TSR1
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Also known as FLJ10534
Summary
TSR1 (TSR1 ribosome maturation factor, HGNC:25542) is a protein-coding gene on chromosome 17p13.3, encoding Pre-rRNA-processing protein TSR1 homolog (Q2NL82). Required during maturation of the 40S ribosomal subunit in the nucleolus. It is a common-essential gene (DepMap: required in 100.0% of cancer cell lines).
Enables RNA binding activity. Predicted to be involved in endonucleolytic cleavage of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) and maturation of SSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA). Predicted to be located in nucleolus.
Source: NCBI Gene 55720 — RefSeq curated summary.
At a glance
- Gene–disease (curated): idiopathic spontaneous coronary artery dissection (Limited, GenCC)
- GWAS associations: 6
- Clinical variants (ClinVar): 140 total
- Cancer dependency (DepMap): dependent in 100.0% of screened cell lines (common-essential)
- MANE Select transcript:
NM_018128
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:25542 |
| Approved symbol | TSR1 |
| Name | TSR1 ribosome maturation factor |
| Location | 17p13.3 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | FLJ10534 |
| Ensembl gene | ENSG00000167721 |
| Ensembl biotype | protein_coding |
| OMIM | 611214 |
| Entrez | 55720 |
Gene structure
Transcript identifiers
Ensembl transcripts: 12 — 9 protein_coding, 2 nonsense_mediated_decay, 1 retained_intron
ENST00000301364, ENST00000571806, ENST00000575049, ENST00000576112, ENST00000576202, ENST00000909712, ENST00000915542, ENST00000915543, ENST00000915544, ENST00000915545, ENST00000947905, ENST00000947906
RefSeq mRNA: 1 — MANE Select: NM_018128
NM_018128
CCDS: CCDS32525
Canonical transcript exons
ENST00000301364 — 15 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001116104 | 2324504 | 2324578 |
| ENSE00001116105 | 2330515 | 2330625 |
| ENSE00001116106 | 2334472 | 2334896 |
| ENSE00001116107 | 2329343 | 2329475 |
| ENSE00001116108 | 2324689 | 2324829 |
| ENSE00001116110 | 2332169 | 2332359 |
| ENSE00001116113 | 2330947 | 2331109 |
| ENSE00001116114 | 2333557 | 2333716 |
| ENSE00001116116 | 2332961 | 2333124 |
| ENSE00001116117 | 2336037 | 2336140 |
| ENSE00001434347 | 2322396 | 2324374 |
| ENSE00002683031 | 2336331 | 2336457 |
| ENSE00003525447 | 2325304 | 2325420 |
| ENSE00003562245 | 2335260 | 2335394 |
| ENSE00003639590 | 2335511 | 2335730 |
Expression profiles
Bgee: expression breadth ubiquitous, 300 present calls, max score 98.87.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 39.5427 / max 296.1890, expressed in 1816 samples.
FANTOM5 promoters (1 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 163820 | 39.5427 | 1816 |
Top tissues by expression
300 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| cervix squamous epithelium | UBERON:0006922 | 98.87 | gold quality |
| nipple | UBERON:0002030 | 98.21 | gold quality |
| mucosa of paranasal sinus | UBERON:0005030 | 98.19 | gold quality |
| buccal mucosa cell | CL:0002336 | 98.16 | gold quality |
