- SRRM4 regulates alternative splicing programs to drive neuroendocrine prostate cancer progression (an aggressive subtype of castration-resistant prostate cancer) under androgen receptor pathway inhibition. (PMID:27180064)
- Neuronal activity-dependent microexons are nSR100 targets and are misregulated in autism. (PMID:27984743)
- data indicate that SRRM4 regulates alternative RNA splicing of the Bif-1 gene that enables PCa cells resistant to apoptotic stimuli under anti-cancer therapies, and may contribute to AdPC progression into t-NEPC. (PMID:29759485)
- a novel mechanism by which SRRM4 drives neuroendocrine prostate cancer progression via a pluripotency gene network, is reported. (PMID:30100395)
- SRRM4 expression in castrate-resistant pancreatic cancer is highly correlated with neuroendocrine prostate cancer and poor survival. (PMID:30155992)
- RNA Splicing of the BHC80 Gene Contributes to Neuroendocrine Prostate Cancer Progression. (PMID:30910347)
- A gapmer antisense oligonucleotide targeting SRRM4 is a novel therapeutic medicine for lung cancer. (PMID:31110284)
- Alternative splicing of LSD1+8a in neuroendocrine prostate cancer is mediated by SRRM4. (PMID:32403054)
- SRRM4 Expands the Repertoire of Circular RNAs by Regulating Microexon Inclusion. (PMID:33207694)
- RNA Splicing Factors SRRM3 and SRRM4 Distinguish Molecular Phenotypes of Castration-Resistant Neuroendocrine Prostate Cancer. (PMID:34312180)
Cross-species orthologs
2 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| mus_musculus | Srrm4 | ENSMUSG00000063919 |
| rattus_norvegicus | Srrm4 | ENSRNOG00000001141 |
Protein
Protein identifiers
Serine/arginine repetitive matrix protein 4 — A7MD48 (reviewed: A7MD48)
Alternative names: Medulloblastoma antigen MU-MB-2.76, Neural-specific serine/arginine repetitive splicing factor of 100 kDa
All UniProt accessions (3): A7MD48, A0A286YF08, V5T9A0
UniProt curated annotations — full annotation on UniProt →
Function. Splicing factor specifically required for neural cell differentiation. Acts in conjunction with nPTB/PTBP2 by binding directly to its regulated target transcripts and promotes neural-specific exon inclusion in many genes that function in neural cell differentiation. Required to promote the inclusion of neural-specific exon 10 in nPTB/PTBP2, leading to increased expression of neural-specific nPTB/PTBP2. Also promotes the inclusion of exon 16 in DAAM1 in neuron extracts. Promotes alternative splicing of REST transcripts to produce REST isoform 3 (REST4) with greatly reduced repressive activity, thereby activating expression of REST targets in neural cells. Plays an important role during embryonic development as well as in the proper functioning of the adult nervous system. Regulates alternative splicing events in genes with important neuronal functions.
Subcellular location. Nucleus.
Tissue specificity. Specifically expressed in neuronal cells (at protein level). Expressed in the cerebellum.
Post-translational modifications. Phosphorylated.
Similarity. Belongs to the nSR100 family.
RefSeq proteins (1): NP_919262* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR029360 | SRRM_C | Domain |
| IPR052109 | SRRM_Domain-Containing | Family |
Pfam: PF15230
UniProt features (25 total): compositionally biased region 18, sequence variant 3, region of interest 2, chain 1, sequence conflict 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-A7MD48-F1 | 48.31 | 0.00 |
Function
Pathways and Gene Ontology
Reactome pathways
0 pathways
MSigDB gene sets: 145 (showing top):
GSE18804_BRAIN_VS_COLON_TUMORAL_MACROPHAGE_UP, ATF_B, RNGTGGGC_UNKNOWN, TAATAAT_MIR126, BENPORATH_ES_WITH_H3K27ME3, GOBP_SENSORY_PERCEPTION_OF_MECHANICAL_STIMULUS, GOBP_NEURON_MATURATION, GOBP_ALTERNATIVE_MRNA_SPLICING_VIA_SPLICEOSOME, GOBP_NEUROGENESIS, CACCAGC_MIR138, GGGTGGRR_PAX4_03, GOBP_ANATOMICAL_STRUCTURE_MATURATION, TCF4_Q5, ATF1_Q6, GOBP_CELL_MATURATION
GO Biological Process (8): regulation of alternative mRNA splicing, via spliceosome (GO:0000381), mRNA processing (GO:0006397), nervous system development (GO:0007399), sensory perception of sound (GO:0007605), RNA splicing (GO:0008380), cell differentiation (GO:0030154), neuron maturation (GO:0042551), regulation of RNA splicing (GO:0043484)
