DDA1
gene geneOn this page
Also known as PCIA1MGC2594
Summary
DDA1 (DET1 and DDB1 associated 1, HGNC:28360) is a protein-coding gene on chromosome 19p13.11, encoding DET1- and DDB1-associated protein 1 (Q9BW61). Functions as a component of numerous distinct DCX (DDB1-CUL4-X-box) E3 ubiquitin-protein ligase complexes which mediate the ubiquitination and subsequent proteasomal degradation of target proteins. It is a selective cancer dependency (DepMap: 21.3% of cell lines).
Involved in protein polyubiquitination. Part of Cul4-RING E3 ubiquitin ligase complex.
Source: NCBI Gene 79016 — RefSeq curated summary.
At a glance
- GWAS associations: 2
- Clinical variants (ClinVar): 15 total
- Cancer dependency (DepMap): dependent in 21.3% of screened cell lines
- MANE Select transcript:
NM_024050
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:28360 |
| Approved symbol | DDA1 |
| Name | DET1 and DDB1 associated 1 |
| Location | 19p13.11 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | PCIA1, MGC2594 |
| Ensembl gene | ENSG00000130311 |
| Ensembl biotype | protein_coding |
| Entrez | 79016 |
Gene structure
Transcript identifiers
Ensembl transcripts: 7 — 3 protein_coding, 2 nonsense_mediated_decay, 2 retained_intron
ENST00000359866, ENST00000593466, ENST00000594501, ENST00000596582, ENST00000596925, ENST00000858242, ENST00000935014
RefSeq mRNA: 1 — MANE Select: NM_024050
NM_024050
CCDS: CCDS12357
Canonical transcript exons
ENST00000359866 — 5 exons
| Exon | Start | End |
|---|---|---|
| ENSE00000895505 | 17314338 | 17314389 |
| ENSE00000895509 | 17315934 | 17315995 |
| ENSE00001322678 | 17309563 | 17309657 |
| ENSE00001400032 | 17319546 | 17323298 |
| ENSE00003516491 | 17314023 | 17314103 |
Expression profiles
Bgee: expression breadth ubiquitous, 241 present calls, max score 96.60.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 67.1690 / max 288.0773, expressed in 1825 samples.
FANTOM5 promoters (1 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 174493 | 67.1690 | 1825 |
Top tissues by expression
280 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| anterior cingulate cortex | UBERON:0009835 | 96.60 | gold quality |
| cingulate cortex | UBERON:0003027 | 96.53 | gold quality |
| prefrontal cortex | UBERON:0000451 | 96.51 | gold quality |
| left testis | UBERON:0004533 | 96.29 | gold quality |
| right testis | UBERON:0004534 | 96.17 | gold quality |
| monocyte | CL:0000576 | 96.09 | gold quality |
| mononuclear cell | CL:0000842 | 95.97 | gold quality |
| right frontal lobe | UBERON:0002810 | 95.83 | gold quality |
| stromal cell of endometrium | CL:0002255 | 95.47 | gold quality |
| leukocyte | CL:0000738 | 95.41 | gold quality |
| amygdala | UBERON:0001876 | 95.06 | gold quality |
