DHX15
Basic information
Region (hg38): 4:24517441-24584554
Previous symbols: [ "DDX15" ]
Links
Phenotypes
GenCC
Source:
ClinVar
This is a list of variants' phenotypes submitted to
- not_specified (33 variants)
- not_provided (2 variants)
- Cerebral_white_matter_hypoplasia (1 variants)
- Intellectual_disability,_moderate (1 variants)
- Gray_matter_heterotopia (1 variants)
- Patent_ductus_arteriosus (1 variants)
- Abnormal_facial_shape (1 variants)
- Seizure (1 variants)
- Delayed_speech_and_language_development (1 variants)
- Periventricular_heterotopia (1 variants)
Variants pathogenicity by type
Statistics on ClinVar variants can assist in determining whether a specific variant type in the DHX15 gene is commonly pathogenic or not. These statistics are base on transcript: NM_000001358.3. Only rare variants are included in the table.
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.
| Effect | PathogenicP | Likely pathogenicLP | VUSVUS | Likely benignLB | BenignB | Sum |
|---|---|---|---|---|---|---|
| synonymous | 2 | |||||
| missense | 34 | 34 | ||||
| nonsense | 0 | |||||
| start loss | 0 | |||||
| frameshift | 0 | |||||
| splice donor/acceptor (+/-2bp) | 0 | |||||
| Total | 0 | 0 | 34 | 2 | 0 |
GnomAD
Source:
| Gene | Type | Bio Type | Transcript | Coding Exons | Length |
|---|---|---|---|---|---|
| DHX15 | protein_coding | protein_coding | ENST00000336812 | 14 | 67110 |
| pLI Probability LOF Intolerant | pRec Probability LOF Recessive | Individuals with no LOFs | Individuals with Homozygous LOFs | Individuals with Heterozygous LOFs | Defined | p |
|---|---|---|---|---|---|---|
| 1.00 | 4.08e-7 | 125717 | 0 | 2 | 125719 | 0.00000795 |
| Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible in Transcript | |
|---|---|---|---|---|---|---|
| Missense | 5.63 | 115 | 452 | 0.255 | 0.0000247 | 5195 |
| Missense in Polyphen | 7 | 190.01 | 0.036841 | 2214 | ||
| Synonymous | -0.446 | 156 | 149 | 1.05 | 0.00000753 | 1541 |
| Loss of Function | 6.10 | 1 | 45.3 | 0.0221 | 0.00000305 | 489 |
LoF frequencies by population
| Ethnicity | Sum of pLOFs | p |
|---|---|---|
| African & African-American | 0.00 | 0.00 |
| Ashkenazi Jewish | 0.00 | 0.00 |
| East Asian | 0.00 | 0.00 |
| Finnish | 0.00 | 0.00 |
| European (Non-Finnish) | 0.0000177 | 0.0000176 |
| Middle Eastern | 0.00 | 0.00 |
| South Asian | 0.00 | 0.00 |
| Other | 0.00 | 0.00 |
dbNSFP
Source:
- Function
- FUNCTION: Pre-mRNA processing factor involved in disassembly of spliceosomes after the release of mature mRNA. In cooperation with TFIP11 seem to be involved in the transition of the U2, U5 and U6 snRNP-containing IL complex to the snRNP-free IS complex leading to efficient debranching and turnover of excised introns. {ECO:0000269|PubMed:19103666}.;
- Pathway
- Spliceosome - Homo sapiens (human);miR-targeted genes in epithelium - TarBase;miR-targeted genes in lymphocytes - TarBase;miR-targeted genes in muscle cell - TarBase;mRNA Processing;Metabolism of RNA;mRNA Splicing - Major Pathway;mRNA Splicing;Processing of Capped Intron-Containing Pre-mRNA
(Consensus)
Recessive Scores
- pRec
- 0.450
Intolerance Scores
- loftool
- rvis_EVS
- -0.82
- rvis_percentile_EVS
- 11.68
Haploinsufficiency Scores
- pHI
- 0.984
- hipred
- Y
- hipred_score
- 0.783
- ghis
- 0.730
Essentials
- essential_gene_CRISPR
- E
- essential_gene_CRISPR2
- E
- essential_gene_gene_trap
- E
- gene_indispensability_pred
- E
- gene_indispensability_score
- 0.876
Gene Damage Prediction
| All | Recessive | Dominant | |
|---|---|---|---|
| Mendelian | Medium | Medium | Medium |
| Primary Immunodeficiency | Medium | Medium | Medium |
| Cancer | Medium | Medium | Medium |
Mouse Genome Informatics
- Gene name
- Dhx15
- Phenotype
Gene ontology
- Biological process
- mRNA splicing, via spliceosome;mRNA processing;RNA splicing;response to toxic substance;response to alkaloid
- Cellular component
- nucleus;nucleoplasm;U12-type spliceosomal complex;nucleolus;nuclear speck;U2-type post-mRNA release spliceosomal complex
- Molecular function
- RNA binding;RNA helicase activity;double-stranded RNA binding;protein binding;ATP binding;ATP-dependent 3'-5' RNA helicase activity