MRPL57
gene geneOn this page
Also known as mL63
Summary
MRPL57 (mitochondrial ribosomal protein L57, HGNC:14514) is a protein-coding gene on chromosome 13q12.11, encoding Large ribosomal subunit protein mL63 (Q9BQC6). It is a selective cancer dependency (DepMap: 82.4% 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 protein which belongs to an undetermined ribosomal subunit and which seems to be specific to animal mitoribosomes. Pseudogenes corresponding to this gene are found on chromosomes 1p, 1q, 3p, 5q, 8q, 14q, and Y.
Source: NCBI Gene 78988 — RefSeq curated summary.
At a glance
- GWAS associations: 2
- Clinical variants (ClinVar): 12 total
- Cancer dependency (DepMap): dependent in 82.4% of screened cell lines
- MANE Select transcript:
NM_024026
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:14514 |
| Approved symbol | MRPL57 |
| Name | mitochondrial ribosomal protein L57 |
| Location | 13q12.11 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | mL63 |
| Ensembl gene | ENSG00000173141 |
| Ensembl biotype | protein_coding |
| OMIM | 611997 |
| Entrez | 78988 |
Gene structure
Transcript identifiers
Ensembl transcripts: 6 — 6 protein_coding
ENST00000309594, ENST00000861772, ENST00000861773, ENST00000861774, ENST00000912375, ENST00000912376
RefSeq mRNA: 1 — MANE Select: NM_024026
NM_024026
CCDS: CCDS9296
Canonical transcript exons
ENST00000309594 — 2 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001200768 | 21176912 | 21179084 |
| ENSE00001295301 | 21176658 | 21176717 |
Expression profiles
Bgee: expression breadth ubiquitous, 289 present calls, max score 99.09.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 114.3029 / max 606.2834, expressed in 1826 samples.
FANTOM5 promoters (4 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 134335 | 110.8881 | 1826 |
| 134334 | 3.0077 | 1499 |
| 134333 | 0.4047 | 214 |
| 134332 | 0.0024 | 1 |
Top tissues by expression
289 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| endothelial cell | CL:0000115 | 99.09 | gold quality |
| gluteal muscle | UBERON:0002000 | 98.56 | gold quality |
| cerebellar vermis | UBERON:0004720 | 98.37 | gold quality |
| nephron tubule | UBERON:0001231 | 98.27 | gold quality |
| parotid gland | UBERON:0001831 | 98.21 | gold quality |
| cervix squamous epithelium | UBERON:0006922 | 98.21 | gold quality |
| thymus | UBERON:0002370 | 98.10 | gold quality |
| renal medulla | UBERON:0000362 | 98.08 | gold quality |
| triceps brachii | UBERON:0001509 | 98.01 | gold quality |
| sperm | CL:0000019 | 97.97 | gold quality |
| heart right ventricle | UBERON:0002080 | 97.91 | gold quality |
| male germ cell | CL:0000015 | 97.88 | gold quality |
| skeletal muscle tissue of biceps brachii | UBERON:0004502 | 97.77 | gold quality |
| pigmented layer of retina | UBERON:0001782 | 97.75 | gold quality |
| biceps brachii | UBERON:0001507 | 97.58 | gold quality |
| corpus epididymis | UBERON:0004359 | 97.55 | gold quality |
| epithelium of bronchus | UBERON:0002031 | 97.53 | gold quality |
| bronchial epithelial cell | CL:0002328 | 97.51 | gold quality |
