KRT7

keratin 7, the group of Keratins, type II

Basic information

Region (hg38): 12:52232519-52252186

Links

ENSG00000135480 ∙ NCBI:3855 ∙ OMIM:148059 ∙ HGNC:6445 ∙ Uniprot:P08729 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the KRT7 gene.

• Inborn genetic diseases (21 variants)
• not provided (10 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the KRT7 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				1	3	4
missense			21	2	4	27
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	21	3	7

Variants in KRT7

This is a list of pathogenic ClinVar variants found in the KRT7 region.

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

Position	Type	Phenotype	Significance	ClinVar
12-52233340-C-A		not specified	Uncertain significance (Feb 05, 2024)
12-52233347-C-A			Benign (Jun 22, 2018)
12-52233406-G-A			Likely benign (Dec 13, 2017)
12-52233427-C-G		not specified	Uncertain significance (Dec 01, 2022)
12-52233469-C-T		not specified	Uncertain significance (Mar 01, 2024)
12-52233543-T-C		not specified	Uncertain significance (Dec 21, 2022)
12-52233560-C-T			Likely benign (May 29, 2018)
12-52233569-G-C		not specified	Uncertain significance (Apr 26, 2023)
12-52235156-T-G		not specified	Uncertain significance (Mar 25, 2022)
12-52235174-A-C		not specified	Uncertain significance (Dec 15, 2023)
12-52235239-C-G		not specified	Uncertain significance (Apr 13, 2023)
12-52235296-C-A		not specified	Uncertain significance (Oct 05, 2023)
12-52235339-A-C		not specified	Uncertain significance (Feb 27, 2024)
12-52241479-C-G		not specified	Uncertain significance (May 26, 2023)
12-52241506-C-T		not specified	Uncertain significance (Sep 20, 2023)
12-52241514-G-A		not specified	Uncertain significance (Sep 29, 2022)
12-52241520-T-C		not specified	Uncertain significance (Dec 01, 2022)
12-52241562-G-A			Benign (Dec 31, 2019)
12-52241620-C-T		not specified	Uncertain significance (Dec 15, 2022)
12-52243017-G-C		not specified	Uncertain significance (Feb 28, 2024)
12-52243019-C-T		not specified	Uncertain significance (Nov 29, 2023)
12-52243059-G-A			Benign (Nov 20, 2018)
12-52243061-A-G		not specified	Uncertain significance (May 18, 2022)
12-52243070-A-C		not specified	Uncertain significance (Sep 14, 2023)
12-52243074-G-C		not specified	Uncertain significance (Sep 09, 2021)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
KRT7	protein_coding	protein_coding	ENST00000331817	9	19667

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
3.09e-12	0.0427	125691	0	56	125747	0.000223

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.0399	293	295	0.993	0.0000183	3026
Missense in Polyphen		95	94.452	1.0058		1140
Synonymous	1.24	105	122	0.857	0.00000717	958
Loss of Function	0.105	18	18.5	0.974	7.87e-7	222

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000931	0.000931
Ashkenazi Jewish	0.000199	0.000198
East Asian	0.000274	0.000272
Finnish	0.00	0.00
European (Non-Finnish)	0.0000539	0.0000527
Middle Eastern	0.000274	0.000272
South Asian	0.000360	0.000359
Other	0.000164	0.000163

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Blocks interferon-dependent interphase and stimulates DNA synthesis in cells. Involved in the translational regulation of the human papillomavirus type 16 E7 mRNA (HPV16 E7). {ECO:0000269|PubMed:10492017, ECO:0000269|PubMed:12072504}.
• Pathway: Keratinization;Developmental Biology;EGFR1 (Consensus)

Recessive Scores

• pRec: 0.353

Intolerance Scores

• loftool: 0.286
• rvis_EVS: 1.07
• rvis_percentile_EVS: 91.67

Haploinsufficiency Scores

• pHI: 0.329
• hipred: N
• hipred_score: 0.208
• ghis: 0.555

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.606

Gene Damage Prediction

	All	Recessive	Dominant
Mendelian	Medium	Medium	Medium
Primary Immunodeficiency	Medium	Medium	Medium
Cancer	Medium	Medium	Medium

Mouse Genome Informatics

• Gene name: Krt7
• Phenotype: cellular phenotype; homeostasis/metabolism phenotype; renal/urinary system phenotype

Gene ontology

• Biological process: viral process;keratinization;cornification
• Cellular component: nucleus;cytoplasm;cytosol;intermediate filament;keratin filament;extracellular exosome
• Molecular function: structural molecule activity;protein binding