MRPL15
gene geneOn this page
Also known as RPML7MRP-L7HSPC145L15mtMRP-L15uL15m
Summary
MRPL15 (mitochondrial ribosomal protein L15, HGNC:14054) is a protein-coding gene on chromosome 8q11.23, encoding Large ribosomal subunit protein uL15m (Q9P015). It is a selective cancer dependency (DepMap: 47.8% 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 that belongs to the EcoL15 ribosomal protein family. A pseudogene corresponding to this gene is found on chromosome 15q.
Source: NCBI Gene 29088 — RefSeq curated summary.
At a glance
- GWAS associations: 1
- Clinical variants (ClinVar): 58 total
- Cancer dependency (DepMap): dependent in 47.8% of screened cell lines
- MANE Select transcript:
NM_014175
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:14054 |
| Approved symbol | MRPL15 |
| Name | mitochondrial ribosomal protein L15 |
| Location | 8q11.23 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | RPML7, MRP-L7, HSPC145, L15mt, MRP-L15, uL15m |
| Ensembl gene | ENSG00000137547 |
| Ensembl biotype | protein_coding |
| OMIM | 611828 |
| Entrez | 29088 |
Gene structure
Transcript identifiers
Ensembl transcripts: 7 — 7 protein_coding
ENST00000260102, ENST00000519831, ENST00000522521, ENST00000867845, ENST00000938846, ENST00000938847, ENST00000938848
RefSeq mRNA: 1 — MANE Select: NM_014175
NM_014175
CCDS: CCDS6158
Canonical transcript exons
ENST00000260102 — 5 exons
| Exon | Start | End |
|---|---|---|
| ENSE00000693950 | 54136511 | 54136665 |
| ENSE00000928386 | 54147382 | 54148514 |
| ENSE00001192002 | 54135241 | 54135391 |
| ENSE00003743315 | 54142663 | 54142786 |
| ENSE00003753157 | 54137268 | 54137433 |
Expression profiles
Bgee: expression breadth ubiquitous, 286 present calls, max score 98.35.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 62.6533 / max 325.4950, expressed in 1822 samples.
FANTOM5 promoters (1 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 88861 | 62.6533 | 1822 |
Top tissues by expression
290 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| heart right ventricle | UBERON:0002080 | 98.35 | gold quality |
| vastus lateralis | UBERON:0001379 | 98.15 | gold quality |
| biceps brachii | UBERON:0001507 | 98.10 | gold quality |
| quadriceps femoris | UBERON:0001377 | 98.04 | gold quality |
| hindlimb stylopod muscle | UBERON:0004252 | 97.97 | gold quality |
| gastrocnemius | UBERON:0001388 | 97.86 | gold quality |
| deltoid | UBERON:0001476 | 97.63 | gold quality |
| skeletal muscle tissue of biceps brachii | UBERON:0004502 | 97.63 | gold quality |
| triceps brachii | UBERON:0001509 | 97.57 | gold quality |
| muscle organ | UBERON:0001630 | 97.56 | gold quality |
| skeletal muscle organ | UBERON:0014892 | 97.56 | gold quality |
| heart left ventricle | UBERON:0002084 | 97.52 | gold quality |
| primordial germ cell in gonad | CL:0000670 ∩ UBERON:0000991 | 97.51 | gold quality |
| cardiac ventricle | UBERON:0002082 | 97.48 | gold quality |
| skeletal muscle tissue | UBERON:0001134 | 97.46 | gold quality |
| muscle of leg | UBERON:0001383 | 97.46 | gold quality |
| skeletal muscle tissue of rectus abdominis | UBERON:0004511 | 97.17 | gold quality |
| right atrium auricular region | UBERON:0006631 | 97.08 | gold quality |
