MRPL55
gene geneOn this page
Also known as bL31m
Summary
MRPL55 (mitochondrial ribosomal protein L55, HGNC:16686) is a protein-coding gene on chromosome 1q42.13, encoding Large ribosomal subunit protein mL55 (Q7Z7F7). It is a selective cancer dependency (DepMap: 64.7% 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. Multiple transcript variants encoding two different isoforms were identified through sequence analysis.
Source: NCBI Gene 128308 — RefSeq curated summary.
At a glance
- Clinical variants (ClinVar): 38 total
- Cancer dependency (DepMap): dependent in 64.7% of screened cell lines
- MANE Select transcript:
NM_181463
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:16686 |
| Approved symbol | MRPL55 |
| Name | mitochondrial ribosomal protein L55 |
| Location | 1q42.13 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | bL31m |
| Ensembl gene | ENSG00000162910 |
| Ensembl biotype | protein_coding |
| OMIM | 611859 |
| Entrez | 128308 |
Gene structure
Transcript identifiers
Ensembl transcripts: 123 — 115 protein_coding, 5 retained_intron, 3 protein_coding_CDS_not_defined
ENST00000295008, ENST00000336300, ENST00000336520, ENST00000348259, ENST00000366731, ENST00000366732, ENST00000366733, ENST00000366734, ENST00000366735, ENST00000366736, ENST00000366738, ENST00000366739, ENST00000366740, ENST00000366741, ENST00000366742, ENST00000366744, ENST00000366746, ENST00000366747, ENST00000391867, ENST00000411464, ENST00000430433, ENST00000457264, ENST00000459783, ENST00000464148, ENST00000465268, ENST00000473066, ENST00000475832, ENST00000476267, ENST00000483159, ENST00000489430, ENST00000492170, ENST00000495434, ENST00000495899, ENST00000497758, ENST00000877018, ENST00000877019, ENST00000877020, ENST00000877021, ENST00000877022, ENST00000877023, ENST00000877024, ENST00000877025, ENST00000877026, ENST00000877027, ENST00000877028, ENST00000877029, ENST00000877030, ENST00000877031, ENST00000877032, ENST00000877033, ENST00000877034, ENST00000877035, ENST00000877036, ENST00000877037, ENST00000877038, ENST00000877039, ENST00000877040, ENST00000877041, ENST00000877042, ENST00000877043, ENST00000877044, ENST00000877045, ENST00000877046, ENST00000877047, ENST00000877048, ENST00000877049, ENST00000877050, ENST00000877051, ENST00000877052, ENST00000877053, ENST00000877054, ENST00000877055, ENST00000877056, ENST00000877057, ENST00000927937, ENST00000927938, ENST00000927939, ENST00000927940, ENST00000927941, ENST00000927942, ENST00000927943, ENST00000927944, ENST00000927945, ENST00000927946, ENST00000927947, ENST00000927948, ENST00000927949, ENST00000927950, ENST00000927951, ENST00000927952, ENST00000927953, ENST00000927954, ENST00000927955, ENST00000927956, ENST00000927957, ENST00000927958, ENST00000927959, ENST00000927960, ENST00000927961, ENST00000927962, ENST00000927963, ENST00000927964, ENST00000927965, ENST00000927966, ENST00000927967, ENST00000927968, ENST00000927969, ENST00000927970, ENST00000927971, ENST00000927972, ENST00000927973, ENST00000927974, ENST00000927975, ENST00000927976, ENST00000927977, ENST00000927978, ENST00000927979, ENST00000927980, ENST00000927981, ENST00000927982, ENST00000957205, ENST00000957206, ENST00000957207
RefSeq mRNA: 9 — MANE Select: NM_181463
NM_001321284, NM_181441, NM_181454, NM_181455, NM_181456, NM_181462, NM_181463, NM_181464, NM_181465
CCDS: CCDS1567, CCDS44325
Canonical transcript exons
ENST00000336520 — 5 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001337183 | 228108955 | 228109021 |
| ENSE00001897589 | 228109149 | 228109299 |
| ENSE00003556550 | 228107668 | 228107869 |
| ENSE00003680201 | 228108235 | 228108318 |
| ENSE00003841621 | 228106685 | 228106918 |
Expression profiles
Bgee: expression breadth ubiquitous, 234 present calls, max score 96.89.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 40.8619 / max 256.1624, expressed in 1820 samples.
