DHX38
Basic information
Region (hg38): 16:72093613-72112912
Previous symbols: [ "DDX38" ]
Links
Phenotypes
GenCC
Source:
- retinitis pigmentosa 84 (Strong), mode of inheritance: AR
- retinitis pigmentosa (Supportive), mode of inheritance: AD
- retinitis pigmentosa 84 (Limited), mode of inheritance: AR
Clinical Genomic Database
Source:
Condition | Inheritance | Intervention Categories | Intervention/Rationale | Manifestation Categories | References |
---|---|---|---|---|---|
Retinitis pigmentosa 84 | AR | General | Genetic knowledge may be beneficial related to issues such as selection of optimal supportive care, informed medical decision-making, prognostic considerations, and avoidance of unnecessary testing | Ophthalmologic | 24737827; 30208423 |
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 DHX38 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 | 219 | 13 | 241 | |||
missense | 347 | 361 | ||||
nonsense | 12 | 13 | ||||
start loss | 0 | |||||
frameshift | 6 | |||||
inframe indel | 4 | |||||
splice donor/acceptor (+/-2bp) | 4 | |||||
splice region | 22 | 35 | 3 | 60 | ||
non coding | 91 | 101 | ||||
Total | 0 | 3 | 383 | 319 | 25 |
Variants in DHX38
This is a list of pathogenic ClinVar variants found in the DHX38 region.
You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.
Position | Type | Phenotype | Significance | ClinVar |
---|---|---|---|---|
16-72096163-G-A | Likely benign (Jul 28, 2023) | |||
16-72096167-A-T | Uncertain significance (Mar 23, 2021) | |||
16-72096184-G-A | Likely benign (Sep 15, 2021) | |||
16-72096189-A-G | Uncertain significance (May 27, 2022) | |||
16-72096191-C-G | Uncertain significance (May 20, 2022) | |||
16-72096191-C-T | Uncertain significance (Feb 09, 2022) | |||
16-72096196-G-A | Likely benign (May 05, 2023) | |||
16-72096204-C-G | Benign (Jan 31, 2024) | |||
16-72096212-G-A | Retinitis pigmentosa 84 • Retinal dystrophy | Uncertain significance (Jan 01, 2023) | ||
16-72096219-AGGTTGGT-A | Uncertain significance (Jun 24, 2022) | |||
16-72096221-G-A | Uncertain significance (Aug 28, 2021) | |||
16-72096225-G-C | not specified | Uncertain significance (Dec 11, 2023) | ||
16-72096226-T-C | Retinal dystrophy | Benign (Jan 31, 2024) | ||
16-72096241-G-A | not specified • DHX38-related disorder | Benign (Jan 19, 2024) | ||
16-72096246-A-G | Uncertain significance (Jul 30, 2022) | |||
16-72096250-T-C | Likely benign (Dec 04, 2023) | |||
16-72096252-C-T | Uncertain significance (Apr 24, 2023) | |||
16-72096253-G-A | Likely benign (Sep 27, 2022) | |||
16-72096255-C-T | Uncertain significance (Feb 24, 2022) | |||
16-72096259-C-T | Likely benign (Jul 19, 2022) | |||
16-72096280-T-C | Likely benign (Jun 13, 2023) | |||
16-72096286-T-C | Likely benign (Jul 21, 2023) | |||
16-72096290-C-T | Uncertain significance (Jul 15, 2022) | |||
16-72096291-G-A | not specified | Uncertain significance (Feb 05, 2024) | ||
16-72096292-C-A | Likely benign (Jun 13, 2023) |
GnomAD
Source:
Gene | Type | Bio Type | Transcript | Coding Exons | Length |
---|---|---|---|---|---|
DHX38 | protein_coding | protein_coding | ENST00000268482 | 26 | 19351 |
pLI Probability LOF Intolerant | pRec Probability LOF Recessive | Individuals with no LOFs | Individuals with Homozygous LOFs | Individuals with Heterozygous LOFs | Defined | p |
---|---|---|---|---|---|---|
2.11e-12 | 1.00 | 125696 | 0 | 52 | 125748 | 0.000207 |
Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible in Transcript | |
---|---|---|---|---|---|---|
Missense | 2.67 | 578 | 789 | 0.732 | 0.0000517 | 8012 |
Missense in Polyphen | 166 | 297.44 | 0.5581 | 2957 | ||
Synonymous | 0.192 | 312 | 316 | 0.986 | 0.0000213 | 2370 |
Loss of Function | 4.27 | 32 | 70.8 | 0.452 | 0.00000404 | 755 |
LoF frequencies by population
Ethnicity | Sum of pLOFs | p |
---|---|---|
African & African-American | 0.000300 | 0.000300 |
Ashkenazi Jewish | 0.000199 | 0.000198 |
East Asian | 0.000327 | 0.000326 |
Finnish | 0.0000929 | 0.0000924 |
European (Non-Finnish) | 0.000233 | 0.000229 |
Middle Eastern | 0.000327 | 0.000326 |
South Asian | 0.000262 | 0.000261 |
Other | 0.000163 | 0.000163 |
dbNSFP
Source:
- Function
- FUNCTION: Probable ATP-binding RNA helicase involved in pre-mRNA splicing.;
- Pathway
- Spliceosome - Homo sapiens (human);mRNA Processing;Gene expression (Transcription);RNA Polymerase II Transcription;Metabolism of RNA;Cleavage of Growing Transcript in the Termination Region ;RNA Polymerase II Transcription Termination;mRNA Splicing - Major Pathway;Transport of Mature mRNA derived from an Intron-Containing Transcript;mRNA Splicing;mRNA 3,-end processing;Transport of Mature Transcript to Cytoplasm;Processing of Capped Intron-Containing Pre-mRNA
(Consensus)
Recessive Scores
- pRec
- 0.140
Intolerance Scores
- loftool
- 0.658
- rvis_EVS
- -1.14
- rvis_percentile_EVS
- 6.36
Haploinsufficiency Scores
- pHI
- 0.102
- hipred
- Y
- hipred_score
- 0.648
- ghis
- 0.571
Essentials
- essential_gene_CRISPR
- E
- essential_gene_CRISPR2
- E
- essential_gene_gene_trap
- E
- gene_indispensability_pred
- E
- gene_indispensability_score
- 0.835
Gene Damage Prediction
All | Recessive | Dominant | |
---|---|---|---|
Mendelian | Medium | Medium | Medium |
Primary Immunodeficiency | Medium | Medium | Medium |
Cancer | Medium | Medium | Medium |
Mouse Genome Informatics
- Gene name
- Dhx38
- Phenotype
Gene ontology
- Biological process
- mRNA splicing, via spliceosome;RNA export from nucleus;mRNA export from nucleus;mRNA 3'-end processing
- Cellular component
- nucleus;nucleoplasm;membrane;catalytic step 2 spliceosome
- Molecular function
- RNA binding;protein binding;ATP binding;ATP-dependent 3'-5' RNA helicase activity