DHX35
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Also known as FLJ22759KAIA0875
Summary
DHX35 (DEAH-box helicase 35, HGNC:15861) is a protein-coding gene on chromosome 20q11.23-q12, encoding Probable ATP-dependent RNA helicase DHX35 (Q9H5Z1). May be involved in pre-mRNA splicing. It is a selective cancer dependency (DepMap: 20.2% of 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 the DEAD box protein family are believed to be involved in embryogenesis, spermatogenesis, and cellular growth and division. The function of this gene product which is a member of this family, has not been determined. Alternatively spliced transcript variants have been found for this gene.
Source: NCBI Gene 60625 — RefSeq curated summary.
At a glance
- GWAS associations: 17
- Clinical variants (ClinVar): 117 total
- Druggable target: yes — 1 molecules with ChEMBL bioactivity
- Cancer dependency (DepMap): dependent in 20.2% of screened cell lines
- MANE Select transcript:
NM_021931
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:15861 |
| Approved symbol | DHX35 |
| Name | DEAH-box helicase 35 |
| Location | 20q11.23-q12 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | FLJ22759, KAIA0875 |
| Ensembl gene | ENSG00000101452 |
| Ensembl biotype | protein_coding |
| Entrez | 60625 |
Gene structure
Transcript identifiers
Ensembl transcripts: 13 — 9 protein_coding, 2 retained_intron, 2 nonsense_mediated_decay
ENST00000252011, ENST00000373323, ENST00000373325, ENST00000449559, ENST00000482619, ENST00000484417, ENST00000493450, ENST00000652169, ENST00000863972, ENST00000933117, ENST00000954514, ENST00000954515, ENST00000954516
RefSeq mRNA: 2 — MANE Select: NM_021931
NM_001190809, NM_021931
CCDS: CCDS13310, CCDS54463
Canonical transcript exons
ENST00000252011 — 22 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001597395 | 38969081 | 38969214 |
| ENSE00001693109 | 38988813 | 38988917 |
| ENSE00001726243 | 38983699 | 38983776 |
| ENSE00001755842 | 38972559 | 38972651 |
| ENSE00002216121 | 38962344 | 38962407 |
| ENSE00003464773 | 38991454 | 38991515 |
| ENSE00003481824 | 39023690 | 39023767 |
| ENSE00003488722 | 39002772 | 39002868 |
| ENSE00003491294 | 39030704 | 39030775 |
| ENSE00003508169 | 39014880 | 39014934 |
| ENSE00003519254 | 39028418 | 39028499 |
| ENSE00003524438 | 38992356 | 38992425 |
| ENSE00003529822 | 39038499 | 39039721 |
| ENSE00003556859 | 39001730 | 39001842 |
| ENSE00003597254 | 39006146 | 39006356 |
| ENSE00003622546 | 39003749 | 39003907 |
| ENSE00003624910 | 38994821 | 38994880 |
| ENSE00003635227 | 39010280 | 39010404 |
| ENSE00003641686 | 39018804 | 39018899 |
| ENSE00003653664 | 39034206 | 39034317 |
| ENSE00003675063 | 39025230 | 39025359 |
| ENSE00003677128 | 39021841 | 39021935 |
Expression profiles
Bgee: expression breadth ubiquitous, 216 present calls, max score 90.45.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 10.0363 / max 149.6492, expressed in 1768 samples.
