KRTAP6-1

keratin associated protein 6-1, the group of Keratin associated proteins

Basic information

Region (hg38): 21:30613431-30613930

Links

ENSG00000184724NCBI:337966HGNC:18931Uniprot:Q3LI64AlphaFoldGenCCjaxSfariGnomADPubmedClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the KRTAP6-1 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the KRTAP6-1 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
0
missense
9
clinvar
9
nonsense
0
start loss
0
frameshift
0
inframe indel
0
splice donor/acceptor (+/-2bp)
0
splice region
0
non coding
0
Total 0 0 9 0 0

Variants in KRTAP6-1

This is a list of pathogenic ClinVar variants found in the KRTAP6-1 region.

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

Position Type Phenotype Significance ClinVar
21-30613696-T-C not specified Uncertain significance (Dec 03, 2021)2263585
21-30613697-A-G not specified Uncertain significance (Sep 06, 2022)2203962
21-30613715-C-T not specified Uncertain significance (Sep 14, 2023)2624034
21-30613720-C-T not specified Uncertain significance (Aug 04, 2021)2376417
21-30613745-G-A not specified Uncertain significance (Nov 18, 2022)2327850
21-30613795-C-T not specified Uncertain significance (Sep 27, 2021)2214442
21-30613844-C-T not specified Uncertain significance (Sep 01, 2021)2368744
21-30613856-A-G not specified Uncertain significance (Jul 26, 2022)2303751
21-30613886-C-T not specified Uncertain significance (Dec 22, 2023)3117127

GnomAD

Source: gnomAD

GeneTypeBio TypeTranscript Coding Exons Length
KRTAP6-1protein_codingprotein_codingENST00000329122 1500
pLI Probability
LOF Intolerant
pRec Probability
LOF Recessive
Individuals with
no LOFs
Individuals with
Homozygous LOFs
Individuals with
Heterozygous LOFs
Defined p
0.002320.33400000.00
Z-Score Observed Expected Observed/Expected Mutation Rate Total Possible in Transcript
Missense-0.2074238.41.090.00000206426
Missense in Polyphen
Synonymous-0.2001917.91.069.82e-7154
Loss of Function-1.1531.492.026.37e-825

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.;

Intolerance Scores

loftool
0.785
rvis_EVS
0.86
rvis_percentile_EVS
88.56

Haploinsufficiency Scores

pHI
0.0435
hipred
N
hipred_score
0.146
ghis

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

AllRecessiveDominant
MendelianMediumMediumMedium
Primary ImmunodeficiencyMediumMediumMedium
CancerMediumMediumMedium

Gene ontology

Biological process
keratinization
Cellular component
cytosol;intermediate filament
Molecular function