MRPS10
gene geneOn this page
Also known as FLJ10567uS10m
Summary
MRPS10 (mitochondrial ribosomal protein S10, HGNC:14502) is a protein-coding gene on chromosome 6p21.1, encoding Small ribosomal subunit protein uS10m (P82664). It is a selective cancer dependency (DepMap: 60.1% of cell lines).
Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. This gene encodes a 28S subunit protein that belongs to the ribosomal protein S10P family. Pseudogenes corresponding to this gene are found on chromosomes 1q, 3p, and 9p.
Source: NCBI Gene 55173 — RefSeq curated summary.
At a glance
- Clinical variants (ClinVar): 34 total
- Cancer dependency (DepMap): dependent in 60.1% of screened cell lines
- MANE Select transcript:
NM_018141
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:14502 |
| Approved symbol | MRPS10 |
| Name | mitochondrial ribosomal protein S10 |
| Location | 6p21.1 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | FLJ10567, uS10m |
| Ensembl gene | ENSG00000048544 |
| Ensembl biotype | protein_coding |
| OMIM | 611976 |
| Entrez | 55173 |
Gene structure
Transcript identifiers
Ensembl transcripts: 9 — 7 protein_coding, 2 nonsense_mediated_decay
ENST00000053468, ENST00000718325, ENST00000718326, ENST00000718327, ENST00000896501, ENST00000896502, ENST00000896503, ENST00000934613, ENST00000934614
RefSeq mRNA: 1 — MANE Select: NM_018141
NM_018141
CCDS: CCDS4866
Canonical transcript exons
ENST00000053468 — 7 exons
| Exon | Start | End |
|---|---|---|
| ENSE00000619063 | 42211781 | 42211917 |
| ENSE00000751174 | 42208858 | 42208947 |
| ENSE00000751201 | 42210488 | 42210596 |
| ENSE00000751202 | 42214120 | 42214192 |
| ENSE00000751226 | 42214280 | 42214344 |
| ENSE00001138963 | 42217802 | 42217861 |
| ENSE00004034784 | 42206807 | 42208372 |
Expression profiles
Bgee: expression breadth ubiquitous, 294 present calls, max score 98.80.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 31.8266 / max 642.6341, expressed in 1818 samples.
FANTOM5 promoters (1 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 73602 | 31.8266 | 1818 |
Top tissues by expression
294 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| buccal mucosa cell | CL:0002336 | 98.80 | gold quality |
| skeletal muscle tissue of rectus abdominis | UBERON:0004511 | 96.03 | gold quality |
| body of tongue | UBERON:0011876 | 95.54 | gold quality |
| vastus lateralis | UBERON:0001379 | 95.40 | gold quality |
| biceps brachii | UBERON:0001507 | 95.04 | gold quality |
| skeletal muscle tissue of biceps brachii | UBERON:0004502 | 94.93 | gold quality |
| quadriceps femoris | UBERON:0001377 | 94.82 | gold quality |
| pharyngeal mucosa | UBERON:0000355 | 94.55 | gold quality |
| palpebral conjunctiva | UBERON:0001812 | 94.40 | gold quality |
| tongue | UBERON:0001723 | 94.36 | gold quality |
