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.

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.

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						0
missense			35	2		37
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	35	2	0

Variants in KRT33B

This is a list of pathogenic ClinVar variants found in the KRT33B region.

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

Position	Type	Phenotype	Significance	ClinVar
17-41363844-C-T		not specified	Uncertain significance (Feb 01, 2023)
17-41363868-G-A		not specified	Uncertain significance (Dec 19, 2022)
17-41363873-C-T		not specified	Uncertain significance (May 27, 2022)
17-41363874-G-A		not specified	Uncertain significance (Oct 29, 2024)
17-41363901-A-T		not specified	Uncertain significance (Nov 19, 2022)
17-41363903-C-A		not specified	Uncertain significance (Aug 05, 2024)
17-41363906-A-G		not specified	Uncertain significance (Oct 05, 2022)
17-41363917-A-C		not specified	Uncertain significance (Apr 17, 2023)
17-41364787-C-G		not specified	Uncertain significance (May 21, 2024)
17-41364836-G-A		not specified	Uncertain significance (Jan 04, 2024)
17-41364839-C-G		not specified	Uncertain significance (Jun 05, 2023)
17-41364951-A-C		not specified	Uncertain significance (Jan 23, 2024)
17-41364953-C-T		not specified	Uncertain significance (Dec 31, 2023)
17-41364960-G-A		not specified	Uncertain significance (Sep 17, 2021)
17-41364969-T-C		not specified	Uncertain significance (Feb 06, 2023)
17-41365199-G-C		not specified	Uncertain significance (Nov 14, 2023)
17-41365206-A-G		not specified	Uncertain significance (Nov 27, 2024)
17-41365212-T-C		not specified	Uncertain significance (Dec 04, 2024)
17-41365293-T-A		not specified	Uncertain significance (Apr 07, 2022)
17-41365294-C-T		not specified	Uncertain significance (Apr 07, 2022)
17-41365400-C-T		not specified	Likely benign (Apr 13, 2023)
17-41365424-G-A		not specified	Uncertain significance (Aug 19, 2024)
17-41365424-G-C		not specified	Uncertain significance (May 26, 2023)
17-41365438-A-G		not specified	Uncertain significance (Aug 27, 2024)
17-41365453-T-C		not specified	Likely benign (May 28, 2024)

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