DDX19A
gene geneOn this page
Also known as FLJ11126
Summary
DDX19A (DEAD-box helicase 19A, HGNC:25628) is a protein-coding gene on chromosome 16q22.1, encoding ATP-dependent RNA helicase DDX19A (Q9NUU7). ATP-dependent RNA helicase involved in mRNA export from the nucleus. It is a selective cancer dependency (DepMap: 22.2% of cell lines).
Predicted to enable RNA helicase activity and mRNA binding activity. Predicted to be involved in poly(A)+ mRNA export from nucleus. Located in membrane.
Source: NCBI Gene 55308 — RefSeq curated summary.
At a glance
- GWAS associations: 4
- Clinical variants (ClinVar): 46 total
- Cancer dependency (DepMap): dependent in 22.2% of screened cell lines
- MANE Select transcript:
NM_018332
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:25628 |
| Approved symbol | DDX19A |
| Name | DEAD-box helicase 19A |
| Location | 16q22.1 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | FLJ11126 |
| Ensembl gene | ENSG00000168872 |
| Ensembl biotype | protein_coding |
| Entrez | 55308 |
Gene structure
Transcript identifiers
Ensembl transcripts: 22 — 10 protein_coding, 5 nonsense_mediated_decay, 5 retained_intron, 2 protein_coding_CDS_not_defined
ENST00000302243, ENST00000417604, ENST00000561574, ENST00000562140, ENST00000562509, ENST00000562649, ENST00000565195, ENST00000566167, ENST00000566574, ENST00000567012, ENST00000568779, ENST00000569244, ENST00000569319, ENST00000569771, ENST00000575878, ENST00000879410, ENST00000921894, ENST00000921895, ENST00000921896, ENST00000950912, ENST00000950913, ENST00000950914
RefSeq mRNA: 5 — MANE Select: NM_018332
NM_001320522, NM_001320525, NM_001320526, NM_001320527, NM_018332
CCDS: CCDS10889, CCDS82009
Canonical transcript exons
ENST00000302243 — 12 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001878419 | 70346903 | 70347048 |
| ENSE00002622974 | 70371925 | 70373383 |
| ENSE00003495648 | 70356112 | 70356247 |
| ENSE00003598141 | 70355485 | 70355535 |
| ENSE00003685600 | 70350557 | 70350605 |
| ENSE00003784604 | 70366624 | 70366861 |
| ENSE00003784856 | 70361418 | 70361510 |
| ENSE00003785046 | 70365017 | 70365131 |
| ENSE00003787422 | 70370223 | 70370385 |
| ENSE00003788219 | 70366085 | 70366262 |
| ENSE00003790889 | 70364543 | 70364645 |
| ENSE00003791517 | 70371372 | 70371563 |
Expression profiles
Bgee: expression breadth ubiquitous, 148 present calls, max score 94.42.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 39.1091 / max 325.3243, expressed in 1820 samples.
