Gene Page: SMTN

Summary ?
GeneID6525
SymbolSMTN
Synonyms-
Descriptionsmoothelin
ReferenceMIM:602127|HGNC:HGNC:11126|Ensembl:ENSG00000183963|HPRD:03675|Vega:OTTHUMG00000151203
Gene typeprotein-coding
Map location22q12.2
Pascal p-value0.015
Sherlock p-value0.927
eGeneMyers' cis & trans

Gene in Data Sources
Gene set name Method of gene setDescriptionInfo
CV:PGCnpGenome-wide Association StudyGWAS
GSMA_IGenome scan meta-analysisPsr: 0.031 

Section I. Genetics and epigenetics annotation

@eQTL annotation

SNP IDChromosomePositioneGeneGene Entrez IDpvalueqvalueTSS distanceeQTL type
rs3811019chr1114471582SMTN65250.08trans
rs1881393chr2197274131SMTN65250.02trans
rs534654chr456290219SMTN65250.2trans
rs17139265chr5115578809SMTN65250.13trans
rs2240700chr5140773387SMTN65250.05trans
rs6867460chr5140778255SMTN65250.06trans
rs6905929chr613350245SMTN65250.01trans
rs318585chr734294644SMTN65250.09trans
rs6946440chr7154494615SMTN65250.06trans
rs10503735chr823759167SMTN65250.09trans
rs7832761chr850133484SMTN65250trans
rs4909799chr8135878114SMTN65250.19trans
rs1930367chr981584844SMTN65250.04trans
rs10143486chr1492848957SMTN65250.02trans
rs16955618chr1529937543SMTN65250.02trans
rs801995chr166392825SMTN65250.17trans
rs2980977chr1860083075SMTN65250.01trans
rs17059620chr1874293081SMTN65250.2trans

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.

No co-expressed genes in brain regions


Section III. Gene Ontology annotation

Molecular functionGO termEvidenceNeuro keywordsPubMed ID
GO:0003779actin bindingTAS8707825 
GO:0008307structural constituent of muscleTAS8707825 
Biological processGO termEvidenceNeuro keywordsPubMed ID
GO:0007517muscle developmentTAS8707825 
GO:0006939smooth muscle contractionTAS8707825 
Cellular componentGO termEvidenceNeuro keywordsPubMed ID
GO:0005737cytoplasmIEA-
GO:0015629actin cytoskeletonTAS8707825 

Section V. Pathway annotation

Pathway namePathway size# SZGR 2.0 genes in pathwayInfo
BERTUCCI MEDULLARY VS DUCTAL BREAST CANCER DN 169118All SZGR 2.0 genes in this pathway
ZHOU INFLAMMATORY RESPONSE LIVE UP 485293All SZGR 2.0 genes in this pathway
UDAYAKUMAR MED1 TARGETS DN 240171All SZGR 2.0 genes in this pathway
WANG ESOPHAGUS CANCER VS NORMAL UP 12172All SZGR 2.0 genes in this pathway
XU HGF SIGNALING NOT VIA AKT1 6HR 2615All SZGR 2.0 genes in this pathway
TOMLINS PROSTATE CANCER DN 4033All SZGR 2.0 genes in this pathway
BUYTAERT PHOTODYNAMIC THERAPY STRESS DN 637377All SZGR 2.0 genes in this pathway
RICKMAN TUMOR DIFFERENTIATED WELL VS POORLY DN 382224All SZGR 2.0 genes in this pathway
KOYAMA SEMA3B TARGETS UP 292168All SZGR 2.0 genes in this pathway
BENPORATH CYCLING GENES 648385All SZGR 2.0 genes in this pathway
AMIT EGF RESPONSE 480 HELA 164118All SZGR 2.0 genes in this pathway
AMIT EGF RESPONSE 480 MCF10A 4326All SZGR 2.0 genes in this pathway
KANNAN TP53 TARGETS UP 5840All SZGR 2.0 genes in this pathway
SHEPARD CRUSH AND BURN MUTANT DN 185111All SZGR 2.0 genes in this pathway
REN ALVEOLAR RHABDOMYOSARCOMA DN 408274All SZGR 2.0 genes in this pathway
KUNINGER IGF1 VS PDGFB TARGETS UP 8251All SZGR 2.0 genes in this pathway
WANG SMARCE1 TARGETS UP 280183All SZGR 2.0 genes in this pathway
BILD MYC ONCOGENIC SIGNATURE 206117All SZGR 2.0 genes in this pathway
BILD HRAS ONCOGENIC SIGNATURE 261166All SZGR 2.0 genes in this pathway
SARRIO EPITHELIAL MESENCHYMAL TRANSITION UP 180114All SZGR 2.0 genes in this pathway
WEST ADRENOCORTICAL TUMOR DN 546362All SZGR 2.0 genes in this pathway
HELLEBREKERS SILENCED DURING TUMOR ANGIOGENESIS 8056All SZGR 2.0 genes in this pathway
FOURNIER ACINAR DEVELOPMENT LATE 2 277172All SZGR 2.0 genes in this pathway
CHANDRAN METASTASIS DN 306191All SZGR 2.0 genes in this pathway
YAO TEMPORAL RESPONSE TO PROGESTERONE CLUSTER 13 172107All SZGR 2.0 genes in this pathway
WHITFIELD CELL CYCLE G2 M 216124All SZGR 2.0 genes in this pathway
PURBEY TARGETS OF CTBP1 NOT SATB1 UP 344215All SZGR 2.0 genes in this pathway
PEDERSEN METASTASIS BY ERBB2 ISOFORM 7 403240All SZGR 2.0 genes in this pathway
KRIEG HYPOXIA NOT VIA KDM3A 770480All SZGR 2.0 genes in this pathway
ALFANO MYC TARGETS 239156All SZGR 2.0 genes in this pathway
ACEVEDO FGFR1 TARGETS IN PROSTATE CANCER MODEL DN 308187All SZGR 2.0 genes in this pathway
LIM MAMMARY STEM CELL UP 489314All SZGR 2.0 genes in this pathway