NLE1
gene geneOn this page
Also known as FLJ10458Rsa4
Summary
NLE1 (notchless homolog 1, HGNC:19889) is a protein-coding gene on chromosome 17q12, encoding Notchless protein homolog 1 (Q9NVX2). Plays a role in regulating Notch activity. It is a common-essential gene (DepMap: required in 98.3% of cancer cell lines).
Predicted to be involved in regulation of Notch signaling pathway. Predicted to act upstream of or within several processes, including chordate embryonic development; hematopoietic stem cell homeostasis; and positive regulation of canonical Wnt signaling pathway. Located in nucleolus and nucleoplasm.
Source: NCBI Gene 54475 — RefSeq curated summary.
At a glance
- Clinical variants (ClinVar): 83 total
- Cancer dependency (DepMap): dependent in 98.3% of screened cell lines (common-essential)
- MANE Select transcript:
NM_018096
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:19889 |
| Approved symbol | NLE1 |
| Name | notchless homolog 1 |
| Location | 17q12 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | FLJ10458, Rsa4 |
| Ensembl gene | ENSG00000073536 |
| Ensembl biotype | protein_coding |
| OMIM | 620924 |
| Entrez | 54475 |
Gene structure
Transcript identifiers
Ensembl transcripts: 8 — 5 protein_coding, 2 nonsense_mediated_decay, 1 protein_coding_CDS_not_defined
ENST00000360831, ENST00000442241, ENST00000586869, ENST00000588019, ENST00000588642, ENST00000589367, ENST00000593176, ENST00000932057
RefSeq mRNA: 2 — MANE Select: NM_018096
NM_001014445, NM_018096
CCDS: CCDS11291, CCDS45647
Canonical transcript exons
ENST00000442241 — 13 exons
| Exon | Start | End |
|---|---|---|
| ENSE00000714191 | 35133339 | 35133498 |
| ENSE00000714194 | 35135249 | 35135451 |
| ENSE00000714196 | 35136169 | 35136215 |
| ENSE00000887621 | 35133171 | 35133241 |
| ENSE00001187538 | 35142258 | 35142303 |
| ENSE00001623134 | 35128730 | 35132449 |
| ENSE00002347287 | 35141979 | 35142122 |
| ENSE00003505929 | 35137001 | 35137193 |
| ENSE00003514198 | 35139849 | 35140066 |
| ENSE00003536942 | 35137814 | 35137890 |
| ENSE00003542494 | 35139235 | 35139314 |
| ENSE00003650048 | 35137543 | 35137640 |
| ENSE00003654021 | 35136362 | 35136497 |
Expression profiles
Bgee: expression breadth ubiquitous, 169 present calls, max score 90.83.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 9.3112 / max 116.2935, expressed in 1685 samples.
FANTOM5 promoters (1 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 165343 | 9.3112 | 1685 |
Top tissues by expression
284 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| primordial germ cell in gonad | CL:0000670 ∩ UBERON:0000991 | 90.83 | gold quality |
| body of pancreas | UBERON:0001150 | 88.57 | gold quality |
| cortical plate | UBERON:0005343 | 84.96 | gold quality |
| ganglionic eminence | UBERON:0004023 | 82.72 | gold quality |
| pancreas | UBERON:0001264 | 82.48 | gold quality |
| ventricular zone | UBERON:0003053 | 81.27 | gold quality |
| stromal cell of endometrium | CL:0002255 | 81.20 | gold quality |