| mucosa of transverse colon | UBERON:0004991 | 94.77 | gold quality |
| dorsolateral prefrontal cortex | UBERON:0009834 | 94.60 | gold quality |
| C1 segment of cervical spinal cord | UBERON:0006469 | 94.51 | gold quality |
| nucleus accumbens | UBERON:0001882 | 94.29 | gold quality |
| frontal cortex | UBERON:0001870 | 94.24 | gold quality |
| testis | UBERON:0000473 | 94.05 | gold quality |
| hypothalamus | UBERON:0001898 | 94.02 | gold quality |
| caudate nucleus | UBERON:0001873 | 93.99 | gold quality |
| apex of heart | UBERON:0002098 | 93.96 | gold quality |
| popliteal artery | UBERON:0002250 | 93.92 | gold quality |
| tibial artery | UBERON:0007610 | 93.92 | gold quality |
| neocortex | UBERON:0001950 | 93.91 | gold quality |
| Brodmann (1909) area 9 | UBERON:0013540 | 93.83 | gold quality |
| left adrenal gland | UBERON:0001234 | 93.71 | gold quality |
| right adrenal gland cortex | UBERON:0035827 | 93.61 | gold quality |
| aorta | UBERON:0000947 | 93.60 | gold quality |
| left coronary artery | UBERON:0001626 | 93.52 | gold quality |
| adult organism | UBERON:0007023 | 93.51 | gold quality |
| thoracic aorta | UBERON:0001515 | 93.48 | gold quality |
Single-cell (SCXA)
Detected in 4 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | yes | 8.95 |
| E-MTAB-6386 | no | 192.56 |
| E-GEOD-110499 | no | 106.26 |
| E-GEOD-125970 | no | 3.40 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
150 targeting DDA1, 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-4533 | 100.00 | 69.48 | 2758 |
| HSA-MIR-3613-3P | 100.00 | 76.36 | 7965 |
| HSA-MIR-4673 | 100.00 | 66.64 | 1490 |
| HSA-MIR-5692A | 100.00 | 74.40 | 6850 |
| HSA-MIR-6867-5P | 100.00 | 82.21 | 3464 |
| HSA-MIR-4455 | 100.00 | 65.48 | 1587 |
| HSA-MIR-4476 | 100.00 | 68.18 | 2030 |
| HSA-MIR-6876-5P | 100.00 | 67.68 | 2126 |
| HSA-MIR-4692 | 100.00 | 67.32 | 2066 |
| HSA-MIR-6870-5P | 99.99 | 68.55 | 2115 |
| HSA-MIR-371B-5P | 99.99 | 75.34 | 4759 |
| HSA-MIR-4514 | 99.99 | 67.10 | 1870 |
| HSA-MIR-6077 | 99.99 | 68.04 | 2299 |
| HSA-MIR-373-5P | 99.98 | 75.36 | 4753 |
| HSA-MIR-616-5P | 99.98 | 75.58 | 4775 |
| HSA-MIR-4645-5P | 99.98 | 65.81 | 1284 |
| HSA-MIR-512-3P | 99.97 | 67.35 | 1049 |
| HSA-MIR-7111-5P | 99.97 | 68.48 | 2062 |
| HSA-MIR-4723-5P | 99.97 | 68.70 | 2034 |
| HSA-MIR-5698 | 99.97 | 68.49 | 2029 |
| HSA-MIR-548AJ-3P | 99.96 | 73.38 | 5345 |
| HSA-MIR-548X-3P | 99.96 | 73.38 | 5345 |
| HSA-MIR-495-3P | 99.96 | 72.81 | 4197 |
| HSA-MIR-5688 | 99.96 | 73.23 | 4504 |
| HSA-MIR-548J-3P | 99.94 | 72.61 | 4881 |
| HSA-MIR-4525 | 99.94 | 64.38 | 675 |
| HSA-MIR-5010-5P | 99.94 | 64.11 | 705 |
| 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 |
Functional genomics
DepMap (CRISPR cell-line fitness): dependent in 21.3% of screened cell lines.