FANTOM5 promoters (1 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 184597 | 10.0363 | 1768 |
Top tissues by expression
276 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| lower esophagus muscularis layer | UBERON:0035833 | 90.45 | gold quality |
| lower esophagus | UBERON:0013473 | 90.42 | gold quality |
| esophagogastric junction muscularis propria | UBERON:0035841 | 89.37 | gold quality |
| mucosa of stomach | UBERON:0001199 | 88.37 | gold quality |
| muscle layer of sigmoid colon | UBERON:0035805 | 88.35 | gold quality |
| lower esophagus mucosa | UBERON:0035834 | 88.22 | gold quality |
| body of uterus | UBERON:0009853 | 86.15 | gold quality |
| apex of heart | UBERON:0002098 | 85.99 | gold quality |
| right coronary artery | UBERON:0001625 | 85.95 | gold quality |
| esophagus | UBERON:0001043 | 85.73 | gold quality |
| tibial artery | UBERON:0007610 | 85.68 | gold quality |
| popliteal artery | UBERON:0002250 | 85.67 | gold quality |
| right atrium auricular region | UBERON:0006631 | 84.85 | gold quality |
| aorta | UBERON:0000947 | 84.77 | gold quality |
| male germ line stem cell (sensu Vertebrata) in testis | CL:0000089 ∩ UBERON:0000473 | 84.71 | gold quality |
| left coronary artery | UBERON:0001626 | 84.59 | gold quality |
| primordial germ cell in gonad | CL:0000670 ∩ UBERON:0000991 | 84.18 | gold quality |
| mucosa of transverse colon | UBERON:0004991 | 84.14 | gold quality |
| ascending aorta | UBERON:0001496 | 84.03 | gold quality |
| thoracic aorta | UBERON:0001515 | 83.96 | gold quality |
| transverse colon | UBERON:0001157 | 83.87 | gold quality |
| coronary artery | UBERON:0001621 | 82.98 | gold quality |
| endocervix | UBERON:0000458 | 82.93 | gold quality |
| rectum | UBERON:0001052 | 82.89 | gold quality |
| ectocervix | UBERON:0012249 | 82.80 | gold quality |
| descending thoracic aorta | UBERON:0002345 | 82.79 | gold quality |
| cardiac atrium | UBERON:0002081 | 82.77 | gold quality |
| left ovary | UBERON:0002119 | 82.68 | gold quality |
| left uterine tube | UBERON:0001303 | 82.46 | gold quality |
| right ovary | UBERON:0002118 | 82.32 | gold quality |
Single-cell (SCXA)
Detected in 1 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | yes | 5.64 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
64 targeting DHX35, 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-126-5P | 100.00 | 72.71 | 3180 |
| HSA-MIR-3163 | 100.00 | 77.23 | 8605 |
| HSA-MIR-340-5P | 100.00 | 72.50 | 4437 |
| HSA-MIR-3662 | 99.99 | 73.82 | 5684 |
| HSA-MIR-548C-3P | 99.99 | 74.01 | 7587 |
| HSA-MIR-1184 | 99.99 | 68.19 | 1458 |
| HSA-MIR-3688-3P | 99.97 | 72.02 | 2834 |
| HSA-MIR-495-3P | 99.96 | 72.81 | 4197 |
| HSA-MIR-5688 | 99.96 | 73.23 | 4504 |
| HSA-MIR-4487 | 99.96 | 64.58 | 1252 |
| HSA-MIR-6780A-5P | 99.88 | 66.69 | 2776 |
| HSA-MIR-4728-5P | 99.85 | 69.39 | 4718 |
| HSA-MIR-6785-5P | 99.82 | 68.68 | 4428 |
| HSA-MIR-4694-3P | 99.79 | 69.53 | 2640 |
| HSA-MIR-498-5P | 99.76 | 69.64 | 1807 |
| HSA-MIR-6794-5P | 99.76 | 66.38 | 1048 |
| HSA-MIR-3934-3P | 99.76 | 65.51 | 1351 |
| HSA-MIR-149-3P | 99.72 | 68.22 | 3963 |
| HSA-MIR-1200 | 99.71 | 70.42 | 1838 |
| HSA-MIR-4699-3P | 99.71 | 70.15 | 3142 |
| HSA-MIR-494-3P | 99.70 | 71.45 | 2795 |
| HSA-MIR-548M | 99.70 | 68.87 | 1749 |
| HSA-MIR-4716-3P | 99.69 | 66.73 | 1022 |
| HSA-MIR-6883-5P | 99.69 | 68.05 | 3785 |
| HSA-MIR-5093 | 99.67 | 69.26 | 2291 |
| HSA-MIR-4666A-5P | 99.41 | 69.72 | 1887 |
| HSA-MIR-548V | 99.29 | 69.47 | 1157 |
| HSA-MIR-3692-5P | 99.29 | 67.04 | 1421 |
| HSA-MIR-544B | 99.18 | 67.41 | 1632 |
| HSA-MIR-10524-5P | 99.05 | 66.08 | 963 |
Functional genomics
DepMap (CRISPR cell-line fitness): dependent in 20.2% of screened cell lines.
