Summary ?
GeneID1826
SymbolDSCAM
SynonymsCHD2|CHD2-42|CHD2-52
DescriptionDown syndrome cell adhesion molecule
ReferenceMIM:602523|HGNC:HGNC:3039|Ensembl:ENSG00000171587|HPRD:03953|Vega:OTTHUMG00000086732
Gene typeprotein-coding
Map location21q22.2
Pascal p-value0.267
Sherlock p-value0.482
Fetal beta0.372
eGeneMyers' cis & trans
Meta
SupportCompositeSet
Darnell FMRP targets

Gene in Data Sources
Gene set name Method of gene setDescriptionInfo
CV:GWASdbGenome-wide Association StudiesGWASdb records for schizophrenia
CV:PGCnpGenome-wide Association StudyGWAS
DNM:Fromer_2014Whole Exome Sequencing analysisThis study reported a WES study of 623 schizophrenia trios, reporting DNMs using genomic DNA.
DNM:Xu_2012Whole Exome Sequencing analysisDe novo mutations of 4 genes were identified by exome sequencing of 795 samples in this study
GO_AnnotationMapping neuro-related keywords to Gene Ontology annotationsHits with neuro-related keywords: 1 

Section I. Genetics and epigenetics annotation

@DNM table

GeneChromosomePositionRefAltTranscriptAA changeMutation typeSiftCG46TraitStudy
DSCAMchr2141450663CTNM_001271534
NM_001389
NR_073202
.
.
.
silent
silent
npcRNA
SchizophreniaDNM:Fromer_2014
DSCAMchr2141710090GTNM_001271534
NM_001389
NR_073202
p.574T>K
p.574T>K
.
missense
missense
npcRNA
SchizophreniaDNM:Xu_2012

@eQTL annotation

SNP IDChromosomePositioneGeneGene Entrez IDpvalueqvalueTSS distanceeQTL type
rs2019147chr2142422183DSCAM18260.02cis
rs7530588chr198913842DSCAM18260.07trans

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.

Top co-expressed genes in brain regions

Top 10 positively co-expressed genes
GenePearson's Correlation Spearman's Correlation
COG10.860.80
MAPRE30.840.78
WIPI20.830.75
RANGAP10.830.79
BAP10.820.79
ZER10.810.77
GPI0.810.78
PGBD50.810.79
ENTPD60.810.81
CACNB10.800.77
Top 10 negatively co-expressed genes
GenePearson's Correlation Spearman's Correlation
AF347015.21-0.59-0.34
AF347015.18-0.56-0.34
IL32-0.53-0.41
GNG11-0.51-0.40
NOSTRIN-0.49-0.30
AF347015.8-0.49-0.27
MT-CO2-0.48-0.27
MT-ATP8-0.48-0.29
AP002478.3-0.47-0.35
AF347015.2-0.47-0.22

Section III. Gene Ontology annotation

Molecular functionGO termEvidenceNeuro keywordsPubMed ID
GO:0005515protein bindingIEA-
Biological processGO termEvidenceNeuro keywordsPubMed ID
GO:0007399nervous system developmentTASneurite (GO term level: 5)9426258 
GO:0007155cell adhesionTAS9426258 
Cellular componentGO termEvidenceNeuro keywordsPubMed ID
GO:0005576extracellular regionIEA-
GO:0005624membrane fractionTAS9426258 
GO:0005886plasma membraneTAS9426258 
GO:0005887integral to plasma membraneTAS9426258 

Section V. Pathway annotation

Pathway namePathway size# SZGR 2.0 genes in pathwayInfo
PID ERA GENOMIC PATHWAY 6537All SZGR 2.0 genes in this pathway
PID HNF3A PATHWAY 4429All SZGR 2.0 genes in this pathway
REACTOME CELL CELL COMMUNICATION 12077All SZGR 2.0 genes in this pathway
REACTOME DSCAM INTERACTIONS 1110All SZGR 2.0 genes in this pathway
ODONNELL TFRC TARGETS DN 13976All SZGR 2.0 genes in this pathway
ZHOU INFLAMMATORY RESPONSE FIMA UP 544308All SZGR 2.0 genes in this pathway
GOZGIT ESR1 TARGETS DN 781465All SZGR 2.0 genes in this pathway
SHEN SMARCA2 TARGETS DN 357212All SZGR 2.0 genes in this pathway
ONDER CDH1 TARGETS 2 DN 464276All SZGR 2.0 genes in this pathway
XU GH1 AUTOCRINE TARGETS DN 14294All SZGR 2.0 genes in this pathway
CREIGHTON ENDOCRINE THERAPY RESISTANCE 1 528324All SZGR 2.0 genes in this pathway
CREIGHTON ENDOCRINE THERAPY RESISTANCE 4 307185All SZGR 2.0 genes in this pathway
JEPSEN SMRT TARGETS 3323All SZGR 2.0 genes in this pathway
KYNG DNA DAMAGE BY 4NQO 3824All SZGR 2.0 genes in this pathway
KYNG DNA DAMAGE DN 195135All SZGR 2.0 genes in this pathway
MASSARWEH TAMOXIFEN RESISTANCE DN 258160All SZGR 2.0 genes in this pathway
MEISSNER NPC HCP WITH H3K4ME2 AND H3K27ME3 349234All SZGR 2.0 genes in this pathway
MIKKELSEN MCV6 HCP WITH H3K27ME3 435318All SZGR 2.0 genes in this pathway
MIKKELSEN MEF HCP WITH H3K27ME3 590403All SZGR 2.0 genes in this pathway
DUTERTRE ESTRADIOL RESPONSE 24HR UP 324193All SZGR 2.0 genes in this pathway
BRUINS UVC RESPONSE VIA TP53 GROUP A 898516All SZGR 2.0 genes in this pathway
GOBERT OLIGODENDROCYTE DIFFERENTIATION DN 1080713All SZGR 2.0 genes in this pathway
PEDERSEN METASTASIS BY ERBB2 ISOFORM 7 403240All SZGR 2.0 genes in this pathway

Section VI. microRNA annotation

miRNA familyTarget positionmiRNA IDmiRNA seq
UTR startUTR endMatch method
miR-1401391461A,m8hsa-miR-140brainAGUGGUUUUACCCUAUGGUAG
miR-1821001071A,m8hsa-miR-182UUUGGCAAUGGUAGAACUCACA
miR-30-3p135141m8hsa-miR-30a-3pCUUUCAGUCGGAUGUUUGCAGC
hsa-miR-30e-3pCUUUCAGUCGGAUGUUUACAGC
miR-378*226232m8hsa-miR-422bCUGGACUUGGAGUCAGAAGGCC
hsa-miR-422aCUGGACUUAGGGUCAGAAGGCC
miR-961011071Ahsa-miR-96brainUUUGGCACUAGCACAUUUUUGC