KRT24

keratin 24, the group of Keratins, type I

Basic information

Region (hg38): 17:40697991-40703752

Links

ENSG00000167916 ∙ NCBI:192666 ∙ OMIM:607742 ∙ HGNC:18527 ∙ Uniprot:Q2M2I5 ∙ 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 KRT24 gene.

• not_specified (67 variants)
• not_provided (8 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the KRT24 gene is commonly pathogenic or not. These statistics are base on transcript: NM_000019016.3. 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				2	3	5
missense			62	5	2	69
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	62	7	5

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
KRT24	protein_coding	protein_coding	ENST00000264651	8	5760

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
1.34e-16	0.00595	45926	28767	51054	125747	0.396

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-0.0700	303	300	1.01	0.0000167	3385
Missense in Polyphen		87	96.727	0.89944		1272
Synonymous	0.356	114	119	0.958	0.00000692	1073
Loss of Function	-0.125	24	23.3	1.03	0.00000126	276

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.922	0.890
Ashkenazi Jewish	0.421	0.383
East Asian	0.604	0.399
Finnish	0.520	0.499
European (Non-Finnish)	0.428	0.371
Middle Eastern	0.604	0.399
South Asian	0.578	0.468
Other	0.473	0.363

dbNSFP

Source: dbNSFP

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

Recessive Scores

• pRec: 0.0654

Intolerance Scores

• loftool: 0.234
• rvis_EVS: 1.09
• rvis_percentile_EVS: 91.9

Haploinsufficiency Scores

• pHI: 0.222
• hipred: N
• hipred_score: 0.123

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.0147

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Krt24

Gene ontology

• Biological process: biological_process;keratinization;cornification
• Cellular component: cytosol;intermediate filament;extracellular exosome
• Molecular function: molecular_function;structural molecule activity