Evidence Details for KCNB1
Basic Information Top
| Gene Symbol: | KCNB1 ( DRK1,KV2.1,h-DRK1 ) |
|---|---|
| Gene Full Name: | potassium voltage-gated channel, Shab-related subfamily, member 1 |
| Band: | 20q13.13 |
| Quick Links | Entrez ID:3745; OMIM: 600397; Uniprot ID:KCNB1_HUMAN; ENSEMBL ID: ENSG00000158445; HGNC ID: 6231 |
| Relate to Another Database: | SFARIGene; denovo-db |
Sequences Top>KCNB1|3745|nucleotide
ATGCCGGCGGGCATGACGAAGCATGGCTCCCGCTCCACCAGCTCGCTGCCGCCCGAGCCCATGGAGATCGTGCGCAGCAAGGCGTGCTCTCGGCGGGTCCGCCTC
AACGTCGGGGGGCTGGCGCACGAGGTACTCTGGCGTACCCTGGACCGCCTGCCCCGCACGCGGCTGGGCAAGCTCCGCGACTGCAACACGCACGACTCGCTGCTC
GAGGTGTGCGATGACTACAGCCTCGACGACAACGAGTACTTCTTTGACCGCCACCCGGGCGCCTTCACCTCCATCCTCAACTTCTACCGCACTGGGCGACTGCAC
ATGATGGAGGAGATGTGCGCGCTCAGCTTCAGCCAAGAGCTCGACTACTGGGGCATCGACGAGATCTACCTGGAGTCCTGCTGCCAGGCCCGCTACCACCAGAAG
AAAGAGCAGATGAACGAGGAGCTCAAGCGTGAGGCCGAGACCCTACGGGAGCGGGAAGGCGAGGAGTTCGATAACACGTGCTGCGCAGAGAAGAGGAAAAAACTC
TGGGACCTACTGGAGAAGCCCAATTCCTCTGTGGCTGCCAAGATCCTTGCCATAATTTCCATCATGTTCATCGTCCTCTCCACCATTGCCCTGTCCCTCAACACG
CTGCCTGAGCTACAGAGCCTCGATGAGTTCGGCCAGTCCACAGACAACCCCCAGCTGGCCCACGTGGAGGCCGTGTGCATCGCATGGTTCACCATGGAGTACCTG
CTGAGGTTCCTCTCCTCGCCCAAGAAGTGGAAGTTCTTCAAGGGCCCACTCAATGCCATTGACTTGTTGGCCATTCTGCCATACTATGTCACCATTTTCCTCACC
GAATCCAACAAGAGCGTGCTGCAATTCCAGAATGTCCGCCGCGTGGTCCAGATCTTCCGCATCATGCGAATTCTCCGCATCCTTAAGCTTGCACGCCACTCCACT
GGCCTCCAGTCTCTGGGCTTCACTTTGCGGAGGAGCTACAATGAGTTGGGCTTGCTCATCCTCTTCCTTGCCATGGGCATTATGATCTTCTCCAGCCTTGTCTTC
TTTGCTGAGAAGGATGAGGACGACACCAAGTTCAAAAGCATCCCAGCCTCTTTCTGGTGGGCCACCATCACCATGACTACTGTTGGGTATGGAGACATCTACCCC
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ATGCCGGCGGGCATGACGAAGCATGGCTCCCGCTCCACCAGCTCGCTGCCGCCCGAGCCCATGGAGATCGTGCGCAGCAAGGCGTGCTCTCGGCGGGTCCGCCTC
AACGTCGGGGGGCTGGCGCACGAGGTACTCTGGCGTACCCTGGACCGCCTGCCCCGCACGCGGCTGGGCAAGCTCCGCGACTGCAACACGCACGACTCGCTGCTC
GAGGTGTGCGATGACTACAGCCTCGACGACAACGAGTACTTCTTTGACCGCCACCCGGGCGCCTTCACCTCCATCCTCAACTTCTACCGCACTGGGCGACTGCAC
ATGATGGAGGAGATGTGCGCGCTCAGCTTCAGCCAAGAGCTCGACTACTGGGGCATCGACGAGATCTACCTGGAGTCCTGCTGCCAGGCCCGCTACCACCAGAAG
AAAGAGCAGATGAACGAGGAGCTCAAGCGTGAGGCCGAGACCCTACGGGAGCGGGAAGGCGAGGAGTTCGATAACACGTGCTGCGCAGAGAAGAGGAAAAAACTC
TGGGACCTACTGGAGAAGCCCAATTCCTCTGTGGCTGCCAAGATCCTTGCCATAATTTCCATCATGTTCATCGTCCTCTCCACCATTGCCCTGTCCCTCAACACG
CTGCCTGAGCTACAGAGCCTCGATGAGTTCGGCCAGTCCACAGACAACCCCCAGCTGGCCCACGTGGAGGCCGTGTGCATCGCATGGTTCACCATGGAGTACCTG
CTGAGGTTCCTCTCCTCGCCCAAGAAGTGGAAGTTCTTCAAGGGCCCACTCAATGCCATTGACTTGTTGGCCATTCTGCCATACTATGTCACCATTTTCCTCACC
GAATCCAACAAGAGCGTGCTGCAATTCCAGAATGTCCGCCGCGTGGTCCAGATCTTCCGCATCATGCGAATTCTCCGCATCCTTAAGCTTGCACGCCACTCCACT
GGCCTCCAGTCTCTGGGCTTCACTTTGCGGAGGAGCTACAATGAGTTGGGCTTGCTCATCCTCTTCCTTGCCATGGGCATTATGATCTTCTCCAGCCTTGTCTTC
TTTGCTGAGAAGGATGAGGACGACACCAAGTTCAAAAGCATCCCAGCCTCTTTCTGGTGGGCCACCATCACCATGACTACTGTTGGGTATGGAGACATCTACCCC
