KLHL34

kelch like family member 34, the group of BTB domain containing|Kelch like

Basic information

Region (hg38): X:21654690-21658330

Links

ENSG00000185915 ∙ NCBI:257240 ∙ ∙ HGNC:26634 ∙ Uniprot:Q8N239 ∙ 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 KLHL34 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the KLHL34 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			28			28
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	28	1	0

Variants in KLHL34

This is a list of pathogenic ClinVar variants found in the KLHL34 region.

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

Position	Type	Phenotype	Significance	ClinVar
X-21655901-C-T		not specified	Uncertain significance (Sep 13, 2023)
X-21655967-C-A		not specified	Uncertain significance (Nov 16, 2021)
X-21656014-A-G		not specified	Uncertain significance (Dec 15, 2022)
X-21656071-G-T		not specified	Uncertain significance (Sep 26, 2022)
X-21656081-C-T		not specified	Uncertain significance (Dec 28, 2022)
X-21656087-C-T		not specified	Uncertain significance (Aug 04, 2023)
X-21656234-G-C		not specified	Uncertain significance (Mar 25, 2024)
X-21656282-C-T		not specified	Uncertain significance (Oct 03, 2022)
X-21656419-C-T		not specified	Uncertain significance (Jan 16, 2024)
X-21656506-A-T		not specified	Uncertain significance (May 31, 2022)
X-21656562-G-A			Likely benign (May 01, 2022)
X-21656691-G-T		not specified	Uncertain significance (Nov 22, 2021)
X-21656707-A-G		not specified	Uncertain significance (Jan 20, 2023)
X-21656707-A-T		not specified	Uncertain significance (Dec 21, 2023)
X-21656728-G-C		not specified	Uncertain significance (Aug 08, 2022)
X-21656756-G-C		not specified	Uncertain significance (Jul 19, 2023)
X-21656761-T-C		not specified	Uncertain significance (Aug 08, 2023)
X-21656762-T-C		not specified	Uncertain significance (Mar 21, 2024)
X-21656768-C-T		not specified	Uncertain significance (Dec 14, 2021)
X-21656869-C-G		not specified	Uncertain significance (May 31, 2023)
X-21656882-T-A		not specified	Uncertain significance (Dec 27, 2023)
X-21656897-C-T		not specified	Uncertain significance (Jan 04, 2022)
X-21656992-G-A		not specified	Uncertain significance (Jan 07, 2022)
X-21657070-G-C		not specified	Uncertain significance (Mar 17, 2023)
X-21657076-G-A		not specified	Uncertain significance (May 04, 2022)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
KLHL34	protein_coding	protein_coding	ENST00000379499	1	2840

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.0000300	0.572	0	0	0	0	0.00

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	1.46	229	300	0.763	0.0000303	3995
Missense in Polyphen		73	88.797	0.8221		1319
Synonymous	2.47	113	152	0.745	0.0000160	1463
Loss of Function	0.709	8	10.5	0.764	7.24e-7	176

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

• loftool: 0.426
• rvis_EVS: -0.1
• rvis_percentile_EVS: 46.49

Haploinsufficiency Scores

• pHI: 0.587
• hipred: N
• hipred_score: 0.272
• ghis: 0.468

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.169

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Klhl34

Gene ontology

• Cellular component: extracellular space