| renal medulla | UBERON:0000362 | 97.96 | gold quality |
| male germ cell | CL:0000015 | 97.80 | gold quality |
| sperm | CL:0000019 | 97.79 | gold quality |
| cardia of stomach | UBERON:0001162 | 97.78 | gold quality |
| ventral tegmental area | UBERON:0002691 | 97.78 | gold quality |
| superficial temporal artery | UBERON:0001614 | 97.71 | gold quality |
| lateral globus pallidus | UBERON:0002476 | 97.65 | gold quality |
| olfactory bulb | UBERON:0002264 | 97.59 | gold quality |
| superior surface of tongue | UBERON:0007371 | 97.56 | gold quality |
| blood vessel layer | UBERON:0004797 | 97.41 | gold quality |
| pylorus | UBERON:0001166 | 97.35 | gold quality |
| pericardium | UBERON:0002407 | 97.27 | gold quality |
| subthalamic nucleus | UBERON:0001906 | 97.17 | gold quality |
| inferior vagus X ganglion | UBERON:0005363 | 97.10 | gold quality |
| lateral nuclear group of thalamus | UBERON:0002736 | 97.05 | gold quality |
| periodontal ligament | UBERON:0008266 | 97.03 | gold quality |
| trigeminal ganglion | UBERON:0001675 | 97.02 | gold quality |
| medulla oblongata | UBERON:0001896 | 96.91 | gold quality |
| pharyngeal mucosa | UBERON:0000355 | 96.89 | gold quality |
| saphenous vein | UBERON:0007318 | 96.88 | gold quality |
| type B pancreatic cell | CL:0000169 | 96.76 | gold quality |
| superior vestibular nucleus | UBERON:0007227 | 96.73 | gold quality |
| tongue | UBERON:0001723 | 96.70 | gold quality |
| substantia nigra pars compacta | UBERON:0001965 | 96.68 | gold quality |
| body of tongue | UBERON:0011876 | 96.66 | gold quality |
| vena cava | UBERON:0004087 | 96.54 | 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)
107 targeting TSR1, 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-4425 | 100.00 | 67.59 | 1049 |
| HSA-MIR-10401-5P | 99.99 | 65.79 | 948 |
| HSA-MIR-186-5P | 99.99 | 70.83 | 3707 |
| HSA-MIR-150-5P | 99.99 | 66.69 | 1976 |
| HSA-MIR-3148 | 99.97 | 75.06 | 6478 |
| HSA-MIR-3605-5P | 99.96 | 67.12 | 932 |
| HSA-MIR-1250-3P | 99.96 | 70.04 | 4038 |
| HSA-MIR-6778-3P | 99.96 | 67.29 | 2693 |
| HSA-MIR-128-3P | 99.95 | 71.17 | 2484 |
| HSA-MIR-216A-3P | 99.95 | 71.19 | 2505 |
| HSA-MIR-1305 | 99.91 | 71.43 | 3443 |
| HSA-MIR-9902 | 99.89 | 69.15 | 2250 |
| HSA-MIR-3681-3P | 99.88 | 70.46 | 2254 |
| HSA-MIR-7978 | 99.86 | 66.90 | 856 |
| HSA-MIR-3133 | 99.81 | 70.92 | 3506 |
| HSA-MIR-4766-5P | 99.75 | 69.23 | 2662 |
| HSA-MIR-4530 | 99.69 | 66.47 | 1509 |
| HSA-MIR-5093 | 99.67 | 69.26 | 2291 |
| HSA-MIR-6762-3P | 99.66 | 66.94 | 1188 |
| HSA-MIR-7157-5P | 99.66 | 69.33 | 1829 |
| HSA-MIR-3177-5P | 99.65 | 70.38 | 1174 |
| HSA-MIR-3679-3P | 99.64 | 69.88 | 1599 |
| HSA-MIR-4743-3P | 99.62 | 68.12 | 2095 |
| HSA-MIR-4310 | 99.59 | 68.84 | 2527 |
| HSA-MIR-12122 | 99.56 | 69.33 | 1672 |
| HSA-MIR-6733-3P | 99.54 | 67.80 | 1281 |
| HSA-MIR-105-5P | 99.54 | 69.24 | 2060 |
| HSA-MIR-7853-5P | 99.54 | 69.30 | 2055 |
| HSA-MIR-103A-1-5P | 99.39 | 67.78 | 1545 |
| HSA-MIR-103A-2-5P | 99.39 | 67.72 | 1577 |
Functional genomics
DepMap (CRISPR cell-line fitness): dependent in 100.0% of screened cell lines, common-essential.
