KRTAP4-12

keratin associated protein 4-12, the group of Keratin associated proteins

Basic information

Region (hg38): 17:41123091-41124182

Links

ENSG00000213416NCBI:83755HGNC:16776Uniprot:Q9BQ66AlphaFoldGenCCjaxSfariGnomADPubmedClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the KRTAP4-12 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the KRTAP4-12 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
2
clinvar
2
missense
22
clinvar
1
clinvar
23
nonsense
0
start loss
0
frameshift
0
inframe indel
0
splice donor/acceptor (+/-2bp)
0
splice region
0
non coding
0
Total 0 0 22 3 0

Variants in KRTAP4-12

This is a list of pathogenic ClinVar variants found in the KRTAP4-12 region.

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

Position Type Phenotype Significance ClinVar
17-41123557-G-C not specified Uncertain significance (Jul 22, 2022)2391082
17-41123602-A-G not specified Uncertain significance (Sep 16, 2021)2364886
17-41123620-C-T not specified Uncertain significance (Dec 16, 2022)2211532
17-41123652-T-G not specified Uncertain significance (May 15, 2024)3289710
17-41123665-G-C not specified Uncertain significance (Mar 29, 2023)2531480
17-41123680-G-C not specified Uncertain significance (Jun 18, 2024)3289709
17-41123682-G-C not specified Uncertain significance (Mar 28, 2023)2530612
17-41123734-C-T not specified Uncertain significance (Feb 05, 2024)3117048
17-41123737-T-G not specified Uncertain significance (Feb 27, 2023)2489645
17-41123740-G-C not specified Uncertain significance (Jan 30, 2024)3117047
17-41123741-G-A not specified Uncertain significance (Mar 12, 2024)3117046
17-41123773-C-T not specified Uncertain significance (May 31, 2023)2510521
17-41123792-A-G not specified Uncertain significance (Sep 25, 2023)3117045
17-41123816-G-A not specified Uncertain significance (Jul 13, 2022)2361044
17-41123817-G-A Likely benign (Apr 01, 2023)2647755
17-41123893-C-A not specified Uncertain significance (Jan 29, 2024)3117044
17-41123901-G-A Likely benign (Sep 01, 2023)2647756
17-41123905-G-A not specified Uncertain significance (Sep 23, 2023)3117043
17-41123938-C-A not specified Uncertain significance (Sep 07, 2022)3117042
17-41123939-G-A not specified Uncertain significance (Aug 12, 2022)2307032
17-41123980-G-A not specified Uncertain significance (Jul 08, 2022)2300162
17-41124001-C-G not specified Uncertain significance (Dec 15, 2022)2335527
17-41124032-A-G not specified Uncertain significance (May 26, 2022)2386581
17-41124058-C-T not specified Uncertain significance (Aug 08, 2022)3117050
17-41124059-G-A not specified Uncertain significance (Jun 17, 2024)3289708

GnomAD

Source: gnomAD

GeneTypeBio TypeTranscript Coding Exons Length
KRTAP4-12protein_codingprotein_codingENST00000394014 11077
pLI Probability
LOF Intolerant
pRec Probability
LOF Recessive
Individuals with
no LOFs
Individuals with
Homozygous LOFs
Individuals with
Heterozygous LOFs
Defined p
0.1930.76400000.00
Z-Score Observed Expected Observed/Expected Mutation Rate Total Possible in Transcript
Missense-1.051501181.270.000007221311
Missense in Polyphen
Synonymous-2.235940.91.440.00000183371
Loss of Function1.6826.690.2993.83e-785

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.;

Recessive Scores

pRec
0.118

Intolerance Scores

loftool
0.471
rvis_EVS
0.73
rvis_percentile_EVS
86.08

Haploinsufficiency Scores

pHI
0.0233
hipred
N
hipred_score
0.203
ghis

Essentials

essential_gene_CRISPR
N
essential_gene_CRISPR2
N
essential_gene_gene_trap
N
gene_indispensability_pred
E
gene_indispensability_score
0.539

Gene Damage Prediction

AllRecessiveDominant
MendelianMediumMediumMedium
Primary ImmunodeficiencyMediumMediumMedium
CancerMediumMediumMedium

Gene ontology

Biological process
Cellular component
keratin filament
Molecular function
protein binding