| body of tongue | UBERON:0011876 | 96.99 | gold quality |
| cardiac atrium | UBERON:0002081 | 96.95 | gold quality |
| myocardium | UBERON:0002349 | 96.94 | gold quality |
| apex of heart | UBERON:0002098 | 96.86 | gold quality |
| muscle tissue | UBERON:0002385 | 96.84 | gold quality |
| diaphragm | UBERON:0001103 | 96.83 | gold quality |
| rectum | UBERON:0001052 | 96.73 | gold quality |
| heart | UBERON:0000948 | 96.67 | gold quality |
| left ventricle myocardium | UBERON:0006566 | 96.49 | gold quality |
| tibialis anterior | UBERON:0001385 | 96.30 | gold quality |
| mucosa of transverse colon | UBERON:0004991 | 95.94 | gold quality |
| cardiac muscle of right atrium | UBERON:0003379 | 95.30 | gold quality |
Single-cell (SCXA)
Detected in 2 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-CURD-112 | no | 3.76 |
| E-ANND-3 | no | 0.00 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
41 targeting MRPL15, 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-6833-3P | 100.00 | 70.63 | 3197 |
| HSA-MIR-4768-5P | 100.00 | 69.49 | 2861 |
| HSA-MIR-4775 | 99.98 | 75.00 | 6394 |
| HSA-MIR-23B-5P | 99.98 | 66.07 | 587 |
| HSA-MIR-590-3P | 99.96 | 74.34 | 6478 |
| HSA-MIR-651-3P | 99.94 | 73.48 | 5177 |
| HSA-MIR-23A-5P | 99.94 | 65.39 | 468 |
| HSA-MIR-141-3P | 99.94 | 72.79 | 2421 |
| HSA-MIR-200A-3P | 99.94 | 72.68 | 2420 |
| HSA-MIR-6809-3P | 99.91 | 71.45 | 3814 |
| HSA-MIR-3919 | 99.87 | 69.45 | 2489 |
| HSA-MIR-579-3P | 99.86 | 71.66 | 3628 |
| HSA-MIR-664B-3P | 99.84 | 71.65 | 3590 |
| HSA-MIR-4420 | 99.82 | 70.08 | 1624 |
| HSA-MIR-181B-2-3P | 99.81 | 70.06 | 1646 |
| HSA-MIR-181B-3P | 99.81 | 70.06 | 1646 |
| HSA-MIR-1299 | 99.77 | 71.24 | 2389 |
| HSA-MIR-4524A-3P | 99.72 | 66.85 | 2406 |
| HSA-MIR-4470 | 99.66 | 69.35 | 1767 |
| HSA-MIR-875-3P | 99.63 | 69.47 | 2548 |
| HSA-MIR-6757-3P | 99.63 | 66.88 | 1089 |
| HSA-MIR-1252-3P | 99.55 | 67.71 | 2862 |
| HSA-MIR-6727-3P | 99.49 | 65.92 | 1333 |
| HSA-MIR-4441 | 99.49 | 66.56 | 3216 |
| HSA-MIR-4722-3P | 99.35 | 65.22 | 1099 |
| HSA-MIR-6505-3P | 99.34 | 67.39 | 1071 |
| HSA-MIR-140-3P | 99.04 | 67.69 | 1324 |
| HSA-MIR-4270 | 99.02 | 66.26 | 1987 |
| HSA-MIR-194-5P | 99.01 | 69.65 | 1465 |
| HSA-MIR-6754-5P | 98.60 | 65.54 | 1627 |
Functional genomics
DepMap (CRISPR cell-line fitness): dependent in 47.8% of screened cell lines.
Literature-anchored findings (GeneRIF, showing 2)
- MRPL15 is a novel prognostic biomarker and therapeutic target for epithelial ovarian cancer. (PMID:33934540)
- Methylation factor MRPL15 identified as a potential biological target in Alzheimer’s disease. (PMID:34016794)
Cross-species orthologs
5 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | mrpl15 | ENSDARG00000101306 |
| mus_musculus | Mrpl15 | ENSMUSG00000033845 |
| rattus_norvegicus | Mrpl15 | ENSRNOG00000008566 |
| drosophila_melanogaster | mRpL15 | FBGN0036990 |
| caenorhabditis_elegans | mrpl-15 | WBGENE00022373 |
Protein
Protein identifiers
Large ribosomal subunit protein uL15m — Q9P015 (reviewed: Q9P015)
Alternative names: 39S ribosomal protein L15, mitochondrial
All UniProt accessions (3): Q9P015, E5RHF4, E5RIZ4
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 uL15 family.
