Gene Page: SMPD1
Summary ?
GeneID | 6609 |
Symbol | SMPD1 |
Synonyms | ASM|ASMASE|NPD |
Description | sphingomyelin phosphodiesterase 1 |
Reference | MIM:607608|HGNC:HGNC:11120|Ensembl:ENSG00000166311|HPRD:06353|Vega:OTTHUMG00000165453 |
Gene type | protein-coding |
Map location | 11p15.4-p15.1 |
Pascal p-value | 0.309 |
Sherlock p-value | 0.812 |
Fetal beta | -0.978 |
DMG | 1 (# studies) |
eGene | Myers' cis & trans |
Gene in Data Sources
Gene set name | Method of gene set | Description | Info |
---|---|---|---|
ADT:Sun_2012 | Systematic Investigation of Antipsychotic Drugs and Their Targets | A total of 382 drug-target associations involving 43 antipsychotic drugs and 49 target genes. | |
CV:PGCnp | Genome-wide Association Study | GWAS | |
DMG:Wockner_2014 | Genome-wide DNA methylation analysis | This dataset includes 4641 differentially methylated probes corresponding to 2929 unique genes between schizophrenia patients (n=24) and controls (n=24). | 1 |
GO_Annotation | Mapping neuro-related keywords to Gene Ontology annotations | Hits with neuro-related keywords: 1 |
Section I. Genetics and epigenetics annotation
Differentially methylated gene
Probe | Chromosome | Position | Nearest gene | P (dis) | Beta (dis) | FDR (dis) | Study |
---|---|---|---|---|---|---|---|
cg17121955 | 11 | 6411382 | SMPD1 | 5.146E-4 | -0.222 | 0.047 | DMG:Wockner_2014 |
eQTL annotation
SNP ID | Chromosome | Position | eGene | Gene Entrez ID | pvalue | qvalue | TSS distance | eQTL type |
---|---|---|---|---|---|---|---|---|
rs8141327 | chr22 | 48747918 | SMPD1 | 6609 | 0.04 | trans |
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 |
CLU | 0.77 | 0.92 |
GPR37L1 | 0.77 | 0.92 |
HLA-E | 0.77 | 0.90 |
PRODH | 0.76 | 0.91 |
SLC39A12 | 0.76 | 0.86 |
HEPN1 | 0.75 | 0.89 |
GRIN2C | 0.75 | 0.88 |
SELENBP1 | 0.75 | 0.89 |
TSC22D4 | 0.74 | 0.89 |
FAM151A | 0.74 | 0.87 |
Top 10 negatively co-expressed genes | ||
Gene | Pearson's Correlation | Spearman's Correlation |
DUSP12 | -0.63 | -0.82 |
MLLT11 | -0.62 | -0.79 |
PARP6 | -0.62 | -0.79 |
GSTA4 | -0.62 | -0.81 |
SUPV3L1 | -0.62 | -0.81 |
PPP3CC | -0.62 | -0.79 |
STMN1 | -0.61 | -0.80 |
C9orf30 | -0.61 | -0.80 |
ZWILCH | -0.61 | -0.78 |
SPATS2 | -0.61 | -0.79 |
Section III. Gene Ontology annotation
Molecular function | GO term | Evidence | Neuro keywords | PubMed ID |
---|---|---|---|---|
GO:0004767 | sphingomyelin phosphodiesterase activity | TAS | 1718266 | |
GO:0016798 | hydrolase activity, acting on glycosyl bonds | IEA | - | |
Biological process | GO term | Evidence | Neuro keywords | PubMed ID |
GO:0007399 | nervous system development | TAS | neurite (GO term level: 5) | 7670466 |
GO:0007165 | signal transduction | TAS | 7670466 | |
GO:0008152 | metabolic process | IEA | - | |
GO:0006685 | sphingomyelin catabolic process | IEA | - | |
Cellular component | GO term | Evidence | Neuro keywords | PubMed ID |
GO:0005764 | lysosome | IEA | - |
Section V. Pathway annotation
Pathway name | Pathway size | # SZGR 2.0 genes in pathway | Info |
---|---|---|---|
KEGG SPHINGOLIPID METABOLISM | 40 | 26 | All SZGR 2.0 genes in this pathway |
