RPL7L1
gene geneOn this page
Also known as dJ475N16.4
Summary
RPL7L1 (ribosomal protein L7 like 1, HGNC:21370) is a protein-coding gene on chromosome 6p21.1, encoding Ribosomal protein uL30-like (Q6DKI1). It is a common-essential gene (DepMap: required in 99.5% of cancer cell lines).
Enables RNA binding activity. Predicted to be involved in maturation of LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA). Predicted to act upstream of or within blastocyst formation. Located in mitochondrion.
Source: NCBI Gene 285855 — RefSeq curated summary.
At a glance
- GWAS associations: 2
- Clinical variants (ClinVar): 51 total
- Cancer dependency (DepMap): dependent in 99.5% of screened cell lines (common-essential)
- MANE Select transcript:
NM_001366481
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:21370 |
| Approved symbol | RPL7L1 |
| Name | ribosomal protein L7 like 1 |
| Location | 6p21.1 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | dJ475N16.4 |
| Ensembl gene | ENSG00000146223 |
| Ensembl biotype | protein_coding |
| OMIM | 617417 |
| Entrez | 285855 |
Gene structure
Transcript identifiers
Ensembl transcripts: 13 — 6 protein_coding, 3 retained_intron, 3 protein_coding_CDS_not_defined, 1 nonsense_mediated_decay
ENST00000304734, ENST00000397415, ENST00000459829, ENST00000462348, ENST00000483998, ENST00000487619, ENST00000492836, ENST00000493763, ENST00000497417, ENST00000602561, ENST00000934499, ENST00000934500, ENST00000953717
RefSeq mRNA: 2 — MANE Select: NM_001366481
NM_001366481, NM_198486
CCDS: CCDS4873
Canonical transcript exons
ENST00000493763 — 6 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001833955 | 42879616 | 42879951 |
| ENSE00001934591 | 42886256 | 42889900 |
| ENSE00003464727 | 42883451 | 42883614 |
| ENSE00003492646 | 42884613 | 42884750 |
| ENSE00003526126 | 42880861 | 42880966 |
| ENSE00003629291 | 42885974 | 42886083 |
Expression profiles
Bgee: expression breadth ubiquitous, 262 present calls, max score 98.25.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 4.1835 / max 87.8376, expressed in 1593 samples.
FANTOM5 promoters (3 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 67825 | 2.5884 | 1350 |
| 67827 | 0.9643 | 560 |
| 67826 | 0.6309 | 342 |
Top tissues by expression
262 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| upper arm skin | UBERON:0004263 | 98.25 | gold quality |
| kidney epithelium | UBERON:0004819 | 98.05 | gold quality |
| bronchial epithelial cell | CL:0002328 | 97.53 | gold quality |
| skin of hip | UBERON:0001554 | 97.36 | gold quality |
| oral cavity | UBERON:0000167 | 97.34 | gold quality |
| bronchus | UBERON:0002185 | 97.31 | gold quality |
| mammalian vulva | UBERON:0000997 | 97.14 | gold quality |
| mucosa of sigmoid colon | UBERON:0004993 | 97.08 | gold quality |
| buccal mucosa cell | CL:0002336 | 97.06 | gold quality |
| tibialis anterior | UBERON:0001385 | 96.99 | gold quality |
| ileal mucosa | UBERON:0000331 | 96.91 | gold quality |
| upper leg skin | UBERON:0004262 | 96.89 | gold quality |
| islet of Langerhans | UBERON:0000006 | 96.86 | gold quality |
| epithelial cell of pancreas | CL:0000083 | 96.77 | gold quality |
| seminal vesicle | UBERON:0000998 | 96.68 | gold quality |
