MRPL10
geneOn this page
Also known as RPML8MRP-L8L10MTMRP-L10MRPL8MGC17973uL10m
Summary
MRPL10 (mitochondrial ribosomal protein L10, HGNC:14055) is a protein-coding gene on chromosome 17q21.32, encoding Large ribosomal subunit protein uL10m (Q7Z7H8). It is a common-essential gene (DepMap: required in 92.9% of cancer 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 39S subunit protein. Sequence analysis identified three transcript variants that encode two different isoforms. A pseudogene corresponding to this gene is found on chromosome 5q.
Source: NCBI Gene 124995 — RefSeq curated summary.
At a glance
- GWAS associations: 3
- Clinical variants (ClinVar): 47 total
- Cancer dependency (DepMap): dependent in 92.9% of screened cell lines (common-essential)
- MANE Select transcript:
NM_145255
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:14055 |
| Approved symbol | MRPL10 |
| Name | mitochondrial ribosomal protein L10 |
| Location | 17q21.32 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | RPML8, MRP-L8, L10MT, MRP-L10, MRPL8, MGC17973, uL10m |
| Ensembl gene | ENSG00000159111 |
| Ensembl biotype | protein_coding |
| OMIM | 611825 |
| Entrez | 124995 |
Gene structure
Transcript identifiers
Ensembl transcripts: 9 — 5 protein_coding, 2 nonsense_mediated_decay, 2 retained_intron
ENST00000290208, ENST00000351111, ENST00000414011, ENST00000421763, ENST00000423147, ENST00000466016, ENST00000480901, ENST00000928398, ENST00000959995
RefSeq mRNA: 2 — MANE Select: NM_145255
NM_145255, NM_148887
CCDS: CCDS11516, CCDS11517
Canonical transcript exons
ENST00000351111 — 5 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001349129 | 47823272 | 47824458 |
| ENSE00001926566 | 47831460 | 47831541 |
| ENSE00003458817 | 47828501 | 47828670 |
| ENSE00003464328 | 47827040 | 47827204 |
| ENSE00003549461 | 47826637 | 47826781 |
Expression profiles
Bgee: expression breadth ubiquitous, 253 present calls, max score 95.54.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 64.1604 / max 286.7567, expressed in 1822 samples.
FANTOM5 promoters (2 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 166610 | 64.1080 | 1822 |
| 166609 | 0.0524 | 18 |
Top tissues by expression
260 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| apex of heart | UBERON:0002098 | 95.54 | gold quality |
| heart left ventricle | UBERON:0002084 | 94.55 | gold quality |
| hindlimb stylopod muscle | UBERON:0004252 | 94.55 | gold quality |
| cardiac ventricle | UBERON:0002082 | 94.44 | gold quality |
| left ventricle myocardium | UBERON:0006566 | 94.42 | gold quality |
| gastrocnemius | UBERON:0001388 | 94.20 | gold quality |
| muscle of leg | UBERON:0001383 | 93.86 | gold quality |
| cardiac muscle of right atrium | UBERON:0003379 | 93.78 | gold quality |
| deltoid | UBERON:0001476 | 93.64 | gold quality |
| lower esophagus muscularis layer | UBERON:0035833 | 93.63 | gold quality |
| lower esophagus | UBERON:0013473 | 93.62 | gold quality |
| skeletal muscle organ | UBERON:0014892 | 93.52 | gold quality |
| heart | UBERON:0000948 | 93.42 | gold quality |
| tibialis anterior | UBERON:0001385 | 93.37 | silver quality |
| muscle layer of sigmoid colon | UBERON:0035805 | 93.28 | gold quality |
| esophagogastric junction muscularis propria | UBERON:0035841 | 93.20 | gold quality |
| granulocyte | CL:0000094 | 93.15 | gold quality |
