AutismKB 2.0

Evidence Details for IMPDH1


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Basic Information Top
Gene Symbol:IMPDH1 ( DKFZp781N0678,IMPD,IMPD1,LCA11,RP10,sWSS2608 )
Gene Full Name: IMP (inosine 5'-monophosphate) dehydrogenase 1
Band: 7q32.1
Quick LinksEntrez ID:3614; OMIM: 146690; Uniprot ID:IMDH1_HUMAN; ENSEMBL ID: ENSG00000106348; HGNC ID: 6052
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>IMPDH1|3614|nucleotide
ATGGAGGGGCCACTCACTCCACCACCGCTGCAGGGAGGCGGAGCCGCCGCTGTTCCGGAGCCCGGAGCCCGGCAACACCCGGGACACGAGACGGCGGCGCAGCGG
TACAGCGCCCGACTGCTGCAGGCCGGCTACGAGCCCGAGAGCCCTAGATTGGACCTCGCTACACACCCGACGACACCCCGTTCAGAACTATCTTCAGTGGTCTTA
CTGGCAGGTGTTGGTGTCCAGATGGATCGCCTTCGCAGGGCTAGCATGGCGGACTACCTGATCAGCGGCGGCACCGGCTACGTGCCCGAGGATGGGCTCACCGCG
CAGCAGCTCTTCGCCAGCGCCGACGGCCTCACCTACAACGACTTCCTGATTCTCCCAGGATTCATAGACTTCATAGCTGATGAGGTGGACCTGACCTCAGCCCTG
ACCCGGAAGATCACGCTGAAGACGCCACTGATCTCCTCCCCCATGGACACTGTGACAGAGGCTGACATGGCCATTGCCATGGCTCTGATGGGAGGTATTGGTTTC
ATTCACCACAACTGCACCCCAGAGTTCCAGGCCAACGAGGTGCGGAAGGTCAAGAAGTTTGAACAGGGCTTCATCACGGACCCTGTGGTGCTGAGCCCCTCGCAC
ACTGTGGGCGATGTGCTGGAGGCCAAGATGCGGCATGGCTTCTCTGGCATCCCCATCACTGAGACGGGCACCATGGGCAGCAAGCTGGTGGGCATCGTCACCTCC
CGAGACATCGACTTTCTTGCTGAGAAGGACCACACCACCCTCCTCAGTGAGGTGATGACGCCAAGGATTGAACTGGTGGTGGCTCCAGCAGGTGTGACGTTGAAA
GAGGCAAATGAGATCCTGCAGCGTAGCAAGAAAGGGAAGCTGCCTATCGTCAATGATTGCGATGAGCTGGTGGCCATCATCGCCCGCACCGACCTGAAGAAGAAC
CGAGACTACCCTCTGGCCTCCAAGGATTCCCAGAAGCAGCTGCTCTGTGGGGCAGCTGTGGGCACCCGTGAGGATGACAAATACCGTCTGGACCTGCTCACCCAG
GCGGGCGTCGACGTCATAGTCTTGGACTCGTCCCAAGGGAATTCGGTGTATCAGATCGCCATGGTGCATTACATCAAACAGAAGTACCCCCACCTCCAGGTGATT
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>IMPDH1|3614|protein
MEGPLTPPPLQGGGAAAVPEPGARQHPGHETAAQRYSARLLQAGYEPESPRLDLATHPTTPRSELSSVVLLAGVGVQMDRLRRASMADYLISGGTGYVPEDGLTA
QQLFASADGLTYNDFLILPGFIDFIADEVDLTSALTRKITLKTPLISSPMDTVTEADMAIAMALMGGIGFIHHNCTPEFQANEVRKVKKFEQGFITDPVVLSPSH
TVGDVLEAKMRHGFSGIPITETGTMGSKLVGIVTSRDIDFLAEKDHTTLLSEVMTPRIELVVAPAGVTLKEANEILQRSKKGKLPIVNDCDELVAIIARTDLKKN
RDYPLASKDSQKQLLCGAAVGTREDDKYRLDLLTQAGVDVIVLDSSQGNSVYQIAMVHYIKQKYPHLQVIGGNVVTAAQAKNLIDAGVDGLRVGMGCGSICITQE
VMACGRPQGTAVYKVAEYARRFGVPIIADGGIQTVGHVVKALALGASTVMMGSLLAATTEAPGEYFFSDGVRLKKYRGMGSLDAMEKSSSSQKRYFSEGDKVKIA
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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 (2) 1 (3) 0 (0) 0 (0) 0 (0) 0 (1) 0 (0) 0 (0) 2 (6)
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
Marshall, 2008 - SNP microarrayASD 427 238 189 - 427 500 927
Sanders, 2011 Simons Simplex Collection SNP microarray--ASD 1127 1127 - - - - -
Linkage Studies Top