KRT81

keratin 81, the group of Keratins, type II

Basic information

Region (hg38): 12:52285912-52291534

Previous symbols: [ "KRTHB1" ]

Links

ENSG00000205426 ∙ NCBI:3887 ∙ OMIM:602153 ∙ HGNC:6458 ∙ Uniprot:Q14533 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

• monilethrix (Limited), mode of inheritance: Unknown
• monilethrix (Supportive), mode of inheritance: AD

Clinical Genomic Database

Source: CGD

Condition	Inheritance	Intervention Categories	Intervention/Rationale	Manifestation Categories	References
Monilethrix	AD	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	9665406; 15744029; 22628999

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the KRT81 gene.

• not provided (30 variants)
• Inborn genetic diseases (20 variants)
• Beaded hair (3 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the KRT81 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				3	4	7
missense			21	2	4	27
nonsense						0
start loss			1			1
frameshift			1			1
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region					1	1
non coding				4	9	13
Total	0	0	23	9	17

Variants in KRT81

This is a list of pathogenic ClinVar variants found in the KRT81 region.

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

Position	Type	Phenotype	Significance	ClinVar
12-52286153-C-G			Benign (Jul 09, 2018)
12-52286224-T-C			Benign (Jul 09, 2018)
12-52286247-TG-T		KRT86-related disorder	Benign (Aug 01, 2022)
12-52286265-C-T		not specified	Uncertain significance (Apr 12, 2022)
12-52286299-A-T		not specified	Uncertain significance (Jun 12, 2023)
12-52286300-G-T		not specified	Uncertain significance (May 04, 2022)
12-52286313-G-C		not specified	Uncertain significance (Oct 04, 2022)
12-52286320-C-T			Benign (Jul 01, 2022)
12-52286331-C-G		not specified	Uncertain significance (Jan 03, 2024)
12-52286349-T-G		not specified	Uncertain significance (Jan 09, 2024)
12-52286377-C-T		not specified	Uncertain significance (Oct 04, 2022)
12-52286378-G-A		KRT81-related disorder	Likely benign (Jul 11, 2019)
12-52286388-G-A			Benign (Jul 09, 2018)
12-52286388-G-T		not specified	Uncertain significance (Jan 08, 2024)
12-52286391-A-G		not specified	Uncertain significance (Sep 20, 2023)
12-52286399-G-C		not specified	Uncertain significance (Jan 23, 2023)
12-52286406-G-T		not specified	Uncertain significance (Dec 01, 2022)
12-52286419-C-G		not specified	Uncertain significance (Jun 16, 2023)
12-52286436-C-T		not specified	Uncertain significance (Aug 09, 2021)
12-52286449-C-T		not specified	Uncertain significance (Sep 09, 2021)
12-52286461-C-T		KRT81-related disorder • not specified	Conflicting classifications of pathogenicity (Sep 01, 2021)
12-52286466-A-C		not specified	Uncertain significance (Feb 28, 2024)
12-52286475-C-G		not specified	Uncertain significance (Oct 03, 2023)
12-52286982-G-A			Benign (Jul 10, 2018)
12-52287112-C-T		Beaded hair	Pathogenic (Dec 01, 1997)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
KRT81	protein_coding	protein_coding	ENST00000327741	9	5622

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
1.21e-18	0.000193	125432	2	314	125748	0.00126

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-0.295	280	266	1.05	0.0000200	3237
Missense in Polyphen		65	66.103	0.98331		1048
Synonymous	-1.42	139	119	1.17	0.00000981	1010
Loss of Function	-1.76	23	15.5	1.48	6.82e-7	256

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00228	0.00227
Ashkenazi Jewish	0.000694	0.000695
East Asian	0.000109	0.000109
Finnish	0.000232	0.000231
European (Non-Finnish)	0.00155	0.00155
Middle Eastern	0.000109	0.000109
South Asian	0.00180	0.00177
Other	0.00147	0.00147

dbNSFP

Source: dbNSFP

• Pathway: Keratinization;Developmental Biology (Consensus)

Recessive Scores

• pRec: 0.160

Haploinsufficiency Scores

• pHI: 0.178
• hipred: N
• hipred_score: 0.220

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.624

Gene Damage Prediction

	All	Recessive	Dominant
Mendelian	Medium	Medium	Medium
Primary Immunodeficiency	Medium	Medium	High
Cancer	Medium	Medium	Medium

Mouse Genome Informatics

• Gene name: Krt81

Gene ontology

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