MRPL47
gene geneOn this page
Also known as CGI-204NCM1uL29m
Summary
MRPL47 (mitochondrial ribosomal protein L47, HGNC:16652) is a protein-coding gene on chromosome 3q26.33, encoding Large ribosomal subunit protein uL29m (Q9HD33). It is a selective cancer dependency (DepMap: 22.9% 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 39S subunit protein. This gene is immediately adjacent to the gene for BAF complex 53 kDa subunit protein a (BAF53a), in a tail-to-tail orientation. Two transcript variants encoding different protein isoforms have been identified.
Source: NCBI Gene 57129 — RefSeq curated summary.
At a glance
- Clinical variants (ClinVar): 48 total
- Cancer dependency (DepMap): dependent in 22.9% of screened cell lines
- MANE Select transcript:
NM_020409
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:16652 |
| Approved symbol | MRPL47 |
| Name | mitochondrial ribosomal protein L47 |
| Location | 3q26.33 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | CGI-204, NCM1, uL29m |
| Ensembl gene | ENSG00000136522 |
| Ensembl biotype | protein_coding |
| OMIM | 611852 |
| Entrez | 57129 |
Gene structure
Transcript identifiers
Ensembl transcripts: 5 — 5 protein_coding
ENST00000259038, ENST00000392659, ENST00000476781, ENST00000937961, ENST00000937962
RefSeq mRNA: 2 — MANE Select: NM_020409
NM_020409, NM_177988
CCDS: CCDS3232, CCDS3233
Canonical transcript exons
ENST00000476781 — 7 exons
| Exon | Start | End |
|---|---|---|
| ENSE00000924284 | 179592644 | 179592739 |
| ENSE00000924285 | 179593765 | 179593895 |
| ENSE00001870688 | 179604527 | 179604638 |
| ENSE00001921076 | 179588285 | 179588995 |
| ENSE00002285161 | 179602652 | 179602797 |
| ENSE00003498247 | 179601730 | 179601790 |
| ENSE00003510817 | 179598675 | 179598771 |
Expression profiles
Bgee: expression breadth ubiquitous, 260 present calls, max score 98.48.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 36.5464 / max 664.7939, expressed in 1810 samples.
FANTOM5 promoters (2 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 45728 | 32.3956 | 1807 |
| 45729 | 4.1508 | 1578 |
Top tissues by expression
260 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| left ventricle myocardium | UBERON:0006566 | 98.48 | gold quality |
| tibialis anterior | UBERON:0001385 | 98.00 | gold quality |
| myocardium | UBERON:0002349 | 97.78 | gold quality |
| heart right ventricle | UBERON:0002080 | 97.34 | gold quality |
| cardiac muscle of right atrium | UBERON:0003379 | 96.98 | gold quality |
| ileal mucosa | UBERON:0000331 | 96.58 | gold quality |
| deltoid | UBERON:0001476 | 96.56 | gold quality |
| upper arm skin | UBERON:0004263 | 96.31 | gold quality |
| kidney epithelium | UBERON:0004819 | 96.03 | gold quality |
| nasal cavity epithelium | UBERON:0005384 | 95.78 | gold quality |
| quadriceps femoris | UBERON:0001377 | 95.74 | gold quality |
| gingival epithelium | UBERON:0001949 | 95.48 | gold quality |
| vastus lateralis | UBERON:0001379 | 95.47 | gold quality |
