AutismKB 2.0

Evidence Details for CDS1


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Basic Information Top
Gene Symbol:CDS1 ( CDS )
Gene Full Name: CDP-diacylglycerol synthase (phosphatidate cytidylyltransferase) 1
Band: 4q21.23
Quick LinksEntrez ID:1040; OMIM: 603548; Uniprot ID:CDS1_HUMAN; ENSEMBL ID: ENSG00000163624; HGNC ID: 1800
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>CDS1|1040|nucleotide
ATGTTGGAGCTGAGGCACCGGGGAAGCTGCCCCGGCCCCAGGGAAGCGGTGTCGCCGCCACACCGCGAGGGAGAGGCGGCCGGCGGCGACCACGAAACCGAGAGC
ACCAGCGACAAAGAAACAGATATTGATGACAGATATGGAGATTTGGATTCCAGAACAGATTCTGATATTCCGGAAATTCCACCATCCTCAGATAGAACCCCTGAG
ATTCTCAAAAAAGCTCTATCTGGTTTATCTTCAAGGTGGAAAAACTGGTGGATACGTGGAATTCTCACTCTAACTATGATCTCGTTGTTTTTCCTGATCATCTAT
ATGGGATCCTTCATGCTGATGCTTCTTGTTCTGGGCATCCAAGTGAAATGCTTCCATGAAATTATCACTATAGGTTATAGAGTCTATCATTCTTATGATCTACCA
TGGTTTAGAACACTAAGTTGGTACTTTCTATTGTGTGTAAACTACTTTTTCTATGGAGAGACTGTAGCTGATTATTTTGCTACATTTGTTCAAAGAGAAGAACAA
CTTCAGTTCCTCATTCGCTACCATAGATTTATATCATTTGCCCTCTATCTGGCAGGTTTCTGCATGTTTGTACTGAGTTTGGTGAAGAAACATTATCGTCTGCAG
TTTTATATGTTCGCATGGACTCATGTCACTTTACTGATAACTGTCACTCAGTCACACCTTGTCATCCAAAATCTGTTTGAAGGCATGATATGGTTCCTTGTTCCA
ATATCAAGTGTTATCTGCAATGACATAACTGCTTACCTTTTTGGATTTTTTTTTGGGAGAACTCCATTAATTAAGTTGTCTCCTAAAAAGACTTGGGAAGGATTC
ATTGGTGGTTTCTTTTCCACAGTTGTGTTTGGATTCATTGCTGCCTATGTGTTATCCAAATACCAGTACTTTGTCTGCCCAGTGGAATACCGAAGTGATGTAAAC
TCCTTCGTGACAGAATGTGAGCCCTCAGAACTTTTCCAGCTTCAGACTTACTCACTTCCACCCTTTCTAAAGGCAGTCTTGAGACAGGAAAGAGTGAGCTTGTAC
CCTTTCCAGATCCACAGCATTGCACTGTCAACCTTTGCATCTTTAATTGGCCCATTTGGAGGCTTCTTTGCTAGTGGATTCAAAAGAGCCTTCAAAATCAAGGAT
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>CDS1|1040|protein
MLELRHRGSCPGPREAVSPPHREGEAAGGDHETESTSDKETDIDDRYGDLDSRTDSDIPEIPPSSDRTPEILKKALSGLSSRWKNWWIRGILTLTMISLFFLIIY
MGSFMLMLLVLGIQVKCFHEIITIGYRVYHSYDLPWFRTLSWYFLLCVNYFFYGETVADYFATFVQREEQLQFLIRYHRFISFALYLAGFCMFVLSLVKKHYRLQ
FYMFAWTHVTLLITVTQSHLVIQNLFEGMIWFLVPISSVICNDITAYLFGFFFGRTPLIKLSPKKTWEGFIGGFFSTVVFGFIAAYVLSKYQYFVCPVEYRSDVN
SFVTECEPSELFQLQTYSLPPFLKAVLRQERVSLYPFQIHSIALSTFASLIGPFGGFFASGFKRAFKIKDFANTIPGHGGIMDRFDCQYLMATFVHVYITSFIRG
PNPSKVLQQLLVLQPEQQLNIYKTLKTHLIEKGILQPTLKV
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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) 0 (1) 1 (1) 0 (0) 1 (1) 0 (1) 0 (0) 0 (0) 0 (0) 3 (4)
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
Jacquemont, 2006 France aCGHASD - - - - 29 - 29
Linkage Studies Top