| superior surface of tongue | UBERON:0007371 | 94.30 | gold quality |
| muscle organ | UBERON:0001630 | 94.02 | gold quality |
| skeletal muscle organ | UBERON:0014892 | 94.02 | gold quality |
| skeletal muscle tissue | UBERON:0001134 | 94.00 | gold quality |
| hindlimb stylopod muscle | UBERON:0004252 | 93.99 | gold quality |
| heart right ventricle | UBERON:0002080 | 93.92 | gold quality |
| gastrocnemius | UBERON:0001388 | 93.88 | gold quality |
| muscle of leg | UBERON:0001383 | 93.79 | gold quality |
| lower esophagus mucosa | UBERON:0035834 | 93.61 | gold quality |
| oral cavity | UBERON:0000167 | 93.45 | gold quality |
| triceps brachii | UBERON:0001509 | 93.35 | gold quality |
| visceral pleura | UBERON:0002401 | 93.22 | gold quality |
| esophagus squamous epithelium | UBERON:0006920 | 93.16 | gold quality |
| epithelium of esophagus | UBERON:0001976 | 92.98 | gold quality |
| gingiva | UBERON:0001828 | 92.94 | gold quality |
| muscle tissue | UBERON:0002385 | 92.92 | gold quality |
| gingival epithelium | UBERON:0001949 | 92.85 | gold quality |
| amniotic fluid | UBERON:0000173 | 92.66 | gold quality |
| esophagus mucosa | UBERON:0002469 | 92.62 | gold quality |
| jejunum | UBERON:0002115 | 92.52 | gold quality |
Single-cell (SCXA)
Detected in 1 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | yes | 6.70 |
Regulation
Is transcription factor: no
Upstream regulators (CollecTRI, top): YY1
miRNA regulators (miRDB)
61 targeting MRPS10, 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-186-5P | 99.99 | 70.83 | 3707 |
| HSA-MIR-12136 | 99.98 | 72.81 | 5713 |
| HSA-MIR-548P | 99.98 | 72.25 | 3784 |
| HSA-MIR-4482-3P | 99.98 | 72.50 | 3147 |
| HSA-MIR-607 | 99.97 | 73.62 | 5593 |
| HSA-MIR-3148 | 99.97 | 75.06 | 6478 |
| HSA-MIR-5688 | 99.96 | 73.23 | 4504 |
| HSA-MIR-495-3P | 99.96 | 72.81 | 4197 |
| HSA-MIR-10523-5P | 99.91 | 69.22 | 2038 |
| HSA-MIR-548AR-3P | 99.85 | 71.26 | 3889 |
| HSA-MIR-4698 | 99.84 | 71.41 | 4303 |
| HSA-MIR-548AZ-3P | 99.82 | 70.56 | 3549 |
| HSA-MIR-548BC | 99.82 | 70.61 | 3524 |
| HSA-MIR-548E-3P | 99.82 | 70.59 | 3514 |
| HSA-MIR-548F-3P | 99.82 | 70.59 | 3540 |
| HSA-MIR-577 | 99.78 | 69.13 | 2479 |
| HSA-MIR-548AG | 99.77 | 69.25 | 1492 |
| HSA-MIR-4645-3P | 99.76 | 69.33 | 993 |
| HSA-MIR-548A-3P | 99.76 | 70.58 | 3524 |
| HSA-MIR-378G | 99.71 | 64.90 | 1106 |
| HSA-MIR-548AI | 99.69 | 69.24 | 1494 |
| HSA-MIR-548BA | 99.69 | 69.14 | 1514 |
| HSA-MIR-570-5P | 99.69 | 69.24 | 1494 |
| HSA-MIR-561-3P | 99.64 | 70.90 | 3647 |
| HSA-MIR-1251-3P | 99.64 | 67.21 | 1408 |
| HSA-MIR-885-5P | 99.59 | 68.59 | 879 |
| HSA-MIR-888-3P | 99.53 | 69.77 | 1057 |
| HSA-MIR-3923 | 99.52 | 69.21 | 446 |
| HSA-MIR-6081 | 99.48 | 66.07 | 1446 |
Functional genomics
DepMap (CRISPR cell-line fitness): dependent in 60.1% of screened cell lines.