Literature-anchored findings (GeneRIF, showing 6)
- PCIA1 gene expression correlates with tumor formation, invasion and metastasis (PMID:17557237)
- Cells depleted of Dda1 spontaneously accumulated double-stranded DNA breaks in a similar way to Cul4A-, Cul4B- or Wdr23-depleted cells, indicating that Dda1 interacts physically and functionally with cullin-RING E3 ligases complexes. (PMID:19295130)
- Data indicate that DET1- and DDB1-associated protein 1 (DDA1)-mediated tumor progression is associated with the activation of the NF-kappa B (NFkappaB)/COP9 signalosome 2(CSN2)/glycogen synthase kinase3beta (GSK3beta) pathway. (PMID:26942699)
- the c-Abl non-receptor kinase phosphorylates DDB1 at residue Tyr-316 to recruit a small regulatory protein, DDA1, leading to increased substrate ubiquitination (PMID:28087699)
- The results indicate that DDA1 promotes lung cancer progression, potentially through promoting cyclins and cell cycle progression. (PMID:28211159)
- surveyed the spectrum of G protein coupling of dDA1 and Damb, and we confirmed that both receptors can couple to Gs to stimulate cAMP synthesis (PMID:29166600)
Cross-species orthologs
4 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | dda1 | ENSDARG00000076074 |
| mus_musculus | Dda1 | ENSMUSG00000074247 |
| rattus_norvegicus | Dda1 | ENSRNOG00000039417 |
| drosophila_melanogaster | CG31855 | FBGN0051855 |
Protein
Protein identifiers
DET1- and DDB1-associated protein 1 — Q9BW61 (reviewed: Q9BW61)
Alternative names: Placenta cross-immune reaction antigen 1
All UniProt accessions (1): Q9BW61
UniProt curated annotations — full annotation on UniProt →
Function. Functions as a component of numerous distinct DCX (DDB1-CUL4-X-box) E3 ubiquitin-protein ligase complexes which mediate the ubiquitination and subsequent proteasomal degradation of target proteins. In the DCX complexes, acts as a scaffolding subunit required to stabilize the complex.
Subunit / interactions. Component of numerous DCX (DDB1-CUL4-X-box) E3 ubiquitin-protein ligase complexes which consist of a core of DDB1, cullin-4 (CUL4A or CUL4B), DDA1 and RBX1. Component of the DCX(DCAF15) complex, also named CLR4(DCAF15) complex, composed of DCAF15, DDB1, cullin-4 (CUL4A or CUL4B), DDA1 and RBX1. Part of the DDD core complex containing DET1, DDA1 and DDB1; the DDD core complex recruits a specific UBE2E enzyme, such as UBE2E1, UBE2E2 UBE2E3, to form specific DDD-E2 complexes.
Pathway. Protein modification; protein ubiquitination.
Similarity. Belongs to the DDA1 family.
RefSeq proteins (1): NP_076955* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR018276 | DDA1_dom | Domain |
| IPR033575 | DDA1-like | Family |
Pfam: PF10172
UniProt features (15 total): turn 3, modified residue 3, helix 2, strand 2, compositionally biased region 2, initiator methionine 1, chain 1, region of interest 1
Structure
Experimental structures (PDB)
30 structures.
| PDB | Method | Resolution (Å) |
