SREK1
gene geneOn this page
Also known as DKFZp564B176SRrp86SRrp508
Summary
SREK1 (splicing regulatory glutamic acid and lysine rich protein 1, HGNC:17882) is a protein-coding gene on chromosome 5q12.3, encoding Splicing regulatory glutamine/lysine-rich protein 1 (Q8WXA9). Participates in the regulation of alternative splicing by modulating the activity of other splice facors. It is a selective cancer dependency (DepMap: 20.4% of cell lines).
This gene encodes a member of a family of serine/arginine-rich (SR) splicing proteins containing RNA recognition motif (RRM) domains. The encoded protein interacts with other SR proteins to modulate splice site selection. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene.
Source: NCBI Gene 140890 — RefSeq curated summary.
At a glance
- GWAS associations: 4
- Clinical variants (ClinVar): 77 total
- Cancer dependency (DepMap): dependent in 20.4% of screened cell lines
- MANE Select transcript:
NM_001077199
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:17882 |
| Approved symbol | SREK1 |
| Name | splicing regulatory glutamic acid and lysine rich protein 1 |
| Location | 5q12.3 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | DKFZp564B176, SRrp86, SRrp508 |
| Ensembl gene | ENSG00000153914 |
| Ensembl biotype | protein_coding |
| OMIM | 609268 |
| Entrez | 140890 |
Gene structure
Transcript identifiers
Ensembl transcripts: 23 — 11 protein_coding, 7 retained_intron, 3 nonsense_mediated_decay, 2 protein_coding_CDS_not_defined
ENST00000284041, ENST00000334121, ENST00000380918, ENST00000518110, ENST00000519205, ENST00000519259, ENST00000520058, ENST00000520580, ENST00000520953, ENST00000521691, ENST00000522214, ENST00000522912, ENST00000523655, ENST00000523851, ENST00000524111, ENST00000612404, ENST00000868036, ENST00000868037, ENST00000936174, ENST00000936175, ENST00000936176, ENST00000972139, ENST00000972140
RefSeq mRNA: 8 — MANE Select: NM_001077199
NM_001077199, NM_001270492, NM_001323527, NM_001323529, NM_001323533, NM_001323534, NM_001323535, NM_139168
CCDS: CCDS3991, CCDS43323
Canonical transcript exons
ENST00000334121 — 12 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001915889 | 66178719 | 66183615 |
| ENSE00003470852 | 66153463 | 66153596 |
| ENSE00003501668 | 66170585 | 66170947 |
| ENSE00003511409 | 66174946 | 66175041 |
| ENSE00003570860 | 66163792 | 66163922 |
| ENSE00003579548 | 66164783 | 66164897 |
| ENSE00003600897 | 66159219 | 66159334 |
| ENSE00003616806 | 66170051 | 66170170 |
| ENSE00003628677 | 66177514 | 66177658 |
| ENSE00003665562 | 66162414 | 66162592 |
| ENSE00003788419 | 66162109 | 66162273 |
| ENSE00003843436 | 66144300 | 66144537 |
Expression profiles
Bgee: expression breadth ubiquitous, 298 present calls, max score 99.01.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 40.4813 / max 540.8552, expressed in 1818 samples.