Cross-species orthologs
5 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | mrps10 | ENSDARG00000045913 |
| mus_musculus | Mrps10 | ENSMUSG00000034729 |
| rattus_norvegicus | Mrps10 | ENSRNOG00000022609 |
| drosophila_melanogaster | mRpS10 | FBGN0038307 |
| caenorhabditis_elegans | WBGENE00012556 |
Protein
Protein identifiers
Small ribosomal subunit protein uS10m — P82664 (reviewed: P82664)
Alternative names: 28S ribosomal protein S10, mitochondrial
All UniProt accessions (1): P82664
UniProt curated annotations — full annotation on UniProt →
Subunit / interactions. Component of the mitochondrial small ribosomal subunit (mt-SSU). Mature mammalian 55S mitochondrial ribosomes consist of a small (28S) and a large (39S) subunit. The 28S small subunit contains a 12S ribosomal RNA (12S mt-rRNA) and 30 different proteins. The 39S large subunit contains a 16S rRNA (16S mt-rRNA), a copy of mitochondrial valine transfer RNA (mt-tRNA(Val)), which plays an integral structural role, and 52 different proteins.
Subcellular location. Mitochondrion.
Similarity. Belongs to the universal ribosomal protein uS10 family.
RefSeq proteins (1): NP_060611* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR027486 | Ribosomal_uS10_dom | Domain |
| IPR036838 | Ribosomal_uS10_dom_sf | Homologous_superfamily |
| IPR040055 | Ribosomal_uS10m | Family |
Pfam: PF00338
UniProt features (11 total): strand 6, helix 3, chain 1, sequence conflict 1
Structure
Experimental structures (PDB)
77 structures, top 30 by resolution.
| PDB | Method | Resolution (Å) |
|---|---|---|
| 7QI4 | ELECTRON MICROSCOPY | 2.21 |
| 8CSS | ELECTRON MICROSCOPY | 2.36 |
| 7P2E | ELECTRON MICROSCOPY | 2.4 |
| 8RRI | ELECTRON MICROSCOPY | 2.4 |
| 9OLF | ELECTRON MICROSCOPY | 2.46 |
| 9OJM | ELECTRON MICROSCOPY | 2.5 |
| 8CSQ | ELECTRON MICROSCOPY | 2.54 |
| 8CSR | ELECTRON MICROSCOPY | 2.54 |
| 6ZM6 | ELECTRON MICROSCOPY | 2.59 |
| 7QI5 | ELECTRON MICROSCOPY | 2.63 |
| 8CSP | ELECTRON MICROSCOPY | 2.66 |
| 7PNX | ELECTRON MICROSCOPY | 2.76 |
| 8ANY | ELECTRON MICROSCOPY | 2.85 |
| 8CST | ELECTRON MICROSCOPY | 2.85 |
| 6ZM5 | ELECTRON MICROSCOPY | 2.89 |
| 7PO0 | ELECTRON MICROSCOPY | 2.9 |
| 8K2A | ELECTRON MICROSCOPY | 2.9 |
| 9PGL | ELECTRON MICROSCOPY | 2.9 |
| 7PO1 | ELECTRON MICROSCOPY | 2.92 |
| 7PO3 | ELECTRON MICROSCOPY | 2.92 |
| 9PGF | ELECTRON MICROSCOPY | 2.93 |
| 6VMI | ELECTRON MICROSCOPY | 2.96 |
| 6RW4 | ELECTRON MICROSCOPY | 2.97 |
| 6VLZ | ELECTRON MICROSCOPY | 2.97 |
| 7QI6 | ELECTRON MICROSCOPY | 2.98 |
| 8QRN | ELECTRON MICROSCOPY | 2.98 |
| 9PSM | ELECTRON MICROSCOPY | 2.98 |
| 8OIS | ELECTRON MICROSCOPY | 3 |
| 9G5C | ELECTRON MICROSCOPY | 3 |
| 9G5D | ELECTRON MICROSCOPY | 3 |
