AutismKB 2.0

Evidence Details for PPA2


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Basic Information Top
Gene Symbol:PPA2 ( FLJ20459,MGC49850,SID6-306 )
Gene Full Name: pyrophosphatase (inorganic) 2
Band: 4q24
Quick LinksEntrez ID:27068; OMIM: 609988; Uniprot ID:IPYR2_HUMAN; ENSEMBL ID: ENSG00000138777; HGNC ID: 28883
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>PPA2|27068|nucleotide
ATGAGCGCGCTGCTGCGGCTGCTGCGCACGGGTGCCCCAGCCGCTGCGTGCCTGCGGTTGGGGACCAGTGCAGGGACCGGGTCGCGCCGTGCTATGGCCCTGTAC
CACACTGAGGAGCGCGGCCAGCCCTGCTCGCAGAATTACCGCCTCTTCTTTAAGAATGTAACTGGTCACTACATTTCCCCCTTTCATGATATTCCTCTGAAGGTG
AACTCTAAAGAGGAAAATGGCATTCCTATGAAGAAAGCACGAAATGATGAATATGAGAATCTGTTTAATATGATTGTAGAAATACCTCGGTGGACAAATGCTAAA
ATGGAGATTGCCACCAAGGAGCCAATGAATCCCATTAAACAATATGTAAAGGATGGAAAGCTACGCTATGTGGCGAATATCTTCCCTTACAAGGGTTATATATGG
AATTATGGTACCCTCCCTCAGATTCTTTCTTGTGGAGAAGTTATTCATGTGAAGATCCTTGGAATTTTGGCTCTTATTGATGAAGGTGAAACAGATTGGAAATTA
ATTGCTATCAATGCGAATGATCCTGAAGCCTCAAAGTTTCATGATATTGATGATGTTAAGAAGTTCAAACCGGGTTACCTGGAAGCTACTCTTAATTGGTTTAGA
TTATATAAGGTACCAGATGGAAAACCAGAAAACCAGTTTGCTTTTAATGGAGAATTCAAAAACAAGGCTTTTGCTCTTGAAGTTATTAAATCCACTCATCAATGT
TGGAAAGCATTGCTTATGAAGAAGTGTAATGGAGGAGCTATAAATTGCACAAACGTGCAGATATCTGATAGCCCTTTCCGTTGCACTCAAGAGGAAGCAAGATCA
TTAGTTGAATCGGTATCATCTTCACCAAATAAAGAAAGTAATGAAGAAGAGCAAGTGTGGCACTTCCTTGGCAAGTGA


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>PPA2|27068|protein
MSALLRLLRTGAPAAACLRLGTSAGTGSRRAMALYHTEERGQPCSQNYRLFFKNVTGHYISPFHDIPLKVNSKEENGIPMKKARNDEYENLFNMIVEIPRWTNAK
MEIATKEPMNPIKQYVKDGKLRYVANIFPYKGYIWNYGTLPQILSCGEVIHVKILGILALIDEGETDWKLIAINANDPEASKFHDIDDVKKFKPGYLEATLNWFR
LYKVPDGKPENQFAFNGEFKNKAFALEVIKSTHQCWKALLMKKCNGGAINCTNVQISDSPFRCTQEEARSLVESVSSSPNKESNEEEQVWHFLGK


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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 (2) 0 (0) 0 (0) 0 (1) 0 (0) 0 (0) 0 (0) 2 (3)
Syndromic Autism Gene Top
Genome-Wide Association Studies(By Ethnic Group) Top
CNV Studies Top
Linkage Studies Top