Evidence Details for PDXDC1
Basic Information Top
| Gene Symbol: | PDXDC1 ( KIAA0251,LP8165 ) |
|---|---|
| Gene Full Name: | pyridoxal-dependent decarboxylase domain containing 1 |
| Band: | 16p13.11 |
| Quick Links | Entrez 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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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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MDASLEKIADPTLAEMGKNLKEAVKMLEDSQRRTEEENGKKLISGDIPGPLQGSGQDMVSILQLVQNLMHGDEDEEPQSPRIQNIGEQGHMALLGHSLGAYISTL
DKEKLRKLTTRILSDTTLWLCRIFRYENGCAYFHEEEREGLAKICRLAIHSRYEDFVVDGFNVLYNKKPVIYLSAAARPGLGQYLCNQLGLPFPCLCRVPCNTVF
GSQHQMDVAFLEKLIKDDIERGRLPLLLVANAGTAAVGHTDKIGRLKELCEQYGIWLHVEGVNLATLALGYVSSSVLAAAKCDSMTMTPGPWLGLPAVPAVTLYK
HDDPALTLVAGLTSNKPTDKLRALPLWLSLQYLGLDGFVERIKHACQLSQRLQESLKKVNYIKILVEDELSSPVVVFRFFQELPGSDPVFKAVPVPNMTPSGVGR
ERHSCDALNRWLGEQLKQLVPASGLTVMDLEAEGTCLRFSPLMTAAVLGTRGEDVDQLVACIESKLPVLCCTLQLREEFKQEVEATAGLLYVDDPNWSGIGVVRY
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Evidence summary TopClick the link of the category-specific score to view different category of evidences. The categories without any evidences are hidden by default.
| 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 TopGenome-Wide Association Studies(By Ethnic Group) TopCNV Studies Top| Reference | Source | Method | ADI-R | ADOS | Diagnosis | Family | Individual | |||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Total | Simplex | Multiplex | Control | Affected | Control | Total | ||||||
| Ullmann, 2007 | Australia | aCGH |  | | autism | - | - | - | - | 70 | - | 70 |
| Pinto, 2010 | - | SNP microarray, qPCR |  | | ASD | - | - | - | - | 996 | 1287 | 2283 |
| Levy, 2011 | Simons Simplex Collection | aCGH | - | - | ASD | 915 | 915 | - | - | - | - | - |
| Smyk M, 2016 | - | aCGH | - | - | DD;ADHD | - | - | - | - | 1 | - | 1 |
Linkage Studies Top| Reference | Source | Method | ADI-R | ADOS | Diagnosis | Family | Individual | |||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Total | Simplex | Multiplex | Control | Affected | Control | Total | ||||||
| Buxbaum, 2004 | USA | microsatellite-based genomic screen | | | autism | 115 | - | 115 | - | - | - | - |
Low Scale Association Studies (by Ethnic Group) TopLarge Scale Expression Studies Top Microarray Studies: 2
| Reference | Source | Tissue | #Subjects (% Women) |
ADI-R | ADOS | Endo- pheno | Diagnosis | Normal Controls (% Women) |
Fold Change | Up/ Down | P/Q value | |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Nishimura, 2007_1 | America | lymphoblastoid cell lines | 8 (-) | | | autism with FMR1-FM | autism | 15 (-) |
0.78 | Down | 0.0000041 | |
| ||||||||||||
| Nishimura, 2007_2 | America | lymphoblastoid cell lines | 7 (-) | | | autism with dup(15q) | autism | 15 (-) |
0.84 | Down | 0.0000041 | |
| ||||||||||||
Proteomics Studies:0
| Reference | Source | Tissue | Platform | #Subjects (% Women) |
ADI-R | ADOS | Diagnosis | Normal Controls(% Women) | |
|---|---|---|---|---|---|---|---|---|---|
| No Evidence. | |||||||||
NGS de novo Mutation Studies Top| Reference | Case Number | Family Number | de novo Number | Title |
|---|---|---|---|---|
| Iossifov I, 2014 | 2508 | - | 1194 | The contribution of de novo coding mutations to autism spectrum disorder. |
| Chen R, 2017 | 107 | 116 | 128 | Leveraging blood serotonin as an endophenotype to identify de novo and rare variants involved in aut |
NGS Mosaic SNV Studies Top| Reference | Case Number | Family Number | Mosaic Number | Title |
|---|---|---|---|---|
| Lim ET, 2017 | - | 5947 | 376 | Rates, distribution and implications of postzygotic mosaic mutations in autism spectrum disorder |
NGS Other Studies Top Low Scale Gene Studies TopContact Us if you are an author of a study regarding this gene and do not find your study in this table or find errors in the representation of your study details.