| popliteal artery | UBERON:0002250 | 93.15 | gold quality |
| mucosa of stomach | UBERON:0001199 | 93.14 | gold quality |
| right atrium auricular region | UBERON:0006631 | 93.14 | gold quality |
| tibial artery | UBERON:0007610 | 93.14 | gold quality |
| cardiac atrium | UBERON:0002081 | 93.11 | gold quality |
| quadriceps femoris | UBERON:0001377 | 93.04 | gold quality |
| myocardium | UBERON:0002349 | 92.82 | gold quality |
| vastus lateralis | UBERON:0001379 | 92.80 | gold quality |
| mucosa of transverse colon | UBERON:0004991 | 92.55 | gold quality |
| left ovary | UBERON:0002119 | 92.54 | gold quality |
| adult organism | UBERON:0007023 | 92.48 | gold quality |
| body of stomach | UBERON:0001161 | 92.46 | gold quality |
| body of pancreas | UBERON:0001150 | 92.42 | gold quality |
Single-cell (SCXA)
Detected in 2 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | yes | 6.09 |
| E-GEOD-106540 | no | 792.57 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
47 targeting MRPL10, 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-4476 | 100.00 | 68.18 | 2030 |
| HSA-MIR-6876-5P | 100.00 | 67.68 | 2126 |
| HSA-MIR-34A-5P | 99.99 | 71.21 | 1784 |
| HSA-MIR-449A | 99.99 | 71.05 | 1776 |
| HSA-MIR-4531 | 99.99 | 69.70 | 3181 |
| HSA-MIR-34C-5P | 99.97 | 70.45 | 1577 |
| HSA-MIR-449B-5P | 99.97 | 70.26 | 1580 |
| HSA-MIR-4668-5P | 99.79 | 70.58 | 3782 |
| HSA-MIR-4306 | 99.72 | 70.50 | 3630 |
| HSA-MIR-3202 | 99.66 | 67.70 | 2737 |
| HSA-MIR-497-3P | 99.61 | 69.71 | 1990 |
| HSA-MIR-4516 | 99.61 | 67.78 | 3390 |
| HSA-MIR-4437 | 99.52 | 65.29 | 1266 |
| HSA-MIR-3915 | 99.45 | 68.49 | 1905 |
| HSA-MIR-185-5P | 99.35 | 68.60 | 2497 |
| HSA-MIR-4644 | 99.35 | 69.12 | 2514 |
| HSA-MIR-6797-3P | 99.17 | 66.94 | 668 |
| HSA-MIR-4254 | 99.11 | 65.15 | 1315 |
| HSA-MIR-3619-5P | 99.00 | 68.87 | 2308 |
| HSA-MIR-384 | 98.71 | 67.34 | 1229 |
| HSA-MIR-214-3P | 98.71 | 68.12 | 2128 |
| HSA-MIR-761 | 98.71 | 68.07 | 2051 |
| HSA-MIR-6728-3P | 98.63 | 67.63 | 1534 |
| HSA-MIR-6076 | 98.61 | 65.69 | 637 |
| HSA-MIR-210-5P | 98.57 | 64.37 | 832 |
| HSA-MIR-6882-3P | 98.23 | 67.01 | 1119 |
| HSA-MIR-6834-3P | 98.16 | 65.77 | 551 |
| HSA-MIR-4769-3P | 97.95 | 68.17 | 1002 |
| HSA-MIR-6817-5P | 97.95 | 67.86 | 1026 |
Functional genomics
DepMap (CRISPR cell-line fitness): dependent in 92.9% of screened cell lines, common-essential.
Literature-anchored findings (GeneRIF, showing 1)
- Analyzes the RNA binding properties of orthologous bovine 39S ribosomal subunit proteins, including MRPL10. (PMID:3129699)
Cross-species orthologs
3 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | mrpl10 | ENSDARG00000045091 |
| mus_musculus | Mrpl10 | ENSMUSG00000001445 |
| rattus_norvegicus | Mrpl10 | ENSRNOG00000009567 |
Protein
Protein identifiers
Large ribosomal subunit protein uL10m — Q7Z7H8 (reviewed: Q7Z7H8)
Alternative names: 39S ribosomal protein L10, mitochondrial, 39S ribosomal protein L8, mitochondrial
All UniProt accessions (2): Q7Z7H8, F2Z2K7
UniProt curated annotations — full annotation on UniProt →
Subunit / interactions. Component of the mitochondrial large ribosomal subunit (mt-LSU). 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. uL10m contributes a single cysteine residue to a zinc-binding site with mL66.
Subcellular location. Mitochondrion.
Similarity. Belongs to the universal ribosomal protein uL10 family.
