AutismKB 2.0

Evidence Details for INPP1


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Basic Information Top
Gene Symbol:INPP1 ( MGC110984 )
Gene Full Name: inositol polyphosphate-1-phosphatase
Band: 2q32.2
Quick LinksEntrez ID:3628; OMIM: 147263; Uniprot ID:INPP_HUMAN; ENSEMBL ID: ENSG00000151689; HGNC ID: 6071
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>INPP1|3628|nucleotide
ATGTCAGATATCCTCCGGGAGCTGCTCTGTGTCTCTGAGAAGGCTGCTAACATTGCCCGGGCGTGCAGACAGCAGGAAGCCCTCTTCCAGCTGCTGATCGAAGAA
AAGAAAGAGGGAGAAAAGAACAAGAAGTTTGCAGTTGACTTCAAGACGCTGGCTGATGTACTGGTACAGGAAGTTATAAAACAGAATATGGAGAACAAGTTTCCA
GGCTTGGAAAAAAATATTTTTGGAGAAGAATCCAATGAGTTTACTAATGACTGGGGGGAAAAGATTACCTTGAGGTTGTGTTCAACAGAGGAGGAAACAGCAGAG
CTTCTTAGCAAAGTCCTCAATGGTAACAAGGTGGCATCTGAAGCATTAGCCAGGGTTGTTCATCAGGATGTTGCCTTTACTGACCCAACTCTGGATTCCACAGAG
ATCAATGTTCCACAGGACATTTTGGGAATTTGGGTGGACCCCATAGATTCAACTTATCAGTATATAAAAGGTTCTGCTGACATTAAATCCAACCAGGGAATCTTC
CCCTGTGGACTTCAGTGTGTCACCATTTTAATTGGTGTCTATGACATACAGACAGGGGTTCCCCTGATGGGAGTCATCAATCAACCTTTTGTGTCACGAGATCCA
AACACCCTCAGGTGGAAAGGACAGTGCTATTGGGGCCTTTCTTACATGGGGACCAACATGCATTCACTACAGCTCACCATCTCTAGAAGAAACGGCAGTGAAACA
CACACTGGAAACACCGGCTCTGAGGCAGCATTCTCCCCCAGTTTTTCAGCCGTAATTAGTACAAGTGAAAAGGAGACTATCAAAGCTGCATTGTCACGTGTGTGT
GGAGATCGCATATTTGGGGCAGCTGGGGCTGGTTATAAGAGCCTATGTGTTGTCCAAGGCCTCGTTGACATTTACATCTTTTCAGAAGATACCACATTCAAATGG
GACTCTTGTGCTGCTCATGCCATACTGAGGGCCATGGGTGGGGGAATAGTAGACTTGAAAGAATGCTTAGAAAGAAATCCAGAAACAGGGCTTGATTTGCCACAG
TTGGTGTACCACGTGGAAAATGAGGGTGCTGCTGGGGTGGATCGGTGGGCCAACAAGGGAGGACTCATTGCATACAGATCCAGGAAGCGGCTGGAGACATTCCTG
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>INPP1|3628|protein
MSDILRELLCVSEKAANIARACRQQEALFQLLIEEKKEGEKNKKFAVDFKTLADVLVQEVIKQNMENKFPGLEKNIFGEESNEFTNDWGEKITLRLCSTEEETAE
LLSKVLNGNKVASEALARVVHQDVAFTDPTLDSTEINVPQDILGIWVDPIDSTYQYIKGSADIKSNQGIFPCGLQCVTILIGVYDIQTGVPLMGVINQPFVSRDP
NTLRWKGQCYWGLSYMGTNMHSLQLTISRRNGSETHTGNTGSEAAFSPSFSAVISTSEKETIKAALSRVCGDRIFGAAGAGYKSLCVVQGLVDIYIFSEDTTFKW
DSCAAHAILRAMGGGIVDLKECLERNPETGLDLPQLVYHVENEGAAGVDRWANKGGLIAYRSRKRLETFLSLLVQNLAPAETHT

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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) 1 (1) 0 (0) 1 (1) 0 (0) 0 (0) 0 (0) 0 (0) 0 (0) 4 (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
Gallagher, 2003 - Chromosomal analysis of G-bandautism - - - - 1 - 1
Linkage Studies Top