FANTOM5 promoters (3 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 154871 | 36.7988 | 1819 |
| 154872 | 2.0803 | 1255 |
| 207933 | 0.2300 | 80 |
Top tissues by expression
151 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| gastrocnemius | UBERON:0001388 | 94.42 | gold quality |
| muscle of leg | UBERON:0001383 | 94.20 | gold quality |
| skeletal muscle tissue | UBERON:0001134 | 93.05 | gold quality |
| hindlimb stylopod muscle | UBERON:0004252 | 92.64 | gold quality |
| smooth muscle tissue | UBERON:0001135 | 92.40 | gold quality |
| muscle tissue | UBERON:0002385 | 92.20 | gold quality |
| placenta | UBERON:0001987 | 91.35 | gold quality |
| adrenal tissue | UBERON:0018303 | 90.65 | gold quality |
| lower esophagus muscularis layer | UBERON:0035833 | 90.62 | gold quality |
| lower esophagus | UBERON:0013473 | 90.59 | gold quality |
| popliteal artery | UBERON:0002250 | 90.57 | gold quality |
| tibial artery | UBERON:0007610 | 90.57 | gold quality |
| ventricular zone | UBERON:0003053 | 90.54 | gold quality |
| right coronary artery | UBERON:0001625 | 90.53 | gold quality |
| urinary bladder | UBERON:0001255 | 90.29 | gold quality |
| sural nerve | UBERON:0015488 | 90.22 | gold quality |
| esophagogastric junction muscularis propria | UBERON:0035841 | 90.22 | gold quality |
| vastus lateralis | UBERON:0001379 | 89.96 | silver quality |
| islet of Langerhans | UBERON:0000006 | 89.83 | gold quality |
| calcaneal tendon | UBERON:0003701 | 89.81 | gold quality |
| descending thoracic aorta | UBERON:0002345 | 89.74 | gold quality |
| muscle layer of sigmoid colon | UBERON:0035805 | 89.71 | gold quality |
| thoracic aorta | UBERON:0001515 | 89.67 | gold quality |
| ascending aorta | UBERON:0001496 | 89.59 | gold quality |
| sigmoid colon | UBERON:0001159 | 89.55 | gold quality |
| right adrenal gland cortex | UBERON:0035827 | 89.55 | gold quality |
| mucosa of stomach | UBERON:0001199 | 89.54 | gold quality |
| left uterine tube | UBERON:0001303 | 89.43 | gold quality |
| left adrenal gland | UBERON:0001234 | 89.34 | gold quality |
| heart left ventricle | UBERON:0002084 | 89.31 | gold quality |
Single-cell (SCXA)
Detected in 1 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | yes | 6.75 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
55 targeting DDX19A, 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-7110-3P | 100.00 | 73.18 | 2486 |
| HSA-MIR-340-5P | 100.00 | 72.50 | 4437 |
| HSA-MIR-6873-3P | 100.00 | 71.42 | 2626 |
| HSA-MIR-196A-5P | 100.00 | 68.16 | 684 |
| HSA-MIR-196B-5P | 100.00 | 68.16 | 681 |
| HSA-MIR-6833-3P | 100.00 | 70.63 | 3197 |
| HSA-MIR-4768-5P | 100.00 | 69.49 | 2861 |
| HSA-MIR-4500 | 99.99 | 72.72 | 2367 |
| HSA-MIR-1184 | 99.99 | 68.19 | 1458 |
| HSA-MIR-3662 | 99.99 | 73.82 | 5684 |
| HSA-LET-7G-5P | 99.98 | 72.37 | 1784 |
| HSA-LET-7I-5P | 99.98 | 72.37 | 1788 |
| HSA-MIR-4482-3P | 99.98 | 72.50 | 3147 |
| HSA-LET-7A-5P | 99.98 | 72.29 | 1790 |
| HSA-LET-7B-5P | 99.98 | 72.31 | 1790 |
| HSA-LET-7C-5P | 99.98 | 72.29 | 1790 |
| HSA-LET-7E-5P | 99.98 | 72.29 | 1790 |
| HSA-LET-7F-5P | 99.98 | 72.56 | 1784 |
| HSA-MIR-98-5P | 99.98 | 72.33 | 1787 |
| HSA-LET-7D-5P | 99.96 | 71.76 | 1632 |
| HSA-MIR-4458 | 99.96 | 71.64 | 1650 |
| HSA-MIR-4492 | 99.87 | 68.25 | 3611 |
| HSA-MIR-4659A-3P | 99.80 | 72.62 | 4248 |
| HSA-MIR-4659B-3P | 99.80 | 72.62 | 4248 |
| HSA-MIR-1255A | 99.74 | 68.09 | 744 |
| HSA-MIR-1255B-5P | 99.74 | 68.16 | 741 |
| HSA-MIR-1296-3P | 99.72 | 64.04 | 636 |
| HSA-MIR-4516 | 99.61 | 67.78 | 3390 |
| HSA-MIR-3616-5P | 99.55 | 67.02 | 989 |
| HSA-MIR-573 | 99.55 | 67.44 | 955 |
Functional genomics
DepMap (CRISPR cell-line fitness): dependent in 22.2% of screened cell lines.