| left ovary | UBERON:0002119 | 81.08 | gold quality |
| prefrontal cortex | UBERON:0000451 | 80.90 | gold quality |
| hindlimb stylopod muscle | UBERON:0004252 | 80.73 | gold quality |
| embryo | UBERON:0000922 | 80.66 | gold quality |
| gastrocnemius | UBERON:0001388 | 80.14 | gold quality |
| right ovary | UBERON:0002118 | 79.78 | gold quality |
| body of stomach | UBERON:0001161 | 79.70 | gold quality |
| mucosa of transverse colon | UBERON:0004991 | 79.43 | gold quality |
| muscle of leg | UBERON:0001383 | 79.25 | gold quality |
| left adrenal gland | UBERON:0001234 | 79.13 | gold quality |
| left adrenal gland cortex | UBERON:0035825 | 79.13 | gold quality |
| right adrenal gland | UBERON:0001233 | 79.12 | gold quality |
| esophagus mucosa | UBERON:0002469 | 78.79 | gold quality |
| right adrenal gland cortex | UBERON:0035827 | 78.67 | gold quality |
| body of uterus | UBERON:0009853 | 77.95 | gold quality |
| omental fat pad | UBERON:0010414 | 77.93 | gold quality |
| peritoneum | UBERON:0002358 | 77.86 | gold quality |
| ovary | UBERON:0000992 | 77.80 | gold quality |
| granulocyte | CL:0000094 | 77.75 | gold quality |
| left uterine tube | UBERON:0001303 | 77.56 | gold quality |
| left coronary artery | UBERON:0001626 | 77.28 | gold quality |
| stomach | UBERON:0000945 | 77.24 | gold quality |
| adrenal gland | UBERON:0002369 | 77.21 | gold quality |
Single-cell (SCXA)
Detected in 1 experiment(s), a significant marker in 0.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | no | 3.71 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
33 targeting NLE1, 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-1193 | 100.00 | 65.93 | 529 |
| HSA-MIR-8485 | 100.00 | 77.57 | 4731 |
| HSA-MIR-6825-5P | 99.96 | 69.81 | 3431 |
| HSA-MIR-381-3P | 99.93 | 71.87 | 2854 |
| HSA-MIR-300 | 99.92 | 71.76 | 2856 |
| HSA-MIR-4302 | 99.89 | 67.94 | 1187 |
| HSA-MIR-92A-2-5P | 99.75 | 67.01 | 2164 |
| HSA-MIR-1825 | 99.72 | 68.11 | 1089 |
| HSA-MIR-1207-5P | 99.49 | 69.11 | 2983 |
| HSA-MIR-149-5P | 99.25 | 67.16 | 1315 |
| HSA-MIR-4763-3P | 99.10 | 67.83 | 2649 |
| HSA-MIR-661 | 99.09 | 65.94 | 2062 |
| HSA-MIR-6868-5P | 99.06 | 65.69 | 1284 |
| HSA-MIR-4725-5P | 98.67 | 65.42 | 628 |
| HSA-MIR-504-5P | 98.67 | 65.40 | 631 |
| HSA-MIR-4722-5P | 98.46 | 66.34 | 1611 |
| HSA-MIR-3138 | 98.41 | 67.53 | 744 |
| HSA-MIR-4450 | 98.26 | 68.35 | 725 |
| HSA-MIR-4768-3P | 98.16 | 66.02 | 2330 |
| HSA-MIR-4303 | 98.01 | 68.13 | 2304 |
| HSA-MIR-6787-5P | 97.54 | 63.85 | 457 |
| HSA-MIR-3127-5P | 97.52 | 65.24 | 786 |
| HSA-MIR-3200-5P | 97.34 | 65.97 | 826 |
| HSA-MIR-148B-5P | 97.29 | 66.30 | 992 |
| HSA-MIR-6874-3P | 97.29 | 66.34 | 975 |
| HSA-MIR-6856-3P | 96.47 | 66.27 | 781 |
| HSA-MIR-8081 | 96.42 | 67.75 | 738 |
| HSA-MIR-24-1-5P | 95.57 | 65.85 | 492 |
| HSA-MIR-24-2-5P | 95.57 | 66.16 | 484 |
| HSA-MIR-31-3P | 95.17 | 69.82 | 575 |
Functional genomics
DepMap (CRISPR cell-line fitness): dependent in 98.3% of screened cell lines, common-essential.
