KLHL35

kelch like family member 35, the group of BTB domain containing|Kelch like

Basic information

Region (hg38): 11:75422394-75433203

Links

ENSG00000149243 ∙ NCBI:283212 ∙ ∙ HGNC:26597 ∙ Uniprot:Q6PF15 ∙ 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 KLHL35 gene.

• not_specified (136 variants)
• not_provided (4 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the KLHL35 gene is commonly pathogenic or not. These statistics are base on transcript: NM_001039548.3. Only rare variants are included in the table.

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.

Effect	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous				3		3
missense			132	5		137
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	132	8	0

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
KLHL35	protein_coding	protein_coding	ENST00000539798	6	8237

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
2.37e-15	0.00122	124563	0	82	124645	0.000329

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-0.151	226	220	1.03	0.0000138	3570
Missense in Polyphen		7	5.7301	1.2216		321
Synonymous	0.721	88	97.0	0.907	0.00000648	1247
Loss of Function	-1.47	19	13.2	1.44	5.65e-7	189

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000686	0.000677
Ashkenazi Jewish	0.00	0.00
East Asian	0.000668	0.000668
Finnish	0.00	0.00
European (Non-Finnish)	0.000360	0.000354
Middle Eastern	0.000668	0.000668
South Asian	0.000297	0.000294
Other	0.000828	0.000826

dbNSFP

Source: dbNSFP

Recessive Scores

• pRec: 0.115

Haploinsufficiency Scores

• hipred: N
• hipred_score: 0.238
• ghis: 0.659

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: S
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.181

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Klhl35

Gene ontology

• Molecular function: protein binding