RSL24D1
gene geneOn this page
Also known as HRP-L30-isoL30RPL24LRPL24
Summary
RSL24D1 (ribosomal L24 domain containing 1, HGNC:18479) is a protein-coding gene on chromosome 15q21.3, encoding Probable ribosome biogenesis protein RLP24 (Q9UHA3). Involved in the biogenesis of the 60S ribosomal subunit. It is a common-essential gene (DepMap: required in 100.0% of cancer cell lines).
This gene encodes a protein sharing a low level of sequence similarity with human ribosomal protein L24. Although this gene has been referred to as RPL24, L30, and 60S ribosomal protein L30 isolog in the sequence databases, it is distinct from the human genes officially named RPL24 (which itself has been referred to as ribosomal protein L30) and RPL30. The protein encoded by this gene localizes to the nucleolus and is thought to play a role in the biogenesis of the 60S ribosomal subunit. The precise function of this gene is currently unknown. This gene utilizes alternative polyadenylation signals and has multiple pseudogenes.
Source: NCBI Gene 51187 — RefSeq curated summary.
At a glance
- GWAS associations: 3
- Clinical variants (ClinVar): 19 total
- Cancer dependency (DepMap): dependent in 100.0% of screened cell lines (common-essential)
- MANE Select transcript:
NM_016304
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:18479 |
| Approved symbol | RSL24D1 |
| Name | ribosomal L24 domain containing 1 |
| Location | 15q21.3 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | HRP-L30-iso, L30, RPL24L, RPL24 |
| Ensembl gene | ENSG00000137876 |
| Ensembl biotype | protein_coding |
| OMIM | 613262 |
| Entrez | 51187 |
Gene structure
Transcript identifiers
Ensembl transcripts: 13 — 8 protein_coding, 2 protein_coding_CDS_not_defined, 2 retained_intron, 1 nonsense_mediated_decay
ENST00000260443, ENST00000562895, ENST00000562993, ENST00000564344, ENST00000565854, ENST00000569386, ENST00000677092, ENST00000677147, ENST00000677172, ENST00000677267, ENST00000677730, ENST00000677989, ENST00000932316
RefSeq mRNA: 1 — MANE Select: NM_016304
NM_016304
CCDS: CCDS10152
Canonical transcript exons
ENST00000260443 — 6 exons
| Exon | Start | End |
|---|---|---|
| ENSE00000884822 | 55196810 | 55196941 |
| ENSE00001164025 | 55180806 | 55182225 |
| ENSE00003529911 | 55192720 | 55192833 |
| ENSE00003530949 | 55183315 | 55183400 |
| ENSE00003626593 | 55190975 | 55191047 |
| ENSE00003657880 | 55185362 | 55185425 |
Expression profiles
Bgee: expression breadth ubiquitous, 295 present calls, max score 99.20.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 104.9187 / max 1506.8661, expressed in 1822 samples.
