KRT10
keratin 10, the group of Keratins, type I
Basic information
Region (hg38): 17:40818117-40822614
Previous symbols: [ "KPP" ]
Links
Phenotypes
GenCC
Source:
- epidermolytic ichthyosis (Strong), mode of inheritance: AD
- congenital reticular ichthyosiform erythroderma (Strong), mode of inheritance: AD
- annular epidermolytic ichthyosis (Strong), mode of inheritance: AD
- annular epidermolytic ichthyosis (Strong), mode of inheritance: AD
- congenital reticular ichthyosiform erythroderma (Strong), mode of inheritance: AD
- epidermolytic ichthyosis (Strong), mode of inheritance: AD
- epidermolytic ichthyosis (Strong), mode of inheritance: AR
- epidermolytic ichthyosis (Supportive), mode of inheritance: AD
- annular epidermolytic ichthyosis (Supportive), mode of inheritance: AD
- congenital reticular ichthyosiform erythroderma (Supportive), mode of inheritance: AD
- autosomal recessive epidermolytic ichthyosis (Supportive), mode of inheritance: AR
- ichthyosis, annular epidermolytic 1 (Strong), mode of inheritance: AD
- epidermolytic ichthyosis (Strong), mode of inheritance: AR
- epidermolytic hyperkeratosis 2B, autosomal recessive (Moderate), mode of inheritance: AR
- epidermolytic hyperkeratosis 2A, autosomal dominant (Strong), mode of inheritance: AD
- annular epidermolytic ichthyosis (Definitive), mode of inheritance: AD
Clinical Genomic Database
Source:
| Condition | Inheritance | Intervention Categories | Intervention/Rationale | Manifestation Categories | References |
|---|---|---|---|---|---|
| Erythroderma, ichthyosiform, congenital reticular; Aaru disease; Ichthyosis, annular epidermolytic, 1; Epidermolytic hyperkeratosis 1; Epidermolytic hyperkeratosis 2A, autosomal dominant; Epidermolytic hyperkeratosis 2B, autosomal recessive; Ichthyosis with confetti | AD/AR | General | Genetic knowledge may be beneficial related to issues such as selection of optimal supportive care, informed medical decision-making, prognostic considerations, and avoidance of unnecessary testing | Dermatologic | 1381287; 1380725; 7682695; 9036939; 19443303; 19474805; 19689541; 20302579; 20798280; 21271994; 21463361; 21929535; 22035476 |
ClinVar
This is a list of variants' phenotypes submitted to
- not_provided (156 variants)
- Inborn_genetic_diseases (49 variants)
- KRT10-related_disorder (34 variants)
- Congenital_reticular_ichthyosiform_erythroderma (17 variants)
- Epidermolytic_hyperkeratosis_2A,_autosomal_dominant (15 variants)
- Epidermolytic_hyperkeratosis_2B,_autosomal_recessive (8 variants)
- Ichthyosis_hystrix_gravior (6 variants)
- Ichthyosis,_annular_epidermolytic_1 (6 variants)
- Epidermolytic_ichthyosis (6 variants)
- Annular_epidermolytic_ichthyosis (5 variants)
- not_specified (5 variants)
- Epidermolytic_hyperkeratosis_1 (4 variants)
- Autosomal_dominant_epidermolytic_ichthyosis (1 variants)
- See_cases (1 variants)
- Epidermolytic_nevus (1 variants)
- Epidermolytic_acanthoma (1 variants)
Variants pathogenicity by type
Statistics on ClinVar variants can assist in determining whether a specific variant type in the KRT10 gene is commonly pathogenic or not. These statistics are base on transcript: NM_000000421.5. 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 | PathogenicP | Likely pathogenicLP | VUSVUS | Likely benignLB | BenignB | Sum |
|---|---|---|---|---|---|---|
| synonymous | 30 | 38 | ||||
| missense | 18 | 85 | 16 | 132 | ||
| nonsense | 4 | |||||
| start loss | 0 | |||||
| frameshift | 9 | |||||
| splice donor/acceptor (+/-2bp) | 8 | |||||
| Total | 30 | 9 | 91 | 46 | 15 |
Loading clinvar variants...