|---|---|---|
| 9BZ0 | ELECTRON MICROSCOPY | 1.9 |
| 8G46 | ELECTRON MICROSCOPY | 2.2 |
| 6UD7 | X-RAY DIFFRACTION | 2.3 |
| 6UE5 | X-RAY DIFFRACTION | 2.61 |
| 8TL6 | ELECTRON MICROSCOPY | 2.63 |
| 9LTJ | ELECTRON MICROSCOPY | 2.65 |
| 9BJZ | ELECTRON MICROSCOPY | 2.83 |
| 6PAI | X-RAY DIFFRACTION | 2.9 |
| 6Q0R | X-RAY DIFFRACTION | 2.9 |
| 6Q0V | X-RAY DIFFRACTION | 2.9 |
| 6Q0W | X-RAY DIFFRACTION | 2.9 |
| 9DHD | ELECTRON MICROSCOPY | 2.9 |
| 9LTO | ELECTRON MICROSCOPY | 2.92 |
| 9LTL | ELECTRON MICROSCOPY | 2.93 |
| 9LTR | ELECTRON MICROSCOPY | 3.03 |
| 9C5U | ELECTRON MICROSCOPY | 3.05 |
| 6DSZ | X-RAY DIFFRACTION | 3.09 |
| 8ROY | ELECTRON MICROSCOPY | 3.1 |
| 9LTW | ELECTRON MICROSCOPY | 3.25 |
| 9LTZ | ELECTRON MICROSCOPY | 3.26 |
| 8ROX | ELECTRON MICROSCOPY | 3.3 |
| 9S3R | ELECTRON MICROSCOPY | 3.3 |
| 9C5V | ELECTRON MICROSCOPY | 3.36 |
| 8QH5 | ELECTRON MICROSCOPY | 3.4 |
| 9FD2 | ELECTRON MICROSCOPY | 3.4 |
| 6SJ7 | ELECTRON MICROSCOPY | 3.54 |
| 9LU1 | ELECTRON MICROSCOPY | 3.62 |
| 9W90 | ELECTRON MICROSCOPY | 3.7 |
| 9M0Y | ELECTRON MICROSCOPY | 4.25 |
| 9LUL | ELECTRON MICROSCOPY | 4.99 |
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q9BW61-F1 | 67.25 | 0.00 |
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 (3): 2, 33, 95
Function
Pathways and Gene Ontology
Reactome pathways
1 pathways
| ID | Pathway |
|---|---|
| R-HSA-8951664 | Neddylation |
MSigDB gene sets: 167 (showing top):
GOBP_REGULATION_OF_CELL_ACTIVATION, GOBP_REGULATION_OF_PROTEASOMAL_UBIQUITIN_DEPENDENT_PROTEIN_CATABOLIC_PROCESS, MODULE_169, GOBP_POSITIVE_REGULATION_OF_PROTEIN_CATABOLIC_PROCESS, GOBP_MACROMOLECULE_CATABOLIC_PROCESS, GTTAAAG_MIR302B, GGGTGGRR_PAX4_03, RICKMAN_METASTASIS_DN, RICKMAN_TUMOR_DIFFERENTIATED_WELL_VS_POORLY_DN, GOBP_REGULATION_OF_NATURAL_KILLER_CELL_ACTIVATION, GOBP_REGULATION_OF_CATABOLIC_PROCESS, GOBP_POSITIVE_REGULATION_OF_CATABOLIC_PROCESS, BYSTRYKH_HEMATOPOIESIS_STEM_CELL_AND_BRAIN_QTL_CIS, GOBP_REGULATION_OF_PROTEIN_CATABOLIC_PROCESS, GOBP_POST_TRANSLATIONAL_PROTEIN_MODIFICATION
GO Biological Process (4): protein polyubiquitination (GO:0000209), positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436), protein ubiquitination (GO:0016567), regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032434)
GO Molecular Function (1): protein binding (GO:0005515)
GO Cellular Component (2): nucleoplasm (GO:0005654), Cul4-RING E3 ubiquitin ligase complex (GO:0080008)
Reactome top-level categories
Rollup of top-1 pathways:
| Category | Pathways |
|---|---|
| Post-translational protein modification | 1 |
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| proteasome-mediated ubiquitin-dependent protein catabolic process | 2 |
| protein ubiquitination | 1 |
| regulation of proteasomal ubiquitin-dependent protein catabolic process | 1 |
| positive regulation of proteasomal protein catabolic process | 1 |
| positive regulation of ubiquitin-dependent protein catabolic process | 1 |