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-P82664-F1 | 79.46 | 0.58 |
Function
Pathways and Gene Ontology
Reactome pathways
8 pathways
| ID | Pathway |
|---|---|
| R-HSA-5368286 | Mitochondrial translation initiation |
| R-HSA-5389840 | Mitochondrial translation elongation |
| R-HSA-5419276 | Mitochondrial translation termination |
| R-HSA-9837999 | Mitochondrial protein degradation |
| R-HSA-9937383 | Mitochondrial ribosome-associated quality control |
| R-HSA-392499 | Metabolism of proteins |
| R-HSA-5368287 | Mitochondrial translation |
| R-HSA-72766 | Translation |
MSigDB gene sets: 110 (showing top):
GOBP_MITOCHONDRIAL_TRANSLATION, GOBP_TRANSLATION, WCTCNATGGY_UNKNOWN, GOCC_MITOCHONDRIAL_ENVELOPE, BERENJENO_TRANSFORMED_BY_RHOA_UP, RIZKI_TUMOR_INVASIVENESS_3D_UP, GOCC_RIBOSOME, GOCC_SMALL_RIBOSOMAL_SUBUNIT, GOCC_ORGANELLAR_RIBOSOME, GOCC_MITOCHONDRIAL_MATRIX, GOCC_ORGANELLE_INNER_MEMBRANE, GOCC_RIBOSOMAL_SUBUNIT, BLALOCK_ALZHEIMERS_DISEASE_DN, GOCC_RIBONUCLEOPROTEIN_COMPLEX, GOCC_MITOCHONDRIAL_PROTEIN_CONTAINING_COMPLEX
GO Biological Process (1): mitochondrial translation (GO:0032543)
GO Molecular Function (0):
GO Cellular Component (6): mitochondrion (GO:0005739), mitochondrial inner membrane (GO:0005743), mitochondrial matrix (GO:0005759), mitochondrial small ribosomal subunit (GO:0005763), ribosome (GO:0005840), ribonucleoprotein complex (GO:1990904)
Reactome top-level categories
Rollup of top-3 pathways:
| Category | Pathways |
|---|---|
| Mitochondrial translation | 4 |
| Metabolism of proteins | 2 |
| Translation | 1 |
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| mitochondrion | 2 |
| translation | 1 |
| mitochondrial gene expression | 1 |
| cytoplasm | 1 |
| intracellular membrane-bounded organelle | 1 |
| organelle inner membrane | 1 |
| mitochondrial membrane | 1 |
| intracellular organelle lumen | 1 |
| organellar small ribosomal subunit | 1 |
| mitochondrial ribosome | 1 |
| mitochondrial protein-containing complex | 1 |
| intracellular membraneless organelle | 1 |
| protein-containing complex | 1 |
Protein interactions and networks
STRING
5094 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| MRPS10 | MRPS27 | Q92552 | 724 |
| MRPS10 | MRPL44 | Q9H9J2 | 674 |
| MRPS10 | MRPL21 | Q7Z2W9 | 647 |
| MRPS10 | DAP3 | P51398 | 625 |
| MRPS10 | MRPS9 | P82933 | 625 |
| MRPS10 | MRPL9 | Q9BYD2 | 614 |
| MRPS10 | MRPS14 | O60783 | 604 |
| MRPS10 | MRPS11 | P82912 | 563 |
| MRPS10 | MRPS6 | P82932 | 561 |
| MRPS10 | MRPL11 | Q9Y3B7 | 558 |
| MRPS10 | MRPL40 | Q9NQ50 | 550 |
| MRPS10 | MRPS5 | P82675 | 533 |
| MRPS10 | MRPS15 | P82914 | 531 |
| MRPS10 | MRPL36 | Q9P0J6 | 513 |
