Evidence Details for KCTD12
Basic Information Top
| Gene Symbol: | KCTD12 ( C13orf2,FLJ33073,KIAA1778,PFET1,PFETIN ) |
|---|---|
| Gene Full Name: | potassium channel tetramerisation domain containing 12 |
| Band: | 13q22.3 |
| Quick Links | Entrez ID:115207; OMIM: 610521; Uniprot ID:KCD12_HUMAN; ENSEMBL ID: ENSG00000178695; HGNC ID: 14678 |
| Relate to Another Database: | SFARIGene; denovo-db |
Sequences Top>KCTD12|115207|nucleotide
ATGGCTCTGGCGGACAGCACACGTGGATTACCCAACGGGGGCGGCGGCGGGGGCGGCAGTGGCTCCTCGTCGTCCTCCGCGGAGCCACCGCTCTTCCCCGACATC
GTGGAGCTGAACGTGGGGGGCCAGGTGTACGTGACCCGGCGCTGCACGGTGGTGTCGGTGCCCGACTCGCTGCTCTGGCGCATGTTCACGCAGCAGCAGCCGCAG
GAGCTGGCCCGGGACAGCAAAGGCCGCTTCTTTCTGGACCGGGACGGCTTCCTCTTCCGCTACATCCTGGATTACCTGCGGGACTTGCAGCTCGTGCTGCCCGAC
TACTTCCCCGAGCGCAGCCGGCTGCAGCGCGAGGCCGAGTACTTCGAGCTGCCAGAGCTCGTGCGCCGCCTCGGGGCGCCCCAGCAGCCCGGCCCGGGGCCGCCG
CCCTCGCGGCGCGGGGTGCACAAGGAGGGCTCGCTGGGTGACGAGCTGCTGCCGCTTGGCTACTCGGAGCCCGAACAGCAGGAGGGCGCCTCTGCCGGGGCGCCG
TCGCCCACGCTGGAGCTGGCTAGCCGCAGTCCGTCCGGGGGCGCGGCGGGCCCGCTGCTCACGCCGTCCCAGTCGCTGGACGGCAGCCGGCGCTCGGGCTACATC
ACCATCGGCTACCGCGGCTCCTACACCATCGGGCGGGACGCGCAGGCGGACGCCAAGTTCCGGCGAGTGGCGCGCATCACCGTTTGCGGAAAGACGTCGCTGGCC
AAGGAGGTGTTTGGGGACACCCTGAACGAAAGCCGGGACCCCGACCGTCCCCCGGAGCGCTACACCTCGCGCTATTACCTCAAGTTCAACTTCCTGGAGCAGGCC
TTCGACAAGCTGTCCGAGTCGGGCTTCCACATGGTGGCGTGCAGCTCCACGGGCACCTGCGCCTTTGCCAGCAGCACCGACCAGAGCGAGGACAAGATCTGGACC
AGCTACACCGAGTACGTCTTCTGCAGGGAGTGA
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ATGGCTCTGGCGGACAGCACACGTGGATTACCCAACGGGGGCGGCGGCGGGGGCGGCAGTGGCTCCTCGTCGTCCTCCGCGGAGCCACCGCTCTTCCCCGACATC
GTGGAGCTGAACGTGGGGGGCCAGGTGTACGTGACCCGGCGCTGCACGGTGGTGTCGGTGCCCGACTCGCTGCTCTGGCGCATGTTCACGCAGCAGCAGCCGCAG
GAGCTGGCCCGGGACAGCAAAGGCCGCTTCTTTCTGGACCGGGACGGCTTCCTCTTCCGCTACATCCTGGATTACCTGCGGGACTTGCAGCTCGTGCTGCCCGAC
TACTTCCCCGAGCGCAGCCGGCTGCAGCGCGAGGCCGAGTACTTCGAGCTGCCAGAGCTCGTGCGCCGCCTCGGGGCGCCCCAGCAGCCCGGCCCGGGGCCGCCG
CCCTCGCGGCGCGGGGTGCACAAGGAGGGCTCGCTGGGTGACGAGCTGCTGCCGCTTGGCTACTCGGAGCCCGAACAGCAGGAGGGCGCCTCTGCCGGGGCGCCG
TCGCCCACGCTGGAGCTGGCTAGCCGCAGTCCGTCCGGGGGCGCGGCGGGCCCGCTGCTCACGCCGTCCCAGTCGCTGGACGGCAGCCGGCGCTCGGGCTACATC
ACCATCGGCTACCGCGGCTCCTACACCATCGGGCGGGACGCGCAGGCGGACGCCAAGTTCCGGCGAGTGGCGCGCATCACCGTTTGCGGAAAGACGTCGCTGGCC
AAGGAGGTGTTTGGGGACACCCTGAACGAAAGCCGGGACCCCGACCGTCCCCCGGAGCGCTACACCTCGCGCTATTACCTCAAGTTCAACTTCCTGGAGCAGGCC
TTCGACAAGCTGTCCGAGTCGGGCTTCCACATGGTGGCGTGCAGCTCCACGGGCACCTGCGCCTTTGCCAGCAGCACCGACCAGAGCGAGGACAAGATCTGGACC
AGCTACACCGAGTACGTCTTCTGCAGGGAGTGA
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>KCTD12|115207|protein
MALADSTRGLPNGGGGGGGSGSSSSSAEPPLFPDIVELNVGGQVYVTRRCTVVSVPDSLLWRMFTQQQPQELARDSKGRFFLDRDGFLFRYILDYLRDLQLVLPD
YFPERSRLQREAEYFELPELVRRLGAPQQPGPGPPPSRRGVHKEGSLGDELLPLGYSEPEQQEGASAGAPSPTLELASRSPSGGAAGPLLTPSQSLDGSRRSGYI
TIGYRGSYTIGRDAQADAKFRRVARITVCGKTSLAKEVFGDTLNESRDPDRPPERYTSRYYLKFNFLEQAFDKLSESGFHMVACSSTGTCAFASSTDQSEDKIWT
SYTEYVFCRE
