KRT77

keratin 77, the group of Keratins, type II

Basic information

Region (hg38): 12:52689625-52703524

Previous symbols: [ "KRT1B" ]

Links

ENSG00000189182 ∙ NCBI:374454 ∙ OMIM:611158 ∙ HGNC:20411 ∙ Uniprot:Q7Z794 ∙ 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 KRT77 gene.

• Inborn genetic diseases (24 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the KRT77 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			24			24
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	24	0	0

Variants in KRT77

This is a list of pathogenic ClinVar variants found in the KRT77 region.

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

Position	Type	Phenotype	Significance	ClinVar
12-52691197-T-C		not specified	Uncertain significance (Feb 06, 2024)
12-52691248-T-C		not specified	Uncertain significance (Mar 01, 2023)
12-52691272-C-A		not specified	Uncertain significance (Dec 26, 2023)
12-52691353-C-A		not specified	Uncertain significance (Aug 02, 2021)
12-52691383-C-T		not specified	Uncertain significance (Jul 27, 2022)
12-52691392-C-T		not specified	Uncertain significance (Jun 22, 2023)
12-52691397-C-T		not specified	Uncertain significance (Jan 22, 2024)
12-52691403-G-A		not specified	Uncertain significance (Feb 13, 2023)
12-52691428-T-C		not specified	Uncertain significance (Nov 17, 2022)
12-52691437-C-A		not specified	Uncertain significance (Apr 05, 2023)
12-52691437-C-T		not specified	Uncertain significance (Jan 26, 2023)
12-52692499-T-C		not specified	Uncertain significance (Jun 21, 2023)
12-52692518-G-A		not specified	Uncertain significance (Nov 08, 2022)
12-52692529-T-G		not specified	Uncertain significance (Jun 21, 2021)
12-52692538-T-A		not specified	Uncertain significance (Oct 13, 2023)
12-52692610-G-A		not specified	Uncertain significance (Mar 17, 2023)
12-52692616-G-A		not specified	Uncertain significance (Jul 12, 2023)
12-52692776-C-A		not specified	Uncertain significance (Dec 08, 2021)
12-52692802-G-A		not specified	Uncertain significance (Aug 05, 2023)
12-52694682-A-G		not specified	Uncertain significance (May 31, 2023)
12-52694759-T-C		not specified	Uncertain significance (Jun 29, 2023)
12-52694772-T-A		not specified	Uncertain significance (Dec 15, 2022)
12-52695781-T-G		not specified	Uncertain significance (Jun 10, 2022)
12-52695816-T-C		not specified	Uncertain significance (Mar 20, 2023)
12-52697701-C-G		not specified	Uncertain significance (Nov 09, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
KRT77	protein_coding	protein_coding	ENST00000341809	9	13838

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
1.42e-12	0.0979	125389	8	351	125748	0.00143

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-0.463	360	336	1.07	0.0000180	3755
Missense in Polyphen		105	105.99	0.99067		1345
Synonymous	-0.180	145	142	1.02	0.00000823	1158
Loss of Function	0.582	20	23.0	0.869	0.00000113	256

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.0149	0.0146
Ashkenazi Jewish	0.00120	0.00109
East Asian	0.00190	0.00190
Finnish	0.00	0.00
European (Non-Finnish)	0.000330	0.000316
Middle Eastern	0.00190	0.00190
South Asian	0.000959	0.000948
Other	0.000329	0.000326

dbNSFP

Source: dbNSFP

• Pathway: Keratinization;Developmental Biology (Consensus)

Intolerance Scores

• loftool: 0.181
• rvis_EVS: 2.29
• rvis_percentile_EVS: 98.31

Haploinsufficiency Scores

• pHI: 0.117
• hipred: N
• hipred_score: 0.146
• ghis: 0.408

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.411

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Krt77

Gene ontology

• Biological process: biological_process;keratinization;cornification
• Cellular component: cytosol;cytoskeleton;keratin filament;extracellular exosome
• Molecular function: molecular_function;structural molecule activity