KRT35

keratin 35, the group of Keratins, type I

Basic information

Region (hg38): 17:41476710-41481151

Previous symbols: [ "KRTHA5" ]

Links

ENSG00000197079 ∙ NCBI:3886 ∙ OMIM:602764 ∙ HGNC:6453 ∙ Uniprot:Q92764 ∙ 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 KRT35 gene.

• not_specified (79 variants)
• not_provided (3 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the KRT35 gene is commonly pathogenic or not. These statistics are base on transcript: NM_000002280.6. 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				3		3
missense			76	3		79
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	76	6	0

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
KRT35	protein_coding	protein_coding	ENST00000393989	7	4452

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.00000244	0.917	125690	0	58	125748	0.000231

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-0.469	302	280	1.08	0.0000175	2942
Missense in Polyphen		106	96.149	1.1025		1036
Synonymous	-0.441	120	114	1.05	0.00000666	931
Loss of Function	1.68	12	20.1	0.596	9.44e-7	239

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000744	0.000724
Ashkenazi Jewish	0.00	0.00
East Asian	0.000546	0.000544
Finnish	0.00	0.00
European (Non-Finnish)	0.000207	0.000202
Middle Eastern	0.000546	0.000544
South Asian	0.000229	0.000229
Other	0.000329	0.000326

dbNSFP

Source: dbNSFP

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

Recessive Scores

• pRec: 0.119

Intolerance Scores

• loftool: 0.195
• rvis_EVS: 0.6
• rvis_percentile_EVS: 82.9

Haploinsufficiency Scores

• pHI: 0.116
• hipred: N
• hipred_score: 0.199

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.651

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Krt35

Gene ontology

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