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MALADSTRGLPNGGGGGGGSGSSSSSAEPPLFPDIVELNVGGQVYVTRRCTVVSVPDSLLWRMFTQQQPQELARDSKGRFFLDRDGFLFRYILDYLRDLQLVLPD
YFPERSRLQREAEYFELPELVRRLGAPQQPGPGPPPSRRGVHKEGSLGDELLPLGYSEPEQQEGASAGAPSPTLELASRSPSGGAAGPLLTPSQSLDGSRRSGYI
TIGYRGSYTIGRDAQADAKFRRVARITVCGKTSLAKEVFGDTLNESRDPDRPPERYTSRYYLKFNFLEQAFDKLSESGFHMVACSSTGTCAFASSTDQSEDKIWT
SYTEYVFCRE
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Evidence summary TopClick the link of the category-specific score to view different category of evidences. The categories without any evidences are hidden by default.
| Evidences | Syndromic Gene | GWAS | CNV | Linkage | Association | Expression | NGS de novo | NGS Mosaic | NGS Other | Low-Scale Gene Studies | Total |
|---|---|---|---|---|---|---|---|---|---|---|---|
| Score (No. of Studies) | No | 0 (1) | 1 (1) | 0 (0) | 0 (0) | 1 (1) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 3 (3) |
Syndromic Autism Gene TopGenome-Wide Association Studies (By Ethnic Group) Top Family Based Association Studies: 1
| Reference | Stage | Platform | #Families | Affecteds | Result | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|
| #Subjects (% Women) |
ADI-R | ADOS | Diagnosis | Age (range) |
IQ (range) |
||||||
| CAUCASIAN | |||||||||||
| Hussman, 2011_1 | Discovery | Illumina Infinium Human 1 M beadship | 597 | - (-) |  |  | ASD | - - |
- - | ||
Case Control Based Association Studies: 0
| Reference | Stage | Platform | ASD Cases | Normal Controls | Result | |||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| #Subjects (% Women) |
ADI-R | ADOS | Diagnosis | Age (range) |
IQ | #Subjects (% Women) |
Age (range) |
|||||
| No Evidence. | ||||||||||||
CNV Studies Top| Reference | Source | Method | ADI-R | ADOS | Diagnosis | Family | Individual | |||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Total | Simplex | Multiplex | Control | Affected | Control | Total | ||||||
| Steele, 2001 | - | Chromosomal analysis of G-band | | | autism | - | - | - | - | 1 | - | 1 |
Linkage Studies TopLow Scale Association Studies (by Ethnic Group) TopLarge Scale Expression Studies Top Microarray Studies: 1
| Reference | Source | Tissue | #Subjects (% Women) |
ADI-R | ADOS | Endo- pheno | Diagnosis | Normal Controls (% Women) |
Fold Change | Up/ Down | P/Q value | |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Hu, 2009_1 | mixed | lymphoblastoid cell lines | 21 (-) | | | autism with nonaffected sib pairs | autism | 17 (-) |
0.8 | Down | - | |
| ||||||||||||
Proteomics Studies:0
| Reference | Source | Tissue | Platform | #Subjects (% Women) |
ADI-R | ADOS | Diagnosis | Normal Controls(% Women) | |
|---|---|---|---|---|---|---|---|---|---|
| No Evidence. | |||||||||
NGS de novo Mutation Studies TopNGS Mosaic SNV Studies TopNGS Other Studies Top Low Scale Gene Studies TopContact Us if you are an author of a study regarding this gene and do not find your study in this table or find errors in the representation of your study details.