AutismKB 2.0

Evidence Details for TSPAN9


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Basic Information Top
Gene Symbol:TSPAN9 ( NET-5,NET5,PP1057 )
Gene Full Name: tetraspanin 9
Band: 12p13.33-p13.32
Quick LinksEntrez ID:10867; OMIM: 613137; Uniprot ID:TSN9_HUMAN; ENSEMBL ID: ENSG00000011105; HGNC ID: 21640
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>TSPAN9|10867|nucleotide
ATGGCCAGGGGCTGCCTCTGCTGCTTGAAGTACATGATGTTCCTCTTCAATTTGATATTCTGGCTCTGTGGCTGTGGGCTGCTGGGAGTGGGCATCTGGCTCTCC
GTGTCCCAAGGCAACTTTGCCACCTTCTCCCCCAGCTTCCCTTCGTTGTCTGCAGCCAACCTGGTCATTGCCATAGGCACCATTGTCATGGTGACGGGCTTCCTC
GGCTGCCTGGGGGCCATCAAGGAAAACAAGTGCCTCCTCCTCAGCTTTTTCATCGTCCTGTTGGTCATCCTCCTAGCAGAGCTGATCTTACTCATCCTCTTCTTT
GTCTACATGGACAAGGTGAACGAGAACGCCAAGAAGGACCTGAAGGAAGGCCTGCTGCTGTACCACACCGAGAACAACGTGGGGCTGAAGAACGCCTGGAACATC
ATCCAGGCTGAGATGCGATGCTGTGGTGTCACTGACTACACAGACTGGTACCCAGTGCTGGGGGAGAACACGGTTCCCGACCGCTGCTGCATGGAGAACTCCCAG
GGCTGCGGGCGCAACGCCACCACGCCTTTGTGGAGAACGGGCTGCTATGAAAAGGTGAAGATGTGGTTCGATGACAATAAGCACGTGCTGGGCACGGTGGGGATG
TGCATCCTCATCATGCAGATCCTGGGCATGGCCTTCTCCATGACCCTCTTCCAGCACATCCACCGGACTGGTAAGAAGTACGACGCATGA




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>TSPAN9|10867|protein
MARGCLCCLKYMMFLFNLIFWLCGCGLLGVGIWLSVSQGNFATFSPSFPSLSAANLVIAIGTIVMVTGFLGCLGAIKENKCLLLSFFIVLLVILLAELILLILFF
VYMDKVNENAKKDLKEGLLLYHTENNVGLKNAWNIIQAEMRCCGVTDYTDWYPVLGENTVPDRCCMENSQGCGRNATTPLWRTGCYEKVKMWFDDNKHVLGTVGM
CILIMQILGMAFSMTLFQHIHRTGKKYDA


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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 (1) 0 (0) 0 (0) 1 (1) 0 (0) 0 (0) 0 (0) 0 (0) 1 (3)
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
Reference Source Method ADI-R ADOS Diagnosis Family Individual
Total Simplex Multiplex Control Affected Control Total
Bremer, 2011 - aCGHASD - - - - 223 - 223
Linkage Studies Top