Gene Page:DES

Summary?
GeneID 1674
Symbol DES
Synonyms CSM1|CSM2|LGMD2R
Description desmin
Reference MIM:125660|HGNC:HGNC:2770|运用:嗯SG00000175084|HPRD:00514|Vega:OTTHUMG00000058924
Gene type protein-coding
Map location 2q35
Pascal p-value 0.226
Fetal beta -0.342
Support G2Cdb.human_BAYES-COLLINS-HUMAN-PSD-FULL
G2Cdb.human_BAYES-COLLINS-MOUSE-PSD-CONSENSUS

Gene in Data Sources
Gene set name Method of gene set Description Info
CV:PGCnp Genome-wide Association Study GWAS
PMID:cooccur High-throughput literature-search Systematic search in PubMed for genes co-occurring with SCZ keywords. A total of 3027 genes were included.
GSMA_IIA Genome scan meta-analysis (All samples) Psr: 0.00916
GSMA_IIE Genome scan meta-analysis (European-ancestry samples) Psr: 0.01016
Literature High-throughput literature-search Co-occurance with Schizophrenia keywords: schizophrenia,schizophrenic,schizophrenics,schizotypy,schizophrenias,schizotypal Click to show details

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.

No co-expressed genes in brain regions


Section III. Gene Ontology annotation

Molecular function GO term Evidence Neuro keywords PubMed ID
GO:0005515 protein binding IEA -
GO:0005200 structural constituent of cytoskeleton TAS 9736733
Biological process GO term Evidence Neuro keywords PubMed ID
GO:0007010 cytoskeleton organization TAS 9736733
GO:0008016 regulation of heart contraction TAS 9697706
GO:0006936 muscle contraction TAS 9697706
Cellular component GO term Evidence Neuro keywords PubMed ID
GO:0045202 synapse IEA neuron, Synap, Neurotransmitter, Glial (GO term level: 2) -
GO:0005856 cytoskeleton IEA -
GO:0005882 intermediate filament TAS 9736733
GO:0005626 insoluble fraction IEA -
GO:0005737 cytoplasm IEA -
GO:0030018 Z disc IDA 9415431
GO:0042383 sarcolemma IEA -
GO:0043292 contractile fiber IEA -

Section V. Pathway annotation

Pathway name Pathway size # SZGR 2.0 genes in pathway Info
KEGG HYPERTROPHIC CARDIOMYOPATHY HCM 85 65 All SZGR 2.0 genes in this pathway
KEGG ARRHYTHMOGENIC RIGHT VENTRICULAR CARDIOMYOPATHY ARVC 76 59 All SZGR 2.0 genes in this pathway
KEGG DILATED CARDIOMYOPATHY 92 68 All SZGR 2.0 genes in this pathway
PID AURORA B PATHWAY 39 24 All SZGR 2.0 genes in this pathway
REACTOME STRIATED MUSCLE CONTRACTION 27 12 All SZGR 2.0 genes in this pathway
REACTOME MUSCLE CONTRACTION 48 24 All SZGR 2.0 genes in this pathway
PARENT MTOR SIGNALING UP 567 375 All SZGR 2.0 genes in this pathway
WILCOX RESPONSE TO PROGESTERONE DN 66 44 All SZGR 2.0 genes in this pathway
EBAUER TARGETS OF PAX3 FOXO1 FUSION UP 207 128 All SZGR 2.0 genes in this pathway
HUMMERICH SKIN CANCER PROGRESSION DN 100 64 All SZGR 2.0 genes in this pathway
EBAUER MYOGENIC TARGETS OF PAX3 FOXO1 FUSION 50 26 All SZGR 2.0 genes in this pathway
OHASHI AURKB TARGETS 10 6 All SZGR 2.0 genes in this pathway
SCHLESINGER H3K27ME3 IN NORMAL AND METHYLATED IN CANCER 28 21 All SZGR 2.0 genes in this pathway
RICKMAN HEAD AND NECK CANCER F 54 32 All SZGR 2.0 genes in this pathway
REN ALVEOLAR RHABDOMYOSARCOMA UP 98 64 All SZGR 2.0 genes in this pathway
KAYO CALORIE RESTRICTION MUSCLE UP 95 64 All SZGR 2.0 genes in this pathway
SMID BREAST CANCER NORMAL LIKE UP 476 285 All SZGR 2.0 genes in this pathway
WEST ADRENOCORTICAL CARCINOMA VS ADENOMA UP 21 13 All SZGR 2.0 genes in this pathway
MEISSNER NPC HCP WITH H3 UNMETHYLATED 536 296 All SZGR 2.0 genes in this pathway
迈斯纳大脑HCP H3 UNMETHYLATED 37 21 All SZGR 2.0 genes in this pathway
MIKKELSEN MEF HCP WITH H3K27ME3 590 403 All SZGR 2.0 genes in this pathway
ZEMBUTSU SENSITIVITY TO CISPLATIN 20 14 All SZGR 2.0 genes in this pathway
ZEMBUTSU SENSITIVITY TO DOXORUBICIN 17 10 All SZGR 2.0 genes in this pathway
BRUINS UVC RESPONSE VIA TP53 GROUP C 92 60 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

Section VI. microRNA annotation

miRNA family Target position miRNA ID miRNA seq
UTR start UTR end Match method
miR-370 577 583 1A hsa-miR-370brain GCCUGCUGGGGUGGAACCUGG