FANTOM5 promoters (3 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 17817 | 39.2329 | 1820 |
| 17816 | 1.2775 | 833 |
| 17815 | 0.3516 | 157 |
Top tissues by expression
250 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| apex of heart | UBERON:0002098 | 96.89 | gold quality |
| prefrontal cortex | UBERON:0000451 | 96.41 | gold quality |
| right lobe of liver | UBERON:0001114 | 96.30 | gold quality |
| Brodmann (1909) area 9 | UBERON:0013540 | 96.07 | gold quality |
| anterior cingulate cortex | UBERON:0009835 | 95.84 | gold quality |
| olfactory segment of nasal mucosa | UBERON:0005386 | 95.71 | gold quality |
| hindlimb stylopod muscle | UBERON:0004252 | 95.68 | gold quality |
| adenohypophysis | UBERON:0002196 | 95.67 | gold quality |
| right adrenal gland | UBERON:0001233 | 95.60 | gold quality |
| left adrenal gland cortex | UBERON:0035825 | 95.53 | gold quality |
| right adrenal gland cortex | UBERON:0035827 | 95.53 | gold quality |
| right frontal lobe | UBERON:0002810 | 95.38 | gold quality |
| left adrenal gland | UBERON:0001234 | 95.30 | gold quality |
| esophagogastric junction muscularis propria | UBERON:0035841 | 95.02 | gold quality |
| amygdala | UBERON:0001876 | 94.89 | gold quality |
| hypothalamus | UBERON:0001898 | 94.82 | gold quality |
| muscle layer of sigmoid colon | UBERON:0035805 | 94.75 | gold quality |
| body of stomach | UBERON:0001161 | 94.74 | gold quality |
| adrenal cortex | UBERON:0001235 | 94.72 | gold quality |
| C1 segment of cervical spinal cord | UBERON:0006469 | 94.72 | gold quality |
| lower esophagus muscularis layer | UBERON:0035833 | 94.71 | gold quality |
| lower esophagus | UBERON:0013473 | 94.70 | gold quality |
| putamen | UBERON:0001874 | 94.69 | gold quality |
| nucleus accumbens | UBERON:0001882 | 94.61 | gold quality |
| metanephros cortex | UBERON:0010533 | 94.48 | gold quality |
| left coronary artery | UBERON:0001626 | 94.41 | gold quality |
| left lobe of thyroid gland | UBERON:0001120 | 94.37 | gold quality |
| endocervix | UBERON:0000458 | 94.31 | gold quality |
| right lobe of thyroid gland | UBERON:0001119 | 94.30 | gold quality |
| right atrium auricular region | UBERON:0006631 | 94.30 | gold quality |
Single-cell (SCXA)
Detected in 2 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-GEOD-75367 | no | 416.70 |
| E-ANND-3 | no | 0.00 |
Regulation
Is transcription factor: no
Functional genomics
DepMap (CRISPR cell-line fitness): dependent in 64.7% of screened cell lines.
Cross-species orthologs
2 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| mus_musculus | Mrpl55 | ENSMUSG00000036860 |
| rattus_norvegicus | Mrpl55 | ENSRNOG00000002943 |
Protein
Protein identifiers
Large ribosomal subunit protein mL55 — Q7Z7F7 (reviewed: Q7Z7F7)
Alternative names: 39S ribosomal protein L55, mitochondrial, Mitochondrial large ribosomal subunit protein bL31m
All UniProt accessions (6): A0A087X2A2, A0A0A0MST4, A0A0G2JMK5, Q7Z7F7, X6R631, X6RIW1
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 mL55 family.
