AutismKB 2.0

Evidence Details for IPPK


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Basic Information Top
Gene Symbol:IPPK ( C9orf12,FLJ13163,INSP5K2,IP5K,IPK1,KIAA0699,bA476B13.1 )
Gene Full Name: inositol 1,3,4,5,6-pentakisphosphate 2-kinase
Band: 9q22.31
Quick LinksEntrez ID:64768; OMIM: NA; Uniprot ID:IPPK_HUMAN; ENSEMBL ID: ENSG00000127080; HGNC ID: 14645
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>IPPK|64768|nucleotide
ATGGAAGAGGGGAAGATGGACGAGAATGAATGGGGGTACCACGGAGAGGGCAATAAGAGCCTGGTGGTGGCCCACGCGCAGCGCTGCGTCGTGCTGCGGTTTCTG
AAGTTTCCTCCAAATAGGAAGAAGACCTCGGAAGAGATATTTCAACACCTGCAGAACATAGTGGACTTTGGGAAAAATGTCATGAAGGAGTTTTTGGGGGAGAAC
TATGTTCATTATGGGGAGGTCGTTCAGCTACCTTTAGAGTTTGTGAAACAGCTTTGTTTAAAGATACAATCTGAAAGACCAGAGTCTCGCTGTGACAAGGACCTG
GATACTCTCAGTGGTTACGCTATGTGCCTTCCTAATTTAACCAGACTCCAAACCTACCGCTTTGCAGAGCACCGGCCGATTCTGTGTGTAGAGATTAAGCCAAAA
TGTGGGTTTATTCCTTTCTCGAGTGATGTCACGCATGAGATGAAGCATAAGGTCTGTCGATACTGCATGCACCAGCACCTCAAGGTAGCAACTGGGAAGTGGAAG
CAGATCAGCAAATACTGTCCCCTTGATCTCTACTCAGGAAACAAACAGAGAATGCACTTTGCCTTGAAGAGTTTGCTGCAGGAGGCACAGAACAACTTGAAGATA
TTTAAGAATGGTGAGCTGATTTACGGCTGCAAAGATGCCCGGAGCCCCGTGGCTGACTGGAGCGAGCTTGCACACCACCTGAAGCCGTTCTTCTTCCCTTCCAAC
GGCCTGGCCAGTGGGCCCCACTGCACAAGGGCTGTGATCAGGGAGCTGGTGCACGTGATCACACGGGTGCTGCTGAGTGGCTCGGACAAGGGCCGGGCAGGCACC
CTGAGTCCGGGGCTCGGGCCTCAGGGCCCGCGAGTCTGCGAAGCCAGCCCTTTCAGTAGGAGCCTTCGCTGCCAAGGAAAAAACACCCCAGAGCGCTCGGGGTTA
CCGAAGGGCTGTCTTCTGTACAAAACCCTCCAGGTGCAGATGTTGGACCTGCTGGACATCGAAGGCCTCTACCCTCTGTACAACCGGGTTGAGCGATACCTGGAA
GAGTTTCCCGAGGAGAGAAAAACCTTACAAATAGATGGGCCTTATGATGAAGCATTTTACCAGAAGCTGCTTGACCTTTCCACTGAGGATGACGGGACAGTGGCC
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>IPPK|64768|protein
MEEGKMDENEWGYHGEGNKSLVVAHAQRCVVLRFLKFPPNRKKTSEEIFQHLQNIVDFGKNVMKEFLGENYVHYGEVVQLPLEFVKQLCLKIQSERPESRCDKDL
DTLSGYAMCLPNLTRLQTYRFAEHRPILCVEIKPKCGFIPFSSDVTHEMKHKVCRYCMHQHLKVATGKWKQISKYCPLDLYSGNKQRMHFALKSLLQEAQNNLKI
FKNGELIYGCKDARSPVADWSELAHHLKPFFFPSNGLASGPHCTRAVIRELVHVITRVLLSGSDKGRAGTLSPGLGPQGPRVCEASPFSRSLRCQGKNTPERSGL
PKGCLLYKTLQVQMLDLLDIEGLYPLYNRVERYLEEFPEERKTLQIDGPYDEAFYQKLLDLSTEDDGTVAFALTKVQQYRVAMTAKDCSIMIALSPCLQDASSDQ
RPVVPSSRSRFAFSVSVLDLDLKPYESIPHQYKLDGKIVNYYSKTVRAKDNAVMSTRFKESEDCTLVLHKV
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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) 0 (0) 0 (2) 0 (0) 0 (0) 0 (0) 0 (2)
Syndromic Autism Gene Top
Genome-Wide Association Studies(By Ethnic Group) Top
CNV Studies Top
Linkage Studies Top