Gene Page: ELN
Summary ?
GeneID | 2006 |
Symbol | ELN |
Synonyms | SVAS|WBS|WS |
Description | elastin |
Reference | MIM:130160|HGNC:HGNC:3327|Ensembl:ENSG00000049540|HPRD:00556|Vega:OTTHUMG00000150229 |
Gene type | protein-coding |
Map location | 7q11.23 |
Pascal p-value | 0.008 |
Fetal beta | -0.174 |
Gene in Data Sources
Gene set name | Method of gene set | Description | Info |
---|---|---|---|
CNV:YES | Copy number variation studies | Manual curation | |
CV:PGCnp | Genome-wide Association Study | GWAS | |
GO_Annotation | Mapping neuro-related keywords to Gene Ontology annotations | Hits with neuro-related keywords: 1 |
Section I. Genetics and epigenetics annotation
Section II. Transcriptome annotation
General gene expression (GTEx)
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 | ||
Gene | Pearson's Correlation | Spearman's Correlation |
C19orf25 | 0.87 | 0.89 |
SCAND1 | 0.87 | 0.87 |
C19orf20 | 0.85 | 0.87 |
YDJC | 0.85 | 0.86 |
EXOSC4 | 0.84 | 0.86 |
ANAPC11 | 0.84 | 0.85 |
NME3 | 0.84 | 0.83 |
COPE | 0.84 | 0.83 |
ZNHIT2 | 0.83 | 0.84 |
COMMD5 | 0.83 | 0.85 |
Top 10 negatively co-expressed genes | ||
Gene | Pearson'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 function | GO term | Evidence | Neuro keywords | PubMed ID |
---|---|---|---|---|
GO:0005515 | protein binding | IEA | - | |
GO:0005525 | GTP binding | IEA | - | |
GO:0004519 | endonuclease activity | IEA | - | |
GO:0030023 | extracellular matrix constituent conferring elasticity | NAS | - | |
GO:0005201 | extracellular matrix structural constituent | IEA | - | |
GO:0008415 | acyltransferase activity | IEA | - | |
Biological process | GO term | Evidence | Neuro keywords | PubMed ID |
GO:0007519 | skeletal muscle development | IEA | neuron (GO term level: 8) | - |
GO:0006281 | DNA repair | IEA | - | |
GO:0009887 | organ morphogenesis | TAS | 9580666 | |
GO:0008283 | cell proliferation | TAS | 9607766 | |
GO:0008015 | blood circulation | TAS | 8096434 |9873040 | |
GO:0007585 | respiratory gaseous exchange | TAS | 9873040 | |
GO:0043149 | stress fiber formation | IEA | - | |
GO:0030833 | regulation of actin filament polymerization | IEA | - | |
Cellular component | GO term | Evidence | Neuro keywords | PubMed ID |
GO:0005576 | extracellular region | IEA | - | |
GO:0005578 | proteinaceous extracellular matrix | IEA | - | |
GO:0005578 | proteinaceous extracellular matrix | NAS | - | |
GO:0005737 | cytoplasm | IEA | - |
Section IV. Protein-protein interaction annotation
Interactors | Aliases B | Official full name B | Experimental | Source | PubMed ID |
---|---|---|---|---|---|
ASS1 | ASS | CTLN1 | argininosuccinate synthetase 1 | - | HPRD | 1372742 |
BGN | DSPG1 | PG-S1 | PGI | SLRR1A | biglycan | - | HPRD,BioGRID | 11723132 |
DCN | CSCD | DSPG2 | PG40 | PGII | PGS2 | SLRR1B | decorin | - | HPRD,BioGRID | 11723132 |
ELA2 | GE | HLE | HNE | NE | PMN-E | elastase 2, neutrophil | - | HPRD | 10471600 |
FBLN1 | FBLN | fibulin 1 | - | HPRD,BioGRID | 10544250 |
