Evidence Detail for SNX12 Basic Information
Top Gene Symbol: SNX12 ( MGC118982,MGC118983 ) Gene Full Name: sorting nexin 12 Band: Xq13.1 Quick Links Entrez ID:29934 ; OMIM: ; Uniprot ID:SNX12_HUMAN ; ENSEMBL ID: ENSG00000147164
>SNX12|29934|nucleotide
ATGTCGGACACGGCAGTAGCTGATACCCGGCGCCTTAACTCGAAGCCGCAGGACCTGACCGACGCTTACGGGCCGCCAAGTAACTTCCTGGAGATCGACATCTTT
AATCCTCAGACGGTGGGCGTGGGACGCGCGCGCTTCACCACCTATGAGGTTCGCATGCGGACAAACCTACCTATCTTCAAGCTAAAGGAGTCCTGCGTACGGCGG
CGCTACAGTGACTTTGAGTGGCTGAAAAATGAGCTGGAGAGAGATAGCAAGATTGTAGTACCACCACTGCCTGGGAAAGCCTTGAAGCGGCAGCTCCCTTTCCGA
GGAGATGAAGGGATCTTTGAGGAGTCTTTCATCGAAGAAAGGAGGCAGGGCCTCGAGCAGTTTATTAACAAAATTGCTGGGCACCCACTGGCTCAGAATGAACGC
TGCCTACACATGTTCCTGCAAGAGGAGGCAATTGACAGGAACTACGTCCCGGGGAAGGTGCGCCAGTAG
« Hide >SNX12|29934|protein
MSDTAVADTRRLNSKPQDLTDAYGPPSNFLEIDIFNPQTVGVGRARFTTYEVRMRTNLPIFKLKESCVRRRYSDFEWLKNELERDSKIVVPPLPGKALKRQLPFR
GDEGIFEESFIEERRQGLEQFINKIAGHPLAQNERCLHMFLQEEAIDRNYVPGKVRQ
« Hide Evidence Statistic
Top Click the link of the category-specific score to view different category of evidences. The categories without any evidences are hidden by default .Syndromic Autism Gene
Top Low Scale Association Studies (by Ethnic Group)
Top Family Based Association Studies: 0
Reference
Population
#SNPs/ #VNTRs
#Families
Affecteds
Result
#Subjects (% Women)
ADI-R
ADOS
Diagnosis
Age (range)
IQ (range)
No Evidence.
Case Control Based Association Studies: 0
Reference
Population
#SNPs/ #VNTRs
ASD Cases
Normal Controls
Result
#Subjects (% Women)
ADI-R
ADOS
Diagnosis
Age (range)
IQ
#Subjects (% Women)
Age (range)
No Evidence.
Genome-Wide Association Studies(By Ethnic Group)
Top Family Based Association Studies: 0
Reference
Stage
#SNPs/ #VNTRs
#Families
Affecteds
Result
#Subjects (% Women)
ADI-R
ADOS
Diagnosis
Age (range)
IQ (range)
No Evidence.
Case Control Based Association Studies: 0
Reference
Stage
#SNPs/ #VNTRs
ASD Cases
Normal Controls
Result
#Subjects (% Women)
ADI-R
ADOS
Diagnosis
Age (range)
IQ
#Subjects (% Women)
Age (range)
No Evidence.
Other Low Scale Gene Studies
Top
Reference
Orangnism
Tissue
ADI-R
ADOS
Diagnosis
Evidence Level
Result
Piton, 2010_1
human
blood ASD
genetics: mutation screen Positive
Subjects: 142( 122 males and 20 females)
Normal Controls: -
Methods: direct sequencing
Evidence Details: Exonic variants identified during the the screening of the 205 X-linked synapic genes
Large Scale Expression Studies
Top Microarray Studies: 0
Reference
Population
Tissue
#Subjects (% Women)
ADI-R
ADOS
Endo- pheno
Diagnosis
Normal Controls (% Women)
Fold Change
Up/ Down
P/Q value
No Evidence.
Proteomics Studies:0
Reference
Population
Tissue
Platform
#Subjects (% Women)
ADI-R
ADOS
Diagnosis
Normal Controls(% Women)
No Evidence.
CNV Studies
Top
CNV Name
Chr
Band
Gain/Loss
Number of CNVs
Evidence Type
Reference
Case
Control
No matched CNVs !
Linkage Studies
Top
Linkage Name
Band
Chr
Marker
LOD
NPL
P_Value
Reference
No Matched Linkage Regions !
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