| mucosa of sigmoid colon | UBERON:0004993 | 95.22 | gold quality |
| vena cava | UBERON:0004087 | 95.16 | gold quality |
| biceps brachii | UBERON:0001507 | 95.09 | gold quality |
| colonic mucosa | UBERON:0000317 | 95.02 | gold quality |
| gingiva | UBERON:0001828 | 95.02 | gold quality |
| body of tongue | UBERON:0011876 | 94.96 | gold quality |
| adrenal tissue | UBERON:0018303 | 94.89 | gold quality |
| skeletal muscle tissue of biceps brachii | UBERON:0004502 | 94.85 | gold quality |
| islet of Langerhans | UBERON:0000006 | 94.83 | gold quality |
| sperm | CL:0000019 | 94.80 | gold quality |
| adult organism | UBERON:0007023 | 94.80 | gold quality |
| epithelial cell of pancreas | CL:0000083 | 94.66 | gold quality |
| oral cavity | UBERON:0000167 | 94.36 | gold quality |
| skeletal muscle tissue | UBERON:0001134 | 94.36 | gold quality |
| muscle tissue | UBERON:0002385 | 94.23 | gold quality |
| pharyngeal mucosa | UBERON:0000355 | 94.19 | gold quality |
| left testis | UBERON:0004533 | 94.06 | gold quality |
Single-cell (SCXA)
Detected in 1 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | yes | 7.94 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
22 targeting MRPL47, 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-340-5P | 100.00 | 72.50 | 4437 |
| HSA-MIR-3613-3P | 100.00 | 76.36 | 7965 |
| HSA-MIR-196A-1-3P | 99.99 | 72.15 | 2772 |
| HSA-MIR-4699-3P | 99.71 | 70.15 | 3142 |
| HSA-MIR-497-3P | 99.61 | 69.71 | 1990 |
| HSA-MIR-486-5P | 99.51 | 70.39 | 707 |
| HSA-MIR-377-3P | 99.37 | 70.18 | 1905 |
| HSA-MIR-6507-3P | 99.35 | 67.32 | 1059 |
| HSA-MIR-12113 | 99.32 | 67.54 | 1072 |
| HSA-MIR-877-3P | 99.09 | 68.10 | 1637 |
| HSA-MIR-4796-3P | 99.08 | 68.38 | 1681 |
| HSA-MIR-224-3P | 98.91 | 68.42 | 1815 |
| HSA-MIR-522-3P | 98.91 | 68.56 | 1817 |
| HSA-MIR-4539 | 98.78 | 67.18 | 888 |
| HSA-MIR-513B-3P | 98.76 | 68.12 | 1577 |
| HSA-MIR-216B-3P | 98.55 | 67.19 | 1223 |
| HSA-MIR-3144-3P | 98.15 | 67.34 | 677 |
| HSA-MIR-4257 | 97.86 | 68.05 | 1190 |
| HSA-MIR-3665 | 97.73 | 65.08 | 975 |
| HSA-MIR-596 | 97.48 | 63.13 | 469 |
| HSA-MIR-875-5P | 96.74 | 66.48 | 579 |
| HSA-MIR-103B | 95.51 | 66.85 | 441 |
Functional genomics
DepMap (CRISPR cell-line fitness): dependent in 22.9% of screened cell lines.
Cross-species orthologs
5 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | mrpl47 | ENSDARG00000075743 |
| mus_musculus | Mrpl47 | ENSMUSG00000037531 |
| rattus_norvegicus | Mrpl47 | ENSRNOG00000011639 |
| drosophila_melanogaster | mRpL47 | FBGN0014023 |
| caenorhabditis_elegans | mrpl-47 | WBGENE00015092 |
Protein
Protein identifiers
Large ribosomal subunit protein uL29m — Q9HD33 (reviewed: Q9HD33)
Alternative names: 39S ribosomal protein L47, mitochondrial, Nasopharyngeal carcinoma metastasis-related protein 1
All UniProt accessions (1): Q9HD33
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.
Subcellular location. Mitochondrion.
Similarity. Belongs to the universal ribosomal protein uL29 family.
