Evidence Details for PDXP
Basic Information Top
| Gene Symbol: | PDXP ( CIN,FLJ32703,PLP,dJ37E16.5 ) |
|---|---|
| Gene Full Name: | pyridoxal (pyridoxine, vitamin B6) phosphatase |
| Band: | 22q13.1 |
| Quick Links | Entrez ID:57026; OMIM: 609246; Uniprot ID:PLPP_HUMAN; ENSEMBL ID: ENSG00000100092; HGNC ID: 30259 |
| Relate to Another Database: | SFARIGene; denovo-db |
Sequences Top>PDXP|57026|nucleotide
ATGGCGCGCTGCGAGAGGCTGCGCGGAGCGGCCCTGCGCGACGTGCTGGGCCGGGCGCAGGGGGTCCTGTTCGACTGTGACGGGGTGCTGTGGAACGGCGAGCGC
GCCGTGCCGGGCGCCCCGGAGCTGCTGGAGCGGCTGGCGCGGGCCGGCAAGGCGGCTCTGTTTGTGAGCAACAACAGCCGGCGCGCGCGGCCCGAGCTGGCCCTG
CGCTTCGCGCGCCTCGGCTTCGGGGGGCTGCGCGCCGAGCAGCTCTTCAGCTCCGCGCTGTGCGCCGCGCGCCTGCTGCGCCAGCGCCTGCCCGGGCCTCCGGAC
GCGCCGGGCGCCGTGTTCGTGCTGGGCGGCGAGGGGCTGCGCGCCGAGCTGCGCGCCGCGGGGCTGCGCCTGGCCGGGGACCCGAGCGCGGGGGACGGCGCGGCC
CCGCGCGTGCGCGCCGTGCTTGTGGGCTACGACGAGCACTTCTCCTTCGCCAAGCTGAGGGAGGCGTGCGCGCACCTGCGCGACCCCGAGTGCCTACTCGTGGCC
ACCGACCGTGACCCATGGCACCCGCTGAGCGACGGCAGCCGGACCCCTGGCACCGGGAGCCTGGCCGCTGCAGTGGAGACAGCCTCGGGACGCCAGGCCCTGGTG
GTGGGCAAGCCCAGCCCCTACATGTTCGAGTGCATCACGGAGAACTTCAGCATCGACCCCGCACGCACGCTTATGGTGGGTGACCGCCTGGAGACCGACATCCTC
TTTGGCCACCGCTGCGGCATGACCACTGTGCTCACGCTCACAGGAGTCTCCCGCCTAGAAGAGGCCCAGGCCTACCTAGCGGCCGGCCAGCACGACCTCGTGCCC
CATTACTATGTGGAGAGCATCGCAGACTTGACAGAGGGGTTGGAGGACTGA
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ATGGCGCGCTGCGAGAGGCTGCGCGGAGCGGCCCTGCGCGACGTGCTGGGCCGGGCGCAGGGGGTCCTGTTCGACTGTGACGGGGTGCTGTGGAACGGCGAGCGC
GCCGTGCCGGGCGCCCCGGAGCTGCTGGAGCGGCTGGCGCGGGCCGGCAAGGCGGCTCTGTTTGTGAGCAACAACAGCCGGCGCGCGCGGCCCGAGCTGGCCCTG
CGCTTCGCGCGCCTCGGCTTCGGGGGGCTGCGCGCCGAGCAGCTCTTCAGCTCCGCGCTGTGCGCCGCGCGCCTGCTGCGCCAGCGCCTGCCCGGGCCTCCGGAC
GCGCCGGGCGCCGTGTTCGTGCTGGGCGGCGAGGGGCTGCGCGCCGAGCTGCGCGCCGCGGGGCTGCGCCTGGCCGGGGACCCGAGCGCGGGGGACGGCGCGGCC
CCGCGCGTGCGCGCCGTGCTTGTGGGCTACGACGAGCACTTCTCCTTCGCCAAGCTGAGGGAGGCGTGCGCGCACCTGCGCGACCCCGAGTGCCTACTCGTGGCC
ACCGACCGTGACCCATGGCACCCGCTGAGCGACGGCAGCCGGACCCCTGGCACCGGGAGCCTGGCCGCTGCAGTGGAGACAGCCTCGGGACGCCAGGCCCTGGTG
GTGGGCAAGCCCAGCCCCTACATGTTCGAGTGCATCACGGAGAACTTCAGCATCGACCCCGCACGCACGCTTATGGTGGGTGACCGCCTGGAGACCGACATCCTC
TTTGGCCACCGCTGCGGCATGACCACTGTGCTCACGCTCACAGGAGTCTCCCGCCTAGAAGAGGCCCAGGCCTACCTAGCGGCCGGCCAGCACGACCTCGTGCCC
CATTACTATGTGGAGAGCATCGCAGACTTGACAGAGGGGTTGGAGGACTGA
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>PDXP|57026|protein
MARCERLRGAALRDVLGRAQGVLFDCDGVLWNGERAVPGAPELLERLARAGKAALFVSNNSRRARPELALRFARLGFGGLRAEQLFSSALCAARLLRQRLPGPPD
APGAVFVLGGEGLRAELRAAGLRLAGDPSAGDGAAPRVRAVLVGYDEHFSFAKLREACAHLRDPECLLVATDRDPWHPLSDGSRTPGTGSLAAAVETASGRQALV
VGKPSPYMFECITENFSIDPARTLMVGDRLETDILFGHRCGMTTVLTLTGVSRLEEAQAYLAAGQHDLVPHYYVESIADLTEGLED
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MARCERLRGAALRDVLGRAQGVLFDCDGVLWNGERAVPGAPELLERLARAGKAALFVSNNSRRARPELALRFARLGFGGLRAEQLFSSALCAARLLRQRLPGPPD
APGAVFVLGGEGLRAELRAAGLRLAGDPSAGDGAAPRVRAVLVGYDEHFSFAKLREACAHLRDPECLLVATDRDPWHPLSDGSRTPGTGSLAAAVETASGRQALV
VGKPSPYMFECITENFSIDPARTLMVGDRLETDILFGHRCGMTTVLTLTGVSRLEEAQAYLAAGQHDLVPHYYVESIADLTEGLED
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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 (2) | 0 (0) | 0 (0) | 0 (0) | 0 (1) | 0 (0) | 0 (0) | 0 (0) | 2 (3) |
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 | ||||||
| Prasad, 2000 | - | FISH |  | | autism | - | - | - | - | 1 | - | 1 |
| Wassink, 2001 | USA | Chromosomal analysis of G-band | | | autism | - | - | - | - | 278 | - | 278 |
Linkage Studies Top