AutismKB 2.0

Evidence Details for ITPKB


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Basic Information Top
Gene Symbol:ITPKB ( IP3-3KB,IP3K,IP3K-B,IP3KB,PIG37 )
Gene Full Name: inositol 1,4,5-trisphosphate 3-kinase B
Band: 1q42.12
Quick LinksEntrez ID:3707; OMIM: 147522; Uniprot ID:IP3KB_HUMAN; ENSEMBL ID: ENSG00000143772; HGNC ID: 6179
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>ITPKB|3707|nucleotide
ATGGCTGTGTACTGCTATGCGCTCAATAGCCTGGTGATCATGAATAGCGCCAACGAGATGAAGAGCGGCGGCGGCCCGGGGCCCAGTGGCAGCGAGACGCCCCCG
CCCCCGAGGAGGGCAGTGCTGAGCCCCGGCAGCGTTTTCAGCCCCGGGAGAGGCGCCTCTTTCCTCTTCCCCCCAGCCGAGTCGCTGTCCCCCGAGGAGCCCCGG
AGCCCCGGGGGCTGGCGGAGCGGCCGGCGCAGGCTGAATAGTAGCAGCGGCAGTGGCAGCGGCAGCAGCGGCAGTAGCGTGAGCAGCCCAAGTTGGGCTGGTCGC
CTGCGAGGGGACCGGCAGCAGGTGGTGGCAGCCGGTACCCTCTCCCCGCCAGGGCCGGAGGAGGCCAAGAGGAAGCTGCGGATCTTGCAGCGCGAGTTGCAGAAC
GTGCAGGTGAACCAGAAAGTGGGCATGTTTGAGGCGCACATCCAGGCACAGAGCTCCGCCATTCAAGCGCCCCGCAGCCCGCGTTTGGGCAGGGCTCGCTCGCCC
TCCCCGTGCCCCTTCCGCAGCAGCAGTCAGCCCCCTGGAAGGGTCCTGGTTCAGGGCGCCCGGAGCGAGGAACGGAGGACAAAGTCCTGGGGGGAGCAATGTCCA
GAGACTTCAGGAACCGACTCCGGGAGGAAAGGAGGGCCCAGCCTATGCTCCTCGCAGGTGAAGAAAGGAATGCCACCTCTTCCCGGCCGGGCTGCCCCTACAGGA
TCAGAGGCTCAGGGTCCATCCGCTTTTGTAAGGATGGAGAAGGGTATCCCTGCCAGTCCCCGCTGTGGCTCACCCACAGCTATGGAAATTGACAAAAGGGGCTCT
CCTACCCCGGGAACTCGGAGCTGCCTAGCTCCCTCATTGGGGCTGTTCGGAGCTAGCTTAACGATGGCCACGGAAGTGGCAGCGAGAGTTACATCCACTGGGCCA
CACCGTCCACAGGATCTTGCCCTCACTGAGCCGTCTGGGAGAGCCCGTGAGCTTGAGGACCTGCAGCCCCCAGAGGCCCTGGTGGAGAGGCAGGGGCAGTTTCTG
GGCAGTGAGACAAGCCCAGCCCCAGAAAGGGGCGGGCCCCGCGATGGAGAACCCCCTGGGAAGATGGGGAAAGGATATCTGCCCTGTGGCATGCCGGGCTCTGGG
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>ITPKB|3707|protein
MAVYCYALNSLVIMNSANEMKSGGGPGPSGSETPPPPRRAVLSPGSVFSPGRGASFLFPPAESLSPEEPRSPGGWRSGRRRLNSSSGSGSGSSGSSVSSPSWAGR
LRGDRQQVVAAGTLSPPGPEEAKRKLRILQRELQNVQVNQKVGMFEAHIQAQSSAIQAPRSPRLGRARSPSPCPFRSSSQPPGRVLVQGARSEERRTKSWGEQCP
ETSGTDSGRKGGPSLCSSQVKKGMPPLPGRAAPTGSEAQGPSAFVRMEKGIPASPRCGSPTAMEIDKRGSPTPGTRSCLAPSLGLFGASLTMATEVAARVTSTGP
HRPQDLALTEPSGRARELEDLQPPEALVERQGQFLGSETSPAPERGGPRDGEPPGKMGKGYLPCGMPGSGEPEVGKRPEETTVSVQSAESSDSLSWSRLPRALAS
VGPEEARSGAPVGGGRWQLSDRVEGGSPTLGLLGGSPSAQPGTGNVEAGIPSGRMLEPLPCWDAAKDLKEPQCPPGDRVGVQPGNSRVWQGTMEKAGLAWTRGTG
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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 (1) 1 (1) 0 (0) 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
Pinto, 2010 - SNP microarray, qPCRASD - - - - 996 1287 2283
Linkage Studies Top