KRTAP17-1

keratin associated protein 17-1, the group of Keratin associated proteins

Basic information

Region (hg38): 17:41314912-41315710

Links

ENSG00000186860NCBI:83902HGNC:18917Uniprot:Q9BYP8AlphaFoldGenCCjaxSfariGnomADPubmedClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the KRTAP17-1 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the KRTAP17-1 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
11
clinvar
11
nonsense
0
start loss
0
frameshift
0
inframe indel
0
splice donor/acceptor (+/-2bp)
0
splice region
0
non coding
0
Total 0 0 11 0 0

Variants in KRTAP17-1

This is a list of pathogenic ClinVar variants found in the KRTAP17-1 region.

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

Position Type Phenotype Significance ClinVar
17-41315348-T-C not specified Uncertain significance (Dec 08, 2023)3116972
17-41315364-C-A not specified Uncertain significance (Mar 11, 2024)3116970
17-41315364-C-T not specified Uncertain significance (Jun 23, 2023)2606243
17-41315370-A-C not specified Uncertain significance (Jun 22, 2023)2605167
17-41315430-C-G not specified Uncertain significance (Apr 18, 2023)2537621
17-41315452-C-T not specified Uncertain significance (Oct 27, 2022)2321496
17-41315502-C-T not specified Uncertain significance (Mar 20, 2023)2527148
17-41315520-C-A not specified Uncertain significance (Jun 29, 2022)2400334
17-41315564-A-C not specified Uncertain significance (Oct 24, 2023)3116973
17-41315622-G-A not specified Uncertain significance (Apr 08, 2024)3289672
17-41315622-G-C not specified Uncertain significance (Nov 03, 2023)3116971
17-41315637-G-A not specified Uncertain significance (May 05, 2022)2287619

GnomAD

Source: gnomAD

GeneTypeBio TypeTranscript Coding Exons Length
KRTAP17-1protein_codingprotein_codingENST00000334202 1775
pLI Probability
LOF Intolerant
pRec Probability
LOF Recessive
Individuals with
no LOFs
Individuals with
Homozygous LOFs
Individuals with
Heterozygous LOFs
Defined p
0.5910.37200000.00
Z-Score Observed Expected Observed/Expected Mutation Rate Total Possible in Transcript
Missense0.3965766.10.8630.00000384668
Missense in Polyphen
Synonymous0.2022829.40.9530.00000223200
Loss of Function1.5502.790.001.18e-733

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
0.421
rvis_EVS
0.21
rvis_percentile_EVS
67.72

Haploinsufficiency Scores

pHI
0.114
hipred
N
hipred_score
0.146
ghis
0.394

Essentials

essential_gene_CRISPR
N
essential_gene_CRISPR2
N
essential_gene_gene_trap
N
gene_indispensability_pred
N
gene_indispensability_score
0.00438

Gene Damage Prediction

AllRecessiveDominant
MendelianMediumMediumMedium
Primary ImmunodeficiencyMediumMediumHigh
CancerMediumMediumMedium

Mouse Genome Informatics

Gene name
Krtap17-1
Phenotype
integument phenotype (the observable morphological and physiological characteristics of the skin and its associated structures, such as the hair, nails, sweat glands, sebaceous glands and other secretory glands that are manifested through development and lifespan); behavior/neurological phenotype (the observable actions or reactions of mammalian organisms that are manifested through development and lifespan);

Gene ontology

Biological process
keratinization
Cellular component
cytosol;intermediate filament
Molecular function