AutismKB 2.0

Evidence Details for INPP5B


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Basic Information Top
Gene Symbol:INPP5B ( 5PTase,MGC65156,MGC71303 )
Gene Full Name: inositol polyphosphate-5-phosphatase, 75kDa
Band: 1p34.3
Quick LinksEntrez ID:3633; OMIM: 147264; Uniprot ID:I5P2_HUMAN; ENSEMBL ID: ENSG00000204084; HGNC ID: 6077
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>INPP5B|3633|nucleotide
ATGGACCAGTCTGTGGCAATCCAGGAGACGCTGGCTGAGGGGGAATACTGCGTCATCGCGGTGCAAGGTGTGCTGTGTGAGGGGGACAGCCGGCAGAGCCGCCTC
CTGGGACTCGTGCGCTACCGCCTGGAGCACGGCGGCCAGGAACACGCTCTCTTCCTCTATACGCACCGGAGGATGGCCATTACCGGGGACGATGTCTCTCTGGAC
CAGATAGTGCCAGTCTCGCGGGATTTTACGCTGGAAGAAGTGTCCCCAGATGGTGAACTCTACATCCTTGGCTCAGATGTGACCGTCCAGCTGGACACAGCAGAG
CTTAGCCTCGTATTCCAACTGCCCTTTGGTTCACAAACCAGGATGTTCCTCCACGAAGTTGCCAGGGCCTGTCCAGGCTTCGATTCTGCGACCCGGGATCCTGAA
TTCCTGTGGCTGTCTCGGTATAGGTGCGCAGAGCTGGAGCTGGAGATGCCAACGCCGCGCGGTTGTAACTCGGCCCTAGTTACCTGGCCAGGGTACGCGACAATT
GGCGGAGGTGGTTCTAACTTTGATGGTTTGAGACCAAATGGGAAGGGAGTGCCTATGGACCAAAGCTCCAGGGGTCAAGATAAACCAGAAAGCTTGCAACCAAGA
CAGAATAAATCCAAGTCCGAAATTACTGACATGGTTCGCTCCTCCACTATCACAGTGTCGGACAAGGCTCATATTTTATCCATGCAGAAGTTTGGACTGCGAGAT
ACAATTGTGAAATCACATCTACTACAGAAAGAAGAGGATTACACCTATATCCAGAACTTCAGGTTTTTTGCGGGAACATACAATGTAAATGGGCAGTCCCCCAAA
GAATGCCTCCGGCTGTGGCTGAGCAATGGTATCCAGGCCCCAGATGTCTATTGTGTAGGGTTCCAGGAGCTTGATCTGAGTAAGGAAGCTTTTTTCTTTCACGAT
ACCCCAAAGGAGGAAGAGTGGTTCAAAGCTGTGTCAGAGGGTCTTCATCCAGATGCCAAATATGCAAAGGTGAAGCTTATCCGACTGGTTGGGATTATGCTGCTG
TTATATGTCAAACAGGAGCATGCAGCTTATATCTCAGAAGTGGAAGCCGAGACTGTGGGGACAGGAATCATGGGGAGGATGGGCAACAAGGGAGGCGTGGCGATC
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>INPP5B|3633|protein
MDQSVAIQETLAEGEYCVIAVQGVLCEGDSRQSRLLGLVRYRLEHGGQEHALFLYTHRRMAITGDDVSLDQIVPVSRDFTLEEVSPDGELYILGSDVTVQLDTAE
LSLVFQLPFGSQTRMFLHEVARACPGFDSATRDPEFLWLSRYRCAELELEMPTPRGCNSALVTWPGYATIGGGGSNFDGLRPNGKGVPMDQSSRGQDKPESLQPR
QNKSKSEITDMVRSSTITVSDKAHILSMQKFGLRDTIVKSHLLQKEEDYTYIQNFRFFAGTYNVNGQSPKECLRLWLSNGIQAPDVYCVGFQELDLSKEAFFFHD
TPKEEEWFKAVSEGLHPDAKYAKVKLIRLVGIMLLLYVKQEHAAYISEVEAETVGTGIMGRMGNKGGVAIRFQFHNTSICVVNSHLAAHIEEYERRNQDYKDICS
RMQFCQPDPSLPPLTISNHDVILWLGDLNYRIEELDVEKVKKLIEEKDFQMLYAYDQLKIQVAAKTVFEGFTEGELTFQPTYKYDTGSDDWDTSEKCRAPAWCDR
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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 (1) 0 (0) 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
Levy, 2011 Simons Simplex Collection aCGH--ASD 915 915 - - - - -
Linkage Studies Top