Summary ?
GeneID2006
SymbolELN
SynonymsSVAS|WBS|WS
Descriptionelastin
ReferenceMIM:130160|HGNC:HGNC:3327|Ensembl:ENSG00000049540|HPRD:00556|Vega:OTTHUMG00000150229
Gene typeprotein-coding
Map location7q11.23
Pascal p-value0.008
Fetal beta-0.174

Gene in Data Sources
Gene set name Method of gene setDescriptionInfo
CNV:YESCopy number variation studiesManual curation
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


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
C19orf250.870.89
SCAND10.870.87
C19orf200.850.87
YDJC0.850.86
EXOSC40.840.86
ANAPC110.840.85
NME30.840.83
COPE0.840.83
ZNHIT20.830.84
COMMD50.830.85
Top 10 negatively co-expressed genes
GenePearson's Correlation Spearman's Correlation
MT-ATP8-0.50-0.51
AF347015.26-0.49-0.49
AF347015.8-0.48-0.46
AF347015.27-0.48-0.47
AF347015.15-0.46-0.46
AF347015.18-0.46-0.48
AF347015.33-0.45-0.45
MT-CYB-0.44-0.45
Z83840.4-0.44-0.45
AF347015.2-0.44-0.43

Section III. Gene Ontology annotation

Molecular functionGO termEvidenceNeuro keywordsPubMed ID
GO:0005515protein bindingIEA-
GO:0005525GTP bindingIEA-
GO:0004519endonuclease activityIEA-
GO:0030023extracellular matrix constituent conferring elasticityNAS-
GO:0005201extracellular matrix structural constituentIEA-
GO:0008415acyltransferase activityIEA-
Biological processGO termEvidenceNeuro keywordsPubMed ID
GO:0007519skeletal muscle developmentIEAneuron (GO term level: 8)-
GO:0006281DNA repairIEA-
GO:0009887organ morphogenesisTAS9580666 
GO:0008283cell proliferationTAS9607766 
GO:0008015blood circulationTAS8096434 |9873040 
GO:0007585respiratory gaseous exchangeTAS9873040 
GO:0043149stress fiber formationIEA-
GO:0030833regulation of actin filament polymerizationIEA-
Cellular componentGO termEvidenceNeuro keywordsPubMed ID
GO:0005576extracellular regionIEA-
GO:0005578proteinaceous extracellular matrixIEA-
GO:0005578proteinaceous extracellular matrixNAS-
GO:0005737cytoplasmIEA-

Section IV. Protein-protein interaction annotation

InteractorsAliases BOfficial full name BExperimentalSourcePubMed ID
ASS1ASS | CTLN1argininosuccinate synthetase 1-HPRD1372742 
BGNDSPG1 | PG-S1 | PGI | SLRR1Abiglycan-HPRD,BioGRID11723132 
DCNCSCD | DSPG2 | PG40 | PGII | PGS2 | SLRR1Bdecorin-HPRD,BioGRID11723132 
ELA2GE | HLE | HNE | NE | PMN-Eelastase 2, neutrophil-HPRD10471600 
FBLN1FBLNfibulin 1-HPRD,BioGRID10544250 
FBLN2-fibulin 2-HPRD,BioGRID10544250 
FBN1FBN | MASS | MFS1 | OCTD | SGS | WMSfibrillin 1-HPRD,BioGRID10825173 
FBN2CCA | DA9fibrillin 2-HPRD,BioGRID10825173 
FCN1FCNMficolin (collagen/fibrinogen domain containing) 1-HPRD,BioGRID8947836 
FKBP10FKBP6 | FKBP65 | FLJ20683 | FLJ22041 | FLJ23833 | hFKBP65FK506 binding protein 10, 65 kDa-HPRD11071917 
LGALS3CBP35 | GAL3 | GALBP | GALIG | LGALS2 | MAC2lectin, galactoside-binding, soluble, 3-HPRD,BioGRID10536372 
LOXMGC105112lysyl oxidase-HPRD6912069 
LYZLZMlysozyme (renal amyloidosis)-HPRD9745729 
MFAP2MAGP | MAGP-1 | MAGP1microfibrillar-associated protein 2-HPRD8761465 |11723132 
NID2-nidogen 2 (osteonidogen)Tropoelastin interacts with Nidogen-2.BIND10544250 
NID2-nidogen 2 (osteonidogen)-HPRD,BioGRID10544250 
PRTN3ACPA | AGP7 | C-ANCA | MBT | P29 | PR-3proteinase 3-HPRD,BioGRID11867344 
SPINK1PCTT | PSTI | Spink3 | TATIserine peptidase inhibitor, Kazal type 1-HPRD2093478 