Isoforms (2)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q7Z7F7-1 | 1 | yes |
| Q7Z7F7-2 | 2 |
RefSeq proteins (9): NP_001308213, NP_852106, NP_852119, NP_852120, NP_852121, NP_852127, NP_852128, NP_852129, NP_852130 (=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR018615 | Ribosomal_mL55 | Family |
| IPR044884 | Ribosomal_mL55_sf | Homologous_superfamily |
Pfam: PF09776
UniProt features (11 total): strand 4, sequence variant 2, transit peptide 1, chain 1, modified residue 1, splice variant 1, helix 1
Structure
Experimental structures (PDB)
82 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 |
| 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 |
| 8OIS | ELECTRON MICROSCOPY | 3 |
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q7Z7F7-F1 | 79.80 | 0.38 |
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): 85
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: 87 (showing top):
STARK_PREFRONTAL_CORTEX_22Q11_DELETION_DN, GOBP_MITOCHONDRIAL_TRANSLATION, GOBP_TRANSLATION, GOMF_STRUCTURAL_CONSTITUENT_OF_RIBOSOME, GOCC_MITOCHONDRIAL_ENVELOPE, GOCC_LARGE_RIBOSOMAL_SUBUNIT, GOCC_RIBOSOME, GOCC_ORGANELLAR_RIBOSOME, GOCC_MITOCHONDRIAL_MATRIX, GOCC_ORGANELLE_INNER_MEMBRANE, GOCC_RIBOSOMAL_SUBUNIT, GOCC_RIBONUCLEOPROTEIN_COMPLEX, GOCC_MITOCHONDRIAL_PROTEIN_CONTAINING_COMPLEX, GOMF_STRUCTURAL_MOLECULE_ACTIVITY, GOCC_ORGANELLE_ENVELOPE
GO Biological Process (2): translation (GO:0006412), mitochondrial translation (GO:0032543)
GO Molecular Function (1): structural constituent of ribosome (GO:0003735)
GO Cellular Component (5): mitochondrion (GO:0005739), mitochondrial inner membrane (GO:0005743), 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 |
|---|---|
| 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 |
| 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 |
| intracellular membraneless organelle | 1 |
| protein-containing complex | 1 |
Protein interactions and networks
STRING
1488 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| MRPL55 | MRPL52 | Q86TS9 | 721 |
| MRPL55 | MRPS30 | Q9NP92 | 644 |
| MRPL55 | MRPL51 | Q4U2R6 | 614 |
| MRPL55 | MRPS14 | O60783 | 577 |
| MRPL55 | RPL6 | Q02878 | 555 |
| MRPL55 | RPL26 | P61254 | 522 |
| MRPL55 | MRPS25 | P82663 | 510 |
| MRPL55 | MRPL43 | Q8N983 | 484 |
| MRPL55 | SYF2 | O95926 | 480 |
| MRPL55 | MRPS21 | P82921 | 478 |
| MRPL55 | BEAN1 | Q3B7T3 | 475 |
| MRPL55 | COMMD5 | Q9GZQ3 | 469 |
| MRPL55 | LDHD | Q86WU2 | 464 |
| MRPL55 | CCNDBP1 | O95273 | 455 |
| MRPL55 | MRPS15 | P82914 | 452 |
IntAct
111 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| PLK1 | EVI5 | psi-mi:“MI:0914”(association) | 0.660 |
| 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 |
| MRPL50 | GTPBP10 | psi-mi:“MI:0914”(association) | 0.530 |
| MRPL2 | GTPBP10 | psi-mi:“MI:0914”(association) | 0.530 |
| MRPL46 | MRPL55 | 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 |
| MRPL27 | MRPL33 | psi-mi:“MI:0914”(association) | 0.530 |
| NDUFAB1 | MIEF1 | psi-mi:“MI:0915”(physical association) | 0.490 |
| Cdca5 | ATP5MF-PTCD1 | psi-mi:“MI:0914”(association) | 0.350 |
| CHORDC1 | SSR3 | psi-mi:“MI:0914”(association) | 0.350 |
| PARD6B | PARD3 | psi-mi:“MI:0914”(association) | 0.350 |
| Cdc26 | psi-mi:“MI:0914”(association) | 0.350 | |
| Rab5c | psi-mi:“MI:0914”(association) | 0.350 | |
| MYO1C | PLEKHG3 | psi-mi:“MI:0914”(association) | 0.350 |
| RAB5C | psi-mi:“MI:0914”(association) | 0.350 | |
| CBX4 | SDC2 | psi-mi:“MI:0914”(association) | 0.350 |
| Cdkn2aip | SF1 | psi-mi:“MI:0914”(association) | 0.350 |
| UGGT1 | SF3B1 | psi-mi:“MI:0914”(association) | 0.350 |
| HNRNPD | ARHGAP32 | psi-mi:“MI:0914”(association) | 0.350 |
| BAG6 | CNOT1 | psi-mi:“MI:0914”(association) | 0.350 |
| SORT1 | SH3PXD2B | psi-mi:“MI:0914”(association) | 0.350 |
BioGRID (172): MRPL55 (Affinity Capture-MS), MRPL55 (Affinity Capture-MS), MRPL55 (Affinity Capture-MS), MRPL55 (Affinity Capture-MS), MRPL55 (Affinity Capture-MS), MRPL55 (Affinity Capture-MS), MRPL55 (Affinity Capture-MS), MRPL55 (Affinity Capture-MS), MRPL55 (Affinity Capture-MS), MRPL55 (Affinity Capture-MS), MRPL55 (Co-fractionation), MRPL55 (Co-fractionation), MRPL55 (Co-fractionation), MRPL55 (Affinity Capture-MS), MRPL55 (Affinity Capture-MS)
ESM2 similar proteins: A1A4P4, M0R3K6, O09111, P0C2B7, P0C2B8, P0C2B9, P56181, P82649, P82927, P83565, Q08DT6, Q0MQJ0, Q0MQJ1, Q0MQJ2, Q0MQJ3, Q0MQJ4, Q0MQJ5, Q1ECT8, Q290P4, Q3SZ86, Q4G0I0, Q4V7Q1, Q5R4S3, Q5RFR4, Q5TC12, Q5XIC2, Q5XJW2, Q6DQX6, Q7Z7F7, Q80ZS3, Q811I0, Q86TS9, Q8HXG5, Q8K2Y7, Q8SPE7, Q8TAE8, Q9BYN8, Q9C086, Q9CPV3, Q9CR59
Diamond homologs: P0C2B8, Q7Z7F7, Q9CZ83, Q9VE04
SIGNOR signaling
1 interactions.