Literature-anchored findings (GeneRIF, showing 3)
- human DDX40gene, a new member of the DEAH-box protein family shares 53% and 43% amino acid identity with human DDX8 and yeast Drh1.DDX40 may play roles in pre-mRNA splicing, ribosome biogenesis and other RNA processing functions (PMID:12522690)
- DRH1 - a novel blood-based HPV tumour marker. (PMID:32535546)
- The RNA helicase DHX35 functions as a co-sensor for RIG-I-mediated innate immunity. (PMID:39037956)
Cross-species orthologs
6 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | dhx35 | ENSDARG00000063419 |
| mus_musculus | Dhx35 | ENSMUSG00000027655 |
| rattus_norvegicus | Dhx35 | ENSRNOG00000015928 |
| drosophila_melanogaster | CG3225 | FBGN0031631 |
| caenorhabditis_elegans | WBGENE00022056 | |
| caenorhabditis_elegans | WBGENE00022433 |
Paralogs (18): DHX33 (ENSG00000005100), YTHDC2 (ENSG00000047188), DHX29 (ENSG00000067248), DHX8 (ENSG00000067596), DHX32 (ENSG00000089876), DHX40 (ENSG00000108406), DHX15 (ENSG00000109606), HELB (ENSG00000127311), DHX30 (ENSG00000132153), DHX34 (ENSG00000134815), DHX9 (ENSG00000135829), DHX38 (ENSG00000140829), DQX1 (ENSG00000144045), DHX37 (ENSG00000150990), TDRD9 (ENSG00000156414), DHX57 (ENSG00000163214), DHX36 (ENSG00000174953), DHX16 (ENSG00000204560)
Protein
Protein identifiers
Probable ATP-dependent RNA helicase DHX35 — Q9H5Z1 (reviewed: Q9H5Z1)
Alternative names: DEAH box protein 35
All UniProt accessions (4): Q9H5Z1, F2Z2Z2, Q5THQ7, Q5THR1
UniProt curated annotations — full annotation on UniProt →
Function. May be involved in pre-mRNA splicing.
Subunit / interactions. Identified in the spliceosome C complex.
Similarity. Belongs to the DEAD box helicase family. DEAH subfamily.
Isoforms (2)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q9H5Z1-1 | 1 | yes |
| Q9H5Z1-2 | 2 |
RefSeq proteins (2): NP_001177738, NP_068750* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR001650 | Helicase_C-like | Domain |
| IPR002464 | DNA/RNA_helicase_DEAH_CS | Conserved_site |
| IPR007502 | Helicase-assoc_dom | Domain |
| IPR011709 | DEAD-box_helicase_OB_fold | Domain |
| IPR014001 | Helicase_ATP-bd | Domain |
| IPR027417 | P-loop_NTPase | Homologous_superfamily |
| IPR048333 | HA2_WH | Domain |
Pfam: PF00271, PF04408, PF07717, PF21010
Catalyzed reactions (Rhea), 1 shown:
- ATP + H2O = ADP + phosphate + H(+) (RHEA:13065)
UniProt features (10 total): domain 2, sequence variant 2, sequence conflict 2, chain 1, short sequence motif 1, binding site 1, splice variant 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q9H5Z1-F1 | 86.94 | 0.64 |
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): 77–84
Function
Pathways and Gene Ontology
