KRT27
Basic information
Region (hg38): 17:40776808-40782550
Previous symbols: [ "KRT25C" ]
Links
Phenotypes
GenCC
Source:
ClinVar
This is a list of variants' phenotypes submitted to
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 | 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) | ||
17-40779569-T-C | not specified | Uncertain significance (May 31, 2022) | ||
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) | ||
17-40779794-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 (Jun 09, 2022) | ||
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 (Apr 27, 2022) | ||
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) | ||
17-40782271-T-A | not specified | Uncertain significance (Feb 17, 2024) | ||
17-40782273-C-T | not specified | Uncertain significance (Nov 15, 2021) | ||
17-40782355-A-T | not specified | Uncertain significance (Nov 14, 2023) | ||
17-40782384-C-A | not specified | Uncertain significance (Jun 28, 2022) | ||
17-40782448-C-G | not specified | Uncertain significance (May 17, 2023) |
GnomAD
Source:
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:
- 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
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