FANTOM5 promoters (3 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 56726 | 31.6107 | 1813 |
| 56725 | 8.7623 | 1686 |
| 56727 | 0.1083 | 30 |
Top tissues by expression
300 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| sural nerve | UBERON:0015488 | 99.01 | gold quality |
| calcaneal tendon | UBERON:0003701 | 98.09 | gold quality |
| right uterine tube | UBERON:0001302 | 96.62 | gold quality |
| adrenal tissue | UBERON:0018303 | 96.53 | gold quality |
| corpus epididymis | UBERON:0004359 | 96.36 | gold quality |
| ventricular zone | UBERON:0003053 | 96.34 | gold quality |
| caput epididymis | UBERON:0004358 | 96.33 | gold quality |
| body of pancreas | UBERON:0001150 | 96.15 | gold quality |
| left lobe of thyroid gland | UBERON:0001120 | 96.07 | gold quality |
| metanephros cortex | UBERON:0010533 | 96.02 | gold quality |
| right lobe of thyroid gland | UBERON:0001119 | 95.97 | gold quality |
| thyroid gland | UBERON:0002046 | 95.86 | gold quality |
| body of uterus | UBERON:0009853 | 95.79 | gold quality |
| endometrium | UBERON:0001295 | 95.56 | gold quality |
| mucosa of stomach | UBERON:0001199 | 95.49 | gold quality |
| male germ line stem cell (sensu Vertebrata) in testis | CL:0000089 ∩ UBERON:0000473 | 95.40 | gold quality |
| cauda epididymis | UBERON:0004360 | 95.15 | gold quality |
| minor salivary gland | UBERON:0001830 | 95.13 | gold quality |
| tibial nerve | UBERON:0001323 | 95.07 | gold quality |
| colonic epithelium | UBERON:0000397 | 95.06 | gold quality |
| choroid plexus epithelium | UBERON:0003911 | 95.00 | gold quality |
| skin of abdomen | UBERON:0001416 | 94.93 | gold quality |
| right ovary | UBERON:0002118 | 94.91 | gold quality |
| endocervix | UBERON:0000458 | 94.83 | gold quality |
| bronchial epithelial cell | CL:0002328 | 94.79 | gold quality |
| seminal vesicle | UBERON:0000998 | 94.68 | gold quality |
| small intestine Peyer’s patch | UBERON:0003454 | 94.61 | gold quality |
| upper leg skin | UBERON:0004262 | 94.58 | gold quality |
| skin of hip | UBERON:0001554 | 94.57 | gold quality |
| uterus | UBERON:0000995 | 94.53 | gold quality |
Single-cell (SCXA)
Detected in 3 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ENAD-17 | no | 1107.68 |
| E-CURD-135 | no | 630.62 |
| E-ANND-3 | no | 0.00 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
274 targeting SREK1, 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-5692A | 100.00 | 74.40 | 6850 |
| HSA-MIR-5011-5P | 100.00 | 83.46 | 5820 |
| HSA-MIR-3163 | 100.00 | 77.23 | 8605 |
| HSA-MIR-3613-3P | 100.00 | 76.36 | 7965 |
| HSA-MIR-190A-3P | 100.00 | 80.35 | 5520 |
| HSA-MIR-1277-5P | 100.00 | 73.95 | 5056 |
| HSA-MIR-8485 | 100.00 | 77.57 | 4731 |
| HSA-MIR-126-5P | 100.00 | 72.71 | 3180 |
| HSA-MIR-3646 | 100.00 | 73.56 | 5283 |
| HSA-MIR-12118 | 100.00 | 65.88 | 1270 |
| HSA-MIR-5692B | 100.00 | 71.32 | 2622 |
| HSA-MIR-5692C | 100.00 | 71.32 | 2622 |
| HSA-MIR-3925-3P | 100.00 | 69.95 | 1237 |
| HSA-MIR-6740-5P | 100.00 | 65.64 | 932 |
| HSA-MIR-340-5P | 100.00 | 72.50 | 4437 |
| HSA-MIR-4282 | 99.99 | 75.36 | 6408 |
| HSA-MIR-3662 | 99.99 | 73.82 | 5684 |
| HSA-MIR-223-3P | 99.99 | 70.14 | 1140 |
| HSA-MIR-186-5P | 99.99 | 70.83 | 3707 |
| HSA-MIR-548C-3P | 99.99 | 74.01 | 7587 |
| HSA-MIR-150-5P | 99.99 | 66.69 | 1976 |
| HSA-MIR-33A-5P | 99.99 | 68.62 | 1055 |
| HSA-MIR-33B-5P | 99.99 | 68.58 | 1062 |
| HSA-MIR-371B-5P | 99.99 | 75.34 | 4759 |
| HSA-MIR-6759-5P | 99.99 | 66.54 | 785 |
| HSA-MIR-548N | 99.98 | 71.94 | 4170 |
| HSA-MIR-5696 | 99.98 | 72.36 | 4487 |
| HSA-MIR-12136 | 99.98 | 72.81 | 5713 |
| HSA-MIR-103A-3P | 99.98 | 69.14 | 1595 |
| HSA-MIR-107 | 99.98 | 69.14 | 1595 |
Functional genomics
DepMap (CRISPR cell-line fitness): dependent in 20.4% of screened cell lines.
