KCTD9

potassium channel tetramerization domain containing 9, the group of KCTD family|BTB domain containing

Basic information

Region (hg38): 8:25427847-25458476

Links

ENSG00000104756 ∙ NCBI:54793 ∙ OMIM:617265 ∙ HGNC:22401 ∙ Uniprot:Q7L273 ∙ 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 KCTD9 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the KCTD9 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						0
missense			4			4
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	4	0	0

Variants in KCTD9

This is a list of pathogenic ClinVar variants found in the KCTD9 region.

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

Position	Type	Phenotype	Significance	ClinVar
8-25429934-G-C		not specified	Uncertain significance (Aug 14, 2023)
8-25432514-G-T		not specified	Uncertain significance (Jun 17, 2024)
8-25432623-C-T		not specified	Uncertain significance (Nov 22, 2023)
8-25435436-C-T		not specified	Uncertain significance (Aug 21, 2023)
8-25435437-G-A		not specified	Uncertain significance (Nov 20, 2024)
8-25444306-C-T		not specified	Uncertain significance (Jan 07, 2022)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
KCTD9	protein_coding	protein_coding	ENST00000221200	12	30627

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.0617	0.938	125732	0	14	125746	0.0000557

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	3.60	62	208	0.297	0.0000105	2532
Missense in Polyphen		15	98.477	0.15232		1278
Synonymous	0.597	66	72.5	0.911	0.00000344	751
Loss of Function	3.35	7	25.1	0.278	0.00000164	278

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000358	0.000340
Ashkenazi Jewish	0.00	0.00
East Asian	0.00	0.00
Finnish	0.00	0.00
European (Non-Finnish)	0.0000531	0.0000527
Middle Eastern	0.00	0.00
South Asian	0.00	0.00
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Substrate-specific adapter of a BCR (BTB-CUL3-RBX1) E3 ubiquitin-protein ligase complex, which mediates the ubiquitination of target proteins, leading to their degradation by the proteasome. {ECO:0000305}.

Recessive Scores

• pRec: 0.113

Intolerance Scores

• loftool: 0.496
• rvis_EVS: -0.12
• rvis_percentile_EVS: 44.89

Haploinsufficiency Scores

• pHI: 0.108
• hipred: Y
• hipred_score: 0.639
• ghis: 0.542

Essentials

• essential_gene_CRISPR: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.471

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Kctd9

Gene ontology

• Biological process: protein ubiquitination;intracellular signal transduction;protein homooligomerization
• Molecular function: protein binding;identical protein binding;protein self-association;cullin family protein binding