AutismKB 2.0

Evidence Details for INPP5J


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Basic Information Top
Gene Symbol:INPP5J ( INPP5,MGC129984,PIB5PA,PIPP )
Gene Full Name: inositol polyphosphate-5-phosphatase J
Band: 22q12.2
Quick LinksEntrez ID:27124; OMIM: 606481; Uniprot ID:PI5PA_HUMAN; ENSEMBL ID: ENSG00000185133; HGNC ID: 8956
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>INPP5J|27124|nucleotide
ATGGAGGGCCAGAGCAGCAGGGGCAGCAGGAGGCCAGGGACCCGGGCTGGCCTGGGTTCCCTGCCCATGCCCCAGGGTGTTGCCCAAACTGGGGCACCCTCCAAG
GTGGACTCAAGTTTTCAGCTCCCAGCAAAGAAGAACGCAGCCCTAGGACCCTCGGAACCAAGGATCACTGTGGTCACATGGAACGTGGGCACTGCCATGCCCCCA
GACGATGTCACATCCCTCCTCCACCTGGGCGGTGGTGACGACAGCGACGGCGCAGACATGATCGCCATAGGGTTGCAGGAAGTGAACTCCATGCTCAACAAGCGA
CTCAAGGACGCCCTCTTCACGGACCAGTGGAGTGAGCTGTTCATGGATGCGCTAGGGCCCTTCAACTTCGTGCTGGTGAGTTCGGTGAGGATGCAGGGTGTCATC
CTGCTGCTGTTCGCCAAGTACTACCACCTGCCCTTCCTGCGAGACGTGCAGACCGACTGCACGCGCACTGGCCTGGGCGGCTACTGGGGTAACAAGGGTGGCGTG
AGCGTGCGCCTGGCGGCCTTCGGGCACATGCTCTGCTTCCTGAACTGCCACTTGCCTGCGCATATGGACAAGGCGGAGCAGCGCAAAGACAACTTCCAGACCATC
CTCAGCCTCCAGCAGTTCCAAGGGCCGGGCGCACAGGGCATCCTGGATCATGACCTCGTGTTCTGGTTCGGGGACCTGAACTTCCGCATTGAGAGCTATGACCTG
CACTTTGTCAAGTTTGCCATCGACAGTGACCAGCTCCATCAGCTCTGGGAGAAGGACCAGCTCAACATGGCCAAGAACACCTGGCCCATTCTGAAGGGCTTTCAG
GAGGGGCCCCTCAACTTCGCTCCCACCTTCAAGTTTGATGTGGGTACCAACAAATACGATACCAGTGCCAAGAAACGGAAGCCAGCTTGGACAGACCGTATCCTA
TGGAAGGTCAAGGCTCCAGGTGGGGGTCCCAGCCCCTCAGGACGGAAGAGCCACCGACTCCAGGTGACGCAGCACAGCTACCGCAGCCACATGGAATACACAGTC
AGCGACCACAAGCCTGTGGCTGCCCAGTTCCTCCTGCAGTTTGCCTTCAGGGACGACATGCCACTGGTGCGGCTGGAGGTGGCAGATGAGTGGGTGCGGCCCGAG
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>INPP5J|27124|protein
MEGQSSRGSRRPGTRAGLGSLPMPQGVAQTGAPSKVDSSFQLPAKKNAALGPSEPRITVVTWNVGTAMPPDDVTSLLHLGGGDDSDGADMIAIGLQEVNSMLNKR
LKDALFTDQWSELFMDALGPFNFVLVSSVRMQGVILLLFAKYYHLPFLRDVQTDCTRTGLGGYWGNKGGVSVRLAAFGHMLCFLNCHLPAHMDKAEQRKDNFQTI
LSLQQFQGPGAQGILDHDLVFWFGDLNFRIESYDLHFVKFAIDSDQLHQLWEKDQLNMAKNTWPILKGFQEGPLNFAPTFKFDVGTNKYDTSAKKRKPAWTDRIL
WKVKAPGGGPSPSGRKSHRLQVTQHSYRSHMEYTVSDHKPVAAQFLLQFAFRDDMPLVRLEVADEWVRPEQAVVRYRMETVFARSSWDWIGLYRVGFRHCKDYVA
YVWAKHEDVDGNTYQVTFSEESLPKGHGDFILGYYSHNHSILIGITEPFQISLPSSELASSSTDSSGTSSEGEDDSTLELLAPKSRSPSPGKSKRHRSRSPGLAR
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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 (0) 0 (0) 0 (0) 1 (1) 0 (0) 0 (0) 0 (0) 0 (0) 1 (1)
Syndromic Autism Gene Top
Genome-Wide Association Studies(By Ethnic Group) Top
CNV Studies Top
Linkage Studies Top