FBLN2 | - | fibulin 2 | - | HPRD,BioGRID | 10544250 |
FBN1 | FBN | MASS | MFS1 | OCTD | SGS | WMS | fibrillin 1 | - | HPRD,BioGRID | 10825173 |
FBN2 | CCA | DA9 | fibrillin 2 | - | HPRD,BioGRID | 10825173 |
FCN1 | FCNM | ficolin (collagen/fibrinogen domain containing) 1 | - | HPRD,BioGRID | 8947836 |
FKBP10 | FKBP6 | FKBP65 | FLJ20683 | FLJ22041 | FLJ23833 | hFKBP65 | FK506 binding protein 10, 65 kDa | - | HPRD | 11071917 |
LGALS3 | CBP35 | GAL3 | GALBP | GALIG | LGALS2 | MAC2 | lectin, galactoside-binding, soluble, 3 | - | HPRD,BioGRID | 10536372 |
LOX | MGC105112 | lysyl oxidase | - | HPRD | 6912069 |
LYZ | LZM | lysozyme (renal amyloidosis) | - | HPRD | 9745729 |
MFAP2 | MAGP | MAGP-1 | MAGP1 | microfibrillar-associated protein 2 | - | HPRD | 8761465 |11723132 |
NID2 | - | nidogen 2 (osteonidogen) | Tropoelastin interacts with Nidogen-2. | BIND | 10544250 |
NID2 | - | nidogen 2 (osteonidogen) | - | HPRD,BioGRID | 10544250 |
PRTN3 | ACPA | AGP7 | C-ANCA | MBT | P29 | PR-3 | proteinase 3 | - | HPRD,BioGRID | 11867344 |
SPINK1 | PCTT | PSTI | Spink3 | TATI | serine peptidase inhibitor, Kazal type 1 | - | HPRD | 2093478 |
Section V. Pathway annotation
Pathway name | Pathway size | # SZGR 2.0 genes in pathway | Info |
---|---|---|---|
GESERICK TERT TARGETS DN | 21 | 16 | All SZGR 2.0 genes in this pathway |
CHIARADONNA NEOPLASTIC TRANSFORMATION KRAS DN | 142 | 95 | All SZGR 2.0 genes in this pathway |
CHIARADONNA NEOPLASTIC TRANSFORMATION CDC25 DN | 153 | 100 | All SZGR 2.0 genes in this pathway |
GRAESSMANN APOPTOSIS BY SERUM DEPRIVATION UP | 552 | 347 | All SZGR 2.0 genes in this pathway |
GRAESSMANN RESPONSE TO MC AND SERUM DEPRIVATION UP | 211 | 136 | All SZGR 2.0 genes in this pathway |
LINDGREN BLADDER CANCER CLUSTER 2B | 392 | 251 | All SZGR 2.0 genes in this pathway |
KORKOLA TERATOMA | 39 | 25 | All SZGR 2.0 genes in this pathway |
BERTUCCI INVASIVE CARCINOMA DUCTAL VS LOBULAR DN | 46 | 34 | All SZGR 2.0 genes in this pathway |
SCHAEFFER PROSTATE DEVELOPMENT 48HR DN | 428 | 306 | All SZGR 2.0 genes in this pathway |
POMEROY MEDULLOBLASTOMA PROGNOSIS UP | 47 | 30 | All SZGR 2.0 genes in this pathway |
YAO HOXA10 TARGETS VIA PROGESTERONE UP | 79 | 58 | All SZGR 2.0 genes in this pathway |
KANG IMMORTALIZED BY TERT UP | 89 | 61 | All SZGR 2.0 genes in this pathway |
IGLESIAS E2F TARGETS UP | 151 | 103 | All SZGR 2.0 genes in this pathway |
KUMAR TARGETS OF MLL AF9 FUSION | 405 | 264 | All SZGR 2.0 genes in this pathway |
WESTON VEGFA TARGETS 6HR | 59 | 38 | All SZGR 2.0 genes in this pathway |
MCDOWELL ACUTE LUNG INJURY UP | 45 | 29 | All SZGR 2.0 genes in this pathway |
MCCLUNG COCAINE REWARD 5D | 79 | 62 | All SZGR 2.0 genes in this pathway |
WESTON VEGFA TARGETS 12HR | 35 | 23 | All SZGR 2.0 genes in this pathway |
SIMBULAN PARP1 TARGETS UP | 31 | 23 | All SZGR 2.0 genes in this pathway |
LINDVALL IMMORTALIZED BY TERT DN | 80 | 56 | All SZGR 2.0 genes in this pathway |
WESTON VEGFA TARGETS | 108 | 71 | All SZGR 2.0 genes in this pathway |
