AutismKB 2.0

Evidence Details for IFIH1


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Basic Information Top
Gene Symbol:IFIH1 ( Hlcd,IDDM19,MDA-5,MDA5,MGC133047 )
Gene Full Name: interferon induced with helicase C domain 1
Band: 2q24.2
Quick LinksEntrez ID:64135; OMIM: 606951; Uniprot ID:IFIH1_HUMAN; ENSEMBL ID: ENSG00000115267; HGNC ID: 18873
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>IFIH1|64135|nucleotide
ATGTCGAATGGGTATTCCACAGACGAGAATTTCCGCTATCTCATCTCGTGCTTCAGGGCCAGGGTGAAAATGTACATCCAGGTGGAGCCTGTGCTGGACTACCTG
ACCTTTCTGCCTGCAGAGGTGAAGGAGCAGATTCAGAGGACAGTCGCCACCTCCGGGAACATGCAGGCAGTTGAACTGCTGCTGAGCACCTTGGAGAAGGGAGTC
TGGCACCTTGGTTGGACTCGGGAATTCGTGGAGGCCCTCCGGAGAACCGGCAGCCCTCTGGCCGCCCGCTACATGAACCCTGAGCTCACGGACTTGCCCTCTCCA
TCGTTTGAGAACGCTCATGATGAATATCTCCAACTGCTGAACCTCCTTCAGCCCACTCTGGTGGACAAGCTTCTAGTTAGAGACGTCTTGGATAAGTGCATGGAG
GAGGAACTGTTGACAATTGAAGACAGAAACCGGATTGCTGCTGCAGAAAACAATGGAAATGAATCAGGTGTAAGAGAGCTACTAAAAAGGATTGTGCAGAAAGAA
AACTGGTTCTCTGCATTTCTGAATGTTCTTCGTCAAACAGGAAACAATGAACTTGTCCAAGAGTTAACAGGCTCTGATTGCTCAGAAAGCAATGCAGAGATTGAG
AATTTATCACAAGTTGATGGTCCTCAAGTGGAAGAGCAACTTCTTTCAACCACAGTTCAGCCAAATCTGGAGAAGGAGGTCTGGGGCATGGAGAATAACTCATCA
GAATCATCTTTTGCAGATTCTTCTGTAGTTTCAGAATCAGACACAAGTTTGGCAGAAGGAAGTGTCAGCTGCTTAGATGAAAGTCTTGGACATAACAGCAACATG
GGCAGTGATTCAGGCACCATGGGAAGTGATTCAGATGAAGAGAATGTGGCAGCAAGAGCATCCCCGGAGCCAGAACTCCAGCTCAGGCCTTACCAAATGGAAGTT
GCCCAGCCAGCCTTGGAAGGGAAGAATATCATCATCTGCCTCCCTACAGGGAGTGGAAAAACCAGAGTGGCTGTTTACATTGCCAAGGATCACTTAGACAAGAAG
AAAAAAGCATCTGAGCCTGGAAAAGTTATAGTTCTTGTCAATAAGGTACTGCTAGTTGAACAGCTCTTCCGCAAGGAGTTCCAACCATTTTTGAAGAAATGGTAT
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>IFIH1|64135|protein
MSNGYSTDENFRYLISCFRARVKMYIQVEPVLDYLTFLPAEVKEQIQRTVATSGNMQAVELLLSTLEKGVWHLGWTREFVEALRRTGSPLAARYMNPELTDLPSP
SFENAHDEYLQLLNLLQPTLVDKLLVRDVLDKCMEEELLTIEDRNRIAAAENNGNESGVRELLKRIVQKENWFSAFLNVLRQTGNNELVQELTGSDCSESNAEIE
NLSQVDGPQVEEQLLSTTVQPNLEKEVWGMENNSSESSFADSSVVSESDTSLAEGSVSCLDESLGHNSNMGSDSGTMGSDSDEENVAARASPEPELQLRPYQMEV
AQPALEGKNIIICLPTGSGKTRVAVYIAKDHLDKKKKASEPGKVIVLVNKVLLVEQLFRKEFQPFLKKWYRVIGLSGDTQLKISFPEVVKSCDIIISTAQILENS
LLNLENGEDAGVQLSDFSLIIIDECHHTNKEAVYNNIMRHYLMQKLKNNRLKKENKPVIPLPQILGLTASPGVGGATKQAKAEEHILKLCANLDAFTIKTVKENL
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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) 0 (0) 0 (1) 0 (0) 0 (0) 0 (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
Gregory, 2009 USA aCGHASD - - - - 119 54 173
Linkage Studies Top