| postcentral gyrus | UBERON:0002581 | 96.62 | gold quality |
| Brodmann (1909) area 46 | UBERON:0006483 | 96.61 | gold quality |
| cartilage tissue | UBERON:0002418 | 96.58 | gold quality |
| penis | UBERON:0000989 | 96.54 | gold quality |
| caput epididymis | UBERON:0004358 | 96.50 | gold quality |
| corpus epididymis | UBERON:0004359 | 96.46 | gold quality |
| entorhinal cortex | UBERON:0002728 | 96.36 | gold quality |
| cortical plate | UBERON:0005343 | 96.29 | gold quality |
| nasal cavity epithelium | UBERON:0005384 | 96.29 | gold quality |
| left ventricle myocardium | UBERON:0006566 | 96.21 | gold quality |
| colonic mucosa | UBERON:0000317 | 96.17 | gold quality |
| adult organism | UBERON:0007023 | 96.14 | gold quality |
| cerebellar vermis | UBERON:0004720 | 96.10 | gold quality |
| parietal lobe | UBERON:0001872 | 96.08 | gold quality |
| gingiva | UBERON:0001828 | 96.07 | gold quality |
Single-cell (SCXA)
Detected in 2 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-MTAB-7381 | no | 375.76 |
| E-ANND-3 | no | 0.00 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
87 targeting RPL7L1, 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-4682 | 100.00 | 68.89 | 1258 |
| HSA-MIR-4425 | 100.00 | 67.59 | 1049 |
| HSA-MIR-4282 | 99.99 | 75.36 | 6408 |
| HSA-MIR-4531 | 99.99 | 69.70 | 3181 |
| HSA-MIR-548C-3P | 99.99 | 74.01 | 7587 |
| HSA-MIR-3148 | 99.97 | 75.06 | 6478 |
| HSA-MIR-6778-3P | 99.96 | 67.29 | 2693 |
| HSA-MIR-4666A-3P | 99.96 | 71.71 | 3434 |
| HSA-MIR-559 | 99.95 | 72.28 | 3609 |
| HSA-MIR-144-3P | 99.94 | 73.98 | 2698 |
| HSA-MIR-9983-3P | 99.94 | 71.48 | 3631 |
| HSA-MIR-552-5P | 99.93 | 68.56 | 1583 |
| HSA-MIR-145-5P | 99.92 | 71.13 | 1836 |
| HSA-MIR-5195-3P | 99.92 | 70.92 | 1877 |
| HSA-MIR-1297 | 99.91 | 73.41 | 3162 |
| HSA-MIR-627-3P | 99.90 | 71.42 | 3316 |
| HSA-MIR-129-5P | 99.88 | 70.26 | 3273 |
| HSA-MIR-4271 | 99.88 | 68.32 | 2244 |
| HSA-MIR-3140-3P | 99.88 | 68.47 | 2069 |
| HSA-MIR-30A-3P | 99.87 | 69.74 | 2928 |
| HSA-MIR-30D-3P | 99.87 | 69.92 | 2917 |
| HSA-MIR-30E-3P | 99.87 | 69.68 | 2942 |
| HSA-MIR-4420 | 99.82 | 70.08 | 1624 |
| HSA-MIR-6875-3P | 99.82 | 70.26 | 2983 |
| HSA-MIR-4307 | 99.82 | 70.45 | 3374 |
| HSA-MIR-181B-2-3P | 99.81 | 70.06 | 1646 |
| HSA-MIR-181B-3P | 99.81 | 70.06 | 1646 |
| HSA-MIR-204-5P | 99.79 | 71.62 | 2439 |
| HSA-MIR-211-5P | 99.79 | 71.65 | 2440 |
| HSA-MIR-26A-5P | 99.78 | 73.52 | 2303 |
Functional genomics
DepMap (CRISPR cell-line fitness): dependent in 99.5% of screened cell lines, common-essential.
Cross-species orthologs
5 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | rpl7l1 | ENSDARG00000042864 |
| mus_musculus | Rpl7l1 | ENSMUSG00000063888 |
| rattus_norvegicus | Rpl7l1 | ENSRNOG00000016269 |
| drosophila_melanogaster | RpL7 | FBGN0005593 |
| caenorhabditis_elegans | rpl-7 | WBGENE00004418 |
Paralogs (1): RPL7 (ENSG00000147604)
Protein
Protein identifiers
Ribosomal protein uL30-like — Q6DKI1 (reviewed: Q6DKI1)
Alternative names: 60S ribosomal protein L7-like 1, Large ribosomal subunit protein uL30-like 1
All UniProt accessions (3): Q6DKI1, A0A1W2PQ76, R4GMU7
UniProt curated annotations — full annotation on UniProt →
Similarity. Belongs to the universal ribosomal protein uL30 family.