Reactome pathways
1 pathways
| ID | Pathway |
|---|---|
| R-HSA-72163 | mRNA Splicing - Major Pathway |
MSigDB gene sets: 112 (showing top):
RNGTGGGC_UNKNOWN, GOBP_EMBRYO_DEVELOPMENT_ENDING_IN_BIRTH_OR_EGG_HATCHING, IVANOVA_HEMATOPOIESIS_LATE_PROGENITOR, TGACCTY_ERR1_Q2, GARGALOVIC_RESPONSE_TO_OXIDIZED_PHOSPHOLIPIDS_BLUE_DN, GOBP_IN_UTERO_EMBRYONIC_DEVELOPMENT, REACTOME_PROCESSING_OF_CAPPED_INTRON_CONTAINING_PRE_MRNA, USF_01, GOBP_RNA_SPLICING, REACTOME_MRNA_SPLICING, USF_02, GOBP_EMBRYO_DEVELOPMENT, chr20q11, ACEVEDO_LIVER_CANCER_UP, REACTOME_METABOLISM_OF_RNA
GO Biological Process (4): mRNA splicing, via spliceosome (GO:0000398), in utero embryonic development (GO:0001701), mRNA processing (GO:0006397), RNA splicing (GO:0008380)
GO Molecular Function (7): RNA binding (GO:0003723), RNA helicase activity (GO:0003724), helicase activity (GO:0004386), ATP binding (GO:0005524), ATP hydrolysis activity (GO:0016887), nucleotide binding (GO:0000166), hydrolase activity (GO:0016787)
GO Cellular Component (3): nucleoplasm (GO:0005654), catalytic step 2 spliceosome (GO:0071013), spliceosomal complex (GO:0005681)
Reactome top-level categories
Rollup of top-1 pathways:
| Category | Pathways |
|---|---|
| mRNA Splicing | 1 |
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| RNA processing | 2 |
| ATP-dependent activity | 2 |
| RNA splicing, via transesterification reactions with bulged adenosine as nucleophile | 1 |
| mRNA processing | 1 |
| chordate embryonic development | 1 |
| mRNA metabolic process | 1 |
| nucleic acid binding | 1 |
| helicase activity | 1 |
| ATP-dependent activity, acting on RNA | 1 |
| catalytic activity, acting on RNA | 1 |
| nucleic acid conformation isomerase activity | 1 |
| catalytic activity, acting on a nucleic acid | 1 |
| adenyl ribonucleotide binding | 1 |
| purine ribonucleoside triphosphate binding | 1 |
| ribonucleoside triphosphate phosphatase activity | 1 |
| nucleoside phosphate binding | 1 |
| heterocyclic compound binding | 1 |
| catalytic activity | 1 |
| nuclear lumen | 1 |
| cellular anatomical structure | 1 |
| Prp19 complex | 1 |
| spliceosomal complex | 1 |
| U5 snRNP | 1 |
| catalytic complex | 1 |
| nuclear protein-containing complex | 1 |
| ribonucleoprotein complex | 1 |
Protein interactions and networks
STRING
2752 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| DHX35 | ZNF676 | Q8N7Q3 | 667 |
| DHX35 | TBC1D31 | Q96DN5 | 625 |
| DHX35 | ZNF208 | O43345 | 575 |
| DHX35 | ACYP2 | P14621 | 571 |
| DHX35 | PXK | Q7Z7A4 | 529 |
| DHX35 | DDX23 | Q9BUQ8 | 522 |
| DHX35 | CTC1 | Q2NKJ3 | 521 |
| DHX35 | DDX49 | Q9Y6V7 | 508 |
| DHX35 | SMIM23 | A6NLE4 | 505 |