FANTOM5 promoters (2 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 150066 | 104.8285 | 1822 |
| 150065 | 0.0902 | 26 |
Top tissues by expression
295 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| germinal epithelium of ovary | UBERON:0001304 | 99.20 | gold quality |
| calcaneal tendon | UBERON:0003701 | 98.76 | gold quality |
| parietal pleura | UBERON:0002400 | 98.67 | gold quality |
| cartilage tissue | UBERON:0002418 | 98.66 | gold quality |
| cortical plate | UBERON:0005343 | 98.64 | gold quality |
| tibia | UBERON:0000979 | 98.60 | gold quality |
| ganglionic eminence | UBERON:0004023 | 98.59 | gold quality |
| amniotic fluid | UBERON:0000173 | 98.56 | gold quality |
| ventricular zone | UBERON:0003053 | 98.40 | gold quality |
| epithelium of nasopharynx | UBERON:0001951 | 98.35 | gold quality |
| nasopharynx | UBERON:0001728 | 98.33 | gold quality |
| pleura | UBERON:0000977 | 98.32 | gold quality |
| cauda epididymis | UBERON:0004360 | 98.32 | gold quality |
| secondary oocyte | CL:0000655 | 98.29 | gold quality |
| monocyte | CL:0000576 | 98.19 | gold quality |
| mononuclear cell | CL:0000842 | 98.15 | gold quality |
| embryo | UBERON:0000922 | 98.15 | gold quality |
| superficial temporal artery | UBERON:0001614 | 98.07 | gold quality |
| caput epididymis | UBERON:0004358 | 98.06 | gold quality |
| ovary | UBERON:0000992 | 98.05 | gold quality |
| left ovary | UBERON:0002119 | 98.03 | gold quality |
| leukocyte | CL:0000738 | 98.02 | gold quality |
| penis | UBERON:0000989 | 97.98 | gold quality |
| visceral pleura | UBERON:0002401 | 97.98 | gold quality |
| corpus epididymis | UBERON:0004359 | 97.96 | gold quality |
| bone marrow | UBERON:0002371 | 97.90 | gold quality |
| gingival epithelium | UBERON:0001949 | 97.84 | gold quality |
| islet of Langerhans | UBERON:0000006 | 97.82 | gold quality |
| tendon | UBERON:0000043 | 97.78 | gold quality |
| bone element | UBERON:0001474 | 97.77 | gold quality |
Single-cell (SCXA)
Detected in 6 experiment(s), a significant marker in 2.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-MTAB-10042 | yes | 5.53 |
| E-MTAB-7606 | no | 402.51 |
| E-MTAB-9689 | no | 340.78 |
| E-GEOD-124858 | no | 231.22 |
| E-HCAD-4 | no | 23.70 |
| E-ANND-3 | no | 0.00 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
49 targeting RSL24D1, 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-4673 | 100.00 | 66.64 | 1490 |
| HSA-MIR-3924 | 100.00 | 72.09 | 2394 |
| HSA-MIR-5692A | 100.00 | 74.40 | 6850 |
| HSA-LET-7B-3P | 100.00 | 74.08 | 3913 |
| HSA-LET-7F-1-3P | 100.00 | 74.02 | 3928 |
| HSA-MIR-186-5P | 99.99 | 70.83 | 3707 |
| HSA-MIR-4645-5P | 99.98 | 65.81 | 1284 |
| HSA-MIR-433-3P | 99.98 | 69.37 | 1203 |
| HSA-MIR-5696 | 99.98 | 72.36 | 4487 |
| HSA-MIR-607 | 99.97 | 73.62 | 5593 |
| HSA-MIR-493-5P | 99.96 | 72.47 | 2382 |
| HSA-LET-7C-3P | 99.95 | 73.42 | 2862 |
| HSA-MIR-141-3P | 99.94 | 72.79 | 2421 |
| HSA-MIR-200A-3P | 99.94 | 72.68 | 2420 |
| HSA-MIR-515-5P | 99.92 | 69.82 | 2343 |
| HSA-MIR-519E-5P | 99.92 | 69.62 | 2358 |
| HSA-MIR-4495 | 99.82 | 72.08 | 3080 |
| HSA-MIR-8084 | 99.73 | 69.57 | 1760 |
| HSA-MIR-545-5P | 99.66 | 70.18 | 2308 |
| HSA-MIR-497-3P | 99.61 | 69.71 | 1990 |
| HSA-MIR-105-5P | 99.54 | 69.24 | 2060 |
| HSA-MIR-7853-5P | 99.54 | 69.30 | 2055 |
| HSA-MIR-519D-5P | 99.41 | 69.30 | 2057 |
| HSA-MIR-5695 | 99.41 | 67.48 | 1047 |
| HSA-MIR-5697 | 99.39 | 67.74 | 1249 |
| HSA-MIR-584-3P | 99.35 | 67.69 | 1082 |
| HSA-MIR-4777-5P | 99.33 | 67.53 | 1148 |
| HSA-MIR-1286 | 99.09 | 66.23 | 1046 |
| HSA-MIR-511-5P | 98.97 | 70.94 | 2268 |
| HSA-MIR-224-3P | 98.91 | 68.42 | 1815 |
Functional genomics
DepMap (CRISPR cell-line fitness): dependent in 100.0% of screened cell lines, common-essential.