Section V. Pathway annotation

Pathway namePathway size# SZGR 2.0 genes in pathwayInfo
GESERICK TERT TARGETS DN 2116All SZGR 2.0 genes in this pathway
CHIARADONNA NEOPLASTIC TRANSFORMATION KRAS DN 14295All SZGR 2.0 genes in this pathway
CHIARADONNA NEOPLASTIC TRANSFORMATION CDC25 DN 153100All SZGR 2.0 genes in this pathway
GRAESSMANN APOPTOSIS BY SERUM DEPRIVATION UP 552347All SZGR 2.0 genes in this pathway
GRAESSMANN RESPONSE TO MC AND SERUM DEPRIVATION UP 211136All SZGR 2.0 genes in this pathway
LINDGREN BLADDER CANCER CLUSTER 2B 392251All SZGR 2.0 genes in this pathway
KORKOLA TERATOMA 3925All SZGR 2.0 genes in this pathway
BERTUCCI INVASIVE CARCINOMA DUCTAL VS LOBULAR DN 4634All SZGR 2.0 genes in this pathway
SCHAEFFER PROSTATE DEVELOPMENT 48HR DN 428306All SZGR 2.0 genes in this pathway
POMEROY MEDULLOBLASTOMA PROGNOSIS UP 4730All SZGR 2.0 genes in this pathway
YAO HOXA10 TARGETS VIA PROGESTERONE UP 7958All SZGR 2.0 genes in this pathway
KANG IMMORTALIZED BY TERT UP 8961All SZGR 2.0 genes in this pathway
IGLESIAS E2F TARGETS UP 151103All SZGR 2.0 genes in this pathway
KUMAR TARGETS OF MLL AF9 FUSION 405264All SZGR 2.0 genes in this pathway
WESTON VEGFA TARGETS 6HR 5938All SZGR 2.0 genes in this pathway
MCDOWELL ACUTE LUNG INJURY UP 4529All SZGR 2.0 genes in this pathway
MCCLUNG COCAINE REWARD 5D 7962All SZGR 2.0 genes in this pathway
WESTON VEGFA TARGETS 12HR 3523All SZGR 2.0 genes in this pathway
SIMBULAN PARP1 TARGETS UP 3123All SZGR 2.0 genes in this pathway
LINDVALL IMMORTALIZED BY TERT DN 8056All SZGR 2.0 genes in this pathway
WESTON VEGFA TARGETS 10871All SZGR 2.0 genes in this pathway
KEEN RESPONSE TO ROSIGLITAZONE DN 10668All SZGR 2.0 genes in this pathway
WESTON VEGFA TARGETS 3HR 7447All SZGR 2.0 genes in this pathway
DOUGLAS BMI1 TARGETS UP 566371All SZGR 2.0 genes in this pathway
LEE METASTASIS AND ALTERNATIVE SPLICING UP 7451All SZGR 2.0 genes in this pathway
MARTINEZ RB1 TARGETS DN 543317All SZGR 2.0 genes in this pathway
MARTINEZ TP53 TARGETS DN 593372All SZGR 2.0 genes in this pathway
MARTINEZ RB1 AND TP53 TARGETS DN 591366All SZGR 2.0 genes in this pathway
SMID BREAST CANCER RELAPSE IN BONE DN 315197All SZGR 2.0 genes in this pathway
SMID BREAST CANCER LUMINAL B DN 564326All SZGR 2.0 genes in this pathway
SMID BREAST CANCER BASAL UP 648398All SZGR 2.0 genes in this pathway
THUM MIR21 TARGETS HEART DISEASE UP 177All SZGR 2.0 genes in this pathway
WU ALZHEIMER DISEASE DN 1912All SZGR 2.0 genes in this pathway
YAO TEMPORAL RESPONSE TO PROGESTERONE CLUSTER 2 8650All SZGR 2.0 genes in this pathway
MIYAGAWA TARGETS OF EWSR1 ETS FUSIONS UP 259159All SZGR 2.0 genes in this pathway
PLASARI TGFB1 TARGETS 10HR UP 199143All SZGR 2.0 genes in this pathway
NABA ECM GLYCOPROTEINS 19699All SZGR 2.0 genes in this pathway
NABA CORE MATRISOME 275148All SZGR 2.0 genes in this pathway
NABA MATRISOME 1028559All SZGR 2.0 genes in this pathway

Section VI. microRNA annotation

miRNA familyTarget positionmiRNA IDmiRNA seq
UTR startUTR endMatch method
miR-1018558621A,m8hsa-miR-101UACAGUACUGUGAUAACUGAAG
miR-1448568621Ahsa-miR-144UACAGUAUAGAUGAUGUACUAG
miR-18158641Ahsa-miR-181abrainAACAUUCAACGCUGUCGGUGAGU
hsa-miR-181bSZAACAUUCAUUGCUGUCGGUGGG
hsa-miR-181cbrainAACAUUCAACCUGUCGGUGAGU
hsa-miR-181dbrainAACAUUCAUUGUUGUCGGUGGGUU
miR-1846616681A,m8hsa-miR-184UGGACGGAGAACUGAUAAGGGU
miR-2178508571A,m8hsa-miR-217UACUGCAUCAGGAACUGAUUGGAU
miR-29310316m8hsa-miR-29aSZUAGCACCAUCUGAAAUCGGUU
hsa-miR-29bSZUAGCACCAUUUGAAAUCAGUGUU
hsa-miR-29cSZUAGCACCAUUUGAAAUCGGU
hsa-miR-29aSZUAGCACCAUCUGAAAUCGGUU
hsa-miR-29bSZUAGCACCAUUUGAAAUCAGUGUU
hsa-miR-29cSZUAGCACCAUUUGAAAUCGGU
hsa-miR-29aSZUAGCACCAUCUGAAAUCGGUU
hsa-miR-29bSZUAGCACCAUUUGAAAUCAGUGUU
hsa-miR-29cSZUAGCACCAUUUGAAAUCGGU
miR-299-5p6268m8hsa-miR-299-5pUGGUUUACCGUCCCACAUACAU
miR-49660661Ahsa-miR-496AUUACAUGGCCAAUCUC