| DHX35 | STN1 | Q9H668 | 479 |
| DHX35 | DDX55 | Q8NHQ9 | 477 |
| DHX35 | RAB5IF | Q9BUV8 | 476 |
| DHX35 | SNRNP200 | O75643 | 462 |
| DHX35 | ITCH | Q96J02 | 443 |
| DHX35 | ZHX3 | Q9H4I2 | 437 |
| DHX35 | GGT7 | Q9UJ14 | 437 |
IntAct
97 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| SNRPF | GEMIN2 | psi-mi:“MI:0914”(association) | 0.910 |
| PPIE | AQR | psi-mi:“MI:0914”(association) | 0.810 |
| PRPF19 | AQR | psi-mi:“MI:0914”(association) | 0.790 |
| SNRPE | GEMIN2 | psi-mi:“MI:0914”(association) | 0.770 |
| ISY1 | AQR | psi-mi:“MI:0914”(association) | 0.740 |
| SYF2 | AQR | psi-mi:“MI:0914”(association) | 0.730 |
| SNRPG | GEMIN2 | psi-mi:“MI:0914”(association) | 0.710 |
| SNRPB | PRMT5 | psi-mi:“MI:0914”(association) | 0.670 |
| SNW1 | AQR | psi-mi:“MI:0914”(association) | 0.650 |
| NEUROG3 | GXYLT2 | psi-mi:“MI:0914”(association) | 0.640 |
| SNRPE | PRMT5 | psi-mi:“MI:0914”(association) | 0.530 |
| SNRPN | PRMT5 | psi-mi:“MI:0914”(association) | 0.530 |
| PRPF19 | STRN | psi-mi:“MI:0914”(association) | 0.530 |
| ZC3H18 | AQR | psi-mi:“MI:0914”(association) | 0.530 |
| KIAA1143 | AQR | psi-mi:“MI:0914”(association) | 0.530 |
| EAPP | SNRNP200 | psi-mi:“MI:0914”(association) | 0.530 |
| SNRPE | SNRPGP15 | psi-mi:“MI:0914”(association) | 0.530 |
| SNRPF | SNRPGP15 | psi-mi:“MI:0914”(association) | 0.530 |
| WDR83 | SH2B2 | psi-mi:“MI:0914”(association) | 0.530 |
| EFTUD2 | AQR | psi-mi:“MI:0914”(association) | 0.530 |
| PLRG1 | AQR | psi-mi:“MI:0914”(association) | 0.530 |
BioGRID (106): DHX35 (Affinity Capture-MS), DHX35 (Affinity Capture-MS), DHX35 (Affinity Capture-MS), DHX35 (Affinity Capture-MS), DHX35 (Affinity Capture-MS), DHX35 (Proximity Label-MS), DHX35 (Proximity Label-MS), DHX35 (Proximity Label-MS), DHX35 (Proximity Label-MS), DHX35 (Proximity Label-MS), DHX35 (Proximity Label-MS), DHX35 (Proximity Label-MS), DHX35 (Affinity Capture-MS), DHX35 (Affinity Capture-MS), DHX35 (Affinity Capture-MS)
ESM2 similar proteins: A0A0L0P6P7, A4I2L4, A5PKR8, A8D8P8, A9U328, A9VB27, A9ZSZ2, D3TQJ5, F4IE66, F4ISQ7, O22899, O43143, O54747, O60126, O61660, O70157, O76922, O95985, O96651, P13099, P54358, P90829, P97283, Q07803, Q08BB1, Q0J0S6, Q13472, Q20875, Q22307, Q23223, Q4P1V1, Q5R9V1, Q5RAZ4, Q5RBD4, Q5XQC7, Q7K3M5, Q80VY9, Q8K0D5, Q8T2T7, Q96RP9
Diamond homologs: A1Z9L3, A2A4P0, B4GEU5, B4JT42, B4K5R2, B4RC48, D4A2Z8, F4HYJ7, F4IE66, F4IJV4, F4ILR7, F4IM84, F4JMJ3, F4JRJ6, F4K2E9, F4KGU4, O17438, O22243, O22899, O35286, O42643, O42945, O43143, O45244, O46072, O51767, O60114, O60231, O70133, O94536, P0C7L7, P0CE10, P15938, P20095, P24384, P34305, P34498, P36009, P37024, P43329
SIGNOR signaling
0 interactions.
