KRTAP13-3

keratin associated protein 13-3, the group of Keratin associated proteins

Basic information

Region (hg38): 21:30425380-30425926

Links

ENSG00000240432NCBI:337960HGNC:18925Uniprot:Q3SY46AlphaFoldGenCCjaxSfariGnomADPubmedClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the KRTAP13-3 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the KRTAP13-3 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
10
clinvar
10
nonsense
0
start loss
0
frameshift
0
inframe indel
0
splice donor/acceptor (+/-2bp)
0
splice region
0
non coding
0
Total 0 0 10 0 0

Variants in KRTAP13-3

This is a list of pathogenic ClinVar variants found in the KRTAP13-3 region.

You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.

Position Type Phenotype Significance ClinVar
21-30425426-A-G not specified Uncertain significance (Feb 22, 2023)2487892
21-30425455-G-A not specified Uncertain significance (Aug 19, 2023)2619354
21-30425463-G-C not specified Uncertain significance (May 17, 2023)2568810
21-30425524-A-G not specified Uncertain significance (Dec 15, 2023)3116947
21-30425572-G-T not specified Uncertain significance (Dec 15, 2022)2335642
21-30425614-C-T not specified Uncertain significance (Apr 18, 2024)3289660
21-30425737-G-A not specified Uncertain significance (Apr 23, 2024)3289661
21-30425743-T-C not specified Uncertain significance (Apr 07, 2022)2282125
21-30425756-A-G not specified Uncertain significance (Jun 29, 2023)2607926
21-30425792-A-G not specified Uncertain significance (Jun 16, 2024)3289662
21-30425795-G-T not specified Uncertain significance (Jul 11, 2023)2610404
21-30425851-T-C not specified Uncertain significance (Oct 12, 2021)2254762
21-30425870-G-A not specified Uncertain significance (May 09, 2023)2545895

GnomAD

Source: gnomAD

GeneTypeBio TypeTranscript Coding Exons Length
KRTAP13-3protein_codingprotein_codingENST00000390690 1704
pLI Probability
LOF Intolerant
pRec Probability
LOF Recessive
Individuals with
no LOFs
Individuals with
Homozygous LOFs
Individuals with
Heterozygous LOFs
Defined p
0.08540.57400000.00
Z-Score Observed Expected Observed/Expected Mutation Rate Total Possible in Transcript
Missense-0.73410989.51.220.000004031118
Missense in Polyphen2415.0121.5988206
Synonymous-1.744935.81.370.00000165332
Loss of Function-0.13010.8691.153.55e-814

LoF frequencies by population

EthnicitySum of pLOFs p
African & African-American0.000.00
Ashkenazi Jewish0.000.00
East Asian0.000.00
Finnish0.000.00
European (Non-Finnish)0.000.00
Middle Eastern0.000.00
South Asian0.000.00
Other0.000.00

dbNSFP

Source: dbNSFP

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 (By similarity). {ECO:0000250}.;

Intolerance Scores

loftool
0.514
rvis_EVS
-0.32
rvis_percentile_EVS
31.46

Haploinsufficiency Scores

pHI
0.0291
hipred
N
hipred_score
0.112
ghis
0.468

Essentials

essential_gene_CRISPR
N
essential_gene_CRISPR2
N
essential_gene_gene_trap
N
gene_indispensability_pred
N
gene_indispensability_score
0.102

Gene Damage Prediction

AllRecessiveDominant
MendelianMediumMediumMedium
Primary ImmunodeficiencyMediumMediumMedium
CancerMediumMediumMedium

Gene ontology

Biological process
keratinization
Cellular component
cytosol;intermediate filament
Molecular function
protein binding