KRT36

keratin 36, the group of Keratins, type I

Basic information

Region (hg38): 17:41486136-41492546

Previous symbols: [ "KRTHA6" ]

Links

ENSG00000126337 ∙ NCBI:8689 ∙ OMIM:604540 ∙ HGNC:6454 ∙ Uniprot:O76013 ∙ 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 KRT36 gene.

• not_specified (78 variants)
• not_provided (2 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the KRT36 gene is commonly pathogenic or not. These statistics are base on transcript: NM_000003771.5. 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			73	5	2	80
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	73	5	2

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
KRT36	protein_coding	protein_coding	ENST00000328119	7	6411

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
2.06e-13	0.0323	124644	12	1092	125748	0.00440

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.282	268	281	0.953	0.0000177	3004
Missense in Polyphen		98	106.66	0.91884		1172
Synonymous	-0.339	129	124	1.04	0.00000804	962
Loss of Function	0.165	20	20.8	0.961	9.83e-7	227

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00478	0.00477
Ashkenazi Jewish	0.00397	0.00398
East Asian	0.000761	0.000761
Finnish	0.00352	0.00352
European (Non-Finnish)	0.00370	0.00369
Middle Eastern	0.000761	0.000761
South Asian	0.0127	0.0124
Other	0.00653	0.00654

dbNSFP

Source: dbNSFP

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

Recessive Scores

• pRec: 0.142

Intolerance Scores

• loftool: 0.340
• rvis_EVS: 1.45
• rvis_percentile_EVS: 95.12

Haploinsufficiency Scores

• pHI: 0.160
• hipred: N
• hipred_score: 0.300

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.499

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Krt36
• Phenotype: craniofacial phenotype; growth/size/body region phenotype; integument phenotype (the observable morphological and physiological characteristics of the skin and its associated structures, such as the hair, nails, sweat glands, sebaceous glands and other secretory glands that are manifested through development and lifespan); digestive/alimentary phenotype; limbs/digits/tail phenotype

Gene ontology

• Biological process: biological_process;keratinization;regulation of keratinocyte differentiation;cornification
• Cellular component: cytosol;intermediate filament;extracellular exosome
• Molecular function: structural constituent of epidermis