GO Molecular Function (4): mRNA binding (GO:0003729), identical protein binding (GO:0042802), RNA binding (GO:0003723), protein binding (GO:0005515)
GO Cellular Component (1): nucleus (GO:0005634)
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| RNA processing | 2 |
| alternative mRNA splicing, via spliceosome | 1 |
| regulation of mRNA splicing, via spliceosome | 1 |
| mRNA metabolic process | 1 |
| system development | 1 |
| sensory perception of mechanical stimulus | 1 |
| cellular developmental process | 1 |
| cell maturation | 1 |
| neuron development | 1 |
| RNA splicing | 1 |
| regulation of gene expression | 1 |
| regulation of primary metabolic process | 1 |
| RNA binding | 1 |
| protein binding | 1 |
| nucleic acid binding | 1 |
| binding | 1 |
| intracellular membrane-bounded organelle | 1 |
Protein interactions and networks
STRING
1706 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| SRRM4 | PTBP2 | Q9UKA9 | 926 |
| SRRM4 | DAAM1 | Q9Y4D1 | 899 |
| SRRM4 | SRSF11 | Q05519 | 786 |
| SRRM4 | NOVA1 | P51513 | 647 |
| SRRM4 | NOVA2 | Q9UNW9 | 636 |
| SRRM4 | KHDRBS1 | Q07666 | 635 |
| SRRM4 | RNPS1 | Q15287 | 632 |
| SRRM4 | SRRM2 | Q9UQ35 | 622 |
| SRRM4 | PTBP1 | P26599 | 597 |
| SRRM4 | RBFOX1 | Q9NWB1 | 593 |
| SRRM4 | U2AF1 | Q01081 | 577 |
| SRRM4 | SFSWAP | Q12872 | 542 |
| SRRM4 | REST | Q13127 | 499 |
| SRRM4 | MYO7A | P78427 | 497 |
| SRRM4 | MBNL1 | Q9NR56 | 481 |
IntAct
92 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| ARL6IP4 | SRRM4 | psi-mi:“MI:0915”(physical association) | 0.560 |
| SRRM4 | CDC37 | psi-mi:“MI:0915”(physical association) | 0.560 |
| SRRM4 | RSRC1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| SRRM4 | RBMX2 | psi-mi:“MI:0915”(physical association) | 0.560 |
| SRRM4 | ZNF699 | psi-mi:“MI:0915”(physical association) | 0.560 |
| SRRM4 | ZRSR2 | psi-mi:“MI:0915”(physical association) | 0.560 |
| SRRM4 | C16orf87 | psi-mi:“MI:0915”(physical association) | 0.560 |
| SRRM4 | LUC7L2 | psi-mi:“MI:0915”(physical association) | 0.560 |
| SRRM4 | U2AF1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| SRRM4 | SRRM4 | psi-mi:“MI:0915”(physical association) | 0.560 |
| SRRM4 | CLK1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| SRRM4 | MMTAG2 | psi-mi:“MI:0915”(physical association) | 0.560 |
| SRRM4 | RBM39 | psi-mi:“MI:0915”(physical association) | 0.560 |
| SRRM4 | ZRSR2P1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| SRRM4 | ZNF286A | psi-mi:“MI:0915”(physical association) | 0.560 |
| SRRM4 | SRSF11 | psi-mi:“MI:0915”(physical association) | 0.560 |
| SRRM4 | SRRM1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| SRRM4 | RNPS1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| SRRM4 | WDR5 | psi-mi:“MI:0915”(physical association) | 0.560 |
| SRRM4 | FAM9B | psi-mi:“MI:0915”(physical association) | 0.560 |
| SRRM4 | RBM25 | psi-mi:“MI:0915”(physical association) | 0.560 |
| SRRM4 | CLK4 | psi-mi:“MI:0915”(physical association) | 0.560 |
| SRRM4 | ZNF124 | psi-mi:“MI:0915”(physical association) | 0.560 |
| SRRM4 | SNIP1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| SRRM4 | LUZP4 | psi-mi:“MI:0915”(physical association) | 0.560 |
| SRRM4 | MCRS1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| SRRM4 | AKAP17A | psi-mi:“MI:0915”(physical association) | 0.560 |
| SRRM4 | SNRNP70 | psi-mi:“MI:0915”(physical association) | 0.560 |
BioGRID (50): SRRM4 (Affinity Capture-MS), SRRM4 (Two-hybrid), SRRM4 (Two-hybrid), SRRM4 (Two-hybrid), SRRM4 (Two-hybrid), SRRM4 (Two-hybrid), SRRM4 (Two-hybrid), SRRM4 (Two-hybrid), SRRM4 (Two-hybrid), SRRM4 (Two-hybrid), SRRM4 (Two-hybrid), SRRM4 (Two-hybrid), C1orf35 (Two-hybrid), LUC7L2 (Two-hybrid), C16orf87 (Two-hybrid)
ESM2 similar proteins: A4D2P6, A6NNA2, A7MD48, A8IHN8, C9JLR9, G3V9M2, O00287, O95644, P04198, P12755, P18444, P49796, P49797, P51608, P55199, Q00566, Q08DA0, Q0PHV7, Q13387, Q1W6H9, Q29RS4, Q3UPL5, Q3YEC7, Q4QQU1, Q4VA45, Q5XKK7, Q61976, Q6NV74, Q6R891, Q7Z6J2, Q80WV7, Q80YR4, Q86UK7, Q8BKA3, Q8N554, Q8R149, Q8R4T5, Q8TF61, Q8VCG9, Q95LG8
Diamond homologs: A7MD48, P0CB65, Q80WV7, Q8BKA3, A6NNA2, Q5AP89, Q6C0M9, Q8BTI8, Q9U213, Q9UQ35
SIGNOR signaling
0 interactions.