Literature-anchored findings (GeneRIF, showing 7)
- SRrp86 can activate SRp20 and repress SC35 in a dose-dependent manner both in vitro and in vivo (PMID:11991645)
- the unique glutamic acid-lysine domain of SRrp86 plays a modulatory role controlling serine-arginine domain function (PMID:12183448)
- p18SRP is a lysine-rich zinc finger domain-containing protein that interacts with the serine-arginine-rich splicing regulatory protein SRrp86; it is downregulated in brain of Alzheimer disease patients. (PMID:15456940)
- From among the 500 splicing events exhibiting altered splicing under these conditions, the splicing of c-Jun and IkappaBbeta were validated as being regulated by SRrp86 resulting in altered regulation of their downstream targets. (PMID:20400856)
- Pathogenic SREK1 decrease in Huntington’s disease lowers TAF1 mimicking X-linked dystonia parkinsonism. (PMID:32533168)
- The rs74794265 SNP of the SREK1 Gene is Associated with COPD in Kashi, China. (PMID:34556983)
- The aberrant upregulation of exon 10-inclusive SREK1 through SRSF10 acts as an oncogenic driver in human hepatocellular carcinoma. (PMID:35296659)
Cross-species orthologs
3 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | srek1 | ENSDARG00000009764 |
| rattus_norvegicus | ENSRNOG00000068845 | |
| drosophila_melanogaster | Srp54 | FBGN0024285 |
Paralogs (1): SRSF11 (ENSG00000116754)
Protein
Protein identifiers
Splicing regulatory glutamine/lysine-rich protein 1 — Q8WXA9 (reviewed: Q8WXA9)
Alternative names: Serine/arginine-rich-splicing regulatory protein 86, Splicing factor, arginine/serine-rich 12, Splicing regulatory protein 508
All UniProt accessions (6): Q8WXA9, A0A087WY03, E5RFV3, E5RJ76, E5RK30, H0YC47
UniProt curated annotations — full annotation on UniProt →
Function. Participates in the regulation of alternative splicing by modulating the activity of other splice facors. Inhibits the splicing activity of SFRS1, SFRS2 and SFRS6. Augments the splicing activity of SFRS3.
Subunit / interactions. Homodimer. Binds SFRS1, SFRS2, SFRS3 and SFRS6. Interacts with the spliceosome. Interacts with SREK1IP1.
Subcellular location. Nucleus.
Similarity. Belongs to the splicing factor SR family.
