MRPL20
gene geneOn this page
Also known as FLJ10024bL20m
Summary
MRPL20 (mitochondrial ribosomal protein L20, HGNC:14478) is a protein-coding gene on chromosome 1p36.33, encoding Large ribosomal subunit protein bL20m (Q9BYC9). It is a selective cancer dependency (DepMap: 37.6% 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. A pseudogene corresponding to this gene is found on chromosome 21q. Alternative splicing results in multiple transcript variants encoding different isoforms.
Source: NCBI Gene 55052 — RefSeq curated summary.
At a glance
- GWAS associations: 3
- Clinical variants (ClinVar): 46 total
- Cancer dependency (DepMap): dependent in 37.6% of screened cell lines
- MANE Select transcript:
NM_017971
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:14478 |
| Approved symbol | MRPL20 |
| Name | mitochondrial ribosomal protein L20 |
| Location | 1p36.33 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | FLJ10024, bL20m |
| Ensembl gene | ENSG00000242485 |
| Ensembl biotype | protein_coding |
| OMIM | 611833 |
| Entrez | 55052 |
Gene structure
Transcript identifiers
Ensembl transcripts: 13 — 10 protein_coding, 2 protein_coding_CDS_not_defined, 1 retained_intron
ENST00000344843, ENST00000477686, ENST00000482352, ENST00000487659, ENST00000492508, ENST00000493287, ENST00000872275, ENST00000872276, ENST00000872277, ENST00000914256, ENST00000914257, ENST00000914258, ENST00000914259
RefSeq mRNA: 2 — MANE Select: NM_017971
NM_001318485, NM_017971
CCDS: CCDS26
Canonical transcript exons
ENST00000344843 — 4 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001735034 | 1407131 | 1407293 |
| ENSE00001940545 | 1401909 | 1402256 |
| ENSE00003478955 | 1405809 | 1405886 |
| ENSE00003480468 | 1406909 | 1407019 |
Expression profiles
Bgee: expression breadth ubiquitous, 288 present calls, max score 99.61.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 110.6662 / max 489.9961, expressed in 1828 samples.
FANTOM5 promoters (1 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 9781 | 110.6662 | 1828 |
Top tissues by expression
288 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| palpebral conjunctiva | UBERON:0001812 | 99.61 | gold quality |
| epithelium of nasopharynx | UBERON:0001951 | 99.30 | gold quality |
| germinal epithelium of ovary | UBERON:0001304 | 99.28 | gold quality |
| esophagus squamous epithelium | UBERON:0006920 | 99.15 | gold quality |
| cervix squamous epithelium | UBERON:0006922 | 98.98 | gold quality |
| squamous epithelium | UBERON:0006914 | 98.96 | gold quality |
| gingival epithelium | UBERON:0001949 | 98.95 | gold quality |
| epithelium of esophagus | UBERON:0001976 | 98.77 | gold quality |
| skeletal muscle tissue of rectus abdominis | UBERON:0004511 | 98.76 | gold quality |
| gingiva | UBERON:0001828 | 98.57 | gold quality |
| hindlimb stylopod muscle | UBERON:0004252 | 98.55 | gold quality |
| amniotic fluid | UBERON:0000173 | 98.54 | gold quality |
| corpus epididymis | UBERON:0004359 | 98.53 | gold quality |
| mucosa of paranasal sinus | UBERON:0005030 | 98.51 | gold quality |
| skeletal muscle tissue of biceps brachii | UBERON:0004502 | 98.46 | gold quality |
| Brodmann (1909) area 23 | UBERON:0013554 | 98.45 | gold quality |
| parietal pleura | UBERON:0002400 | 98.43 | gold quality |
| endothelial cell | CL:0000115 | 98.41 | gold quality |
| biceps brachii | UBERON:0001507 | 98.38 | gold quality |
| heart right ventricle | UBERON:0002080 | 98.38 | gold quality |
