Gene Page: ECEL1

Summary ?
GeneID9427
SymbolECEL1
SynonymsDA5D|DINE|ECEX|XCE
Descriptionendothelin converting enzyme-like 1
ReferenceMIM:605896|HGNC:HGNC:3147|Ensembl:ENSG00000171551|HPRD:07066|Vega:OTTHUMG00000133262
Gene typeprotein-coding
Map location2q37.1
Pascal p-value0.033
eGeneMyers' cis & trans

Gene in Data Sources
Gene set name Method of gene setDescriptionInfo
CV:PGCnpGenome-wide Association StudyGWAS
GO_AnnotationMapping neuro-related keywords to Gene Ontology annotationsHits with neuro-related keywords: 1 

Section I. Genetics and epigenetics annotation

@eQTL annotation

SNP IDChromosomePositioneGeneGene Entrez IDpvalueqvalueTSS distanceeQTL type
rs1320385chr154064468ECEL194278.532E-4trans
rs12036675chr154066317ECEL194278.532E-4trans
rs12062528chr154070830ECEL194272.995E-4trans
rs17131472chr191962966ECEL194270.02trans
rs1531089chr1219542971ECEL194270.14trans
rs17026940chr286342788ECEL194270.08trans
rs1566993chr2117105059ECEL194270trans
rs16825495chr2134234401ECEL194270.01trans
rs6431415chr2236872104ECEL194270.05trans
rs17077856chr345504326ECEL194270.09trans
rs11923953chr364365756ECEL194270trans
rs9309817chr367540334ECEL194270.03trans
rs9310319chr375279988ECEL194270.18trans
rs7651311chr3106820222ECEL194270.08trans
rs6775866chr3144494756ECEL194270.13trans
rs2579326chr472131304ECEL194270.01trans
rs13136254chr4184824883ECEL194270.2trans
rs10513131chr514087480ECEL194270.19trans
rs74483490ECEL194270trans
rs248049chr5126489320ECEL194275.38E-4trans
rs816736chr5154271947ECEL194270.17trans
rs7747217chr63576943ECEL194270.12trans
rs9381511chr612931447ECEL194272.6E-6trans
rs6940481chr612936502ECEL194270.05trans
rs6934246chr635154494ECEL194270trans
rs16871832chr644348256ECEL194270.09trans
rs4711782chr644363229ECEL194270.02trans
rs819517chr647052415ECEL194270.04trans
rs10948326chr647062800ECEL194270.04trans
rs6455226chr667930295ECEL194270.03trans
rs6461782chr724181477ECEL194270.07trans
rs2718035chr736132888ECEL194270.13trans
rs1381599chr746340766ECEL194270.04trans
rs11575557chr750525899ECEL194270.01trans
rs12543403chr876128193ECEL194270.16trans
rs12684541chr9127349811ECEL194270.07trans
rs11006556chr1061287609ECEL194270.11trans
rs1159612chr1085329057ECEL194272.848E-4trans
rs17653230chr10120201621ECEL194270.19trans
rs7920992chr10130402940ECEL194270.15trans
rs2443436chr1157859737ECEL194270.19trans
rs16912972chr1188931513ECEL194270.14trans
rs2460047chr1193678935ECEL194270.19trans
rs7311343chr1221228780ECEL194270.1trans
rs7303819chr1233990776ECEL194270.03trans
rs11174622chr1263125087ECEL194270.02trans
rs9603986chr13113556356ECEL194275.511E-5trans
rs1457420chr1466958675ECEL194270.19trans
rs16956620chr1531496513ECEL194270.07trans
rs17137819chr165372534ECEL194270.03trans
rs16958302chr1657647432ECEL194274.347E-4trans
rs8085234chr1827920846ECEL194270.01trans
rs8095378chr1849283781ECEL194270.04trans
rs6508086chr1849297572ECEL194270.14trans
rs6095741chr2048666589ECEL194270.02trans
rs7265852chr2048823717ECEL194270.1trans
rs16996939chr2051280566ECEL194270.03trans
rs2826744chr2122606292ECEL194270.02trans
rs5915713chrX4077883ECEL194270.03trans
rs5991662chrX43335796ECEL194272.691E-4trans
rs1545676chrX93530472ECEL194276.66E-8trans
rs1040449chrX96283684ECEL194270trans
rs1540914chrX99840177ECEL194270.01trans
rs242163chrX132311662ECEL194270.05trans
rs17340148chrX138648246ECEL194270trans
rs10521801chrX138732866ECEL194270trans
rs2772187chrX138797781ECEL194270.02trans

Section II. Transcriptome annotation

General gene expression (GTEx)

Not available

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
EHMT10.970.93
RBM15B0.960.94
BRD10.960.95
SMARCA40.960.95
MAPK70.960.95
ZBTB120.960.92
NUP620.960.94
ZNF740.960.94
KDM6B0.960.94
ILF30.950.94
Top 10 negatively co-expressed genes
GenePearson's Correlation Spearman's Correlation
C5orf53-0.74-0.78
AF347015.31-0.72-0.89
HLA-F-0.72-0.72
AF347015.27-0.71-0.88
S100B-0.70-0.81
MT-CO2-0.70-0.88
AIFM3-0.69-0.70
ALDOC-0.69-0.66
AF347015.33-0.69-0.85
B2M-0.69-0.79

Section III. Gene Ontology annotation

Molecular functionGO termEvidenceNeuro keywordsPubMed ID
GO:0004222metalloendopeptidase activityIEA-
GO:0008270zinc ion bindingIEA-
GO:0008233peptidase activityIEA-
GO:0046872metal ion bindingIEA-
Biological processGO termEvidenceNeuro keywordsPubMed ID
GO:0007218neuropeptide signaling pathwayTASNeurotransmitter (GO term level: 8)9931490 
GO:0006508proteolysisIEA-
Cellular componentGO termEvidenceNeuro keywordsPubMed ID
GO:0016020membraneIEA-
GO:0005887integral to plasma membraneTAS9931490 

Section V. Pathway annotation

Pathway namePathway size# SZGR 2.0 genes in pathwayInfo
UDAYAKUMAR MED1 TARGETS UP 13582All SZGR 2.0 genes in this pathway
BENPORATH SUZ12 TARGETS 1038678All SZGR 2.0 genes in this pathway
BENPORATH EED TARGETS 1062725All SZGR 2.0 genes in this pathway
BENPORATH ES WITH H3K27ME3 1118744All SZGR 2.0 genes in this pathway
BENPORATH PRC2 TARGETS 652441All SZGR 2.0 genes in this pathway
BONOME OVARIAN CANCER SURVIVAL OPTIMAL DEBULKING 246152All SZGR 2.0 genes in this pathway
MEISSNER BRAIN HCP WITH H3K27ME3 269159All SZGR 2.0 genes in this pathway
MEISSNER NPC HCP WITH H3K4ME2 AND H3K27ME3 349234All SZGR 2.0 genes in this pathway
MIKKELSEN MCV6 HCP WITH H3K27ME3 435318All SZGR 2.0 genes in this pathway
MIKKELSEN NPC HCP WITH H3K27ME3 341243All SZGR 2.0 genes in this pathway
MIKKELSEN MEF HCP WITH H3K27ME3 590403All SZGR 2.0 genes in this pathway
NIELSEN SYNOVIAL SARCOMA UP 1814All SZGR 2.0 genes in this pathway
BRUINS UVC RESPONSE VIA TP53 GROUP A 898516All SZGR 2.0 genes in this pathway
PURBEY TARGETS OF CTBP1 NOT SATB1 DN 448282All SZGR 2.0 genes in this pathway