KRT85

keratin 85, the group of Keratins, type II

Basic information

Region (hg38): 12:52360006-52367481

Previous symbols: [ "KRTHB5" ]

Links

ENSG00000135443 ∙ NCBI:3891 ∙ OMIM:602767 ∙ HGNC:6462 ∙ Uniprot:P78386 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

• pure hair and nail ectodermal dysplasia (Supportive), mode of inheritance: AD
• ectodermal dysplasia 4, hair/nail type (Definitive), mode of inheritance: AR
• ectodermal dysplasia 4, hair/nail type (Strong), mode of inheritance: AR

Clinical Genomic Database

Source: CGD

Condition	Inheritance	Intervention Categories	Intervention/Rationale	Manifestation Categories	References
Ectodermal dysplasia 4, hair-nail type	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	16525032; 19865094

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the KRT85 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the KRT85 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				16	7	23
missense			38	4	5	47
nonsense			1			1
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region				2	1	3
non coding					13	13
Total	0	0	39	20	25

Variants in KRT85

This is a list of pathogenic ClinVar variants found in the KRT85 region.

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

Position	Type	Phenotype	Significance	ClinVar
12-52360706-G-T			Benign (Jun 20, 2021)
12-52360731-T-C			Benign (Nov 12, 2018)
12-52360883-G-A			Likely benign (Apr 27, 2023)
12-52360891-A-G		not specified	Uncertain significance (May 08, 2023)
12-52360920-C-T		not specified	Uncertain significance (Mar 07, 2024)
12-52360927-CAG-C		Ectodermal dysplasia 4, hair/nail type	Pathogenic (Mar 01, 2010)
12-52360941-G-A		not specified	Uncertain significance (Oct 22, 2024)
12-52360941-G-C		not specified	Uncertain significance (Sep 20, 2023)
12-52360943-G-C		not specified	Uncertain significance (Jun 22, 2023)
12-52360969-C-G		not specified	Uncertain significance (Nov 12, 2021)
12-52360978-T-G		not specified	Uncertain significance (May 16, 2024)
12-52360983-C-T			Uncertain significance (Aug 16, 2022)
12-52360984-G-A			Uncertain significance (Apr 06, 2022)
12-52360991-G-A		KRT85-related disorder	Likely benign (Mar 13, 2019)
12-52361013-C-G		not specified	Uncertain significance (Apr 23, 2024)
12-52361016-C-T		not specified	Uncertain significance (Jan 16, 2024)
12-52361031-C-T		not specified	Uncertain significance (Aug 26, 2024)
12-52361032-G-A		not specified	Uncertain significance (Jun 26, 2024)
12-52361169-G-A			Benign (Jun 20, 2021)
12-52361313-A-T			Benign (Nov 12, 2018)
12-52361405-A-G			Benign (Nov 12, 2018)
12-52361484-A-G			Likely benign (Nov 28, 2023)
12-52361506-G-T			Likely benign (Sep 01, 2023)
12-52361557-T-C			Benign (Nov 12, 2018)
12-52362255-G-C		not specified	Uncertain significance (Apr 06, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
KRT85	protein_coding	protein_coding	ENST00000257901	9	7476

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.00000312	0.986	125563	0	185	125748	0.000736

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.395	302	322	0.938	0.0000239	3283
Missense in Polyphen		141	153.69	0.91742		1606
Synonymous	-0.476	142	135	1.05	0.0000101	1032
Loss of Function	2.23	13	25.0	0.520	0.00000146	273

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00200	0.00193
Ashkenazi Jewish	0.000199	0.000198
East Asian	0.00120	0.00120
Finnish	0.00219	0.00217
European (Non-Finnish)	0.000594	0.000589
Middle Eastern	0.00120	0.00120
South Asian	0.000261	0.000261
Other	0.000985	0.000978

dbNSFP

Source: dbNSFP

• Pathway: Keratinization;Developmental Biology (Consensus)

Recessive Scores

• pRec: 0.153

Intolerance Scores

• loftool: 0.195
• rvis_EVS: -0.46
• rvis_percentile_EVS: 23.63

Haploinsufficiency Scores

• pHI: 0.207
• hipred: N
• hipred_score: 0.370
• ghis: 0.420

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.704

Gene Damage Prediction

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

Gene ontology

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