| MRPS10 | MRPS2 | Q9Y399 | 505 |
IntAct
166 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| CFTR | ESYT2 | psi-mi:“MI:2364”(proximity) | 0.710 |
| MRPS27 | MRPS14 | psi-mi:“MI:0914”(association) | 0.640 |
| IGF2BP1 | IGF2BP3 | psi-mi:“MI:0914”(association) | 0.640 |
| LIN28A | IGF2BP3 | psi-mi:“MI:0914”(association) | 0.640 |
| NOP53 | RRP8 | psi-mi:“MI:0914”(association) | 0.640 |
| FAM120A | SYNCRIP | psi-mi:“MI:0914”(association) | 0.640 |
| NP | KPNA6 | psi-mi:“MI:0914”(association) | 0.550 |
| MRPS6 | STAT5A | psi-mi:“MI:0914”(association) | 0.550 |
| ZNF707 | ZNF316 | psi-mi:“MI:0914”(association) | 0.530 |
| RPL18 | NOP56 | psi-mi:“MI:0914”(association) | 0.530 |
| ZBTB48 | ZBTB24 | psi-mi:“MI:0914”(association) | 0.530 |
| MRPS15 | MRPS14 | psi-mi:“MI:0914”(association) | 0.530 |
| TRMT10B | MRPS14 | psi-mi:“MI:0914”(association) | 0.530 |
| DAP3 | PNMA6A | psi-mi:“MI:0914”(association) | 0.530 |
| MRPS18B | MRPS14 | psi-mi:“MI:0914”(association) | 0.530 |
| SNRNP70 | GTPBP1 | psi-mi:“MI:0914”(association) | 0.530 |
| PPAN | PPM1G | psi-mi:“MI:0914”(association) | 0.530 |
| MRPS34 | ZZEF1 | psi-mi:“MI:0914”(association) | 0.530 |
| E4F1 | ZBTB24 | psi-mi:“MI:0914”(association) | 0.530 |
| MRPS18C | MRPS14 | psi-mi:“MI:0914”(association) | 0.530 |
| MRPS15 | PRKACG | psi-mi:“MI:0914”(association) | 0.530 |
| MRPS27 | YBX1 | psi-mi:“MI:0914”(association) | 0.530 |
| MRPS26 | MRPS10 | psi-mi:“MI:0914”(association) | 0.530 |
| MRPL18 | GTPBP10 | psi-mi:“MI:0914”(association) | 0.530 |
BioGRID (266): MRPS10 (Affinity Capture-RNA), MRPS10 (Affinity Capture-RNA), MRPS10 (Affinity Capture-RNA), MRPS10 (Affinity Capture-MS), MRPS10 (Affinity Capture-MS), MRPS10 (Affinity Capture-MS), MRPS10 (Affinity Capture-MS), MRPS10 (Affinity Capture-MS), MRPS10 (Affinity Capture-MS), MRPS10 (Affinity Capture-MS), MRPS10 (Affinity Capture-MS), MRPS10 (Co-fractionation), MRPS10 (Co-fractionation), MRPS10 (Co-fractionation), MRPS10 (Co-fractionation)
ESM2 similar proteins: A6QPQ5, A9X1A9, O95707, P0C2C1, P82664, P82670, P82675, P82915, P82919, P82933, Q08BI9, Q0P5E7, Q0VFH6, Q2KIB9, Q2KID9, Q2KIJ6, Q2TBK2, Q2TBR2, Q3MHY7, Q3SYS0, Q3T040, Q58DQ5, Q58DV5, Q5C9Z4, Q5R7B0, Q5REJ1, Q5REY4, Q5RFM3, Q641X9, Q7Z2W9, Q7Z7H8, Q8N3Z3, Q8TCC3, Q924T2, Q99N85, Q99N87, Q99N94, Q9BSH4, Q9BYD2, Q9BYD6
Diamond homologs: A0ALW9, A0L5X2, A0LII9, A0Q4I2, A1AVJ9, A1B026, A3PGL0, A4WVK9, A4YSJ1, A5CXK3, A5ELM8, A5FZW6, A5VR07, A6U858, A6X0B7, A7HWR0, A7IFY0, A7Z0N7, A8F984, A8IAS9, A9IW28, A9M5Q1, B0CH33, B0SAF5, B0SSH8, B0UHX0, B1Y7H1, B2IK61, B2S680, B2SDY6, B3PWS0, B3QBY1, B5ZYT4, B6JET2, B8DB07, B8ELG4, B8IS84, B9JVN6, B9KL90, C0RJK2
SIGNOR signaling
1 interactions.
