KRT27

keratin 27, the group of Keratins, type I

Basic information

Region (hg38): 17:40776808-40782550

Previous symbols: [ "KRT25C" ]

Links

ENSG00000171446 ∙ NCBI:342574 ∙ OMIM:616676 ∙ HGNC:30841 ∙ Uniprot:Q7Z3Y8 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Transcripts

Transcript IDs starting with ENST are treated as Ensembl, all others as RefSeq. Showing 2 of 2.

Transcript ID	Protein ID	Coding exons	MANE Select	MANE Plus Clinical
ENST00000301656.4	ENSP00000301656.3	8	yes	-
NM_000181537.4	NP_000853515.2	8	yes	-

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the KRT27 gene.

• not_specified (65 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the KRT27 gene is commonly pathogenic or not. These statistics are base on transcript: NM_000181537.4. 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			1			1
missense			61	4		65
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)			2			2
Total	0	0	64	4	0

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
KRT27	protein_coding	protein_coding	ENST00000301656	8	5727

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
		123981	54	1713	125748	0.00705

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-0.0351	261	259	1.01	0.0000148	2967
Missense in Polyphen		116	110.61	1.0488		1288
Synonymous	0.264	108	112	0.968	0.00000741	924
Loss of Function	1.24	15	21.1	0.709	0.00000109	243

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000830	0.000829
Ashkenazi Jewish	0.00	0.00
East Asian	0.000218	0.000217
Finnish	0.0000463	0.0000462
European (Non-Finnish)	0.000372	0.000369
Middle Eastern	0.000218	0.000217
South Asian	0.0564	0.0562
Other	0.00426	0.00424

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Essential for the proper assembly of type I and type II keratin protein complexes and formation of keratin intermediate filaments in the inner root sheath (irs). {ECO:0000250|UniProtKB:Q9Z320}.
• Pathway: Estrogen signaling pathway - Homo sapiens (human);Keratinization;Developmental Biology (Consensus)

Recessive Scores

• pRec: 0.106

Intolerance Scores

• loftool: 0.232
• rvis_EVS: 1.6
• rvis_percentile_EVS: 95.88

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.201

Gene Damage Prediction

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

Gene ontology

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