Literature-anchored findings (GeneRIF, showing 1)
- RSL24D1 sustains steady-state ribosome biogenesis and pluripotency translational programs in embryonic stem cells. (PMID:36690642)
Cross-species orthologs
5 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | rsl24d1 | ENSDARG00000040439 |
| mus_musculus | Rsl24d1 | ENSMUSG00000032215 |
| rattus_norvegicus | Rsl24d1 | ENSRNOG00000052787 |
| drosophila_melanogaster | RpL24-like | FBGN0037899 |
| caenorhabditis_elegans | rpl-24.2 | WBGENE00004437 |
Paralogs (1): RPL24 (ENSG00000114391)
Protein
Protein identifiers
Probable ribosome biogenesis protein RLP24 — Q9UHA3 (reviewed: Q9UHA3)
Alternative names: Ribosomal L24 domain-containing protein 1, Ribosomal protein L24-like
All UniProt accessions (6): Q9UHA3, A0A7I2V2C6, A0A7I2V359, A0A7I2V3F2, H3BMQ2, H3BPF2
UniProt curated annotations — full annotation on UniProt →
Function. Involved in the biogenesis of the 60S ribosomal subunit. Ensures the docking of GTPBP4/NOG1 to pre-60S particles.
Subunit / interactions. Associated with nucleolar and cytoplasmic pre-60S particles. At the end of biogenesis it dissociates from cytoplasmic pre-60S particles and is likely to be exchanged for its ribosomal homolog, RPL24.
Subcellular location. Nucleus. Nucleolus.
Similarity. Belongs to the eukaryotic ribosomal protein eL24 family.
RefSeq proteins (1): NP_057388* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR000988 | Ribosomal_eL24-rel_N | Domain |
| IPR011017 | TRASH_dom | Domain |
| IPR023442 | Ribosomal_eL24_CS | Conserved_site |
| IPR038630 | L24e/L24_sf | Homologous_superfamily |
| IPR055345 | Ribosomal_eL24-like_arc | Family |
| IPR056366 | Ribosomal_eL24 | Family |
Pfam: PF01246
UniProt features (6 total): sequence conflict 5, chain 1
Structure
Experimental structures (PDB)
39 structures, top 30 by resolution.
| PDB | Method | Resolution (Å) |
|---|---|---|
| 8FKV | ELECTRON MICROSCOPY | 2.47 |
| 8FLE | ELECTRON MICROSCOPY | 2.48 |
| 8FKW | ELECTRON MICROSCOPY | 2.5 |
| 8FL3 | ELECTRON MICROSCOPY | 2.53 |
| 8FL7 | ELECTRON MICROSCOPY | 2.55 |
| 8FLB | ELECTRON MICROSCOPY | 2.55 |
| 8FLD | ELECTRON MICROSCOPY | 2.58 |
| 8FKX | ELECTRON MICROSCOPY | 2.59 |
| 8FL6 | ELECTRON MICROSCOPY | 2.62 |
| 8FLA | ELECTRON MICROSCOPY | 2.63 |
| 8FLF | ELECTRON MICROSCOPY | 2.65 |
| 8FKY | ELECTRON MICROSCOPY | 2.67 |
| 8FL2 | ELECTRON MICROSCOPY | 2.67 |
| 8FL9 | ELECTRON MICROSCOPY | 2.75 |
| 8FKQ | ELECTRON MICROSCOPY | 2.76 |
| 8FLC | ELECTRON MICROSCOPY | 2.76 |
| 8IDT | ELECTRON MICROSCOPY | 2.8 |