Isoforms (2)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q7Z7H8-1 | 1 | yes |
| Q7Z7H8-2 | 2 |
RefSeq proteins (2): NP_660298, NP_683685 (=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR001790 | Ribosomal_uL10_N | Domain |
| IPR043141 | Ribosomal_uL10-like_sf | Homologous_superfamily |
| IPR047865 | Ribosomal_uL10_bact_orga | Family |
Pfam: PF00466
UniProt features (23 total): strand 7, helix 7, turn 3, sequence variant 2, transit peptide 1, chain 1, region of interest 1, splice variant 1
Structure
Experimental structures (PDB)
84 structures, top 30 by resolution.
| PDB | Method | Resolution (Å) |
|---|---|---|
| 7OF0 | ELECTRON MICROSCOPY | 2.2 |
| 7QI4 | ELECTRON MICROSCOPY | 2.21 |
| 8QU5 | ELECTRON MICROSCOPY | 2.42 |
| 9OLF | ELECTRON MICROSCOPY | 2.46 |
| 7OF7 | ELECTRON MICROSCOPY | 2.5 |
| 7PO4 | ELECTRON MICROSCOPY | 2.56 |
| 6ZM6 | ELECTRON MICROSCOPY | 2.59 |
| 7O9M | ELECTRON MICROSCOPY | 2.6 |
| 7OF6 | ELECTRON MICROSCOPY | 2.6 |
| 9CN3 | ELECTRON MICROSCOPY | 2.62 |
| 7QI5 | ELECTRON MICROSCOPY | 2.63 |
| 7OF2 | ELECTRON MICROSCOPY | 2.7 |
| 7OF3 | ELECTRON MICROSCOPY | 2.7 |
| 7OF4 | ELECTRON MICROSCOPY | 2.7 |
| 8QU1 | ELECTRON MICROSCOPY | 2.74 |
| 9PR4 | ELECTRON MICROSCOPY | 2.77 |
| 9PRA | ELECTRON MICROSCOPY | 2.83 |
| 8ANY | ELECTRON MICROSCOPY | 2.85 |
| 6ZM5 | ELECTRON MICROSCOPY | 2.89 |
| 7QH7 | ELECTRON MICROSCOPY | 2.89 |
| 7ODR | ELECTRON MICROSCOPY | 2.9 |
| 7OF5 | ELECTRON MICROSCOPY | 2.9 |
| 8K2A | ELECTRON MICROSCOPY | 2.9 |
| 8OIT | ELECTRON MICROSCOPY | 2.9 |
| 9PGL | ELECTRON MICROSCOPY | 2.9 |
| 9PGF | ELECTRON MICROSCOPY | 2.93 |
| 6VMI | ELECTRON MICROSCOPY | 2.96 |
| 6VLZ | ELECTRON MICROSCOPY | 2.97 |
| 7QI6 | ELECTRON MICROSCOPY | 2.98 |
| 9PSM | ELECTRON MICROSCOPY | 2.98 |
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q7Z7H8-F1 | 83.63 | 0.50 |
Function
Pathways and Gene Ontology
Reactome pathways
7 pathways
| ID | Pathway |
|---|---|
| R-HSA-5368286 | Mitochondrial translation initiation |
| R-HSA-5389840 | Mitochondrial translation elongation |
| R-HSA-5419276 | Mitochondrial translation termination |
| 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: 85 (showing top):
GOBP_MITOCHONDRIAL_TRANSLATION, GOBP_TRANSLATION, GOMF_STRUCTURAL_CONSTITUENT_OF_RIBOSOME, GOCC_MITOCHONDRIAL_ENVELOPE, CYTAGCAAY_UNKNOWN, NAKAMURA_TUMOR_ZONE_PERIPHERAL_VS_CENTRAL_DN, GCM_NF2, GOCC_LARGE_RIBOSOMAL_SUBUNIT, GOCC_RIBOSOME, GOCC_ORGANELLAR_RIBOSOME, GOCC_MITOCHONDRIAL_MATRIX, GOCC_ORGANELLE_INNER_MEMBRANE, RFX1_01, GOCC_RIBOSOMAL_SUBUNIT, GOCC_RIBONUCLEOPROTEIN_COMPLEX
GO Biological Process (2): translation (GO:0006412), mitochondrial translation (GO:0032543)
GO Molecular Function (3): RNA binding (GO:0003723), structural constituent of ribosome (GO:0003735), protein binding (GO:0005515)
GO Cellular Component (6): nucleoplasm (GO:0005654), mitochondrion (GO:0005739), mitochondrial inner membrane (GO:0005743), mitochondrial large ribosomal subunit (GO:0005762), ribonucleoprotein complex (GO:1990904), ribosome (GO:0005840)
Reactome top-level categories
Rollup of top-3 pathways:
| Category | Pathways |
|---|---|
| Mitochondrial translation | 4 |
| Translation | 1 |
| Metabolism of proteins | 1 |
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| peptidyltransferase activity | 1 |
| translational initiation | 1 |
| translational elongation | 1 |
