DDX27
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Also known as dJ686N3.1DRS1
Summary
DDX27 (DEAD-box helicase 27, HGNC:15837) is a protein-coding gene on chromosome 20q13.13, encoding Probable ATP-dependent RNA helicase DDX27 (Q96GQ7). Probable ATP-dependent RNA helicase. It is a common-essential gene (DepMap: required in 97.4% of cancer cell lines).
DEAD box proteins, characterized by the conserved motif Asp-Glu-Ala-Asp (DEAD), are putative RNA helicases. They are implicated in a number of cellular processes involving alteration of RNA secondary structure such as translation initiation, nuclear and mitochondrial splicing, and ribosome and spliceosome assembly. Based on their distribution patterns, some members of this family are believed to be involved in embryogenesis, spermatogenesis, and cellular growth and division. This gene encodes a DEAD box protein involved in the processing of 5.8S and 28S ribosomal RNAs. More specifically, the encoded protein localizes to the nucleolus, where it interacts with the PeBoW complex to ensure proper 3’ end formation of 47S rRNA.
Source: NCBI Gene 55661 — RefSeq curated summary.
At a glance
- GWAS associations: 5
- Clinical variants (ClinVar): 123 total
- Cancer dependency (DepMap): dependent in 97.4% of screened cell lines (common-essential)
- MANE Select transcript:
NM_017895
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:15837 |
| Approved symbol | DDX27 |
| Name | DEAD-box helicase 27 |
| Location | 20q13.13 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | dJ686N3.1, DRS1 |
| Ensembl gene | ENSG00000124228 |
| Ensembl biotype | protein_coding |
| OMIM | 616621 |
| Entrez | 55661 |
Gene structure
Transcript identifiers
Ensembl transcripts: 19 — 16 protein_coding, 2 retained_intron, 1 nonsense_mediated_decay
ENST00000462328, ENST00000471144, ENST00000484427, ENST00000493252, ENST00000618172, ENST00000870582, ENST00000870583, ENST00000870584, ENST00000939254, ENST00000939255, ENST00000939256, ENST00000939257, ENST00000939258, ENST00000939259, ENST00000939260, ENST00000939261, ENST00000958004, ENST00000958005, ENST00000958006
RefSeq mRNA: 2 — MANE Select: NM_017895
NM_001348187, NM_017895
CCDS: CCDS13416
Canonical transcript exons
ENST00000618172 — 21 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001150075 | 49236150 | 49236231 |
| ENSE00001243341 | 49233568 | 49233709 |
| ENSE00001243430 | 49234935 | 49235088 |
| ENSE00003460352 | 49225113 | 49225199 |
| ENSE00003465938 | 49226430 | 49226535 |
| ENSE00003501665 | 49236333 | 49236510 |
| ENSE00003522643 | 49230199 | 49230349 |
| ENSE00003543674 | 49242594 | 49242681 |
| ENSE00003545870 | 49241893 | 49241987 |
| ENSE00003565091 | 49221452 | 49221598 |
| ENSE00003571321 | 49228715 | 49228888 |
| ENSE00003583637 | 49243629 | 49243703 |
| ENSE00003583911 | 49239236 | 49239338 |
| ENSE00003615018 | 49233306 | 49233405 |
| ENSE00003626974 | 49223268 | 49223433 |
| ENSE00003646085 | 49222957 | 49223016 |
| ENSE00003654088 | 49242083 | 49242206 |
| ENSE00003670399 | 49238949 | 49239055 |
| ENSE00003689997 | 49224945 | 49224991 |
| ENSE00003714970 | 49219416 | 49219541 |
| ENSE00003733445 | 49243816 | 49244073 |
Expression profiles
Bgee: expression breadth ubiquitous, 291 present calls, max score 98.67.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 52.6104 / max 420.2623, expressed in 1824 samples.
