KLHL33

kelch like family member 33, the group of Kelch like

Basic information

Region (hg38): 14:20425851-20436166

Links

ENSG00000185271 ∙ NCBI:123103 ∙ ∙ HGNC:31952 ∙ Uniprot:A6NCF5 ∙ 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 KLHL33 gene.

• Inborn genetic diseases (40 variants)
• not provided (2 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the KLHL33 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				1		1
missense			38	3		41
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	38	4	0

Variants in KLHL33

This is a list of pathogenic ClinVar variants found in the KLHL33 region.

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

Position	Type	Phenotype	Significance	ClinVar
14-20428857-C-A		not specified	Uncertain significance (Jan 30, 2024)
14-20428953-G-T		not specified	Uncertain significance (Sep 15, 2021)
14-20428964-C-A		not specified	Uncertain significance (May 31, 2023)
14-20428973-C-T		not specified	Uncertain significance (Sep 16, 2021)
14-20429024-C-T			Likely benign (Jul 01, 2022)
14-20429030-C-T		not specified	Uncertain significance (Aug 09, 2021)
14-20429088-G-T		not specified	Uncertain significance (Jun 05, 2023)
14-20429138-T-C		not specified	Uncertain significance (Nov 12, 2021)
14-20429175-G-T		not specified	Uncertain significance (Jul 12, 2022)
14-20429228-C-T		not specified	Uncertain significance (Jan 31, 2022)
14-20429258-C-T		not specified	Uncertain significance (Sep 01, 2021)
14-20429261-G-A		not specified	Uncertain significance (Aug 02, 2021)
14-20429358-C-T		not specified	Uncertain significance (Jan 26, 2022)
14-20429508-A-G		not specified	Uncertain significance (Jun 09, 2022)
14-20429511-T-C		not specified	Uncertain significance (Oct 13, 2023)
14-20429511-T-G		not specified	Uncertain significance (Jun 22, 2023)
14-20429556-T-C		not specified	Uncertain significance (Aug 02, 2022)
14-20429568-C-T		not specified	Uncertain significance (Feb 05, 2024)
14-20429578-A-T		not specified	Uncertain significance (Aug 12, 2021)
14-20429665-C-T		not specified	Uncertain significance (Dec 13, 2022)
14-20429669-C-T		not specified	Likely benign (Oct 10, 2023)
14-20429825-C-T		not specified	Uncertain significance (Jun 11, 2021)
14-20429876-G-A		not specified	Uncertain significance (Aug 30, 2022)
14-20429888-C-T		not specified	Uncertain significance (Jan 24, 2024)
14-20429900-G-A		not specified	Uncertain significance (Sep 16, 2021)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
KLHL33	protein_coding	protein_coding	ENST00000344581	3	6832

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.0000102	0.943	0	0	0	0	0.00

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.244	299	311	0.961	0.0000179	3341
Missense in Polyphen		90	101.35	0.88802		1110
Synonymous	1.40	110	130	0.844	0.00000687	1218
Loss of Function	1.78	11	19.5	0.565	0.00000131	183

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00	0.00
Ashkenazi Jewish	0.00	0.00
East Asian	0.00	0.00
Finnish	0.00	0.00
European (Non-Finnish)	0.00	0.00
Middle Eastern	0.00	0.00
South Asian	0.00	0.00
Other	0.00	0.00

dbNSFP

Source: dbNSFP

Intolerance Scores

• rvis_EVS: 1.68
• rvis_percentile_EVS: 96.38

Haploinsufficiency Scores

• pHI: 0.283

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.246

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Klhl33