KLHL32

kelch like family member 32, the group of BTB domain containing|Kelch like

Basic information

Region (hg38): 6:96924619-97140754

Previous symbols: [ "BKLHD5", "KIAA1900" ]

Links

ENSG00000186231 ∙ NCBI:114792 ∙ ∙ HGNC:21221 ∙ Uniprot:Q96NJ5 ∙ 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 KLHL32 gene.

• Inborn genetic diseases (20 variants)
• not provided (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the KLHL32 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			19			19
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding			1			1
Total	0	0	20	1	0

Variants in KLHL32

This is a list of pathogenic ClinVar variants found in the KLHL32 region.

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

Position	Type	Phenotype	Significance	ClinVar
6-96976037-G-A		not specified	Uncertain significance (May 16, 2023)
6-96976065-C-T		not specified	Uncertain significance (Dec 17, 2023)
6-96976077-A-C		not specified	Uncertain significance (Jul 05, 2023)
6-96976137-C-T		not specified	Uncertain significance (Jul 15, 2021)
6-97041574-C-T		not specified	Uncertain significance (Nov 27, 2023)
6-97064668-C-A		not specified	Uncertain significance (Nov 18, 2022)
6-97064713-A-G		not specified	Uncertain significance (Feb 28, 2024)
6-97085207-G-A		not specified	Uncertain significance (Apr 05, 2023)
6-97085306-C-T		not specified	Uncertain significance (Jul 20, 2022)
6-97085307-G-A		not specified	Uncertain significance (Apr 17, 2023)
6-97113865-A-C		not specified	Uncertain significance (May 30, 2023)
6-97113908-C-T			Likely benign (Aug 01, 2022)
6-97113966-A-G		not specified	Uncertain significance (Jul 19, 2023)
6-97113970-A-G		not specified	Uncertain significance (Jul 12, 2023)
6-97114035-A-G		not specified	Uncertain significance (Dec 08, 2023)
6-97114047-A-G		not specified	Uncertain significance (Jun 18, 2021)
6-97114068-A-G		not specified	Uncertain significance (Jun 10, 2022)
6-97114119-G-C		not specified	Uncertain significance (Apr 14, 2022)
6-97114273-C-G		not specified	Uncertain significance (Sep 29, 2022)
6-97114276-G-A		not specified	Uncertain significance (Mar 01, 2023)
6-97114279-G-C		not specified	Uncertain significance (Dec 18, 2023)
6-97114290-G-T		not specified	Uncertain significance (Aug 14, 2023)
6-97114336-G-A		not specified	Uncertain significance (Feb 27, 2024)
6-97114384-G-A		not specified	Uncertain significance (Jul 27, 2023)
6-97114398-A-G		not specified	Uncertain significance (Jan 23, 2024)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
KLHL32	protein_coding	protein_coding	ENST00000369261	10	216026

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.00935	0.991	125724	0	24	125748	0.0000954

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	2.03	238	344	0.692	0.0000190	4070
Missense in Polyphen		110	189.04	0.58188		2180
Synonymous	0.196	126	129	0.978	0.00000693	1209
Loss of Function	3.42	9	28.8	0.313	0.00000142	334

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000423	0.000423
Ashkenazi Jewish	0.0000994	0.0000992
East Asian	0.000165	0.000163
Finnish	0.00	0.00
European (Non-Finnish)	0.0000881	0.0000879
Middle Eastern	0.000165	0.000163
South Asian	0.0000327	0.0000327
Other	0.00	0.00

dbNSFP

Source: dbNSFP

Intolerance Scores

• loftool: 0.564
• rvis_EVS: -0.38
• rvis_percentile_EVS: 28.01

Haploinsufficiency Scores

• pHI: 0.0828
• hipred: Y
• hipred_score: 0.685
• ghis: 0.550

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.502

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Klhl32