AutismKB 2.0

Evidence Details for ENPP5


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Basic Information Top
Gene Symbol:ENPP5 ( KIAA0879 )
Gene Full Name: ectonucleotide pyrophosphatase/phosphodiesterase 5 (putative)
Band: 6p21.1
Quick LinksEntrez ID:59084; OMIM: NA; Uniprot ID:ENPP5_HUMAN; ENSEMBL ID: ENSG00000112796; HGNC ID: 13717
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>ENPP5|59084|nucleotide
ATGACTTCGAAATTTCTCTTGGTGTCCTTCATACTTGCTGCACTGAGTCTTTCAACCACCTTTTCTCTCCAACCAGACCAGCAAAAGGTTCTACTAGTTTCTTTT
GATGGATTCCGTTGGGATTACTTATATAAAGTTCCAACGCCCCATTTTCATTATATTATGAAATATGGTGTTCACGTGAAGCAAGTTACTAATGTTTTTATTACA
AAAACCTACCCTAACCATTATACTTTGGTAACTGGCCTCTTTGCAGAGAATCATGGGATTGTTGCAAATGATATGTTTGATCCTATTCGGAACAAATCTTTCTCC
TTGGATCACATGAATATTTATGATTCCAAGTTTTGGGAAGAAGCGACACCAATATGGATCACAAACCAGAGGGCAGGACATACTAGTGGTGCAGCCATGTGGCCC
GGAACAGATGTAAAAATACATAAGCGCTTTCCTACTCATTACATGCCTTACAATGAGTCAGTTTCATTTGAAGATAGAGTTGCCAAAATTATTGAATGGTTTACG
TCAAAAGAGCCCATAAATCTTGGTCTTCTCTATTGGGAAGACCCTGATGACATGGGCCACCATTTGGGACCTGACAGTCCGCTCATGGGGCCTGTCATTTCAGAT
ATTGACAAGAAGTTAGGATATCTCATACAAATGCTGAAAAAGGCAAAGTTGTGGAACACTCTGAACCTAATCATCACAAGTGATCATGGAATGACGCAGTGCTCT
GAGGAAAGGTTAATAGAACTTGACCAGTACCTGGATAAAGACCACTATACCCTGATTGATCAATCTCCAGTAGCAGCCATCTTGCCAAAAGAAGGTAAATTTGAT
GAAGTCTATGAAGCACTAACTCACGCTCATCCTAATCTTACTGTTTACAAAAAAGAAGACGTTCCAGAAAGGTGGCATTACAAATACAACAGTCGAATTCAACCA
ATCATAGCAGTGGCTGATGAAGGGTGGCACATTTTACAGAATAAGTCAGATGACTTTCTGTTAGGCAACCACGGTTACGATAATGCGTTAGCAGATATGCATCCA
ATATTTTTAGCCCATGGTCCTGCCTTCAGAAAGAATTTCTCAAAAGAAGCCATGAACTCCACAGATTTGTACCCACTACTATGCCACCTCCTCAATATCACCGCC
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>ENPP5|59084|protein
MTSKFLLVSFILAALSLSTTFSLQPDQQKVLLVSFDGFRWDYLYKVPTPHFHYIMKYGVHVKQVTNVFITKTYPNHYTLVTGLFAENHGIVANDMFDPIRNKSFS
LDHMNIYDSKFWEEATPIWITNQRAGHTSGAAMWPGTDVKIHKRFPTHYMPYNESVSFEDRVAKIIEWFTSKEPINLGLLYWEDPDDMGHHLGPDSPLMGPVISD
IDKKLGYLIQMLKKAKLWNTLNLIITSDHGMTQCSEERLIELDQYLDKDHYTLIDQSPVAAILPKEGKFDEVYEALTHAHPNLTVYKKEDVPERWHYKYNSRIQP
IIAVADEGWHILQNKSDDFLLGNHGYDNALADMHPIFLAHGPAFRKNFSKEAMNSTDLYPLLCHLLNITAMPHNGSFWNVQDLLNSAMPRVVPYTQSTILLPGSV
KPAEYDQEGSYPYFIGVSLGSIIVIVFFVIFIKHLIHSQIPALQDMHAEIAQPLLQA
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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 (2) 0 (0) 0 (0) 0 (0) 0 (0) 0 (0) 0 (0) 0 (0) 2 (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
Zwaag, 2009 - SNP microarrayautism - - - - 105 267 372
Berkel, 2010 Canada SNP microarrayASD - - - - 396 5023 5419
Linkage Studies Top