| A | Effect | B | Mechanism |
|---|---|---|---|
| MRPS10 | “form complex” | “28S mitochondrial small ribosomal subunit” | binding |
Enriched among interaction partners
Reactome pathways and GO biological processes over-represented among this gene’s 175 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 |
|---|---|---|---|
| Mitochondrial translation | 26 | 32.8× | 2e-31 |
| Mitochondrial ribosome-associated quality control | 29 | 32.7× | 1e-34 |
| Mitochondrial translation initiation | 28 | 32.6× | 9e-34 |
| Mitochondrial translation elongation | 28 | 32.6× | 9e-34 |
| Mitochondrial translation termination | 28 | 28.2× | 7e-32 |
| Transport of Mature Transcript to Cytoplasm | 5 | 17.5× | 1e-04 |
| Translation | 30 | 17.1× | 2e-27 |
| Peptide chain elongation | 10 | 11.6× | 4e-07 |
GO biological processes:
| GO term | Partners | Fold | FDR |
|---|---|---|---|
| mitochondrial translation | 29 | 32.7× | 9e-34 |
| positive regulation of cytoplasmic translation | 5 | 32.2× | 5e-05 |
| cytoplasmic translation | 12 | 14.4× | 9e-09 |
| translation | 21 | 14.0× | 8e-16 |
| regulation of alternative mRNA splicing, via spliceosome | 7 | 11.1× | 3e-04 |
| negative regulation of translation | 7 | 8.9× | 1e-03 |
| ribosomal small subunit biogenesis | 6 | 8.9× | 4e-03 |
| RNA processing | 6 | 8.5× | 4e-03 |
Disease & clinical
Clinical variants and AI predictions
ClinVar
34 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 23 |
| Likely benign | 2 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
926 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 6:42208852:CTATA:C | donor_loss | 1.0000 |
| 6:42208853:TATAC:T | donor_loss | 1.0000 |
| 6:42208854:ATAC:A | donor_loss | 1.0000 |
| 6:42208856:A:AT | donor_loss | 1.0000 |
| 6:42208868:T:TA | donor_gain | 1.0000 |
| 6:42208869:C:A | donor_gain | 1.0000 |
| 6:42208944:CTAA:C | acceptor_gain | 1.0000 |
| 6:42208945:TAA:T | acceptor_gain | 1.0000 |
| 6:42208946:AA:A | acceptor_gain | 1.0000 |
| 6:42208948:C:CC | acceptor_gain | 1.0000 |
| 6:42210483:CTCA:C | donor_loss | 1.0000 |
| 6:42210484:TCA:T | donor_loss | 1.0000 |
| 6:42210485:CACC:C | donor_loss | 1.0000 |
| 6:42210486:A:AC | donor_gain | 1.0000 |
| 6:42210486:ACC:A | donor_loss | 1.0000 |
| 6:42210487:C:CC | donor_gain | 1.0000 |
| 6:42210487:CCT:C | donor_gain | 1.0000 |
| 6:42210592:CATGT:C | acceptor_gain | 1.0000 |
| 6:42210593:ATGT:A | acceptor_gain | 1.0000 |
| 6:42210594:TGT:T | acceptor_gain | 1.0000 |
| 6:42210594:TGTC:T | acceptor_loss | 1.0000 |
| 6:42210595:GT:G | acceptor_gain | 1.0000 |
| 6:42210595:GTC:G | acceptor_loss | 1.0000 |
| 6:42210597:C:CA | acceptor_loss | 1.0000 |
| 6:42210597:C:CC | acceptor_gain | 1.0000 |
| 6:42210603:T:C | acceptor_gain | 1.0000 |
| 6:42210603:T:TC | acceptor_gain | 1.0000 |
| 6:42210606:A:AC | acceptor_gain | 1.0000 |
| 6:42210606:A:C | acceptor_gain | 1.0000 |
| 6:42211779:A:AC | donor_gain | 1.0000 |
AlphaMissense
1301 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 6:42208895:C:G | R162P | 0.994 |
| 6:42211808:G:T | A99D | 0.987 |
| 6:42211871:A:T | V78D | 0.986 |
