KRT76

keratin 76, the group of Keratins, type II

Basic information

Region (hg38): 12:52768155-52777345

Links

ENSG00000185069 ∙ NCBI:51350 ∙ OMIM:616671 ∙ HGNC:24430 ∙ Uniprot:Q01546 ∙ 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 KRT76 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the KRT76 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	2		39
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	2	0

Variants in KRT76

This is a list of pathogenic ClinVar variants found in the KRT76 region.

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

Position	Type	Phenotype	Significance	ClinVar
12-52768768-G-T		not specified	Uncertain significance (Apr 08, 2024)
12-52768810-G-A		not specified	Uncertain significance (May 09, 2023)
12-52768825-G-C		not specified	Uncertain significance (May 04, 2023)
12-52768841-C-T		not specified	Uncertain significance (Feb 16, 2023)
12-52768859-T-C		not specified	Uncertain significance (Jul 09, 2021)
12-52768878-C-A		not specified	Uncertain significance (Dec 27, 2023)
12-52768896-G-T		not specified	Uncertain significance (Apr 06, 2024)
12-52768897-C-T		not specified	Uncertain significance (Apr 08, 2024)
12-52768912-C-T		not specified	Uncertain significance (May 24, 2024)
12-52768916-T-C		not specified	Uncertain significance (May 24, 2024)
12-52768919-C-G		not specified	Uncertain significance (May 24, 2023)
12-52768928-C-T		not specified	Uncertain significance (Apr 20, 2024)
12-52769012-C-T		not specified	Likely benign (Aug 17, 2022)
12-52769558-C-T		not specified	Uncertain significance (Feb 07, 2023)
12-52769570-A-G		not specified	Uncertain significance (Jan 23, 2023)
12-52769570-A-T		not specified	Uncertain significance (Nov 17, 2022)
12-52771095-C-T		not specified	Uncertain significance (Jun 29, 2023)
12-52771101-A-G		not specified	Uncertain significance (Mar 30, 2024)
12-52771108-C-T		not specified	Uncertain significance (Jul 22, 2022)
12-52771133-C-A		not specified	Uncertain significance (May 01, 2022)
12-52771152-T-C		not specified	Uncertain significance (Aug 12, 2021)
12-52771156-C-T		not specified	Uncertain significance (Mar 29, 2022)
12-52771201-C-T		not specified	Uncertain significance (Jun 13, 2024)
12-52771203-G-A		not specified	Uncertain significance (Oct 05, 2022)
12-52771893-T-G		not specified	Uncertain significance (Mar 31, 2024)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
KRT76	protein_coding	protein_coding	ENST00000332411	9	9191

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
2.74e-14	0.0191	123871	9	1868	125748	0.00749

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-0.753	402	362	1.11	0.0000200	4201
Missense in Polyphen		115	104.44	1.1011		1512
Synonymous	-1.56	162	139	1.17	0.00000747	1268
Loss of Function	0.0485	21	21.2	0.989	9.09e-7	266

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00430	0.00431
Ashkenazi Jewish	0.0313	0.0313
East Asian	0.00147	0.00147
Finnish	0.00763	0.00760
European (Non-Finnish)	0.00931	0.00933
Middle Eastern	0.00147	0.00147
South Asian	0.00490	0.00485
Other	0.00913	0.00916

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Probably contributes to terminal cornification. {ECO:0000269|PubMed:1282112}.
• Pathway: Keratinization;Developmental Biology (Consensus)

Intolerance Scores

• loftool: 0.171
• rvis_EVS: 1.25
• rvis_percentile_EVS: 93.47

Haploinsufficiency Scores

• pHI: 0.159
• hipred: N
• hipred_score: 0.131

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.131

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Krt76
• Phenotype: limbs/digits/tail phenotype; endocrine/exocrine gland phenotype; pigmentation 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)

Gene ontology

• Biological process: cytoskeleton organization;keratinization;pigmentation;sebaceous gland development;cornification
• Cellular component: nucleus;cytosol;intermediate filament;keratin filament;extracellular exosome
• Molecular function: structural molecule activity