MRPL16
gene geneOn this page
Also known as FLJ20484PNAS-111uL16m
Summary
MRPL16 (mitochondrial ribosomal protein L16, HGNC:14476) is a protein-coding gene on chromosome 11q12.1, encoding Large ribosomal subunit protein uL16m (Q9NX20). It is a selective cancer dependency (DepMap: 56.7% 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.
Source: NCBI Gene 54948 — RefSeq curated summary.
At a glance
- Clinical variants (ClinVar): 47 total
- Cancer dependency (DepMap): dependent in 56.7% of screened cell lines
- MANE Select transcript:
NM_017840
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:14476 |
| Approved symbol | MRPL16 |
| Name | mitochondrial ribosomal protein L16 |
| Location | 11q12.1 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | FLJ20484, PNAS-111, uL16m |
| Ensembl gene | ENSG00000166902 |
| Ensembl biotype | protein_coding |
| OMIM | 611829 |
| Entrez | 54948 |
Gene structure
Transcript identifiers
Ensembl transcripts: 7 — 5 protein_coding, 2 retained_intron
ENST00000300151, ENST00000525470, ENST00000531802, ENST00000534340, ENST00000884381, ENST00000923616, ENST00000923617
RefSeq mRNA: 1 — MANE Select: NM_017840
NM_017840
CCDS: CCDS7976
Canonical transcript exons
ENST00000300151 — 4 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001107615 | 59806140 | 59806832 |
| ENSE00001107620 | 59810604 | 59810778 |
| ENSE00003583764 | 59807701 | 59807849 |
| ENSE00003669119 | 59809855 | 59809920 |
Expression profiles
Bgee: expression breadth ubiquitous, 278 present calls, max score 96.99.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 65.9732 / max 350.5138, expressed in 1822 samples.
FANTOM5 promoters (1 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 119881 | 65.9732 | 1822 |
Top tissues by expression
287 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| apex of heart | UBERON:0002098 | 96.99 | gold quality |
| right adrenal gland | UBERON:0001233 | 96.42 | gold quality |
| heart left ventricle | UBERON:0002084 | 96.26 | gold quality |
| cardiac ventricle | UBERON:0002082 | 96.23 | gold quality |
| mucosa of transverse colon | UBERON:0004991 | 96.21 | gold quality |
| right adrenal gland cortex | UBERON:0035827 | 96.11 | gold quality |
| left adrenal gland | UBERON:0001234 | 96.01 | gold quality |
| left adrenal gland cortex | UBERON:0035825 | 95.91 | gold quality |
| hindlimb stylopod muscle | UBERON:0004252 | 95.90 | gold quality |
| right atrium auricular region | UBERON:0006631 | 95.83 | gold quality |
| adrenal cortex | UBERON:0001235 | 95.77 | gold quality |
| heart right ventricle | UBERON:0002080 | 95.74 | gold quality |
| heart | UBERON:0000948 | 95.43 | gold quality |
| cardiac atrium | UBERON:0002081 | 95.22 | gold quality |
| rectum | UBERON:0001052 | 95.13 | gold quality |
| adrenal gland | UBERON:0002369 | 95.11 | gold quality |
| body of tongue | UBERON:0011876 | 94.78 | gold quality |
| transverse colon | UBERON:0001157 | 94.58 | gold quality |
| right lobe of liver | UBERON:0001114 | 94.56 | gold quality |
| body of pancreas | UBERON:0001150 | 94.56 | gold quality |
| body of stomach | UBERON:0001161 | 94.54 | gold quality |
| muscle of leg | UBERON:0001383 | 94.31 | gold quality |
| lower esophagus muscularis layer | UBERON:0035833 | 94.31 | gold quality |
| lower esophagus | UBERON:0013473 | 94.30 | gold quality |