Literature-anchored findings (GeneRIF, showing 1)
- SMAD4 Loss Induces c-MYC-Mediated NLE1 Upregulation to Support Protein Biosynthesis, Colorectal Cancer Growth, and Metastasis. (PMID:36219392)
Cross-species orthologs
5 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | nle1 | ENSDARG00000057105 |
| mus_musculus | Nle1 | ENSMUSG00000020692 |
| rattus_norvegicus | Nle1 | ENSRNOG00000008287 |
| drosophila_melanogaster | Nle | FBGN0021874 |
| caenorhabditis_elegans | WBGENE00021074 |
Protein
Protein identifiers
Notchless protein homolog 1 — Q9NVX2 (reviewed: Q9NVX2)
All UniProt accessions (5): Q9NVX2, A0A0A0MRH0, K7EK23, K7EN33, K7ERN7
UniProt curated annotations — full annotation on UniProt →
Function. Plays a role in regulating Notch activity. Plays a role in regulating the expression of CDKN1A and several members of the Wnt pathway, probably via its effects on Notch activity. Required during embryogenesis for inner mass cell survival.
Subunit / interactions. Associates with the pre-60S ribosomal particle. Interacts (via WD repeats) with uL18. Interacts (via UBL domain) with MDN1 (via VWFA/MIDAS domain).
Subcellular location. Nucleus. Nucleolus.
Similarity. Belongs to the NLE1/RSA4 family.
Isoforms (2)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q9NVX2-1 | 1 | yes |
| Q9NVX2-2 | 2 |
RefSeq proteins (2): NP_001014445, NP_060566* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR001632 | WD40_G-protein_beta-like | Domain |
| IPR001680 | WD40_rpt | Repeat |
| IPR012972 | NLE | Domain |
| IPR015943 | WD40/YVTN_repeat-like_dom_sf | Homologous_superfamily |
| IPR019775 | WD40_repeat_CS | Conserved_site |
| IPR020472 | WD40_PAC1 | Repeat |
| IPR036322 | WD40_repeat_dom_sf | Homologous_superfamily |
Pfam: PF00400, PF08154
UniProt features (26 total): repeat 8, sequence variant 5, strand 4, modified residue 2, helix 2, initiator methionine 1, chain 1, region of interest 1, splice variant 1, sequence conflict 1
Structure
Experimental structures (PDB)
14 structures.
| PDB | Method | Resolution (Å) |
|---|---|---|
| 6WAJ | X-RAY DIFFRACTION | 1.9 |
| 8QL1 | X-RAY DIFFRACTION | 2.3 |
| 8FL3 | ELECTRON MICROSCOPY | 2.53 |
| 8FL2 | ELECTRON MICROSCOPY | 2.67 |
| 8RL2 | ELECTRON MICROSCOPY | 2.84 |
| 8FL4 | ELECTRON MICROSCOPY | 2.89 |
| 8FL0 | ELECTRON MICROSCOPY | 2.91 |
| 9QIW | ELECTRON MICROSCOPY | 3.04 |
| 8INK | ELECTRON MICROSCOPY | 3.2 |
| 8IPD | ELECTRON MICROSCOPY | 3.2 |
| 8IPY | ELECTRON MICROSCOPY | 3.2 |
| 8IR1 | ELECTRON MICROSCOPY | 3.3 |
| 8IR3 | ELECTRON MICROSCOPY | 3.5 |
| 8IPX | ELECTRON MICROSCOPY | 4.3 |
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q9NVX2-F1 | 93.94 | 0.86 |
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 (2): 2, 79
Function
Pathways and Gene Ontology
Reactome pathways
