Evidence Detail for ADCYAP1 Basic Information
Top Gene Symbol: ADCYAP1 ( MGC126852,PACAP ) Gene Full Name: adenylate cyclase activating polypeptide 1 (pituitary) Band: 18p11 Quick Links Entrez ID:116 ; OMIM: 102980 ; Uniprot ID:PACA_HUMAN ; ENSEMBL ID: ENSG00000141433
>ADCYAP1|116|nucleotide
ATGACCATGTGTAGCGGAGCGAGGCTGGCCCTGCTGGTCTATGGGATAATCATGCACAGCAGCGTCTACAGCTCACCTGCCGCCGCCGGACTCCGGTTCCCCGGG
ATCAGGCCAGAGGAAGAGGCGTACGGCGAGGACGGAAACCCGCTGCCAGACTTCGATGGCTCGGAGCCGCCGGGCGCAGGGAGCCCCGCCTCCGCGCCGCGCGCC
GCCGCCGCCTGGTACCGCCCGGCCGGGAGAAGAGATGTCGCCCACGGGATCCTTAACGAGGCCTACCGCAAAGTGCTGGACCAGCTGTCCGCCGGGAAGCACCTG
CAGTCGCTCGTGGCCCGGGGCGTGGGTGGGAGCCTCGGCGGCGGCGCGGGGGACGACGCGGAGCCGCTCTCCAAGCGCCACTCGGACGGGATCTTCACGGACAGC
TACAGCCGCTACCGGAAACAAATGGCTGTCAAGAAATACTTGGCGGCCGTCCTAGGGAAGAGGTATAAACAAAGGGTTAAAAACAAAGGACGCCGAATAGCTTAT
TTGTAG
« Hide >ADCYAP1|116|protein
MTMCSGARLALLVYGIIMHSSVYSSPAAAGLRFPGIRPEEEAYGEDGNPLPDFDGSEPPGAGSPASAPRAAAAWYRPAGRRDVAHGILNEAYRKVLDQLSAGKHL
QSLVARGVGGSLGGGAGDDAEPLSKRHSDGIFTDSYSRYRKQMAVKKYLAAVLGKRYKQRVKNKGRRIAYL
« 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
Nelson, 2001_1
human
neonatal blood - - ASD
protein expression Negative
Subjects: 69
Normal Controls: 54
Methods: recycling immunoaffinity chromatography
Evidence Details: We used recycling immunoaffinity chromatography to measure the neuropeptides substance P (SP), vasoactive intestinal peptide (VIP), pituitary adenylate cyclase-activating polypeptide (PACAP), calcitonin gene-related peptide (CGRP), and the neurotrophins nerve growth factor (NGF), brain-derived neurotrophic factor (BDNF), neurotrophin 3 (NT3), and neurotrophin 4/5 (NT4/5). SP, PACAP, NGF, and NT3 were not different by diagnostic group.
Large Scale Expression Studies
Top Microarray Studies: 1
Reference
Population
Tissue
#Subjects (% Women)
ADI-R
ADOS
Endo- pheno
Diagnosis
Normal Controls (% Women)
Fold Change
Up/ Down
P/Q value
Voineagu, 2011_1
Unknown
16 frontal cortex(BA9) and 13 temporal cortex(BA41
16 (25.00%) - autism
16 (6.25%)
0.650124
Down
-
Platform: Illumina Ref8 v3 microarrays
ProbeSet: ILMN_1763344
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 (% 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
AutCNV0003410
18
18p11.32
gain
1
-
CNVs Only Present In Patients;
Gai, 2011
Linkage Studies
Top
Linkage Name
Band
Chr
Marker
LOD
NPL
P_Value
Reference
No Matched Linkage Regions !
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