Literature-anchored findings (GeneRIF, showing 1)
- Silencing of let-7b-5p inhibits ovarian cancer cell proliferation and stemness characteristics by Asp-Glu-Ala-Asp-box helicase 19A. (PMID:34612147)
Cross-species orthologs
4 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | ddx19b | ENSDARG00000005699 |
| danio_rerio | ddx19a | ENSDARG00000044325 |
| mus_musculus | Ddx19a | ENSMUSG00000015023 |
| rattus_norvegicus | Ddx19b | ENSRNOG00000018033 |
Paralogs (38): DDX20 (ENSG00000064703), DDX3Y (ENSG00000067048), DDX1 (ENSG00000079785), DDX43 (ENSG00000080007), DDX18 (ENSG00000088205), DDX24 (ENSG00000089737), DDX17 (ENSG00000100201), DDX49 (ENSG00000105671), DDX50 (ENSG00000107625), DDX5 (ENSG00000108654), DDX25 (ENSG00000109832), DDX6 (ENSG00000110367), DDX55 (ENSG00000111364), DDX59 (ENSG00000118197), DDX54 (ENSG00000123064), DDX39A (ENSG00000123136), DDX27 (ENSG00000124228), DDX31 (ENSG00000125485), DDX56 (ENSG00000136271), EIF4A3 (ENSG00000141543), DDX46 (ENSG00000145833), DDX4 (ENSG00000152670), EIF4A2 (ENSG00000156976), DDX19B (ENSG00000157349), EIF4A1 (ENSG00000161960), DDX21 (ENSG00000165732), TDRD12 (ENSG00000173809), DDX23 (ENSG00000174243), DDX10 (ENSG00000178105), DDX28 (ENSG00000182810), DDX41 (ENSG00000183258), DDX53 (ENSG00000184735), DDX51 (ENSG00000185163), DDX42 (ENSG00000198231), DDX39B (ENSG00000198563), DDX47 (ENSG00000213782), DDX3X (ENSG00000215301), DDX52 (ENSG00000278053)
Protein
Protein identifiers
ATP-dependent RNA helicase DDX19A — Q9NUU7 (reviewed: Q9NUU7)
Alternative names: DDX19-like protein, DEAD box protein 19A
All UniProt accessions (8): Q9NUU7, H3BP36, H3BP50, H3BSL8, H3BTB3, I3L0H8, I3L352, J3QRH0
UniProt curated annotations — full annotation on UniProt →
Function. ATP-dependent RNA helicase involved in mRNA export from the nucleus. Rather than unwinding RNA duplexes, DDX19 functions as a remodeler of ribonucleoprotein particles, whereby proteins bound to nuclear mRNA are dissociated and replaced by cytoplasmic mRNA binding proteins.
Subcellular location. Cytoplasm. Nucleus. Nucleoplasm.
Domain organisation. The N-terminal extension helix acts as an autoinhibitory domain, preventing ATP hydrolysis, unless the N-terminus of the protein is displaced by RNA binding, allowing cleft closure to bring key side chains into position for catalysis.
Similarity. Belongs to the DEAD box helicase family. DDX19/DBP5 subfamily.
Isoforms (2)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q9NUU7-1 | 1 | yes |
| Q9NUU7-2 | 2 |
RefSeq proteins (5): NP_001307451, NP_001307454, NP_001307455, NP_001307456, NP_060802* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR001650 | Helicase_C-like | Domain |
| IPR011545 | DEAD/DEAH_box_helicase_dom | Domain |
| IPR014001 | Helicase_ATP-bd | Domain |
| IPR014014 | RNA_helicase_DEAD_Q_motif | Domain |
| IPR027417 | P-loop_NTPase | Homologous_superfamily |
Pfam: PF00270, PF00271
Catalyzed reactions (Rhea), 1 shown:
- ATP + H2O = ADP + phosphate + H(+) (RHEA:13065)
UniProt features (19 total): binding site 4, region of interest 3, modified residue 2, cross-link 2, domain 2, short sequence motif 2, initiator methionine 1, chain 1, splice variant 1, sequence conflict 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q9NUU7-F1 | 80.97 | 0.44 |
Functional residue map
Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.
