KRTAP10-7

keratin associated protein 10-7, the group of Keratin associated proteins

Basic information

Region (hg38): 21:44600596-44602174

Previous symbols: [ "KRTAP18-7" ]

Links

ENSG00000272804 ∙ NCBI:386675 ∙ ∙ HGNC:22970 ∙ Uniprot:P60409 ∙ 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 KRTAP10-7 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the KRTAP10-7 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				2		2
missense			19	4	1	24
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	19	6	1

Variants in KRTAP10-7

This is a list of pathogenic ClinVar variants found in the KRTAP10-7 region.

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

Position	Type	Phenotype	Significance	ClinVar
21-44600655-G-A		not specified	Likely benign (Nov 01, 2021)
21-44600667-G-A			Likely benign (Jan 24, 2017)
21-44600707-C-T		not specified	Uncertain significance (Jun 10, 2024)
21-44600709-G-A		not specified	Uncertain significance (Feb 15, 2023)
21-44600716-G-T		not specified	Uncertain significance (Dec 27, 2023)
21-44600726-C-A		not specified	Uncertain significance (Oct 27, 2023)
21-44600755-C-A		not specified	Uncertain significance (Nov 22, 2023)
21-44600755-C-G		not specified	Uncertain significance (Feb 17, 2022)
21-44600760-T-A		not specified	Uncertain significance (Jun 05, 2023)
21-44600763-G-A		not specified	Likely benign (May 23, 2023)
21-44600767-C-T		not specified	Uncertain significance (Jan 24, 2024)
21-44600806-A-G		not specified	Benign (May 04, 2022)
21-44600867-C-G			Likely benign (Sep 01, 2022)
21-44600899-C-T		not specified	Uncertain significance (Nov 18, 2023)
21-44600973-G-T		not specified	Uncertain significance (Jan 02, 2024)
21-44600991-T-C		not specified	Uncertain significance (Sep 13, 2023)
21-44601115-G-A		not specified	Uncertain significance (Jan 02, 2024)
21-44601255-T-C		not specified	Uncertain significance (Jun 19, 2024)
21-44601256-C-T		not specified	Uncertain significance (Jul 05, 2022)
21-44601290-T-G			Likely benign (Aug 01, 2023)
21-44601543-T-C		not specified	Uncertain significance (Feb 27, 2023)
21-44601576-C-T		not specified	Uncertain significance (Jan 26, 2022)
21-44601586-G-A		not specified	Uncertain significance (Feb 16, 2023)
21-44601608-C-G		not specified	Uncertain significance (Oct 27, 2022)
21-44601685-C-G			Likely benign (Jan 01, 2023)

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP

• Function: FUNCTION: In the hair cortex, hair keratin intermediate filaments are embedded in an interfilamentous matrix, consisting of hair keratin-associated proteins (KRTAP), which are essential for the formation of a rigid and resistant hair shaft through their extensive disulfide bond cross-linking with abundant cysteine residues of hair keratins. The matrix proteins include the high- sulfur and high-glycine-tyrosine keratins.
• Pathway: Vitamin D Receptor Pathway (Consensus)

Haploinsufficiency Scores

• pHI: 0.118
• hipred: N
• hipred_score: 0.187

Essentials

• essential_gene_CRISPR2: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.197

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Krtap10-4

Gene ontology

• Biological process: keratinization
• Cellular component: cytosol;keratin filament
• Molecular function: protein binding;identical protein binding