| translational termination | 1 |
| macromolecule biosynthetic process | 1 |
| protein metabolic process | 1 |
| protein biosynthetic process | 1 |
| mitochondrion | 1 |
| translation | 1 |
| mitochondrial gene expression | 1 |
| nucleic acid binding | 1 |
| structural molecule activity | 1 |
| ribosome | 1 |
| binding | 1 |
| nuclear lumen | 1 |
| cellular anatomical structure | 1 |
| cytoplasm | 1 |
| intracellular membrane-bounded organelle | 1 |
| organelle inner membrane | 1 |
| mitochondrial membrane | 1 |
| organellar large ribosomal subunit | 1 |
| mitochondrial ribosome | 1 |
| mitochondrial protein-containing complex | 1 |
| protein-containing complex | 1 |
| intracellular membraneless organelle | 1 |
Protein interactions and networks
STRING
1506 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| MRPL10 | MRPL11 | Q9Y3B7 | 601 |
| MRPL10 | UBXN11 | Q5T124 | 573 |
| MRPL10 | MRPL38 | Q96DV4 | 566 |
| MRPL10 | MRPS27 | Q92552 | 559 |
| MRPL10 | MRPL12 | P52815 | 554 |
| MRPL10 | ANKRD27 | Q96NW4 | 545 |
| MRPL10 | MRPS21 | P82921 | 510 |
| MRPL10 | SIRT3 | Q9NTG7 | 479 |
| MRPL10 | ACSS1 | Q9NUB1 | 476 |
| MRPL10 | MRPL45 | Q9BRJ2 | 449 |
| MRPL10 | NDUFA9 | Q16795 | 439 |
| MRPL10 | MRPL13 | Q9BYD1 | 438 |
| MRPL10 | ANKRD49 | Q8WVL7 | 417 |
| MRPL10 | MRPL21 | Q7Z2W9 | 409 |
| MRPL10 | DAP3 | P51398 | 404 |
IntAct
122 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| CFTR | ESYT2 | psi-mi:“MI:2364”(proximity) | 0.710 |
| KLHL22 | METTL15 | psi-mi:“MI:0914”(association) | 0.640 |
| MRPL10 | TCF4 | psi-mi:“MI:0915”(physical association) | 0.560 |
| MRPL10 | REL | psi-mi:“MI:0915”(physical association) | 0.560 |
| KLHL12 | MRPL10 | psi-mi:“MI:0915”(physical association) | 0.560 |
| FAM9B | MRPL10 | psi-mi:“MI:0915”(physical association) | 0.560 |
| MRPL10 | PNMA1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| TCF4 | MRPL10 | psi-mi:“MI:0915”(physical association) | 0.560 |
| REL | MRPL10 | psi-mi:“MI:0915”(physical association) | 0.560 |
| PNMA1 | MRPL10 | psi-mi:“MI:0915”(physical association) | 0.560 |
| MRPL10 | KLHL12 | psi-mi:“MI:0915”(physical association) | 0.560 |
| MRPL10 | FAM9B | psi-mi:“MI:0915”(physical association) | 0.560 |
| ACTN2 | MRPL10 | psi-mi:“MI:0915”(physical association) | 0.560 |
| MRPL50 | GTPBP10 | psi-mi:“MI:0914”(association) | 0.530 |
| MRPL10 | ZZEF1 | psi-mi:“MI:0914”(association) | 0.530 |
| MRPL42 | GATC | psi-mi:“MI:0914”(association) | 0.530 |
| MRPL28 | MRPL3 | psi-mi:“MI:0914”(association) | 0.530 |
| MRPL2 | GTPBP10 | psi-mi:“MI:0914”(association) | 0.530 |
| MRPL13 | GTPBP10 | psi-mi:“MI:0914”(association) | 0.530 |
| MRPL18 | GTPBP10 | psi-mi:“MI:0914”(association) | 0.530 |
| MRPL23 | BCKDHA | psi-mi:“MI:0914”(association) | 0.530 |
BioGRID (288): MRPL10 (Two-hybrid), MRPL10 (Two-hybrid), MRPL10 (Two-hybrid), MRPL10 (Two-hybrid), FAM9B (Two-hybrid), MRPL10 (Affinity Capture-MS), MRPL10 (Affinity Capture-MS), MRPL10 (Affinity Capture-MS), MRPL10 (Affinity Capture-MS), MRPL10 (Affinity Capture-MS), MRPL10 (Affinity Capture-MS), MRPL10 (Affinity Capture-MS), MRPL10 (Co-fractionation), MRPL15 (Co-fractionation), MRPL10 (Affinity Capture-MS)
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: A5FZX3, P0C2C4, Q3MHY7, Q3TBW2, Q5BJB7, Q7Z7H8, A9H3S7, A9W8N6, B0UHX8, B1ZGR8, B7KN43, B8IS75, Q98N68
SIGNOR signaling
1 interactions.