FANTOM5 promoters (3 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 185155 | 44.7750 | 1823 |
| 185154 | 6.5480 | 1721 |
| 185156 | 1.2874 | 437 |
Top tissues by expression
295 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| tendon of biceps brachii | UBERON:0008188 | 98.67 | gold quality |
| pancreatic ductal cell | CL:0002079 | 97.47 | gold quality |
| cervix squamous epithelium | UBERON:0006922 | 96.01 | gold quality |
| endothelial cell | CL:0000115 | 95.84 | gold quality |
| tongue squamous epithelium | UBERON:0006919 | 95.56 | gold quality |
| sural nerve | UBERON:0015488 | 94.76 | gold quality |
| hair follicle | UBERON:0002073 | 94.65 | gold quality |
| ileal mucosa | UBERON:0000331 | 93.48 | gold quality |
| left ovary | UBERON:0002119 | 93.00 | gold quality |
| right ovary | UBERON:0002118 | 92.98 | gold quality |
| pylorus | UBERON:0001166 | 92.96 | gold quality |
| sperm | CL:0000019 | 92.91 | gold quality |
| pericardium | UBERON:0002407 | 92.76 | gold quality |
| cardia of stomach | UBERON:0001162 | 92.72 | gold quality |
| squamous epithelium | UBERON:0006914 | 92.66 | gold quality |
| male germ cell | CL:0000015 | 92.58 | gold quality |
| epithelium of nasopharynx | UBERON:0001951 | 92.37 | gold quality |
| granulocyte | CL:0000094 | 92.10 | gold quality |
| tendon | UBERON:0000043 | 92.07 | gold quality |
| lymph node | UBERON:0000029 | 91.94 | gold quality |
| gingival epithelium | UBERON:0001949 | 91.94 | gold quality |
| medial globus pallidus | UBERON:0002477 | 91.93 | gold quality |
| ovary | UBERON:0000992 | 91.82 | gold quality |
| vena cava | UBERON:0004087 | 91.71 | gold quality |
| superior surface of tongue | UBERON:0007371 | 91.71 | gold quality |
| left uterine tube | UBERON:0001303 | 91.54 | gold quality |
| pharyngeal mucosa | UBERON:0000355 | 91.49 | gold quality |
| esophagus squamous epithelium | UBERON:0006920 | 91.49 | gold quality |
| cervix epithelium | UBERON:0004801 | 91.47 | gold quality |
| parotid gland | UBERON:0001831 | 91.45 | gold quality |
Single-cell (SCXA)
Detected in 2 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-MTAB-6911 | no | 202.59 |
| E-ANND-3 | no | 0.00 |
Regulation
Is transcription factor: no
Functional genomics
DepMap (CRISPR cell-line fitness): dependent in 97.4% of screened cell lines, common-essential.