Isoforms (2)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q6DKI1-1 | 1 | yes |
| Q6DKI1-2 | 2 |
RefSeq proteins (2): NP_001353410, NP_940888 (=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR005998 | Ribosomal_uL30_euk | Family |
| IPR012988 | Ribosomal_uL30_N_euk | Domain |
| IPR016082 | Ribosomal_uL30_ferredoxin-like | Domain |
| IPR018038 | Ribosomal_uL30_CS | Conserved_site |
| IPR035808 | Ribosomal_uL30_euk_arc | Domain |
| IPR036919 | Ribo_uL30_ferredoxin-like_sf | Homologous_superfamily |
| IPR039699 | Ribosomal_uL30 | Family |
Pfam: PF00327, PF08079
UniProt features (5 total): sequence conflict 2, chain 1, modified residue 1, splice variant 1
Structure
Experimental structures (PDB)
25 structures.
| 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 |
| 8FKY | ELECTRON MICROSCOPY | 2.67 |
| 8FL2 | ELECTRON MICROSCOPY | 2.67 |
| 8FKQ | ELECTRON MICROSCOPY | 2.76 |
| 8FKT | ELECTRON MICROSCOPY | 2.81 |
| 8FKU | ELECTRON MICROSCOPY | 2.82 |
| 8FKP | ELECTRON MICROSCOPY | 2.85 |
| 8FKS | ELECTRON MICROSCOPY | 2.88 |
| 8FKR | ELECTRON MICROSCOPY | 2.89 |
| 8FL4 | ELECTRON MICROSCOPY | 2.89 |
| 8INF | ELECTRON MICROSCOPY | 3 |
| 8FKZ | ELECTRON MICROSCOPY | 3.04 |
| 8INE | ELECTRON MICROSCOPY | 3.2 |
| 8IPY | ELECTRON MICROSCOPY | 3.2 |
| 8IR3 | ELECTRON MICROSCOPY | 3.5 |
| 8IPX | ELECTRON MICROSCOPY | 4.3 |
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q6DKI1-F1 | 87.51 | 0.70 |
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): 63
Function
Pathways and Gene Ontology
Reactome pathways
0 pathways
MSigDB gene sets: 163 (showing top):
GOBP_RIBOSOME_BIOGENESIS, GOBP_EMBRYO_DEVELOPMENT_ENDING_IN_BIRTH_OR_EGG_HATCHING, TGCGCANK_UNKNOWN, GCM_GSPT1, GOBP_BLASTOCYST_FORMATION, GOBP_IN_UTERO_EMBRYONIC_DEVELOPMENT, GOBP_MATURATION_OF_LSU_RRNA, GOMF_STRUCTURAL_CONSTITUENT_OF_RIBOSOME, GOBP_BLASTOCYST_DEVELOPMENT, GCM_NUMA1, GCM_NF2, GOBP_EMBRYO_DEVELOPMENT, GOBP_RIBONUCLEOPROTEIN_COMPLEX_BIOGENESIS, GOBP_RIBOSOMAL_LARGE_SUBUNIT_BIOGENESIS, GCM_RBM8A
GO Biological Process (2): maturation of LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000463), blastocyst formation (GO:0001825)
GO Molecular Function (3): RNA binding (GO:0003723), structural constituent of ribosome (GO:0003735), protein binding (GO:0005515)
GO Cellular Component (5): nucleolus (GO:0005730), mitochondrion (GO:0005739), cytosolic large ribosomal subunit (GO:0022625), ribosome (GO:0005840), ribonucleoprotein complex (GO:1990904)
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| intracellular membraneless organelle | 2 |
| maturation of LSU-rRNA | 1 |
| blastocyst development | 1 |
| anatomical structure formation involved in morphogenesis | 1 |
| nucleic acid binding | 1 |
| structural molecule activity | 1 |
| ribosome | 1 |
| binding | 1 |
| nuclear lumen | 1 |
| cytoplasm | 1 |
| intracellular membrane-bounded organelle | 1 |
| large ribosomal subunit | 1 |
| cytosolic ribosome | 1 |
| protein-containing complex | 1 |
Protein interactions and networks
STRING
3691 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| RPL7L1 | SURF6 | O75683 | 657 |
| RPL7L1 | RPL19 | P14118 | 581 |
| RPL7L1 | TIA1 | P31483 | 480 |