Ligand- & substrate-binding residues (4): 137–144; 428; 431; 118
Post-translational modifications (4): 2, 42, 26, 26
Function
Pathways and Gene Ontology
Reactome pathways
0 pathways
MSigDB gene sets: 172 (showing top):
GSE18804_SPLEEN_MACROPHAGE_VS_BRAIN_TUMORAL_MACROPHAGE_DN, ATF_B, ACTACCT_MIR196A_MIR196B, FAELT_B_CLL_WITH_VH_REARRANGEMENTS_DN, chr16q22, SHEPARD_CRASH_AND_BURN_MUTANT_UP, MORF_HDAC1, MORF_UBE2N, CREBP1_Q2, MORF_HDAC2, MODULE_16, GOBP_NUCLEAR_TRANSPORT, GOBP_NUCLEOBASE_CONTAINING_COMPOUND_TRANSPORT, GOTZMANN_EPITHELIAL_TO_MESENCHYMAL_TRANSITION_DN, CREB_Q2_01
GO Biological Process (3): response to zinc ion (GO:0010043), poly(A)+ mRNA export from nucleus (GO:0016973), positive regulation of apoptotic process (GO:0043065)
GO Molecular Function (10): RNA helicase activity (GO:0003724), mRNA binding (GO:0003729), ATP binding (GO:0005524), ATP hydrolysis activity (GO:0016887), nucleotide binding (GO:0000166), nucleic acid binding (GO:0003676), RNA binding (GO:0003723), helicase activity (GO:0004386), protein binding (GO:0005515), hydrolase activity (GO:0016787)
GO Cellular Component (5): nucleus (GO:0005634), nucleoplasm (GO:0005654), cytoplasmic stress granule (GO:0010494), membrane (GO:0016020), cytoplasm (GO:0005737)
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| cellular anatomical structure | 3 |
| ATP-dependent activity | 2 |
| binding | 2 |
| response to metal ion | 1 |
| mRNA export from nucleus | 1 |
| apoptotic process | 1 |
| regulation of apoptotic process | 1 |
| positive regulation of programmed cell death | 1 |
| helicase activity | 1 |
| ATP-dependent activity, acting on RNA | 1 |
| catalytic activity, acting on RNA | 1 |
| RNA binding | 1 |
| adenyl ribonucleotide binding | 1 |
| purine ribonucleoside triphosphate binding | 1 |
| ribonucleoside triphosphate phosphatase activity | 1 |
| nucleoside phosphate binding | 1 |
| heterocyclic compound binding | 1 |
| nucleic acid binding | 1 |
| nucleic acid conformation isomerase activity | 1 |
| catalytic activity, acting on a nucleic acid | 1 |
| catalytic activity | 1 |
| intracellular membrane-bounded organelle | 1 |
| nuclear lumen | 1 |
| cytoplasmic ribonucleoprotein granule | 1 |
| intracellular anatomical structure | 1 |
Protein interactions and networks
STRING
1616 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| DDX19A | NLRP3 | Q96P20 | 825 |
| DDX19A | DHX33 | Q9H6R0 | 572 |
| DDX19A | ANGEL1 | Q9UNK9 | 512 |
| DDX19A | GLE1 | Q53GS7 | 501 |
| DDX19A | DHX57 | Q6P158 | 450 |
| DDX19A | OR2T5 | Q6IEZ7 | 439 |
| DDX19A | RNF19A | Q9NV58 | 425 |
| DDX19A | TUBGCP3 | Q96CW5 | 417 |
| DDX19A | GEMIN2 | O14893 | 413 |
