DHX29
Basic information
Region (hg38): 5:55256055-55307694
Previous symbols: [ "DDX29" ]
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 DHX29 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 | 63 | 65 | ||||
nonsense | 0 | |||||
start loss | 0 | |||||
frameshift | 0 | |||||
inframe indel | 0 | |||||
splice donor/acceptor (+/-2bp) | 0 | |||||
splice region | 0 | |||||
non coding | 0 | |||||
Total | 0 | 0 | 63 | 2 | 0 |
Variants in DHX29
This is a list of pathogenic ClinVar variants found in the DHX29 region.
You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.
Position | Type | Phenotype | Significance | ClinVar |
---|---|---|---|---|
5-55256516-G-A | not specified | Uncertain significance (Dec 19, 2022) | ||
5-55259851-C-G | not specified | Uncertain significance (Jun 21, 2022) | ||
5-55259857-A-G | not specified | Uncertain significance (Aug 04, 2023) | ||
5-55259890-C-T | not specified | Uncertain significance (May 27, 2022) | ||
5-55259905-C-T | not specified | Uncertain significance (Jul 27, 2021) | ||
5-55261403-G-A | not specified | Uncertain significance (Aug 22, 2023) | ||
5-55261418-C-T | not specified | Uncertain significance (Aug 21, 2023) | ||
5-55261462-A-C | not specified | Uncertain significance (Sep 12, 2023) | ||
5-55261472-C-G | not specified | Uncertain significance (Sep 30, 2024) | ||
5-55262631-T-C | not specified | Uncertain significance (Jun 10, 2024) | ||
5-55262687-G-T | not specified | Uncertain significance (May 26, 2024) | ||
5-55262705-T-G | not specified | Uncertain significance (May 23, 2023) | ||
5-55262719-C-T | not specified | Uncertain significance (Dec 27, 2023) | ||
5-55262886-G-A | not specified | Uncertain significance (Sep 16, 2021) | ||
5-55262887-A-G | not specified | Uncertain significance (Nov 03, 2022) | ||
5-55262896-C-T | not specified | Uncertain significance (Nov 11, 2024) | ||
5-55262899-C-T | not specified | Uncertain significance (Dec 06, 2021) | ||
5-55267176-T-C | not specified | Uncertain significance (Nov 09, 2024) | ||
5-55267179-G-A | not specified | Uncertain significance (Sep 26, 2024) | ||
5-55267707-G-A | not specified | Uncertain significance (Sep 18, 2024) | ||
5-55267707-G-T | not specified | Uncertain significance (Mar 01, 2024) | ||
5-55267755-G-A | not specified | Uncertain significance (Oct 04, 2024) | ||
5-55267767-C-T | not specified | Uncertain significance (Mar 17, 2023) | ||
5-55267771-C-A | not specified | Uncertain significance (Jan 30, 2024) | ||
5-55267774-T-C | not specified | Uncertain significance (Aug 28, 2023) |
GnomAD
Source:
Gene | Type | Bio Type | Transcript | Coding Exons | Length |
---|---|---|---|---|---|
DHX29 | protein_coding | protein_coding | ENST00000251636 | 27 | 51478 |
pLI Probability LOF Intolerant | pRec Probability LOF Recessive | Individuals with no LOFs | Individuals with Homozygous LOFs | Individuals with Heterozygous LOFs | Defined | p |
---|---|---|---|---|---|---|
3.77e-9 | 1.00 | 125676 | 0 | 72 | 125748 | 0.000286 |
Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible in Transcript | |
---|---|---|---|---|---|---|
Missense | 1.93 | 542 | 684 | 0.792 | 0.0000336 | 8954 |
Missense in Polyphen | 155 | 249.19 | 0.622 | 3167 | ||
Synonymous | 0.158 | 234 | 237 | 0.987 | 0.0000111 | 2571 |
Loss of Function | 4.89 | 28 | 73.2 | 0.383 | 0.00000393 | 935 |
LoF frequencies by population
Ethnicity | Sum of pLOFs | p |
---|---|---|
African & African-American | 0.000344 | 0.000344 |
Ashkenazi Jewish | 0.000601 | 0.000595 |
East Asian | 0.000498 | 0.000489 |
Finnish | 0.000186 | 0.000185 |
European (Non-Finnish) | 0.000295 | 0.000290 |
Middle Eastern | 0.000498 | 0.000489 |
South Asian | 0.000209 | 0.000196 |
Other | 0.000841 | 0.000815 |
dbNSFP
Source:
- Function
- FUNCTION: ATP-binding RNA helicase involved in translation initiation. Part of the 43S pre-initiation complex that is required for efficient initiation on mRNAs of higher eukaryotes with structured 5'-UTRs by promoting efficient NTPase-dependent 48S complex formation. Specifically binds to the 40S ribosome near the mRNA entrance. Does not possess a processive helicase activity. {ECO:0000255|HAMAP-Rule:MF_03068, ECO:0000269|PubMed:19109895, ECO:0000269|PubMed:23706745}.;
Recessive Scores
- pRec
- 0.102
Intolerance Scores
- loftool
- 0.811
- rvis_EVS
- -0.99
- rvis_percentile_EVS
- 8.6
Haploinsufficiency Scores
- pHI
- 0.687
- hipred
- N
- hipred_score
- 0.492
- ghis
- 0.630
Essentials
- essential_gene_CRISPR
- N
- essential_gene_CRISPR2
- S
- essential_gene_gene_trap
- K
- gene_indispensability_pred
- E
- gene_indispensability_score
- 0.960
Gene Damage Prediction
All | Recessive | Dominant | |
---|---|---|---|
Mendelian | Medium | Medium | Medium |
Primary Immunodeficiency | Medium | Medium | Medium |
Cancer | Medium | Medium | Medium |
Mouse Genome Informatics
- Gene name
- Dhx29
- 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); behavior/neurological phenotype (the observable actions or reactions of mammalian organisms that are manifested through development and lifespan);
Gene ontology
- Biological process
- translational initiation;positive regulation of translational initiation
- Cellular component
- eukaryotic 43S preinitiation complex
- Molecular function
- RNA binding;translation initiation factor activity;ATP binding;ATP-dependent 3'-5' RNA helicase activity;ribosomal small subunit binding;cadherin binding