KRT33A

keratin 33A, the group of Keratins, type I

Basic information

Region (hg38): 17:41346092-41350828

Previous symbols: [ "KRTHA3A" ]

Links

ENSG00000006059 ∙ NCBI:3883 ∙ OMIM:602761 ∙ HGNC:6450 ∙ Uniprot:O76009 ∙ 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 KRT33A gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the KRT33A 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			42			42
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	42	0	0

Variants in KRT33A

This is a list of pathogenic ClinVar variants found in the KRT33A region.

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

Position	Type	Phenotype	Significance	ClinVar
17-41346151-G-A		not specified	Uncertain significance (Mar 31, 2022)
17-41346156-C-T		not specified	Uncertain significance (Sep 27, 2022)
17-41346180-C-T		not specified	Uncertain significance (Jun 11, 2024)
17-41346208-T-C		not specified	Uncertain significance (May 27, 2022)
17-41346225-T-C		not specified	Uncertain significance (Apr 07, 2023)
17-41346455-C-T		not specified	Uncertain significance (Apr 27, 2024)
17-41346458-C-T		not specified	Uncertain significance (Apr 22, 2024)
17-41346459-G-T		not specified	Uncertain significance (Aug 20, 2023)
17-41346505-G-T		not specified	Uncertain significance (Feb 01, 2023)
17-41346512-C-T		not specified	Uncertain significance (Feb 06, 2023)
17-41346531-C-A		not specified	Uncertain significance (Dec 15, 2023)
17-41346547-T-C		not specified	Uncertain significance (May 30, 2024)
17-41346559-C-A		not specified	Uncertain significance (Jun 16, 2023)
17-41346607-T-C		not specified	Uncertain significance (Feb 06, 2023)
17-41346629-G-A		not specified	Uncertain significance (Aug 16, 2021)
17-41346667-C-T		not specified	Uncertain significance (Aug 10, 2023)
17-41346867-C-T		not specified	Uncertain significance (May 31, 2023)
17-41346885-C-T		not specified	Uncertain significance (Aug 10, 2021)
17-41346963-C-T		not specified	Uncertain significance (Feb 09, 2023)
17-41347066-T-G		not specified	Uncertain significance (Jul 06, 2021)
17-41347092-C-T		not specified	Uncertain significance (Dec 01, 2022)
17-41347122-C-T		not specified	Uncertain significance (Apr 08, 2022)
17-41347152-T-C		not specified	Uncertain significance (Sep 26, 2022)
17-41347188-C-T		not specified	Uncertain significance (Apr 19, 2023)
17-41347189-G-A		not specified	Uncertain significance (Oct 27, 2021)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
KRT33A	protein_coding	protein_coding	ENST00000007735	7	4721

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
3.19e-17	0.00133	125596	1	151	125748	0.000605

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-1.02	294	249	1.18	0.0000167	2618
Missense in Polyphen		84	81.708	1.028		913
Synonymous	-0.411	118	112	1.05	0.00000741	815
Loss of Function	-0.823	23	19.1	1.20	9.06e-7	211

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00125	0.00125
Ashkenazi Jewish	0.000198	0.000198
East Asian	0.000489	0.000489
Finnish	0.0000924	0.0000924
European (Non-Finnish)	0.000565	0.000563
Middle Eastern	0.000489	0.000489
South Asian	0.00118	0.00114
Other	0.000988	0.000978

dbNSFP

Source: dbNSFP

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

Recessive Scores

• pRec: 0.125

Intolerance Scores

• loftool: 0.190
• rvis_EVS: 0.85
• rvis_percentile_EVS: 88.42

Haploinsufficiency Scores

• pHI: 0.102
• hipred: N
• hipred_score: 0.264
• ghis: 0.405

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.759

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Krt33a
• Phenotype: integument phenotype (the observable morphological and physiological characteristics of the skin and its associated structures, such as the hair, nails, sweat glands, sebaceous glands and other secretory glands that are manifested through development and lifespan)

Gene ontology

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