AutismKB 2.0

Evidence Details for PDXDC1


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Basic Information Top
Gene Symbol:PDXDC1 ( KIAA0251,LP8165 )
Gene Full Name: pyridoxal-dependent decarboxylase domain containing 1
Band: 16p13.11
Quick LinksEntrez ID:23042; OMIM: NA; Uniprot ID:PDXD1_HUMAN; ENSEMBL ID: ENSG00000179889; HGNC ID: 28995
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>PDXDC1|23042|nucleotide
ATGGACGCGTCCCTGGAGAAGATAGCAGACCCCACGTTAGCTGAAATGGGAAAAAACTTGAAGGAGGCAGTGAAGATGCTGGAGGACAGTCAGAGAAGAACAGAA
GAGGAAAATGGAAAGAAGCTCATATCCGGAGATATTCCAGGCCCACTCCAGGGCAGTGGGCAAGATATGGTGAGCATCCTCCAGTTAGTTCAGAATCTCATGCAT
GGAGATGAAGATGAGGAGCCCCAGAGCCCCAGAATCCAAAATATTGGAGAACAAGGTCATATGGCTTTGTTGGGACATAGTCTGGGAGCTTATATTTCAACTCTG
GACAAAGAGAAGCTGAGAAAACTTACAACTAGGATACTTTCAGATACCACCTTATGGCTATGCAGAATTTTCAGATATGAAAATGGGTGTGCTTATTTCCACGAA
GAGGAAAGAGAAGGACTTGCAAAGATATGTAGGCTTGCCATTCATTCTCGATATGAAGACTTCGTAGTGGATGGCTTCAATGTGTTATATAACAAGAAGCCTGTC
ATATATCTTAGTGCTGCTGCTAGACCTGGCCTGGGCCAATACCTTTGTAATCAGCTCGGCTTGCCCTTCCCCTGCTTGTGCCGTGTACCCTGTAACACTGTGTTT
GGATCCCAGCATCAGATGGATGTTGCCTTCCTGGAGAAACTGATTAAAGATGATATAGAGCGAGGAAGACTGCCCCTGTTGCTTGTCGCAAATGCAGGAACGGCA
GCAGTAGGACACACAGACAAGATTGGGAGATTGAAAGAACTCTGTGAGCAGTATGGCATATGGCTTCATGTGGAGGGTGTGAATCTGGCAACATTGGCTCTGGGT
TATGTCTCCTCATCAGTGCTGGCTGCAGCCAAATGTGATAGCATGACGATGACTCCTGGCCCGTGGCTGGGTTTGCCAGCTGTTCCTGCGGTGACACTGTATAAA
CACGATGACCCTGCCTTGACTTTAGTTGCTGGTCTTACATCAAATAAGCCCACAGACAAACTCCGTGCCCTGCCTCTGTGGTTATCTTTACAATACTTGGGACTT
GATGGGTTTGTGGAGAGGATCAAGCATGCCTGTCAACTGAGTCAACGGTTGCAGGAAAGTTTGAAGAAAGTGAATTACATCAAAATCTTGGTGGAAGATGAGCTC
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>PDXDC1|23042|protein
MDASLEKIADPTLAEMGKNLKEAVKMLEDSQRRTEEENGKKLISGDIPGPLQGSGQDMVSILQLVQNLMHGDEDEEPQSPRIQNIGEQGHMALLGHSLGAYISTL
DKEKLRKLTTRILSDTTLWLCRIFRYENGCAYFHEEEREGLAKICRLAIHSRYEDFVVDGFNVLYNKKPVIYLSAAARPGLGQYLCNQLGLPFPCLCRVPCNTVF
GSQHQMDVAFLEKLIKDDIERGRLPLLLVANAGTAAVGHTDKIGRLKELCEQYGIWLHVEGVNLATLALGYVSSSVLAAAKCDSMTMTPGPWLGLPAVPAVTLYK
HDDPALTLVAGLTSNKPTDKLRALPLWLSLQYLGLDGFVERIKHACQLSQRLQESLKKVNYIKILVEDELSSPVVVFRFFQELPGSDPVFKAVPVPNMTPSGVGR
ERHSCDALNRWLGEQLKQLVPASGLTVMDLEAEGTCLRFSPLMTAAVLGTRGEDVDQLVACIESKLPVLCCTLQLREEFKQEVEATAGLLYVDDPNWSGIGVVRY
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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 (4) 1 (1) 0 (0) 2 (2) 1 (2) 0 (1) 0 (0) 0 (0) 16 (10)
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
Ullmann, 2007 Australia aCGHautism - - - - 70 - 70
Pinto, 2010 - SNP microarray, qPCRASD - - - - 996 1287 2283
Levy, 2011 Simons Simplex Collection aCGH--ASD 915 915 - - - - -
Smyk M, 2016 - aCGH--DD;ADHD - - - - 1 - 1
Linkage Studies Top