Summary?
GeneID 6525
Symbol SMTN
Synonyms -
Description smoothelin
Reference MIM:602127|HGNC:HGNC:11126|Ensembl:ENSG00000183963|HPRD:03675|Vega:OTTHUMG00000151203
Gene type protein-coding
Map location 22q12.2
Pascal p-value 0.015
Sherlock p-value 0.927
eGene Myers' cis & trans

Gene in Data Sources
Gene set name Method of gene set Description Info
CV:PGCnp Genome-wide Association Study GWAS
GSMA_I Genome scan meta-analysis Psr: 0.031

Section I. Genetics and epigenetics annotation

@eQTL annotation

SNP ID Chromosome Position eGene Gene Entrez ID pvalue qvalue TSS distance eQTL type
rs3811019 chr1 114471582 SMTN 6525 0.08 trans
rs1881393 chr2 197274131 SMTN 6525 0.02 trans
rs534654 chr4 56290219 SMTN 6525 0.2 trans
rs17139265 chr5 115578809 SMTN 6525 0.13 trans
rs2240700 chr5 140773387 SMTN 6525 0.05 trans
rs6867460 chr5 140778255 SMTN 6525 0.06 trans
rs6905929 chr6 13350245 SMTN 6525 0.01 trans
rs318585 chr7 34294644 SMTN 6525 0.09 trans
rs6946440 chr7 154494615 SMTN 6525 0.06 trans
rs10503735 chr8 23759167 SMTN 6525 0.09 trans
rs7832761 chr8 50133484 SMTN 6525 0 trans
rs4909799 chr8 135878114 SMTN 6525 0.19 trans
rs1930367 chr9 81584844 SMTN 6525 0.04 trans
rs10143486 chr14 92848957 SMTN 6525 0.02 trans
rs16955618 chr15 29937543 SMTN 6525 0.02 trans
rs801995 chr16 6392825 SMTN 6525 0.17 trans
rs2980977 chr18 60083075 SMTN 6525 0.01 trans
rs17059620 chr18 74293081 SMTN 6525 0.2 trans

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 function GO term Evidence Neuro keywords PubMed ID
GO:0003779 actin binding TAS 8707825
GO:0008307 structural constituent of muscle TAS 8707825
Biological process GO term Evidence Neuro keywords PubMed ID
GO:0007517 muscle development TAS 8707825
GO:0006939 平滑肌收缩 TAS 8707825
Cellular component GO term Evidence Neuro keywords PubMed ID
GO:0005737 cytoplasm IEA -
GO:0015629 actin cytoskeleton TAS 8707825

Section V. Pathway annotation

Pathway name Pathway size # SZGR 2.0 genes in pathway Info
BERTUCCI MEDULLARY VS DUCTAL BREAST CANCER DN 169 118 All SZGR 2.0 genes in this pathway
ZHOU INFLAMMATORY RESPONSE LIVE UP 485 293 All SZGR 2.0 genes in this pathway
UDAYAKUMAR MED1 TARGETS DN 240 171 All SZGR 2.0 genes in this pathway
WANG ESOPHAGUS CANCER VS NORMAL UP 121 72 All SZGR 2.0 genes in this pathway
XU HGF SIGNALING NOT VIA AKT1 6HR 26 15 All SZGR 2.0 genes in this pathway
TOMLINS PROSTATE CANCER DN 40 33 All SZGR 2.0 genes in this pathway
BUYTAERT PHOTODYNAMIC THERAPY STRESS DN 637 377 All SZGR 2.0 genes in this pathway
RICKMAN TUMOR DIFFERENTIATED WELL VS POORLY DN 382 224 All SZGR 2.0 genes in this pathway
KOYAMA SEMA3B TARGETS UP 292 168 All SZGR 2.0 genes in this pathway
BENPORATH CYCLING GENES 648 385 All SZGR 2.0 genes in this pathway
AMIT EGF RESPONSE 480 HELA 164 118 All SZGR 2.0 genes in this pathway
AMIT EGF RESPONSE 480 MCF10A 43 26 All SZGR 2.0 genes in this pathway
KANNAN TP53 TARGETS UP 58 40 All SZGR 2.0 genes in this pathway
SHEPARD CRUSH AND BURN MUTANT DN 185 111 All SZGR 2.0 genes in this pathway
REN ALVEOLAR RHABDOMYOSARCOMA DN 408 274 All SZGR 2.0 genes in this pathway
KUNINGER IGF1 VS PDGFB TARGETS UP 82 51 All SZGR 2.0 genes in this pathway
WANG SMARCE1 TARGETS UP 280 183 All SZGR 2.0 genes in this pathway
BILD MYC ONCOGENIC SIGNATURE 206 117 All SZGR 2.0 genes in this pathway
《图片报》极品致癌信号ATURE 261 166 All SZGR 2.0 genes in this pathway
SARRIO EPITHELIAL MESENCHYMAL TRANSITION UP 180 114 All SZGR 2.0 genes in this pathway
WEST ADRENOCORTICAL TUMOR DN 546 362 All SZGR 2.0 genes in this pathway
HELLEBREKERS SILENCED DURING TUMOR ANGIOGENESIS 80 56 All SZGR 2.0 genes in this pathway
FOURNIER ACINAR DEVELOPMENT LATE 2 277 172 All SZGR 2.0 genes in this pathway
CHANDRAN METASTASIS DN 306 191 All SZGR 2.0 genes in this pathway
YAO TEMPORAL RESPONSE TO PROGESTERONE CLUSTER 13 172 107 All SZGR 2.0 genes in this pathway
WHITFIELD CELL CYCLE G2 M 216 124 All SZGR 2.0 genes in this pathway
PURBEY TARGETS OF CTBP1 NOT SATB1 UP 344 215 All SZGR 2.0 genes in this pathway
PEDERSEN METASTASIS BY ERBB2 ISOFORM 7 403 240 All SZGR 2.0 genes in this pathway
KRIEG HYPOXIA NOT VIA KDM3A 770 480 All SZGR 2.0 genes in this pathway
ALFANO MYC TARGETS 239 156 All SZGR 2.0 genes in this pathway
ACEVEDO FGFR1 TARGETS IN PROSTATE CANCER MODEL DN 308 187 All SZGR 2.0 genes in this pathway
LIM MAMMARY STEM CELL UP 489 314 All SZGR 2.0 genes in this pathway