| DDX19A | DHX36 | Q9H2U1 | 410 |
| DDX19A | TUBG1 | P23258 | 407 |
| DDX19A | BMP8A | Q7Z5Y6 | 401 |
| DDX19A | NAGA | P17050 | 398 |
| DDX19A | BMP8B | P34820 | 382 |
| DDX19A | NUP214 | P35658 | 381 |
IntAct
81 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| DDX19B | MIF4GD | psi-mi:“MI:0914”(association) | 0.870 |
| MIF4GD | DDX19A | psi-mi:“MI:0915”(physical association) | 0.860 |
| DDX19A | MIF4GD | psi-mi:“MI:0915”(physical association) | 0.860 |
| DDX19A | MIF4GD | psi-mi:“MI:0914”(association) | 0.860 |
| CFTR | ESYT2 | psi-mi:“MI:2364”(proximity) | 0.710 |
| CTIF | DDX19A | psi-mi:“MI:0915”(physical association) | 0.670 |
| DDX19A | CFTR | psi-mi:“MI:0915”(physical association) | 0.620 |
| CFTR | DDX19A | psi-mi:“MI:0915”(physical association) | 0.620 |
| MIF4GD | DDX19A | psi-mi:“MI:0915”(physical association) | 0.560 |
| DDX21 | MED19 | psi-mi:“MI:2364”(proximity) | 0.480 |
| SDC2 | DDX19A | psi-mi:“MI:0915”(physical association) | 0.400 |
| DDX19A | PA | psi-mi:“MI:0915”(physical association) | 0.370 |
| DDX19A | PB1 | psi-mi:“MI:0915”(physical association) | 0.370 |
| DDX19A | PB2 | psi-mi:“MI:0915”(physical association) | 0.370 |
| MDFI | DDX19A | psi-mi:“MI:0915”(physical association) | 0.370 |
| Xpo1 | IFT56 | psi-mi:“MI:0914”(association) | 0.350 |
| HSCB | RBP5 | psi-mi:“MI:0914”(association) | 0.350 |
| HSD17B10 | HMGB1P1 | psi-mi:“MI:0914”(association) | 0.350 |
| HSD17B10 | HNRNPDL | psi-mi:“MI:0914”(association) | 0.350 |
| HSD17B10 | COPE | psi-mi:“MI:0914”(association) | 0.350 |
BioGRID (126): MIF4GD (Two-hybrid), DDX19A (Affinity Capture-RNA), DDX19A (Affinity Capture-MS), DDX19A (Two-hybrid), DDX25 (Affinity Capture-MS), DDX19B (Affinity Capture-MS), NUP214 (Affinity Capture-MS), NUP88 (Affinity Capture-MS), NUP62 (Affinity Capture-MS), CTIF (Affinity Capture-MS), MIF4GD (Two-hybrid), DDX19A (Co-fractionation), DDX19A (Co-fractionation), DDX19A (Co-fractionation), DDX19A (Co-fractionation)
ESM2 similar proteins: A1CFV3, A1CYG5, A3GH91, A3LNR6, A4R8B5, A4RIF1, A5DBI5, A5DID7, A5DZX2, A6RC50, A6SBT4, A6ZNQ1, A7EY76, O61305, P0CQ84, P0CQ86, P0CQ87, P20449, Q03532, Q09747, Q0CDT1, Q0UCB9, Q0UR48, Q1EB85, Q2HGF7, Q2U8K6, Q2UUN6, Q3ZBV2, Q4HY71, Q4IEK8, Q4P7Z8, Q4WIN6, Q5AJD0, Q5AK59, Q5AVM1, Q5BBY1, Q61655, Q6BH93, Q6BRE4, Q6C3X7
Diamond homologs: A1CFV3, A1CJT5, A1CYG5, A1D7N3, A2QEN5, A2QUY7, A3GFI4, A3GH91, A4HRK0, A4QVP2, A4RIF1, A5A6N4, A5DB98, A5DBI5, A5DVM3, A5DZX2, A6RC50, A6RJ45, A6SBT4, A6ZNQ1, A6ZQJ1, A7EGL7, A7EY76, O02494, O61305, O62591, P0CQ70, P0CQ71, P0CQ86, P0CQ87, P10081, P10630, P20449, P27639, P29562, P35683, P41376, P41378, P41379, P41381
SIGNOR signaling
0 interactions.
