DES

Basic Information
Gene SymbolDES
Entrez Id1674
Positionchr2:220283099..220291461
Descriptiondesmin
Gene typeprotein-coding
SNP Information

SNPPositionAlelleGeneAnnotationInfoOrSeP-valueeQTLScore*
rs10398962:220282321A/GDESnear-gene-50.9761.003910.01130.73052b
rs108042732:220289651T/CDESintron0.9801.001100.01110.92157
rs1145634352:220286798A/CDESintron0.9500.985900.05860.80835
rs126211882:220287892C/GDESintron0.9920.998100.01110.86265
rs129202:220285666C/GDEScoding-synon0.9980.996310.01110.74075
rs129910252:220284779T/CDESintron0.9951.002000.01110.85594
rs1459147222:220282812T/CDESnear-gene-50.7951.013390.05180.7973-
rs20709272:220282955T/CDESnear-gene-50.9641.002400.01130.835
rs28548852:220282513T/CDESnear-gene-50.9471.035410.05220.5054
rs729636002:220286694T/CDESintron0.8501.049280.03380.15467
rs769005482:220289229C/GDESintron,ncRNA0.8160.999300.03080.98255
rs796837152:220287001A/GDESintron0.7400.944030.05490.2945
SNPPositionAlelleGeneAnnotationInfoOrSeP-valueeQTLScore*

  Note: RegulomeDB score*
score supporting data score supporting data
1aeQTL + TF binding + matched TF motif + matched DNase Footprint + DNase peak6other
2aTF binding + matched TF motif + matched DNase Footprint + DNase peak5TF binding or DNase peak
1beQTL + TF binding + any motif + DNase Footprint + DNase peak4TF binding + DNase peak
2bTF binding + any motif + DNase Footprint + DNase peak3bTF binding + matched TF motif
1ceQTL + TF binding + matched TF motif + DNase peak1feQTL + TF binding / DNase peak
2cTF binding + matched TF motif + DNase peak3aTF binding + any motif + DNase peak
1deQTL + TF binding + any motif + DNase peak1eeQTL + TF binding + matched TF motif
CNV Information

The gene is not affected by CNV!

eQTL Information

There is no eQTL snp about this gene!

KEGG annotation
KEGG pathway annotationhsa05410; Hypertrophic cardiomyopathy (HCM)
KEGG pathway annotationhsa05412; Arrhythmogenic right ventricular cardiomyopathy (ARVC)
KEGG pathway annotationhsa05414; Dilated cardiomyopathy
GO annotation
GO pathway annotationGO:0005200; structural constituent of cytoskeleton
GO pathway annotationGO:0005515; protein binding
GO pathway annotationGO:0005829; cytosol
GO pathway annotationGO:0005882; intermediate filament
GO pathway annotationGO:0005916; fascia adherens
GO pathway annotationGO:0006936; muscle contraction
GO pathway annotationGO:0007010; cytoskeleton organization
GO pathway annotationGO:0008016; regulation of heart contraction
GO pathway annotationGO:0008092; cytoskeletal protein binding
GO pathway annotationGO:0014704; intercalated disc
GO pathway annotationGO:0030018; Z disc
GO pathway annotationGO:0030049; muscle filament sliding
GO pathway annotationGO:0031594; neuromuscular junction
GO pathway annotationGO:0042383; sarcolemma
GO pathway annotationGO:0042802; identical protein binding
GO pathway annotationGO:0045109; intermediate filament organization
GO pathway annotationGO:0045111; intermediate filament cytoskeleton
GO pathway annotationGO:0070062; extracellular exosome
Co-expression Information

There is no gene co-express this gene!

Expression pattern
Note: Avg - average expression of all genes
Description Age Description Age Description Age
Embryonic4-8 PCWEarly fetal18-10 PCWEarly fetal210-13 PCW
Early mid-fetal113-16 PCWEarly mid-fetal216-19 PCWLate mid-fetal19-24 PCW
Late fetal24-38 PCWNeonatal & early infancy0-6 MLate infancy6-12 M
Early childhood1-6 YMiddle and late childhood6-12 YAdolescence12-20 Y
Young adulthood20-40 YMiddle adulthood40-60 YLate adulthood60 Y+
Protein-protein interaction