Evidence Detail for SNAP25 Basic Information
Top Gene Symbol: SNAP25 ( FLJ23079,RIC-4,RIC4,SEC9,SNAP,SNAP-25,bA416N4.2,dJ1068F16.2 ) Gene Full Name: synaptosomal-associated protein, 25kDa Band: 20p12-p11.2 Quick Links Entrez ID:6616 ; OMIM: 600322 ; Uniprot ID:SNP25_HUMAN ; ENSEMBL ID: ENSG00000132639
>SNAP25|6616|nucleotide
ATGGCCGAAGACGCAGACATGCGCAATGAGCTGGAGGAGATGCAGCGAAGGGCTGACCAGTTGGCTGATGAGTCGCTGGAAAGCACCCGTCGTATGCTGCAACTG
GTTGAAGAGAGTAAAGATGCTGGTATCAGGACTTTGGTTATGTTGGATGAACAAGGAGAACAACTCGATCGTGTCGAAGAAGGCATGAACCATATCAACCAAGAC
ATGAAGGAGGCTGAGAAAAATTTAAAAGATTTAGGGAAATGCTGTGGCCTTTTCATATGTCCTTGTAACAAGCTTAAATCAAGTGATGCTTACAAAAAAGCCTGG
GGCAATAATCAGGACGGAGTGGTGGCCAGCCAGCCTGCTCGTGTAGTGGACGAACGGGAGCAGATGGCCATCAGTGGCGGCTTCATCCGCAGGGTAACAAATGAT
GCCCGAGAAAATGAAATGGATGAAAACCTAGAGCAGGTGAGCGGCATCATCGGGAACCTCCGTCACATGGCCCTGGATATGGGCAATGAGATCGATACACAGAAT
CGCCAGATCGACAGGATCATGGAGAAGGCTGATTCCAACAAAACCAGAATTGATGAGGCCAACCAACGTGCAACAAAGATGCTGGGAAGTGGTTAA
« Hide >SNAP25|6616|protein
MAEDADMRNELEEMQRRADQLADESLESTRRMLQLVEESKDAGIRTLVMLDEQGEQLDRVEEGMNHINQDMKEAEKNLKDLGKCCGLFICPCNKLKSSDAYKKAW
GNNQDGVVASQPARVVDEREQMAISGGFIRRVTNDARENEMDENLEQVSGIIGNLRHMALDMGNEIDTQNRQIDRIMEKADSNKTRIDEANQRATKMLGSG
« 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
ADI-R
ADOS
Diagnosis
Age
IQ
No Evidence.
Case Control Based Association Studies: 0
Reference
Population
#SNPs/ #VNTRs
ASD Cases
Normal Controls
Result
#Subjects
ADI-R
ADOS
Diagnosis
Age
IQ
#Subjects
Age
No Evidence.
Genome-Wide Association Studies(By Ethnic Group)
Top Family Based Association Studies: 0
Reference
Stage
#SNPs/ #VNTRs
#Families
Affecteds
Result
#Subjects
ADI-R
ADOS
Diagnosis
Age
IQ
No Evidence.
Case Control Based Association Studies: 0
Reference
Stage
#SNPs/ #VNTRs
ASD Cases
Normal Controls
Result
#Subjects
ADI-R
ADOS
Diagnosis
Age
IQ
#Subjects
Age
No Evidence.
Other Low Scale Gene Studies
Top
Reference
Orangnism
Tissue
ADI-R
ADOS
Diagnosis
Evidence Level
Result
Guerini, 2011_1 human
blood ASD
genotype-phenotype interaction Positive
Subjects: 67 patients(51male, 16 female)
Normal Controls: 205 (165 male, 40 female)
Methods: Taqman SNP Genotyping Assays on an ABI PRISM 7000 Sequence Detection System
Evidence Details: No significant difference of the genotype and allelic distribution was revealed between the two groups. But the SNP of this gene are associated with the degree of hyperactivity in children with ASD
Large Scale Expression Studies
Top Microarray Studies: 1
Reference
Population
Tissue
#Subjects
ADI-R
ADOS
Endo- pheno
Diagnosis
Normal Controls
Fold Change
Up/ Down
P/Q value
Voineagu, 2011_1 Unknown
16 frontal cortex(BA9) and 13 temporal cortex(BA41
16 - autism
16
0.610725
Down
0.932912
Platform: Illumina Ref8 v3 microarrays
ProbeSet: ILMN_2408080
RefSeq_ID/ EST: -
GEO_ID: GSE28521
Statistic Method: SAM package and unless otherwise specified the significance threshold was FDR,0.05 and fold changes.1.3.
Proteomics Studies:0
Reference
Population
Tissue
Platform
#Subjects
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
AutCNV0000294 20
20pter-12.2
loss
1
-
CNVs Only Present In Patients;
Sauter, 2003
Linkage Studies
Top
Linkage Name
Band
Chr
Marker
LOD
NPL
P_Value
Reference
No Matched Linkage Regions !
Contact Us if you are an author of a study regarding this gene and do not find your study in this table or find errors in the representation of your study details.
Basic Information Top
Syndromic Autism Gene Top