| bronchus | UBERON:0002185 | 97.51 | gold quality |
| body of tongue | UBERON:0011876 | 97.40 | gold quality |
| ventral tegmental area | UBERON:0002691 | 97.37 | gold quality |
| type B pancreatic cell | CL:0000169 | 97.35 | gold quality |
| caput epididymis | UBERON:0004358 | 97.34 | gold quality |
| renal glomerulus | UBERON:0000074 | 97.27 | gold quality |
| cardia of stomach | UBERON:0001162 | 97.27 | gold quality |
| nipple | UBERON:0002030 | 97.26 | gold quality |
| inferior vagus X ganglion | UBERON:0005363 | 97.21 | gold quality |
| metanephric glomerulus | UBERON:0004736 | 97.13 | gold quality |
| diaphragm | UBERON:0001103 | 97.07 | gold quality |
| pylorus | UBERON:0001166 | 96.99 | gold quality |
Single-cell (SCXA)
Detected in 5 experiment(s), a significant marker in 3.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-HCAD-4 | yes | 64.13 |
| E-ANND-3 | yes | 16.13 |
| E-MTAB-9067 | yes | 10.48 |
| E-GEOD-100618 | no | 1249.13 |
| E-MTAB-8911 | no | 179.09 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
59 targeting MRPL57, 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-656-3P | 100.00 | 72.15 | 2788 |
| HSA-MIR-4795-3P | 100.00 | 74.62 | 4024 |
| HSA-MIR-4425 | 100.00 | 67.59 | 1049 |
| HSA-MIR-4668-3P | 100.00 | 68.74 | 2635 |
| HSA-MIR-3613-3P | 100.00 | 76.36 | 7965 |
| HSA-MIR-126-5P | 100.00 | 72.71 | 3180 |
| HSA-MIR-3924 | 100.00 | 72.09 | 2394 |
| HSA-MIR-150-5P | 99.99 | 66.69 | 1976 |
| HSA-MIR-8068 | 99.98 | 73.85 | 2376 |
| HSA-MIR-6778-3P | 99.96 | 67.29 | 2693 |
| HSA-MIR-1250-3P | 99.96 | 70.04 | 4038 |
| HSA-MIR-590-3P | 99.96 | 74.34 | 6478 |
| HSA-MIR-9983-3P | 99.94 | 71.48 | 3631 |
| HSA-MIR-10527-5P | 99.91 | 72.28 | 3754 |
| HSA-MIR-1305 | 99.91 | 71.43 | 3443 |
| HSA-MIR-129-5P | 99.88 | 70.26 | 3273 |
| HSA-MIR-30A-3P | 99.87 | 69.74 | 2928 |
| HSA-MIR-30D-3P | 99.87 | 69.92 | 2917 |
| HSA-MIR-30E-3P | 99.87 | 69.68 | 2942 |
| HSA-MIR-4307 | 99.82 | 70.45 | 3374 |
| HSA-MIR-6752-3P | 99.72 | 66.71 | 1587 |
| HSA-MIR-4802-3P | 99.72 | 70.13 | 1273 |
| HSA-MIR-33A-3P | 99.70 | 70.27 | 3362 |
| HSA-MIR-378A-5P | 99.65 | 66.33 | 1311 |
| HSA-MIR-6832-5P | 99.58 | 64.82 | 1132 |
| HSA-MIR-6751-5P | 99.56 | 64.99 | 1145 |
| HSA-MIR-186-3P | 99.51 | 66.24 | 1685 |
| HSA-MIR-409-3P | 99.50 | 66.33 | 1192 |
| HSA-MIR-4735-5P | 99.43 | 68.49 | 1780 |
| HSA-MIR-584-3P | 99.35 | 67.69 | 1082 |
Functional genomics
DepMap (CRISPR cell-line fitness): dependent in 82.4% of screened cell lines.
Cross-species orthologs
3 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | mrpl57 | ENSDARG00000007285 |
| mus_musculus | Mrpl57 | ENSMUSG00000021967 |
| rattus_norvegicus | Mrpl57 | ENSRNOG00000081514 |
Protein
Protein identifiers
Large ribosomal subunit protein mL63 — Q9BQC6 (reviewed: Q9BQC6)
Alternative names: Mitochondrial ribosomal protein 63, Mitochondrial ribosomal protein L57, Ribosomal protein 63, mitochondrial
All UniProt accessions (1): Q9BQC6
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 mitochondrion-specific ribosomal protein mL63 family.