Isoforms (2)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q8WXA9-1 | 1 | yes |
| Q8WXA9-2 | 2 |
RefSeq proteins (8): NP_001070667, NP_001257421, NP_001310456, NP_001310458, NP_001310462, NP_001310463, NP_001310464, NP_631907 (=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR000504 | RRM_dom | Domain |
| IPR012677 | Nucleotide-bd_a/b_plait_sf | Homologous_superfamily |
| IPR034192 | SREK1_RRM2 | Domain |
| IPR035979 | RBD_domain_sf | Homologous_superfamily |
Pfam: PF00076
UniProt features (14 total): compositionally biased region 6, modified residue 3, chain 1, domain 1, cross-link 1, splice variant 1, region of interest 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q8WXA9-F1 | 63.79 | 0.12 |
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 (4): 184, 363, 504, 171
Function
Pathways and Gene Ontology
Reactome pathways
0 pathways
MSigDB gene sets: 298 (showing top):
WENDT_COHESIN_TARGETS_UP, GGGACCA_MIR133A_MIR133B, E2F_Q4, E2F_Q4_01, RRAGTTGT_UNKNOWN, HNF3ALPHA_Q6, GRAESSMANN_APOPTOSIS_BY_DOXORUBICIN_DN, GRAESSMANN_RESPONSE_TO_MC_AND_DOXORUBICIN_DN, TACAATC_MIR508, FOXO1_01, GGCNKCCATNK_UNKNOWN, MONNIER_POSTRADIATION_TUMOR_ESCAPE_UP, AACWWCAANK_UNKNOWN, GTGCCTT_MIR506, MARTINEZ_RB1_TARGETS_UP
GO Biological Process (2): mRNA processing (GO:0006397), RNA splicing (GO:0008380)
GO Molecular Function (3): RNA binding (GO:0003723), nucleic acid binding (GO:0003676), protein binding (GO:0005515)
GO Cellular Component (4): nucleoplasm (GO:0005654), spliceosomal complex (GO:0005681), nuclear speck (GO:0016607), nucleus (GO:0005634)
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| RNA processing | 2 |
| binding | 2 |
| mRNA metabolic process | 1 |
| nucleic acid binding | 1 |
| nuclear lumen | 1 |
| cellular anatomical structure | 1 |
| nuclear protein-containing complex | 1 |
| ribonucleoprotein complex | 1 |
| nuclear ribonucleoprotein granule | 1 |
| intracellular membrane-bounded organelle | 1 |
Protein interactions and networks
STRING
2070 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| SREK1 | SRSF3 | P23152 | 841 |
| SREK1 | SREK1IP1 | Q8N9Q2 | 786 |
| SREK1 | SRSF1 | Q07955 | 660 |
| SREK1 | SRSF6 | Q13247 | 650 |
| SREK1 | PNISR | Q8TF01 | 508 |
| SREK1 | DDX46 | Q7L014 | 500 |
| SREK1 | LUC7L3 | O95232 | 493 |
| SREK1 | A0A1B0GW23 | A0A1B0GW23 | 479 |
| SREK1 | PRPF40A | O75400 | 476 |
| SREK1 | SRSF4 | Q08170 | 456 |
| SREK1 | SFSWAP | Q12872 | 448 |
| SREK1 | PRPF39 | Q86UA1 | 448 |
| SREK1 | ZNF572 | Q7Z3I7 | 435 |
| SREK1 | CREG2 | Q8IUH2 | 418 |
| SREK1 | LRRC40 | Q9H9A6 | 414 |
IntAct
145 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| SREK1 | SRPK2 | psi-mi:“MI:0217”(phosphorylation reaction) | 0.760 |