Isoforms (3)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q9HD33-1 | 1 | yes |
| Q9HD33-2 | 2 | |
| Q9HD33-3 | 3 |
RefSeq proteins (2): NP_065142, NP_817125 (=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR010729 | Ribosomal_uL29_mit | Family |
| IPR038340 | MRP-L47_sf | Homologous_superfamily |
Pfam: PF06984
UniProt features (22 total): helix 8, strand 5, splice variant 2, sequence variant 2, transit peptide 1, chain 1, turn 1, modified residue 1, sequence conflict 1
Structure
Experimental structures (PDB)
86 structures, top 30 by resolution.
| PDB | Method | Resolution (Å) |
|---|---|---|
| 7OF0 | ELECTRON MICROSCOPY | 2.2 |
| 7QI4 | ELECTRON MICROSCOPY | 2.21 |
| 8RRI | ELECTRON MICROSCOPY | 2.4 |
| 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 |
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q9HD33-F1 | 84.04 | 0.72 |
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 (1): 144
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: 116 (showing top):
RODRIGUES_THYROID_CARCINOMA_ANAPLASTIC_UP, RODRIGUES_THYROID_CARCINOMA_POORLY_DIFFERENTIATED_UP, MODULE_255, GOBP_MITOCHONDRIAL_TRANSLATION, MODULE_317, TGACCTY_ERR1_Q2, chr3q26, GOBP_TRANSLATION, WEI_MYCN_TARGETS_WITH_E_BOX, MILI_PSEUDOPODIA_HAPTOTAXIS_UP, GOMF_STRUCTURAL_CONSTITUENT_OF_RIBOSOME, GOCC_MITOCHONDRIAL_ENVELOPE, AACTTT_UNKNOWN, DING_LUNG_CANCER_EXPRESSION_BY_COPY_NUMBER, FOXJ2_02
GO Biological Process (2): mitochondrial translation (GO:0032543), translation (GO:0006412)
GO Molecular Function (1): structural constituent of ribosome (GO:0003735)
GO Cellular Component (6): mitochondrion (GO:0005739), mitochondrial inner membrane (GO:0005743), mitochondrial large ribosomal subunit (GO:0005762), mitochondrial ribosome (GO:0005761), ribosome (GO:0005840), ribonucleoprotein complex (GO:1990904)
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 |
|---|---|
| mitochondrion | 1 |
| translation | 1 |
| mitochondrial gene expression | 1 |
| peptidyltransferase activity | 1 |
| translational initiation | 1 |
| translational elongation | 1 |
| translational termination | 1 |
| macromolecule biosynthetic process | 1 |
| protein metabolic process | 1 |
| protein biosynthetic process | 1 |
| structural molecule activity | 1 |
| ribosome | 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 |
| organellar ribosome | 1 |
| mitochondrial matrix | 1 |
| intracellular membraneless organelle | 1 |
| protein-containing complex | 1 |
Protein interactions and networks
STRING
2684 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| MRPL47 | MRPL9 | Q9BYD2 | 661 |
| MRPL47 | MRPS33 | Q9Y291 | 644 |
| MRPL47 | CHCHD1 | Q96BP2 | 625 |
| MRPL47 | MRPL4 | Q9BYD3 | 623 |
| MRPL47 | MRPL20 | Q9BYC9 | 619 |
| MRPL47 | MRPL23 | Q16540 | 606 |