RefSeq proteins (1): NP_054894* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR005749 | Ribosomal_uL15_bact | Family |
| IPR021131 | Ribosomal_uL15/eL18 | Domain |
| IPR030878 | Ribosomal_uL15 | Family |
| IPR036227 | Ribosomal_uL15/eL18_sf | Homologous_superfamily |
Pfam: PF00828
UniProt features (43 total): helix 17, strand 12, turn 8, sequence conflict 2, transit peptide 1, chain 1, region of interest 1, compositionally biased region 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-Q9P015-F1 | 91.15 | 0.75 |
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: 178 (showing top):
GSE18804_BRAIN_VS_COLON_TUMORAL_MACROPHAGE_DN, GSE18804_SPLEEN_MACROPHAGE_VS_TUMORAL_MACROPHAGE_DN, GSE45365_CTRL_VS_MCMV_INFECTION_NK_CELL_DN, GOBP_RESPONSE_TO_PEPTIDE, STARK_PREFRONTAL_CORTEX_22Q11_DELETION_DN, GRAESSMANN_APOPTOSIS_BY_DOXORUBICIN_DN, GOBP_MITOCHONDRIAL_TRANSLATION, MONNIER_POSTRADIATION_TUMOR_ESCAPE_UP, GOBP_TRANSLATION, WEI_MYCN_TARGETS_WITH_E_BOX, ONKEN_UVEAL_MELANOMA_UP, GOMF_STRUCTURAL_CONSTITUENT_OF_RIBOSOME, HESS_TARGETS_OF_HOXA9_AND_MEIS1_UP, GOCC_MITOCHONDRIAL_ENVELOPE, GARY_CD5_TARGETS_DN
GO Biological Process (3): mitochondrial translation (GO:0032543), cellular response to leukemia inhibitory factor (GO:1990830), translation (GO:0006412)
GO Molecular Function (3): RNA binding (GO:0003723), structural constituent of ribosome (GO:0003735), protein binding (GO:0005515)
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 |
| cellular response to cytokine stimulus | 1 |
| response to leukemia inhibitory factor | 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 |
| 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
3097 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| MRPL15 | RPL15 | P39030 | 531 |
| MRPL15 | NEURL1B | A8MQ27 | 487 |
| MRPL15 | PMPCB | O75439 | 480 |
| MRPL15 | RITA1 | Q96K30 | 470 |
| MRPL15 | MRPL16 | Q9NX20 | 462 |
| MRPL15 | GSAP | A4D1B5 | 455 |
| MRPL15 | MRPL2 | Q5T653 | 443 |
| MRPL15 | RPL7L1 | Q6DKI1 | 442 |
| MRPL15 | MRPL9 | Q9BYD2 | 432 |
| MRPL15 | PCMT1 | P22061 | 427 |
| MRPL15 | THOC7 | Q6I9Y2 | 394 |
| MRPL15 | ATP6V1H | Q9UI12 | 374 |
| MRPL15 | MRPS16 | Q9Y3D3 | 364 |
| MRPL15 | HYPK | Q9NX55 | 360 |
| MRPL15 | MRPS2 | Q9Y399 | 359 |
IntAct
185 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| MRPL15 | CCNDBP1 | psi-mi:“MI:0915”(physical association) | 0.780 |
| CCNDBP1 | MRPL15 | psi-mi:“MI:0915”(physical association) | 0.780 |
| YBX1 | HNRNPR | psi-mi:“MI:0914”(association) | 0.770 |
| MRPS30 | GTPBP10 | psi-mi:“MI:0914”(association) | 0.640 |
| LIN28A | IGF2BP3 | psi-mi:“MI:0914”(association) | 0.640 |
| MRPL15 | RUNDC3A | psi-mi:“MI:0915”(physical association) | 0.560 |
| RUNDC3A | MRPL15 | psi-mi:“MI:0915”(physical association) | 0.560 |
| SNRPA | MRPL15 | psi-mi:“MI:0915”(physical association) | 0.560 |
| U2AF2 | MRPL15 | psi-mi:“MI:0915”(physical association) | 0.560 |
| TEFM | POLRMT | psi-mi:“MI:0914”(association) | 0.560 |
| Zfp36 | CNOT1 | psi-mi:“MI:0914”(association) | 0.560 |
| NP | KPNA6 | psi-mi:“MI:0914”(association) | 0.550 |
| 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 |
| MRPL2 | GTPBP10 | psi-mi:“MI:0914”(association) | 0.530 |
| IGF2BP3 | 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 |
BioGRID (280): MRPL15 (Two-hybrid), MRPL15 (Two-hybrid), MRPL15 (Affinity Capture-RNA), MRPL15 (Affinity Capture-RNA), MRPL15 (Affinity Capture-MS), MRPL15 (Affinity Capture-MS), MRPL15 (Affinity Capture-MS), MRPL15 (Affinity Capture-MS), MRPL15 (Affinity Capture-MS), MRPL15 (Affinity Capture-MS), MRPL15 (Affinity Capture-MS), MRPL15 (Affinity Capture-MS), MRPL15 (Affinity Capture-MS), MRPL15 (Affinity Capture-MS), MRPL15 (Affinity Capture-MS)
ESM2 similar proteins: A0A1D8PFV1, G1SVW5, G1TVS8, O02056, O15594, O65729, P02385, P05426, P08429, P09180, P09897, P0DJ55, P10664, P14148, P18124, P19253, P35427, P35679, P36578, P40429, P42791, P49165, P49626, P49669, P49691, P50878, Q0VC21, Q28346, Q3SZ90, Q4PM04, Q4R506, Q4R5P9, Q4R8Z2, Q54Z69, Q58DT1, Q58DW0, Q5R9R4, Q5RA38, Q5RCR3, Q5ZJ56
Diamond homologs: A0M579, A0PXW5, A1B047, A1USR3, A3PGN0, A4IJK7, A4WVI9, A4YSL1, A5ELK8, A5FN02, A5FZU6, A5V5Y3, A5VQY7, A6GZ80, A6U878, A6X0D7, A7HWT0, A7IPQ1, A8LM76, A9H3K5, A9IW02, A9KJH5, A9M5N1, A9VP96, A9W4S1, B0CH13, B0T2E1, B0UHV0, B1LWQ7, B1Z774, B2IK81, B2S660, B3PWU0, B3QBW1, B3QR90, B4R8N6, B5ZYV4, B6IRS5, B6JEY4, B7GJ86
SIGNOR signaling
1 interactions.
