KRTAP16-1

keratin associated protein 16-1, the group of Keratin associated proteins

Basic information

Region (hg38): 17:41307700-41309309

Links

ENSG00000212657 ∙ NCBI:100505753 ∙ ∙ HGNC:18916 ∙ Uniprot:A8MUX0 ∙ 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 KRTAP16-1 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the KRTAP16-1 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						0
missense			43	4		47
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	43	4	0

Variants in KRTAP16-1

This is a list of pathogenic ClinVar variants found in the KRTAP16-1 region.

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

Position	Type	Phenotype	Significance	ClinVar
17-41307713-G-C		not specified	Uncertain significance (Aug 05, 2024)
17-41307765-T-G		not specified	Uncertain significance (Oct 02, 2023)
17-41307891-C-T		not specified	Uncertain significance (May 14, 2024)
17-41307905-C-T		not specified	Uncertain significance (Aug 11, 2024)
17-41307906-G-A		not specified	Uncertain significance (Dec 21, 2023)
17-41307920-C-T		not specified	Uncertain significance (Jul 05, 2024)
17-41307921-G-A		not specified	Uncertain significance (Sep 01, 2021)
17-41307944-G-A		not specified	Uncertain significance (Apr 26, 2024)
17-41307947-G-A		not specified	Uncertain significance (May 27, 2022)
17-41307953-C-G		not specified	Uncertain significance (Dec 07, 2021)
17-41307954-G-A		not specified	Uncertain significance (Jul 02, 2024)
17-41307989-C-T		not specified	Uncertain significance (Apr 12, 2022)
17-41307992-T-C		not specified	Uncertain significance (Aug 10, 2024)
17-41307995-G-C		not specified	Uncertain significance (Oct 13, 2023)
17-41308013-G-A		not specified	Uncertain significance (May 09, 2022)
17-41308044-T-C		not specified	Uncertain significance (Apr 06, 2024)
17-41308050-G-A		not specified	Uncertain significance (Sep 15, 2021)
17-41308058-G-A		not specified	Uncertain significance (Mar 28, 2023)
17-41308068-C-A		not specified	Uncertain significance (Jul 20, 2021)
17-41308076-T-A		not specified	Uncertain significance (Feb 28, 2024)
17-41308079-G-A		not specified	Uncertain significance (Oct 09, 2024)
17-41308100-C-T		not specified	Likely benign (Jun 29, 2023)
17-41308101-G-A		not specified	Uncertain significance (Jan 30, 2024)
17-41308118-A-T		not specified	Uncertain significance (May 16, 2023)
17-41308150-G-C		not specified	Uncertain significance (Sep 15, 2021)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
KRTAP16-1	protein_coding	protein_coding	ENST00000391352	1	1554

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.00000835	0.772	0	0	0	0	0.00

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.737	263	299	0.880	0.0000166	3310
Missense in Polyphen		84	85.362	0.98405		903
Synonymous	0.992	99	112	0.881	0.00000602	1078
Loss of Function	1.21	10	15.1	0.663	8.08e-7	184

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00	0.00
Ashkenazi Jewish	0.00	0.00
East Asian	0.00	0.00
Finnish	0.00	0.00
European (Non-Finnish)	0.00	0.00
Middle Eastern	0.00	0.00
South Asian	0.00	0.00
Other	0.00	0.00

dbNSFP

Source: dbNSFP

Haploinsufficiency Scores

• pHI: 0.147
• ghis: 0.397

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.0972

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Krtap16-1

Gene ontology

• Biological process: keratinization
• Cellular component: cytosol;keratin filament