| RPL7L1 | AP3S1 | Q92572 | 469 |
| RPL7L1 | MRPL15 | Q9P015 | 442 |
| RPL7L1 | GRWD1 | Q9BQ67 | 437 |
| RPL7L1 | GOSR2 | O14653 | 431 |
| RPL7L1 | CFB | P00751 | 426 |
| RPL7L1 | RPL39 | P02404 | 425 |
| RPL7L1 | IGFBP7 | Q16270 | 421 |
| RPL7L1 | RPL23 | P23131 | 417 |
| RPL7L1 | APOB | P04114 | 408 |
| RPL7L1 | CAPZA1 | P52907 | 406 |
| RPL7L1 | RSL24D1 | Q9UHA3 | 403 |
| RPL7L1 | RRP7A | Q9Y3A4 | 399 |
IntAct
144 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| WDR12 | PES1 | psi-mi:“MI:0914”(association) | 0.850 |
| PES1 | BOP1 | psi-mi:“MI:0914”(association) | 0.810 |
| CFTR | ESYT2 | psi-mi:“MI:2364”(proximity) | 0.710 |
| PTK2 | TGFB1I1 | psi-mi:“MI:0914”(association) | 0.680 |
| RPL7L1 | RPL7A | psi-mi:“MI:0915”(physical association) | 0.670 |
| LIN28A | IGF2BP3 | psi-mi:“MI:0914”(association) | 0.640 |
| RPL7A | NOP56 | psi-mi:“MI:0914”(association) | 0.640 |
| CCNDBP1 | RPL7L1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| RPL28 | MAGEB2 | psi-mi:“MI:0914”(association) | 0.560 |
| MAGEA4 | MAGEB16 | psi-mi:“MI:0914”(association) | 0.530 |
| MAGEB10 | GTPBP10 | psi-mi:“MI:0914”(association) | 0.530 |
| RBM34 | NVL | psi-mi:“MI:0914”(association) | 0.530 |
| PES1 | AP3B1 | psi-mi:“MI:0914”(association) | 0.530 |
| WDR55 | PES1 | psi-mi:“MI:0914”(association) | 0.530 |
| RPL37A | MPHOSPH10 | psi-mi:“MI:0914”(association) | 0.530 |
| MACROH2A2 | PPM1G | psi-mi:“MI:0914”(association) | 0.530 |
| PRR11 | NVL | psi-mi:“MI:0914”(association) | 0.530 |
| RPL30 | RRP8 | psi-mi:“MI:0914”(association) | 0.530 |
| PUM3 | RRP8 | psi-mi:“MI:0914”(association) | 0.530 |
| N | NOP56 | psi-mi:“MI:0914”(association) | 0.530 |
| N | RBM47 | psi-mi:“MI:0914”(association) | 0.530 |
| KRR1 | MPHOSPH10 | psi-mi:“MI:0914”(association) | 0.530 |
| ABT1 | ZNF316 | psi-mi:“MI:0914”(association) | 0.530 |
| RPL7L1 | ZBTB24 | psi-mi:“MI:0914”(association) | 0.530 |
| ZBTB24 | CBX6 | psi-mi:“MI:0914”(association) | 0.530 |
BioGRID (267): RPL7L1 (Affinity Capture-MS), RPL7L1 (Affinity Capture-MS), RPL7L1 (Affinity Capture-MS), RPL7L1 (Affinity Capture-MS), RPL7L1 (Affinity Capture-MS), RPL7L1 (Affinity Capture-MS), RPL7L1 (Affinity Capture-MS), RPL7L1 (Affinity Capture-MS), RPL7L1 (Affinity Capture-MS), RPL7L1 (Affinity Capture-MS), RPL7L1 (Affinity Capture-MS), RPL7L1 (Affinity Capture-MS), RPL7L1 (Affinity Capture-MS), RPL7L1 (Affinity Capture-MS), RPL7L1 (Affinity Capture-MS)
ESM2 similar proteins: A0A1D8PDL6, A0A1D8PK43, A0BD73, A0CEY2, A5GFQ0, A9A597, O01802, O42848, O42991, O43004, O60143, P05426, P05737, P0CX49, P0CX50, P0DJ13, P0DJ15, P0DJ17, P11874, P14148, P17937, P18124, P25457, P26784, P26785, P32100, P32101, P60039, P60040, Q12213, Q12ZT0, Q27389, Q4DZP2, Q4R506, Q58DT1, Q5AB87, Q5R9R4, Q5RAH8, Q5ZJ56, Q6BIF5
Diamond homologs: A0A1D8PDL6, A0BD73, A0CEY2, A5GFQ0, G1SV32, O01802, O60143, P05426, P05737, P0DJ13, P11874, P14148, P17937, P18124, P25457, P32100, P32101, P32102, P40693, P60039, P60040, Q12213, Q4R506, Q58DT1, Q5R9R4, Q5RAH8, Q5ZJ56, Q6BIF5, Q6BTA4, Q6C603, Q6DKI1, Q6FS36, Q6FSN6, Q755A7, Q75ET5, Q7SBD5, Q8SS93, Q9D8M4, Q9HH78, Q9LHP1
SIGNOR signaling
0 interactions.
