KRT37

keratin 37, the group of Keratins, type I

Basic information

Region (hg38): 17:41420547-41424585

Previous symbols: [ "KRTHA7" ]

Links

ENSG00000108417NCBI:8688OMIM:604541HGNC:6455Uniprot:O76014AlphaFoldGenCCjaxSfariGnomADPubmedClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the KRT37 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the KRT37 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
37
clinvar
1
clinvar
38
nonsense
0
start loss
0
frameshift
0
inframe indel
0
splice donor/acceptor (+/-2bp)
0
splice region
0
non coding
0
Total 0 0 37 1 0

Variants in KRT37

This is a list of pathogenic ClinVar variants found in the KRT37 region.

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

Position Type Phenotype Significance ClinVar
17-41420906-G-A not specified Uncertain significance (Dec 14, 2023)3116499
17-41420919-C-G not specified Uncertain significance (Apr 07, 2022)2229675
17-41420936-C-A not specified Uncertain significance (Dec 19, 2023)2404379
17-41421407-T-A not specified Uncertain significance (Aug 13, 2021)2244880
17-41421421-C-T not specified Uncertain significance (May 27, 2022)2292077
17-41421425-C-T not specified Uncertain significance (Dec 16, 2023)3116498
17-41421431-C-T not specified Uncertain significance (Nov 09, 2021)2366545
17-41421479-G-A not specified Uncertain significance (Jun 28, 2022)2394137
17-41421490-A-G not specified Uncertain significance (May 14, 2024)3289448
17-41421512-T-G not specified Uncertain significance (May 23, 2023)2521593
17-41421516-G-T not specified Uncertain significance (Mar 25, 2024)3289450
17-41421547-C-T not specified Uncertain significance (Dec 20, 2023)3116497
17-41421548-G-A not specified Uncertain significance (Sep 09, 2021)2248826
17-41421556-G-C not specified Uncertain significance (Oct 26, 2021)2257061
17-41421557-C-T not specified Uncertain significance (Oct 26, 2021)2248677
17-41422100-A-G not specified Uncertain significance (Apr 19, 2024)3289447
17-41422185-T-C not specified Uncertain significance (Nov 05, 2021)2258919
17-41422326-C-T not specified Uncertain significance (Jan 26, 2022)2272859
17-41422389-C-G not specified Uncertain significance (Jul 20, 2021)3116505
17-41422394-C-T not specified Uncertain significance (Aug 02, 2023)2615193
17-41422410-G-C not specified Uncertain significance (Dec 27, 2023)3116503
17-41422815-T-C not specified Uncertain significance (Aug 15, 2023)2602664
17-41422845-G-T not specified Uncertain significance (Sep 28, 2022)2314149
17-41422878-T-C not specified Uncertain significance (Apr 28, 2023)2541733
17-41422878-T-G not specified Uncertain significance (Jul 30, 2023)2614821

GnomAD

Source: gnomAD

GeneTypeBio TypeTranscript Coding Exons Length
KRT37protein_codingprotein_codingENST00000225550 73771
pLI Probability
LOF Intolerant
pRec Probability
LOF Recessive
Individuals with
no LOFs
Individuals with
Homozygous LOFs
Individuals with
Heterozygous LOFs
Defined p
3.52e-100.176922413605299021257480.144
Z-Score Observed Expected Observed/Expected Mutation Rate Total Possible in Transcript
Missense-0.3582912741.060.00001672931
Missense in Polyphen7175.5350.939971006
Synonymous-0.9891371231.110.00000820895
Loss of Function0.5461618.50.8637.90e-7215

LoF frequencies by population

EthnicitySum of pLOFs p
African & African-American0.1420.141
Ashkenazi Jewish0.1550.149
East Asian0.2980.277
Finnish0.07990.0770
European (Non-Finnish)0.1620.155
Middle Eastern0.2980.277
South Asian0.1990.189
Other0.1620.154

dbNSFP

Source: dbNSFP

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

Recessive Scores

pRec
0.111

Intolerance Scores

loftool
0.102
rvis_EVS
1.78
rvis_percentile_EVS
96.85

Haploinsufficiency Scores

pHI
0.115
hipred
N
hipred_score
0.146
ghis
0.400

Essentials

essential_gene_CRISPR
N
essential_gene_CRISPR2
N
essential_gene_gene_trap
N
gene_indispensability_pred
N
gene_indispensability_score
0.433

Gene Damage Prediction

AllRecessiveDominant
MendelianHighHighHigh
Primary ImmunodeficiencyHighHighHigh
CancerHighHighHigh

Gene ontology

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