KRT27

keratin 27, the group of Keratins, type I

Basic information

Region (hg38): 17:40776808-40782550

Previous symbols: [ "KRT25C" ]

Links

ENSG00000171446NCBI:342574OMIM:616676HGNC:30841Uniprot:Q7Z3Y8AlphaFoldGenCCjaxSfariGnomADPubmedClinVar

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
clinvar
1
clinvar
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)3116416
17-40777279-T-C not specified Uncertain significance (Mar 14, 2024)3116415
17-40777570-C-G not specified Uncertain significance (Dec 19, 2023)3116414
17-40777612-C-G not specified Uncertain significance (Jul 05, 2023)2609813
17-40777618-C-T not specified Uncertain significance (Aug 21, 2023)2602663
17-40779569-T-C not specified Uncertain significance (May 31, 2022)2410624
17-40779585-T-C not specified Uncertain significance (May 11, 2022)2289193
17-40779706-G-C not specified Uncertain significance (Dec 15, 2022)2222235
17-40779716-G-C not specified Uncertain significance (May 15, 2024)3289391
17-40779732-G-A not specified Uncertain significance (Sep 16, 2021)2249711
17-40779794-A-C not specified Uncertain significance (Oct 03, 2022)2315379
17-40779814-C-A not specified Uncertain significance (Dec 17, 2023)3116420
17-40779837-C-T not specified Uncertain significance (Jun 09, 2022)2370543
17-40779861-C-T not specified Uncertain significance (Aug 05, 2022)2305424
17-40780343-G-T not specified Uncertain significance (Oct 18, 2021)2210807
17-40780355-A-G not specified Uncertain significance (Nov 18, 2022)2327449
17-40780434-G-A not specified Uncertain significance (Apr 27, 2022)2359939
17-40781219-C-T not specified Uncertain significance (Apr 18, 2023)2568739
17-40782069-A-G not specified Uncertain significance (Oct 03, 2022)2315538
17-40782109-G-A not specified Uncertain significance (Dec 28, 2023)3116419
17-40782271-T-A not specified Uncertain significance (Feb 17, 2024)3116418
17-40782273-C-T not specified Uncertain significance (Nov 15, 2021)2382707
17-40782355-A-T not specified Uncertain significance (Nov 14, 2023)3116417
17-40782384-C-A not specified Uncertain significance (Jun 28, 2022)2298489
17-40782448-C-G not specified Uncertain significance (May 17, 2023)2547601

GnomAD

Source: gnomAD

GeneTypeBio TypeTranscript Coding Exons Length
KRT27protein_codingprotein_codingENST00000301656 85727
pLI Probability
LOF Intolerant
pRec Probability
LOF Recessive
Individuals with
no LOFs
Individuals with
Homozygous LOFs
Individuals with
Heterozygous LOFs
Defined p
1.80e-80.6521239815417131257480.00705
Z-Score Observed Expected Observed/Expected Mutation Rate Total Possible in Transcript
Missense-0.03512612591.010.00001482967
Missense in Polyphen116110.611.04881288
Synonymous0.2641081120.9680.00000741924
Loss of Function1.241521.10.7090.00000109243

LoF frequencies by population

EthnicitySum of pLOFs p
African & African-American0.0008300.000829
Ashkenazi Jewish0.000.00
East Asian0.0002180.000217
Finnish0.00004630.0000462
European (Non-Finnish)0.0003720.000369
Middle Eastern0.0002180.000217
South Asian0.05640.0562
Other0.004260.00424

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
ghis

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

AllRecessiveDominant
MendelianHighHighHigh
Primary ImmunodeficiencyHighHighHigh
CancerHighHighHigh

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