KRTAP21-1

keratin associated protein 21-1, the group of Keratin associated proteins

Basic information

Region (hg38): 21:30755015-30755428

Links

ENSG00000187005NCBI:337977HGNC:18945Uniprot:Q3LI58AlphaFoldGenCCjaxSfariGnomADPubmedClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the KRTAP21-1 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the KRTAP21-1 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
7
clinvar
2
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 7 2 0

Variants in KRTAP21-1

This is a list of pathogenic ClinVar variants found in the KRTAP21-1 region.

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

Position Type Phenotype Significance ClinVar
21-30755176-C-T not specified Likely benign (Oct 26, 2022)2319926
21-30755197-C-T not specified Uncertain significance (Jul 09, 2021)2398897
21-30755204-C-A not specified Uncertain significance (Dec 14, 2022)2334678
21-30755266-T-C not specified Uncertain significance (Aug 05, 2023)2591749
21-30755282-C-T not specified Uncertain significance (Mar 02, 2023)2468753
21-30755305-C-T not specified Uncertain significance (Dec 12, 2023)3116992
21-30755308-G-C not specified Uncertain significance (Nov 05, 2021)3116991
21-30755326-C-T not specified Likely benign (Feb 13, 2023)2460622
21-30755333-A-T not specified Uncertain significance (Dec 06, 2023)3116990

GnomAD

Source: gnomAD

GeneTypeBio TypeTranscript Coding Exons Length
KRTAP21-1protein_codingprotein_codingENST00000335093 1308
pLI Probability
LOF Intolerant
pRec Probability
LOF Recessive
Individuals with
no LOFs
Individuals with
Homozygous LOFs
Individuals with
Heterozygous LOFs
Defined p
0.3530.49400000.00
Z-Score Observed Expected Observed/Expected Mutation Rate Total Possible in Transcript
Missense-0.1874743.51.080.00000224489
Missense in Polyphen
Synonymous0.3191718.80.9060.00000100163
Loss of Function0.74900.6540.002.72e-89

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
0.210
rvis_EVS
-0.1
rvis_percentile_EVS
46.2

Haploinsufficiency Scores

pHI
hipred
N
hipred_score
0.146
ghis
0.463

Essentials

essential_gene_CRISPR
N
essential_gene_CRISPR2
essential_gene_gene_trap
N
gene_indispensability_pred
N
gene_indispensability_score
0.0158

Gene Damage Prediction

AllRecessiveDominant
MendelianMediumMediumMedium
Primary ImmunodeficiencyMediumMediumMedium
CancerMediumMediumMedium

Gene ontology

Biological process
keratinization
Cellular component
cytosol;intermediate filament
Molecular function