Literature-anchored findings (GeneRIF, showing 3)
- hTsr1 is involved downstream in nuclear export of the pre-40S particles. (PMID:20805244)
- This study describes the clinical characteristics of the Chinese Han population with Spontaneous Coronary Artery Dissection and identified TSR1 as a potential causal gene, which might bring about a further progress in diagnosis and treatment of the disorder. (PMID:31296287)
- a novel congenital cataract candidate gene TSR1 was identified by whole genome sequencing and Sanger sequencing in a Chinese congenital cataract family (PMID:32102773)
Cross-species orthologs
5 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | tsr1 | ENSDARG00000007744 |
| mus_musculus | Tsr1 | ENSMUSG00000038335 |
| rattus_norvegicus | Tsr1 | ENSRNOG00000002980 |
| drosophila_melanogaster | Tsr1 | FBGN0037073 |
| caenorhabditis_elegans | WBGENE00006497 |
Paralogs (1): BMS1 (ENSG00000165733)
Protein
Protein identifiers
Pre-rRNA-processing protein TSR1 homolog — Q2NL82 (reviewed: Q2NL82)
All UniProt accessions (4): Q2NL82, I3L1Q5, I3L4E8, I3L4T0
UniProt curated annotations — full annotation on UniProt →
Function. Required during maturation of the 40S ribosomal subunit in the nucleolus.
Subcellular location. Nucleus. Nucleolus.
Similarity. Belongs to the TRAFAC class translation factor GTPase superfamily. Bms1-like GTPase family. TSR1 subfamily.
RefSeq proteins (1): NP_060598* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR007034 | BMS1_TSR1_C | Domain |
| IPR012948 | AARP2CN | Domain |
| IPR030387 | G_Bms1/Tsr1_dom | Domain |
| IPR039761 | Bms1/Tsr1 | Family |
Pfam: PF04950, PF08142, PF22298
UniProt features (85 total): strand 48, helix 14, turn 12, sequence variant 4, sequence conflict 2, compositionally biased region 2, chain 1, domain 1, region of interest 1
Structure
Experimental structures (PDB)
17 structures.
| PDB | Method | Resolution (Å) |
|---|---|---|
| 6ZMT | ELECTRON MICROSCOPY | 3 |
| 7WTU | ELECTRON MICROSCOPY | 3 |
| 7WTZ | ELECTRON MICROSCOPY | 3 |
| 7WTT | ELECTRON MICROSCOPY | 3.1 |
| 7WTX | ELECTRON MICROSCOPY | 3.1 |
| 6ZN5 | ELECTRON MICROSCOPY | 3.2 |
| 7WTS | ELECTRON MICROSCOPY | 3.2 |
| 7WTW | ELECTRON MICROSCOPY | 3.2 |
| 7WU0 | ELECTRON MICROSCOPY | 3.3 |
| 7WTV | ELECTRON MICROSCOPY | 3.5 |
| 6G18 | ELECTRON MICROSCOPY | 3.6 |
| 8ZDD | ELECTRON MICROSCOPY | 3.7 |
| 8ZDC | ELECTRON MICROSCOPY | 3.8 |
| 6G4S | ELECTRON MICROSCOPY | 4 |
| 6G51 | ELECTRON MICROSCOPY | 4.1 |
| 6G4W | ELECTRON MICROSCOPY | 4.5 |
| 6G53 | ELECTRON MICROSCOPY | 4.5 |
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q2NL82-F1 | 80.62 | 0.48 |
Function
Pathways and Gene Ontology
Reactome pathways
1 pathways
| ID | Pathway |
|---|---|
| R-HSA-6791226 | Major pathway of rRNA processing in the nucleolus and cytosol |
MSigDB gene sets: 209 (showing top):
GSE45365_NK_CELL_VS_CD11B_DC_DN, GSE45365_NK_CELL_VS_BCELL_UP, RNGTGGGC_UNKNOWN, GOBP_RIBOSOME_BIOGENESIS, SHEPARD_CRASH_AND_BURN_MUTANT_UP, GOBP_MATURATION_OF_SSU_RRNA, CACCAGC_MIR138, MONNIER_POSTRADIATION_TUMOR_ESCAPE_UP, PUJANA_CHEK2_PCC_NETWORK, AP1_Q4_01, MILI_PSEUDOPODIA_HAPTOTAXIS_UP, GOBP_RIBOSOMAL_SMALL_SUBUNIT_BIOGENESIS, GOBP_MATURATION_OF_SSU_RRNA_FROM_TRICISTRONIC_RRNA_TRANSCRIPT_SSU_RRNA_5_8S_RRNA_LSU_RRNA, GROSS_HYPOXIA_VIA_HIF1A_UP, TGANTCA_AP1_C