| biceps brachii | UBERON:0001507 | 94.17 | gold quality |
| gastrocnemius | UBERON:0001388 | 94.13 | gold quality |
| vena cava | UBERON:0004087 | 94.02 | silver quality |
| renal medulla | UBERON:0000362 | 94.01 | gold quality |
| muscle layer of sigmoid colon | UBERON:0035805 | 93.96 | gold quality |
| muscle organ | UBERON:0001630 | 93.95 | gold quality |
Single-cell (SCXA)
Detected in 2 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-MTAB-7606 | no | 244.38 |
| E-ANND-3 | no | 0.00 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
22 targeting MRPL16, 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-3065-5P | 99.97 | 71.56 | 3281 |
| HSA-MIR-551B-5P | 99.96 | 71.28 | 3493 |
| HSA-MIR-3942-3P | 99.57 | 69.03 | 2854 |
| HSA-MIR-4328 | 99.57 | 71.06 | 4094 |
| HSA-MIR-3616-5P | 99.55 | 67.02 | 989 |
| HSA-MIR-573 | 99.55 | 67.44 | 955 |
| HSA-MIR-7159-5P | 99.53 | 72.12 | 2472 |
| HSA-MIR-582-5P | 99.47 | 70.79 | 2635 |
| HSA-MIR-513A-3P | 99.39 | 70.63 | 3620 |
| HSA-MIR-513C-3P | 99.39 | 70.63 | 3620 |
| HSA-MIR-3140-5P | 99.39 | 69.04 | 1136 |
| HSA-MIR-135A-5P | 99.36 | 71.85 | 1601 |
| HSA-MIR-135B-5P | 99.36 | 71.63 | 1613 |
| HSA-MIR-3606-3P | 99.11 | 69.84 | 3254 |
| HSA-MIR-4478 | 99.07 | 65.16 | 2320 |
| HSA-MIR-222-5P | 98.75 | 69.17 | 1242 |
| HSA-MIR-6868-3P | 98.63 | 69.64 | 2259 |
| HSA-MIR-1248 | 98.47 | 67.54 | 1314 |
| HSA-MIR-6783-5P | 97.67 | 67.21 | 1528 |
| HSA-MIR-194-3P | 97.36 | 65.96 | 1027 |
| HSA-MIR-4448 | 97.04 | 66.22 | 752 |
| HSA-MIR-6734-5P | 95.70 | 65.56 | 950 |
Functional genomics
DepMap (CRISPR cell-line fitness): dependent in 56.7% of screened cell lines.
Literature-anchored findings (GeneRIF, showing 1)
- Results from a study on gene expression variability markers in early-stage human embryos shows that MRPL16 is a putative variability and gene expression level marker for the 3-day, 8-cell embryo stage. (PMID:26288249)
Cross-species orthologs
5 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | mrpl16 | ENSDARG00000075325 |
| mus_musculus | Mrpl16 | ENSMUSG00000024683 |
| rattus_norvegicus | Mrpl16 | ENSRNOG00000021005 |
| drosophila_melanogaster | mRpL16 | FBGN0023519 |
| caenorhabditis_elegans | WBGENE00011412 |
Protein
Protein identifiers
Large ribosomal subunit protein uL16m — Q9NX20 (reviewed: Q9NX20)
Alternative names: 39S ribosomal protein L16, mitochondrial
All UniProt accessions (2): Q9NX20, E9PI14
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 uL16 family.
RefSeq proteins (1): NP_060310* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR000114 | Ribosomal_uL16_bact | Family |
| IPR016180 | Ribosomal_uL16_dom | Domain |
| IPR036920 | Ribosomal_uL16_sf | Homologous_superfamily |
| IPR047873 | Ribosomal_uL16 | Family |
Pfam: PF00252
UniProt features (26 total): strand 11, helix 7, sequence variant 3, turn 2, transit peptide 1, chain 1, sequence conflict 1
Structure
Experimental structures (PDB)
87 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-Q9NX20-F1 | 88.97 | 0.83 |
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: 130 (showing top):
GOBP_MITOCHONDRIAL_TRANSLATION, IVANOVA_HEMATOPOIESIS_LATE_PROGENITOR, GOBP_TRANSLATION, GOMF_STRUCTURAL_CONSTITUENT_OF_RIBOSOME, GNF2_FBL, GOCC_MITOCHONDRIAL_ENVELOPE, BERENJENO_TRANSFORMED_BY_RHOA_UP, GOCC_LARGE_RIBOSOMAL_SUBUNIT, GOCC_RIBOSOME, GOCC_ORGANELLAR_RIBOSOME, GOCC_MITOCHONDRIAL_MATRIX, GOCC_ORGANELLE_INNER_MEMBRANE, GOCC_RIBOSOMAL_SUBUNIT, BLALOCK_ALZHEIMERS_DISEASE_DN, GOCC_RIBONUCLEOPROTEIN_COMPLEX
