Evidence Details for KCNG1
Basic Information Top
Gene Symbol: | KCNG1 ( K13,KCNG,KV6.1,MGC12878,kH2 ) |
---|---|
Gene Full Name: | potassium voltage-gated channel, subfamily G, member 1 |
Band: | 20q13.13 |
Quick Links | Entrez ID:3755; OMIM: 603788; Uniprot ID:KCNG1_HUMAN; ENSEMBL ID: ENSG00000026559; HGNC ID: 6248 |
Relate to Another Database: | SFARIGene; denovo-db |
Sequences Top
>KCNG1|3755|nucleotide
ATGACCCTCTTACCGGGAGACAATTCTGACTACGACTACAGCGCGCTGAGCTGCACCTCGGACGCCTCCTTCCACCCGGCCTTCCTCCCGCAGCGCCAGGCCATC
AAGGGCGCGTTCTACCGCCGGGCGCAGCGGCTGCGGCCGCAGGATGAGCCCCGCCAGGGCTGTCAGCCCGAGGACCGCCGCCGTCGGATCATCATCAACGTAGGC
GGCATCAAGTACTCGCTGCCCTGGACCACGCTGGACGAGTTCCCGCTGACGCGCCTGGGCCAGCTCAAGGCCTGCACCAACTTCGACGACATCCTCAACGTGTGC
GATGACTACGACGTCACCTGCAACGAGTTCTTCTTCGACCGCAACCCGGGGGCCTTCGGCACTATCCTGACCTTCCTGCGCGCGGGCAAGCTGCGGCTGCTGCGC
GAGATGTGCGCGCTGTCCTTCCAGGAGGAGCTGCTGTACTGGGGCATCGCGGAGGACCACCTGGACGGCTGCTGCAAGCGCCGCTACCTGCAGAAGATTGAGGAG
TTCGCGGAGATGGTGGAGCGGGAGGAAGAGGACGACGCGCTGGACAGCGAGGGCCGCGACAGCGAGGGCCCGGCCGAGGGCGAGGGCCGCCTGGGGCGCTGCATG
CGGCGACTGCGCGACATGGTGGAGAGGCCGCACTCGGGGCTGCCTGGCAAGGTGTTCGCCTGCCTGTCGGTGCTCTTCGTGACCGTCACCGCCGTCAACCTCTCC
GTCAGCACCTTGCCCAGCCTGAGGGAGGAGGAGGAGCAGGGCCACTGTTCCCAGATGTGCCACAACGTCTTCATCGTGGAGTCGGTGTGCGTGGGCTGGTTCTCC
CTGGAGTTCCTCCTGCGGCTCATTCAGGCGCCCAGCAAGTTCGCCTTCCTGCGGAGCCCGCTGACGCTGATCGACCTGGTGGCCATCCTGCCCTACTACATCACG
CTGCTGGTGGACGGCGCCGCCGCAGGCCGTCGCAAGCCCGGCGCGGGCAACAGCTACCTGGACAAGGTGGGGCTGGTGCTGCGCGTGCTGCGGGCGCTGCGCATC
CTGTACGTGATGCGCCTGGCGCGCCACTCCCTGGGGCTGCAGACGCTGGGGCTCACGGCCCGCCGCTGCACCCGCGAGTTCGGGCTCCTGCTGCTCTTCCTCTGC
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ATGACCCTCTTACCGGGAGACAATTCTGACTACGACTACAGCGCGCTGAGCTGCACCTCGGACGCCTCCTTCCACCCGGCCTTCCTCCCGCAGCGCCAGGCCATC
AAGGGCGCGTTCTACCGCCGGGCGCAGCGGCTGCGGCCGCAGGATGAGCCCCGCCAGGGCTGTCAGCCCGAGGACCGCCGCCGTCGGATCATCATCAACGTAGGC
GGCATCAAGTACTCGCTGCCCTGGACCACGCTGGACGAGTTCCCGCTGACGCGCCTGGGCCAGCTCAAGGCCTGCACCAACTTCGACGACATCCTCAACGTGTGC
GATGACTACGACGTCACCTGCAACGAGTTCTTCTTCGACCGCAACCCGGGGGCCTTCGGCACTATCCTGACCTTCCTGCGCGCGGGCAAGCTGCGGCTGCTGCGC
GAGATGTGCGCGCTGTCCTTCCAGGAGGAGCTGCTGTACTGGGGCATCGCGGAGGACCACCTGGACGGCTGCTGCAAGCGCCGCTACCTGCAGAAGATTGAGGAG
TTCGCGGAGATGGTGGAGCGGGAGGAAGAGGACGACGCGCTGGACAGCGAGGGCCGCGACAGCGAGGGCCCGGCCGAGGGCGAGGGCCGCCTGGGGCGCTGCATG
CGGCGACTGCGCGACATGGTGGAGAGGCCGCACTCGGGGCTGCCTGGCAAGGTGTTCGCCTGCCTGTCGGTGCTCTTCGTGACCGTCACCGCCGTCAACCTCTCC
GTCAGCACCTTGCCCAGCCTGAGGGAGGAGGAGGAGCAGGGCCACTGTTCCCAGATGTGCCACAACGTCTTCATCGTGGAGTCGGTGTGCGTGGGCTGGTTCTCC