| 8FKT | ELECTRON MICROSCOPY | 2.81 |
| 8FKU | ELECTRON MICROSCOPY | 2.82 |
| 8RL2 | ELECTRON MICROSCOPY | 2.84 |
| 8FKP | ELECTRON MICROSCOPY | 2.85 |
| 8FKS | ELECTRON MICROSCOPY | 2.88 |
| 8FKR | ELECTRON MICROSCOPY | 2.89 |
| 8FL4 | ELECTRON MICROSCOPY | 2.89 |
| 8FL0 | ELECTRON MICROSCOPY | 2.91 |
| 8IDY | ELECTRON MICROSCOPY | 3 |
| 8INF | ELECTRON MICROSCOPY | 3 |
| 8FKZ | ELECTRON MICROSCOPY | 3.04 |
| 9QIW | ELECTRON MICROSCOPY | 3.04 |
| 6LU8 | ELECTRON MICROSCOPY | 3.13 |
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q9UHA3-F1 | 91.63 | 0.80 |
Function
Pathways and Gene Ontology
Reactome pathways
0 pathways
MSigDB gene sets: 418 (showing top):
GOBP_CYTOPLASMIC_TRANSLATION, GOBP_RIBOSOME_BIOGENESIS, MODULE_151, GOBP_RETINAL_GANGLION_CELL_AXON_GUIDANCE, MORF_UBE2I, GOBP_CELL_CYCLE_PHASE_TRANSITION, GOBP_STRIATED_MUSCLE_CELL_DIFFERENTIATION, HSIAO_HOUSEKEEPING_GENES, LINDGREN_BLADDER_CANCER_CLUSTER_3_DN, GOBP_RIBOSOME_ASSEMBLY, GOBP_NEUROGENESIS, GOBP_MALE_GAMETE_GENERATION, GOBP_CRANIAL_NERVE_DEVELOPMENT, GOBP_NEGATIVE_REGULATION_OF_CELLULAR_COMPONENT_ORGANIZATION, GOBP_TRANSLATION
GO Biological Process (2): ribosomal large subunit biogenesis (GO:0042273), ribosome biogenesis (GO:0042254)
GO Molecular Function (2): structural constituent of ribosome (GO:0003735), protein binding (GO:0005515)
GO Cellular Component (3): nucleoplasm (GO:0005654), nucleolus (GO:0005730), nucleus (GO:0005634)
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| ribonucleoprotein complex biogenesis | 2 |
| nuclear lumen | 2 |
| ribosome biogenesis | 1 |
| structural molecule activity | 1 |
| ribosome | 1 |
| binding | 1 |
| cellular anatomical structure | 1 |
| intracellular membraneless organelle | 1 |
| intracellular membrane-bounded organelle | 1 |
Protein interactions and networks
STRING
3001 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| RSL24D1 | GTPBP4 | Q9BZE4 | 941 |
| RSL24D1 | NSA2 | O95478 | 904 |
| RSL24D1 | WDR12 | Q9GZL7 | 865 |
| RSL24D1 | MRTO4 | Q9UKD2 | 848 |
| RSL24D1 | GNL2 | Q13823 | 843 |
| RSL24D1 | NMD3 | Q96D46 | 843 |
| RSL24D1 | PAK1IP1 | Q9NWT1 | 841 |
| RSL24D1 | NIP7 | Q9Y221 | 825 |
| RSL24D1 | RPF2 | Q9H7B2 | 810 |
| RSL24D1 | NOP2 | P46087 | 776 |
| RSL24D1 | LSG1 | Q9H089 | 775 |
| RSL24D1 | WDR74 | Q6RFH5 | 744 |
| RSL24D1 | MDN1 | Q9NU22 | 700 |
| RSL24D1 | EBNA1BP2 | Q99848 | 687 |
| RSL24D1 | NOP53 | Q9NZM5 | 665 |
IntAct
102 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| RSL24D1 | DNMT3L | psi-mi:“MI:0915”(physical association) | 0.780 |