Literature-anchored findings (GeneRIF, showing 6)
- Levels of DDX27 mRNA and protein were increased in early-stage gastric tumors, and may be a potential diagnostic and prognostic marker for Gastric cancer. (PMID:25742747)
- The DDX27 can interact specifically with the Pes1 and Bop1 but fulfils critical function(s) for proper 3’ end formation of 47S rRNA independently of the PeBoW-complex. (PMID:25825154)
- Data found that DDX27 expression is significantly up-regulated in colorectal cancer (CRC) at mRNA and protein levels. DDX27 mRNA overexpression was positively correlated with DNA copy number gain and associated with poor prognosis in CRC patients. Further evidences prove that DDX27 plays a pivotal oncogenic role in CRC. (PMID:29535419)
- DEAD-box helicase 27 enhances stem cell-like properties with poor prognosis in breast cancer. (PMID:34362383)
- DEAD-box Helicase 27 Promotes Hepatocellular Carcinoma Progression Through ERK Signaling. (PMID:34855554)
- DDX27 regulates oral squamous cell carcinoma development through targeting CSE1L. (PMID:38301874)
Cross-species orthologs
5 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | ddx27 | ENSDARG00000091831 |
| mus_musculus | Ddx27 | ENSMUSG00000017999 |
| rattus_norvegicus | Ddx27 | ENSRNOG00000008081 |
| drosophila_melanogaster | Rs1 | FBGN0021995 |
| caenorhabditis_elegans | ddx-27 | WBGENE00022148 |
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), DDX31 (ENSG00000125485), DDX56 (ENSG00000136271), EIF4A3 (ENSG00000141543), DDX46 (ENSG00000145833), DDX4 (ENSG00000152670), EIF4A2 (ENSG00000156976), DDX19B (ENSG00000157349), EIF4A1 (ENSG00000161960), DDX21 (ENSG00000165732), DDX19A (ENSG00000168872), 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
Probable ATP-dependent RNA helicase DDX27 — Q96GQ7 (reviewed: Q96GQ7)
Alternative names: DEAD box protein 27
All UniProt accessions (4): A0A087WYH5, A0A087X059, B7Z6D5, Q96GQ7
UniProt curated annotations — full annotation on UniProt →
Function. Probable ATP-dependent RNA helicase. Component of the nucleolar ribosomal RNA (rRNA) processing machinery that regulates 3’ end formation of ribosomal 47S rRNA.
Subunit / interactions. Associates with PeBoW complex, composed of BOP1, PES1 and WDR12. Interacts directly with BOP1 and PES1.
Subcellular location. Nucleus. Nucleolus. Chromosome.
Domain organisation. The C-terminal domain regulates nucleolar localization.
Similarity. Belongs to the DEAD box helicase family. DDX27/DRS1 subfamily.
RefSeq proteins (2): NP_001335116, NP_060365* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR000629 | RNA-helicase_DEAD-box_CS | Conserved_site |
| 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 |
| IPR050079 | DEAD_box_RNA_helicase | Family |
Pfam: PF00270, PF00271
Catalyzed reactions (Rhea), 1 shown:
- ATP + H2O = ADP + phosphate + H(+) (RHEA:13065)
UniProt features (27 total): compositionally biased region 5, modified residue 5, sequence conflict 4, short sequence motif 4, region of interest 3, domain 2, chain 1, binding site 1, sequence variant 1, mutagenesis site 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q96GQ7-F1 | 72.06 | 0.24 |
