DHX36
DEAH-box helicase 36, the group of DEAH-box helicases|DNA helicases
Basic information
Region (hg38): 3:154272546-154324487
Previous symbols: [ "DDX36" ]
Links
Phenotypes
GenCC
Source:
No genCC data.
ClinVar
This is a list of variants' phenotypes submitted to
Variants pathogenicity by type
Statistics on ClinVar variants can assist in determining whether a specific variant type in the DHX36 gene is commonly pathogenic or not.
In the table, we include only reliable ClinVar variants with their consequences to MANE Select, Mane Plus Clinical transcripts, or transcripts with TSL equals 1. Click the count to view the source variants.
Warning: slight differences between displayed counts and the number of variants in ClinVar may occur, primarily due to (1) the application of a different transcript and/or consequence by our variant effect predictor or (2) differences in clinical significance: we classify Benign/Likely benign variants as Likely benign and Pathogenic/Likely pathogenic variants as Likely pathogenic.
| Variant type | Pathogenic | Likely pathogenic | VUS | Likely benign | Benign | Sum |
|---|---|---|---|---|---|---|
| synonymous | 1 | |||||
| missense | 60 | 61 | ||||
| nonsense | 0 | |||||
| start loss | 0 | |||||
| frameshift | 0 | |||||
| inframe indel | 0 | |||||
| splice donor/acceptor (+/-2bp) | 0 | |||||
| splice region | 0 | |||||
| non coding | 0 | |||||
| Total | 0 | 0 | 60 | 2 | 0 |
Variants in DHX36
This is a list of pathogenic ClinVar variants found in the DHX36 region.
You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.
| Position | Type | Phenotype | Significance | ClinVar |
|---|---|---|---|---|
| 3-154276178-T-C | not specified | Uncertain significance (Mar 13, 2023) | ||
| 3-154276196-C-T | not specified | Uncertain significance (Oct 21, 2024) | ||
| 3-154276212-T-C | not specified | Uncertain significance (Jan 09, 2024) | ||
| 3-154276290-T-C | not specified | Uncertain significance (Apr 13, 2023) | ||
| 3-154276316-A-G | not specified | Uncertain significance (Feb 06, 2023) | ||
| 3-154276758-G-A | not specified | Uncertain significance (May 14, 2024) | ||
| 3-154276839-T-A | not specified | Uncertain significance (Aug 10, 2021) | ||
| 3-154276862-C-G | not specified | Uncertain significance (Feb 28, 2023) | ||
| 3-154276896-A-G | not specified | Uncertain significance (Mar 20, 2024) | ||
| 3-154277635-T-C | not specified | Uncertain significance (Jan 20, 2025) | ||
| 3-154277642-G-T | not specified | Uncertain significance (Jun 16, 2024) | ||
| 3-154277707-T-G | not specified | Uncertain significance (Jun 02, 2024) | ||
| 3-154280643-T-C | not specified | Uncertain significance (Apr 13, 2023) | ||
| 3-154283196-T-C | not specified | Uncertain significance (Sep 02, 2024) | ||
| 3-154283235-C-T | not specified | Uncertain significance (Sep 22, 2023) | ||
| 3-154283247-C-G | not specified | Uncertain significance (Jan 17, 2023) | ||
| 3-154283249-C-T | not specified | Uncertain significance (Jun 16, 2024) | ||
| 3-154283250-G-A | not specified | Uncertain significance (Dec 13, 2022) | ||
| 3-154284597-C-T | not specified | Uncertain significance (Jan 26, 2022) | ||
| 3-154284648-C-A | not specified | Uncertain significance (Jul 07, 2022) | ||
| 3-154284651-C-T | not specified | Uncertain significance (Jul 16, 2024) | ||
| 3-154284969-C-G | not specified | Uncertain significance (Apr 08, 2024) | ||
| 3-154288886-T-C | not specified | Uncertain significance (May 15, 2024) | ||
| 3-154288921-A-G | not specified | Uncertain significance (Dec 20, 2021) | ||
| 3-154289764-T-C | not specified | Uncertain significance (Apr 18, 2023) |
GnomAD
Source:
| Gene | Type | Bio Type | Transcript | Coding Exons | Length |
|---|---|---|---|---|---|
| DHX36 | protein_coding | protein_coding | ENST00000496811 | 25 | 51952 |
| pLI Probability LOF Intolerant | pRec Probability LOF Recessive | Individuals with no LOFs | Individuals with Homozygous LOFs | Individuals with Heterozygous LOFs | Defined | p |
|---|---|---|---|---|---|---|
| 0.472 | 0.528 | 125713 | 0 | 34 | 125747 | 0.000135 |
| Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible in Transcript | |
|---|---|---|---|---|---|---|
| Missense | 1.84 | 408 | 527 | 0.774 | 0.0000259 | 6633 |