| MRPL47 | MRPL12 | P52815 | 587 |
| MRPL47 | MRPL33 | O75394 | 529 |
| MRPL47 | MRPS18B | Q9Y676 | 512 |
| MRPL47 | MRPL42 | Q9Y6G3 | 494 |
| MRPL47 | MRPL53 | Q96EL3 | 491 |
| MRPL47 | MRPS5 | P82675 | 491 |
| MRPL47 | MRPL36 | Q9P0J6 | 488 |
| MRPL47 | MRPL54 | Q6P161 | 486 |
| MRPL47 | MRPL50 | Q8N5N7 | 483 |
IntAct
131 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| MRPL37 | HSPD1 | psi-mi:“MI:0914”(association) | 0.710 |
| MRPS30 | GTPBP10 | psi-mi:“MI:0914”(association) | 0.640 |
| LIN28A | IGF2BP3 | psi-mi:“MI:0914”(association) | 0.640 |
| NP | KPNA6 | psi-mi:“MI:0914”(association) | 0.550 |
| HSPD1 | MRPL47 | psi-mi:“MI:0915”(physical association) | 0.540 |
| MRPL50 | GTPBP10 | psi-mi:“MI:0914”(association) | 0.530 |
| MRPL2 | GTPBP10 | psi-mi:“MI:0914”(association) | 0.530 |
| ZNF324B | ZNF316 | psi-mi:“MI:0914”(association) | 0.530 |
| PDGFB | DKC1 | 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 |
| ABT1 | ZNF316 | psi-mi:“MI:0914”(association) | 0.530 |
| MRPL23 | BCKDHA | psi-mi:“MI:0914”(association) | 0.530 |
| MRPL27 | MRPL33 | psi-mi:“MI:0914”(association) | 0.530 |
| NDUFAB1 | MIEF1 | psi-mi:“MI:0915”(physical association) | 0.490 |
| MRPL47 | PDIA3 | psi-mi:“MI:0915”(physical association) | 0.400 |
| Ybx1 | MRPS18B | psi-mi:“MI:0915”(physical association) | 0.400 |
| NP | KPNA6 | psi-mi:“MI:0914”(association) | 0.350 |
| NP | TRIM66 | psi-mi:“MI:0914”(association) | 0.350 |
| psi-mi:“MI:0914”(association) | 0.350 | ||
| ESR1 | ESYT2 | psi-mi:“MI:0914”(association) | 0.350 |
| LRRK2 | psi-mi:“MI:0914”(association) | 0.350 | |
| ATAD3B | GTPBP10 | psi-mi:“MI:0914”(association) | 0.350 |
BioGRID (373): MRPL47 (Affinity Capture-MS), MRPL47 (Affinity Capture-MS), MRPL47 (Affinity Capture-MS), MRPL47 (Affinity Capture-MS), MRPL47 (Affinity Capture-MS), MRPL47 (Affinity Capture-MS), MRPL47 (Affinity Capture-MS), MRPL47 (Affinity Capture-MS), MRPL47 (Affinity Capture-MS), MRPL47 (Affinity Capture-MS), MRPL47 (Affinity Capture-MS), MRPL47 (Affinity Capture-MS), MRPL12 (Affinity Capture-MS), MRPL45 (Affinity Capture-MS), MRPL46 (Affinity Capture-MS)
ESM2 similar proteins: A1C6F8, A1DH31, A1Z897, A2QCC7, A3KP74, A4RHR8, A6RDX3, A6SLT9, A7EWR0, B0XK69, B3MI37, B3N6D9, B3N8S9, B4GDB3, B4GG58, B4HMQ1, B4HRL4, B4KN44, B4KPG8, B4LKE5, B4MRE7, B4N665, B4NXN5, B4P2P8, B4QFP7, B4QID8, B5DZ31, B5E0U2, P0CR32, P0CR33, P36527, P87232, Q08DT6, Q0CXX1, Q0U6J9, Q178L7, Q1DNY5, Q1K5G1, Q1K6U7, Q2H080
Diamond homologs: A1C6F8, A1DH31, A2QCC7, A3LYY9, A4RHR8, A5DH98, A5E713, A6RDX3, A6SLT9, A7A1V9, A7EWR0, A7TNQ2, P36517, P87232, Q08DT6, Q0CXX1, Q0U6J9, Q1DNY5, Q2H080, Q4X156, Q59RP7, Q5B0N3, Q6BQK3, Q6CF20, Q6CWC4, Q6FK61, Q756Y8, Q7S910, Q8K2Y7, Q9HD33
SIGNOR signaling
1 interactions.