| A | Effect | B | Mechanism |
|---|---|---|---|
| MRPL15 | “form complex” | “39S mitochondrial large ribosomal subunit” | binding |
Enriched among interaction partners
Reactome pathways and GO biological processes over-represented among this gene’s 158 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 | 39 | 42.8× | 2e-53 |
| Mitochondrial translation | 34 | 41.8× | 3e-46 |
| Mitochondrial translation initiation | 36 | 40.8× | 1e-48 |
| Mitochondrial translation elongation | 36 | 40.8× | 1e-48 |
| Mitochondrial translation termination | 36 | 35.3× | 5e-46 |
| Translation | 36 | 19.9× | 5e-36 |
| Transport of Mature Transcript to Cytoplasm | 5 | 17.0× | 1e-04 |
| Peptide chain elongation | 10 | 11.3× | 4e-07 |
GO biological processes:
| GO term | Partners | Fold | FDR |
|---|---|---|---|
| mitochondrial translation | 39 | 48.4× | 2e-54 |
| translation | 30 | 22.0× | 1e-29 |
| cytoplasmic translation | 10 | 13.2× | 8e-07 |
| negative regulation of translation | 8 | 11.2× | 9e-05 |
| regulation of alternative mRNA splicing, via spliceosome | 6 | 10.5× | 2e-03 |
| mRNA processing | 11 | 6.2× | 2e-04 |
Disease & clinical
Clinical variants and AI predictions
ClinVar
58 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 50 |
| Likely benign | 2 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
470 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 8:54135391:GGTAA:G | donor_loss | 1.0000 |
| 8:54135392:G:GA | donor_loss | 1.0000 |
| 8:54135392:G:GG | donor_gain | 1.0000 |
| 8:54135393:T:A | donor_loss | 1.0000 |
| 8:54136506:T:TA | acceptor_gain | 1.0000 |
| 8:54136508:CAGG:C | acceptor_gain | 1.0000 |
| 8:54136509:A:AG | acceptor_gain | 1.0000 |
| 8:54136509:A:C | acceptor_loss | 1.0000 |
| 8:54136509:AG:A | acceptor_gain | 1.0000 |
| 8:54136509:AGGA:A | acceptor_gain | 1.0000 |
| 8:54136510:G:GA | acceptor_gain | 1.0000 |
| 8:54136510:GG:G | acceptor_gain | 1.0000 |
| 8:54136510:GGA:G | acceptor_gain | 1.0000 |
| 8:54136510:GGAG:G | acceptor_gain | 1.0000 |
| 8:54136510:GGAGA:G | acceptor_gain | 1.0000 |
| 8:54136659:GACA:G | donor_gain | 1.0000 |
| 8:54136665:GGTAA:G | donor_loss | 1.0000 |
| 8:54136666:G:GA | donor_loss | 1.0000 |
| 8:54136666:G:GG | donor_gain | 1.0000 |
| 8:54137266:A:AG | acceptor_gain | 1.0000 |
| 8:54137267:G:GA | acceptor_gain | 1.0000 |
| 8:54137267:GTTTC:G | acceptor_gain | 1.0000 |
| 8:54137430:GGAG:G | donor_gain | 1.0000 |
| 8:54137431:GAGG:G | donor_gain | 1.0000 |
| 8:54137431:GAGGT:G | donor_loss | 1.0000 |
| 8:54137433:GGTA:G | donor_loss | 1.0000 |
| 8:54137434:G:T | donor_loss | 1.0000 |
| 8:54137435:T:G | donor_loss | 1.0000 |
| 8:54142661:AG:A | acceptor_gain | 1.0000 |
| 8:54142662:GG:G | acceptor_gain | 1.0000 |
AlphaMissense
1907 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 8:54136601:T:C | F67L | 0.995 |
| 8:54136603:T:A | F67L | 0.995 |
| 8:54136603:T:G | F67L | 0.995 |
| 8:54142780:A:C | S183R | 0.994 |
| 8:54142782:T:A | S183R | 0.994 |
| 8:54142782:T:G | S183R | 0.994 |
| 8:54147487:G:C | R220P | 0.994 |
| 8:54142754:T:A | V174D | 0.993 |
| 8:54137423:T:A | L140Q | 0.992 |
| 8:54147486:C:A | R220S | 0.992 |
| 8:54147490:G:A | G221E | 0.992 |
| 8:54137330:G:C | R109P | 0.990 |
| 8:54137417:T:A | V138D | 0.990 |
| 8:54142694:T:A | I154N | 0.990 |
| 8:54137297:T:A | L98H | 0.989 |