| protein modification by small protein conjugation | 1 |
| regulation of proteasomal protein catabolic process | 1 |
| regulation of ubiquitin-dependent protein catabolic process | 1 |
| binding | 1 |
| nuclear lumen | 1 |
| cellular anatomical structure | 1 |
| cullin-RING ubiquitin ligase complex | 1 |
Protein interactions and networks
STRING
774 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| DDA1 | DDB1 | Q16531 | 992 |
| DDA1 | DET1 | Q7L5Y6 | 978 |
| DDA1 | CUL4A | Q13619 | 970 |
| DDA1 | DCAF15 | Q66K64 | 832 |
| DDA1 | CUL4B | Q13620 | 821 |
| DDA1 | RBM39 | Q14498 | 771 |
| DDA1 | DCAF1 | Q9Y4B6 | 745 |
| DDA1 | RBX1 | P62877 | 559 |
| DDA1 | HLTF | Q14527 | 478 |
| DDA1 | GPATCH8 | Q9UKJ3 | 475 |
| DDA1 | ENY2 | Q9NPA8 | 449 |
| DDA1 | EME2 | A4GXA9 | 444 |
| DDA1 | DCAF17 | Q5H9S7 | 425 |
| DDA1 | MUS81 | Q96NY9 | 418 |
| DDA1 | TET2 | Q6N021 | 376 |
IntAct
158 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| FOSL2 | JUN | psi-mi:“MI:0914”(association) | 0.930 |
| LLGL2 | PRKCI | psi-mi:“MI:0914”(association) | 0.890 |
| CUL4B | COPS2 | psi-mi:“MI:0914”(association) | 0.790 |
| DDA1 | DDB1 | psi-mi:“MI:0407”(direct interaction) | 0.780 |
| RFXANK | RFXAP | psi-mi:“MI:0914”(association) | 0.780 |
| COPS6 | RHOBTB1 | psi-mi:“MI:0914”(association) | 0.730 |
| DYNLL1 | BLTP3B | psi-mi:“MI:0914”(association) | 0.730 |
| CUL4A | COPS2 | psi-mi:“MI:0914”(association) | 0.640 |
| DYNLL2 | BLTP3B | psi-mi:“MI:0914”(association) | 0.640 |
| DDA1 | AGTRAP | psi-mi:“MI:0915”(physical association) | 0.560 |
| DDA1 | CMTM5 | psi-mi:“MI:0915”(physical association) | 0.560 |
| CMTM5 | DDA1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| PKNOX2 | DDA1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| RDH10 | DDA1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| PRKN | DDA1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| DCAF11 | GNPAT | psi-mi:“MI:0914”(association) | 0.530 |
| PRKCZ | IPO5 | psi-mi:“MI:0914”(association) | 0.530 |
BioGRID (758): DDB1 (Affinity Capture-Western), CUL4A (Affinity Capture-Western), CUL4B (Affinity Capture-Western), DDA1 (Two-hybrid), CMTM5 (Two-hybrid), DDA1 (Affinity Capture-Western), DDA1 (Affinity Capture-Western), DDA1 (Affinity Capture-Western), DET1 (Affinity Capture-Western), DDA1 (Affinity Capture-MS), DDA1 (Affinity Capture-MS), DDB1 (Co-fractionation), VPRBP (Co-fractionation), DDA1 (Two-hybrid), DDA1 (Affinity Capture-MS)
ESM2 similar proteins: A3CEM4, A6NGY3, A9CB88, B2ZCQ0, B3LVF9, B3P0Q4, B4HEN5, B4K843, B4LY66, B4N943, B4PST7, B4QZV5, C9K7C7, F4KIH4, O16224, O41804, O70903, O89085, O89945, O91087, P03238, P0A3T0, P0A3T1, P12597, P13623, P24103, P27970, P28953, P28989, P33632, P36356, P36713, P50785, P55924, P56280, P85112, Q09340, Q09410, Q12379, Q5E9A9
Diamond homologs: Q5BL73, Q5E9A9, Q5RD86, Q5U550, Q5ZK14, Q7T2A3, Q9BW61, Q9D9Z5
SIGNOR signaling
0 interactions.
