KRT80

keratin 80, the group of Keratins, type II

Basic information

Region (hg38): 12:52168996-52192014

Links

ENSG00000167767 ∙ NCBI:144501 ∙ OMIM:611161 ∙ HGNC:27056 ∙ Uniprot:Q6KB66 ∙ 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 KRT80 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the KRT80 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			38		3	41
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	38	0	3

Variants in KRT80

This is a list of pathogenic ClinVar variants found in the KRT80 region.

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

Position	Type	Phenotype	Significance	ClinVar
12-52171426-A-C		not specified	Uncertain significance (Aug 12, 2022)
12-52171427-A-C		not specified	Uncertain significance (Sep 26, 2022)
12-52171460-C-T		not specified	Uncertain significance (Jan 09, 2024)
12-52171522-G-A		not specified	Uncertain significance (Mar 24, 2023)
12-52171682-C-T		not specified	Uncertain significance (Apr 13, 2022)
12-52171710-C-T		not specified	Uncertain significance (May 26, 2022)
12-52172294-C-T		not specified	Uncertain significance (Jul 10, 2023)
12-52172295-G-A		not specified	Uncertain significance (Sep 27, 2021)
12-52172340-C-A		not specified	Uncertain significance (Aug 04, 2021)
12-52173066-C-T		not specified	Uncertain significance (May 20, 2024)
12-52173082-G-A		not specified	Uncertain significance (Mar 06, 2023)
12-52173097-C-T		not specified	Uncertain significance (May 11, 2022)
12-52173101-C-G		not specified	Uncertain significance (Dec 17, 2023)
12-52173104-G-T		not specified	Uncertain significance (Jul 06, 2021)
12-52173109-G-A		not specified	Uncertain significance (May 29, 2024)
12-52173142-A-T		not specified	Uncertain significance (Jan 18, 2023)
12-52173145-G-T		not specified	Uncertain significance (May 24, 2024)
12-52173638-G-A		not specified	Uncertain significance (Mar 11, 2024)
12-52173643-G-A		not specified	Uncertain significance (Mar 25, 2024)
12-52173677-C-T		not specified	Uncertain significance (Oct 02, 2023)
12-52173703-C-T		not specified	Uncertain significance (May 09, 2024)
12-52173704-G-A			Benign (Jul 15, 2018)
12-52173715-C-T		not specified	Uncertain significance (Aug 12, 2022)
12-52173719-C-T			Benign (Aug 20, 2018)
12-52180572-C-G		not specified	Uncertain significance (Feb 12, 2024)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
KRT80	protein_coding	protein_coding	ENST00000394815	9	23005

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.00000346	0.946	125723	0	24	125747	0.0000954

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-0.334	290	274	1.06	0.0000175	2914
Missense in Polyphen		96	86.41	1.111		1010
Synonymous	-0.547	127	119	1.06	0.00000780	881
Loss of Function	1.82	12	21.0	0.572	9.58e-7	253

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.0000830	0.0000615
Ashkenazi Jewish	0.00	0.00
East Asian	0.000109	0.000109
Finnish	0.00	0.00
European (Non-Finnish)	0.000126	0.000123
Middle Eastern	0.000109	0.000109
South Asian	0.000196	0.000196
Other	0.000171	0.000163

dbNSFP

Source: dbNSFP

• Pathway: Keratinization;Developmental Biology (Consensus)

Recessive Scores

• pRec: 0.100

Intolerance Scores

• loftool: 0.0889
• rvis_EVS: 1.13
• rvis_percentile_EVS: 92.29

Haploinsufficiency Scores

• pHI: 0.240
• hipred: N
• hipred_score: 0.170
• ghis: 0.453

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.914

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Krt80

Gene ontology

• Biological process: keratinization;cornification
• Cellular component: cytosol;keratin filament;intermediate filament cytoskeleton
• Molecular function: structural molecule activity;protein binding