RefSeq proteins (1): NP_076931* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR016576 | Ribosomal_mL63 | Family |
Pfam: PF14978
UniProt features (9 total): helix 5, strand 2, chain 1, turn 1
Structure
Experimental structures (PDB)
85 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 |
| 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-Q9BQC6-F1 | 92.37 | 0.77 |
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: 139 (showing top):
BUYTAERT_PHOTODYNAMIC_THERAPY_STRESS_DN, STARK_PREFRONTAL_CORTEX_22Q11_DELETION_DN, GRAESSMANN_APOPTOSIS_BY_SERUM_DEPRIVATION_UP, GRAESSMANN_RESPONSE_TO_MC_AND_SERUM_DEPRIVATION_UP, GOBP_MITOCHONDRIAL_TRANSLATION, GOBP_TRANSLATION, MODULE_205, WANG_LMO4_TARGETS_DN, MILI_PSEUDOPODIA_HAPTOTAXIS_UP, BLALOCK_ALZHEIMERS_DISEASE_UP, GOMF_STRUCTURAL_CONSTITUENT_OF_RIBOSOME, GOCC_MITOCHONDRIAL_ENVELOPE, GOCC_LARGE_RIBOSOMAL_SUBUNIT, GOCC_RIBOSOME, NUYTTEN_EZH2_TARGETS_DN
GO Biological Process (2): mitochondrial translation (GO:0032543), translation (GO:0006412)
GO Molecular Function (2): structural constituent of ribosome (GO:0003735), protein binding (GO:0005515)
GO Cellular Component (6): mitochondrion (GO:0005739), mitochondrial inner membrane (GO:0005743), mitochondrial ribosome (GO:0005761), mitochondrial large ribosomal subunit (GO:0005762), 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 |
| binding | 1 |
| cytoplasm | 1 |
| intracellular membrane-bounded organelle | 1 |
| organelle inner membrane | 1 |
| mitochondrial membrane | 1 |
| organellar ribosome | 1 |
| mitochondrial matrix | 1 |
| organellar large ribosomal subunit | 1 |
| mitochondrial ribosome | 1 |
| mitochondrial protein-containing complex | 1 |
| intracellular membraneless organelle | 1 |
| protein-containing complex | 1 |
Protein interactions and networks
STRING
962 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| MRPL57 | MRPL1 | Q9BYD6 | 477 |
| MRPL57 | CCDC70 | Q6NSX1 | 457 |
| MRPL57 | MRPL58 | Q14197 | 440 |
| MRPL57 | SLC25A21 | Q9BQT8 | 412 |
| MRPL57 | MRPL54 | Q6P161 | 407 |
| MRPL57 | MRPL34 | Q9BQ48 | 400 |
| MRPL57 | MRPL52 | Q86TS9 | 393 |
| MRPL57 | MRPL43 | Q8N983 | 393 |
| MRPL57 | TMEM168 | Q9H0V1 | 388 |
| MRPL57 | SLC25A26 | Q70HW3 | 387 |
| MRPL57 | SLC25A29 | Q8N8R3 | 384 |
| MRPL57 | MRPL51 | Q4U2R6 | 371 |
| MRPL57 | MRPS15 | P82914 | 366 |
| MRPL57 | ARMCX2 | Q7L311 | 353 |
| MRPL57 | CHCHD1 | Q96BP2 | 328 |
IntAct
121 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| KBTBD7 | METTL15 | psi-mi:“MI:0914”(association) | 0.730 |
| MRPS30 | GTPBP10 | psi-mi:“MI:0914”(association) | 0.640 |
| LYRM7 | NDUFAB1 | psi-mi:“MI:0914”(association) | 0.640 |
| MRPL57 | CIDEB | psi-mi:“MI:0915”(physical association) | 0.560 |
| LEUTX | MRPL57 | 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 |
| MRPL41 | MRPL3 | psi-mi:“MI:0914”(association) | 0.530 |
| KBTBD7 | PLD2 | psi-mi:“MI:0914”(association) | 0.530 |
| MRPL2 | GTPBP10 | psi-mi:“MI:0914”(association) | 0.530 |
| FBXW11 | AHCYL1 | psi-mi:“MI:0914”(association) | 0.530 |
| HNRNPA1 | PTCD1 | 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 |
| NDUFAB1 | MIEF1 | psi-mi:“MI:0915”(physical association) | 0.490 |
| Sars1 | PARP10 | psi-mi:“MI:0914”(association) | 0.350 |
| MRPL1 | MRPL43 | psi-mi:“MI:0914”(association) | 0.350 |
| MRPL4 | ZSWIM8 | psi-mi:“MI:0914”(association) | 0.350 |
| MRPL12 | psi-mi:“MI:0914”(association) | 0.350 | |
| RPS8 | RRP8 | psi-mi:“MI:0914”(association) | 0.350 |
| HNRNPA1 | HNRNPR | psi-mi:“MI:0914”(association) | 0.350 |
| MRPL39 | PTCD1 | psi-mi:“MI:0914”(association) | 0.350 |
| FBXW11 | PTCD1 | psi-mi:“MI:0914”(association) | 0.350 |
BioGRID (135): MRPL57 (Affinity Capture-MS), MRPL57 (Affinity Capture-MS), MRPL57 (Affinity Capture-MS), MRPL57 (Affinity Capture-MS), MRPL57 (Affinity Capture-MS), MRPL57 (Affinity Capture-MS), MRPL57 (Two-hybrid), MRPL57 (Affinity Capture-MS), MRPL57 (Affinity Capture-MS), MRPL57 (Affinity Capture-MS), MRPL57 (Affinity Capture-MS), MRPL57 (Affinity Capture-MS), MRPL57 (Affinity Capture-MS), MRPL57 (Affinity Capture-MS), MRPL57 (Affinity Capture-MS)
ESM2 similar proteins: A1TYV1, A3M7E7, A4SHF6, A7HUX6, A7IDK1, A8IM57, A9HHS1, A9L948, B0VBX6, B0VUE9, B1VFG4, B2HVM2, B2ICM8, B4RYA0, B6INQ0, B7GZ34, B7I4A2, B8EK30, B8H4M5, C1D0Z8, G2TRQ8, O14187, P00129, P16135, P90993, Q02950, Q15N51, Q1GDB7, Q22438, Q28GD1, Q29PG4, Q2G8J9, Q2RVH2, Q4U2R6, Q5BJJ8, Q5FNB8, Q5ZKG1, Q61SE7, Q66KZ3, Q6CAD1
Diamond homologs: Q3ZC04, Q6PBR7, Q9BQC6, Q9CQF8
SIGNOR signaling
1 interactions.