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 (1): 231–238
Post-translational modifications (5): 23, 25, 48, 135, 146
Mutagenesis-validated functional residues (1):
| Position | Phenotype |
|---|---|
| 55–57 | no interaction with pebow complex. |
Function
Pathways and Gene Ontology
Reactome pathways
0 pathways
MSigDB gene sets: 112 (showing top):
GOBP_RIBOSOME_BIOGENESIS, RODRIGUES_THYROID_CARCINOMA_ANAPLASTIC_UP, CREIGHTON_ENDOCRINE_THERAPY_RESISTANCE_1, WATANABE_RECTAL_CANCER_RADIOTHERAPY_RESPONSIVE_UP, WANG_LMO4_TARGETS_DN, BLALOCK_ALZHEIMERS_DISEASE_UP, GARCIA_TARGETS_OF_FLI1_AND_DAX1_DN, GARY_CD5_TARGETS_DN, ACEVEDO_LIVER_CANCER_UP, GOBP_RIBONUCLEOPROTEIN_COMPLEX_BIOGENESIS, GRADE_COLON_AND_RECTAL_CANCER_UP, GOCC_NUCLEOLUS, GOMF_HYDROLASE_ACTIVITY_ACTING_ON_ACID_ANHYDRIDES, LIU_COMMON_CANCER_GENES, GINESTIER_BREAST_CANCER_20Q13_AMPLIFICATION_UP
GO Biological Process (1): rRNA processing (GO:0006364)
GO Molecular Function (8): RNA binding (GO:0003723), RNA helicase activity (GO:0003724), ATP binding (GO:0005524), ATP hydrolysis activity (GO:0016887), nucleotide binding (GO:0000166), nucleic acid binding (GO:0003676), helicase activity (GO:0004386), hydrolase activity (GO:0016787)
GO Cellular Component (2): chromosome (GO:0005694), nucleolus (GO:0005730)
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| ATP-dependent activity | 2 |
| intracellular membraneless organelle | 2 |
| RNA processing | 1 |
| rRNA metabolic process | 1 |
| ribosome biogenesis | 1 |
| nucleic acid binding | 1 |
| helicase activity | 1 |
| ATP-dependent activity, acting on RNA | 1 |
| catalytic activity, acting on RNA | 1 |
| adenyl ribonucleotide binding | 1 |
| purine ribonucleoside triphosphate binding | 1 |
| ribonucleoside triphosphate phosphatase activity | 1 |
| nucleoside phosphate binding | 1 |
| heterocyclic compound binding | 1 |
| binding | 1 |
| nucleic acid conformation isomerase activity | 1 |
| catalytic activity, acting on a nucleic acid | 1 |
| catalytic activity | 1 |
| nuclear lumen | 1 |
Protein interactions and networks
STRING
3516 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| DDX27 | WDR12 | Q9GZL7 | 626 |
| DDX27 | BOP1 | Q14137 | 570 |
| DDX27 | DHX15 | O43143 | 500 |
| DDX27 | RRS1 | Q15050 | 475 |
| DDX27 | PUM3 | Q15397 | 475 |
| DDX27 | LYG1 | Q8N1E2 | 474 |
| DDX27 | ZNF593 | O00488 | 472 |
| DDX27 | CIMIP1 | Q9H1P6 | 449 |
| DDX27 | ZNF446 | Q9NWS9 | 449 |
| DDX27 | RRP9 | O43818 | 447 |
| DDX27 | TM9SF4 | Q92544 | 447 |
| DDX27 | TEX10 | Q9NXF1 | 442 |
| DDX27 | DHX33 | Q9H6R0 | 441 |
| DDX27 | DHX38 | Q92620 | 425 |
| DDX27 | DHX37 | Q8IY37 | 424 |
IntAct
280 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| WDR12 | PES1 | psi-mi:“MI:0914”(association) | 0.850 |
| XPC | CETN3 | psi-mi:“MI:0914”(association) | 0.730 |
| CFTR | ESYT2 | psi-mi:“MI:2364”(proximity) | 0.710 |
| RPL14 | RRP8 | psi-mi:“MI:0914”(association) | 0.640 |
| NOP53 | RRP8 | psi-mi:“MI:0914”(association) | 0.640 |
| NOL12 | RRP8 | psi-mi:“MI:0914”(association) | 0.640 |
| NCBP2 | KPNA3 | psi-mi:“MI:0914”(association) | 0.640 |