GO Biological Process (2): mitochondrial translation (GO:0032543), translation (GO:0006412)
GO Molecular Function (2): structural constituent of ribosome (GO:0003735), rRNA binding (GO:0019843)
GO Cellular Component (6): mitochondrion (GO:0005739), mitochondrial inner membrane (GO:0005743), mitochondrial large ribosomal subunit (GO:0005762), ribosome (GO:0005840), large ribosomal subunit (GO:0015934), 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 |
| RNA binding | 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 |
| ribosomal subunit | 1 |
| protein-containing complex | 1 |
Protein interactions and networks
STRING
4303 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| MRPL16 | MRPL24 | Q96A35 | 717 |
| MRPL16 | MRPL21 | Q7Z2W9 | 709 |
| MRPL16 | MRPL17 | Q9NRX2 | 666 |
| MRPL16 | MRPL2 | Q5T653 | 662 |
| MRPL16 | MRPS16 | Q9Y3D3 | 595 |
| MRPL16 | MRPL30 | Q8TCC3 | 591 |
| MRPL16 | MRPS11 | P82912 | 575 |
| MRPL16 | MRPL11 | Q9Y3B7 | 561 |
| MRPL16 | MRPL33 | O75394 | 552 |
| MRPL16 | MRPS2 | Q9Y399 | 551 |
| MRPL16 | MRPS18C | Q9Y3D5 | 534 |
| MRPL16 | MRPS18A | Q9NVS2 | 529 |
| MRPL16 | MRPL20 | Q9BYC9 | 522 |
| MRPL16 | MRPS5 | P82675 | 507 |
| MRPL16 | KGD4 | P82909 | 492 |
IntAct
179 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| YBX1 | HNRNPR | psi-mi:“MI:0914”(association) | 0.770 |
| NDUFS3 | NDUFS8 | psi-mi:“MI:0914”(association) | 0.730 |
| MRPL37 | HSPD1 | psi-mi:“MI:0914”(association) | 0.710 |
| CFTR | ESYT2 | psi-mi:“MI:2364”(proximity) | 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 |
| MRPL50 | GTPBP10 | psi-mi:“MI:0914”(association) | 0.530 |
| DHX32 | POLRMT | psi-mi:“MI:0914”(association) | 0.530 |
| RPL18 | NOP56 | 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 |
| MRPL16 | HSPD1 | 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 |
| MRPL16 | MRPL2 | psi-mi:“MI:0914”(association) | 0.530 |
| ABT1 | ZNF316 | 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 |
| DDX21 | MED19 | psi-mi:“MI:2364”(proximity) | 0.480 |
BioGRID (237): MRPL16 (Affinity Capture-MS), HNRNPA1 (Affinity Capture-MS), MRPL16 (Affinity Capture-MS), MRPL16 (Affinity Capture-MS), MRPL16 (Affinity Capture-MS), MRPL16 (Affinity Capture-MS), MRPL16 (Affinity Capture-MS), MRPL16 (Affinity Capture-MS), MRPL16 (Affinity Capture-MS), MRPL16 (Co-fractionation), MRPL16 (Co-fractionation), MRPL16 (Co-fractionation), MRPS7 (Co-fractionation), MRPL16 (Affinity Capture-MS), MRPL16 (Affinity Capture-MS)
ESM2 similar proteins: A0A1D8PDL6, A1CJS8, A1D7P0, A3LQ06, A5DCN7, A5DZE1, A6R3Q6, A6S4J2, A6ZR80, A7TIZ1, O01802, O60143, P05737, P0CQ60, P0CQ61, P0CU36, P11874, P25457, P40078, P60039, P60040, Q0UV95, Q12213, Q1DQ27, Q4P3S7, Q4WX36, Q54GN8, Q54J69, Q5A2Y7, Q5AIB8, Q5B954, Q5M818, Q5R7L3, Q5ZKT8, Q6AZN4, Q6BTA4, Q6BU14, Q6C603, Q6C6D1, Q6CNC5
Diamond homologs: A0ALW1, A0RM18, A0T0I6, A0T0Y0, A1A076, A1W1V3, A2RC21, A3CK70, A4XLS3, A5USI2, A5VLJ8, A6MW08, A6QCQ5, A7H105, A7H649, A7HBM5, A7NR56, A7ZG05, A8AZL8, A8FP14, A8Z675, A9B419, A9KJI7, A9NEE0, A9WH73, B0RZU7, B1I8K5, B1MW07, B2G8X1, B2IS47, B2RLY5, B3DQC1, B4U507, B5E6G2, B5XJ43, B7GND3, B8DB15, B8G6R8, B8ZKG4, B9DSV7
SIGNOR signaling
1 interactions.
