AutismKB 2.0

Evidence Details for ITPKA


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Basic Information Top
Gene Symbol:ITPKA ( IP3-3KA,IP3KA )
Gene Full Name: inositol 1,4,5-trisphosphate 3-kinase A
Band: 15q15.1
Quick LinksEntrez ID:3706; OMIM: 147521; Uniprot ID:IP3KA_HUMAN; ENSEMBL ID: ENSG00000137825; HGNC ID: 6178
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>ITPKA|3706|nucleotide
ATGACCCTGCCCGGGGGCCCAACGGGCATGGCGCGGCCGGGGGGCGCGAGGCCCTGCAGCCCGGGGCTGGAGCGGGCCCCGCGCCGGAGTGTCGGGGAGCTGCGC
CTGCTCTTCGAGGCGCGCTGTGCGGCGGTCGCTGCGGCCGCCGCCGCGGGGGAGCCCCGGGCCCGCGGGGCCAAGCGGCGTGGGGGACAGGTCCCCAACGGGCTT
CCGCGGGCTCCCCCGGCCCCGGTGATCCCTCAGCTGACCGTGACAGCCGAGGAGCCCGACGTGCCCCCGACCAGCCCTGGGCCGCCGGAGCGGGAGAGGGACTGC
CTCCCGGCAGCGGGCTCTTCGCACCTGCAGCAGCCGCGCCGCCTTTCCACCTCGTCGGTCTCCTCCACTGGCTCCTCGTCGCTGCTCGAGGACTCGGAGGACGAC
CTGCTGAGCGACAGTGAGAGCCGGAGCCGCGGCAACGTGCAGCTGGAAGCGGGCGAGGACGTGGGTCAGAAAAACCACTGGCAGAAGATCCGGACCATGGTCAAT
CTGCCGGTCATAAGCCCTTTCAAGAAGCGCTACGCCTGGGTGCAGCTGGCAGGGCACACTGGGAGTTTTAAGGCGGCGGGCACCAGCGGGCTGATCCTGAAGCGC
TGCTCGGAGCCGGAGCGCTACTGCCTGGCGCGGCTGATGGCTGACGCGCTGCGCGGCTGCGTGCCTGCCTTCCACGGCGTGGTGGAGCGCGACGGCGAAAGCTAC
CTGCAGCTGCAGGACCTGCTCGATGGCTTCGACGGACCTTGTGTGCTCGACTGCAAAATGGGCGTCAGGACTTACCTAGAGGAGGAGCTGACCAAGGCCCGTGAG
CGGCCCAAGCTGCGGAAGGACATGTACAAGAAAATGCTGGCGGTGGATCCTGAAGCTCCCACGGAGGAGGAGCACGCGCAGCGCGCCGTCACCAAGCCGCGCTAC
ATGCAGTGGCGGGAAGGCATCAGCTCCAGCACCACCCTCGGCTTCCGCATCGAGGGCATCAAGAAAGCGGACGGCTCCTGCAGCACCGACTTCAAGACTACGCGA
AGCCGAGAGCAGGTGCTTCGCGTCTTTGAAGAGTTTGTGCAAGGAGATGAGGAAGTGCTGAGGCGGTATCTGAACCGCCTGCAGCAGATCCGGGACACCCTGGAG
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>ITPKA|3706|protein
MTLPGGPTGMARPGGARPCSPGLERAPRRSVGELRLLFEARCAAVAAAAAAGEPRARGAKRRGGQVPNGLPRAPPAPVIPQLTVTAEEPDVPPTSPGPPERERDC
LPAAGSSHLQQPRRLSTSSVSSTGSSSLLEDSEDDLLSDSESRSRGNVQLEAGEDVGQKNHWQKIRTMVNLPVISPFKKRYAWVQLAGHTGSFKAAGTSGLILKR
CSEPERYCLARLMADALRGCVPAFHGVVERDGESYLQLQDLLDGFDGPCVLDCKMGVRTYLEEELTKARERPKLRKDMYKKMLAVDPEAPTEEEHAQRAVTKPRY
MQWREGISSSTTLGFRIEGIKKADGSCSTDFKTTRSREQVLRVFEEFVQGDEEVLRRYLNRLQQIRDTLEVSEFFRRHEVIGSSLLFVHDHCHRAGVWLIDFGKT
TPLPDGQILDHRRPWEEGNREDGYLLGLDNLIGILASLAER
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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) 1 (1) 0 (0) 1 (1) 0 (0) 0 (0) 0 (0) 0 (0) 3 (2)
Syndromic Autism Gene Top
Genome-Wide Association Studies(By Ethnic Group) Top
CNV Studies Top
Linkage Studies Top