| adult organism | UBERON:0007023 | 98.38 | gold quality |
| oral cavity | UBERON:0000167 | 98.32 | gold quality |
| gastrocnemius | UBERON:0001388 | 98.31 | gold quality |
| pigmented layer of retina | UBERON:0001782 | 98.29 | gold quality |
| muscle of leg | UBERON:0001383 | 98.28 | gold quality |
| vastus lateralis | UBERON:0001379 | 98.27 | gold quality |
| adenohypophysis | UBERON:0002196 | 98.26 | gold quality |
| caput epididymis | UBERON:0004358 | 98.26 | gold quality |
| cardiac ventricle | UBERON:0002082 | 98.23 | gold quality |
| heart left ventricle | UBERON:0002084 | 98.23 | gold quality |
Single-cell (SCXA)
Detected in 1 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | no | 0.00 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
24 targeting MRPL20, 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-548AJ-3P | 99.96 | 73.38 | 5345 |
| HSA-MIR-548X-3P | 99.96 | 73.38 | 5345 |
| HSA-MIR-551B-5P | 99.96 | 71.28 | 3493 |
| HSA-MIR-548J-3P | 99.94 | 72.61 | 4881 |
| HSA-MIR-548AE-3P | 99.93 | 72.66 | 4867 |
| HSA-MIR-548AH-3P | 99.93 | 72.54 | 4872 |
| HSA-MIR-548AM-3P | 99.93 | 72.54 | 4872 |
| HSA-MIR-548AQ-3P | 99.93 | 72.66 | 4867 |
| HSA-MIR-548AR-3P | 99.85 | 71.26 | 3889 |
| HSA-MIR-548AZ-3P | 99.82 | 70.56 | 3549 |
| HSA-MIR-548BC | 99.82 | 70.61 | 3524 |
| HSA-MIR-548E-3P | 99.82 | 70.59 | 3514 |
| HSA-MIR-548F-3P | 99.82 | 70.59 | 3540 |
| HSA-MIR-577 | 99.78 | 69.13 | 2479 |
| HSA-MIR-548A-3P | 99.76 | 70.58 | 3524 |
| HSA-MIR-12130 | 99.75 | 65.47 | 452 |
| HSA-MIR-4802-3P | 99.72 | 70.13 | 1273 |
| HSA-MIR-377-3P | 99.37 | 70.18 | 1905 |
| HSA-MIR-4316 | 99.37 | 65.75 | 1360 |
| HSA-MIR-520F-5P | 99.34 | 70.40 | 1632 |
| HSA-MIR-3940-5P | 99.14 | 65.26 | 493 |
| HSA-MIR-4507 | 99.14 | 65.27 | 515 |
| HSA-MIR-548L | 99.06 | 70.90 | 2560 |
| HSA-MIR-3935 | 96.33 | 66.79 | 797 |
Functional genomics
DepMap (CRISPR cell-line fitness): dependent in 37.6% of screened cell lines.
Cross-species orthologs
5 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | mrpl20 | ENSDARG00000090462 |
| mus_musculus | Mrpl20 | ENSMUSG00000029066 |
| rattus_norvegicus | Mrpl20 | ENSRNOG00000018647 |
| drosophila_melanogaster | mRpL20 | FBGN0036335 |
| caenorhabditis_elegans | WBGENE00012992 |
Protein
Protein identifiers
Large ribosomal subunit protein bL20m — Q9BYC9 (reviewed: Q9BYC9)
Alternative names: 39S ribosomal protein L20, mitochondrial
All UniProt accessions (2): I3L2X1, Q9BYC9
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. Interacts with OXA1L.
Subcellular location. Mitochondrion.
Similarity. Belongs to the bacterial ribosomal protein bL20 family.
Isoforms (2)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q9BYC9-1 | 1 | yes |
| Q9BYC9-2 | 2 |
RefSeq proteins (2): NP_001305414, NP_060441* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR005813 | Ribosomal_bL20 | Family |
| IPR035566 | Ribosomal_protein_bL20_C | Homologous_superfamily |
Pfam: PF00453
UniProt features (12 total): helix 6, turn 2, transit peptide 1, chain 1, strand 1, splice variant 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-Q9BYC9-F1 | 90.90 | 0.80 |
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: 149 (showing top):
PAL_PRMT5_TARGETS_UP, GOBP_MITOCHONDRIAL_TRANSLATION, GOBP_TRANSLATION, GOMF_STRUCTURAL_CONSTITUENT_OF_RIBOSOME, GOCC_MITOCHONDRIAL_ENVELOPE, GARY_CD5_TARGETS_DN, TIEN_INTESTINE_PROBIOTICS_24HR_UP, BURTON_ADIPOGENESIS_5, GRYDER_PAX3FOXO1_ENHANCERS_IN_TADS, MULLIGAN_NTF3_SIGNALING_VIA_INSR_AND_IGF1R_UP, GOCC_LARGE_RIBOSOMAL_SUBUNIT, GOCC_RIBOSOME, GRYDER_PAX3FOXO1_TOP_ENHANCERS, GOCC_ORGANELLAR_RIBOSOME, GOCC_MITOCHONDRIAL_MATRIX
