KRT79

keratin 79, the group of Keratins, type II

Basic information

Region (hg38): 12:52821407-52834311

Links

ENSG00000185640 ∙ NCBI:338785 ∙ OMIM:611160 ∙ HGNC:28930 ∙ Uniprot:Q5XKE5 ∙ 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 KRT79 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the KRT79 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			15	1		16
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	15	1	0

Variants in KRT79

This is a list of pathogenic ClinVar variants found in the KRT79 region.

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

Position	Type	Phenotype	Significance	ClinVar
12-52821891-G-A		not specified	Uncertain significance (Jan 08, 2024)
12-52823211-G-A		not specified	Uncertain significance (Feb 05, 2024)
12-52823967-G-A		not specified	Uncertain significance (Jun 11, 2021)
12-52824299-G-A		not specified	Uncertain significance (Aug 04, 2021)
12-52830024-A-C		not specified	Uncertain significance (Dec 01, 2022)
12-52830031-A-G		not specified	Uncertain significance (Dec 27, 2022)
12-52830093-C-T		not specified	Uncertain significance (Jul 14, 2023)
12-52831437-C-T		not specified	Uncertain significance (Nov 01, 2022)
12-52831466-C-A		not specified	Uncertain significance (Apr 20, 2024)
12-52831498-C-T		not specified	Uncertain significance (Jul 13, 2022)
12-52831623-G-A		not specified	Uncertain significance (Jan 06, 2023)
12-52833810-T-C		not specified	Uncertain significance (Apr 18, 2024)
12-52833859-C-A		not specified	Uncertain significance (Mar 15, 2024)
12-52833923-C-G		not specified	Uncertain significance (Sep 17, 2021)
12-52833947-A-C		not specified	Uncertain significance (Apr 23, 2024)
12-52833950-G-A		not specified	Uncertain significance (Dec 18, 2023)
12-52834007-A-G		not specified	Uncertain significance (Nov 22, 2023)
12-52834013-C-T		not specified	Uncertain significance (Dec 07, 2021)
12-52834032-C-T		not specified	Uncertain significance (Jun 16, 2024)
12-52834104-C-T		not specified	Likely benign (Nov 21, 2022)
12-52834148-A-G		not specified	Uncertain significance (Apr 22, 2024)
12-52834164-A-C		not specified	Uncertain significance (Nov 27, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
KRT79	protein_coding	protein_coding	ENST00000330553	9	12886

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
9.87e-17	0.00497	125597	1	150	125748	0.000601

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-0.110	330	324	1.02	0.0000197	3479
Missense in Polyphen		82	88.395	0.92765		1059
Synonymous	-1.01	154	139	1.11	0.00000866	1111
Loss of Function	-0.190	24	23.0	1.04	0.00000115	248

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000803	0.000803
Ashkenazi Jewish	0.00308	0.00308
East Asian	0.00114	0.00109
Finnish	0.0000462	0.0000462
European (Non-Finnish)	0.000406	0.000404
Middle Eastern	0.00114	0.00109
South Asian	0.00101	0.00101
Other	0.000491	0.000489

dbNSFP

Source: dbNSFP

• Pathway: Keratinization;Developmental Biology (Consensus)

Recessive Scores

• pRec: 0.0992

Intolerance Scores

• loftool: 0.313
• rvis_EVS: 1.34
• rvis_percentile_EVS: 94.29

Haploinsufficiency Scores

• pHI: 0.0940
• hipred: N
• hipred_score: 0.170

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: S
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.555

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Krt79

Gene ontology

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