Enriched among interaction partners
Reactome pathways and GO biological processes over-represented among this gene’s 173 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 |
|---|---|---|---|
| DNA Damage Recognition in GG-NER | 10 | 25.5× | 1e-09 |
| Formation of TC-NER Pre-Incision Complex | 10 | 18.9× | 2e-08 |
| Recognition of DNA damage by PCNA-containing replication complex | 5 | 17.0× | 1e-03 |
| Dual Incision in GG-NER | 6 | 13.9× | 7e-04 |
| Formation of Incision Complex in GG-NER | 6 | 13.6× | 7e-04 |
| Transcription-Coupled Nucleotide Excision Repair (TC-NER) | 5 | 11.9× | 5e-03 |
| Neddylation | 26 | 11.0× | 2e-17 |
| Dual incision in TC-NER | 6 | 9.3× | 4e-03 |
GO biological processes:
| GO term | Partners | Fold | FDR |
|---|---|---|---|
| regulation of protein neddylation | 5 | 30.8× | 1e-04 |
| protein neddylation | 5 | 23.1× | 4e-04 |
| protein ubiquitination | 34 | 9.3× | 2e-20 |
| proteasome-mediated ubiquitin-dependent protein catabolic process | 20 | 6.9× | 6e-09 |
| protein polyubiquitination | 9 | 6.8× | 9e-04 |
| ubiquitin-dependent protein catabolic process | 11 | 5.4× | 9e-04 |
Disease & clinical
Clinical variants and AI predictions
ClinVar
15 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 13 |
| Likely benign | 0 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
547 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 19:17309654:GATG:G | donor_gain | 1.0000 |
| 19:17309655:ATGG:A | donor_loss | 1.0000 |
| 19:17309656:TGGT:T | donor_loss | 1.0000 |
| 19:17309657:GGT:G | donor_loss | 1.0000 |
| 19:17309663:G:GT | donor_gain | 1.0000 |
| 19:17314021:A:AG | acceptor_gain | 1.0000 |
| 19:17314021:AGGC:A | acceptor_loss | 1.0000 |
| 19:17314022:G:GG | acceptor_gain | 1.0000 |
| 19:17314022:GGC:G | acceptor_gain | 1.0000 |
| 19:17314022:GGCA:G | acceptor_gain | 1.0000 |
| 19:17314104:G:GG | donor_gain | 1.0000 |
| 19:17314104:GTGA:G | donor_loss | 1.0000 |
| 19:17314336:A:AG | acceptor_gain | 1.0000 |
| 19:17314337:G:GT | acceptor_gain | 1.0000 |
| 19:17314337:GA:G | acceptor_gain | 1.0000 |
| 19:17314337:GAACC:G | acceptor_gain | 1.0000 |
| 19:17314388:GA:G | donor_gain | 1.0000 |
| 19:17314390:G:GG | donor_gain | 1.0000 |
| 19:17315996:G:GA | donor_loss | 1.0000 |
| 19:17315997:T:G | donor_loss | 1.0000 |
| 19:17319536:T:A | acceptor_gain | 1.0000 |
| 19:17319542:CCAG:C | acceptor_loss | 1.0000 |
| 19:17319544:A:AG | acceptor_gain | 1.0000 |
| 19:17319544:AGA:A | acceptor_loss | 1.0000 |
| 19:17319544:AGAAC:A | acceptor_gain | 1.0000 |
| 19:17319545:G:GG | acceptor_gain | 1.0000 |
| 19:17319545:GA:G | acceptor_gain | 1.0000 |
| 19:17319545:GAA:G | acceptor_gain | 1.0000 |
| 19:17319545:GAAC:G | acceptor_gain | 1.0000 |
| 19:17319545:GAACG:G | acceptor_gain | 1.0000 |
AlphaMissense
665 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 19:17315937:T:A | I47N | 1.000 |
| 19:17315937:T:G | I47S | 1.000 |
| 19:17315946:A:T | E50V | 1.000 |
| 19:17315958:T:A | I54N | 1.000 |
| 19:17315958:T:C | I54T | 1.000 |
| 19:17315958:T:G | I54S | 1.000 |
| 19:17315961:T:A | L55H | 1.000 |
| 19:17315961:T:C | L55P | 1.000 |
| 19:17315964:T:A | L56Q | 1.000 |
| 19:17315964:T:C | L56P | 1.000 |
| 19:17315966:C:A | R57S | 1.000 |
| 19:17315969:T:G | Y58D | 1.000 |
| 19:17315973:T:A | L59Q | 1.000 |
| 19:17315973:T:C | L59P | 1.000 |
| 19:17314042:T:C | L8P | 0.999 |