Enriched among interaction partners
Reactome pathways and GO biological processes over-represented among this gene’s 89 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 |
|---|---|---|---|
| Metabolism of non-coding RNA | 6 | 68.0× | 8e-09 |
| mRNA Splicing - Minor Pathway | 8 | 32.0× | 6e-09 |
| mRNA Splicing | 14 | 27.4× | 7e-15 |
| snRNP Assembly | 7 | 26.4× | 2e-07 |
| SARS-CoV-2 modulates host translation machinery | 6 | 24.0× | 4e-06 |
| RNA Polymerase II Transcription Termination | 6 | 23.5× | 4e-06 |
| Processing of Capped Intron-Containing Pre-mRNA | 14 | 20.5× | 2e-13 |
| mRNA Splicing - Major Pathway | 21 | 20.5× | 3e-20 |
GO biological processes:
| GO term | Partners | Fold | FDR |
|---|---|---|---|
| spliceosomal snRNP assembly | 8 | 62.8× | 8e-11 |
| U2-type prespliceosome assembly | 5 | 42.2× | 1e-05 |
| mRNA splicing, via spliceosome | 20 | 24.8× | 3e-20 |
| RNA splicing | 10 | 11.9× | 1e-06 |
| intracellular protein localization | 6 | 8.5× | 4e-03 |
Disease & clinical
Clinical variants and AI predictions
ClinVar
117 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 87 |
| Likely benign | 2 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
4166 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 20:38969076:TGCAG:T | acceptor_loss | 1.0000 |
| 20:38969077:GCAGG:G | acceptor_loss | 1.0000 |
| 20:38969078:CA:C | acceptor_loss | 1.0000 |
| 20:38969080:GGT:G | acceptor_loss | 1.0000 |
| 20:38969213:AGG:A | donor_loss | 1.0000 |
| 20:38969215:G:GC | donor_loss | 1.0000 |
| 20:38969216:T:A | donor_loss | 1.0000 |
| 20:38970725:T:TA | donor_gain | 1.0000 |
| 20:38970726:A:AA | donor_gain | 1.0000 |
| 20:38983697:A:AG | acceptor_gain | 1.0000 |
| 20:38983698:G:GA | acceptor_gain | 1.0000 |
| 20:38983777:G:GG | donor_gain | 1.0000 |
| 20:38988791:AGCAT:A | acceptor_gain | 1.0000 |
| 20:38988792:GCATG:G | acceptor_gain | 1.0000 |
| 20:38988915:AAGG:A | donor_loss | 1.0000 |
| 20:38988918:G:GA | donor_loss | 1.0000 |
| 20:38988919:T:G | donor_loss | 1.0000 |
| 20:38992353:TA:T | acceptor_loss | 1.0000 |
| 20:38992354:A:AG | acceptor_gain | 1.0000 |
| 20:38992355:G:GA | acceptor_gain | 1.0000 |
| 20:38992355:GT:G | acceptor_gain | 1.0000 |
| 20:38992355:GTGT:G | acceptor_gain | 1.0000 |
| 20:38992355:GTGTC:G | acceptor_gain | 1.0000 |
| 20:38992426:G:GA | donor_loss | 1.0000 |
| 20:38994878:GAC:G | donor_gain | 1.0000 |
| 20:38994881:G:GG | donor_gain | 1.0000 |
| 20:39002770:A:AG | acceptor_gain | 1.0000 |
| 20:39002771:G:GA | acceptor_gain | 1.0000 |
| 20:39002771:GT:G | acceptor_gain | 1.0000 |
| 20:39002771:GTC:G | acceptor_gain | 1.0000 |
AlphaMissense
4584 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 20:39010358:T:C | L434P | 1.000 |
| 20:38972628:G:T | G82W | 0.999 |
| 20:38972629:G:A | G82E | 0.999 |
| 20:38972629:G:T | G82V | 0.999 |
| 20:38972634:A:C | S84R | 0.999 |
| 20:38972636:C:A | S84R | 0.999 |
| 20:38972636:C:G | S84R | 0.999 |
| 20:38983766:C:A | A112D | 0.999 |
| 20:38988828:G:C | A121P | 0.999 |
| 20:38988865:G:A | G133D | 0.999 |
| 20:38988879:T:C | F138L | 0.999 |
| 20:38988881:T:A | F138L | 0.999 |
| 20:38988881:T:G | F138L | 0.999 |
| 20:38991461:C:T | T153I | 0.999 |
| 20:38992370:A:C | D176A | 0.999 |