| Missense in Polyphen | 88 | 182.09 | 0.48327 | 2249 | ||
| Synonymous | 0.0237 | 179 | 179 | 0.998 | 0.00000903 | 1839 |
| Loss of Function | 5.72 | 14 | 63.0 | 0.222 | 0.00000361 | 737 |
LoF frequencies by population
| Ethnicity | Sum of pLOFs | p |
|---|---|---|
| African & African-American | 0.000160 | 0.000159 |
| Ashkenazi Jewish | 0.000665 | 0.000595 |
| East Asian | 0.0000551 | 0.0000544 |
| Finnish | 0.000140 | 0.000139 |
| European (Non-Finnish) | 0.000145 | 0.000141 |
| Middle Eastern | 0.0000551 | 0.0000544 |
| South Asian | 0.000164 | 0.000163 |
| Other | 0.00 | 0.00 |
dbNSFP
Source:
- Function
- FUNCTION: Multifunctional ATP-dependent helicase that unwinds G- quadruplex (G4) structures (PubMed:16150737, PubMed:18854321, PubMed:20472641, PubMed:21586581). Plays a role in many biological processes such as genomic integrity, gene expression regulations and as a sensor to initiate antiviral responses (PubMed:14731398, PubMed:18279852, PubMed:21993297, PubMed:22238380, PubMed:25579584). G4 structures correspond to helical structures containing guanine tetrads (By similarity). Binds with high affinity to and unwinds G4 structures that are formed in nucleic acids (G4-ADN and G4-RNA) (PubMed:16150737, PubMed:18842585, PubMed:20472641, PubMed:21586581, PubMed:24369427, PubMed:26195789). Plays a role in genomic integrity (PubMed:22238380). Converts the G4-RNA structure present in telomerase RNA template component (TREC) into a double-stranded RNA to promote P1 helix formation that acts as a template boundary ensuring accurate reverse transcription (PubMed:20472641, PubMed:21149580, PubMed:21846770, PubMed:22238380, PubMed:24151078, PubMed:25579584). Plays a role in transcriptional regulation (PubMed:21586581, PubMed:21993297). Resolves G4-DNA structures in promoters of genes, such as YY1, KIT/c-kit and ALPL and positively regulates their expression (PubMed:21993297). Plays a role in post-transcriptional regulation (PubMed:27940037). Unwinds a G4-RNA structure located in the 3'-UTR polyadenylation site of the pre-mRNA TP53 and stimulates TP53 pre-mRNA 3'-end processing in response to ultraviolet (UV)-induced DNA damage (PubMed:27940037). Binds to the precursor-microRNA-134 (pre-miR- 134) terminal loop and regulates its transport into the synapto- dendritic compartment (By similarity). Involved in the pre-miR- 134-dependent inhibition of target gene expression and the control of dendritic spine size (By similarity). Plays a role in the regulation of cytoplasmic mRNA translation and mRNA stability (PubMed:24369427, PubMed:26489465). Binds to both G4-RNA structures and alternative non-quadruplex-forming sequence within the 3'-UTR of the PITX1 mRNA regulating negatively PITX1 protein expression (PubMed:24369427). Binds to both G4-RNA structure in the 5'-UTR and AU-rich elements (AREs) localized in the 3'-UTR of NKX2-5 mRNA to either stimulate protein translation or induce mRNA decay in an ELAVL1-dependent manner, respectively (PubMed:26489465). Binds also to ARE sequences present in several mRNAs mediating exosome-mediated 3'-5' mRNA degradation (PubMed:14731398, PubMed:18279852). Involved in cytoplasmic urokinase-type plasminogen activator (uPA) mRNA decay (PubMed:14731398). Component of a multi-helicase-TICAM1 complex that acts as a cytoplasmic sensor of viral double-stranded RNA (dsRNA) and plays a role in the activation of a cascade of antiviral responses including the induction of proinflammatory cytokines via the adapter molecule TICAM1 (By similarity). Required for early embryonic development and hematopoiesis. Involved in the regulation of cardioblast differentiation and proliferation during heart development. Involved in spermatogonia differentiation. May play a role in ossification (By similarity). {ECO:0000250|UniProtKB:D4A2Z8, ECO:0000250|UniProtKB:Q05B79, ECO:0000250|UniProtKB:Q8VHK9, ECO:0000269|PubMed:14731398, ECO:0000269|PubMed:16150737, ECO:0000269|PubMed:18279852, ECO:0000269|PubMed:18842585, ECO:0000269|PubMed:18854321, ECO:0000269|PubMed:20472641, ECO:0000269|PubMed:21149580, ECO:0000269|PubMed:21586581, ECO:0000269|PubMed:21846770, ECO:0000269|PubMed:21993297, ECO:0000269|PubMed:22238380, ECO:0000269|PubMed:24151078, ECO:0000269|PubMed:24369427, ECO:0000269|PubMed:25579584, ECO:0000269|PubMed:26195789, ECO:0000269|PubMed:26489465, ECO:0000269|PubMed:27940037}.;