KEGG LYSOSOME | 121 | 83 | All SZGR 2.0 genes in this pathway |
BIOCARTA CERAMIDE PATHWAY | 22 | 16 | All SZGR 2.0 genes in this pathway |
BIOCARTA EDG1 PATHWAY | 27 | 24 | All SZGR 2.0 genes in this pathway |
ST FAS SIGNALING PATHWAY | 65 | 54 | All SZGR 2.0 genes in this pathway |
PID TRAIL PATHWAY | 28 | 20 | All SZGR 2.0 genes in this pathway |
PID FAS PATHWAY | 38 | 29 | All SZGR 2.0 genes in this pathway |
PID TNF PATHWAY | 46 | 33 | All SZGR 2.0 genes in this pathway |
PID IL2 PI3K PATHWAY | 34 | 27 | All SZGR 2.0 genes in this pathway |
PID CERAMIDE PATHWAY | 48 | 37 | All SZGR 2.0 genes in this pathway |
REACTOME GLYCOSPHINGOLIPID METABOLISM | 38 | 22 | All SZGR 2.0 genes in this pathway |
REACTOME PHOSPHOLIPID METABOLISM | 198 | 112 | All SZGR 2.0 genes in this pathway |
REACTOME SPHINGOLIPID METABOLISM | 69 | 40 | All SZGR 2.0 genes in this pathway |
REACTOME METABOLISM OF LIPIDS AND LIPOPROTEINS | 478 | 302 | All SZGR 2.0 genes in this pathway |
PARENT MTOR SIGNALING UP | 567 | 375 | All SZGR 2.0 genes in this pathway |
MULLIGHAN MLL SIGNATURE 1 UP | 380 | 236 | All SZGR 2.0 genes in this pathway |
MULLIGHAN MLL SIGNATURE 2 UP | 418 | 263 | All SZGR 2.0 genes in this pathway |
ENK UV RESPONSE KERATINOCYTE UP | 530 | 342 | All SZGR 2.0 genes in this pathway |
DACOSTA UV RESPONSE VIA ERCC3 UP | 309 | 199 | All SZGR 2.0 genes in this pathway |
GRUETZMANN PANCREATIC CANCER DN | 203 | 134 | All SZGR 2.0 genes in this pathway |
NUYTTEN NIPP1 TARGETS DN | 848 | 527 | All SZGR 2.0 genes in this pathway |
FRIDMAN SENESCENCE UP | 77 | 60 | All SZGR 2.0 genes in this pathway |
TARTE PLASMA CELL VS PLASMABLAST UP | 398 | 262 | All SZGR 2.0 genes in this pathway |
FRASOR RESPONSE TO ESTRADIOL DN | 82 | 52 | All SZGR 2.0 genes in this pathway |
BYSTRYKH HEMATOPOIESIS STEM CELL QTL TRANS | 882 | 572 | All SZGR 2.0 genes in this pathway |
ZHAN MULTIPLE MYELOMA UP | 64 | 46 | All SZGR 2.0 genes in this pathway |
IVANOVA HEMATOPOIESIS STEM CELL LONG TERM | 302 | 191 | All SZGR 2.0 genes in this pathway |
MARIADASON RESPONSE TO CURCUMIN SULINDAC 5 | 23 | 17 | All SZGR 2.0 genes in this pathway |
SATO SILENCED BY METHYLATION IN PANCREATIC CANCER 1 | 419 | 273 | All SZGR 2.0 genes in this pathway |
MCCOLLUM GELDANAMYCIN RESISTANCE UP | 10 | 9 | All SZGR 2.0 genes in this pathway |
MASSARWEH TAMOXIFEN RESISTANCE UP | 578 | 341 | All SZGR 2.0 genes in this pathway |
BERNARD PPAPDC1B TARGETS UP | 40 | 20 | All SZGR 2.0 genes in this pathway |
MATZUK SPERMATOZOA | 114 | 77 | All SZGR 2.0 genes in this pathway |
MOOTHA PGC | 420 | 269 | All SZGR 2.0 genes in this pathway |
ZHANG TLX TARGETS 60HR UP | 293 | 203 | All SZGR 2.0 genes in this pathway |
MILI PSEUDOPODIA HAPTOTAXIS DN | 668 | 419 | All SZGR 2.0 genes in this pathway |
NAKAMURA ADIPOGENESIS LATE UP | 104 | 67 | All SZGR 2.0 genes in this pathway |
CHICAS RB1 TARGETS CONFLUENT | 567 | 365 | All SZGR 2.0 genes in this pathway |
BRUINS UVC RESPONSE VIA TP53 GROUP B | 549 | 316 | All SZGR 2.0 genes in this pathway |
ALFANO MYC TARGETS | 239 | 156 | All SZGR 2.0 genes in this pathway |