GeneBe

KRT86

keratin 86, the group of Keratins, type II

Basic information

Region (hg38): 12:52249300-52309163

Previous symbols: [ "KRTHB6" ]

Links

ENSG00000170442 ∙ NCBI:3892 ∙ OMIM:601928 ∙ HGNC:6463 ∙ Uniprot:O43790 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

  • monilethrix (Strong), mode of inheritance: AD
  • monilethrix (Moderate), mode of inheritance: AD
  • monilethrix (Supportive), mode of inheritance: AD
  • monilethrix-1 (Moderate), mode of inheritance: AD

Clinical Genomic Database

Source: CGD

ConditionInheritanceIntervention CategoriesIntervention/Rationale Manifestation CategoriesReferences
MonilethrixADGeneralGenetic knowledge may be beneficial related to issues such as selection of optimal supportive care, informed medical decision-making, prognostic considerations, and avoidance of unnecessary testingDermatologic9241275; 9665406; 10878478; 15744029; 19400537; 22568869; 22670615

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the KRT86 gene.

  • not_specified (83 variants)
  • Inborn_genetic_diseases (77 variants)
  • not_provided (49 variants)
  • Monilethrix (10 variants)
  • Monilethrix-1 (7 variants)
  • Monilethrix-2 (2 variants)
  • KRT81-related_disorder (2 variants)
  • KRT86-related_disorder (2 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the KRT86 gene is commonly pathogenic or not. These statistics are base on transcript: NM_001320198.2. 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.

EffectPLPVUSLBBSum
synonymous
1
clinvar
6
clinvar
1
clinvar
 8
missense
6
clinvar
77
clinvar
5
clinvar
1
clinvar
 89
nonsense
0
start loss
0
frameshift
0
splice donor/acceptor (+/-2bp)
0
Total 6 0 78 11 2

Highest pathogenic variant AF is 0.00116095

Loading clinvar variants...

GnomAD

Source: gnomAD

GeneTypeBio TypeTranscript Coding Exons Length
KRT86protein_codingprotein_codingENST00000293525 959864
pLI Probability
LOF Intolerant 		pRec Probability
LOF Recessive 		Individuals with
no LOFs 		Individuals with
Homozygous LOFs 		Individuals with
Heterozygous LOFs 		Defined p
3.61e-70.5791256990491257480.000195
Z-Score Observed Expected Observed/Expected Mutation Rate Total Possible in Transcript
Missense-1.273092521.220.00001783120
Missense in Polyphen9886.9251.12741256
Synonymous-1.871341091.230.00000791957
Loss of Function0.9801216.30.7387.17e-7256

LoF frequencies by population

EthnicitySum of pLOFs p
African & African-American0.0007170.000717
Ashkenazi Jewish0.000.00
East Asian0.000.00
Finnish0.000.00
European (Non-Finnish)0.0001240.000123
Middle Eastern0.000.00
South Asian0.0005230.000523
Other0.0001650.000163

dbNSFP

Source: dbNSFP

Pathway
Keratinization;Developmental Biology (Consensus)

Recessive Scores

pRec
0.148

Haploinsufficiency Scores

pHI
0.0711
hipred
N
hipred_score
0.220
ghis

Essentials

essential_gene_CRISPR
N
essential_gene_CRISPR2
S
essential_gene_gene_trap
N
gene_indispensability_pred
N
gene_indispensability_score
0.412

Gene Damage Prediction

AllRecessiveDominant
MendelianMediumMediumMedium
Primary ImmunodeficiencyMediumMediumMedium
CancerMediumMediumMedium

Mouse Genome Informatics

Gene name
Krt86
Phenotype

Gene ontology

Biological process
keratinization;cornification
Cellular component
extracellular space;cytosol;keratin filament
Molecular function
structural molecule activity;protein binding