Enriched among interaction partners
Reactome pathways and GO biological processes over-represented among this gene’s 83 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.
GO biological processes:
| GO term | Partners | Fold | FDR |
|---|---|---|---|
| cell surface receptor protein tyrosine kinase signaling pathway | 7 | 17.9× | 7e-05 |
| protein autophosphorylation | 6 | 12.8× | 2e-03 |
| positive regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction | 7 | 8.1× | 4e-03 |
Disease & clinical
Clinical variants and AI predictions
ClinVar
46 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 32 |
| Likely benign | 3 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
2282 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 16:70347031:G:GT | donor_gain | 1.0000 |
| 16:70347045:GTCG:G | donor_gain | 1.0000 |
| 16:70347076:G:GT | donor_gain | 1.0000 |
| 16:70347116:G:GT | donor_gain | 1.0000 |
| 16:70350551:A:AG | acceptor_gain | 1.0000 |
| 16:70350552:T:G | acceptor_gain | 1.0000 |
| 16:70350552:TTCA:T | acceptor_loss | 1.0000 |
| 16:70350553:TCA:T | acceptor_loss | 1.0000 |
| 16:70350554:CA:C | acceptor_loss | 1.0000 |
| 16:70350555:A:AG | acceptor_gain | 1.0000 |
| 16:70350555:AGAT:A | acceptor_gain | 1.0000 |
| 16:70350556:G:GA | acceptor_gain | 1.0000 |
| 16:70350556:GA:G | acceptor_gain | 1.0000 |
| 16:70350556:GAT:G | acceptor_gain | 1.0000 |
| 16:70350556:GATG:G | acceptor_gain | 1.0000 |
| 16:70350556:GATGA:G | acceptor_gain | 1.0000 |
| 16:70355480:TGTA:T | acceptor_loss | 1.0000 |
| 16:70355481:GTAG:G | acceptor_loss | 1.0000 |
| 16:70355482:TA:T | acceptor_loss | 1.0000 |
| 16:70355482:TAGGT:T | acceptor_loss | 1.0000 |
| 16:70355483:AGG:A | acceptor_loss | 1.0000 |
| 16:70355484:G:GT | acceptor_loss | 1.0000 |
| 16:70356244:GGCT:G | donor_gain | 1.0000 |
| 16:70356245:GCT:G | donor_gain | 1.0000 |
| 16:70356245:GCTG:G | donor_gain | 1.0000 |
| 16:70356246:CTG:C | donor_loss | 1.0000 |
| 16:70356247:TGT:T | donor_loss | 1.0000 |
| 16:70356247:TGTG:T | donor_loss | 1.0000 |
| 16:70356248:G:A | donor_loss | 1.0000 |
| 16:70356248:G:GG | donor_gain | 1.0000 |
AlphaMissense
3173 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 16:70356231:T:C | F93L | 1.000 |
| 16:70356232:T:C | F93S | 1.000 |
| 16:70356232:T:G | F93C | 1.000 |
| 16:70356233:T:A | F93L | 1.000 |
| 16:70356233:T:G | F93L | 1.000 |
| 16:70356241:T:C | L96P | 1.000 |
| 16:70361455:T:C | F111L | 1.000 |
| 16:70361457:C:A | F111L | 1.000 |
| 16:70361457:C:G | F111L | 1.000 |
| 16:70361465:C:A | P114H | 1.000 |
| 16:70361474:T:A | I117K | 1.000 |
| 16:70361474:T:G | I117R | 1.000 |
| 16:70361478:A:C | Q118H | 1.000 |
| 16:70361478:A:T | Q118H | 1.000 |
| 16:70361485:G:C | A121P | 1.000 |
| 16:70364554:T:C | L133P | 1.000 |
| 16:70364560:C:A | A135D | 1.000 |
| 16:70364564:G:C | Q136H | 1.000 |
| 16:70364564:G:T | Q136H | 1.000 |
| 16:70364565:T:C | S137P | 1.000 |
| 16:70364574:G:C | G140R | 1.000 |
| 16:70364574:G:T | G140C | 1.000 |
| 16:70364575:G:A | G140D | 1.000 |
| 16:70364575:G:T | G140V | 1.000 |
| 16:70364580:G:C | G142R | 1.000 |
| 16:70364580:G:T | G142C | 1.000 |