| A | Effect | B | Mechanism |
|---|---|---|---|
| MRPL55 | “form complex” | “39S mitochondrial large ribosomal subunit” | binding |
Enriched among interaction partners
Reactome pathways and GO biological processes over-represented among this gene’s 98 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 | 29 | 46.9× | 4e-40 |
| Mitochondrial translation | 24 | 43.5× | 2e-32 |
| Mitochondrial translation initiation | 26 | 43.4× | 4e-35 |
| Mitochondrial translation elongation | 26 | 43.4× | 4e-35 |
| Mitochondrial translation termination | 26 | 37.6× | 2e-33 |
| Translation | 26 | 21.2× | 2e-26 |
| Peptide chain elongation | 10 | 16.7× | 1e-08 |
| Viral mRNA Translation | 10 | 16.7× | 1e-08 |
GO biological processes:
| GO term | Partners | Fold | FDR |
|---|---|---|---|
| mitochondrial translation | 28 | 54.7× | 1e-39 |
| translation | 24 | 27.7× | 4e-26 |
| cytoplasmic translation | 10 | 20.8× | 7e-09 |
| negative regulation of translation | 7 | 15.4× | 4e-05 |
Disease & clinical
Clinical variants and AI predictions
ClinVar
38 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 28 |
| Likely benign | 1 |
| Benign | 1 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
396 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 1:228106914:GGCAT:G | acceptor_gain | 1.0000 |
| 1:228106915:GCAT:G | acceptor_gain | 1.0000 |
| 1:228106916:CATC:C | acceptor_gain | 1.0000 |
| 1:228106919:C:CC | acceptor_gain | 1.0000 |
| 1:228106919:CTG:C | acceptor_loss | 1.0000 |
| 1:228107661:AGCTT:A | donor_loss | 1.0000 |
| 1:228107663:CTTA:C | donor_loss | 1.0000 |
| 1:228107665:TACCG:T | donor_loss | 1.0000 |
| 1:228107666:A:AC | donor_gain | 1.0000 |
| 1:228107666:ACCG:A | donor_gain | 1.0000 |
| 1:228107667:C:A | donor_loss | 1.0000 |
| 1:228107667:C:CC | donor_gain | 1.0000 |
| 1:228107667:CCG:C | donor_gain | 1.0000 |
| 1:228107667:CCGC:C | donor_gain | 1.0000 |
| 1:228106916:CAT:C | acceptor_gain | 0.9900 |
| 1:228106917:AT:A | acceptor_gain | 0.9900 |
| 1:228107662:GCTT:G | donor_gain | 0.9900 |
| 1:228107664:TTA:T | donor_gain | 0.9900 |
| 1:228107665:T:TC | donor_gain | 0.9900 |
| 1:228107666:A:G | donor_gain | 0.9900 |
| 1:228107666:ACCGC:A | donor_gain | 0.9900 |
| 1:228107667:C:T | donor_gain | 0.9900 |
| 1:228107667:CCGCC:C | donor_gain | 0.9900 |
| 1:228107688:C:CA | donor_gain | 0.9900 |
| 1:228107866:CCGG:C | acceptor_gain | 0.9900 |
| 1:228107867:CGG:C | acceptor_gain | 0.9900 |
| 1:228107867:CGGC:C | acceptor_gain | 0.9900 |
| 1:228107870:C:CC | acceptor_gain | 0.9900 |
| 1:228106915:GCATC:G | acceptor_gain | 0.9800 |
| 1:228106916:CATCT:C | acceptor_gain | 0.9800 |
AlphaMissense
809 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 1:228107742:A:C | Y52D | 0.907 |
| 1:228107712:A:G | S62P | 0.903 |
| 1:228106881:C:G | R89P | 0.875 |
| 1:228107714:C:A | G61V | 0.870 |
| 1:228107699:A:T | I66N | 0.865 |
| 1:228107684:G:T | P71Q | 0.840 |
| 1:228106781:G:C | F122L | 0.834 |