0 pathways
MSigDB gene sets: 166 (showing top):
GOBP_RIBOSOME_BIOGENESIS, GOBP_EMBRYO_DEVELOPMENT_ENDING_IN_BIRTH_OR_EGG_HATCHING, GOBP_EPITHELIUM_DEVELOPMENT, GOBP_SKELETAL_SYSTEM_DEVELOPMENT, SHEPARD_CRASH_AND_BURN_MUTANT_UP, GOBP_REGULATION_OF_WNT_SIGNALING_PATHWAY, GOBP_BLASTOCYST_FORMATION, MUELLER_PLURINET, GOBP_ANIMAL_ORGAN_MORPHOGENESIS, GOBP_IN_UTERO_EMBRYONIC_DEVELOPMENT, GOBP_CANONICAL_WNT_SIGNALING_PATHWAY, GOBP_ANTERIOR_POSTERIOR_PATTERN_SPECIFICATION, GOBP_NEGATIVE_REGULATION_OF_CELL_CYCLE, GOBP_SOMITOGENESIS, GOBP_REGULATION_OF_CELL_CYCLE
GO Biological Process (11): mitotic cell cycle (GO:0000278), somitogenesis (GO:0001756), kidney development (GO:0001822), inner cell mass cell differentiation (GO:0001826), Notch signaling pathway (GO:0007219), regulation of Notch signaling pathway (GO:0008593), ribosomal large subunit biogenesis (GO:0042273), negative regulation of mitotic cell cycle (GO:0045930), skeletal system morphogenesis (GO:0048705), hematopoietic stem cell homeostasis (GO:0061484), positive regulation of canonical Wnt signaling pathway (GO:0090263)
GO Molecular Function (1): 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 |
|---|---|
| nuclear lumen | 2 |
| cell cycle | 1 |
| mitotic nuclear division | 1 |
| anterior/posterior pattern specification | 1 |
| segmentation | 1 |
| chordate embryonic development | 1 |
| anatomical structure formation involved in morphogenesis | 1 |
| somite development | 1 |
| animal organ development | 1 |
| renal system development | 1 |
| blastocyst formation | 1 |
| cell differentiation | 1 |
| cell surface receptor signaling pathway | 1 |
| Notch signaling pathway | 1 |
| regulation of signal transduction | 1 |
| ribonucleoprotein complex biogenesis | 1 |
| ribosome biogenesis | 1 |
| mitotic cell cycle | 1 |
| regulation of mitotic cell cycle | 1 |
| negative regulation of cell cycle | 1 |
| skeletal system development | 1 |
| animal organ morphogenesis | 1 |
| homeostasis of number of cells | 1 |
| positive regulation of Wnt signaling pathway | 1 |
| canonical Wnt signaling pathway | 1 |
| regulation of canonical Wnt signaling pathway | 1 |
| binding | 1 |
| cellular anatomical structure | 1 |
| intracellular membraneless organelle | 1 |
| intracellular membrane-bounded organelle | 1 |
Protein interactions and networks
STRING
2156 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| NLE1 | NOP56 | O00567 | 551 |
| NLE1 | MDN1 | Q9NU22 | 509 |
| NLE1 | RSL24D1 | Q9UHA3 | 476 |
| NLE1 | ZNF529 | Q6P280 | 466 |
| NLE1 | GNL3L | Q9NVN8 | 457 |
| NLE1 | GNL3 | Q9BVP2 | 453 |
| NLE1 | BOP1 | Q14137 | 443 |
| NLE1 | WDR18 | Q9BV38 | 437 |
| NLE1 | WDR12 | Q9GZL7 | 430 |
| NLE1 | NOP53 | Q9NZM5 | 429 |
| NLE1 | SRPRB | Q9Y5M8 | 425 |
| NLE1 | NIP7 | Q9Y221 | 412 |
