DHX8
Basic information
Region (hg38): 17:43483865-43610338
Previous symbols: [ "DDX8" ]
Links
Phenotypes
GenCC
Source:
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 DHX8 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 | 31 | 31 | ||||
nonsense | 0 | |||||
start loss | 0 | |||||
frameshift | 0 | |||||
inframe indel | 0 | |||||
splice donor/acceptor (+/-2bp) | 0 | |||||
splice region | 1 | 1 | ||||
non coding | 14 | 22 | ||||
Total | 0 | 0 | 38 | 2 | 14 |
Variants in DHX8
This is a list of pathogenic ClinVar variants found in the DHX8 region.
You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.
Position | Type | Phenotype | Significance | ClinVar |
---|---|---|---|---|
17-43484041-G-T | not specified | Uncertain significance (May 23, 2023) | ||
17-43484063-G-T | not specified | Uncertain significance (Dec 19, 2023) | ||
17-43484065-G-T | not specified | Uncertain significance (Feb 14, 2023) | ||
17-43484092-G-A | not specified | Uncertain significance (Dec 13, 2022) | ||
17-43484177-A-G | not specified | Uncertain significance (Jan 02, 2024) | ||
17-43489461-T-C | not specified | Uncertain significance (Jul 12, 2022) | ||
17-43489511-G-A | not specified | Uncertain significance (Apr 25, 2023) | ||
17-43489515-A-C | not specified | Uncertain significance (May 26, 2024) | ||
17-43490442-G-A | not specified | Uncertain significance (Feb 03, 2022) | ||
17-43491179-C-T | not specified | Uncertain significance (Mar 06, 2023) | ||
17-43492689-C-T | not specified | Uncertain significance (Sep 22, 2023) | ||
17-43492700-A-C | not specified | Uncertain significance (Dec 07, 2021) | ||
17-43492703-C-T | not specified | Uncertain significance (Feb 28, 2023) | ||
17-43492710-G-A | not specified | Uncertain significance (Nov 15, 2021) | ||
17-43492736-G-C | not specified | Uncertain significance (May 11, 2022) | ||
17-43492758-G-A | not specified | Uncertain significance (Mar 20, 2023) | ||
17-43492770-A-T | not specified | Uncertain significance (Jan 04, 2022) | ||
17-43492911-A-T | not specified | Uncertain significance (Mar 22, 2023) | ||
17-43492980-A-G | not specified | Uncertain significance (Feb 26, 2024) | ||
17-43493036-C-G | not specified | Uncertain significance (Dec 27, 2022) | ||
17-43493486-G-A | not specified | Uncertain significance (May 26, 2024) | ||
17-43493489-A-C | not specified | Uncertain significance (Jan 02, 2024) | ||
17-43493534-G-A | not specified | Uncertain significance (Mar 31, 2024) | ||
17-43493737-G-A | not specified | Uncertain significance (Jun 29, 2023) | ||
17-43504644-C-T | not specified | Uncertain significance (Apr 22, 2024) |
GnomAD
Source:
Gene | Type | Bio Type | Transcript | Coding Exons | Length |
---|---|---|---|---|---|
DHX8 | protein_coding | protein_coding | ENST00000262415 | 23 | 60599 |
pLI Probability LOF Intolerant | pRec Probability LOF Recessive | Individuals with no LOFs | Individuals with Homozygous LOFs | Individuals with Heterozygous LOFs | Defined | p |
---|---|---|---|---|---|---|
9.15e-7 | 1.00 | 125675 | 0 | 72 | 125747 | 0.000286 |
Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible in Transcript | |
---|---|---|---|---|---|---|
Missense | 5.03 | 338 | 717 | 0.471 | 0.0000418 | 8015 |
Missense in Polyphen | 52 | 228.18 | 0.22789 | 2704 | ||
Synonymous | 0.416 | 247 | 255 | 0.967 | 0.0000132 | 2401 |
Loss of Function | 4.89 | 23 | 65.8 | 0.350 | 0.00000409 | 708 |
LoF frequencies by population
Ethnicity | Sum of pLOFs | p |
---|---|---|
African & African-American | 0.000858 | 0.000857 |
Ashkenazi Jewish | 0.0000992 | 0.0000992 |
East Asian | 0.000163 | 0.000163 |
Finnish | 0.0000462 | 0.0000462 |
European (Non-Finnish) | 0.000336 | 0.000334 |
Middle Eastern | 0.000163 | 0.000163 |
South Asian | 0.000131 | 0.000131 |
Other | 0.000163 | 0.000163 |
dbNSFP
Source:
- Function
- FUNCTION: Involved in pre-mRNA splicing as component of the spliceosome (PubMed:11991638, PubMed:28502770, PubMed:28076346). Facilitates nuclear export of spliced mRNA by releasing the RNA from the spliceosome (PubMed:8608946). {ECO:0000269|PubMed:11991638, ECO:0000269|PubMed:28076346, ECO:0000269|PubMed:28502770, ECO:0000269|PubMed:8608946}.;
- Pathway
- Spliceosome - Homo sapiens (human);mRNA Processing
(Consensus)
Recessive Scores
- pRec
- 0.0959
Intolerance Scores
- loftool
- 0.595
- rvis_EVS
- -1.06
- rvis_percentile_EVS
- 7.48
Haploinsufficiency Scores
- pHI
- 0.325
- hipred
- Y
- hipred_score
- 0.648
- ghis
- 0.586
Essentials
- essential_gene_CRISPR
- E
- essential_gene_CRISPR2
- E
- essential_gene_gene_trap
- E
- gene_indispensability_pred
- E
- gene_indispensability_score
- 0.974
Gene Damage Prediction
All | Recessive | Dominant | |
---|---|---|---|
Mendelian | Medium | Medium | Medium |
Primary Immunodeficiency | Medium | Medium | Medium |
Cancer | Medium | Medium | Medium |
Mouse Genome Informatics
- Gene name
- Dhx8
- Phenotype
Zebrafish Information Network
- Gene name
- dhx8
- Affected structure
- blood cell
- Phenotype tag
- abnormal
- Phenotype quality
- absent
Gene ontology
- Biological process
- spliceosomal complex disassembly;mRNA splicing, via spliceosome;RNA processing;RNA splicing
- Cellular component
- nucleus;nucleoplasm;spliceosomal complex;nuclear body;U2-type catalytic step 2 spliceosome;catalytic step 2 spliceosome
- Molecular function
- RNA binding;ATP-dependent RNA helicase activity;protein binding;ATP binding;ATP-dependent 3'-5' RNA helicase activity;identical protein binding