GO Biological Process (3): maturation of SSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000462), endonucleolytic cleavage of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000479), ribosome biogenesis (GO:0042254)
GO Molecular Function (5): RNA binding (GO:0003723), GTPase activity (GO:0003924), GTP binding (GO:0005525), U3 snoRNA binding (GO:0034511), protein binding (GO:0005515)
GO Cellular Component (4): nucleoplasm (GO:0005654), nucleolus (GO:0005730), cytosol (GO:0005829), nucleus (GO:0005634)
Reactome top-level categories
Rollup of top-1 pathways:
| Category | Pathways |
|---|---|
| rRNA processing in the nucleus and cytosol | 1 |
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| nuclear lumen | 2 |
| cellular anatomical structure | 2 |
| maturation of SSU-rRNA | 1 |
| rRNA processing | 1 |
| ribonucleoprotein complex biogenesis | 1 |
| nucleic acid binding | 1 |
| ribonucleoside triphosphate phosphatase activity | 1 |
| guanyl ribonucleotide binding | 1 |
| purine ribonucleoside triphosphate binding | 1 |
| snoRNA binding | 1 |
| binding | 1 |
| intracellular membraneless organelle | 1 |
| cytoplasm | 1 |
| intracellular membrane-bounded organelle | 1 |
Protein interactions and networks
STRING
2538 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| TSR1 | BYSL | Q13895 | 963 |
| TSR1 | LTV1 | Q96GA3 | 943 |
| TSR1 | RIOK2 | Q9BVS4 | 937 |
| TSR1 | TSR2 | Q969E8 | 902 |
| TSR1 | RCL1 | Q9Y2P8 | 892 |
| TSR1 | PNO1 | Q9NRX1 | 883 |
| TSR1 | NOB1 | Q9ULX3 | 877 |
| TSR1 | TSR3 | Q9UJK0 | 810 |
| TSR1 | RIOK1 | Q9BRS2 | 805 |
| TSR1 | RRP12 | Q5JTH9 | 744 |
| TSR1 | POLR2B | P30876 | 674 |
| TSR1 | MCM7 | P33993 | 667 |
| TSR1 | WDR12 | Q9GZL7 | 665 |
| TSR1 | RPS3 | P23396 | 664 |
| TSR1 | TXNL4B | Q9NX01 | 655 |
IntAct
146 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| XPC | CETN3 | psi-mi:“MI:0914”(association) | 0.730 |
| PTK2 | TGFB1I1 | psi-mi:“MI:0914”(association) | 0.680 |
| TSR1 | RPS3 | psi-mi:“MI:0914”(association) | 0.640 |
| BYSL | PARN | psi-mi:“MI:0914”(association) | 0.640 |
| TSR1 | CIDEB | psi-mi:“MI:0915”(physical association) | 0.560 |
| TSR1 | RHBDD2 | psi-mi:“MI:0915”(physical association) | 0.560 |
| ZBTB48 | ZBTB24 | psi-mi:“MI:0914”(association) | 0.530 |
| TSR1 | PARN | psi-mi:“MI:0914”(association) | 0.530 |
| ABCE1 | EIF3H | psi-mi:“MI:0914”(association) | 0.530 |
| KPNB1 | POM121C | psi-mi:“MI:0914”(association) | 0.530 |
| RIOK2 | BYSL | psi-mi:“MI:0914”(association) | 0.530 |
| TSR1 | RPSA | psi-mi:“MI:0914”(association) | 0.530 |
| LIN28B | ELAVL2 | psi-mi:“MI:0914”(association) | 0.530 |
| H3C1 | SMCHD1 | psi-mi:“MI:2364”(proximity) | 0.410 |
| TSR1 | H1-5 | psi-mi:“MI:0915”(physical association) | 0.400 |
| Csnk1e | psi-mi:“MI:0915”(physical association) | 0.400 | |
| SDC1 | ILVBL | psi-mi:“MI:0915”(physical association) | 0.400 |
| TSR1 | YWHAZ | psi-mi:“MI:0915”(physical association) | 0.400 |
