KRT84

keratin 84, the group of Keratins, type II

Basic information

Region (hg38): 12:52377812-52385652

Previous symbols: [ "KRTHB4" ]

Links

ENSG00000161849 ∙ NCBI:3890 ∙ OMIM:602766 ∙ HGNC:6461 ∙ Uniprot:Q9NSB2 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the KRT84 gene.

• not_specified (109 variants)
• not_provided (5 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the KRT84 gene is commonly pathogenic or not. These statistics are base on transcript: NM_000033045.4. 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	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous				1		1
missense			104	7		111
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	104	8	0

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
KRT84	protein_coding	protein_coding	ENST00000257951	9	7841

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
6.56e-10	0.424	125661	0	87	125748	0.000346

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-1.22	408	344	1.19	0.0000211	3874
Missense in Polyphen		140	123.23	1.1361		1438
Synonymous	-0.174	141	138	1.02	0.00000826	1236
Loss of Function	1.03	17	22.3	0.763	0.00000103	265

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00304	0.00300
Ashkenazi Jewish	0.00	0.00
East Asian	0.000109	0.000109
Finnish	0.00	0.00
European (Non-Finnish)	0.000220	0.000220
Middle Eastern	0.000109	0.000109
South Asian	0.000200	0.000196
Other	0.000164	0.000163

dbNSFP

Source: dbNSFP

• Pathway: Keratinization;Developmental Biology (Consensus)

Recessive Scores

• pRec: 0.122

Intolerance Scores

• loftool: 0.199
• rvis_EVS: 1.38
• rvis_percentile_EVS: 94.62

Haploinsufficiency Scores

• pHI: 0.0945
• hipred: N
• hipred_score: 0.144

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.588

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Krt84

Gene ontology

• Biological process: hair follicle development;cytoskeleton organization;keratinization;nail development;regulation of keratinocyte differentiation;cornification
• Cellular component: cytosol;keratin filament;extracellular exosome
• Molecular function: structural constituent of cytoskeleton;structural constituent of epidermis