DHX35
DEAH-box helicase 35, the group of Spliceosomal C complex|DEAH-box helicases
Basic information
Region (hg38): 20:38962298-39039723
Previous symbols: [ "C20orf15", "DDX35" ]
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 DHX35 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 | 0 | |||||
| missense | 36 | 37 | ||||
| nonsense | 0 | |||||
| start loss | 0 | |||||
| frameshift | 0 | |||||
| inframe indel | 0 | |||||
| splice donor/acceptor (+/-2bp) | 0 | |||||
| splice region | 0 | |||||
| non coding | 0 | |||||
| Total | 0 | 0 | 36 | 1 | 0 |
Variants in DHX35
This is a list of pathogenic ClinVar variants found in the DHX35 region.
You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.
| Position | Type | Phenotype | Significance | ClinVar |
|---|---|---|---|---|
| 20-38969081-G-A | not specified | Uncertain significance (Oct 13, 2023) | ||
| 20-38969136-C-G | not specified | Uncertain significance (Feb 21, 2024) | ||
| 20-38969146-A-G | not specified | Uncertain significance (Nov 17, 2022) | ||
| 20-38969176-T-C | not specified | Uncertain significance (Jun 24, 2022) | ||
| 20-38969182-G-C | not specified | Uncertain significance (Mar 16, 2024) | ||
| 20-38969204-C-T | not specified | Uncertain significance (Aug 08, 2022) | ||
| 20-38972583-A-G | not specified | Likely benign (Jan 03, 2022) | ||
| 20-38983734-A-C | not specified | Uncertain significance (Mar 01, 2023) | ||
| 20-38983738-G-A | not specified | Uncertain significance (Mar 01, 2024) | ||
| 20-38983774-A-G | not specified | Uncertain significance (Apr 18, 2024) | ||
| 20-38988846-G-T | not specified | Uncertain significance (Oct 04, 2022) | ||
| 20-38988858-G-A | not specified | Uncertain significance (Apr 13, 2023) | ||
| 20-38988876-C-T | not specified | Uncertain significance (Jan 03, 2024) | ||
| 20-38988877-G-A | not specified | Uncertain significance (Dec 17, 2021) | ||
| 20-38988907-C-T | not specified | Uncertain significance (Jun 11, 2021) | ||
| 20-39001744-C-A | not specified | Uncertain significance (Apr 15, 2024) | ||
| 20-39001780-T-A | not specified | Uncertain significance (Jun 22, 2024) | ||
| 20-39001784-T-C | not specified | Uncertain significance (Feb 28, 2024) | ||
| 20-39001838-C-G | not specified | Uncertain significance (Sep 20, 2023) | ||
| 20-39002803-G-A | not specified | Uncertain significance (Jul 09, 2021) | ||
| 20-39003814-G-A | not specified | Uncertain significance (Dec 15, 2022) | ||
| 20-39006236-T-C | not specified | Uncertain significance (Jan 23, 2023) | ||
| 20-39006245-A-G | not specified | Uncertain significance (Oct 02, 2023) | ||
| 20-39006254-A-G | not specified | Uncertain significance (Apr 13, 2023) | ||
| 20-39006308-G-C | not specified | Uncertain significance (Jan 23, 2023) |
GnomAD
Source:
| Gene | Type | Bio Type | Transcript | Coding Exons | Length |
|---|---|---|---|---|---|
| DHX35 | protein_coding | protein_coding | ENST00000252011 | 22 | 77425 |
| pLI Probability LOF Intolerant | pRec Probability LOF Recessive | Individuals with no LOFs | Individuals with Homozygous LOFs | Individuals with Heterozygous LOFs | Defined | p |
|---|---|---|---|---|---|---|
| 4.37e-25 | 0.00412 | 125610 | 0 | 138 | 125748 | 0.000549 |
| Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible in Transcript | |
|---|---|---|---|---|---|---|
| Missense | 0.477 | 386 | 413 | 0.934 | 0.0000231 | 4561 |
| Missense in Polyphen | 133 | 147.04 | 0.90449 | 1597 | ||
| Synonymous | -0.430 | 162 | 155 | 1.04 | 0.00000954 | 1388 |
| Loss of Function | 0.816 | 41 | 47.0 | 0.872 | 0.00000270 | 501 |
LoF frequencies by population
| Ethnicity | Sum of pLOFs | p |
|---|---|---|
| African & African-American | 0.000841 | 0.000841 |
| Ashkenazi Jewish | 0.0000993 | 0.0000992 |
| East Asian | 0.000163 | 0.000163 |
| Finnish | 0.000186 | 0.000185 |
| European (Non-Finnish) | 0.000820 | 0.000818 |
| Middle Eastern | 0.000163 | 0.000163 |
| South Asian | 0.000426 | 0.000425 |
| Other | 0.000656 | 0.000652 |
dbNSFP
Source:
- Function
- FUNCTION: May be involved in pre-mRNA splicing.;
Recessive Scores
- pRec
- 0.0994
Intolerance Scores
- loftool
- 0.975
- rvis_EVS
- -0.33
- rvis_percentile_EVS
- 30.86
Haploinsufficiency Scores
- pHI
- 0.273
- hipred
- N
- hipred_score
- 0.426
- ghis
- 0.580
Essentials
- essential_gene_CRISPR
- N
- essential_gene_CRISPR2
- E
- essential_gene_gene_trap
- E
- gene_indispensability_pred
- E
- gene_indispensability_score
- 0.659
Gene Damage Prediction
| All | Recessive | Dominant | |
|---|---|---|---|
| Mendelian | Medium | Medium | Medium |
| Primary Immunodeficiency | Medium | Medium | Medium |
| Cancer | Medium | Medium | Medium |
Mouse Genome Informatics
- Gene name
- Dhx35
- Phenotype
- growth/size/body region phenotype; 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); endocrine/exocrine gland phenotype; nervous system phenotype (the observable morphological and physiological characteristics of the extensive, intricate network of electochemical structures in the body that is comprised of the brain, spinal cord, nerves, ganglia and parts of the receptor organs that are manifested through development and lifespan); craniofacial phenotype; vision/eye phenotype; cardiovascular system phenotype (the observable morphological and physiological characteristics of the mammalian heart, blood vessels, or circulatory system that are manifested through development and lifespan); 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); immune system phenotype; skeleton phenotype;
Gene ontology
- Biological process
- mRNA splicing, via spliceosome
- Cellular component
- catalytic step 2 spliceosome
- Molecular function
- RNA binding;ATP binding;ATP-dependent 3'-5' RNA helicase activity