KRT33B

keratin 33B, the group of Keratins, type I

Basic information

Region (hg38): 17:41363498-41369813

Previous symbols: [ "KRTHA3B" ]

Links

ENSG00000131738 ∙ NCBI:3884 ∙ OMIM:602762 ∙ HGNC:6451 ∙ Uniprot:Q14525 ∙ 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 KRT33B gene.

• not_specified (73 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the KRT33B gene is commonly pathogenic or not. These statistics are base on transcript: NM_000002279.5. 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	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous						0
missense			70	3		73
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	70	3	0

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
KRT33B	protein_coding	protein_coding	ENST00000251646	7	6307

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
4.43e-17	0.00161	125583	2	163	125748	0.000656

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-0.472	271	250	1.08	0.0000166	2633
Missense in Polyphen		65	72.638	0.89485		894
Synonymous	-2.01	138	111	1.24	0.00000726	805
Loss of Function	-0.740	23	19.5	1.18	9.22e-7	209

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00308	0.00294
Ashkenazi Jewish	0.00	0.00
East Asian	0.0000544	0.0000544
Finnish	0.000139	0.000139
European (Non-Finnish)	0.000643	0.000642
Middle Eastern	0.0000544	0.0000544
South Asian	0.000501	0.000425
Other	0.000489	0.000489

dbNSFP

Source: dbNSFP

• Pathway: Estrogen signaling pathway - Homo sapiens (human);Keratinization;Developmental Biology (Consensus)

Intolerance Scores

• loftool: 0.192
• rvis_EVS: 0.73
• rvis_percentile_EVS: 86.27

Haploinsufficiency Scores

• pHI: 0.263
• hipred: N
• hipred_score: 0.146
• ghis: 0.396

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.769

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Krt33b

Gene ontology

• Biological process: aging;keratinization;hair cycle;cornification
• Cellular component: extracellular space;cytosol;intermediate filament;extracellular exosome
• Molecular function: structural molecule activity;protein binding