| DNMT3L | RSL24D1 | psi-mi:“MI:0915”(physical association) | 0.780 |
| LIN28A | IGF2BP3 | psi-mi:“MI:0914”(association) | 0.640 |
| NPM1 | MPHOSPH10 | psi-mi:“MI:0914”(association) | 0.610 |
| RSL24D1 | FAM9B | psi-mi:“MI:0915”(physical association) | 0.560 |
| CDC23 | RSL24D1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| FAM9B | RSL24D1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| RSL24D1 | CDC23 | psi-mi:“MI:0915”(physical association) | 0.560 |
| RPL28 | MAGEB2 | psi-mi:“MI:0914”(association) | 0.560 |
| FGF3 | GTPBP10 | psi-mi:“MI:0914”(association) | 0.530 |
| MAGEB10 | GTPBP10 | psi-mi:“MI:0914”(association) | 0.530 |
| RRP8 | NVL | psi-mi:“MI:0914”(association) | 0.530 |
| RPL37A | MPHOSPH10 | psi-mi:“MI:0914”(association) | 0.530 |
| PRR11 | NVL | psi-mi:“MI:0914”(association) | 0.530 |
| MAK16 | NVL | psi-mi:“MI:0914”(association) | 0.530 |
| RPL30 | RRP8 | psi-mi:“MI:0914”(association) | 0.530 |
| PPAN | PPM1G | psi-mi:“MI:0914”(association) | 0.530 |
| MAGEB2 | GTPBP10 | psi-mi:“MI:0914”(association) | 0.530 |
| RSL24D1 | psi-mi:“MI:0915”(physical association) | 0.370 | |
| RSL24D1 | htpG | psi-mi:“MI:0915”(physical association) | 0.370 |
| MKI67 | ARHGAP10 | psi-mi:“MI:0914”(association) | 0.350 |
| CAND1 | GTPBP10 | psi-mi:“MI:0914”(association) | 0.350 |
| CPNE4 | SUPT5H | psi-mi:“MI:0914”(association) | 0.350 |
| PPAN | IGF2BP3 | psi-mi:“MI:0914”(association) | 0.350 |
BioGRID (128): RSL24D1 (Two-hybrid), RSL24D1 (Two-hybrid), FAM9B (Two-hybrid), RSL24D1 (Affinity Capture-MS), RSL24D1 (Affinity Capture-MS), RSL24D1 (Affinity Capture-MS), RSL24D1 (Affinity Capture-MS), RSL24D1 (Two-hybrid), RSL24D1 (Co-fractionation), RSL24D1 (Affinity Capture-MS), RSL24D1 (Affinity Capture-MS), RSL24D1 (Affinity Capture-MS), RSL24D1 (Affinity Capture-MS), RSL24D1 (Affinity Capture-MS), RSL24D1 (Affinity Capture-MS)
ESM2 similar proteins: A1XQU3, G1SE28, G1SKF7, G1SZ12, O65743, O70333, P37108, P38666, P40590, P46301, P50888, P50914, P61122, P83731, P83732, Q2YGT9, Q3SZ12, Q3T0U2, Q3ZC66, Q42347, Q4R5C7, Q5RBX7, Q5RF04, Q5SQF8, Q5ZKB6, Q63507, Q66WF5, Q6F444, Q6P6G7, Q6QMZ4, Q6Y263, Q792Q4, Q7SDU2, Q862I1, Q8BP67, Q8GYL5, Q8ISQ3, Q8JGR4, Q90YU3, Q962T5
Diamond homologs: A0B603, A1RXH7, A2BK96, A3DMR8, A4FYI7, A4YCQ3, A5UJN1, A6USH5, A6UT49, A6VJU5, A9A7E7, B6YWH7, C3MRJ8, C3MY94, C3MZM3, C3N7P5, C3NFS8, C4KIV3, C5A1V7, C6A1J2, G1SE28, O22165, O26357, O29492, P14116, P54064, P61122, P61123, P61124, P83731, P83732, Q07915, Q10353, Q12Z95, Q17606, Q3SZ12, Q4JAV2, Q5JGR5, Q5RF04, Q66WF5
SIGNOR signaling
0 interactions.
