AutismKB 2.0

Evidence Details for CSNK1G1


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Basic Information Top
Gene Symbol:CSNK1G1 ( - )
Gene Full Name: casein kinase 1, gamma 1
Band: 15q22.31
Quick LinksEntrez ID:53944; OMIM: 606274; Uniprot ID:KC1G1_HUMAN; ENSEMBL ID: ENSG00000169118; HGNC ID: 2454
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>CSNK1G1|53944|nucleotide
ATGGACCATCCTAGTAGGGAAAAGGATGAAAGACAACGGACAACTAAACCCATGGCACAAAGGAGTGCACACTGCTCTCGACCATCTGGCTCCTCATCGTCCTCT
GGGGTTCTTATGGTGGGACCCAACTTCAGGGTTGGCAAGAAGATAGGATGTGGGAACTTCGGAGAGCTCAGATTAGGTAAAAATCTCTACACCAATGAATATGTA
GCAATCAAACTGGAACCAATAAAATCACGTGCTCCACAGCTTCATTTAGAGTACAGATTTTATAAACAGCTTGGCAGTGCAGGTGAAGGTCTCCCACAGGTGTAT
TACTTTGGACCATGTGGGAAATATAATGCCATGGTGCTGGAGCTCCTTGGCCCTAGCTTGGAGGACTTGTTTGACCTCTGTGACCGAACATTTACTTTGAAGACG
GTGTTAATGATAGCCATCCAGCTGCTTTCTCGAATGGAATACGTGCACTCAAAGAACCTCATTTACCGAGATGTCAAGCCAGAGAACTTCCTGATTGGTCGACAA
GGCAATAAGAAAGAGCATGTTATACACATTATAGACTTTGGACTGGCCAAGGAATACATTGACCCCGAAACCAAAAAACACATACCTTATAGGGAACACAAAAGT
TTAACTGGAACTGCAAGATATATGTCTATCAACACGCATCTTGGCAAAGAGCAAAGCCGGAGAGATGATTTGGAAGCCCTAGGCCATATGTTCATGTATTTCCTT
CGAGGCAGCCTCCCCTGGCAAGGACTCAAGGCTGACACATTAAAAGAGAGATATCAAAAAATTGGTGACACCAAAAGGAATACTCCCATTGAAGCTCTCTGTGAG
AACTTTCCAGAGGAGATGGCAACCTACCTTCGATATGTCAGGCGACTGGACTTCTTTGAAAAACCTGATTATGAGTATTTACGGACCCTCTTCACAGACCTCTTT
GAAAAGAAAGGCTACACCTTTGACTATGCCTATGATTGGGTTGGGAGACCTATTCCTACTCCAGTAGGGTCAGTTCACGTAGATTCTGGTGCATCTGCAATAACT
CGAGAAAGCCACACACATAGGGATCGGCCATCACAACAGCAGCCTCTTCGAAATCAGGTGGTTAGCTCAACCAATGGAGAGCTGAATGTTGATGATCCCACGGGA
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>CSNK1G1|53944|protein
MDHPSREKDERQRTTKPMAQRSAHCSRPSGSSSSSGVLMVGPNFRVGKKIGCGNFGELRLGKNLYTNEYVAIKLEPIKSRAPQLHLEYRFYKQLGSAGEGLPQVY
YFGPCGKYNAMVLELLGPSLEDLFDLCDRTFTLKTVLMIAIQLLSRMEYVHSKNLIYRDVKPENFLIGRQGNKKEHVIHIIDFGLAKEYIDPETKKHIPYREHKS
LTGTARYMSINTHLGKEQSRRDDLEALGHMFMYFLRGSLPWQGLKADTLKERYQKIGDTKRNTPIEALCENFPEEMATYLRYVRRLDFFEKPDYEYLRTLFTDLF
EKKGYTFDYAYDWVGRPIPTPVGSVHVDSGASAITRESHTHRDRPSQQQPLRNQVVSSTNGELNVDDPTGAHSNAPITAHAEVEVVEEAKCCCFFKRKRKKTAQR
HK
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Evidence summary Top

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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 (0) 1 (3) 0 (0) 0 (0) 0 (0) 0 (0) 0 (0) 0 (0) 0 (0) 2 (3)
Syndromic Autism Gene Top
Genome-Wide Association Studies(By Ethnic Group) Top
CNV Studies Top
Reference Source Method ADI-R ADOS Diagnosis Family Individual
Total Simplex Multiplex Control Affected Control Total
Smith, 2000 - FISHautism - - - - 1 - 1
Wassink, 2001 USA Chromosomal analysis of G-bandautism - - - - 278 - 278
Szatmari, 2007 Europe, North America SNP microarrayASD 1491 - - - - - 0
Linkage Studies Top