KRT32

keratin 32, the group of Keratins, type I

Basic information

Region (hg38): 17:41459513-41467386

Previous symbols: [ "KRTHA2" ]

Links

ENSG00000108759NCBI:3882OMIM:602760HGNC:6449Uniprot:Q14532AlphaFoldGenCCjaxSfariGnomADPubmedClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the KRT32 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the KRT32 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
25
clinvar
1
clinvar
26
nonsense
0
start loss
0
frameshift
0
inframe indel
0
splice donor/acceptor (+/-2bp)
0
splice region
0
non coding
0
Total 0 0 25 1 0

Variants in KRT32

This is a list of pathogenic ClinVar variants found in the KRT32 region.

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

Position Type Phenotype Significance ClinVar
17-41460117-C-A not specified Uncertain significance (Jun 07, 2024)3289415
17-41460133-G-T not specified Uncertain significance (Dec 12, 2022)2382252
17-41460156-C-T not specified Uncertain significance (May 20, 2024)3289412
17-41460157-G-A not specified Uncertain significance (Oct 26, 2022)2371611
17-41460235-G-T not specified Uncertain significance (Apr 07, 2023)2534061
17-41462840-C-T not specified Uncertain significance (Dec 06, 2021)2264840
17-41462884-C-T not specified Uncertain significance (May 23, 2023)2518785
17-41462906-C-G not specified Uncertain significance (Feb 21, 2024)3116452
17-41462927-G-A not specified Uncertain significance (Mar 08, 2024)3116451
17-41462930-C-G not specified Uncertain significance (Sep 07, 2022)2382246
17-41462939-C-T not specified Uncertain significance (Mar 29, 2022)2280730
17-41462942-G-A not specified Uncertain significance (Apr 06, 2024)3289414
17-41462978-T-C not specified Uncertain significance (Aug 17, 2022)2408327
17-41463013-G-T not specified Uncertain significance (Oct 12, 2024)3535976
17-41463025-G-A not specified Uncertain significance (Dec 08, 2023)2379426
17-41463025-G-T not specified Uncertain significance (Jun 07, 2024)3289417
17-41463037-T-A not specified Uncertain significance (Dec 03, 2024)3535979
17-41464083-T-C not specified Uncertain significance (Apr 08, 2024)3289413
17-41464115-T-C not specified Uncertain significance (May 05, 2023)2544640
17-41464121-G-A not specified Uncertain significance (Aug 01, 2024)3535972
17-41464122-T-C not specified Uncertain significance (Nov 07, 2022)2323260
17-41464163-T-C not specified Uncertain significance (Jun 13, 2024)3289418
17-41464187-T-C not specified Uncertain significance (Nov 15, 2024)3535978
17-41464285-C-T not specified Uncertain significance (Aug 05, 2024)3535974
17-41464325-A-C not specified Uncertain significance (Mar 25, 2024)3289416

GnomAD

Source: gnomAD

GeneTypeBio TypeTranscript Coding Exons Length
KRT32protein_codingprotein_codingENST00000225899 77619
pLI Probability
LOF Intolerant
pRec Probability
LOF Recessive
Individuals with
no LOFs
Individuals with
Homozygous LOFs
Individuals with
Heterozygous LOFs
Defined p
1.36e-180.0003981256760721257480.000286
Z-Score Observed Expected Observed/Expected Mutation Rate Total Possible in Transcript
Missense-0.6102962681.100.00001652893
Missense in Polyphen9083.3311.08988
Synonymous-0.9931311171.120.00000744892
Loss of Function-1.232418.31.318.40e-7202

LoF frequencies by population

EthnicitySum of pLOFs p
African & African-American0.0007830.000766
Ashkenazi Jewish0.0001250.0000992
East Asian0.0002990.000272
Finnish0.0003540.000323
European (Non-Finnish)0.0002770.000264
Middle Eastern0.0002990.000272
South Asian0.0003940.000359
Other0.0001630.000163

dbNSFP

Source: dbNSFP

Pathway
Estrogen signaling pathway - Homo sapiens (human);Keratinization;Developmental Biology (Consensus)

Recessive Scores

pRec
0.180

Intolerance Scores

loftool
0.179
rvis_EVS
3.43
rvis_percentile_EVS
99.46

Haploinsufficiency Scores

pHI
0.147
hipred
N
hipred_score
0.170
ghis

Essentials

essential_gene_CRISPR
N
essential_gene_CRISPR2
N
essential_gene_gene_trap
N
gene_indispensability_pred
N
gene_indispensability_score
0.493

Gene Damage Prediction

AllRecessiveDominant
MendelianHighHighHigh
Primary ImmunodeficiencyHighHighHigh
CancerHighHighHigh

Mouse Genome Informatics

Gene name
Krt32
Phenotype

Gene ontology

Biological process
epidermis development;keratinization;cornification
Cellular component
cytosol;intermediate filament;extracellular exosome
Molecular function
structural molecule activity