KRT26

keratin 26, the group of Keratins, type I

Basic information

Region (hg38): 17:40766238-40772201

Previous symbols: [ "KRT25B" ]

Links

ENSG00000186393 ∙ NCBI:353288 ∙ OMIM:616675 ∙ HGNC:30840 ∙ Uniprot:Q7Z3Y9 ∙ 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 KRT26 gene.

• not_specified (77 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the KRT26 gene is commonly pathogenic or not. These statistics are base on transcript: NM_000181539.5. 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						0
missense			69	8		77
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	69	8	0

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
KRT26	protein_coding	protein_coding	ENST00000335552	8	5925

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
7.10e-15	0.0166	125129	2	616	125747	0.00246

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-0.664	276	247	1.12	0.0000133	3048
Missense in Polyphen		86	70.239	1.2244		974
Synonymous	0.433	93	98.5	0.945	0.00000587	910
Loss of Function	0.0801	22	22.4	0.982	0.00000117	273

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00957	0.00954
Ashkenazi Jewish	0.000694	0.000695
East Asian	0.0119	0.0119
Finnish	0.000279	0.000277
European (Non-Finnish)	0.000740	0.000739
Middle Eastern	0.0119	0.0119
South Asian	0.00408	0.00409
Other	0.000978	0.000978

dbNSFP

Source: dbNSFP

• Pathway: Estrogen signaling pathway - Homo sapiens (human);Keratinization;Developmental Biology (Consensus)

Intolerance Scores

• loftool: 0.291
• rvis_EVS: 1.46
• rvis_percentile_EVS: 95.23

Haploinsufficiency Scores

• pHI: 0.176
• hipred: N
• hipred_score: 0.207

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.376

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Krt26

Gene ontology

• Biological process: keratinization;cornification
• Cellular component: cytosol;intermediate filament;extracellular exosome
• Molecular function: structural molecule activity