AutismKB 2.0

Evidence Details for PLXDC2


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Basic Information Top
Gene Symbol:PLXDC2 ( FLJ14623,TEM7R )
Gene Full Name: plexin domain containing 2
Band: 10p12.31
Quick LinksEntrez ID:84898; OMIM: 606827; Uniprot ID:PXDC2_HUMAN; ENSEMBL ID: ENSG00000120594; HGNC ID: 21013
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>PLXDC2|84898|nucleotide
ATGGCGAGGTTCCCGAAGGCCGACCTGGCCGCTGCAGGAGTTATGTTACTTTGCCACTTCTTCACGGACCAGTTTCAGTTCGCCGATGGGAAACCCGGAGACCAA
ATCCTTGATTGGCAGTATGGAGTTACTCAGGCCTTCCCTCACACAGAGGAGGAGGTGGAAGTTGATTCACACGCGTACAGCCACAGGTGGAAAAGAAACTTGGAC
TTTCTCAAGGCGGTAGACACGAACCGAGCAAGCGTCGGCCAAGACTCTCCTGAGCCCAGAAGCTTCACAGACCTGCTGCTGGATGATGGGCAGGACAATAACACT
CAGATCGAGGAGGATACAGACCACAATTACTATATATCTCGAATATATGGTCCATCTGATTCTGCCAGCCGGGATTTATGGGTGAACATAGACCAAATGGAAAAA
GATAAAGTGAAGATTCATGGAATATTGTCCAATACTCATCGGCAAGCTGCAAGAGTGAATCTGTCCTTCGATTTTCCATTTTATGGCCACTTCCTACGTGAAATC
ACTGTGGCAACCGGGGGTTTCATATACACTGGAGAAGTCGTACATCGAATGCTAACAGCCACACAGTACATAGCACCTTTAATGGCAAATTTCGATCCCAGTGTA
TCCAGAAATTCAACTGTCAGATATTTTGATAATGGCACAGCACTTGTGGTCCAGTGGGACCATGTACATCTCCAGGATAATTATAACCTGGGAAGCTTCACATTC
CAGGCAACCCTGCTCATGGATGGACGAATCATCTTTGGATACAAAGAAATTCCTGTCTTGGTCACACAGATAAGTTCAACCAATCATCCAGTGAAAGTCGGACTG
TCCGATGCATTTGTCGTTGTCCACAGGATCCAACAAATTCCCAATGTTCGAAGAAGAACAATTTATGAATACCACCGAGTAGAGCTACAAATGTCAAAAATTACC
AACATTTCGGCTGTGGAGATGACCCCATTACCCACATGCCTCCAGTTTAACAGATGTGGCCCCTGTGTATCTTCTCAGATTGGCTTCAACTGCAGTTGGTGTAGT
AAACTTCAAAGATGTTCCAGTGGATTTGATCGTCATCGGCAGGACTGGGTGGACAGTGGATGCCCTGAAGAGTCAAAAGAGAAGATGTGTGAGAATACAGAACCA
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>PLXDC2|84898|protein
MARFPKADLAAAGVMLLCHFFTDQFQFADGKPGDQILDWQYGVTQAFPHTEEEVEVDSHAYSHRWKRNLDFLKAVDTNRASVGQDSPEPRSFTDLLLDDGQDNNT
QIEEDTDHNYYISRIYGPSDSASRDLWVNIDQMEKDKVKIHGILSNTHRQAARVNLSFDFPFYGHFLREITVATGGFIYTGEVVHRMLTATQYIAPLMANFDPSV
SRNSTVRYFDNGTALVVQWDHVHLQDNYNLGSFTFQATLLMDGRIIFGYKEIPVLVTQISSTNHPVKVGLSDAFVVVHRIQQIPNVRRRTIYEYHRVELQMSKIT
NISAVEMTPLPTCLQFNRCGPCVSSQIGFNCSWCSKLQRCSSGFDRHRQDWVDSGCPEESKEKMCENTEPVETSSRTTTTVGATTTQFRVLTTTRRAVTSQFPTS
LPTEDDTKIALHLKDNGASTDDSAAEKKGGTLHAGLIIGILILVLIVATAILVTVYMYHHPTSAASIFFIERRPSRWPAMKFRRGSGHPAYAEVEPVGEKEGFIV
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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 (1) 0 (0) 0 (0) 0 (0) 2 (2) 0 (1) 0 (0) 0 (0) 0 (0) 2 (4)
Syndromic Autism Gene Top
Genome-Wide Association Studies (By Ethnic Group) Top
Family Based Association Studies: 1
Reference Stage Platform #Families Affecteds Result
#Subjects
(% Women)
ADI-R ADOS Diagnosis Age
(range)
IQ
(range)
CAUCASIAN
Hussman, 2011_1 Discovery Illumina Infinium Human 1 M beadship 597 -
(-)
ASD -
-
-
-
Case Control Based Association Studies: 0
Reference Stage Platform ASD Cases Normal Controls Result
#Subjects
(% Women)
ADI-R ADOS Diagnosis Age
(range)
IQ #Subjects
(% Women)
Age
(range)
No Evidence.
CNV Studies Top
Linkage Studies Top