KRTAP4-1

keratin associated protein 4-1, the group of Keratin associated proteins

Basic information

Region (hg38): 17:41184100-41184911

Previous symbols: [ "KRTAP4-10" ]

Links

ENSG00000198443 ∙ NCBI:85285 ∙ ∙ HGNC:18907 ∙ Uniprot:Q9BYQ7 ∙ 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 KRTAP4-1 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the KRTAP4-1 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				1		1
missense			16			16
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	16	1	0

Variants in KRTAP4-1

This is a list of pathogenic ClinVar variants found in the KRTAP4-1 region.

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

Position	Type	Phenotype	Significance	ClinVar
17-41184434-A-G		not specified	Uncertain significance (Sep 24, 2024)
17-41184442-C-A		not specified	Uncertain significance (Jan 31, 2024)
17-41184443-G-A		not specified	Uncertain significance (May 03, 2024)
17-41184457-C-T		not specified	Uncertain significance (Jul 09, 2021)
17-41184475-C-G		not specified	Uncertain significance (Jan 18, 2023)
17-41184485-G-T		not specified	Uncertain significance (Mar 20, 2024)
17-41184537-G-C			Likely benign (Jul 01, 2022)
17-41184623-A-C		not specified	Uncertain significance (Jun 19, 2024)
17-41184629-G-A		not specified	Uncertain significance (Dec 27, 2023)
17-41184646-C-A		not specified	Uncertain significance (Aug 18, 2021)
17-41184707-A-G		not specified	Uncertain significance (Nov 17, 2023)
17-41184748-C-A		not specified	Uncertain significance (Jan 30, 2024)
17-41184755-A-G		not specified	Uncertain significance (Sep 04, 2024)
17-41184757-G-C		not specified	Uncertain significance (Jan 26, 2023)
17-41184771-G-C		not specified	Uncertain significance (Aug 12, 2021)
17-41184778-C-T		not specified	Uncertain significance (Oct 12, 2022)
17-41184821-C-G		not specified	Uncertain significance (Sep 20, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
KRTAP4-1	protein_coding	protein_coding	ENST00000398472	1	1241

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.00563	0.500	0	0	0	0	0.00

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-0.272	96	88.8	1.08	0.00000546	953
Missense in Polyphen		16	19.821	0.80721		211
Synonymous	-0.0915	27	26.4	1.02	0.00000116	274
Loss of Function	-0.119	3	2.79	1.08	1.20e-7	41

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

• 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: 0.0519
• hipred: N
• hipred_score: 0.170

Essentials

• gene_indispensability_pred: N
• gene_indispensability_score: 0.114

Gene Damage Prediction

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

Gene ontology

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