| A | Effect | B | Mechanism |
|---|---|---|---|
| MRPL47 | “form complex” | “39S mitochondrial large ribosomal subunit” | binding |
Enriched among interaction partners
Reactome pathways and GO biological processes over-represented among this gene’s 130 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 | 33 | 40.5× | 2e-43 |
| Mitochondrial translation | 29 | 39.9× | 3e-38 |
| Mitochondrial translation initiation | 31 | 39.3× | 1e-40 |
| Mitochondrial translation elongation | 31 | 39.3× | 1e-40 |
| Mitochondrial translation termination | 31 | 34.0× | 2e-38 |
| Translation | 32 | 19.9× | 1e-31 |
| Peptide chain elongation | 9 | 11.4× | 4e-06 |
| Viral mRNA Translation | 9 | 11.4× | 4e-06 |
GO biological processes:
| GO term | Partners | Fold | FDR |
|---|---|---|---|
| mitochondrial translation | 31 | 46.4× | 1e-41 |
| translation | 26 | 23.0× | 6e-26 |
| cytoplasmic translation | 10 | 16.0× | 2e-07 |
| negative regulation of translation | 7 | 11.8× | 4e-04 |
| ribosomal small subunit biogenesis | 6 | 11.8× | 1e-03 |
| regulation of alternative mRNA splicing, via spliceosome | 5 | 10.5× | 9e-03 |
Disease & clinical
Clinical variants and AI predictions
ClinVar
48 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 39 |
| Likely benign | 1 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
1351 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 3:179583348:CCTA:C | acceptor_loss | 1.0000 |
| 3:179583349:CTAG:C | acceptor_loss | 1.0000 |
| 3:179583350:TAG:T | acceptor_loss | 1.0000 |
| 3:179583351:A:AG | acceptor_gain | 1.0000 |
| 3:179583351:AG:A | acceptor_gain | 1.0000 |
| 3:179583351:AGGGT:A | acceptor_loss | 1.0000 |
| 3:179583352:G:GG | acceptor_gain | 1.0000 |
| 3:179583352:GG:G | acceptor_gain | 1.0000 |
| 3:179583352:GGGT:G | acceptor_gain | 1.0000 |
| 3:179583444:CTCCA:C | donor_gain | 1.0000 |
| 3:179583445:TCCA:T | donor_gain | 1.0000 |
| 3:179583446:CCA:C | donor_gain | 1.0000 |
| 3:179583447:CA:C | donor_gain | 1.0000 |
| 3:179583448:AG:A | donor_loss | 1.0000 |
| 3:179583449:G:GG | donor_gain | 1.0000 |
| 3:179583450:TA:T | donor_loss | 1.0000 |
| 3:179583451:AA:A | donor_loss | 1.0000 |
| 3:179586448:G:GT | donor_gain | 1.0000 |
| 3:179586544:A:AG | acceptor_gain | 1.0000 |
| 3:179586545:G:GG | acceptor_gain | 1.0000 |
| 3:179586545:GA:G | acceptor_gain | 1.0000 |
| 3:179586545:GAGT:G | acceptor_gain | 1.0000 |
| 3:179587926:ACAG:A | acceptor_gain | 1.0000 |
| 3:179587928:AG:A | acceptor_gain | 1.0000 |
| 3:179587929:GG:G | acceptor_gain | 1.0000 |
| 3:179588996:C:CC | acceptor_gain | 1.0000 |
| 3:179593761:ATAC:A | donor_loss | 1.0000 |
| 3:179593762:TACC:T | donor_loss | 1.0000 |
| 3:179593763:A:AC | donor_gain | 1.0000 |
| 3:179593763:A:AG | donor_loss | 1.0000 |
AlphaMissense
1624 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 3:179601782:A:G | W85R | 0.995 |
| 3:179601782:A:T | W85R | 0.995 |
| 3:179593851:T:A | R149S | 0.993 |
| 3:179593851:T:G | R149S | 0.993 |
| 3:179601756:T:A | K93N | 0.993 |
| 3:179601756:T:G | K93N | 0.993 |
| 3:179598756:T:A | K107N | 0.992 |
| 3:179598756:T:G | K107N | 0.992 |
| 3:179601780:C:A | W85C | 0.992 |
| 3:179601780:C:G | W85C | 0.992 |