GnomAD
Source:
| Gene | Type | Bio Type | Transcript | Coding Exons | Length |
|---|---|---|---|---|---|
| KRT10 | protein_coding | protein_coding | ENST00000269576 | 8 | 4479 |
| pLI Probability LOF Intolerant | pRec Probability LOF Recessive | Individuals with no LOFs | Individuals with Homozygous LOFs | Individuals with Heterozygous LOFs | Defined | p |
|---|---|---|---|---|---|---|
| 0.00253 | 0.997 | 125732 | 0 | 16 | 125748 | 0.0000636 |
| Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible in Transcript | |
|---|---|---|---|---|---|---|
| Missense | 0.253 | 280 | 292 | 0.958 | 0.0000160 | 3704 |
| Missense in Polyphen | 94 | 118.62 | 0.79242 | 1548 | ||
| Synonymous | -1.56 | 141 | 119 | 1.18 | 0.00000619 | 1210 |
| Loss of Function | 3.00 | 9 | 25.3 | 0.356 | 0.00000132 | 304 |
LoF frequencies by population
| Ethnicity | Sum of pLOFs | p |
|---|---|---|
| African & African-American | 0.00 | 0.00 |
| Ashkenazi Jewish | 0.0000992 | 0.0000992 |
| East Asian | 0.000163 | 0.000163 |
| Finnish | 0.0000462 | 0.0000462 |
| European (Non-Finnish) | 0.0000442 | 0.0000439 |
| Middle Eastern | 0.000163 | 0.000163 |
| South Asian | 0.000265 | 0.000196 |
| Other | 0.00 | 0.00 |
dbNSFP
Source:
- Function
- FUNCTION: Plays a role in the establishment of the epidermal barrier on plantar skin. {ECO:0000250|UniProtKB:P02535}.;
- Disease
- DISEASE: Epidermolytic hyperkeratosis (EHK) [MIM:113800]: An autosomal dominant skin disorder characterized by widespread blistering and an ichthyotic erythroderma at birth that persist into adulthood. Histologically there is a diffuse epidermolytic degeneration in the lower spinous layer of the epidermis. Within a few weeks from birth, erythroderma and blister formation diminish and hyperkeratoses develop. {ECO:0000269|PubMed:10201536, ECO:0000269|PubMed:1380725, ECO:0000269|PubMed:1381287, ECO:0000269|PubMed:21271994, ECO:0000269|PubMed:7507150, ECO:0000269|PubMed:7507152, ECO:0000269|PubMed:7508181, ECO:0000269|PubMed:7512983, ECO:0000269|PubMed:7526210, ECO:0000269|Ref.7}. Note=The disease is caused by mutations affecting the gene represented in this entry.; DISEASE: Ichthyosis annular epidermolytic (AEI) [MIM:607602]: A skin disorder resembling bullous congenital ichthyosiform erythroderma. Affected individuals present with bullous ichthyosis in early childhood and hyperkeratotic lichenified plaques in the flexural areas and extensor surfaces at later ages. The feature that distinguishes AEI from BCIE is dramatic episodes of flares of annular polycyclic plaques with scale, which coalesce to involve most of the body surface and can persist for several weeks or even months. {ECO:0000269|PubMed:9036939, ECO:0000269|PubMed:9856845}. Note=The disease is caused by mutations affecting the gene represented in this entry.; DISEASE: Erythroderma, ichthyosiform, congenital reticular (CRIE) [MIM:609165]: A rare skin condition characterized by slowly enlarging islands of normal skin surrounded by erythematous ichthyotic patches in a reticulated pattern. The condition starts in infancy as a lamellar ichthyosis, with small islands of normal skin resembling confetti appearing in late childhood and at puberty. Histopathologic findings include band-like parakeratosis, psoriasiform acanthosis, and vacuolization of keratinocytes with binucleated cells in the upper epidermis, sometimes associated with amyloid deposition in the dermis. Ultrastructural abnormalities include perinuclear shells formed from a network of fine filaments in the upper epidermis. {ECO:0000269|PubMed:20798280}. Note=The disease is caused by mutations affecting the gene represented in this entry.;
- Pathway
- Staphylococcus aureus infection - Homo sapiens (human);Estrogen signaling pathway - Homo sapiens (human);Hair Follicle Development- Induction (Part 1 of 3);Keratinization;Developmental Biology
(Consensus)
Recessive Scores
- pRec
- 0.540
Intolerance Scores
- loftool
- 0.0859
- rvis_EVS
- 0.22
- rvis_percentile_EVS
- 68.38
Haploinsufficiency Scores
- pHI
- 0.541
- hipred
- N
- hipred_score
- 0.471
- ghis
- 0.601
Essentials
- essential_gene_CRISPR
- N
- essential_gene_CRISPR2
- N
- essential_gene_gene_trap
- N
- gene_indispensability_pred
- E
- gene_indispensability_score
- 0.734
Gene Damage Prediction
| All | Recessive | Dominant | |
|---|---|---|---|
| Mendelian | Medium | Medium | Medium |
| Primary Immunodeficiency | Medium | Medium | Medium |
| Cancer | Medium | Medium | Medium |
Mouse Genome Informatics
- Gene name
- Krt10
- Phenotype
- craniofacial 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); growth/size/body region phenotype; neoplasm; endocrine/exocrine gland phenotype; hearing/vestibular/ear phenotype; limbs/digits/tail phenotype; immune system phenotype; mortality/aging (the observable characteristics related to the ability of a mammalian organism to live and age that are manifested throughout development and life span);
Gene ontology
- Biological process
- peptide cross-linking;keratinocyte differentiation;keratinization;positive regulation of epidermis development;protein heterotetramerization;cornification
- Cellular component
- cornified envelope;extracellular space;nucleus;cytoplasm;cytosol;intermediate filament;membrane;extracellular exosome
- Molecular function
- structural constituent of epidermis;protein heterodimerization activity