KRTAP10-1
Basic information
Region (hg38): 21:44538981-44540195
Previous symbols: [ "KRTAP18-1" ]
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 KRTAP10-1 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 | 29 | 38 | ||||
nonsense | 0 | |||||
start loss | 0 | |||||
frameshift | 0 | |||||
inframe indel | 0 | |||||
splice donor/acceptor (+/-2bp) | 0 | |||||
splice region | 0 | |||||
non coding | 0 | |||||
Total | 0 | 0 | 29 | 6 | 4 |
Variants in KRTAP10-1
This is a list of pathogenic ClinVar variants found in the KRTAP10-1 region.
You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.
Position | Type | Phenotype | Significance | ClinVar |
---|---|---|---|---|
21-44539309-G-T | not specified | Uncertain significance (Feb 07, 2023) | ||
21-44539314-G-A | Likely benign (May 01, 2022) | |||
21-44539322-A-T | not specified | Uncertain significance (Jan 03, 2024) | ||
21-44539325-C-T | not specified | Likely benign (Apr 19, 2023) | ||
21-44539330-C-T | not specified | Uncertain significance (Nov 29, 2023) | ||
21-44539331-G-A | not specified | Uncertain significance (Jun 13, 2024) | ||
21-44539333-C-G | not specified | Uncertain significance (Mar 30, 2022) | ||
21-44539373-C-A | Autosomal recessive nonsyndromic hearing loss 98 | Uncertain significance (May 08, 2018) | ||
21-44539373-C-G | Benign (Oct 01, 2023) | |||
21-44539382-A-T | not specified | Uncertain significance (Mar 07, 2023) | ||
21-44539388-C-T | not specified | Likely benign (May 11, 2022) | ||
21-44539393-G-T | not specified | Uncertain significance (Aug 17, 2021) | ||
21-44539397-A-G | Benign (Feb 01, 2024) | |||
21-44539408-A-T | not specified | Uncertain significance (Jun 29, 2023) | ||
21-44539414-A-T | not specified | Uncertain significance (Jun 17, 2024) | ||
21-44539417-C-T | not specified | Uncertain significance (Dec 14, 2023) | ||
21-44539447-A-G | not specified | Uncertain significance (Dec 28, 2023) | ||
21-44539466-A-G | not specified | Uncertain significance (Dec 27, 2023) | ||
21-44539508-T-C | not specified | Uncertain significance (Jan 03, 2024) | ||
21-44539538-C-T | not specified | Uncertain significance (Oct 19, 2021) | ||
21-44539547-C-T | not specified | Uncertain significance (Mar 18, 2024) | ||
21-44539577-C-T | not specified | Uncertain significance (Jun 07, 2023) | ||
21-44539600-C-T | not specified | Likely benign (Aug 09, 2021) | ||
21-44539607-C-A | not specified | Uncertain significance (Aug 09, 2021) | ||
21-44539630-C-T | not specified | Uncertain significance (Aug 12, 2021) |
GnomAD
Source:
Gene | Type | Bio Type | Transcript | Coding Exons | Length |
---|---|---|---|---|---|
KRTAP10-1 | protein_coding | protein_coding | ENST00000400375 | 1 | 1215 |
pLI Probability LOF Intolerant | pRec Probability LOF Recessive | Individuals with no LOFs | Individuals with Homozygous LOFs | Individuals with Heterozygous LOFs | Defined | p |
---|---|---|---|---|---|---|
0.000168 | 0.465 | 0 | 0 | 0 | 0 | 0.00 |
Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible in Transcript | |
---|---|---|---|---|---|---|
Missense | -1.39 | 212 | 162 | 1.31 | 0.0000102 | 1789 |
Missense in Polyphen | 0 | 0.24584 | 0 | 2 | ||
Synonymous | -4.43 | 119 | 71.4 | 1.67 | 0.00000507 | 564 |
Loss of Function | 0.287 | 6 | 6.81 | 0.881 | 3.08e-7 | 81 |
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) | 0.00 | 0.00 |
Middle Eastern | 0.00 | 0.00 |
South Asian | 0.00 | 0.00 |
Other | 0.00 | 0.00 |
dbNSFP
Source:
- Function
- FUNCTION: In the hair cortex, hair keratin intermediate filaments are embedded in an interfilamentous matrix, consisting of hair keratin-associated proteins (KRTAP), which are essential for the formation of a rigid and resistant hair shaft through their extensive disulfide bond cross-linking with abundant cysteine residues of hair keratins. The matrix proteins include the high- sulfur and high-glycine-tyrosine keratins.;
Intolerance Scores
- loftool
- 0.664
- rvis_EVS
- 2.78
- rvis_percentile_EVS
- 99.02
Haploinsufficiency Scores
- pHI
- 0.101
- hipred
- N
- hipred_score
- 0.112
- ghis
- 0.396
Essentials
- essential_gene_CRISPR
- N
- essential_gene_CRISPR2
- N
- essential_gene_gene_trap
- N
- gene_indispensability_pred
- N
- gene_indispensability_score
- 0.114
Gene Damage Prediction
All | Recessive | Dominant | |
---|---|---|---|
Mendelian | Medium | Medium | Medium |
Primary Immunodeficiency | Medium | Medium | Medium |
Cancer | Medium | Medium | Medium |
Gene ontology
- Biological process
- keratinization
- Cellular component
- cytosol;keratin filament
- Molecular function