| 6:42211809:C:G | A99P | 0.985 |
| 6:42211834:A:C | S90R | 0.985 |
| 6:42211834:A:T | S90R | 0.985 |
| 6:42211836:T:G | S90R | 0.985 |
| 6:42208875:C:G | A169P | 0.984 |
| 6:42208923:C:G | A153P | 0.980 |
| 6:42211811:G:T | A98D | 0.980 |
| 6:42211822:A:C | F94L | 0.980 |
| 6:42211822:A:T | F94L | 0.980 |
| 6:42211824:A:G | F94L | 0.980 |
| 6:42208914:A:C | Y156D | 0.977 |
| 6:42208881:C:G | G167R | 0.974 |
| 6:42208881:C:T | G167R | 0.974 |
| 6:42211820:G:T | A95D | 0.973 |
| 6:42211860:C:G | G82R | 0.970 |
| 6:42210515:T:A | E135D | 0.968 |
| 6:42210515:T:G | E135D | 0.968 |
| 6:42211799:A:G | L102P | 0.968 |
| 6:42211859:C:T | G82D | 0.968 |
| 6:42208886:G:T | P165H | 0.966 |
| 6:42211821:C:G | A95P | 0.966 |
| 6:42210509:T:A | R137S | 0.964 |
| 6:42210509:T:G | R137S | 0.964 |
| 6:42208877:A:T | V168D | 0.963 |
| 6:42210561:A:G | L120P | 0.963 |
| 6:42208881:C:A | G167W | 0.961 |
| 6:42208905:A:G | Y159H | 0.961 |
dbSNP variants (sampled 300 via entrez): RS1000225370 (6:42212277 T>C), RS1000402020 (6:42214037 T>C), RS1000499655 (6:42209189 G>A), RS1001055629 (6:42208542 C>G), RS1001387618 (6:42206775 T>C), RS1001661268 (6:42214762 A>G), RS1001674983 (6:42212344 T>C), RS1002042249 (6:42212056 C>G,T), RS1002131193 (6:42218380 A>T), RS1002930114 (6:42216116 T>C), RS1003062831 (6:42209698 T>C), RS1003110363 (6:42209500 C>G), RS1003250447 (6:42217451 C>A,T), RS1003315493 (6:42211045 G>T), RS1003450685 (6:42211269 T>C)
Disease associations
OMIM: gene MIM:611976 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
0 associations (top):
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
24 total (human), top 24 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| bisphenol A | increases expression, increases methylation | 2 |
| Acetaminophen | increases expression, affects cotreatment | 2 |
| Tretinoin | decreases expression | 2 |
| dicrotophos | decreases expression | 1 |
| triphenyl phosphate | affects expression | 1 |
| arsenite | affects binding, increases reaction | 1 |
| sodium arsenite | affects cotreatment, increases abundance, increases expression | 1 |
| di-n-butylphosphoric acid | affects expression | 1 |
| cylindrospermopsin | increases expression | 1 |
| abrine | increases expression | 1 |
| eprenetapopt | affects expression, affects reaction | 1 |
| bisphenol S | increases expression | 1 |
| Air Pollutants | decreases expression, increases abundance | 1 |
| Arsenic | affects cotreatment, increases abundance, increases expression | 1 |
| Atrazine | decreases expression | 1 |
| Cannabidiol | increases expression | 1 |
| Lead | affects expression | 1 |
| Lipopolysaccharides | increases expression, affects cotreatment | 1 |
| Ribonucleotides | affects binding | 1 |
| Valproic Acid | affects expression | 1 |
| 7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide | decreases expression | 1 |
| Cyclosporine | increases expression | 1 |
| Antirheumatic Agents | increases expression | 1 |
| Particulate Matter | increases abundance, 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.