Enriched among interaction partners
Reactome pathways and GO biological processes over-represented among this gene’s 28 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 3’-end processing | 5 | 54.7× | 1e-06 |
| Transport of Mature mRNA derived from an Intron-Containing Transcript | 5 | 42.3× | 2e-06 |
| mRNA Splicing | 5 | 30.5× | 7e-06 |
| Processing of Capped Intron-Containing Pre-mRNA | 6 | 27.4× | 1e-06 |
| mRNA Splicing - Major Pathway | 9 | 27.3× | 8e-10 |
| mRNA Polyadenylation | 5 | 24.4× | 2e-05 |
| Metabolism of RNA | 6 | 13.9× | 3e-05 |
GO biological processes:
| GO term | Partners | Fold | FDR |
|---|---|---|---|
| RNA splicing | 10 | 35.3× | 6e-12 |
| mRNA splicing, via spliceosome | 8 | 29.3× | 6e-09 |
| mRNA processing | 6 | 18.9× | 1e-05 |
Disease & clinical
Clinical variants and AI predictions
ClinVar
102 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 93 |
| Likely benign | 4 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
2268 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 12:118982010:CAAGG:C | donor_loss | 1.0000 |
| 12:118982014:GTAAT:G | donor_loss | 1.0000 |
| 12:119101505:G:GT | donor_gain | 1.0000 |
| 12:119101505:G:T | donor_gain | 1.0000 |
| 12:119102231:TGTA:T | acceptor_loss | 1.0000 |
| 12:119102232:GTA:G | acceptor_loss | 1.0000 |
| 12:119102234:A:AG | acceptor_gain | 1.0000 |
| 12:119102234:AG:A | acceptor_gain | 1.0000 |
| 12:119102235:G:A | acceptor_loss | 1.0000 |
| 12:119102235:G:GG | acceptor_gain | 1.0000 |
| 12:119102235:GG:G | acceptor_gain | 1.0000 |
| 12:119102235:GGAC:G | acceptor_gain | 1.0000 |
| 12:119102235:GGACA:G | acceptor_gain | 1.0000 |
| 12:119114274:ACAGT:A | acceptor_gain | 1.0000 |
| 12:119114275:C:G | acceptor_gain | 1.0000 |
| 12:119114275:CAGT:C | acceptor_loss | 1.0000 |
| 12:119114276:A:AG | acceptor_gain | 1.0000 |
| 12:119114276:A:C | acceptor_loss | 1.0000 |
| 12:119114276:AGT:A | acceptor_gain | 1.0000 |
| 12:119114277:G:GA | acceptor_gain | 1.0000 |
| 12:119114277:GT:G | acceptor_gain | 1.0000 |
| 12:119114277:GTG:G | acceptor_gain | 1.0000 |
| 12:119114277:GTGC:G | acceptor_gain | 1.0000 |
| 12:119114277:GTGCC:G | acceptor_gain | 1.0000 |
| 12:119114361:GGAG:G | donor_gain | 1.0000 |
| 12:119114362:G:GT | donor_gain | 1.0000 |
| 12:119114362:GAG:G | donor_gain | 1.0000 |
| 12:119114363:AG:A | donor_loss | 1.0000 |
| 12:119114365:G:GG | donor_gain | 1.0000 |
| 12:119114366:T:G | donor_loss | 1.0000 |
AlphaMissense
3952 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 12:118981926:T:C | F15S | 1.000 |
| 12:119154377:T:C | I509T | 1.000 |
| 12:118981925:T:C | F15L | 0.999 |
| 12:118981926:T:G | F15C | 0.999 |
| 12:118981927:C:A | F15L | 0.999 |
| 12:118981927:C:G | F15L | 0.999 |
| 12:118981928:T:A | W16R | 0.999 |
| 12:118981928:T:C | W16R | 0.999 |
| 12:118981940:T:C | F20L | 0.999 |
| 12:118981942:C:A | F20L | 0.999 |
| 12:118981942:C:G | F20L | 0.999 |
| 12:118981970:A:C | S30R | 0.999 |
| 12:118981972:C:A | S30R | 0.999 |
| 12:118981972:C:G | S30R | 0.999 |
| 12:118981977:T:A | I32N | 0.999 |
| 12:118981977:T:G | I32S | 0.999 |
| 12:119154337:C:A | R496S | 0.999 |
| 12:119154355:A:C | S502R | 0.999 |
| 12:119154357:C:A | S502R | 0.999 |
| 12:119154357:C:G | S502R | 0.999 |
