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.

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.

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				3		3
missense			31	2		33
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	31	5	0

Variants in KRT35

This is a list of pathogenic ClinVar variants found in the KRT35 region.

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

Position	Type	Phenotype	Significance	ClinVar
17-41477069-C-T		not specified	Uncertain significance (Oct 10, 2023)
17-41477093-C-T		not specified	Uncertain significance (Oct 14, 2023)
17-41477094-G-A		not specified	Uncertain significance (Jul 06, 2021)
17-41477127-C-T		not specified	Likely benign (May 25, 2022)
17-41477161-C-G		not specified	Uncertain significance (Dec 01, 2022)
17-41477175-A-T		not specified	Uncertain significance (Jun 03, 2024)
17-41477199-G-A		not specified	Uncertain significance (Dec 15, 2023)
17-41477546-G-A		not specified	Uncertain significance (May 15, 2024)
17-41477550-C-T			Likely benign (Apr 01, 2022)
17-41477572-C-T		not specified	Uncertain significance (Aug 17, 2021)
17-41477579-G-A		not specified	Uncertain significance (Feb 04, 2022)
17-41477590-A-T		not specified	Uncertain significance (Jul 27, 2022)
17-41477612-G-T		not specified	Uncertain significance (Jul 27, 2022)
17-41477726-C-G		not specified	Uncertain significance (Dec 02, 2022)
17-41478365-C-G		not specified	Uncertain significance (Feb 17, 2022)
17-41478396-C-T		not specified	Likely benign (Dec 14, 2021)
17-41478431-T-C		not specified	Uncertain significance (Mar 20, 2024)
17-41478455-C-G		not specified	Uncertain significance (Sep 06, 2022)
17-41478465-C-G		not specified	Uncertain significance (Sep 12, 2023)
17-41478980-G-A		not specified	Uncertain significance (Oct 27, 2021)
17-41478995-C-G		not specified	Uncertain significance (May 08, 2024)
17-41479391-A-G		not specified	Uncertain significance (Jun 27, 2023)
17-41479416-C-T			Likely benign (Apr 01, 2022)
17-41479447-C-T		not specified	Uncertain significance (Apr 26, 2023)
17-41479448-G-A		not specified	Uncertain significance (Dec 31, 2023)

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