GO Biological Process (2): mitochondrial translation (GO:0032543), translation (GO:0006412)
GO Molecular Function (4): RNA binding (GO:0003723), structural constituent of ribosome (GO:0003735), rRNA binding (GO:0019843), 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 |
| nucleic acid binding | 1 |
| structural molecule activity | 1 |
| ribosome | 1 |
| RNA binding | 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
2897 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| MRPL20 | MRPL51 | Q4U2R6 | 689 |
| MRPL20 | MRPL33 | O75394 | 645 |
| MRPL20 | MTERF3 | Q96E29 | 626 |
| MRPL20 | MRPL24 | Q96A35 | 626 |
| MRPL20 | MRPL47 | Q9HD33 | 619 |
| MRPL20 | MRPL48 | Q96GC5 | 596 |
| MRPL20 | MRPL23 | Q16540 | 587 |
| MRPL20 | MRPL13 | Q9BYD1 | 574 |
| MRPL20 | MRPL12 | P52815 | 573 |
| MRPL20 | NDUFB9 | Q9Y6M9 | 567 |
| MRPL20 | MRPL49 | Q13405 | 559 |
| MRPL20 | MRPL34 | Q9BQ48 | 557 |
| MRPL20 | MRPS7 | Q9Y2R9 | 548 |
| MRPL20 | MRPL41 | Q8IXM3 | 548 |
| MRPL20 | MRPS9 | P82933 | 544 |
IntAct
164 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| MIS12 | ZWINT | psi-mi:“MI:0914”(association) | 0.900 |
| YBX1 | HNRNPR | psi-mi:“MI:0914”(association) | 0.770 |
| MRPS30 | GTPBP10 | psi-mi:“MI:0914”(association) | 0.640 |
| MRPL50 | GTPBP10 | 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 |
| PEX19 | FAM20B | psi-mi:“MI:0914”(association) | 0.530 |
| MRPL41 | MRPL3 | psi-mi:“MI:0914”(association) | 0.530 |
| YBX1 | IGF2BP3 | psi-mi:“MI:0914”(association) | 0.530 |
| MRPL2 | GTPBP10 | psi-mi:“MI:0914”(association) | 0.530 |
| CASQ2 | PES1 | psi-mi:“MI:0914”(association) | 0.530 |
| RHOT2 | UBC | 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 |
| IPO5 | SLC27A2 | psi-mi:“MI:0914”(association) | 0.530 |
| PEX19 | MYO1D | psi-mi:“MI:0914”(association) | 0.530 |
| RPL19 | ZBTB24 | psi-mi:“MI:0914”(association) | 0.530 |
| RPL27A | MRPS9 | psi-mi:“MI:0914”(association) | 0.530 |
| RPL13A | NVL | psi-mi:“MI:0914”(association) | 0.530 |
| PRR3 | MRPS14 | psi-mi:“MI:0914”(association) | 0.530 |
| MRPL27 | MRPL33 | psi-mi:“MI:0914”(association) | 0.530 |
BioGRID (215): MRPL20 (Affinity Capture-MS), MRPL20 (Affinity Capture-MS), MRPL20 (Affinity Capture-MS), MRPL20 (Affinity Capture-MS), MRPL20 (Affinity Capture-MS), MRPL20 (Affinity Capture-MS), MRPL20 (Affinity Capture-MS), MRPL20 (Affinity Capture-MS), MRPL20 (Affinity Capture-MS), MRPL20 (Affinity Capture-MS), MRPL20 (Affinity Capture-MS), MRPL20 (Affinity Capture-MS), MRPL20 (Co-fractionation), MRPL20 (Co-fractionation), MRPL20 (Co-fractionation)
ESM2 similar proteins: A0AJY7, B1VKG7, O60783, P56556, P82915, P82920, P82933, Q02366, Q0MQA3, Q0MQA4, Q0MQA5, Q0VFH6, Q13084, Q19V89, Q1JQ99, Q29IK4, Q2HJJ1, Q2TA12, Q2TBR2, Q3T040, Q3T0J3, Q498T4, Q58DQ5, Q58DV5, Q5I0K8, Q5T653, Q5U4Z8, Q5ZMU0, Q6B860, Q6DDY9, Q6P1L8, Q71YD4, Q7M0E7, Q7SF85, Q7ZUH5, Q80X85, Q8MFA1, Q8Y620, Q92AC7, Q9BYC9
Diamond homologs: A0KWV7, A0L4J9, A1ARE2, A1K4E4, A1RJI6, A1S6G7, A1SWU2, A3D4I5, A3QEJ7, A4G616, A4Y703, A5EZ15, A5VT72, A6SY33, A6WNG9, A7HPK9, A7N012, A8FV59, A8H4U3, A9L2Q6, A9M9V2, B0CJL8, B0TT23, B1KG58, B1XYZ6, B1YP16, B2A5N9, B2J0D0, B2S9B6, B2SZF9, B2UGJ5, B3E1T8, B3PYE1, B3R4J4, B4RSL5, B4UAN7, B5EBY2, B5ZXR9, B6EN31, B6IPJ8
SIGNOR signaling
1 interactions.