| A | Effect | B | Mechanism |
|---|---|---|---|
| MRPL10 | “form complex” | “39S mitochondrial large ribosomal subunit” | binding |
Enriched among interaction partners
Reactome pathways and GO biological processes over-represented among this gene’s 111 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 ribosome-associated quality control | 31 | 45.3× | 2e-42 |
| Mitochondrial translation | 27 | 44.2× | 9e-37 |
| Mitochondrial translation initiation | 29 | 43.8× | 2e-39 |
| Mitochondrial translation elongation | 29 | 43.8× | 2e-39 |
| Mitochondrial translation termination | 29 | 37.9× | 2e-37 |
| Translation | 28 | 20.7× | 5e-28 |
GO biological processes:
| GO term | Partners | Fold | FDR |
|---|---|---|---|
| mitochondrial translation | 31 | 52.3× | 2e-43 |
| translation | 19 | 19.0× | 1e-16 |
Disease & clinical
Clinical variants and AI predictions
ClinVar
47 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 33 |
| Likely benign | 3 |
| Benign | 1 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
747 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 17:47824455:CCAC:C | acceptor_gain | 1.0000 |
| 17:47824456:CAC:C | acceptor_gain | 1.0000 |
| 17:47824456:CACC:C | acceptor_gain | 1.0000 |
| 17:47824459:C:CC | acceptor_gain | 1.0000 |
| 17:47824459:CT:C | acceptor_loss | 1.0000 |
| 17:47826634:CACCT:C | donor_loss | 1.0000 |
| 17:47826636:CCTAG:C | donor_gain | 1.0000 |
| 17:47826779:GAC:G | acceptor_gain | 1.0000 |
| 17:47826779:GACC:G | acceptor_loss | 1.0000 |
| 17:47826780:ACC:A | acceptor_loss | 1.0000 |
| 17:47826781:CCTGG:C | acceptor_loss | 1.0000 |
| 17:47826782:C:CA | acceptor_loss | 1.0000 |
| 17:47826782:C:CC | acceptor_gain | 1.0000 |
| 17:47826789:C:CT | acceptor_gain | 1.0000 |
| 17:47826790:A:T | acceptor_gain | 1.0000 |
| 17:47827035:CCTAC:C | donor_loss | 1.0000 |
| 17:47827037:TA:T | donor_loss | 1.0000 |
| 17:47827038:A:AT | donor_loss | 1.0000 |
| 17:47827039:C:G | donor_loss | 1.0000 |
| 17:47827211:T:C | acceptor_gain | 1.0000 |
| 17:47827211:T:TC | acceptor_gain | 1.0000 |
| 17:47827307:G:GC | acceptor_gain | 1.0000 |
| 17:47828496:CTTA:C | donor_loss | 1.0000 |
| 17:47828497:TTACC:T | donor_loss | 1.0000 |
| 17:47828498:TA:T | donor_loss | 1.0000 |
| 17:47828499:ACCT:A | donor_gain | 1.0000 |
| 17:47828500:CCTC:C | donor_gain | 1.0000 |
| 17:47828502:T:TA | donor_gain | 1.0000 |
| 17:47828666:CCGGC:C | acceptor_gain | 1.0000 |
| 17:47828667:CGGC:C | acceptor_gain | 1.0000 |
AlphaMissense
1685 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 17:47827137:G:T | A97D | 0.989 |
| 17:47826701:A:C | S156R | 0.987 |
| 17:47826701:A:T | S156R | 0.987 |
| 17:47826703:T:G | S156R | 0.987 |
| 17:47827132:A:G | C99R | 0.980 |
| 17:47827134:A:T | V98D | 0.979 |
| 17:47827065:A:G | I121T | 0.977 |
| 17:47824430:G:C | S187R | 0.974 |
| 17:47824430:G:T | S187R | 0.974 |
| 17:47824432:T:G | S187R | 0.974 |
| 17:47824455:C:T | G179D | 0.968 |
| 17:47826705:A:T | V155D | 0.967 |
| 17:47827138:C:G | A97P | 0.966 |
| 17:47827158:A:G | F90S | 0.961 |
| 17:47827143:A:G | M95T | 0.958 |
| 17:47826678:A:C | M164R | 0.957 |
