KRTAP5-8

keratin associated protein 5-8, the group of Keratin associated proteins

Basic information

Region (hg38): 11:71538025-71539209

Links

ENSG00000241233NCBI:57830HGNC:23603Uniprot:O75690AlphaFoldGenCCjaxSfariGnomADPubmedClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the KRTAP5-8 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the KRTAP5-8 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
7
clinvar
7
nonsense
0
start loss
0
frameshift
0
inframe indel
0
splice donor/acceptor (+/-2bp)
0
splice region
0
non coding
0
Total 0 0 7 0 0

Variants in KRTAP5-8

This is a list of pathogenic ClinVar variants found in the KRTAP5-8 region.

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

Position Type Phenotype Significance ClinVar
11-71538092-G-A not specified Likely benign (May 13, 2024)3289758
11-71538107-G-A not specified Uncertain significance (May 25, 2022)3117122
11-71538138-G-A not specified Uncertain significance (Jun 03, 2022)2371072
11-71538141-G-A not specified Uncertain significance (Feb 06, 2024)3117124
11-71538186-C-T not specified Uncertain significance (Jun 11, 2024)3289763
11-71538218-G-A not specified Uncertain significance (Mar 30, 2024)3289760
11-71538234-G-A not specified Uncertain significance (May 15, 2024)3289756
11-71538257-G-A not specified Uncertain significance (Dec 27, 2023)3117120
11-71538297-G-T not specified Uncertain significance (Mar 18, 2024)3289759
11-71538494-A-G not specified Uncertain significance (Dec 20, 2023)3117121
11-71538507-C-T not specified Uncertain significance (Apr 30, 2024)3289761
11-71538533-T-G not specified Uncertain significance (May 02, 2024)3289762
11-71538586-C-G not specified Uncertain significance (Aug 02, 2021)2204967
11-71538611-A-G not specified Uncertain significance (Oct 05, 2023)3117123
11-71538615-T-C not specified Uncertain significance (Apr 15, 2024)3289757

GnomAD

Source: gnomAD

GeneTypeBio TypeTranscript Coding Exons Length
KRTAP5-8protein_codingprotein_codingENST00000398534 11183
pLI Probability
LOF Intolerant
pRec Probability
LOF Recessive
Individuals with
no LOFs
Individuals with
Homozygous LOFs
Individuals with
Heterozygous LOFs
Defined p
0.09510.59100000.00
Z-Score Observed Expected Observed/Expected Mutation Rate Total Possible in Transcript
Missense-0.32310192.31.090.000004521191
Missense in Polyphen
Synonymous0.2543638.00.9480.00000199342
Loss of Function0.067811.080.9294.69e-822

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 protein (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
0.715
rvis_EVS
1.44
rvis_percentile_EVS
95.05

Haploinsufficiency Scores

pHI
0.0755
hipred
N
hipred_score
0.146
ghis

Essentials

essential_gene_CRISPR
N
essential_gene_CRISPR2
essential_gene_gene_trap
N
gene_indispensability_pred
N
gene_indispensability_score
0.114

Gene Damage Prediction

AllRecessiveDominant
MendelianHighHighHigh
Primary ImmunodeficiencyHighHighHigh
CancerHighHighHigh

Mouse Genome Informatics

Gene name
Krtap5-2
Phenotype

Gene ontology

Biological process
biological_process;keratinization
Cellular component
cytosol;keratin filament
Molecular function
structural constituent of epidermis