| A | Effect | B | Mechanism |
|---|---|---|---|
| MRPL20 | “form complex” | “39S mitochondrial large ribosomal subunit” | binding |
Enriched among interaction partners
Reactome pathways and GO biological processes over-represented among this gene’s 142 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 | 38 | 44.0× | 3e-52 |
| Mitochondrial translation | 32 | 41.5× | 5e-43 |
| Mitochondrial translation initiation | 34 | 40.7× | 2e-45 |
| Mitochondrial translation elongation | 34 | 40.7× | 2e-45 |
| Mitochondrial translation termination | 34 | 35.2× | 5e-43 |
| Translation | 33 | 19.3× | 4e-32 |
| ZNF598 and the Ribosome-associated Quality Trigger (RQT) complex dissociate a ribosome stalled on a no-go mRNA | 10 | 11.1× | 2e-06 |
| Peptide chain elongation | 9 | 10.8× | 8e-06 |
GO biological processes:
| GO term | Partners | Fold | FDR |
|---|---|---|---|
| mitochondrial translation | 36 | 48.1× | 1e-49 |
| mitochondrial large ribosomal subunit assembly | 6 | 45.8× | 5e-07 |
| translation | 28 | 22.1× | 1e-27 |
| cytoplasmic translation | 9 | 12.8× | 5e-06 |
| negative regulation of translation | 7 | 10.6× | 6e-04 |
Disease & clinical
Clinical variants and AI predictions
ClinVar
46 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 37 |
| Likely benign | 2 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
446 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 1:1402252:TGGCA:T | acceptor_gain | 1.0000 |
| 1:1402253:GGCA:G | acceptor_gain | 1.0000 |
| 1:1402254:GCA:G | acceptor_gain | 1.0000 |
| 1:1402255:CAC:C | acceptor_gain | 1.0000 |
| 1:1402257:C:CC | acceptor_gain | 1.0000 |
| 1:1405813:A:C | donor_gain | 1.0000 |
| 1:1406907:ACGGT:A | donor_gain | 1.0000 |
| 1:1406908:CGGTC:C | donor_gain | 1.0000 |
| 1:1407127:TCACC:T | donor_loss | 1.0000 |
| 1:1407128:CA:C | donor_loss | 1.0000 |
| 1:1407129:A:AC | donor_gain | 1.0000 |
| 1:1407129:AC:A | donor_gain | 1.0000 |
| 1:1407129:ACC:A | donor_gain | 1.0000 |
| 1:1407130:C:CT | donor_gain | 1.0000 |
| 1:1407130:CC:C | donor_gain | 1.0000 |
| 1:1407130:CCC:C | donor_gain | 1.0000 |
| 1:1407130:CCCT:C | donor_gain | 1.0000 |
| 1:1407130:CCCTG:C | donor_gain | 1.0000 |
| 1:1407150:T:TA | donor_gain | 1.0000 |
| 1:1402255:CA:C | acceptor_gain | 0.9900 |
| 1:1405841:T:TA | donor_gain | 0.9900 |
| 1:1405882:CAGAG:C | acceptor_gain | 0.9900 |
| 1:1405883:AGAGC:A | acceptor_loss | 0.9900 |
| 1:1405886:GC:G | acceptor_loss | 0.9900 |
| 1:1405887:C:CA | acceptor_loss | 0.9900 |
| 1:1405887:C:CC | acceptor_gain | 0.9900 |
| 1:1406908:CGGT:C | donor_gain | 0.9900 |
| 1:1407016:AGTG:A | acceptor_gain | 0.9900 |
| 1:1407018:TG:T | acceptor_gain | 0.9900 |
| 1:1407020:C:CC | acceptor_gain | 0.9900 |
AlphaMissense
960 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 1:1402194:G:C | F113L | 0.985 |
| 1:1402194:G:T | F113L | 0.985 |
| 1:1402196:A:G | F113L | 0.985 |
| 1:1407014:G:C | F31L | 0.984 |
| 1:1407014:G:T | F31L | 0.984 |
| 1:1407016:A:G | F31L | 0.984 |
| 1:1405857:G:C | S76R | 0.981 |
| 1:1405857:G:T | S76R | 0.981 |
| 1:1405859:T:G | S76R | 0.981 |
| 1:1402216:G:T | A106D | 0.980 |
| 1:1407135:G:T | A28D | 0.972 |
| 1:1402219:A:G | L105P | 0.971 |
| 1:1405861:G:T | A75D | 0.971 |