| LIN28A | IGF2BP3 | psi-mi:“MI:0914”(association) | 0.640 |
| SNRPA1 | U2SURP | psi-mi:“MI:0914”(association) | 0.640 |
| ZRANB2 | PIP4K2A | psi-mi:“MI:0914”(association) | 0.610 |
| NPM1 | MPHOSPH10 | psi-mi:“MI:0914”(association) | 0.610 |
| SREK1 | SRPK1 | psi-mi:“MI:0217”(phosphorylation reaction) | 0.590 |
| SRSF11 | SREK1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| SREK1 | SRSF11 | psi-mi:“MI:0915”(physical association) | 0.560 |
| RBM39 | SREK1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| SREK1 | GPRASP2 | psi-mi:“MI:0915”(physical association) | 0.560 |
| TXLNA | SREK1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| PRPF40A | SREK1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| ARL6IP4 | SREK1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| RPS3 | ZNF316 | psi-mi:“MI:0914”(association) | 0.530 |
| H1-6 | ZNF724 | psi-mi:“MI:0914”(association) | 0.530 |
| MAGEB2 | POLRMT | psi-mi:“MI:0914”(association) | 0.530 |
| PAIP2B | CASC3 | psi-mi:“MI:0914”(association) | 0.530 |
| SRPK2 | RRP9 | psi-mi:“MI:0914”(association) | 0.530 |
| NIFK | RSL1D1 | psi-mi:“MI:0914”(association) | 0.530 |
| SNRPC | SNRPGP15 | psi-mi:“MI:0914”(association) | 0.530 |
| RPS2 | MPHOSPH10 | psi-mi:“MI:0914”(association) | 0.530 |
| ABT1 | ZNF316 | psi-mi:“MI:0914”(association) | 0.530 |
| SRSF5 | CBX6 | psi-mi:“MI:0914”(association) | 0.530 |
| SREK1 | SREK1 | psi-mi:“MI:0915”(physical association) | 0.370 |
| CEP290 | SUPT5H | psi-mi:“MI:0914”(association) | 0.350 |
| CEP135 | AIMP1 | psi-mi:“MI:0914”(association) | 0.350 |
| SSX2IP | IPO7 | psi-mi:“MI:0914”(association) | 0.350 |
BioGRID (251): SREK1 (Two-hybrid), SREK1 (Two-hybrid), SREK1 (Affinity Capture-MS), SREK1 (Affinity Capture-MS), SREK1 (Affinity Capture-MS), SREK1 (Affinity Capture-MS), PNN (Affinity Capture-MS), RNPS1 (Affinity Capture-MS), JMJD6 (Affinity Capture-MS), SRSF8 (Affinity Capture-MS), SRSF10 (Affinity Capture-MS), PUF60 (Co-fractionation), SREK1 (Co-fractionation), SREK1 (Co-fractionation), SREK1 (Co-fractionation)
ESM2 similar proteins: A0JNI5, A2AJT4, D3ZTQ1, O35691, O75376, P79149, Q05519, Q12872, Q14241, Q149C2, Q3USH5, Q4KKX4, Q4R6F6, Q53F19, Q568R1, Q569Z6, Q5BJ39, Q5BL56, Q5HZB6, Q5M7V8, Q5R5X0, Q5SFM8, Q5T8P6, Q5ZM19, Q60974, Q63187, Q6DFQ2, Q6NZN0, Q6PJT7, Q6WKW9, Q6ZPZ3, Q8BZR9, Q8BZX4, Q8CB77, Q8CFC7, Q8K019, Q8K3W3, Q8K3X0, Q8N2M8, Q8QG78
Diamond homologs: A0A0D1C8Z4, A2Q848, A6NDY0, A8WLV5, B0BNE4, B3LYP1, B3P0D7, B4JUT1, B4KCD5, B4LZ88, O13620, O13741, O13845, O14327, O80678, P19683, P19684, P20397, P33240, P38922, P40561, P42696, P49313, P49314, Q00916, Q05AT9, Q05CL8, Q06106, Q08208, Q08937, Q09295, Q09301, Q10B98, Q1PEP5, Q28165, Q28ZX3, Q44554, Q44556, Q44560, Q4G0J3
SIGNOR signaling
0 interactions.