- Pathway
- RNA degradation - Homo sapiens (human);Toll Like Receptor 7/8 (TLR7/8) Cascade;TRAF6 mediated IRF7 activation in TLR7/8 or 9 signaling;Toll Like Receptor 9 (TLR9) Cascade;Toll-Like Receptors Cascades;TRAF6 mediated IRF7 activation;DDX58/IFIH1-mediated induction of interferon-alpha/beta;DEx/H-box helicases activate type I IFN and inflammatory cytokines production ;Innate Immune System;Immune System;MyD88 dependent cascade initiated on endosome;Cytosolic sensors of pathogen-associated DNA
(Consensus)
Recessive Scores
- pRec
- 0.131
Intolerance Scores
- loftool
- 0.441
- rvis_EVS
- -1.06
- rvis_percentile_EVS
- 7.48
Haploinsufficiency Scores
- pHI
- 0.416
- hipred
- N
- hipred_score
- 0.488
- ghis
- 0.658
Essentials
- essential_gene_CRISPR
- E
- essential_gene_CRISPR2
- E
- essential_gene_gene_trap
- E
- gene_indispensability_pred
- E
- gene_indispensability_score
- 0.792
Gene Damage Prediction
| All | Recessive | Dominant | |
|---|---|---|---|
| Mendelian | High | Medium | Medium |
| Primary Immunodeficiency | High | High | High |
| Cancer | High | High | High |
Mouse Genome Informatics
- Gene name
- Dhx36
- Phenotype
- renal/urinary system phenotype; immune system phenotype; liver/biliary system phenotype; mortality/aging (the observable characteristics related to the ability of a mammalian organism to live and age that are manifested throughout development and life span); integument phenotype (the observable morphological and physiological characteristics of the skin and its associated structures, such as the hair, nails, sweat glands, sebaceous glands and other secretory glands that are manifested through development and lifespan); hematopoietic system phenotype; cellular phenotype; endocrine/exocrine gland phenotype;
Gene ontology
- Biological process
- ossification;positive regulation of myeloid dendritic cell cytokine production;regulation of transcription by RNA polymerase III;spermatogenesis;RNA secondary structure unwinding;positive regulation of gene expression;negative regulation of translation;positive regulation of mRNA 3'-end processing;positive regulation of telomere maintenance;positive regulation of type I interferon production;DNA duplex unwinding;cellular response to heat;cellular response to UV;positive regulation of I-kappaB kinase/NF-kappaB signaling;response to exogenous dsRNA;regulation of mRNA stability;G-quadruplex DNA unwinding;innate immune response;positive regulation of transcription by RNA polymerase II;regulation of embryonic development;defense response to virus;positive regulation of cardioblast differentiation;positive regulation of transcription initiation from RNA polymerase II promoter;positive regulation of dendritic spine morphogenesis;3'-UTR-mediated mRNA destabilization;telomerase RNA stabilization;positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay;positive regulation of hematopoietic progenitor cell differentiation;regulation of transcription from RNA polymerase II promoter involved in spermatogenesis;positive regulation of interferon-alpha secretion;cellular response to arsenite ion;positive regulation of telomere maintenance via telomere lengthening;positive regulation of intracellular mRNA localization;positive regulation of cytoplasmic translation
- Cellular component
- chromosome, telomeric region;nucleus;cytoplasm;mitochondrion;cytosol;cytoplasmic stress granule;nuclear speck;axon;dendrite;perikaryon;extracellular exosome
- Molecular function
- magnesium ion binding;RNA polymerase II proximal promoter sequence-specific DNA binding;G-quadruplex RNA binding;single-stranded DNA binding;RNA binding;double-stranded RNA binding;mRNA 3'-UTR binding;ATP-dependent DNA helicase activity;ATP-dependent RNA helicase activity;protein binding;ATP binding;DNA-dependent ATPase activity;ATP-dependent 3'-5' RNA helicase activity;mRNA 3'-UTR AU-rich region binding;histone deacetylase binding;transcription regulatory region DNA binding;mRNA 5'-UTR binding;G-quadruplex DNA binding;telomerase RNA binding;pre-miRNA binding