KCTD9
Basic information
Region (hg38): 8:25427847-25458476
Links
Phenotypes
GenCC
Source:
ClinVar
This is a list of variants' phenotypes submitted to
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 | |||||
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) | ||
8-25444306-C-T | not specified | Uncertain significance (Jan 07, 2022) |
GnomAD
Source:
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:
- 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
All | Recessive | Dominant | |
---|---|---|---|
Mendelian | Medium | Medium | Medium |
Primary Immunodeficiency | Medium | Medium | Medium |
Cancer | Medium | Medium | Medium |
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