| PCNA | TSR1 | psi-mi:“MI:0915”(physical association) | 0.370 |
| Rpl35 | RPS6 | psi-mi:“MI:0914”(association) | 0.350 |
| Eif3a | RPSA | psi-mi:“MI:0914”(association) | 0.350 |
| Cep78 | ING5 | psi-mi:“MI:0914”(association) | 0.350 |
| RPL10 | RPS6 | psi-mi:“MI:0914”(association) | 0.350 |
| Srp72 | psi-mi:“MI:0914”(association) | 0.350 | |
| CDK2AP1 | MTA3 | psi-mi:“MI:0914”(association) | 0.350 |
| Rrbp1 | PIPSL | psi-mi:“MI:0914”(association) | 0.350 |
| NOP56 | C12orf43 | psi-mi:“MI:0914”(association) | 0.350 |
| IBTK | POP7 | psi-mi:“MI:0914”(association) | 0.350 |
| HNRNPU | psi-mi:“MI:0914”(association) | 0.350 |
BioGRID (446): TSR1 (Affinity Capture-MS), TSR1 (Affinity Capture-MS), TSR1 (Affinity Capture-MS), TSR1 (Affinity Capture-MS), TSR1 (Affinity Capture-MS), HSP90B1 (Co-fractionation), LTV1 (Co-fractionation), MRPL2 (Co-fractionation), POLR1C (Co-fractionation), POLR1D (Co-fractionation), RPS7 (Co-fractionation), TSR1 (Co-fractionation), TSR1 (Co-fractionation), TSR1 (Co-fractionation), TSR1 (Co-fractionation)
ESM2 similar proteins: A3GFS1, A3LXF0, A5DBG1, A6ZMA9, A7TTC4, O13956, O74774, O74945, O94653, P09880, P14906, P23615, P25038, P32769, P33755, P36048, P41814, P53893, Q04660, Q07381, Q08965, Q09915, Q19329, Q2NL82, Q3MNT0, Q54JN0, Q54YA7, Q5A6Q4, Q5R434, Q5SWD9, Q5XGY1, Q61WR2, Q6BKK7, Q6BRG6, Q6BRJ9, Q6BVE1, Q6C7B9, Q6CF35, Q6CIH3, Q6CLF6
Diamond homologs: O13956, Q07381, Q2NL82, Q5R434, Q5SWD9, Q5XGY1, Q9VP47, Q19329, Q54YA7, Q61WR2
SIGNOR signaling
0 interactions.
Enriched among interaction partners
Reactome pathways and GO biological processes over-represented among this gene’s 183 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 |
|---|---|---|---|
| Eukaryotic Translation Initiation | 9 | 22.1× | 9e-09 |
| Cap-dependent Translation Initiation | 9 | 22.1× | 9e-09 |
| SARS-CoV-1 modulates host translation machinery | 9 | 22.1× | 9e-09 |
| Eukaryotic Translation Elongation | 9 | 19.9× | 2e-08 |
| Activation of the mRNA upon binding of the cap-binding complex and eIFs, and subsequent binding to 43S | 9 | 19.4× | 2e-08 |
| Formation of the ternary complex, and subsequently, the 43S complex | 11 | 18.8× | 1e-09 |
| Influenza Infection | 13 | 18.1× | 6e-11 |
| Influenza Viral RNA Transcription and Replication | 10 | 17.1× | 1e-08 |
GO biological processes:
| GO term | Partners | Fold | FDR |
|---|---|---|---|
| maturation of SSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) | 6 | 25.3× | 2e-05 |
| NLS-bearing protein import into nucleus | 5 | 25.1× | 2e-04 |
| ribosomal small subunit biogenesis | 15 | 21.4× | 3e-13 |
| ribosomal large subunit biogenesis | 6 | 16.6× | 2e-04 |
| cytoplasmic translation | 14 | 16.2× | 8e-11 |
| negative regulation of innate immune response | 5 | 16.0× | 1e-03 |
| rRNA processing | 14 | 12.4× | 2e-09 |
| translational initiation | 5 | 11.2× | 5e-03 |
Disease & clinical
Clinical variants and AI predictions
ClinVar
140 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 111 |
| Likely benign | 6 |
| Benign | 4 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
