KCTD11
Basic information
Region (hg38): 17:7351889-7354944
Previous symbols: [ "C17orf36" ]
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 KCTD11 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 | 11 | 12 | ||||
nonsense | 0 | |||||
start loss | 0 | |||||
frameshift | 0 | |||||
inframe indel | 0 | |||||
splice donor/acceptor (+/-2bp) | 0 | |||||
splice region | 0 | |||||
non coding | 0 | |||||
Total | 0 | 0 | 11 | 0 | 1 |
Variants in KCTD11
This is a list of pathogenic ClinVar variants found in the KCTD11 region.
You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.
Position | Type | Phenotype | Significance | ClinVar |
---|---|---|---|---|
17-7352979-C-G | not specified | Uncertain significance (May 15, 2024) | ||
17-7353006-G-A | Benign (Dec 31, 2019) | |||
17-7353075-C-G | not specified | Uncertain significance (Dec 31, 2023) | ||
17-7353132-T-C | not specified | Uncertain significance (Jul 25, 2023) | ||
17-7353162-C-T | not specified | Uncertain significance (Dec 08, 2023) | ||
17-7353243-G-T | not specified | Uncertain significance (Oct 25, 2022) | ||
17-7353317-C-A | not specified | Uncertain significance (Mar 27, 2023) | ||
17-7353348-G-T | not specified | Uncertain significance (Mar 25, 2022) | ||
17-7353349-C-T | not specified | Uncertain significance (Sep 25, 2023) | ||
17-7353355-G-A | not specified | Uncertain significance (Oct 25, 2024) | ||
17-7353367-G-C | not specified | Uncertain significance (Dec 03, 2024) | ||
17-7353388-C-A | not specified | Uncertain significance (Mar 07, 2024) | ||
17-7353486-G-T | not specified | Uncertain significance (Jun 30, 2023) | ||
17-7353501-C-T | not specified | Uncertain significance (Dec 02, 2024) | ||
17-7353504-C-T | not specified | Uncertain significance (Oct 11, 2024) | ||
17-7353513-G-C | not specified | Uncertain significance (Jul 30, 2024) | ||
17-7353535-A-T | not specified | Uncertain significance (Nov 21, 2024) | ||
17-7353587-C-G | not specified | Uncertain significance (Jun 10, 2024) | ||
17-7353589-C-T | not specified | Uncertain significance (May 23, 2023) | ||
17-7353633-C-T | not specified | Uncertain significance (Oct 06, 2024) |
GnomAD
Source:
Gene | Type | Bio Type | Transcript | Coding Exons | Length |
---|---|---|---|---|---|
KCTD11 | protein_coding | protein_coding | ENST00000333751 | 1 | 3051 |
pLI Probability LOF Intolerant | pRec Probability LOF Recessive | Individuals with no LOFs | Individuals with Homozygous LOFs | Individuals with Heterozygous LOFs | Defined | p |
---|---|---|---|---|---|---|
0.00550 | 0.732 | 0 | 0 | 0 | 0 | 0.00 |
Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible in Transcript | |
---|---|---|---|---|---|---|
Missense | 1.23 | 115 | 159 | 0.725 | 0.0000109 | 1464 |
Missense in Polyphen | 39 | 65.698 | 0.59363 | 678 | ||
Synonymous | 1.38 | 55 | 69.6 | 0.790 | 0.00000442 | 540 |
Loss of Function | 0.791 | 4 | 6.11 | 0.655 | 5.31e-7 | 46 |
LoF frequencies by population
Ethnicity | Sum of pLOFs | p |
---|---|---|
African & African-American | 0.00 | 0.00 |
Ashkenazi Jewish | 0.00 | 0.00 |
East Asian | 0.00 | 0.00 |
Finnish | 0.00 | 0.00 |
European (Non-Finnish) | 0.00 | 0.00 |
Middle Eastern | 0.00 | 0.00 |
South Asian | 0.00 | 0.00 |
Other | 0.00 | 0.00 |
dbNSFP
Source:
- Function
- FUNCTION: Plays a role as a marker and a regulator of neuronal differentiation; Up-regulated by a variety of neurogenic signals, such as retinoic acid, epidermal growth factor/EGF and NGFB/nerve growth factor. Induces apoptosis, growth arrest and the expression of cyclin-dependent kinase inhibitor CDKN1B. Plays a role as a tumor repressor and inhibits cell growth and tumorigenicity of medulloblastoma (MDB). Acts as probable substrate-specific adapter for a BCR (BTB-CUL3-RBX1) E3 ubiquitin-protein ligase complex towards HDAC1. Functions as antagonist of the Hedgehog pathway on cell proliferation and differentiation by affecting the nuclear transfer of transcription factor GLI1, thus maintaining cerebellar granule cells in undifferentiated state, this effect probably occurs via HDAC1 down-regulation, keeping GLI1 acetylated and inactive. When knock-down, Hedgehog antagonism is impaired and proliferation of granule cells is sustained. Activates the caspase cascade. {ECO:0000269|PubMed:15249678, ECO:0000269|PubMed:20081843, ECO:0000269|PubMed:21237243}.;
Recessive Scores
- pRec
- 0.104
Intolerance Scores
- loftool
- 0.276
- rvis_EVS
- 0.28
- rvis_percentile_EVS
- 71.08
Haploinsufficiency Scores
- pHI
- 0.146
- hipred
- Y
- hipred_score
- 0.645
- ghis
- 0.434
Essentials
- essential_gene_CRISPR
- N
- essential_gene_CRISPR2
- S
- essential_gene_gene_trap
- N
- gene_indispensability_pred
- E
- gene_indispensability_score
- 0.707
Gene Damage Prediction
All | Recessive | Dominant | |
---|---|---|---|
Mendelian | Medium | Medium | Medium |
Primary Immunodeficiency | Medium | Medium | Medium |
Cancer | Medium | Medium | Medium |
Mouse Genome Informatics
- Gene name
- Kctd11
- Phenotype
Gene ontology
- Biological process
- cell cycle;negative regulation of neuroblast proliferation;protein ubiquitination;regulation of growth;positive regulation of neuron differentiation;negative regulation of smoothened signaling pathway;protein homooligomerization
- Cellular component
- cytoplasm
- Molecular function
- transferase activity;identical protein binding