| NPM1 | NVL | psi-mi:“MI:0914”(association) | 0.610 |
| H1-6 | ZNF724 | psi-mi:“MI:0914”(association) | 0.530 |
| RBM34 | NVL | psi-mi:“MI:0914”(association) | 0.530 |
| RRP8 | NVL | psi-mi:“MI:0914”(association) | 0.530 |
| PES1 | AP3B1 | psi-mi:“MI:0914”(association) | 0.530 |
| H1-4 | IGF2BP3 | psi-mi:“MI:0914”(association) | 0.530 |
| RPL37A | MPHOSPH10 | psi-mi:“MI:0914”(association) | 0.530 |
| RPL18 | NOP56 | 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 |
| ZNF71 | NVL | psi-mi:“MI:0914”(association) | 0.530 |
| RPL30 | RRP8 | psi-mi:“MI:0914”(association) | 0.530 |
| RPL18A | RRP8 | psi-mi:“MI:0914”(association) | 0.530 |
| ZNF512 | ZNF724 | psi-mi:“MI:0914”(association) | 0.530 |
| MAGEB2 | POLRMT | psi-mi:“MI:0914”(association) | 0.530 |
| ZC3HAV1 | KHNYN | psi-mi:“MI:0914”(association) | 0.530 |
| PPAN | PPM1G | psi-mi:“MI:0914”(association) | 0.530 |
BioGRID (406): DDX27 (Affinity Capture-MS), DDX27 (Affinity Capture-MS), DDX27 (Affinity Capture-MS), DDX27 (Affinity Capture-MS), DDX27 (Affinity Capture-MS), DDX27 (Affinity Capture-MS), DDX27 (Affinity Capture-MS), DDX27 (Affinity Capture-MS), DDX27 (Affinity Capture-MS), DDX27 (Affinity Capture-MS), DDX27 (Affinity Capture-MS), DDX27 (Affinity Capture-MS), DDX27 (Affinity Capture-MS), DDX27 (Affinity Capture-MS), DCAF13 (Co-fractionation)
ESM2 similar proteins: A1A4H6, A1C7F7, A1CHL3, A1CNV8, A1D1R8, A1DHV3, A2QAX7, A3LSN3, A4QYM6, A5D7C1, A5DKW3, A5DLR3, A5E3K3, A7A0P8, A7TJM9, P0C2N8, P0CQ92, P0CQ93, P26802, P32892, P93008, Q07886, Q09903, Q0INC5, Q0UMB9, Q0UWC8, Q0V1Z7, Q1E2B2, Q2HEB0, Q2UFL0, Q2UQI6, Q4I830, Q4WRV2, Q4X0C2, Q5RC67, Q6C7X8, Q6CEB8, Q6CJV1, Q6FNA2, Q6FW42
Diamond homologs: A0R8U6, A1A4H6, A1CNV8, A1CR32, A1D1R8, A1D405, A2QAX7, A2RB17, A2XKG2, A3LS22, A3LSN3, A4QYM6, A4RGD1, A5DAC8, A5DKW3, A5DQF1, A5DY34, A5E2Z9, A6QRQ7, A6RUH2, A6RW56, A6ZSX1, A7A0P8, A7EML8, A7F4L5, A7TJM9, A7TS37, B9XXL6, O25029, P0C2N7, P0C2N8, P0CQ92, P0CQ93, P0CR00, P0CR01, P25888, P32892, P34580, P38712, P96614
SIGNOR signaling
0 interactions.
Enriched among interaction partners
Reactome pathways and GO biological processes over-represented among this gene’s 222 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 | 22 | 20.2× | 3e-21 |
| Viral mRNA Translation | 22 | 20.2× | 3e-21 |
| PELO:HBS1L and ABCE1 dissociate a ribosome on a non-stop mRNA | 22 | 20.0× | 4e-21 |
| Nonsense Mediated Decay (NMD) independent of the Exon Junction Complex (EJC) | 23 | 19.6× | 2e-21 |
| Selenocysteine synthesis | 22 | 19.2× | 8e-21 |
| Eukaryotic Translation Termination | 22 | 19.2× | 8e-21 |
| ZNF598 and the Ribosome-associated Quality Trigger (RQT) complex dissociate a ribosome stalled on a no-go mRNA | 22 | 18.8× | 1e-20 |
| Formation of a pool of free 40S subunits | 22 | 17.9× | 4e-20 |
GO biological processes:
| GO term | Partners | Fold | FDR |
|---|---|---|---|
| maturation of LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) | 5 | 24.0× | 2e-04 |
| cytoplasmic translation | 22 | 20.9× | 3e-20 |
| ribosomal large subunit biogenesis | 8 | 18.2× | 2e-06 |
| ribosomal small subunit biogenesis | 13 | 15.2× | 8e-10 |