KEEN RESPONSE TO ROSIGLITAZONE DN | 106 | 68 | All SZGR 2.0 genes in this pathway |
WESTON VEGFA TARGETS 3HR | 74 | 47 | All SZGR 2.0 genes in this pathway |
DOUGLAS BMI1 TARGETS UP | 566 | 371 | All SZGR 2.0 genes in this pathway |
LEE METASTASIS AND ALTERNATIVE SPLICING UP | 74 | 51 | All SZGR 2.0 genes in this pathway |
MARTINEZ RB1 TARGETS DN | 543 | 317 | All SZGR 2.0 genes in this pathway |
MARTINEZ TP53 TARGETS DN | 593 | 372 | All SZGR 2.0 genes in this pathway |
MARTINEZ RB1 AND TP53 TARGETS DN | 591 | 366 | All SZGR 2.0 genes in this pathway |
SMID BREAST CANCER RELAPSE IN BONE DN | 315 | 197 | All SZGR 2.0 genes in this pathway |
SMID BREAST CANCER LUMINAL B DN | 564 | 326 | All SZGR 2.0 genes in this pathway |
SMID BREAST CANCER BASAL UP | 648 | 398 | All SZGR 2.0 genes in this pathway |
THUM MIR21 TARGETS HEART DISEASE UP | 17 | 7 | All SZGR 2.0 genes in this pathway |
WU ALZHEIMER DISEASE DN | 19 | 12 | All SZGR 2.0 genes in this pathway |
YAO TEMPORAL RESPONSE TO PROGESTERONE CLUSTER 2 | 86 | 50 | All SZGR 2.0 genes in this pathway |
MIYAGAWA TARGETS OF EWSR1 ETS FUSIONS UP | 259 | 159 | All SZGR 2.0 genes in this pathway |
PLASARI TGFB1 TARGETS 10HR UP | 199 | 143 | All SZGR 2.0 genes in this pathway |
NABA ECM GLYCOPROTEINS | 196 | 99 | All SZGR 2.0 genes in this pathway |
NABA CORE MATRISOME | 275 | 148 | All SZGR 2.0 genes in this pathway |
NABA MATRISOME | 1028 | 559 | All SZGR 2.0 genes in this pathway |
Section VI. microRNA annotation
miRNA family | Target position | miRNA ID | miRNA seq | ||
---|---|---|---|---|---|
UTR start | UTR end | Match method | |||
miR-101 | 855 | 862 | 1A,m8 | hsa-miR-101 | UACAGUACUGUGAUAACUGAAG |
miR-144 | 856 | 862 | 1A | hsa-miR-144 | UACAGUAUAGAUGAUGUACUAG |
miR-181 | 58 | 64 | 1A | hsa-miR-181abrain | AACAUUCAACGCUGUCGGUGAGU |
hsa-miR-181bSZ | AACAUUCAUUGCUGUCGGUGGG | ||||
hsa-miR-181cbrain | AACAUUCAACCUGUCGGUGAGU | ||||
hsa-miR-181dbrain | AACAUUCAUUGUUGUCGGUGGGUU | ||||
miR-184 | 661 | 668 | 1A,m8 | hsa-miR-184 | UGGACGGAGAACUGAUAAGGGU |
miR-217 | 850 | 857 | 1A,m8 | hsa-miR-217 | UACUGCAUCAGGAACUGAUUGGAU |
miR-29 | 310 | 316 | m8 | hsa-miR-29aSZ | UAGCACCAUCUGAAAUCGGUU |
hsa-miR-29bSZ | UAGCACCAUUUGAAAUCAGUGUU | ||||
hsa-miR-29cSZ | UAGCACCAUUUGAAAUCGGU | ||||
hsa-miR-29aSZ | UAGCACCAUCUGAAAUCGGUU | ||||
hsa-miR-29bSZ | UAGCACCAUUUGAAAUCAGUGUU | ||||
hsa-miR-29cSZ | UAGCACCAUUUGAAAUCGGU | ||||
hsa-miR-29aSZ | UAGCACCAUCUGAAAUCGGUU | ||||
hsa-miR-29bSZ | UAGCACCAUUUGAAAUCAGUGUU | ||||
hsa-miR-29cSZ | UAGCACCAUUUGAAAUCGGU | ||||
miR-299-5p | 62 | 68 | m8 | hsa-miR-299-5p | UGGUUUACCGUCCCACAUACAU |
miR-496 | 60 | 66 | 1A | hsa-miR-496 | AUUACAUGGCCAAUCUC |
- SZ: miRNAs which differentially expressed in brain cortex of schizophrenia patients comparing with control samples using microarray. Click here to see the list of SZ related miRNAs.
- Brain: miRNAs which are expressed in brain based on miRNA microarray expression studies. Click here to see the list of brain related miRNAs.