AutismKB 2.0

Evidence Details for SPANXN5


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Basic Information Top
Gene Symbol:SPANXN5 ( CT11.10,SPANX-N5 )
Gene Full Name: SPANX family, member N5
Band: Xp11.22
Quick LinksEntrez ID:494197; OMIM: 300668; Uniprot ID:SPXN5_HUMAN; ENSEMBL ID: ENSG00000204363; HGNC ID: 33178
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>SPANXN5|494197|nucleotide
ATGGAAAAGCCCACTTCAAGCACCAATGGGGAGAAGAGGAAGAGCCCCTGTGACTCCAACAGCAAAAATGATGAGATGCAGGAGACACCAAACAGGGACTTAGTC
CTCGAACCGAGTTTGAAAAAGATGAAAACATCAGAATATTCAACAGTATTAGTGTTGTGCTACAGGAAGACTAAGAAAATACATTCAAATCAACTGGAGAATGAC
CAGTCCTGA








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>SPANXN5|494197|protein
MEKPTSSTNGEKRKSPCDSNSKNDEMQETPNRDLVLEPSLKKMKTSEYSTVLVLCYRKTKKIHSNQLENDQS




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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 (3) 0 (0) 0 (0) 0 (0) 0 (0) 0 (0) 0 (0) 0 (0) 2 (3)
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
Marshall, 2008 - SNP microarrayASD 427 238 189 - 427 500 927
Edens, 2011 Honduras aCGHautism - - - - 1 - 1
Edens, 2011 Austria FISH, aCGHautism - - - - 1 - 1
Edens, 2011 Honduras aCGHautism - - - - 1 - 1
Edens, 2011 Austria FISH, aCGHautism - - - - 1 - 1
Linkage Studies Top