KCTD9

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

Basic information

Region (hg38): 8:25427847-25458476

Links

ENSG00000104756NCBI:54793OMIM:617265HGNC:22401Uniprot:Q7L273AlphaFoldGenCCjaxSfariGnomADPubmedClinVar

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
clinvar
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)2618063
8-25432514-G-T not specified Uncertain significance (Jun 17, 2024)3287861
8-25432623-C-T not specified Uncertain significance (Nov 22, 2023)3113675
8-25435436-C-T not specified Uncertain significance (Aug 21, 2023)2619927
8-25444306-C-T not specified Uncertain significance (Jan 07, 2022)2270971

GnomAD

Source: gnomAD

GeneTypeBio TypeTranscript Coding Exons Length
KCTD9protein_codingprotein_codingENST00000221200 1230627
pLI Probability
LOF Intolerant
pRec Probability
LOF Recessive
Individuals with
no LOFs
Individuals with
Homozygous LOFs
Individuals with
Heterozygous LOFs
Defined p
0.06170.9381257320141257460.0000557
Z-Score Observed Expected Observed/Expected Mutation Rate Total Possible in Transcript
Missense3.60622080.2970.00001052532
Missense in Polyphen1598.4770.152321278
Synonymous0.5976672.50.9110.00000344751
Loss of Function3.35725.10.2780.00000164278

LoF frequencies by population

EthnicitySum of pLOFs p
African & African-American0.0003580.000340
Ashkenazi Jewish0.000.00
East Asian0.000.00
Finnish0.000.00
European (Non-Finnish)0.00005310.0000527
Middle Eastern0.000.00
South Asian0.000.00
Other0.000.00

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_CRISPR2
essential_gene_gene_trap
N
gene_indispensability_pred
N
gene_indispensability_score
0.471

Gene Damage Prediction

AllRecessiveDominant
MendelianMediumMediumMedium
Primary ImmunodeficiencyMediumMediumMedium
CancerMediumMediumMedium

Mouse Genome Informatics

Gene name
Kctd9
Phenotype

Gene ontology

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