CTGGAGTTCCTCCTGCGGCTCATTCAGGCGCCCAGCAAGTTCGCCTTCCTGCGGAGCCCGCTGACGCTGATCGACCTGGTGGCCATCCTGCCCTACTACATCACG
CTGCTGGTGGACGGCGCCGCCGCAGGCCGTCGCAAGCCCGGCGCGGGCAACAGCTACCTGGACAAGGTGGGGCTGGTGCTGCGCGTGCTGCGGGCGCTGCGCATC
CTGTACGTGATGCGCCTGGCGCGCCACTCCCTGGGGCTGCAGACGCTGGGGCTCACGGCCCGCCGCTGCACCCGCGAGTTCGGGCTCCTGCTGCTCTTCCTCTGC
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>KCNG1|3755|protein
MTLLPGDNSDYDYSALSCTSDASFHPAFLPQRQAIKGAFYRRAQRLRPQDEPRQGCQPEDRRRRIIINVGGIKYSLPWTTLDEFPLTRLGQLKACTNFDDILNVC
DDYDVTCNEFFFDRNPGAFGTILTFLRAGKLRLLREMCALSFQEELLYWGIAEDHLDGCCKRRYLQKIEEFAEMVEREEEDDALDSEGRDSEGPAEGEGRLGRCM
RRLRDMVERPHSGLPGKVFACLSVLFVTVTAVNLSVSTLPSLREEEEQGHCSQMCHNVFIVESVCVGWFSLEFLLRLIQAPSKFAFLRSPLTLIDLVAILPYYIT
LLVDGAAAGRRKPGAGNSYLDKVGLVLRVLRALRILYVMRLARHSLGLQTLGLTARRCTREFGLLLLFLCVAIALFAPLLYVIENEMADSPEFTSIPACYWWAVI
TMTTVGYGDMVPRSTPGQVVALSSILSGILLMAFPVTSIFHTFSRSYLELKQEQERVMFRRAQFLIKTKSQLSVSQDSDILFGSASSDTRDNN
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MTLLPGDNSDYDYSALSCTSDASFHPAFLPQRQAIKGAFYRRAQRLRPQDEPRQGCQPEDRRRRIIINVGGIKYSLPWTTLDEFPLTRLGQLKACTNFDDILNVC
DDYDVTCNEFFFDRNPGAFGTILTFLRAGKLRLLREMCALSFQEELLYWGIAEDHLDGCCKRRYLQKIEEFAEMVEREEEDDALDSEGRDSEGPAEGEGRLGRCM
RRLRDMVERPHSGLPGKVFACLSVLFVTVTAVNLSVSTLPSLREEEEQGHCSQMCHNVFIVESVCVGWFSLEFLLRLIQAPSKFAFLRSPLTLIDLVAILPYYIT
LLVDGAAAGRRKPGAGNSYLDKVGLVLRVLRALRILYVMRLARHSLGLQTLGLTARRCTREFGLLLLFLCVAIALFAPLLYVIENEMADSPEFTSIPACYWWAVI
TMTTVGYGDMVPRSTPGQVVALSSILSGILLMAFPVTSIFHTFSRSYLELKQEQERVMFRRAQFLIKTKSQLSVSQDSDILFGSASSDTRDNN
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Evidence summary Top
Click 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) | 0 (0) | 0 (0) | 0 (0) | 2 (2) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 2 (3) |
Syndromic Autism Gene Top
Genome-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
Linkage Studies Top
Low Scale Association Studies (by Ethnic Group) Top
Large Scale Expression Studies Top
Microarray Studies: 2
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%) |
1.37011 | Up | 1.1752 | |||
| ||||||||||||
Voineagu, 2011_2 | Unknown | frontal, BA44/45 | 10 (0.00%) | - | autism | 6 (0.00%) |
1.72551 | Up | 0.00743325 | |||
|
Proteomics Studies:0
Reference | Source | Tissue | Platform | #Subjects (% Women) |
ADI-R | ADOS | Diagnosis | Normal Controls(% Women) | |
---|---|---|---|---|---|---|---|---|---|
No Evidence. |
NGS de novo Mutation Studies Top
NGS Mosaic SNV Studies Top
NGS Other Studies Top
Low Scale Gene Studies Top
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