WDR93
Basic information
Region (hg38): 15:89690811-89743638
Links
Phenotypes
GenCC
Source:
- autism spectrum disorder (Limited), mode of inheritance: AR
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 WDR93 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 | 2 | |||||
missense | 28 | 30 | ||||
nonsense | 0 | |||||
start loss | 0 | |||||
frameshift | 0 | |||||
inframe indel | 0 | |||||
splice donor/acceptor (+/-2bp) | 0 | |||||
splice region | 1 | 1 | ||||
non coding | 0 | |||||
Total | 0 | 0 | 29 | 3 | 0 |
Variants in WDR93
This is a list of pathogenic ClinVar variants found in the WDR93 region.
You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.
Position | Type | Phenotype | Significance | ClinVar |
---|---|---|---|---|
15-89701765-A-T | not specified | Uncertain significance (Feb 14, 2024) | ||
15-89701790-C-T | not specified | Uncertain significance (Jan 26, 2023) | ||
15-89701793-T-C | not specified | Uncertain significance (Feb 10, 2022) | ||
15-89701880-A-T | not specified | Uncertain significance (Jun 18, 2024) | ||
15-89701885-G-C | not specified | Uncertain significance (Mar 15, 2024) | ||
15-89701936-G-C | not specified | Uncertain significance (Jun 30, 2022) | ||
15-89702010-G-C | not specified | Uncertain significance (Mar 15, 2024) | ||
15-89702026-T-C | Autistic spectrum disorder with isolated skills | Likely pathogenic (Dec 01, 2014) | ||
15-89702032-C-G | not specified | Uncertain significance (Nov 09, 2021) | ||
15-89703056-C-T | not specified | Likely benign (May 06, 2024) | ||
15-89705613-G-A | not specified | Uncertain significance (Mar 01, 2023) | ||
15-89712063-A-G | not specified | Uncertain significance (Nov 09, 2021) | ||
15-89712095-C-T | not specified | Uncertain significance (Apr 23, 2024) | ||
15-89714985-G-A | Uncertain significance (Dec 26, 2021) | |||
15-89715000-G-C | not specified | Uncertain significance (Mar 02, 2023) | ||
15-89715021-G-A | not specified | Uncertain significance (Sep 26, 2024) | ||
15-89715033-A-G | not specified | Uncertain significance (Oct 06, 2022) | ||
15-89715055-T-C | not specified | Uncertain significance (Nov 18, 2023) | ||
15-89715075-A-G | not specified | Uncertain significance (Sep 01, 2021) | ||
15-89715088-C-T | not specified | Likely benign (Apr 07, 2023) | ||
15-89715093-C-A | not specified | Uncertain significance (Dec 27, 2023) | ||
15-89722093-T-C | Uncertain significance (Jan 23, 2018) | |||
15-89722121-C-G | not specified | Uncertain significance (Sep 21, 2021) | ||
15-89727173-C-T | Likely benign (Mar 01, 2023) | |||
15-89727220-C-A | not specified | Uncertain significance (Jan 31, 2024) |
GnomAD
Source:
Gene | Type | Bio Type | Transcript | Coding Exons | Length |
---|---|---|---|---|---|
WDR93 | protein_coding | protein_coding | ENST00000268130 | 16 | 52842 |
pLI Probability LOF Intolerant | pRec Probability LOF Recessive | Individuals with no LOFs | Individuals with Homozygous LOFs | Individuals with Heterozygous LOFs | Defined | p |
---|---|---|---|---|---|---|
4.07e-17 | 0.142 | 125496 | 1 | 251 | 125748 | 0.00100 |
Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible in Transcript | |
---|---|---|---|---|---|---|
Missense | 0.212 | 360 | 372 | 0.969 | 0.0000185 | 4500 |
Missense in Polyphen | 89 | 106.23 | 0.83782 | 1375 | ||
Synonymous | 0.821 | 131 | 144 | 0.913 | 0.00000822 | 1284 |
Loss of Function | 1.22 | 30 | 38.1 | 0.787 | 0.00000195 | 432 |
LoF frequencies by population
Ethnicity | Sum of pLOFs | p |
---|---|---|
African & African-American | 0.00149 | 0.00149 |
Ashkenazi Jewish | 0.00238 | 0.00238 |
East Asian | 0.000109 | 0.000109 |
Finnish | 0.0000462 | 0.0000462 |
European (Non-Finnish) | 0.00123 | 0.00123 |
Middle Eastern | 0.000109 | 0.000109 |
South Asian | 0.00114 | 0.00111 |
Other | 0.00196 | 0.00196 |
dbNSFP
Source:
Intolerance Scores
- loftool
- 0.950
- rvis_EVS
- 1.76
- rvis_percentile_EVS
- 96.73
Haploinsufficiency Scores
- pHI
- 0.0520
- hipred
- N
- hipred_score
- 0.123
- ghis
Essentials
- essential_gene_CRISPR
- N
- essential_gene_CRISPR2
- N
- essential_gene_gene_trap
- N
- gene_indispensability_pred
- N
- gene_indispensability_score
- 0.0925
Gene Damage Prediction
All | Recessive | Dominant | |
---|---|---|---|
Mendelian | Medium | Medium | Medium |
Primary Immunodeficiency | Medium | Medium | High |
Cancer | Medium | Medium | Medium |
Mouse Genome Informatics
- Gene name
- Wdr93
- Phenotype
Gene ontology
- Biological process
- electron transport chain
- Cellular component
- mitochondrial respiratory chain complex I
- Molecular function
- NADH dehydrogenase (ubiquinone) activity