| 16:70364581:G:A | G142D | 1.000 |
| 16:70364581:G:T | G142V | 1.000 |
| 16:70364583:A:C | K143Q | 1.000 |
| 16:70364584:A:T | K143I | 1.000 |
dbSNP variants (sampled 300 via entrez): RS1000039979 (16:70373493 A>G), RS1000048210 (16:70354313 AT>A), RS1000118741 (16:70368009 C>T), RS1000209904 (16:70366423 C>A,T), RS1000279577 (16:70349424 G>A), RS1000324493 (16:70362871 G>A), RS1000527687 (16:70350649 G>T), RS1000540952 (16:70350848 A>G,T), RS1000600015 (16:70360239 C>G,T), RS1000617839 (16:70345940 G>A,C), RS1000834533 (16:70355980 C>G,T), RS1000967523 (16:70372178 T>A), RS1001142003 (16:70345293 G>A), RS1001247989 (16:70373711 T>C,G), RS1001250076 (16:70350849 T>C)
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
4 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST006077_3 | Branched-chain amino acid levels (Isoleucine) | 2.000000e-08 |
| GCST006078_1 | Branched-chain amino acid levels (Valine) | 3.000000e-06 |
| GCST010703_100 | Brain morphology (MOSTest) | 2.000000e-40 |
| GCST010725_47 | Malaria | 6.000000e-07 |
EFO canonical traits (2, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0005134 | amino acid measurement |
| EFO:0004346 | neuroimaging measurement |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
28 total (human), top 28 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Valproic Acid | decreases methylation, increases expression, affects expression | 3 |
| bisphenol A | increases methylation, decreases expression, decreases methylation, affects cotreatment | 2 |
| pyrogallol 1,3-dimethyl ether | decreases expression, affects cotreatment, affects localization | 1 |
| decabromobiphenyl ether | decreases expression | 1 |
| beta-lapachone | decreases expression, increases expression | 1 |
| sodium arsenite | decreases expression | 1 |
| cobaltous chloride | decreases expression | 1 |
| perfluorooctanoic acid | decreases expression | 1 |
| manganese chloride | decreases expression, increases abundance | 1 |
| di-n-butylphosphoric acid | affects expression | 1 |
| 2,2’,4,4’-tetrabromodiphenyl ether | decreases expression | 1 |
| pentabrominated diphenyl ether 100 | decreases expression | 1 |
| hexabrominated diphenyl ether 153 | decreases expression | 1 |
| Resveratrol | affects cotreatment, increases expression | 1 |
| Fulvestrant | affects cotreatment, increases methylation | 1 |
| Atrazine | decreases expression | 1 |
| Caffeine | decreases phosphorylation | 1 |
| Doxorubicin | affects expression | 1 |
| Furaldehyde | affects cotreatment, affects localization, increases expression | 1 |
| Hydrogen Peroxide | affects expression | 1 |
| Ivermectin | decreases expression | 1 |
| Manganese | decreases expression, increases abundance | 1 |
| Piroxicam | decreases expression | 1 |
| Plant Extracts | affects cotreatment, increases expression | 1 |
| Ribonucleotides | affects binding | 1 |
| Rotenone | decreases expression | 1 |
| Smoke | decreases expression | 1 |
| Sodium Chloride | affects localization, increases expression, decreases expression, affects cotreatment | 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.