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>KCNB1|3745|protein
MPAGMTKHGSRSTSSLPPEPMEIVRSKACSRRVRLNVGGLAHEVLWRTLDRLPRTRLGKLRDCNTHDSLLEVCDDYSLDDNEYFFDRHPGAFTSILNFYRTGRLH
MMEEMCALSFSQELDYWGIDEIYLESCCQARYHQKKEQMNEELKREAETLREREGEEFDNTCCAEKRKKLWDLLEKPNSSVAAKILAIISIMFIVLSTIALSLNT
LPELQSLDEFGQSTDNPQLAHVEAVCIAWFTMEYLLRFLSSPKKWKFFKGPLNAIDLLAILPYYVTIFLTESNKSVLQFQNVRRVVQIFRIMRILRILKLARHST
GLQSLGFTLRRSYNELGLLILFLAMGIMIFSSLVFFAEKDEDDTKFKSIPASFWWATITMTTVGYGDIYPKTLLGKIVGGLCCIAGVLVIALPIPIIVNNFSEFY
KEQKRQEKAIKRREALERAKRNGSIVSMNMKDAFARSIEMMDIVVEKNGENMGKKDKVQDNHLSPNKWKWTKRTLSETSSSKSFETKEQGSPEKARSSSSPQHLN
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MPAGMTKHGSRSTSSLPPEPMEIVRSKACSRRVRLNVGGLAHEVLWRTLDRLPRTRLGKLRDCNTHDSLLEVCDDYSLDDNEYFFDRHPGAFTSILNFYRTGRLH
MMEEMCALSFSQELDYWGIDEIYLESCCQARYHQKKEQMNEELKREAETLREREGEEFDNTCCAEKRKKLWDLLEKPNSSVAAKILAIISIMFIVLSTIALSLNT
LPELQSLDEFGQSTDNPQLAHVEAVCIAWFTMEYLLRFLSSPKKWKFFKGPLNAIDLLAILPYYVTIFLTESNKSVLQFQNVRRVVQIFRIMRILRILKLARHST
GLQSLGFTLRRSYNELGLLILFLAMGIMIFSSLVFFAEKDEDDTKFKSIPASFWWATITMTTVGYGDIYPKTLLGKIVGGLCCIAGVLVIALPIPIIVNNFSEFY
KEQKRQEKAIKRREALERAKRNGSIVSMNMKDAFARSIEMMDIVVEKNGENMGKKDKVQDNHLSPNKWKWTKRTLSETSSSKSFETKEQGSPEKARSSSSPQHLN
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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 | 1 (1) | 0 (0) | 0 (0) | 0 (0) | 1 (1) | 0 (1) | 0 (0) | 0 (1) | 0 (0) | 5 (4) |
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 | |||||||||||
| Ma, 2009_1 | Discovery | Illumina's Human 1M v1 Beadchip | 438 | - (-) |  |  | 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 TopLinkage 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 | |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Voineagu, 2011_1 | Unknown | 16 frontal cortex(BA9) and 13 temporal cortex(BA41 | 16 (25.00%) | | | - | autism | 16 (6.25%) |
0.898123 | Down | 17.5015 | |
| ||||||||||||
Proteomics Studies:0
| Reference | Source | Tissue | Platform | #Subjects (% Women) |
ADI-R | ADOS | Diagnosis | Normal Controls(% Women) | |
|---|---|---|---|---|---|---|---|---|---|
| No Evidence. | |||||||||
NGS de novo Mutation Studies Top| Reference | Case Number | Family Number | de novo Number | Title |
|---|---|---|---|---|
| Michaelson JJ, 2012 | - | 10 | 565 | Whole-genome sequencing in autism identifies hot spots for de novo germline mutation. |
NGS Mosaic SNV Studies TopNGS Other Studies Top| Reference | Source | Platform | ADI-R | ADOS | Diagnosis | Family | Affected | Validation Method | ||
|---|---|---|---|---|---|---|---|---|---|---|
| Total | Simplex | Multiplex | ||||||||
| Cukier HN, 2014 | - | Illumina HiSeq 2000 | | | ASD | 40 | - | - | 100 | HumanExome BeadChip or Sanger sequencing |
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.