| 3:179593844:C:G | A152P | 0.991 |
| 3:179598693:A:C | S128R | 0.991 |
| 3:179598693:A:T | S128R | 0.991 |
| 3:179598695:T:G | S128R | 0.991 |
| 3:179598722:C:G | A119P | 0.990 |
| 3:179598760:A:G | L106P | 0.990 |
| 3:179601766:A:G | L90P | 0.990 |
| 3:179593886:A:G | S138P | 0.988 |
| 3:179598747:G:C | N110K | 0.988 |
| 3:179598747:G:T | N110K | 0.988 |
| 3:179601731:A:G | W102R | 0.988 |
| 3:179601731:A:T | W102R | 0.988 |
| 3:179593885:G:A | S138F | 0.986 |
| 3:179598733:A:G | L115P | 0.986 |
| 3:179598742:A:G | L112P | 0.986 |
| 3:179601762:C:A | R91S | 0.986 |
| 3:179601762:C:G | R91S | 0.986 |
| 3:179602695:A:C | F67L | 0.986 |
| 3:179602695:A:T | F67L | 0.986 |
| 3:179602697:A:G | F67L | 0.986 |
dbSNP variants (sampled 300 via entrez): RS1000484349 (3:179596553 C>T), RS1000577197 (3:179599666 G>T), RS1000631110 (3:179592423 T>C), RS1000642297 (3:179605703 A>G), RS1000732963 (3:179605335 AAGACAGGTAATATGT>A), RS1000869720 (3:179591543 T>C), RS1000902589 (3:179587815 A>G), RS1001077561 (3:179598098 C>T), RS1001210667 (3:179605477 GT>G), RS1001226889 (3:179604176 A>T), RS1001290658 (3:179603727 C>A,T), RS1001530382 (3:179597733 G>A,C), RS1001634194 (3:179593312 C>G), RS1001861685 (3:179606162 C>T), RS1001876677 (3:179592941 G>A)
Disease associations
OMIM: gene MIM:611852 | 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)
PharmGKB variants
1 variants.
| Variant | Genes | Level | Score | #Clin annots | Drugs |
|---|---|---|---|---|---|
| rs10513762 | MRPL47 | 0.00 | 0 |
CTD chemical–gene interactions
30 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| bisphenol S | affects expression, increases expression | 2 |
| Tobacco Smoke Pollution | increases expression | 2 |
| dicrotophos | decreases expression | 1 |
| bisphenol A | decreases expression | 1 |
| arsenite | affects binding, increases reaction | 1 |
| mono-(2-ethylhexyl)phthalate | decreases expression | 1 |
| sodium arsenite | increases abundance, increases expression | 1 |
| gossypol acetic acid | decreases expression | 1 |
| cylindrospermopsin | increases expression | 1 |
| CGP 52608 | affects binding, increases reaction | 1 |
| corosolic acid | decreases expression | 1 |
| ICG 001 | decreases expression | 1 |
| abrine | increases expression | 1 |
| Resveratrol | affects cotreatment, decreases expression, increases expression | 1 |
| Acetaminophen | affects cotreatment, decreases expression | 1 |
| Arsenic | increases abundance, increases expression | 1 |
| Diuron | decreases expression | 1 |
| Ivermectin | decreases expression | 1 |
| Lead | affects expression | 1 |
| Lipopolysaccharides | affects cotreatment, decreases expression | 1 |
| Oligomycins | affects response to substance, increases expression | 1 |
| Plant Extracts | affects cotreatment, decreases expression, increases expression | 1 |
| Quercetin | decreases expression | 1 |
| Ribonucleotides | affects binding | 1 |
| Rotenone | decreases expression | 1 |
| Urethane | decreases expression | 1 |
| Lithium Chloride | decreases expression | 1 |
| Lactic Acid | decreases expression | 1 |
| Acrylamide | increases expression | 1 |
| Particulate Matter | 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.