AutismKB 2.0

Evidence Details for IMPDH2


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Basic Information Top
Gene Symbol:IMPDH2 ( IMPD2,IMPDH-II )
Gene Full Name: IMP (inosine 5'-monophosphate) dehydrogenase 2
Band: 3p21.31
Quick LinksEntrez ID:3615; OMIM: 146691; Uniprot ID:IMDH2_HUMAN; ENSEMBL ID: ENSG00000178035; HGNC ID: 6053
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>IMPDH2|3615|nucleotide
ATGGCCGACTACCTGATTAGTGGGGGCACGTCCTACGTGCCAGACGACGGACTCACAGCACAGCAGCTCTTCAACTGCGGAGACGGCCTCACCTACAATGACTTT
CTCATTCTCCCTGGGTACATCGACTTCACTGCAGACCAGGTGGACCTGACTTCTGCTCTGACCAAGAAAATCACTCTTAAGACCCCACTGGTTTCCTCTCCCATG
GACACAGTCACAGAGGCTGGGATGGCCATAGCAATGGCGCTTACAGGCGGTATTGGCTTCATCCACCACAACTGTACACCTGAATTCCAGGCCAATGAAGTTCGG
AAAGTGAAGAAATATGAACAGGGATTCATCACAGACCCTGTGGTCCTCAGCCCCAAGGATCGCGTGCGGGATGTTTTTGAGGCCAAGGCCCGGCATGGTTTCTGC
GGTATCCCAATCACAGACACAGGCCGGATGGGGAGCCGCTTGGTGGGCATCATCTCCTCCAGGGACATTGATTTTCTCAAAGAGGAGGAACATGACTGTTTCTTG
GAAGAGATAATGACAAAGAGGGAAGACTTGGTGGTAGCCCCTGCAGGCATCACACTGAAGGAGGCAAATGAAATTCTGCAGCGCAGCAAGAAGGGAAAGTTGCCC
ATTGTAAATGAAGATGATGAGCTTGTGGCCATCATTGCCCGGACAGACCTGAAGAAGAATCGGGACTACCCACTAGCCTCCAAAGATGCCAAGAAACAGCTGCTG
TGTGGGGCAGCCATTGGCACTCATGAGGATGACAAGTATAGGCTGGACTTGCTCGCCCAGGCTGGTGTGGATGTAGTGGTTTTGGACTCTTCCCAGGGAAATTCC
ATCTTCCAGATCAATATGATCAAGTACATCAAAGACAAATACCCTAATCTCCAAGTCATTGGAGGCAATGTGGTCACTGCTGCCCAGGCCAAGAACCTCATTGAT
GCAGGTGTGGATGCCCTGCGGGTGGGCATGGGAAGTGGCTCCATCTGCATTACGCAGGAAGTGCTGGCCTGTGGGCGGCCCCAAGCAACAGCAGTGTACAAGGTG
TCAGAGTATGCACGGCGCTTTGGTGTTCCGGTCATTGCTGATGGAGGAATCCAAAATGTGGGTCATATTGCGAAAGCCTTGGCCCTTGGGGCCTCCACAGTCATG
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>IMPDH2|3615|protein
MADYLISGGTSYVPDDGLTAQQLFNCGDGLTYNDFLILPGYIDFTADQVDLTSALTKKITLKTPLVSSPMDTVTEAGMAIAMALTGGIGFIHHNCTPEFQANEVR
KVKKYEQGFITDPVVLSPKDRVRDVFEAKARHGFCGIPITDTGRMGSRLVGIISSRDIDFLKEEEHDCFLEEIMTKREDLVVAPAGITLKEANEILQRSKKGKLP
IVNEDDELVAIIARTDLKKNRDYPLASKDAKKQLLCGAAIGTHEDDKYRLDLLAQAGVDVVVLDSSQGNSIFQINMIKYIKDKYPNLQVIGGNVVTAAQAKNLID
AGVDALRVGMGSGSICITQEVLACGRPQATAVYKVSEYARRFGVPVIADGGIQNVGHIAKALALGASTVMMGSLLAATTEAPGEYFFSDGIRLKKYRGMGSLDAM
DKHLSSQNRYFSEADKIKVAQGVSGAVQDKGSIHKFVPYLIAGIQHSCQDIGAKSLTQVRAMMYSGELKFEKRTSSAQVEGGVHSLHSYEKRLF
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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 (0) 0 (0) 0 (0) 0 (0) 0 (2) 0 (0) 0 (0) 0 (0) 0 (2)
Syndromic Autism Gene Top
Genome-Wide Association Studies(By Ethnic Group) Top
CNV Studies Top
Linkage Studies Top
Low Scale Association Studies (by Ethnic Group) Top
Large Scale Expression Studies Top
NGS de novo Mutation Studies Top
Reference Case Number Family Number de novo Number Title
Jiang YH, 2013 - 32 39 Detection of clinically relevant genetic variants in autism spectrum disorder by whole-genome seque
Yuen RK, 2016 200 - 301 Genome-wide characteristics of de novo mutations in autism.
NGS Mosaic SNV Studies Top
NGS Other Studies Top
Low Scale Gene Studies Top

Contact Us if you are an author of a study regarding this gene and do not find your study in this table or find errors in the representation of your study details.

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  (e.g. CHD8)

Syndromic Genes

Non-syndromic Genes

AutismKB Statistics

  • Studies: 1,036
  • Genes: 1,379
  • CNVs/SVs: 5,420
  • SNVs/Indels: 11,669
  • de novo Mutations: 5,669
  • Mosaics: 789
  • Linkage Regions: 172
  • Paper Collected: 6/30/2018
  • Last Update: 8/26/2018