| NLE1 | TAAR1 | Q96RJ0 | 406 |
| NLE1 | NMD3 | Q96D46 | 405 |
| NLE1 | NVL | O15381 | 403 |
IntAct
70 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| CCT2 | TXNDC9 | psi-mi:“MI:0914”(association) | 0.730 |
| NOL12 | RRP8 | psi-mi:“MI:0914”(association) | 0.640 |
| MECP2 | KPNA3 | psi-mi:“MI:0914”(association) | 0.640 |
| NSA2 | GNL2 | psi-mi:“MI:0914”(association) | 0.640 |
| NPM1 | MPHOSPH10 | psi-mi:“MI:0914”(association) | 0.610 |
| PLEKHO1 | UBA6 | psi-mi:“MI:0914”(association) | 0.530 |
| NSA2 | TYW5 | psi-mi:“MI:0914”(association) | 0.530 |
| MECP2 | GTPBP10 | psi-mi:“MI:0914”(association) | 0.530 |
| RPL18 | NOP56 | psi-mi:“MI:0914”(association) | 0.530 |
| MACROH2A2 | PPM1G | psi-mi:“MI:0914”(association) | 0.530 |
| RPL30 | RRP8 | psi-mi:“MI:0914”(association) | 0.530 |
| IGHMBP2 | THAP12 | psi-mi:“MI:0914”(association) | 0.530 |
| MAGEB2 | POLRMT | psi-mi:“MI:0914”(association) | 0.530 |
| RBM4 | NVL | psi-mi:“MI:0914”(association) | 0.530 |
| NIFK | RSL1D1 | psi-mi:“MI:0914”(association) | 0.530 |
| THAP7 | RPS27A | psi-mi:“MI:0914”(association) | 0.530 |
| GNL3 | NLE1 | psi-mi:“MI:0915”(physical association) | 0.500 |
| NLE1 | CHRM5 | psi-mi:“MI:0915”(physical association) | 0.370 |
| EWSR1 | NLE1 | psi-mi:“MI:0915”(physical association) | 0.370 |
| Spire2 | KLF4 | psi-mi:“MI:0914”(association) | 0.350 |
| NOP9 | ENDOV | psi-mi:“MI:0914”(association) | 0.350 |
| CHMP4B | psi-mi:“MI:0914”(association) | 0.350 | |
| JUN | TPM3 | psi-mi:“MI:0914”(association) | 0.350 |
| RRP1B | ZNF785 | psi-mi:“MI:0914”(association) | 0.350 |
| CUL3 | PXDNL | psi-mi:“MI:0914”(association) | 0.350 |
BioGRID (578): NLE1 (Affinity Capture-MS), NLE1 (Affinity Capture-MS), NLE1 (Affinity Capture-MS), NLE1 (Affinity Capture-MS), NLE1 (Affinity Capture-MS), NLE1 (Two-hybrid), GBE1 (Co-fractionation), HNRNPH3 (Co-fractionation), MTHFD1 (Co-fractionation), NLE1 (Co-fractionation), NLE1 (Co-fractionation), SPAG7 (Co-fractionation), NLE1 (Affinity Capture-MS), NLE1 (Affinity Capture-Western), NLE1 (Affinity Capture-MS)
ESM2 similar proteins: A0AUS0, A4R2Q6, A5DL92, A5WVX1, A7RHG8, A8IR43, A8IRK7, A8QB65, A8XL02, A9UP22, B2B5V0, B3MJV8, B3N534, B3RQN1, B4GT01, B4JPT9, B4KKN1, B4LS78, B4P116, B5DG67, B7PY76, G0SFB5, P49177, P61480, P91343, Q0CLJ4, Q0VC24, Q29KQ0, Q2GXT0, Q58D20, Q5BJ90, Q5FVN8, Q5REE6, Q5RFF8, Q6CEW7, Q6NX08, Q756D0, Q7QJ33, Q8H594, Q8VEJ4
Diamond homologs: A0A223GEB2, A1L271, A2QPZ4, A4R3M4, A6H603, A6RRD4, B2VWG7, B3MHX6, B3MJV8, B4GT01, B4JPT9, B5DG67, B8N9H4, C0S902, C1GB49, C4R6H3, C4YPI7, C5GVJ9, C5JD40, E3LB80, G0S8H7, G1SJB4, G4MQX3, O14775, O18640, O24076, O24456, O42248, O42249, O94527, P0CS34, P0CS35, P25382, P25387, P38011, P40968, P46800, P49026, P49027, P52287
SIGNOR signaling
0 interactions.