| A | Effect | B | Mechanism |
|---|---|---|---|
| MRPL16 | “form complex” | “39S mitochondrial large ribosomal subunit” | binding |
Enriched among interaction partners
Reactome pathways and GO biological processes over-represented among this gene’s 161 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 | 37 | 37.5× | 6e-48 |
| Mitochondrial translation | 31 | 35.2× | 4e-39 |
| Mitochondrial translation initiation | 33 | 34.6× | 2e-41 |
| Mitochondrial translation elongation | 33 | 34.6× | 2e-41 |
| Mitochondrial translation termination | 33 | 29.9× | 4e-39 |
| Translation | 34 | 17.4× | 1e-31 |
| Peptide chain elongation | 11 | 11.5× | 1e-07 |
| Viral mRNA Translation | 11 | 11.5× | 1e-07 |
GO biological processes:
| GO term | Partners | Fold | FDR |
|---|---|---|---|
| mitochondrial translation | 35 | 41.4× | 2e-45 |
| mitochondrial large ribosomal subunit assembly | 5 | 33.7× | 4e-05 |
| translation | 31 | 21.7× | 2e-30 |
| cytoplasmic translation | 12 | 15.1× | 6e-09 |
| negative regulation of translation | 9 | 12.0× | 1e-05 |
| rRNA processing | 8 | 7.7× | 1e-03 |
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 | 41 |
| Likely benign | 1 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
523 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 11:59806829:ATGCC:A | acceptor_loss | 1.0000 |
| 11:59806831:GCC:G | acceptor_loss | 1.0000 |
| 11:59806833:CTAAA:C | acceptor_loss | 1.0000 |
| 11:59807694:CACT:C | donor_loss | 1.0000 |
| 11:59807695:ACTC:A | donor_loss | 1.0000 |
| 11:59807696:CTCA:C | donor_loss | 1.0000 |
| 11:59807697:TCA:T | donor_loss | 1.0000 |
| 11:59807698:CACC:C | donor_loss | 1.0000 |
| 11:59807699:A:AC | donor_gain | 1.0000 |
| 11:59807699:A:AG | donor_loss | 1.0000 |
| 11:59807700:C:CC | donor_gain | 1.0000 |
| 11:59807700:C:CG | donor_loss | 1.0000 |
| 11:59807847:CAT:C | acceptor_gain | 1.0000 |
| 11:59807849:TCT:T | acceptor_loss | 1.0000 |
| 11:59807850:C:CC | acceptor_gain | 1.0000 |
| 11:59807850:CTAAA:C | acceptor_loss | 1.0000 |
| 11:59807851:T:C | acceptor_loss | 1.0000 |
| 11:59809850:CTCA:C | donor_loss | 1.0000 |
| 11:59809851:TCAC:T | donor_loss | 1.0000 |
| 11:59809853:A:AG | donor_loss | 1.0000 |
| 11:59809854:CCTTC:C | donor_loss | 1.0000 |
| 11:59809918:AATC:A | acceptor_loss | 1.0000 |
| 11:59809919:ATC:A | acceptor_loss | 1.0000 |
| 11:59809920:TCTA:T | acceptor_loss | 1.0000 |
| 11:59809921:C:CC | acceptor_gain | 1.0000 |
| 11:59809921:CT:C | acceptor_loss | 1.0000 |
| 11:59806830:TGC:T | acceptor_gain | 0.9900 |
| 11:59806833:C:CC | acceptor_gain | 0.9900 |
| 11:59806834:T:A | acceptor_loss | 0.9900 |
| 11:59806839:G:C | acceptor_gain | 0.9900 |
AlphaMissense
1645 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 11:59806739:A:G | W122R | 0.989 |
| 11:59806739:A:T | W122R | 0.989 |
| 11:59806746:A:C | F119L | 0.984 |
| 11:59806746:A:T | F119L | 0.984 |
| 11:59806748:A:G | F119L | 0.984 |
| 11:59806716:C:A | K129N | 0.983 |
| 11:59806716:C:G | K129N | 0.983 |
| 11:59806786:C:G | R106P | 0.983 |
| 11:59807705:A:T | I89N | 0.979 |
| 11:59807708:G:T | A88E | 0.977 |
| 11:59806744:G:T | A120D | 0.975 |