| 12:119154374:G:C | R508T | 0.999 |
| 12:119154374:G:T | R508M | 0.999 |
| 12:119154375:G:C | R508S | 0.999 |
| 12:119154375:G:T | R508S | 0.999 |
| 12:119154377:T:A | I509K | 0.999 |
| 12:119154377:T:G | I509R | 0.999 |
| 12:119156503:A:T | K514I | 0.999 |
| 12:119156504:A:C | K514N | 0.999 |
| 12:119156504:A:T | K514N | 0.999 |
| 12:119156505:C:A | R515S | 0.999 |
dbSNP variants (sampled 300 via entrez): RS1000013536 (12:119140875 C>G), RS1000015427 (12:119100203 C>G,T), RS1000018901 (12:119060583 G>A), RS1000052422 (12:118983299 G>A,T), RS1000088306 (12:119100425 G>C,T), RS1000091327 (12:119089289 G>C), RS1000094051 (12:119146941 A>G), RS1000112693 (12:119128045 C>G,T), RS1000139094 (12:119026925 T>C), RS1000139478 (12:119107637 T>A), RS1000166741 (12:119002403 G>A), RS1000214129 (12:119008802 A>T), RS1000225825 (12:119044753 A>C,G), RS1000251454 (12:119032148 A>C), RS1000267998 (12:119054251 G>A)
Disease associations
OMIM: gene MIM:613103 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
9 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST001762_100 | Obesity-related traits | 3.000000e-06 |
| GCST003445_9 | Response to cyclophosphamide in systemic lupus erythematosus with lupus nephritis | 4.000000e-06 |
| GCST003771_19 | Loneliness | 8.000000e-06 |
| GCST003772_17 | Loneliness (linear analysis) | 5.000000e-06 |
| GCST003992_47 | Photic sneeze reflex | 3.000000e-12 |
| GCST004307_4 | Facial morphology (factor 3, length of philtrum) | 4.000000e-08 |
| GCST004867_27 | Systemic lupus erythematosus | 5.000000e-06 |
| GCST007002_6 | Cerebrospinal fluid t-tau levels in normal cognition | 2.000000e-09 |
| GCST011176_23 | Stroke | 2.000000e-07 |
EFO canonical traits (4, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0003940 | physical activity |
| EFO:0007865 | loneliness measurement |
| EFO:0007887 | autosomal dominant compelling helio-ophthalmic outburst syndrome |
| EFO:0004760 | t-tau measurement |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
17 total (human), top 17 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Valproic Acid | affects cotreatment, increases expression, affects expression | 3 |
| bisphenol A | decreases methylation, increases expression | 2 |
| trichostatin A | affects cotreatment, increases expression | 2 |
| Resveratrol | affects cotreatment, decreases expression | 2 |
| methylmercuric chloride | increases expression | 1 |
| sodium arsenite | increases expression | 1 |
| entinostat | decreases expression | 1 |
| 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide | affects cotreatment, increases expression | 1 |
| dorsomorphin | affects cotreatment, increases expression | 1 |
| Sunitinib | decreases expression | 1 |
| Vorinostat | decreases expression | 1 |
| Acetaminophen | decreases expression | 1 |
| Atrazine | decreases expression | 1 |
| Benzo(a)pyrene | increases methylation | 1 |
| Copper | affects cotreatment, decreases expression | 1 |
| Plant Extracts | affects cotreatment, decreases expression | 1 |
| Tobacco Smoke Pollution | decreases expression | 1 |
Clinical trials (associated diseases)
0 trials via MONDO — disease-level, not drug-specific.
Related Atlas pages
No linked Atlas pages yet — the cross-entity mesh grows as the corpus expands.