| peptidyl-tyrosine phosphorylation | 7 | 15.1× | 6e-05 |
| negative regulation of viral genome replication | 7 | 13.4× | 1e-04 |
| rRNA processing | 18 | 13.1× | 9e-13 |
| vascular endothelial growth factor receptor signaling pathway | 5 | 12.3× | 4e-03 |
Disease & clinical
Clinical variants and AI predictions
ClinVar
123 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 83 |
| Likely benign | 5 |
| Benign | 4 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
2868 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 20:49219533:G:GT | donor_gain | 1.0000 |
| 20:49219538:GGAG:G | donor_gain | 1.0000 |
| 20:49219539:G:GT | donor_gain | 1.0000 |
| 20:49219539:GAG:G | donor_gain | 1.0000 |
| 20:49219542:G:GG | donor_gain | 1.0000 |
| 20:49221448:CCA:C | acceptor_loss | 1.0000 |
| 20:49221449:CA:C | acceptor_loss | 1.0000 |
| 20:49221450:A:AC | acceptor_loss | 1.0000 |
| 20:49221450:A:AG | acceptor_gain | 1.0000 |
| 20:49221450:AG:A | acceptor_gain | 1.0000 |
| 20:49221450:AGG:A | acceptor_gain | 1.0000 |
| 20:49221450:AGGG:A | acceptor_gain | 1.0000 |
| 20:49221451:G:GC | acceptor_gain | 1.0000 |
| 20:49221451:G:T | acceptor_loss | 1.0000 |
| 20:49221451:GG:G | acceptor_gain | 1.0000 |
| 20:49221451:GGG:G | acceptor_gain | 1.0000 |
| 20:49221451:GGGG:G | acceptor_gain | 1.0000 |
| 20:49221594:AGAAG:A | donor_loss | 1.0000 |
| 20:49221595:GAAG:G | donor_gain | 1.0000 |
| 20:49221596:AAGG:A | donor_loss | 1.0000 |
| 20:49221597:AGGT:A | donor_loss | 1.0000 |
| 20:49221598:GGT:G | donor_loss | 1.0000 |
| 20:49221599:G:GA | donor_loss | 1.0000 |
| 20:49221600:T:A | donor_loss | 1.0000 |
| 20:49222949:A:AG | acceptor_gain | 1.0000 |
| 20:49222954:CAG:C | acceptor_gain | 1.0000 |
| 20:49222954:CAGA:C | acceptor_loss | 1.0000 |
| 20:49222955:A:AG | acceptor_gain | 1.0000 |
| 20:49222955:AGA:A | acceptor_gain | 1.0000 |
| 20:49222955:AGAG:A | acceptor_gain | 1.0000 |
AlphaMissense
5037 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 20:49226515:C:A | A260D | 1.000 |
| 20:49226529:G:T | G265W | 1.000 |
| 20:49226530:G:A | G265E | 1.000 |
| 20:49228715:G:A | G267D | 1.000 |
| 20:49228727:C:A | A271D | 1.000 |
| 20:49228793:T:C | L293P | 1.000 |
| 20:49228805:C:A | P297H | 1.000 |
| 20:49228805:C:G | P297R | 1.000 |
| 20:49228813:G:A | E300K | 1.000 |
| 20:49228817:T:C | L301P | 1.000 |
| 20:49228819:G:C | G302R | 1.000 |
| 20:49230199:G:A | G325D | 1.000 |
| 20:49230259:C:A | A345D | 1.000 |
| 20:49230265:C:A | P347Q | 1.000 |
| 20:49230267:G:C | G348R | 1.000 |
| 20:49230268:G:A | G348D | 1.000 |
| 20:49230271:G:C | R349P | 1.000 |
| 20:49230274:T:C | L350P | 1.000 |
| 20:49230286:T:C | L354P | 1.000 |
| 20:49230328:T:C | L368P | 1.000 |
| 20:49230334:T:C | L370P | 1.000 |
| 20:49230337:A:C | D371A | 1.000 |
| 20:49230339:G:A | E372K | 1.000 |
| 20:49230339:G:C | E372Q | 1.000 |
| 20:49230340:A:C | E372A | 1.000 |
| 20:49230340:A:G | E372G | 1.000 |
| 20:49230340:A:T | E372V | 1.000 |
| 20:49230341:G:C | E372D | 1.000 |
| 20:49230341:G:T | E372D | 1.000 |
| 20:49230342:G:C | A373P | 1.000 |