1887 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 17:2323133:CAG:C | acceptor_loss | 1.0000 |
| 17:2323134:A:C | acceptor_loss | 1.0000 |
| 17:2324371:GTAC:G | acceptor_gain | 1.0000 |
| 17:2324372:TAC:T | acceptor_gain | 1.0000 |
| 17:2324372:TACC:T | acceptor_loss | 1.0000 |
| 17:2324374:CCTAG:C | acceptor_loss | 1.0000 |
| 17:2324375:C:CA | acceptor_loss | 1.0000 |
| 17:2324375:C:CC | acceptor_gain | 1.0000 |
| 17:2324576:CCTCT:C | acceptor_gain | 1.0000 |
| 17:2324580:T:C | acceptor_gain | 1.0000 |
| 17:2324580:T:TC | acceptor_gain | 1.0000 |
| 17:2324587:C:CT | acceptor_gain | 1.0000 |
| 17:2324594:A:C | acceptor_gain | 1.0000 |
| 17:2324712:A:AC | donor_gain | 1.0000 |
| 17:2324713:C:CC | donor_gain | 1.0000 |
| 17:2324713:CTA:C | donor_gain | 1.0000 |
| 17:2324825:CATTC:C | acceptor_gain | 1.0000 |
| 17:2324827:TTC:T | acceptor_gain | 1.0000 |
| 17:2324828:TCCTA:T | acceptor_loss | 1.0000 |
| 17:2324830:C:CC | acceptor_gain | 1.0000 |
| 17:2324830:C:CG | acceptor_loss | 1.0000 |
| 17:2324831:T:G | acceptor_loss | 1.0000 |
| 17:2325297:AACTT:A | donor_loss | 1.0000 |
| 17:2325298:ACTTA:A | donor_loss | 1.0000 |
| 17:2325301:TA:T | donor_loss | 1.0000 |
| 17:2325302:A:AT | donor_loss | 1.0000 |
| 17:2325425:CA:C | acceptor_gain | 1.0000 |
| 17:2325426:A:AC | acceptor_gain | 1.0000 |
| 17:2325432:G:C | acceptor_gain | 1.0000 |
| 17:2325432:G:GC | acceptor_gain | 1.0000 |
AlphaMissense
5327 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 17:2324365:C:T | G749D | 0.999 |
| 17:2324524:C:T | G739E | 0.999 |
| 17:2324748:C:T | G701D | 0.999 |
| 17:2331066:A:G | W514R | 0.999 |
| 17:2331066:A:T | W514R | 0.999 |
| 17:2324324:C:G | D763H | 0.998 |
| 17:2324352:G:C | C753W | 0.998 |
| 17:2324525:C:G | G739R | 0.998 |
| 17:2324525:C:T | G739R | 0.998 |
| 17:2324548:A:G | L731P | 0.998 |
| 17:2324709:C:G | R714P | 0.998 |
| 17:2324323:T:A | D763V | 0.997 |
| 17:2324323:T:G | D763A | 0.997 |
| 17:2324354:A:G | C753R | 0.997 |
| 17:2324365:C:A | G749V | 0.997 |
| 17:2324562:A:C | F726L | 0.997 |
| 17:2324562:A:T | F726L | 0.997 |
| 17:2324564:A:G | F726L | 0.997 |
| 17:2324576:C:G | D722H | 0.997 |
| 17:2324700:A:G | F717S | 0.997 |
| 17:2324749:C:G | G701R | 0.997 |
| 17:2324750:A:C | S700R | 0.997 |
| 17:2324750:A:T | S700R | 0.997 |
| 17:2324752:T:G | S700R | 0.997 |
| 17:2332178:G:T | A496D | 0.997 |
| 17:2332213:A:C | F484L | 0.997 |
| 17:2332213:A:T | F484L | 0.997 |
| 17:2332215:A:G | F484L | 0.997 |
| 17:2324305:A:G | L769P | 0.996 |
| 17:2324317:A:T | V765E | 0.996 |
dbSNP variants (sampled 300 via entrez): RS1000210601 (17:2322271 G>GT), RS1000493871 (17:2325983 A>G), RS1000566864 (17:2325696 T>A), RS1000579269 (17:2322655 C>T), RS1000724567 (17:2331763 T>C), RS1000822271 (17:2328000 C>T), RS1000840496 (17:2335114 T>C), RS1000856020 (17:2337391 C>G), RS1001062259 (17:2328342 T>C), RS1001158695 (17:2326830 C>T), RS1001377510 (17:2326977 C>T), RS1001388705 (17:2329057 C>T), RS1001529402 (17:2334739 G>A), RS1001723141 (17:2333596 G>A), RS1002005500 (17:2338237 G>A,C)
Disease associations
OMIM: gene MIM:611214 | disease phenotypes:
GenCC curated gene-disease