Enriched among interaction partners
Reactome pathways and GO biological processes over-represented among this gene’s 133 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 |
|---|---|---|---|
| Transport of Mature Transcript to Cytoplasm | 8 | 33.8× | 1e-09 |
| Eukaryotic Translation Initiation | 8 | 27.4× | 5e-09 |
| Cap-dependent Translation Initiation | 8 | 27.4× | 5e-09 |
| SARS-CoV-1 modulates host translation machinery | 8 | 27.4× | 5e-09 |
| Nonsense-Mediated Decay (NMD) | 10 | 25.9× | 7e-11 |
| Eukaryotic Translation Elongation | 8 | 24.8× | 1e-08 |
| Activation of the mRNA upon binding of the cap-binding complex and eIFs, and subsequent binding to 43S | 8 | 24.2× | 1e-08 |
| Peptide chain elongation | 16 | 22.6× | 5e-16 |
GO biological processes:
| GO term | Partners | Fold | FDR |
|---|---|---|---|
| negative regulation of mRNA splicing, via spliceosome | 7 | 44.3× | 2e-08 |
| regulation of mRNA splicing, via spliceosome | 6 | 44.0× | 3e-07 |
| mRNA splice site recognition | 5 | 33.2× | 2e-05 |
| cytoplasmic translation | 18 | 27.6× | 1e-18 |
| regulation of alternative mRNA splicing, via spliceosome | 9 | 18.2× | 2e-07 |
| RNA processing | 9 | 16.3× | 3e-07 |
| ribosomal small subunit biogenesis | 8 | 15.1× | 4e-06 |
| negative regulation of translation | 9 | 14.6× | 8e-07 |
Disease & clinical
Clinical variants and AI predictions
ClinVar
77 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 68 |
| Likely benign | 1 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
2459 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 5:66144533:CCGGA:C | donor_gain | 1.0000 |
| 5:66144534:CGGA:C | donor_gain | 1.0000 |
| 5:66144535:GGA:G | donor_gain | 1.0000 |
| 5:66144535:GGAG:G | donor_gain | 1.0000 |
| 5:66144536:GA:G | donor_gain | 1.0000 |
| 5:66144536:GAG:G | donor_gain | 1.0000 |
| 5:66144537:AGTA:A | donor_loss | 1.0000 |
| 5:66144538:G:GG | donor_gain | 1.0000 |
| 5:66144538:GTAA:G | donor_loss | 1.0000 |
| 5:66146747:T:TA | donor_gain | 1.0000 |
| 5:66146748:AGT:A | donor_gain | 1.0000 |
| 5:66153462:GCAAC:G | acceptor_gain | 1.0000 |
| 5:66153593:GAAG:G | donor_gain | 1.0000 |
| 5:66154234:GCCT:G | donor_gain | 1.0000 |
| 5:66159214:TGCA:T | acceptor_loss | 1.0000 |
| 5:66159216:CA:C | acceptor_loss | 1.0000 |
| 5:66159218:G:A | acceptor_loss | 1.0000 |
| 5:66159218:GGT:G | acceptor_gain | 1.0000 |
| 5:66159218:GGTA:G | acceptor_gain | 1.0000 |
| 5:66159218:GGTAA:G | acceptor_gain | 1.0000 |
| 5:66159330:CTACT:C | donor_gain | 1.0000 |
| 5:66159331:TACT:T | donor_gain | 1.0000 |
| 5:66159332:ACT:A | donor_gain | 1.0000 |
| 5:66159332:ACTGT:A | donor_loss | 1.0000 |
| 5:66159333:CT:C | donor_gain | 1.0000 |
| 5:66159334:TG:T | donor_loss | 1.0000 |
| 5:66159335:G:GG | donor_gain | 1.0000 |
| 5:66159336:TAAG:T | donor_loss | 1.0000 |
| 5:66159337:AAGTA:A | donor_loss | 1.0000 |
| 5:66162103:C:A | acceptor_gain | 1.0000 |
AlphaMissense
4098 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 5:66162223:A:G | K60E | 1.000 |
| 5:66162225:A:C | K60N | 1.000 |
| 5:66162225:A:T | K60N | 1.000 |
| 5:66162232:G:A | E63K | 1.000 |
| 5:66162235:A:T | I64F | 1.000 |
| 5:66162236:T:A | I64N | 1.000 |
| 5:66162236:T:C | I64T | 1.000 |
| 5:66162236:T:G | I64S | 1.000 |
| 5:66162242:G:C | R66T | 1.000 |
| 5:66162242:G:T | R66I | 1.000 |
| 5:66162243:A:C | R66S | 1.000 |
| 5:66162243:A:T | R66S | 1.000 |
| 5:66162244:A:C | T67P | 1.000 |
| 5:66162244:A:G | T67A | 1.000 |
| 5:66162245:C:A | T67K | 1.000 |
| 5:66162245:C:G | T67R | 1.000 |
| 5:66162245:C:T | T67M | 1.000 |
| 5:66162248:T:A | V68D | 1.000 |
| 5:66162250:T:A | Y69N | 1.000 |