| 1:228106781:G:T | F122L | 0.834 |
| 1:228106783:A:G | F122L | 0.834 |
| 1:228107716:A:C | D60E | 0.827 |
| 1:228107716:A:T | D60E | 0.827 |
| 1:228107685:G:A | P71S | 0.825 |
| 1:228107791:G:C | S35R | 0.821 |
| 1:228107791:G:T | S35R | 0.821 |
| 1:228107793:T:G | S35R | 0.821 |
| 1:228107681:C:G | R72P | 0.805 |
| 1:228107742:A:T | Y52N | 0.805 |
| 1:228107699:A:C | I66S | 0.797 |
| 1:228107694:A:C | Y68D | 0.795 |
| 1:228107718:C:G | D60H | 0.789 |
| 1:228107763:G:T | R45S | 0.784 |
| 1:228107741:T:G | Y52S | 0.781 |
| 1:228107714:C:T | G61D | 0.780 |
| 1:228107735:A:T | V54E | 0.774 |
| 1:228107699:A:G | I66T | 0.769 |
| 1:228107685:G:T | P71T | 0.763 |
| 1:228107717:T:A | D60V | 0.763 |
| 1:228106882:G:T | R89S | 0.762 |
| 1:228106778:C:A | W123C | 0.758 |
| 1:228106778:C:G | W123C | 0.758 |
dbSNP variants (sampled 300 via entrez): RS1000496843 (1:228109242 A>G), RS1001112946 (1:228107406 A>C), RS1001754115 (1:228110706 G>A), RS1002092502 (1:228109099 G>C), RS1003887443 (1:228109274 G>A,C,T), RS1004001876 (1:228109453 C>CG), RS1004181897 (1:228108389 C>T), RS1004515162 (1:228107282 G>A,C), RS1004896319 (1:228110552 A>G), RS1007243767 (1:228106790 G>A), RS1007857087 (1:228109873 G>C), RS1008475603 (1:228109443 G>A), RS1008817384 (1:228108120 A>G), RS1009369409 (1:228109406 G>T), RS1009730022 (1:228109203 C>T)
Disease associations
OMIM: gene MIM:611859 | 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
25 total (human), top 25 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Benzo(a)pyrene | decreases expression, decreases methylation | 3 |
| triphenyl phosphate | affects expression | 1 |
| bisphenol A | decreases expression | 1 |
| beta-lapachone | increases expression | 1 |
| arsenite | increases reaction, affects binding | 1 |
| sodium arsenite | increases abundance, increases expression | 1 |
| perfluorooctane sulfonic acid | increases expression | 1 |
| CGP 52608 | affects binding, increases reaction | 1 |
| 2-palmitoylglycerol | increases expression | 1 |
| ICG 001 | decreases expression | 1 |
| jinfukang | increases expression | 1 |
| Acetaminophen | increases expression | 1 |
| Ethanol | affects cotreatment, increases abundance, increases expression | 1 |
| Arsenic | increases abundance, increases expression | 1 |
| Dietary Carbohydrates | decreases expression | 1 |
| Diethylstilbestrol | decreases expression | 1 |
| Doxorubicin | increases expression | 1 |
| Gasoline | affects cotreatment, increases abundance, increases expression | 1 |
| Hydrogen Peroxide | affects expression | 1 |
| Polycyclic Aromatic Hydrocarbons | affects cotreatment, increases abundance, increases expression | 1 |
| Smoke | decreases expression | 1 |
| Thiram | decreases expression | 1 |
| Urethane | decreases expression | 1 |
| Asbestos, Crocidolite | increases expression | 1 |
| Particulate Matter | affects cotreatment, increases abundance, increases 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.