| Disease | Classification | Inheritance |
|---|---|---|
| idiopathic spontaneous coronary artery dissection | Limited | Autosomal dominant |
Mondo (1): idiopathic spontaneous coronary artery dissection (MONDO:0007385)
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
6 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST000442_1 | Aortic root size | 2.000000e-11 |
| GCST002539_85 | Schizophrenia | 3.000000e-10 |
| GCST004521_272 | Autism spectrum disorder or schizophrenia | 7.000000e-10 |
| GCST006803_64 | Schizophrenia | 5.000000e-10 |
| GCST010703_278 | Brain morphology (MOSTest) | 2.000000e-15 |
| GCST90000025_116 | Appendicular lean mass | 4.000000e-16 |
EFO canonical traits (2, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0004346 | neuroimaging measurement |
| EFO:0004980 | appendicular lean mass |
MeSH disease descriptors (1)
| Descriptor | Name | Tree numbers |
|---|---|---|
| C565153 | Coronary Artery Dissection, Spontaneous (supp.) |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
42 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| bisphenol A | decreases expression | 3 |
| Tretinoin | decreases expression | 3 |
| sodium arsenite | decreases expression | 2 |
| potassium chromate(VI) | affects cotreatment, increases expression | 2 |
| Nickel | increases expression | 2 |
| Valproic Acid | increases expression, affects expression | 2 |
| Cyclosporine | increases expression | 2 |
| Aflatoxin B1 | increases expression, increases methylation | 2 |
| TAK-243 | increases sumoylation | 1 |
| alpha phellandrene | decreases expression | 1 |
| triphenyl phosphate | affects expression | 1 |
| sodium arsenate | decreases expression | 1 |
| perfluorooctanoic acid | increases expression | 1 |
| epigallocatechin gallate | affects cotreatment, increases expression | 1 |
| chromium hexavalent ion | increases expression | 1 |
| 4-phenylbutyric acid | decreases expression | 1 |
| cylindrospermopsin | increases expression | 1 |
| 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide | affects cotreatment, decreases expression | 1 |
| LDN 193189 | affects cotreatment, decreases expression | 1 |
| Resveratrol | affects cotreatment, increases expression | 1 |
| Sunitinib | increases expression | 1 |
| Arsenic | affects methylation | 1 |
| Benzo(a)pyrene | increases methylation | 1 |
| Dichlorodiphenyl Dichloroethylene | increases expression | 1 |
| Dexamethasone | decreases expression | 1 |
| Dimethyl Sulfoxide | increases expression | 1 |
| Doxorubicin | increases expression | 1 |
| Enzyme Inhibitors | decreases activity, increases O-linked glycosylation | 1 |
| Estradiol | increases expression | 1 |
| Ethyl Methanesulfonate | decreases expression | 1 |
Clinical trials (associated diseases)
0 trials via MONDO — disease-level, not drug-specific.
Related Atlas pages
- Associated diseases: idiopathic spontaneous coronary artery dissection
- Disease cohort memberships (association, not causation — diseases whose associated-gene cohort lists this gene; a subset are also under Associated diseases): idiopathic spontaneous coronary artery dissection