| 5:66162250:T:C | Y69H | 1.000 |
| 5:66162250:T:G | Y69D | 1.000 |
| 5:66162251:A:G | Y69C | 1.000 |
| 5:66162253:G:T | V70F | 1.000 |
| 5:66162254:T:A | V70D | 1.000 |
| 5:66162256:G:A | G71R | 1.000 |
| 5:66162256:G:C | G71R | 1.000 |
| 5:66162257:G:A | G71E | 1.000 |
| 5:66162257:G:C | G71A | 1.000 |
| 5:66162257:G:T | G71V | 1.000 |
| 5:66162259:A:C | N72H | 1.000 |
dbSNP variants (sampled 300 via entrez): RS1000119510 (5:66183898 T>C), RS1000308615 (5:66145182 G>A,T), RS1000317316 (5:66166304 T>C), RS1000320648 (5:66174580 T>C), RS1000353307 (5:66156862 C>T), RS1000394464 (5:66174135 A>G,T), RS1000444859 (5:66144977 C>G,T), RS1000483434 (5:66181782 C>A,G), RS1000569406 (5:66168310 T>G), RS1000683161 (5:66183351 A>G), RS1000726395 (5:66161806 T>G), RS1000755222 (5:66183594 A>G), RS1000767166 (5:66144008 C>T), RS1000800064 (5:66161629 C>G,T), RS1000818786 (5:66149128 C>G,T)
Disease associations
OMIM: gene MIM:609268 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
4 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST006624_85 | Systolic blood pressure | 2.000000e-09 |
| GCST007000_2 | Logical memory (delayed recall) in mild cognitive impairment | 8.000000e-07 |
| GCST009391_858 | Metabolite levels | 4.000000e-06 |
| GCST009391_99 | Metabolite levels | 7.000000e-06 |
EFO canonical traits (4, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0006335 | systolic blood pressure |
| EFO:0004874 | memory performance |
| EFO:0010533 | sorbitol measurement |
| EFO:0010473 | cyclic adenosine monophosphate measurement |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
44 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Valproic Acid | affects cotreatment, decreases expression, affects expression | 6 |
| methylmercuric chloride | increases expression | 2 |
| methacrylaldehyde | increases abundance, affects cotreatment, decreases expression, increases oxidation | 2 |
| Acrolein | decreases expression, increases oxidation, increases abundance, affects cotreatment | 2 |
| Ozone | affects cotreatment, decreases expression, increases oxidation, increases abundance | 2 |
| aristolochic acid I | decreases expression | 1 |
| TAK-243 | decreases sumoylation | 1 |
| triphenyl phosphate | affects expression | 1 |
| alpha-pinene | affects cotreatment, decreases expression, increases oxidation, increases abundance | 1 |
| methylparaben | increases expression | 1 |
| perfluorodecanoic acid | increases expression | 1 |
| beta-methylcholine | affects expression | 1 |
| di-n-butylphosphoric acid | affects expression | 1 |
| perfluorooctane sulfonic acid | decreases expression | 1 |
| CGP 52608 | affects binding, increases reaction | 1 |
| 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide | affects cotreatment, decreases expression | 1 |
| torcetrapib | increases expression | 1 |
| abrine | increases expression | 1 |
| dorsomorphin | affects cotreatment, decreases expression | 1 |
| 3-(2-hydroxy-4-(2-methylnonan-2-yl)phenyl)cyclohexan-1-ol | decreases expression | 1 |
| Resveratrol | affects cotreatment, increases expression | 1 |
| Vorinostat | decreases expression | 1 |
| Air Pollutants | increases oxidation, affects cotreatment, decreases expression, increases abundance | 1 |
| Benztropine | decreases expression | 1 |
| Cadmium | decreases expression | 1 |
| Caffeine | increases phosphorylation | 1 |
| Enzyme Inhibitors | decreases activity, increases O-linked glycosylation | 1 |
| Estradiol | affects expression | 1 |
| Formaldehyde | decreases expression | 1 |
| Hydrogen Peroxide | affects 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.