KLHL36

kelch like family member 36, the group of Kelch like|BTB domain containing

Basic information

Region (hg38): 16:84648511-84667686

Previous symbols: [ "C16orf44" ]

Links

ENSG00000135686 ∙ NCBI:79786 ∙ ∙ HGNC:17844 ∙ Uniprot:Q8N4N3 ∙ 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 KLHL36 gene.

• not_specified (114 variants)
• not_provided (3 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the KLHL36 gene is commonly pathogenic or not. These statistics are base on transcript: NM_000024731.4. 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				4		4
missense			108	5		113
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	108	9	0

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
KLHL36	protein_coding	protein_coding	ENST00000564996	4	19162

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.807	0.193	125664	0	13	125677	0.0000517

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	1.12	377	443	0.851	0.0000329	3983
Missense in Polyphen		103	159.89	0.6442		1528
Synonymous	-2.63	261	212	1.23	0.0000174	1236
Loss of Function	3.67	4	23.0	0.174	0.00000107	238

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000184	0.000183
Ashkenazi Jewish	0.00	0.00
East Asian	0.0000555	0.0000544
Finnish	0.00	0.00
European (Non-Finnish)	0.0000453	0.0000440
Middle Eastern	0.0000555	0.0000544
South Asian	0.00	0.00
Other	0.000329	0.000326

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Probable substrate-specific adapter of an E3 ubiquitin- protein ligase complex which mediates the ubiquitination and subsequent proteasomal degradation of target proteins. {ECO:0000269|PubMed:14528312}.

Intolerance Scores

• loftool: 0.0954
• rvis_EVS: -1.68
• rvis_percentile_EVS: 2.65

Haploinsufficiency Scores

• pHI: 0.166
• hipred: Y
• hipred_score: 0.717
• ghis: 0.606

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: S
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.288

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Klhl36

Gene ontology

• Biological process: protein ubiquitination