| 11:59806771:C:G | R111P | 0.975 |
| 11:59806466:A:G | W213R | 0.974 |
| 11:59806466:A:T | W213R | 0.974 |
| 11:59806642:A:T | V154E | 0.974 |
| 11:59806787:G:T | R106S | 0.973 |
| 11:59806543:G:T | A187E | 0.971 |
| 11:59806548:G:C | F185L | 0.968 |
| 11:59806548:G:T | F185L | 0.968 |
| 11:59806550:A:G | F185L | 0.968 |
| 11:59806470:G:C | N211K | 0.967 |
| 11:59806470:G:T | N211K | 0.967 |
| 11:59806831:G:T | A91E | 0.966 |
| 11:59806624:A:T | V160D | 0.965 |
| 11:59807753:C:G | R73P | 0.965 |
| 11:59807705:A:G | I89T | 0.964 |
| 11:59807709:C:G | A88P | 0.964 |
| 11:59807726:A:G | F82S | 0.964 |
| 11:59806630:C:G | R158P | 0.963 |
| 11:59806813:A:G | L97P | 0.962 |
dbSNP variants (sampled 300 via entrez): RS1000040802 (11:59809292 C>T), RS1000207020 (11:59805730 C>A), RS1000661079 (11:59807372 A>G), RS1000730486 (11:59806013 G>A), RS1000948304 (11:59807027 C>T), RS1001936686 (11:59806478 T>C,G), RS1002041672 (11:59812334 T>G), RS1002237202 (11:59809643 C>A), RS1002561490 (11:59807965 G>A), RS1003457207 (11:59806093 A>G), RS1004030231 (11:59807587 G>A,T), RS1004347763 (11:59812455 G>A), RS1004392815 (11:59806118 G>A,T), RS1004709835 (11:59807483 C>G,T), RS1005582911 (11:59812400 G>A)
Disease associations
OMIM: gene MIM:611829 | 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
36 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Acetaminophen | affects cotreatment, decreases expression | 4 |
| sodium arsenite | increases expression, decreases expression | 2 |
| 7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide | decreases expression | 2 |
| Cyclosporine | decreases expression | 2 |
| aristolochic acid I | decreases expression | 1 |
| triphenyl phosphate | affects expression | 1 |
| arsenite | affects binding, increases reaction | 1 |
| tris(1,3-dichloro-2-propyl)phosphate | decreases expression | 1 |
| potassium chromate(VI) | affects cotreatment, decreases expression | 1 |
| epigallocatechin gallate | affects cotreatment, decreases expression | 1 |
| corosolic acid | decreases expression | 1 |
| K 7174 | decreases expression | 1 |
| bisphenol B | increases expression | 1 |
| abrine | decreases expression | 1 |
| Grape Seed Proanthocyanidins | affects cotreatment, decreases expression | 1 |
| NSC 689534 | affects binding, decreases expression | 1 |
| bisphenol AF | increases expression | 1 |
| Resveratrol | affects cotreatment, increases expression | 1 |
| Air Pollutants | decreases expression, increases abundance | 1 |
| Arsenic | affects methylation | 1 |
| Benzo(a)pyrene | increases methylation | 1 |
| Carbamazepine | affects expression | 1 |
| Catechin | affects cotreatment, decreases expression | 1 |
| Copper | affects binding, decreases expression | 1 |
| Dimethyl Sulfoxide | increases expression | 1 |
| Drugs, Chinese Herbal | decreases expression | 1 |
| Lipopolysaccharides | affects cotreatment, decreases expression | 1 |
| Piroxicam | decreases expression | 1 |
| Plant Extracts | affects cotreatment, increases expression | 1 |
| Ribonucleotides | affects binding | 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.