Enriched among interaction partners
Reactome pathways and GO biological processes over-represented among this gene’s 149 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 | 18 | 25.4× | 8e-19 |
| Viral mRNA Translation | 18 | 25.4× | 8e-19 |
| PELO:HBS1L and ABCE1 dissociate a ribosome on a non-stop mRNA | 18 | 25.1× | 8e-19 |
| Selenocysteine synthesis | 18 | 24.0× | 1e-18 |
| Eukaryotic Translation Termination | 18 | 24.0× | 1e-18 |
| Nonsense Mediated Decay (NMD) independent of the Exon Junction Complex (EJC) | 18 | 23.6× | 1e-18 |
| ZNF598 and the Ribosome-associated Quality Trigger (RQT) complex dissociate a ribosome stalled on a no-go mRNA | 18 | 23.6× | 1e-18 |
| Formation of a pool of free 40S subunits | 18 | 22.4× | 2e-18 |
GO biological processes:
| GO term | Partners | Fold | FDR |
|---|---|---|---|
| ribosomal large subunit biogenesis | 8 | 26.9× | 7e-08 |
| cytoplasmic translation | 18 | 25.2× | 8e-18 |
| ribosomal small subunit biogenesis | 11 | 19.0× | 2e-09 |
| rRNA processing | 14 | 15.0× | 1e-10 |
| translation | 19 | 14.8× | 1e-14 |
| negative regulation of translation | 6 | 8.9× | 4e-03 |
| regulation of cell cycle | 9 | 5.1× | 5e-03 |
Disease & clinical
Clinical variants and AI predictions
ClinVar
51 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 40 |
| Likely benign | 0 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
1103 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 6:42883446:TGTA:T | acceptor_loss | 1.0000 |
| 6:42883447:GTAGC:G | acceptor_loss | 1.0000 |
| 6:42883448:TA:T | acceptor_loss | 1.0000 |
| 6:42883449:A:AG | acceptor_gain | 1.0000 |
| 6:42883449:A:C | acceptor_loss | 1.0000 |
| 6:42883450:G:GT | acceptor_gain | 1.0000 |
| 6:42883450:GC:G | acceptor_gain | 1.0000 |
| 6:42883450:GCA:G | acceptor_gain | 1.0000 |
| 6:42883450:GCAGA:G | acceptor_gain | 1.0000 |
| 6:42883610:GAAAG:G | donor_gain | 1.0000 |
| 6:42883615:G:GA | donor_loss | 1.0000 |
| 6:42883615:G:GG | donor_gain | 1.0000 |
| 6:42883616:T:G | donor_loss | 1.0000 |
| 6:42884607:TTTCA:T | acceptor_loss | 1.0000 |
| 6:42884608:TTCAG:T | acceptor_loss | 1.0000 |
| 6:42884609:TCAGG:T | acceptor_loss | 1.0000 |
| 6:42884610:CAGGA:C | acceptor_loss | 1.0000 |
| 6:42884611:A:AC | acceptor_loss | 1.0000 |
| 6:42884611:AG:A | acceptor_gain | 1.0000 |
| 6:42884612:G:GT | acceptor_loss | 1.0000 |
| 6:42884612:GG:G | acceptor_gain | 1.0000 |
| 6:42884746:TGGGG:T | donor_gain | 1.0000 |
| 6:42884747:GGGG:G | donor_gain | 1.0000 |
| 6:42884747:GGGGG:G | donor_gain | 1.0000 |
| 6:42884748:GGG:G | donor_gain | 1.0000 |
| 6:42884748:GGGG:G | donor_gain | 1.0000 |
| 6:42884749:GG:G | donor_gain | 1.0000 |
| 6:42884749:GGG:G | donor_gain | 1.0000 |
| 6:42884750:GG:G | donor_gain | 1.0000 |
| 6:42885971:T:G | acceptor_gain | 1.0000 |
AlphaMissense
1664 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 6:42886003:T:C | L160P | 0.997 |
| 6:42886013:A:C | K163N | 0.997 |
| 6:42886013:A:T | K163N | 0.997 |
| 6:42886286:T:C | L197P | 0.997 |
| 6:42880896:T:C | L26P | 0.996 |
| 6:42880906:G:C | R29S | 0.996 |
| 6:42880906:G:T | R29S | 0.996 |
| 6:42880928:G:C | A37P | 0.996 |
| 6:42884749:G:A | G150R | 0.996 |
| 6:42884749:G:C | G150R | 0.996 |
| 6:42884750:G:A | G150E | 0.996 |
| 6:42885994:T:A | V157D | 0.996 |
| 6:42880900:A:C | K27N | 0.995 |
| 6:42880900:A:T | K27N | 0.995 |
| 6:42880937:G:C | A40P | 0.995 |
| 6:42884746:T:A | W149R | 0.995 |