| A | Effect | B | Mechanism |
|---|---|---|---|
| MRPL57 | “form complex” | “39S mitochondrial large ribosomal subunit” | binding |
Enriched among interaction partners
Reactome pathways and GO biological processes over-represented among this gene’s 109 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 | 30 | 49.8× | 1e-42 |
| Mitochondrial translation | 26 | 48.3× | 1e-36 |
| Mitochondrial translation initiation | 27 | 46.3× | 2e-37 |
| Mitochondrial translation elongation | 27 | 46.3× | 2e-37 |
| Mitochondrial translation termination | 27 | 40.1× | 1e-35 |
| Translation | 28 | 23.5× | 4e-30 |
| Peptide chain elongation | 8 | 13.7× | 3e-06 |
| Viral mRNA Translation | 8 | 13.7× | 3e-06 |
GO biological processes:
| GO term | Partners | Fold | FDR |
|---|---|---|---|
| mitochondrial translation | 29 | 51.9× | 1e-40 |
| translation | 23 | 24.4× | 1e-23 |
| cytoplasmic translation | 8 | 15.3× | 7e-06 |
| regulation of alternative mRNA splicing, via spliceosome | 5 | 12.6× | 4e-03 |
| negative regulation of translation | 5 | 10.1× | 7e-03 |
Disease & clinical
Clinical variants and AI predictions
ClinVar
12 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 9 |
| Likely benign | 3 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
102 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 13:21176715:CAGG:C | donor_loss | 1.0000 |
| 13:21176716:AGG:A | donor_loss | 1.0000 |
| 13:21176717:GGT:G | donor_loss | 1.0000 |
| 13:21176718:GTG:G | donor_loss | 1.0000 |
| 13:21176713:GGCAG:G | donor_gain | 0.9900 |
| 13:21176714:GCAG:G | donor_gain | 0.9900 |
| 13:21176714:GCAGG:G | donor_gain | 0.9900 |
| 13:21176718:G:GG | donor_gain | 0.9900 |
| 13:21176719:T:G | donor_loss | 0.9800 |
| 13:21176910:A:AG | acceptor_gain | 0.9800 |
| 13:21176911:G:GG | acceptor_gain | 0.9800 |
| 13:21176907:CGCA:C | acceptor_loss | 0.9700 |
| 13:21176908:GCA:G | acceptor_loss | 0.9700 |
| 13:21176909:CAGGC:C | acceptor_loss | 0.9700 |
| 13:21176911:G:GT | acceptor_loss | 0.9700 |
| 13:21176911:GGC:G | acceptor_gain | 0.9700 |
| 13:21176715:CAG:C | donor_gain | 0.9400 |
| 13:21176907:C:CA | acceptor_gain | 0.9400 |
| 13:21176716:AG:A | donor_gain | 0.9300 |
| 13:21176717:GG:G | donor_gain | 0.9300 |
| 13:21176911:GGCA:G | acceptor_gain | 0.9200 |
| 13:21176910:AG:A | acceptor_gain | 0.8800 |
| 13:21176911:GG:G | acceptor_gain | 0.8800 |
| 13:21176911:GGCAC:G | acceptor_gain | 0.8300 |
| 13:21176914:ACCAT:A | acceptor_gain | 0.7300 |
| 13:21176720:GAG:G | donor_loss | 0.7200 |
| 13:21176715:C:T | donor_gain | 0.7100 |
| 13:21176909:CA:C | acceptor_gain | 0.6800 |
| 13:21176906:CCGCA:C | acceptor_gain | 0.6700 |
| 13:21176908:GC:G | acceptor_gain | 0.6600 |
AlphaMissense
668 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 13:21177043:G:C | A43P | 0.943 |
| 13:21176972:G:A | G19E | 0.933 |
| 13:21177217:T:A | W101R | 0.925 |
| 13:21177217:T:C | W101R | 0.925 |
| 13:21176965:T:A | W17R | 0.920 |
| 13:21176965:T:C | W17R | 0.920 |
| 13:21177051:C:A | N45K | 0.920 |
| 13:21177051:C:G | N45K | 0.920 |
| 13:21176972:G:T | G19V | 0.905 |
| 13:21176976:G:C | K20N | 0.899 |
| 13:21176976:G:T | K20N | 0.899 |
| 13:21177064:A:C | S50R | 0.892 |
| 13:21177066:C:A | S50R | 0.892 |