| 1:1402243:A:T | L97H | 0.970 |
| 1:1405873:C:G | R71P | 0.969 |
| 1:1402186:A:G | L116S | 0.968 |
| 1:1402207:T:A | E109V | 0.968 |
| 1:1402195:A:G | F113S | 0.967 |
| 1:1402217:C:G | A106P | 0.965 |
| 1:1406982:G:T | A42E | 0.965 |
| 1:1402226:C:G | A103P | 0.962 |
| 1:1405816:A:G | L90S | 0.959 |
| 1:1406937:C:G | R57P | 0.958 |
| 1:1405828:A:G | L86P | 0.955 |
| 1:1406993:G:C | C38W | 0.955 |
| 1:1402174:G:T | A120D | 0.948 |
| 1:1406962:C:G | A49P | 0.948 |
| 1:1402184:C:G | A117P | 0.947 |
| 1:1402240:T:A | N98I | 0.947 |
| 1:1402183:G:T | A117D | 0.946 |
dbSNP variants (sampled 300 via entrez): RS1000250273 (1:1407270 T>C), RS1000429563 (1:1403650 A>G), RS1000584590 (1:1406503 C>T), RS1000635236 (1:1406314 C>A,G), RS1000693960 (1:1402447 G>A,C), RS1000759461 (1:1403440 C>T), RS1001086226 (1:1409003 G>A,C), RS1001121972 (1:1409162 G>A), RS1001424518 (1:1408091 G>C), RS1001900382 (1:1407312 C>G), RS1002255236 (1:1405553 C>A,T), RS1002437457 (1:1401741 A>G), RS1002585731 (1:1404683 G>A,C), RS1002944964 (1:1403064 G>A), RS1003145746 (1:1407442 A>C)
Disease associations
OMIM: gene MIM:611833 | 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 |
|---|---|---|
| GCST004131_103 | Inflammatory bowel disease | 2.000000e-07 |
| GCST004133_40 | Ulcerative colitis | 3.000000e-06 |
| GCST007268_75 | Diastolic blood pressure | 2.000000e-08 |
EFO canonical traits (1, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0006336 | diastolic blood pressure |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
34 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| sodium arsenite | decreases expression, increases expression | 2 |
| alpha phellandrene | decreases expression | 1 |
| bisphenol A | decreases expression | 1 |
| arsenite | affects binding, increases reaction | 1 |
| tris(1,3-dichloro-2-propyl)phosphate | decreases expression | 1 |
| cobaltous chloride | decreases expression | 1 |
| di-n-butylphosphoric acid | affects expression | 1 |
| corosolic acid | decreases expression | 1 |
| K 7174 | decreases expression | 1 |
| erucylphospho-N,N,N-trimethylpropylammonium | decreases expression | 1 |
| Grape Seed Proanthocyanidins | affects cotreatment, decreases expression | 1 |
| Resveratrol | increases expression, affects cotreatment | 1 |
| Acetaminophen | decreases expression, affects cotreatment | 1 |
| Atrazine | decreases expression | 1 |
| Benzo(a)pyrene | decreases methylation | 1 |
| Cadmium | increases abundance, increases expression | 1 |
| Catechin | affects cotreatment, decreases expression | 1 |
| Diazinon | increases methylation | 1 |
| Hydrogen Peroxide | affects expression | 1 |
| Lipopolysaccharides | affects cotreatment, decreases expression | 1 |
| Nickel | increases expression | 1 |
| Plant Extracts | affects cotreatment, increases expression | 1 |
| Quercetin | decreases expression | 1 |
| Ribonucleotides | affects binding | 1 |
| Silicon Dioxide | decreases expression | 1 |
| Smoke | decreases expression | 1 |
| Thiram | decreases expression | 1 |
| Tunicamycin | decreases expression | 1 |
| Urethane | decreases expression | 1 |
| Valproic Acid | increases methylation | 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.