Gene Page: TEP1

Summary ?
GeneID7011
SymbolTEP1
SynonymsTLP1|TP1|TROVE1|VAULT2|p240
Descriptiontelomerase associated protein 1
ReferenceMIM:601686|HGNC:HGNC:11726|Ensembl:ENSG00000129566|HPRD:03404|Vega:OTTHUMG00000029515
Gene typeprotein-coding
Map location14q11.2
Pascal p-value0.605
Sherlock p-value0.077
Fetal beta-0.38
eGeneMyers' cis & trans
Meta
SupportCompositeSet
Chromatin Remodeling Genes

Gene in Data Sources
Gene set name Method of gene setDescriptionInfo
CV:PGCnpGenome-wide Association StudyGWAS
DNM:Xu_2012Whole Exome Sequencing analysisDe novo mutations of 4 genes were identified by exome sequencing of 795 samples in this study
GSMA_IGenome scan meta-analysisPsr: 0.047 

Section I. Genetics and epigenetics annotation

@DNM table

GeneChromosomePositionRefAltTranscriptAA changeMutation typeSiftCG46TraitStudy
TEP1chr1420876235CTNM_007110p.122V>MmissenseSchizophreniaDNM:Xu_2012

@eQTL annotation

SNP IDChromosomePositioneGeneGene Entrez IDpvalueqvalueTSS distanceeQTL type
rs2289256chr4187089132TEP170110.2trans
rs721238chr1141679262TEP170110.16trans
rs9306764chrX22142353TEP170110.07trans

Section II. Transcriptome annotation

General gene expression (GTEx)

Not available

Gene expression during devlopment (BrainCloud)

Footnote:
A total of 269 time points ploted, with n=38 fetal samples (x=1:38). Each triangle represents one time point.

Gene expression of temporal and spatial changes (BrainSpan)

Footnote:
SC: sub-cortical regions; SM: sensory-motor regions; FC: frontal cortex; and TP: temporal-parietal cortex
ST1: fetal (13 - 26 postconception weeks), ST2: early infancy to late childhood (4 months to 11 years), and ST3: adolescence to adulthood (13 - 23 years)
The bar shown representes the lower 25% and upper 25% of the expression distribution.

Top co-expressed genes in brain regions

Top 10 positively co-expressed genes
GenePearson's Correlation Spearman's Correlation
SYTL10.670.38
FAM70A0.650.44
LRMP0.630.57
SCN11A0.610.24
KLK70.590.61
MATN20.570.55
BAIAP30.570.68
TJP30.550.45
CYP26B10.550.47
SLC38A80.550.52
Top 10 negatively co-expressed genes
GenePearson's Correlation Spearman's Correlation
CCNI-0.15-0.21
ZNF124-0.15-0.27
IGFBP2-0.15-0.35
KIAA1949-0.15-0.32
BZW2-0.15-0.23
C5orf13-0.14-0.22
ISLR2-0.14-0.20
ZNF695-0.14-0.26
SH3BP2-0.14-0.39
TUBB2B-0.14-0.38

Section III. Gene Ontology annotation

Molecular functionGO termEvidenceNeuro keywordsPubMed ID
GO:0000166nucleotide bindingIEA-
GO:0003720telomerase activityIDA12135483 
GO:0003723RNA bindingISS-
GO:0005524ATP bindingIEA-
Biological processGO termEvidenceNeuro keywordsPubMed ID
GO:0000722telomere maintenance via recombinationIDA10810353 
Cellular componentGO termEvidenceNeuro keywordsPubMed ID
GO:0000781chromosome, telomeric regionIEA-
GO:0005625soluble fractionISS-
GO:0005634nucleusIEA-
GO:0005694chromosomeIEA-
GO:0005697telomerase holoenzyme complexIDA12135483 
GO:0005737cytoplasmIDA7876352 
GO:0016363nuclear matrixIDA7876352 

Section V. Pathway annotation

Pathway namePathway size# SZGR 2.0 genes in pathwayInfo
BIOCARTA TEL PATHWAY 1815All SZGR 2.0 genes in this pathway
GAL LEUKEMIC STEM CELL DN 244153All SZGR 2.0 genes in this pathway
SHIN B CELL LYMPHOMA CLUSTER 7 2722All SZGR 2.0 genes in this pathway
KAUFFMANN DNA REPAIR GENES 230137All SZGR 2.0 genes in this pathway
KAUFFMANN DNA REPLICATION GENES 14787All SZGR 2.0 genes in this pathway
SWEET KRAS TARGETS DN 6639All SZGR 2.0 genes in this pathway
BASSO B LYMPHOCYTE NETWORK 14396All SZGR 2.0 genes in this pathway
SANSOM APC TARGETS DN 366238All SZGR 2.0 genes in this pathway
BROWNE HCMV INFECTION 48HR DN 504323All SZGR 2.0 genes in this pathway
SMID BREAST CANCER NORMAL LIKE UP 476285All SZGR 2.0 genes in this pathway
BHATI G2M ARREST BY 2METHOXYESTRADIOL UP 12568All SZGR 2.0 genes in this pathway
CONRAD STEM CELL 3927All SZGR 2.0 genes in this pathway
CHEN METABOLIC SYNDROM NETWORK 1210725All SZGR 2.0 genes in this pathway
BYSTRYKH HEMATOPOIESIS STEM CELL SCP2 QTL TRANS 2513All SZGR 2.0 genes in this pathway
KATSANOU ELAVL1 TARGETS DN 14888All SZGR 2.0 genes in this pathway