| 19:17314065:T:C | F16L | 0.999 |
| 19:17314066:T:C | F16S | 0.999 |
| 19:17314067:T:A | F16L | 0.999 |
| 19:17314067:T:G | F16L | 0.999 |
| 19:17314356:T:G | Y35D | 0.999 |
| 19:17315937:T:C | I47T | 0.999 |
| 19:17315956:C:A | N53K | 0.999 |
| 19:17315956:C:G | N53K | 0.999 |
| 19:17315957:A:T | I54F | 0.999 |
| 19:17315966:C:G | R57G | 0.999 |
| 19:17315967:G:C | R57P | 0.999 |
| 19:17315970:A:C | Y58S | 0.999 |
| 19:17315975:C:G | H60D | 0.999 |
| 19:17315979:A:C | Q61P | 0.999 |
| 19:17315982:A:C | Q62P | 0.999 |
dbSNP variants (sampled 300 via entrez): RS1000018641 (19:17312285 G>T), RS1000310237 (19:17309251 A>T), RS1000345753 (19:17314047 G>A), RS1000689099 (19:17312932 G>A), RS1000760897 (19:17313259 G>A,C), RS1001273889 (19:17318548 G>A), RS1001381720 (19:17307941 C>G), RS1001424651 (19:17313205 G>A), RS1001478947 (19:17313713 G>A), RS1001551197 (19:17313965 T>C), RS1001705172 (19:17318241 A>G,T), RS1001737667 (19:17323540 A>G), RS1001771880 (19:17323275 CAA>C), RS1001772206 (19:17308183 G>A), RS1001888098 (19:17312850 G>A)
Disease associations
OMIM: gene `` | 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 |
|---|---|---|
| GCST001795_14 | Systemic lupus erythematosus | 1.000000e-06 |
| GCST007394_2 | Mitochondrial DNA copy number | 1.000000e-14 |
EFO canonical traits (1, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0006312 | mitochondrial DNA 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 |
|---|---|---|
| sodium arsenite | increases abundance, increases expression, affects cotreatment | 2 |
| Phenylmercuric Acetate | affects cotreatment, increases expression | 2 |
| Tobacco Smoke Pollution | increases expression | 2 |
| Valproic Acid | decreases methylation, increases expression | 2 |
| aristolochic acid I | increases expression | 1 |
| FR900359 | increases phosphorylation | 1 |
| triphenyl phosphate | affects expression | 1 |
| pirinixic acid | affects binding, decreases expression, increases activity | 1 |
| bisphenol A | decreases methylation | 1 |
| beta-lapachone | increases expression | 1 |
| manganese chloride | increases expression, affects cotreatment, increases abundance | 1 |
| 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide | affects cotreatment, increases expression | 1 |
| abrine | increases expression | 1 |
| dorsomorphin | affects cotreatment, increases expression | 1 |
| (4-amino-1,4-dihydro-3-(2-pyridyl)-5-thioxo-1,2,4-triazole)copper(II) | increases expression | 1 |
| bisphenol S | increases expression, affects cotreatment | 1 |
| Resveratrol | decreases expression, affects cotreatment | 1 |
| Temozolomide | increases expression | 1 |
| Arsenic | affects cotreatment, increases abundance, increases expression | 1 |
| Atrazine | decreases expression | 1 |
| Benzo(a)pyrene | increases expression | 1 |
| Dexamethasone | affects cotreatment, increases expression | 1 |
| Diazinon | increases methylation | 1 |
| Doxorubicin | decreases expression | 1 |
| Indomethacin | affects cotreatment, increases expression | 1 |
| Manganese | increases expression, affects cotreatment, increases abundance | 1 |
| Methotrexate | increases expression | 1 |
| Plant Extracts | affects cotreatment, decreases expression | 1 |
| Smoke | decreases expression | 1 |
| 1-Methyl-3-isobutylxanthine | 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.