| 8:54142700:T:A | V156E | 0.989 |
| 8:54147643:G:A | G272E | 0.989 |
| 8:54147645:T:A | W273R | 0.989 |
| 8:54147645:T:C | W273R | 0.989 |
| 8:54137423:T:G | L140R | 0.988 |
| 8:54137306:T:A | L101Q | 0.987 |
| 8:54137315:T:C | L104P | 0.987 |
| 8:54137414:G:A | G137D | 0.987 |
| 8:54142676:T:C | F148S | 0.987 |
| 8:54142765:T:C | F178L | 0.987 |
| 8:54142767:C:A | F178L | 0.987 |
| 8:54142767:C:G | F178L | 0.987 |
| 8:54136649:T:C | F83L | 0.986 |
| 8:54136651:T:A | F83L | 0.986 |
| 8:54136651:T:G | F83L | 0.986 |
dbSNP variants (sampled 300 via entrez): RS1000272980 (8:54146819 T>C), RS1000347964 (8:54148492 G>A), RS1000376196 (8:54134601 A>G), RS1000409496 (8:54141571 G>A), RS1000425801 (8:54141233 T>C), RS1000597306 (8:54146698 T>A,C), RS1000667305 (8:54148220 G>A), RS1000707102 (8:54142338 T>C), RS1000752747 (8:54140221 G>A,C,T), RS1000885369 (8:54133271 C>T), RS1001094808 (8:54147015 C>T), RS1001205344 (8:54135697 G>C), RS1001419227 (8:54139610 A>G), RS1001477347 (8:54148901 C>T), RS1001804762 (8:54147425 C>A,G,T)
Disease associations
OMIM: gene MIM:611828 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
1 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST011741_56 | LDL cholesterol levels in HIV infection | 7.000000e-06 |
EFO canonical traits (1, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0004611 | low density lipoprotein cholesterol measurement |
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 |
|---|---|---|
| Valproic Acid | affects cotreatment, increases expression, decreases expression | 4 |
| sodium arsenite | decreases expression, affects cotreatment, increases abundance, increases expression | 3 |
| Acetaminophen | decreases expression | 3 |
| Cadmium Chloride | decreases expression, increases abundance, increases expression | 3 |
| Tretinoin | decreases expression | 2 |
| dicrotophos | decreases expression | 1 |
| bisphenol A | increases expression | 1 |
| trichostatin A | affects expression | 1 |
| manganese chloride | increases abundance, increases expression, affects cotreatment | 1 |
| gossypol acetic acid | decreases expression | 1 |
| di-n-butylphosphoric acid | affects expression | 1 |
| perfluorooctane sulfonic acid | increases expression | 1 |
| 2,3,5-(triglutathion-S-yl)hydroquinone | increases ADP-ribosylation | 1 |
| 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide | affects cotreatment, increases expression | 1 |
| ICG 001 | decreases expression | 1 |
| dorsomorphin | affects cotreatment, increases expression | 1 |
| bisphenol S | affects expression | 1 |
| (+)-JQ1 compound | decreases expression | 1 |
| bisphenol AF | increases expression | 1 |
| Resveratrol | affects cotreatment, increases expression | 1 |
| Air Pollutants | increases abundance, decreases expression | 1 |
| Arsenic | affects cotreatment, increases abundance, increases expression | 1 |
| Atrazine | decreases expression | 1 |
| Benzo(a)pyrene | decreases methylation | 1 |
| Cadmium | increases expression, increases abundance | 1 |
| Dichlorodiphenyl Dichloroethylene | increases expression | 1 |
| Ivermectin | decreases expression | 1 |
| Lead | affects expression | 1 |
| Manganese | increases abundance, increases expression, affects cotreatment | 1 |
| Plant Extracts | affects cotreatment, 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.