| 17:47826741:A:G | L143P | 0.955 |
| 17:47827049:G:C | F126L | 0.955 |
| 17:47827049:G:T | F126L | 0.955 |
| 17:47827051:A:G | F126L | 0.955 |
| 17:47826708:A:C | L154R | 0.954 |
| 17:47827080:A:G | L116P | 0.954 |
| 17:47828578:C:G | A49P | 0.954 |
| 17:47827143:A:C | M95R | 0.953 |
| 17:47824458:C:T | G178D | 0.951 |
| 17:47826702:C:A | S156I | 0.950 |
| 17:47827143:A:T | M95K | 0.950 |
| 17:47826708:A:T | L154Q | 0.947 |
| 17:47827140:A:T | I96K | 0.946 |
| 17:47826678:A:T | M164K | 0.944 |
dbSNP variants (sampled 300 via entrez): RS1000162850 (17:47832104 G>A), RS1000915323 (17:47823033 C>T), RS1001292335 (17:47828931 A>G), RS1003140256 (17:47832569 G>A), RS1003257863 (17:47831953 T>C), RS1003412882 (17:47832045 G>A,C), RS1004285207 (17:47833209 A>G), RS1004720991 (17:47832972 A>C), RS1004977530 (17:47829782 A>G,T), RS1005095181 (17:47823344 G>A), RS1005146384 (17:47827630 C>T), RS1005319751 (17:47831343 G>A), RS1005489877 (17:47833362 C>T), RS1005699927 (17:47831653 C>A,G,T), RS1006393651 (17:47828332 T>C)
Disease associations
OMIM: gene MIM:611825 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
3 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST001915_38 | Alzheimer’s disease (cognitive decline) | 8.000000e-08 |
| GCST005951_17 | Body mass index | 3.000000e-09 |
| GCST008916_117 | Asthma | 1.000000e-09 |
EFO canonical traits (1, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0004340 | body mass index |
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 |
|---|---|---|
| Acetaminophen | increases expression, affects cotreatment | 2 |
| aristolochic acid I | increases expression | 1 |
| bisphenol A | increases expression | 1 |
| mono-(2-ethylhexyl)phthalate | decreases methylation, increases abundance | 1 |
| ochratoxin A | decreases expression | 1 |
| beta-methylcholine | affects expression | 1 |
| perfluorooctane sulfonic acid | increases expression | 1 |
| abrine | increases expression | 1 |
| bisphenol S | increases expression | 1 |
| jinfukang | increases expression | 1 |
| Sunitinib | increases expression | 1 |
| Amiodarone | increases expression | 1 |
| Copper | affects binding, decreases expression | 1 |
| Diethylhexyl Phthalate | decreases methylation, increases abundance | 1 |
| Disulfiram | affects binding, decreases expression | 1 |
| Enzyme Inhibitors | decreases activity, increases O-linked glycosylation | 1 |
| Lipopolysaccharides | affects cotreatment, increases expression | 1 |
| Methyl Methanesulfonate | increases expression | 1 |
| Ribonucleotides | affects binding | 1 |
| Thimerosal | decreases expression | 1 |
| Tobacco Smoke Pollution | increases expression | 1 |
| Valproic Acid | affects expression | 1 |
| 1-Methyl-4-phenylpyridinium | decreases expression | 1 |
| Cadmium Chloride | decreases expression | 1 |
Clinical trials (associated diseases)
0 trials via MONDO — disease-level, not drug-specific.
Related Atlas pages
- Disease cohort memberships (association, not causation — diseases whose associated-gene cohort lists this gene; a subset are also under Associated diseases): Alzheimer disease