Enriched among interaction partners
Reactome pathways and GO biological processes over-represented among this gene’s 107 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 |
|---|---|---|---|
| Peptide chain elongation | 21 | 39.2× | 7e-27 |
| Viral mRNA Translation | 21 | 39.2× | 7e-27 |
| PELO:HBS1L and ABCE1 dissociate a ribosome on a non-stop mRNA | 21 | 38.8× | 7e-27 |
| Selenocysteine synthesis | 21 | 37.1× | 1e-26 |
| Eukaryotic Translation Termination | 21 | 37.1× | 1e-26 |
| Nonsense Mediated Decay (NMD) independent of the Exon Junction Complex (EJC) | 21 | 36.4× | 1e-26 |
| ZNF598 and the Ribosome-associated Quality Trigger (RQT) complex dissociate a ribosome stalled on a no-go mRNA | 21 | 36.4× | 1e-26 |
| Formation of a pool of free 40S subunits | 21 | 34.6× | 4e-26 |
GO biological processes:
| GO term | Partners | Fold | FDR |
|---|---|---|---|
| cytoplasmic translation | 21 | 39.7× | 6e-26 |
| ribosomal large subunit biogenesis | 7 | 31.7× | 2e-07 |
| translation | 22 | 23.1× | 5e-22 |
| ribosomal small subunit biogenesis | 8 | 18.6× | 7e-07 |
| rRNA processing | 10 | 14.4× | 2e-07 |
Disease & clinical
Clinical variants and AI predictions
ClinVar
19 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 14 |
| Likely benign | 1 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
1004 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 15:55183312:CACCT:C | donor_loss | 1.0000 |
| 15:55183313:A:AC | donor_gain | 1.0000 |
| 15:55183313:AC:A | donor_gain | 1.0000 |
| 15:55183313:ACCT:A | donor_loss | 1.0000 |
| 15:55183313:ACCTG:A | donor_gain | 1.0000 |
| 15:55183314:C:A | donor_loss | 1.0000 |
| 15:55183314:C:CA | donor_gain | 1.0000 |
| 15:55183314:CC:C | donor_gain | 1.0000 |
| 15:55183314:CCT:C | donor_gain | 1.0000 |
| 15:55183314:CCTG:C | donor_gain | 1.0000 |
| 15:55183314:CCTGC:C | donor_gain | 1.0000 |
| 15:55183396:TCAAT:T | acceptor_gain | 1.0000 |
| 15:55183397:CAAT:C | acceptor_gain | 1.0000 |
| 15:55183397:CAATC:C | acceptor_gain | 1.0000 |
| 15:55183398:AAT:A | acceptor_gain | 1.0000 |
| 15:55183398:AATCT:A | acceptor_gain | 1.0000 |
| 15:55183399:AT:A | acceptor_gain | 1.0000 |
| 15:55183399:ATCTA:A | acceptor_gain | 1.0000 |
| 15:55183400:TCTAC:T | acceptor_gain | 1.0000 |
| 15:55183401:C:CC | acceptor_gain | 1.0000 |
| 15:55183401:CT:C | acceptor_gain | 1.0000 |
| 15:55183402:T:A | acceptor_gain | 1.0000 |
| 15:55183405:A:T | acceptor_gain | 1.0000 |
| 15:55183407:C:CT | acceptor_gain | 1.0000 |
| 15:55183408:A:T | acceptor_gain | 1.0000 |
| 15:55183412:CATAT:C | acceptor_gain | 1.0000 |
| 15:55183413:A:C | acceptor_gain | 1.0000 |
| 15:55185356:TCATA:T | donor_loss | 1.0000 |
| 15:55185357:CATAC:C | donor_loss | 1.0000 |
| 15:55185358:ATAC:A | donor_loss | 1.0000 |
AlphaMissense
1103 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 15:55192764:A:G | W51R | 1.000 |
| 15:55192764:A:T | W51R | 1.000 |
| 15:55196824:G:T | R23S | 1.000 |
| 15:55192750:G:C | F55L | 0.999 |
| 15:55192750:G:T | F55L | 0.999 |
| 15:55192752:A:G | F55L | 0.999 |
| 15:55192760:G:A | T52I | 0.999 |
| 15:55192762:C:A | W51C | 0.999 |
| 15:55192762:C:G | W51C | 0.999 |
| 15:55192778:G:T | P46H | 0.999 |
| 15:55192780:A:C | N45K | 0.999 |
| 15:55192780:A:T | N45K | 0.999 |
| 15:55192795:A:C | F40L | 0.999 |
| 15:55192795:A:T | F40L | 0.999 |
| 15:55192797:A:G | F40L | 0.999 |