| 13:21177066:C:G | S50R | 0.892 |
| 13:21176967:G:C | W17C | 0.888 |
| 13:21176967:G:T | W17C | 0.888 |
| 13:21177029:G:C | R38P | 0.881 |
| 13:21176971:G:T | G19W | 0.880 |
| 13:21177219:G:C | W101C | 0.879 |
| 13:21177219:G:T | W101C | 0.879 |
| 13:21177042:G:C | E42D | 0.872 |
| 13:21177042:G:T | E42D | 0.872 |
| 13:21176971:G:A | G19R | 0.867 |
| 13:21176971:G:C | G19R | 0.867 |
| 13:21177090:G:C | Q58H | 0.855 |
| 13:21177090:G:T | Q58H | 0.855 |
| 13:21177062:T:C | L49P | 0.850 |
| 13:21177141:G:C | K75N | 0.849 |
| 13:21177141:G:T | K75N | 0.849 |
| 13:21177127:T:C | F71L | 0.846 |
dbSNP variants (sampled 300 via entrez): RS1000055454 (13:21174738 A>T), RS1000835557 (13:21177917 C>T), RS1001108435 (13:21177333 C>G,T), RS1001287785 (13:21177699 G>A), RS1001517484 (13:21177331 G>C), RS1002275073 (13:21177030 C>G,T), RS1002551593 (13:21176318 G>A,T), RS1003227511 (13:21178635 ACATGGCGAAACCC>A), RS1004702542 (13:21178710 C>A,T), RS1005231739 (13:21176591 C>A,T), RS1005278643 (13:21174946 T>C), RS1005959117 (13:21178273 C>T), RS1006660465 (13:21176808 G>A,C), RS1006746976 (13:21179184 A>T), RS1007694154 (13:21175779 T>C)
Disease associations
OMIM: gene MIM:611997 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
2 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST002932_6 | Manganese levels | 6.000000e-06 |
| GCST007672_17 | 3-month functional outcome in ischaemic stroke (modified Rankin score) | 5.000000e-06 |
EFO canonical traits (1, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0009603 | stroke outcome severity measurement |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
28 total (human), top 28 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| methylmercuric chloride | decreases expression | 1 |
| bisphenol A | increases expression | 1 |
| sodium arsenite | decreases expression | 1 |
| cyclic 3’,5’-uridine monophosphate | affects binding | 1 |
| di-n-butylphosphoric acid | affects expression | 1 |
| corosolic acid | decreases expression | 1 |
| K 7174 | decreases expression | 1 |
| Resveratrol | affects cotreatment, increases expression | 1 |
| Arsenic Trioxide | increases expression | 1 |
| Coumestrol | increases expression | 1 |
| Doxorubicin | decreases expression | 1 |
| Ethyl Methanesulfonate | decreases expression | 1 |
| Gasoline | affects cotreatment, decreases expression, increases abundance | 1 |
| Methyl Methanesulfonate | decreases expression | 1 |
| Plant Extracts | affects cotreatment, increases expression | 1 |
| Polycyclic Aromatic Hydrocarbons | increases abundance, affects cotreatment, decreases expression | 1 |
| Ribonucleotides | affects binding | 1 |
| Smoke | decreases expression | 1 |
| Thiram | decreases expression | 1 |
| Urethane | decreases expression | 1 |
| Valproic Acid | increases expression | 1 |
| Vinblastine | affects response to substance | 1 |
| Paclitaxel | affects response to substance | 1 |
| Sodium Selenite | increases expression | 1 |
| Copper Sulfate | decreases expression | 1 |
| Topotecan | affects response to substance | 1 |
| Acrylamide | decreases expression | 1 |
| Particulate Matter | affects cotreatment, decreases expression, increases abundance | 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.