| 20:38992370:A:T | D176V | 0.999 |
| 20:38992373:A:T | E177V | 0.999 |
| 20:38992399:G:C | D186H | 0.999 |
| 20:39002854:T:C | F280L | 0.999 |
| 20:39002856:T:A | F280L | 0.999 |
| 20:39002856:T:G | F280L | 0.999 |
| 20:39006155:G:C | A341P | 0.999 |
| 20:39006168:C:A | A345E | 0.999 |
| 20:39006293:G:C | A387P | 0.999 |
| 20:39006301:G:C | Q389H | 0.999 |
| 20:39006301:G:T | Q389H | 0.999 |
| 20:39010328:G:C | R424P | 0.999 |
| 20:39010367:T:C | L437P | 0.999 |
| 20:39021880:C:A | A513D | 0.999 |
| 20:39023723:G:C | G543R | 0.999 |
dbSNP variants (sampled 300 via entrez): RS1000097166 (20:39008064 C>T), RS1000182806 (20:38999133 C>T), RS1000265905 (20:38967010 A>G), RS1000267686 (20:39013480 C>T), RS1000279986 (20:38969450 A>G), RS1000290239 (20:38996019 T>C), RS1000290941 (20:39000600 G>A), RS1000326551 (20:38960855 G>A), RS1000344405 (20:39025967 A>G), RS1000358035 (20:38978343 T>G), RS1000387028 (20:39002448 T>A), RS1000466546 (20:38963086 C>A,G,T), RS1000538339 (20:38962240 T>C), RS1000543249 (20:39010086 T>C), RS1000615645 (20:38968424 C>A,T)
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
17 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST001024_4 | Telomere length | 3.000000e-07 |
| GCST001066_2 | Dialysis-related mortality | 5.000000e-07 |
| GCST001942_4 | Prostate cancer | 4.000000e-08 |
| GCST003989_11 | Chin dimples | 2.000000e-22 |
| GCST003999_17 | Nose size | 7.000000e-08 |
| GCST004691_5 | Huntington’s disease progression | 2.000000e-06 |
| GCST004862_13 | Itch intensity from mosquito bite adjusted by bite size | 9.000000e-06 |
| GCST006035_6 | Breast cancer and/or colorectal cancer | 6.000000e-06 |
| GCST006035_9 | Breast cancer and/or colorectal cancer | 9.000000e-06 |
| GCST006110_8 | Nose morphology | 2.000000e-09 |
| GCST008870_54 | Keratinocyte cancer (MTAG) | 6.000000e-06 |
| GCST008871_3 | Basal cell carcinoma | 3.000000e-08 |
| GCST009391_1086 | Metabolite levels | 2.000000e-06 |
| GCST009391_2037 | Metabolite levels | 4.000000e-06 |
| GCST012490_240 | Femur bone mineral density x serum urate levels interaction | 8.000000e-10 |
| GCST90011899_56 | Aspartate aminotransferase levels | 1.000000e-08 |
| GCST90011900_8 | Serum alkaline phosphatase levels | 2.000000e-19 |
EFO canonical traits (9, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0008336 | disease progression measurement |
| EFO:0008377 | mosquito bite reaction itch intensity measurement |
| EFO:0008378 | mosquito bite reaction size measurement |
| EFO:0010176 | keratinocyte carcinoma |
| EFO:0010543 | uridine diphosphate galactose measurement |
| EFO:0010544 | uridine diphosphate glucose measurement |
| EFO:0004531 | urate measurement |
| EFO:0004736 | aspartate aminotransferase measurement |
| EFO:0004533 | alkaline phosphatase measurement |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: yes
ChEMBL targets (1): CHEMBL5465358 (SINGLE PROTEIN)
Molecules with ChEMBL bioactivity
1 molecules (phase ≥1), by development phase (incl. off-target/promiscuous compounds). Patent mentions across the top 20 by phase: 1,538 (via chembl_molecule»patent_compound — counts attach to the compound, not the gene–compound relationship, so off-target/promiscuous molecules can dominate).