| 15:55192807:A:C | C36W | 0.999 |
| 15:55192808:C:T | C36Y | 0.999 |
| 15:55192809:A:G | C36R | 0.999 |
| 15:55192820:C:T | C32Y | 0.999 |
| 15:55192821:A:G | C32R | 0.999 |
| 15:55192822:A:C | F31L | 0.999 |
| 15:55192822:A:T | F31L | 0.999 |
| 15:55192823:A:G | F31S | 0.999 |
| 15:55192824:A:G | F31L | 0.999 |
| 15:55192828:G:C | F29L | 0.999 |
| 15:55192828:G:T | F29L | 0.999 |
| 15:55192830:A:G | F29L | 0.999 |
| 15:55196816:A:C | D25E | 0.999 |
| 15:55196816:A:T | D25E | 0.999 |
| 15:55196817:T:A | D25V | 0.999 |
dbSNP variants (sampled 300 via entrez): RS1000007114 (15:55194943 A>T), RS1000354723 (15:55189111 T>C), RS1000405235 (15:55191790 T>C), RS1000419426 (15:55186017 T>C), RS1000455958 (15:55185619 T>C), RS1000477500 (15:55181094 C>T), RS1000736175 (15:55193070 A>C,G), RS1000760403 (15:55187616 C>T), RS1001190004 (15:55192128 G>A,C), RS1001225223 (15:55194609 C>G,T), RS1001473808 (15:55197756 G>C,T), RS1001566534 (15:55180753 G>C), RS1001601982 (15:55183124 G>C), RS1001680598 (15:55186304 G>A), RS1001738055 (15:55197515 C>T)
Disease associations
OMIM: gene MIM:613262 | 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 |
|---|---|---|
| GCST001059_12 | Neutrophil count | 7.000000e-06 |
| GCST003142_2 | Proteinuria in chronic kidney disease | 5.000000e-06 |
| GCST005175_36 | Coronary artery calcified atherosclerotic plaque (90 or 130 HU threshold) in type 2 diabetes | 8.000000e-06 |
EFO canonical traits (2, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0004833 | neutrophil count |
| EFO:0004723 | coronary artery calcification |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
48 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| sodium arsenite | decreases expression, increases abundance, increases expression | 4 |
| Valproic Acid | affects expression, decreases expression | 3 |
| Air Pollutants | increases abundance, increases expression, decreases expression | 2 |
| Arsenic | decreases expression, increases abundance, increases expression | 2 |
| Tretinoin | decreases expression | 2 |
| Cyclosporine | increases expression | 2 |
| Particulate Matter | decreases expression, increases abundance, increases expression | 2 |
| aristolochic acid I | decreases expression | 1 |
| dicrotophos | decreases expression | 1 |
| uranyl acetate | affects expression | 1 |
| bisphenol A | affects expression | 1 |
| deoxynivalenol | increases expression | 1 |
| beta-lapachone | increases expression | 1 |
| arsenite | affects binding, increases reaction | 1 |
| tris(1,3-dichloro-2-propyl)phosphate | increases expression | 1 |
| nivalenol | increases expression | 1 |
| perfluorooctane sulfonic acid | increases expression | 1 |
| chloropicrin | affects expression | 1 |
| perfluoro-n-nonanoic acid | increases expression | 1 |
| deguelin | increases expression | 1 |
| fenpyroximate | increases expression | 1 |
| pyrimidifen | increases expression | 1 |
| torcetrapib | increases expression | 1 |
| ICG 001 | increases expression | 1 |
| thifluzamide | increases expression | 1 |
| pyrachlostrobin | increases expression | 1 |
| (4-amino-1,4-dihydro-3-(2-pyridyl)-5-thioxo-1,2,4-triazole)copper(II) | increases expression | 1 |
| bisphenol S | affects cotreatment, increases expression | 1 |
| jinfukang | decreases expression | 1 |
| MT19c compound | 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.