dbSNP variants (sampled 300 via entrez): RS1000097641 (20:49229324 C>T), RS1000213839 (20:49242248 C>T), RS1000230241 (20:49238301 G>A,C), RS1000376657 (20:49244196 G>A), RS1000406975 (20:49229183 A>C,G), RS1000569641 (20:49227131 G>A,C), RS1000793384 (20:49219101 T>C), RS1000899189 (20:49232590 T>C), RS1001504393 (20:49236619 C>T), RS1001525495 (20:49227066 T>A,C,G), RS1001555299 (20:49236254 G>C), RS1001572179 (20:49229760 C>T), RS1001638553 (20:49221845 G>A), RS1001659041 (20:49233824 C>A,T), RS1001683008 (20:49227598 C>T)
Disease associations
OMIM: gene MIM:616621 | disease phenotypes: MIM:616056
GenCC curated gene-disease
Mondo (1): developmental and epileptic encephalopathy, 26 (MONDO:0014477)
Orphanet (1): Non-specific early-onset epileptic encephalopathy (Orphanet:442835)
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
5 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST005316_251 | Intelligence (MTAG) | 3.000000e-13 |
| GCST006923_15 | Loneliness | 3.000000e-08 |
| GCST006924_7 | Loneliness (MTAG) | 3.000000e-09 |
| GCST007044_24 | Extremely high intelligence | 7.000000e-10 |
| GCST008839_11 | Height | 2.000000e-09 |
EFO canonical traits (2, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0004337 | intelligence |
| EFO:0007865 | loneliness measurement |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
27 total (human), top 27 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| bisphenol A | affects expression, decreases expression | 2 |
| Estradiol | affects cotreatment, increases expression | 2 |
| Cyclosporine | increases expression | 2 |
| deoxynivalenol | increases expression | 1 |
| afimoxifene | decreases expression | 1 |
| nivalenol | increases expression | 1 |
| di-n-butylphosphoric acid | affects expression | 1 |
| 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide | affects cotreatment, decreases expression | 1 |
| abrine | increases expression | 1 |
| LDN 193189 | affects cotreatment, decreases expression | 1 |
| Resveratrol | increases expression, affects cotreatment | 1 |
| Arsenic | affects methylation | 1 |
| Atrazine | decreases expression | 1 |
| Benzo(a)pyrene | decreases expression | 1 |
| Bucladesine | affects cotreatment, increases expression | 1 |
| Doxorubicin | decreases expression | 1 |
| Haloperidol | increases expression | 1 |
| Hydralazine | affects cotreatment, increases expression | 1 |
| Ivermectin | decreases expression | 1 |
| Plant Extracts | affects cotreatment, increases expression | 1 |
| Ribonucleotides | affects binding | 1 |
| Smoke | decreases expression | 1 |
| Tobacco Smoke Pollution | increases expression | 1 |
| Valproic Acid | affects cotreatment, increases expression | 1 |
| Aflatoxin B1 | affects cotreatment, decreases expression | 1 |
| Medroxyprogesterone Acetate | affects cotreatment, increases expression | 1 |
| beta-Naphthoflavone | affects cotreatment, decreases expression | 1 |
Clinical trials (associated diseases)
0 trials via MONDO — disease-level, not drug-specific.
Related Atlas pages
- Disease cohort memberships (association, not causation — diseases whose associated-gene cohort lists this gene; a subset are also under Associated diseases): developmental and epileptic encephalopathy, 26