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

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

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

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.

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			25	1		26
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	25	1	0

Variants in KRT27

This is a list of pathogenic ClinVar variants found in the KRT27 region.

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

Position	Type	Phenotype	Significance	ClinVar
17-40777010-C-A		not specified	Uncertain significance (Feb 06, 2024)
17-40777279-T-C		not specified	Uncertain significance (Mar 14, 2024)
17-40777570-C-G		not specified	Uncertain significance (Dec 19, 2023)
17-40777612-C-G		not specified	Uncertain significance (Jul 05, 2023)
17-40777618-C-T		not specified	Uncertain significance (Aug 21, 2023)
17-40779503-G-A		not specified	Likely benign (Dec 03, 2024)
17-40779569-T-C		not specified	Uncertain significance (Jul 05, 2024)
17-40779585-T-C		not specified	Uncertain significance (May 11, 2022)
17-40779706-G-C		not specified	Uncertain significance (Dec 15, 2022)
17-40779716-G-C		not specified	Uncertain significance (May 15, 2024)
17-40779732-G-A		not specified	Uncertain significance (Sep 16, 2021)
17-40779749-G-T		not specified	Likely benign (Oct 21, 2024)
17-40779794-A-C		not specified	Uncertain significance (Oct 03, 2022)
17-40779814-C-A		not specified	Uncertain significance (Dec 17, 2023)
17-40779837-C-T		not specified	Uncertain significance (Nov 11, 2024)
17-40779843-A-G		not specified	Uncertain significance (Jul 09, 2024)
17-40779861-C-T		not specified	Uncertain significance (Aug 05, 2022)
17-40780343-G-T		not specified	Uncertain significance (Oct 18, 2021)
17-40780355-A-G		not specified	Uncertain significance (Nov 18, 2022)
17-40780434-G-A		not specified	Uncertain significance (Sep 20, 2024)
17-40781219-C-T		not specified	Uncertain significance (Apr 18, 2023)
17-40782069-A-G		not specified	Uncertain significance (Oct 03, 2022)
17-40782109-G-A		not specified	Uncertain significance (Dec 28, 2023)
17-40782168-T-C		not specified	Uncertain significance (Nov 29, 2024)
17-40782263-G-T		not specified	Uncertain significance (Sep 27, 2024)

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
1.80e-8	0.652	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

Haploinsufficiency Scores

• pHI: 0.527
• hipred: N
• hipred_score: 0.285

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

Mouse Genome Informatics

• Gene name: Krt27
• Phenotype: integument phenotype (the observable morphological and physiological characteristics of the skin and its associated structures, such as the hair, nails, sweat glands, sebaceous glands and other secretory glands that are manifested through development and lifespan)

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