Enriched among interaction partners
Reactome pathways and GO biological processes over-represented among this gene’s 79 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 | 7 | 18.1× | 1e-05 |
| Viral mRNA Translation | 7 | 18.1× | 1e-05 |
| PELO:HBS1L and ABCE1 dissociate a ribosome on a non-stop mRNA | 7 | 17.9× | 1e-05 |
| Selenocysteine synthesis | 7 | 17.2× | 1e-05 |
| Eukaryotic Translation Termination | 7 | 17.2× | 1e-05 |
| Nonsense Mediated Decay (NMD) independent of the Exon Junction Complex (EJC) | 7 | 16.8× | 1e-05 |
| ZNF598 and the Ribosome-associated Quality Trigger (RQT) complex dissociate a ribosome stalled on a no-go mRNA | 7 | 16.8× | 1e-05 |
| Formation of a pool of free 40S subunits | 7 | 16.0× | 2e-05 |
GO biological processes:
| GO term | Partners | Fold | FDR |
|---|---|---|---|
| cytoplasmic translation | 7 | 17.5× | 3e-05 |
| rRNA processing | 8 | 15.3× | 2e-05 |
| translation | 7 | 9.7× | 1e-03 |
Disease & clinical
Clinical variants and AI predictions
ClinVar
83 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 64 |
| Likely benign | 3 |
| Benign | 1 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
1668 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 17:35129569:C:G | donor_gain | 1.0000 |
| 17:35129575:GAGC:G | donor_gain | 1.0000 |
| 17:35129578:C:G | donor_gain | 1.0000 |
| 17:35129606:GT:G | donor_gain | 1.0000 |
| 17:35129659:G:GG | donor_gain | 1.0000 |
| 17:35130278:TCA:T | acceptor_loss | 1.0000 |
| 17:35130279:CAGT:C | acceptor_loss | 1.0000 |
| 17:35130280:A:AG | acceptor_gain | 1.0000 |
| 17:35130280:AGT:A | acceptor_loss | 1.0000 |
| 17:35130281:G:A | acceptor_loss | 1.0000 |
| 17:35130281:G:GA | acceptor_gain | 1.0000 |
| 17:35130281:GTTT:G | acceptor_gain | 1.0000 |
| 17:35133169:A:AC | donor_gain | 1.0000 |
| 17:35133169:ACAT:A | donor_gain | 1.0000 |
| 17:35133170:C:CC | donor_gain | 1.0000 |
| 17:35133170:CAT:C | donor_gain | 1.0000 |
| 17:35133170:CATC:C | donor_gain | 1.0000 |
| 17:35133334:CCTA:C | donor_loss | 1.0000 |
| 17:35133336:TACC:T | donor_loss | 1.0000 |
| 17:35133337:A:AC | donor_gain | 1.0000 |
| 17:35133337:A:T | donor_loss | 1.0000 |
| 17:35133338:C:CC | donor_gain | 1.0000 |
| 17:35133338:CCT:C | donor_gain | 1.0000 |
| 17:35133496:TAC:T | acceptor_gain | 1.0000 |
| 17:35133497:ACCTG:A | acceptor_loss | 1.0000 |
| 17:35133499:C:CC | acceptor_gain | 1.0000 |
| 17:35133505:C:CT | acceptor_gain | 1.0000 |
| 17:35133505:C:T | acceptor_gain | 1.0000 |
| 17:35133506:A:T | acceptor_gain | 1.0000 |
| 17:35134970:TGA:T | donor_gain | 1.0000 |
AlphaMissense
3153 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 17:35133197:A:C | S473R | 1.000 |
| 17:35133197:A:T | S473R | 1.000 |
| 17:35133199:T:G | S473R | 1.000 |
| 17:35133226:A:G | W464R | 1.000 |
| 17:35133226:A:T | W464R | 1.000 |
| 17:35133420:G:C | S431R | 1.000 |
| 17:35133420:G:T | S431R | 1.000 |
| 17:35133422:T:G | S431R | 1.000 |
| 17:35135296:A:C | S389R | 1.000 |
| 17:35135296:A:T | S389R | 1.000 |
| 17:35135298:T:G | S389R | 1.000 |