| Molecule | Name | Phase | Patents |
|---|---|---|---|
| CHEMBL1232461 | MOLIBRESIB | 2 | 1,538 |
PharmGKB: 1 entry (VIP=true, CPIC=false)
ChEMBL bioactivities
2 potent at pChembl≥5 of 2 total, top 2 by pChembl (potency: 10 = 0.1 nM, 6 = 1 µM).
| pChembl | Type | Value | Unit | Molecule |
|---|---|---|---|---|
| 6.91 | Kd | 124 | nM | MOLIBRESIB |
| 6.80 | IC50 | 160 | nM | MOLIBRESIB |
PubChem BioAssay actives
2 with measured affinity, of 8 total; 1 most potent distinct compounds. Largely complementary to BindingDB; screening values are coarse (µM, 4 dp), so sub-nM hits tie at the floor.
| Compound | Assay | Type | Value | Unit |
|---|---|---|---|---|
| 2-[(4S)-6-(4-chlorophenyl)-8-methoxy-1-methyl-4H-[1,2,4]triazolo[4,3-a][1,4]benzodiazepin-4-yl]-N-ethylacetamide | 2179185: Binding affinity against DHX35 (unknown origin) assessed as apparent dissociation constant incubated for 1 hr by colloidal coomassie staining based LC-MS/MS analysis | kd | 0.1240 | uM |
CTD chemical–gene interactions
29 total (human), top 29 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| sodium arsenite | affects cotreatment, increases abundance, decreases expression | 2 |
| Valproic Acid | decreases methylation, decreases expression | 2 |
| Aflatoxin B1 | decreases methylation, increases methylation | 2 |
| triphenyl phosphate | affects expression | 1 |
| bisphenol A | decreases methylation | 1 |
| beta-lapachone | increases expression | 1 |
| manganese chloride | affects cotreatment, decreases expression, increases abundance | 1 |
| benzo(e)pyrene | increases methylation | 1 |
| potassium chromate(VI) | affects cotreatment, decreases expression | 1 |
| epigallocatechin gallate | decreases expression, affects cotreatment | 1 |
| CGP 52608 | affects binding, increases reaction | 1 |
| abrine | increases expression | 1 |
| Resveratrol | affects cotreatment, increases expression | 1 |
| Temozolomide | decreases expression | 1 |
| Zoledronic Acid | increases expression | 1 |
| Arsenic | affects cotreatment, decreases expression, increases abundance | 1 |
| Vehicle Emissions | increases expression, increases abundance | 1 |
| Cadmium | decreases expression, decreases reaction | 1 |
| Doxorubicin | decreases expression | 1 |
| Lead | affects expression | 1 |
| Manganese | affects cotreatment, decreases expression, increases abundance | 1 |
| Methapyrilene | increases methylation | 1 |
| Plant Extracts | affects cotreatment, increases expression | 1 |
| Selenium | decreases expression, decreases reaction | 1 |
| Tobacco Smoke Pollution | decreases expression | 1 |
| Okadaic Acid | decreases expression | 1 |
| Lactic Acid | increases expression | 1 |
| Vitamin K 3 | affects expression | 1 |
| Particulate Matter | increases abundance, increases expression | 1 |
ChEMBL screening assays
8 unique, capped per target: 8 binding
Representative assays (with source publication via chembl_document):
| Assay ID | Type | Description | Source paper |
|---|---|---|---|
| CHEMBL5391278 | Binding | Inhibition of N-terminal thioredoxin-tagged human recombinant DHX35 transformed in Escherichia coli BL21(DE3)pLysS cells | Development of small molecule inhibitors targeting RNA helicase DHX33 as anti-cancer agents. — Bioorg Med Chem Lett |
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): basal cell carcinoma, chronic kidney disease, Huntington disease