AutismKB 2.0

Evidence Details for ATIC


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Basic Information Top
Gene Symbol:ATIC ( AICAR,AICARFT,FLJ93545,IMPCHASE,PURH )
Gene Full Name: 5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase
Band: 2q35
Quick LinksEntrez ID:471; OMIM: 601731; Uniprot ID:PUR9_HUMAN; ENSEMBL ID: ENSG00000138363; HGNC ID: 794
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>ATIC|471|nucleotide
ATGGCTCCCGGCCAGCTCGCCTTATTTAGTGTCTCTGACAAAACCGGCCTTGTGGAATTTGCAAGAAACCTGACCGCTCTTGGTTTGAATCTGGTCGCTTCCGGA
GGGACTGCAAAAGCTCTCAGGGATGCTGGTCTGGCAGTCAGAGATGTCTCTGAGTTGACGGGATTTCCTGAAATGTTGGGGGGACGTGTGAAAACTTTGCATCCT
GCAGTCCATGCTGGAATCCTAGCTCGTAATATTCCAGAAGATAATGCTGACATGGCCAGACTTGATTTCAATCTTATAAGAGTTGTTGCCTGCAATCTCTATCCC
TTTGTAAAGACAGTGGCTTCTCCAGGTGTAACTGTTGAGGAGGCTGTGGAGCAAATTGACATTGGTGGAGTAACCTTACTGAGAGCTGCAGCCAAAAACCACGCT
CGAGTGACAGTGGTGTGTGAACCAGAGGACTATGTGGTGGTGTCCACGGAGATGCAGAGCTCCGAGAGTAAGGACACCTCCTTGGAGACTAGACGCCAGTTAGCC
TTGAAGGCATTCACTCATACGGCACAATATGATGAAGCAATTTCAGATTATTTCAGGAAACAGTACAGCAAAGGCGTATCTCAGATGCCCTTGAGATATGGAATG
AACCCACATCAGACCCCTGCCCAGCTGTACACACTGCAGCCCAAGCTTCCCATCACAGTTCTAAATGGAGCCCCTGGATTTATAAACTTGTGCGATGCTTTGAAC
GCCTGGCAGCTGGTGAAGGAACTCAAGGAGGCTTTAGGTATTCCAGCCGCTGCCTCTTTCAAACATGTCAGCCCAGCAGGTGCTGCTGTTGGAATTCCACTCAGT
GAAGATGAGGCCAAAGTCTGCATGGTTTATGATCTCTATAAAACCCTCACACCCATCTCAGCGGCATATGCAAGAGCAAGAGGGGCTGATAGGATGTCTTCATTT
GGTGATTTTGTTGCATTGTCCGATGTTTGTGATGTACCAACTGCAAAAATTATTTCCAGAGAAGTATCTGATGGTATAATTGCCCCAGGATATGAAGAAGAAGCC
TTGACAATACTTTCCAAAAAGAAAAATGGAAACTATTGTGTCCTTCAGATGGACCAATCTTACAAACCAGATGAAAATGAAGTTCGAACTCTCTTTGGTCTTCAT
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>ATIC|471|protein
MAPGQLALFSVSDKTGLVEFARNLTALGLNLVASGGTAKALRDAGLAVRDVSELTGFPEMLGGRVKTLHPAVHAGILARNIPEDNADMARLDFNLIRVVACNLYP
FVKTVASPGVTVEEAVEQIDIGGVTLLRAAAKNHARVTVVCEPEDYVVVSTEMQSSESKDTSLETRRQLALKAFTHTAQYDEAISDYFRKQYSKGVSQMPLRYGM
NPHQTPAQLYTLQPKLPITVLNGAPGFINLCDALNAWQLVKELKEALGIPAAASFKHVSPAGAAVGIPLSEDEAKVCMVYDLYKTLTPISAAYARARGADRMSSF
GDFVALSDVCDVPTAKIISREVSDGIIAPGYEEEALTILSKKKNGNYCVLQMDQSYKPDENEVRTLFGLHLSQKRNNGVVDKSLFSNVVTKNKDLPESALRDLIV
ATIAVKYTQSNSVCYAKNGQVIGIGAGQQSRIHCTRLAGDKANYWWLRHHPQVLSMKFKTGVKRAEISNAIDQYVTGTIGEDEDLIKWKALFEEVPELLTEAEKK
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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) 0 (0) 0 (0) 0 (0) 1 (1) 0 (0) 0 (0) 0 (0) 10 (2)
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
Pescucci, 2003 - STS mappingautism - - - - 1 - 1
Linkage Studies Top