| 6:42884746:T:C | W149R | 0.995 |
| 6:42885997:G:C | R158P | 0.995 |
| 6:42886012:A:T | K163I | 0.995 |
| 6:42886015:G:C | R164P | 0.995 |
| 6:42886018:G:A | G165E | 0.995 |
| 6:42886061:T:A | N179K | 0.995 |
| 6:42886061:T:G | N179K | 0.995 |
| 6:42884741:T:A | V147E | 0.994 |
| 6:42886014:C:A | R164S | 0.994 |
| 6:42886273:T:C | C193R | 0.994 |
| 6:42886283:A:C | D196A | 0.994 |
| 6:42880927:A:C | K36N | 0.993 |
| 6:42880927:A:T | K36N | 0.993 |
| 6:42885979:C:A | P152Q | 0.993 |
dbSNP variants (sampled 300 via entrez): RS1000375280 (6:42886954 A>G), RS1000572564 (6:42882413 G>A), RS1000639245 (6:42881319 G>A,C), RS1000677699 (6:42888457 T>A), RS1001010086 (6:42879502 C>T), RS1001229813 (6:42879770 A>T), RS1001249048 (6:42880221 C>T), RS1001309879 (6:42885726 G>T), RS1001347714 (6:42885756 C>T), RS1001378861 (6:42885484 A>G), RS1001575854 (6:42880367 C>T), RS1001656053 (6:42885503 C>G,T), RS1003140580 (6:42885104 T>C,G), RS1003223887 (6:42889812 C>T), RS1003363609 (6:42888994 A>G)
Disease associations
OMIM: gene MIM:617417 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
2 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST002449_4 | Plasma omega-6 polyunsaturated fatty acid levels (arachidonic acid) | 2.000000e-06 |
| GCST007876_88 | Estimated glomerular filtration rate | 3.000000e-28 |
EFO canonical traits (1, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0005680 | omega-6 polyunsaturated fatty acid measurement |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
33 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Air Pollutants | decreases expression, affects expression, increases abundance | 3 |
| Particulate Matter | decreases expression, increases abundance, affects cotreatment | 2 |
| aristolochic acid I | increases expression | 1 |
| dicrotophos | decreases expression | 1 |
| triphenyl phosphate | affects expression | 1 |
| deoxynivalenol | increases expression | 1 |
| trichostatin A | affects expression | 1 |
| sodium arsenite | decreases expression | 1 |
| di-n-butylphosphoric acid | affects expression | 1 |
| chloropicrin | increases expression | 1 |
| ICG 001 | increases expression | 1 |
| 4-(4-((5-(4,5-dimethyl-2-nitrophenyl)-2-furanyl)methylene)-4,5-dihydro-3-methyl-5-oxo-1H-pyrazol-1-yl)benzoic acid | increases expression | 1 |
| Resveratrol | affects cotreatment, increases expression | 1 |
| Benzo(a)pyrene | increases methylation | 1 |
| Cadmium | increases abundance, increases expression | 1 |
| Dichlorodiphenyl Dichloroethylene | increases expression | 1 |
| Diethylhexyl Phthalate | increases expression | 1 |
| Gasoline | affects cotreatment, decreases expression, increases abundance | 1 |
| Hydrogen Peroxide | affects expression | 1 |
| Ozone | affects expression, increases abundance | 1 |
| Plant Extracts | affects cotreatment, increases expression | 1 |
| Polycyclic Aromatic Hydrocarbons | increases abundance, affects cotreatment, decreases expression | 1 |
| Ribonucleotides | affects binding | 1 |
| Rotenone | increases expression | 1 |
| Smoke | decreases expression, increases abundance | 1 |
| Thiram | decreases expression | 1 |
| Tretinoin | decreases expression | 1 |
| Aflatoxin B1 | affects cotreatment, decreases expression | 1 |
| Asbestos, Crocidolite | decreases expression | 1 |
| Antirheumatic Agents | decreases 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.