Evidence Details for INPP5D
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 Links | Entrez 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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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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MVPCWNHGNITRSKAEELLSRTGKDGSFLVRASESISRAYALCVLYRNCVYTYRILPNEDDKFTVQASEGVSMRFFTKLDQLIEFYKKENMGLVTHLQYPVPLEE
EDTGDDPEEDTVESVVSPPELPPRNIPLTASSCEAKEVPFSNENPRATETSRPSLSETLFQRLQSMDTSGLPEEHLKAIQDYLSTQLAQDSEFVKTGSSSLPHLK
KLTTLLCKELYGEVIRTLPSLESLQRLFDQQLSPGLRPRPQVPGEANPINMVSKLSQLTSLLSSIEDKVKALLHEGPESPHRPSLIPPVTFEVKAESLGIPQKMQ
LKVDVESGKLIIKKSKDGSEDKFYSHKKILQLIKSQKFLNKLVILVETEKEKILRKEYVFADSKKREGFCQLLQQMKNKHSEQPEPDMITIFIGTWNMGNAPPPK
KITSWFLSKGQGKTRDDSADYIPHDIYVIGTQEDPLSEKEWLEILKHSLQEITSVTFKTVAIHTLWNIRIVVLAKPEHENRISHICTDNVKTGIANTLGNKGAVG
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Evidence summary TopClick the link of the category-specific score to view different category of evidences. The categories without any evidences are hidden by default.
| 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 TopGenome-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 TopLinkage Studies TopLow Scale Association Studies (by Ethnic Group) TopLarge Scale Expression Studies Top Microarray Studies: 1
| Reference | Source | Tissue | #Subjects (% Women) |
ADI-R | ADOS | Endo- pheno | Diagnosis | Normal Controls (% Women) |
Fold Change | Up/ Down | P/Q value | |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Baron, 2006_1 | America | human EBV-transformed lymphoblastoid cell lines | 3 (33.33%) | | | - | autism | 3 (33.33%) |
-1.37 | Down | 0.02 | |
| ||||||||||||
Proteomics Studies:0
| Reference | Source | Tissue | Platform | #Subjects (% Women) |
ADI-R | ADOS | Diagnosis | Normal Controls(% Women) | |
|---|---|---|---|---|---|---|---|---|---|
| No Evidence. | |||||||||
NGS de novo Mutation Studies TopNGS Mosaic SNV Studies TopNGS Other Studies Top Low Scale Gene Studies TopContact 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.