KRT77

keratin 77, the group of Keratins, type II

Basic information

Region (hg38): 12:52689626-52703524

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.

• not_specified (85 variants)
• not_provided (1 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. These statistics are base on transcript: NM_000175078.3. Only rare variants are included in the table.

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.

Effect	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous				2		2
missense			79	5		84
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	79	7	0

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