AutismKB 2.0

Evidence Details for INPP5D


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Basic Information Top
Gene Symbol:INPP5D ( MGC104855,MGC142140,MGC142142,SHIP,SHIP1,SIP-145,hp51CN )
Gene Full Name: inositol polyphosphate-5-phosphatase, 145kDa
Band: 2q37.1
Quick LinksEntrez ID:3635; OMIM: 601582; Uniprot ID:SHIP1_HUMAN; ENSEMBL ID: ENSG00000168918; HGNC ID: 6079
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>INPP5D|3635|nucleotide
ATGGTCCCCTGCTGGAACCATGGCAACATCACCCGCTCCAAGGCGGAGGAGCTGCTTTCCAGGACAGGCAAGGACGGGAGCTTCCTCGTGCGTGCCAGCGAGTCC
ATCTCCCGGGCATACGCGCTCTGCGTGCTGTATCGGAATTGCGTTTACACTTACAGAATTCTGCCCAATGAAGATGATAAATTCACTGTTCAGGCATCCGAAGGC
GTCTCCATGAGGTTCTTCACCAAGCTGGACCAGCTCATCGAGTTTTACAAGAAGGAAAACATGGGGCTGGTGACCCATCTGCAATACCCTGTGCCGCTGGAGGAA
GAGGACACAGGCGACGACCCTGAGGAGGACACAGTAGAAAGTGTCGTGTCTCCACCCGAGCTGCCCCCAAGAAACATCCCGCTGACTGCCAGCTCCTGTGAGGCC
AAGGAGGTTCCTTTTTCAAACGAGAATCCCCGAGCGACCGAGACCAGCCGGCCGAGCCTCTCCGAGACATTGTTCCAGCGACTGCAAAGCATGGACACCAGTGGG
CTTCCAGAAGAGCATCTTAAGGCCATCCAAGATTATTTAAGCACTCAGCTCGCCCAGGACTCTGAATTTGTGAAGACAGGGTCCAGCAGTCTTCCTCACCTGAAG
AAACTGACCACACTGCTCTGCAAGGAGCTCTATGGAGAAGTCATCCGGACCCTCCCATCCCTGGAGTCTCTGCAGAGGTTATTTGACCAGCAGCTCTCCCCGGGC
CTCCGTCCACGTCCTCAGGTTCCTGGTGAGGCCAATCCCATCAACATGGTGTCCAAGCTCAGCCAACTGACAAGCCTGTTGTCATCCATTGAAGACAAGGTCAAG
GCCTTGCTGCACGAGGGTCCTGAGTCTCCGCACCGGCCCTCCCTTATCCCTCCAGTCACCTTTGAGGTGAAGGCAGAGTCTCTGGGGATTCCTCAGAAAATGCAG
CTCAAAGTCGACGTTGAGTCTGGGAAACTGATCATTAAGAAGTCCAAGGATGGTTCTGAGGACAAGTTCTACAGCCACAAGAAAATCCTGCAGCTCATTAAGTCA
CAGAAATTTCTGAATAAGTTGGTGATCTTGGTGGAAACAGAGAAGGAGAAGATCCTGCGGAAGGAATATGTTTTTGCTGACTCCAAAAAGAGAGAAGGCTTCTGC
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>INPP5D|3635|protein
MVPCWNHGNITRSKAEELLSRTGKDGSFLVRASESISRAYALCVLYRNCVYTYRILPNEDDKFTVQASEGVSMRFFTKLDQLIEFYKKENMGLVTHLQYPVPLEE
EDTGDDPEEDTVESVVSPPELPPRNIPLTASSCEAKEVPFSNENPRATETSRPSLSETLFQRLQSMDTSGLPEEHLKAIQDYLSTQLAQDSEFVKTGSSSLPHLK
KLTTLLCKELYGEVIRTLPSLESLQRLFDQQLSPGLRPRPQVPGEANPINMVSKLSQLTSLLSSIEDKVKALLHEGPESPHRPSLIPPVTFEVKAESLGIPQKMQ
LKVDVESGKLIIKKSKDGSEDKFYSHKKILQLIKSQKFLNKLVILVETEKEKILRKEYVFADSKKREGFCQLLQQMKNKHSEQPEPDMITIFIGTWNMGNAPPPK
KITSWFLSKGQGKTRDDSADYIPHDIYVIGTQEDPLSEKEWLEILKHSLQEITSVTFKTVAIHTLWNIRIVVLAKPEHENRISHICTDNVKTGIANTLGNKGAVG
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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 (1) 0 (0) 0 (0) 0 (0) 1 (1) 0 (0) 0 (0) 0 (0) 0 (0) 1 (2)
Syndromic Autism Gene Top
Genome-Wide Association Studies (By Ethnic Group) Top
Family Based Association Studies: 1
Reference Stage Platform #Families Affecteds Result
#Subjects
(% Women)		 ADI-R ADOS Diagnosis Age
(range)		 IQ
(range)
CAUCASIAN
Hussman, 2011_1 Discovery Illumina Infinium Human 1 M beadship 597 -
(-)		ASD -
-		 -
-
Case Control Based Association Studies: 0
Reference Stage Platform ASD Cases Normal Controls Result
#Subjects
(% Women)		 ADI-R ADOS Diagnosis Age
(range)		 IQ #Subjects
(% Women)		 Age
(range)
No Evidence.
CNV Studies Top
Linkage Studies Top