| 17:35135420:G:A | S348F | 1.000 |
| 17:35137166:G:C | S221R | 1.000 |
| 17:35137166:G:T | S221R | 1.000 |
| 17:35137168:T:G | S221R | 1.000 |
| 17:35139302:A:C | S131R | 1.000 |
| 17:35139302:A:T | S131R | 1.000 |
| 17:35139304:T:G | S131R | 1.000 |
| 17:35132448:A:G | W483R | 0.999 |
| 17:35132448:A:T | W483R | 0.999 |
| 17:35133192:C:T | G475E | 0.999 |
| 17:35133195:C:T | G474D | 0.999 |
| 17:35133221:A:C | S465R | 0.999 |
| 17:35133221:A:T | S465R | 0.999 |
| 17:35133223:T:G | S465R | 0.999 |
| 17:35133358:A:G | L452P | 0.999 |
| 17:35133392:A:G | W441R | 0.999 |
| 17:35133392:A:T | W441R | 0.999 |
| 17:35133396:C:A | K439N | 0.999 |
| 17:35133396:C:G | K439N | 0.999 |
dbSNP variants (sampled 300 via entrez): RS1000163855 (17:35130645 G>A), RS1000190657 (17:35141190 A>G), RS1000318372 (17:35136458 C>T), RS1000365527 (17:35134995 T>C), RS1000425693 (17:35130934 C>G,T), RS1000649241 (17:35136717 G>A), RS1000679543 (17:35133874 C>T), RS1000822510 (17:35140085 G>A), RS1000896574 (17:35141490 G>A), RS1000919481 (17:35139814 A>C), RS1001054646 (17:35135077 A>G), RS1001423057 (17:35139851 T>C), RS1001455680 (17:35139559 TC>T), RS1001649997 (17:35134123 A>T), RS1001985352 (17:35132960 G>A)
Disease associations
OMIM: gene MIM:620924 | 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
41 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| bisphenol A | decreases expression, affects cotreatment, increases expression | 2 |
| sodium arsenite | decreases expression, increases expression | 2 |
| Estradiol | increases expression | 2 |
| aristolochic acid I | increases expression | 1 |
| triphenyl phosphate | affects expression | 1 |
| deoxynivalenol | increases expression | 1 |
| trichostatin A | affects expression | 1 |
| potassium chromate(VI) | increases expression | 1 |
| nivalenol | increases expression | 1 |
| di-n-butylphosphoric acid | affects expression | 1 |
| perfluorooctane sulfonic acid | increases expression | 1 |
| CGP 52608 | affects binding, increases reaction | 1 |
| perfluoro-n-nonanoic acid | increases expression | 1 |
| 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide | affects cotreatment, decreases expression | 1 |
| nutlin 3 | affects cotreatment, increases secretion | 1 |
| enzalutamide | affects expression | 1 |
| LDN 193189 | affects cotreatment, decreases expression | 1 |
| Temozolomide | increases expression | 1 |
| Cisplatin | decreases expression, decreases reaction | 1 |
| Dactinomycin | affects cotreatment, increases secretion | 1 |
| Dichlorodiphenyl Dichloroethylene | increases expression | 1 |
| Dexamethasone | affects cotreatment, increases expression | 1 |
| Doxorubicin | decreases expression | 1 |
| Indomethacin | affects cotreatment, increases expression | 1 |
| Ivermectin | decreases expression | 1 |
| Phenobarbital | affects expression | 1 |
| Piroxicam | decreases expression, decreases reaction | 1 |
| Quercetin | increases expression | 1 |
| Ribonucleotides | affects binding | 1 |
| Silicon Dioxide | 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.