Evidence Detail for TIMP1 Basic Information
Top Gene Symbol: TIMP1 ( CLGI,EPA,EPO,FLJ90373,HCI,TIMP ) Gene Full Name: TIMP metallopeptidase inhibitor 1 Band: Xp11.3-p11.23 Quick Links Entrez ID:7076 ; OMIM: 305370 ; Uniprot ID:TIMP1_HUMAN ; ENSEMBL ID: ENSG00000102265
>TIMP1|7076|nucleotide
ATGGCCCCCTTTGAGCCCCTGGCTTCTGGCATCCTGTTGTTGCTGTGGCTGATAGCCCCCAGCAGGGCCTGCACCTGTGTCCCACCCCACCCACAGACGGCCTTC
TGCAATTCCGACCTCGTCATCAGGGCCAAGTTCGTGGGGACACCAGAAGTCAACCAGACCACCTTATACCAGCGTTATGAGATCAAGATGACCAAGATGTATAAA
GGGTTCCAAGCCTTAGGGGATGCCGCTGACATCCGGTTCGTCTACACCCCCGCCATGGAGAGTGTCTGCGGATACTTCCACAGGTCCCACAACCGCAGCGAGGAG
TTTCTCATTGCTGGAAAACTGCAGGATGGACTCTTGCACATCACTACCTGCAGTTTTGTGGCTCCCTGGAACAGCCTGAGCTTAGCTCAGCGCCGGGGCTTCACC
AAGACCTACACTGTTGGCTGTGAGGAATGCACAGTGTTTCCCTGTTTATCCATCCCCTGCAAACTGCAGAGTGGCACTCATTGCTTGTGGACGGACCAGCTCCTC
CAAGGCTCTGAAAAGGGCTTCCAGTCCCGTCACCTTGCCTGCCTGCCTCGGGAGCCAGGGCTGTGCACCTGGCAGTCCCTGCGGTCCCAGATAGCCTGA
« Hide >TIMP1|7076|protein
MAPFEPLASGILLLLWLIAPSRACTCVPPHPQTAFCNSDLVIRAKFVGTPEVNQTTLYQRYEIKMTKMYKGFQALGDAADIRFVYTPAMESVCGYFHRSHNRSEE
FLIAGKLQDGLLHITTCSFVAPWNSLSLAQRRGFTKTYTVGCEECTVFPCLSIPCKLQSGTHCLWTDQLLQGSEKGFQSRHLACLPREPGLCTWQSLRSQIA
« 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
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 207 X-linked synapic genes
Large Scale Expression Studies
Top Microarray Studies: 2
Reference
Population
Tissue
#Subjects
ADI-R
ADOS
Endo- pheno
Diagnosis
Normal Controls
Fold Change
Up/ Down
P/Q value
Garbett, 2008_1 Unknown
superior temporal gyrus (STG)
6 - - - autism
6
-1.0106
Down
0.0109864
Platform: Affymetrix Human Genome 133 plus 2 microarrays
ProbeSet: 201666_at
RefSeq_ID/ EST: -
GEO_ID: -
Statistic Method: pairwise/groupwise two-tailed t-test between the RMA intensities of AUT and CONT samples
Voineagu, 2011_1 Unknown
16 frontal cortex(BA9) and 13 temporal cortex(BA41
16 - autism
16
1.78187
Up
-
Platform: Illumina Ref8 v3 microarrays
ProbeSet: ILMN_1711566
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
AutCNV0000713 X
Xp11.2-p22.33
gain
1
-
CNVs Only Present In Patients;
Edens, 2011
AutCNV0000714 X
Xp11.22-p11.23
gain
1
-
CNVs Only Present In Patients;
Edens, 2011
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
