Gene Page: CLN8

Summary ?
GeneID2055
SymbolCLN8
SynonymsC8orf61|EPMR
Descriptionceroid-lipofuscinosis, neuronal 8
ReferenceMIM:607837|HGNC:HGNC:2079|Ensembl:ENSG00000182372|HPRD:06383|Vega:OTTHUMG00000090343
Gene typeprotein-coding
Map location8p23
Pascal p-value0.756
Sherlock p-value0.334
Fetal beta-0.477
DMG1 (# studies)
eGeneCerebellum
Myers' cis & trans
Meta

Gene in Data Sources
Gene set name Method of gene setDescriptionInfo
CV:PGCnpGenome-wide Association StudyGWAS
DMG:Wockner_2014Genome-wide DNA methylation analysisThis dataset includes 4641 differentially methylated probes corresponding to 2929 unique genes between schizophrenia patients (n=24) and controls (n=24). 1
GO_AnnotationMapping neuro-related keywords to Gene Ontology annotationsHits with neuro-related keywords: 3 

Section I. Genetics and epigenetics annotation

@Differentially methylated gene

ProbeChromosomePositionNearest geneP (dis)Beta (dis)FDR (dis)Study
cg1792788981733497CLN88.75E-6-0.4010.013DMG:Wockner_2014

@eQTL annotation

SNP IDChromosomePositioneGeneGene Entrez IDpvalueqvalueTSS distanceeQTL type
rs270917chr2161607017CLN820550.01trans
rs270916chr2161607046CLN820550.01trans
rs270909chr2161610477CLN820550.09trans
rs270914chr2161611917CLN820550.01trans
rs270996chr2161670759CLN820550.04trans
rs271001chr2161674742CLN820550.05trans
rs7595584chr2175652187CLN820550.05trans
snp_a-18825820CLN820550.14trans
rs9965053chr183166191CLN820550.16trans

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
CIT0.800.76
C3orf570.790.66
SGPP20.790.72
INPP4B0.780.74
EMB0.770.66
WNT20.770.62
KCNC20.770.65
MCF20.770.61
PHACTR20.760.63
BTBD110.760.75
Top 10 negatively co-expressed genes
GenePearson's Correlation Spearman's Correlation
WDR86-0.39-0.46
PLEKHO1-0.39-0.46
NR2C2AP-0.37-0.44
RPL18-0.36-0.61
EMID1-0.36-0.45
RPL12-0.36-0.53
RPS19P3-0.36-0.61
RPL14-0.36-0.47
TRAF4-0.36-0.54
RPLP1-0.36-0.53

Section III. Gene Ontology annotation

Biological processGO termEvidenceNeuro keywordsPubMed ID
GO:0051935glutamate uptake during transmission of nerve impulseIEAneuron, glutamate, Neurotransmitter, Glial (GO term level: 11)-
GO:0021522spinal cord motor neuron differentiationIEAneuron, Brain (GO term level: 9)-
GO:0007399nervous system developmentIMPneurite (GO term level: 5)10508524 
GO:0001306age-dependent response to oxidative stressIEA-
GO:0007006mitochondrial membrane organizationIEA-
GO:0008203cholesterol metabolic processIMP16086686 
GO:0008306associative learningIEA-
GO:0008610lipid biosynthetic processNAS12151215 
GO:0008361regulation of cell sizeIEA-
GO:0007628adult walking behaviorIEA-
GO:0007040lysosome organizationIEA-
GO:0006644phospholipid metabolic processIMP16086686 
GO:0006869lipid transportNAS12151215 
GO:0043066negative regulation of apoptosisIEA-
GO:0050885neuromuscular process controlling balanceIEA-
GO:0050881musculoskeletal movementIEA-
GO:0051348negative regulation of transferase activityIEA-
GO:0035176social behaviorIEA-
GO:0045861negative regulation of proteolysisNAS12151215 
GO:0050884neuromuscular process controlling postureIEA-
GO:0044257cellular protein catabolic processIEA-
GO:0046513ceramide biosynthetic processNAS12151215 
GO:0045494photoreceptor cell maintenanceIEA-
GO:0060041retina development in camera-type eyeIEA-
GO:0060052neurofilament cytoskeleton organizationIEA-
Cellular componentGO termEvidenceNeuro keywordsPubMed ID
GO:0005789endoplasmic reticulum membraneIEA-
GO:0005783endoplasmic reticulumIDA10861296 
GO:0016020membraneIEA-
GO:0016021integral to membraneNAS10508524 |10861296 
GO:0033116ER-Golgi intermediate compartment membraneIEA-

Section V. Pathway annotation

Pathway namePathway size# SZGR 2.0 genes in pathwayInfo
NAKAMURA TUMOR ZONE PERIPHERAL VS CENTRAL UP 285181All SZGR 2.0 genes in this pathway
FULCHER INFLAMMATORY RESPONSE LECTIN VS LPS UP 579346All SZGR 2.0 genes in this pathway
THUM SYSTOLIC HEART FAILURE DN 244147All SZGR 2.0 genes in this pathway
VECCHI GASTRIC CANCER EARLY UP 430232All SZGR 2.0 genes in this pathway
SMIRNOV CIRCULATING ENDOTHELIOCYTES IN CANCER UP 158103All SZGR 2.0 genes in this pathway
MULLIGHAN NPM1 MUTATED SIGNATURE 1 UP 276165All SZGR 2.0 genes in this pathway
MULLIGHAN NPM1 SIGNATURE 3 UP 341197All SZGR 2.0 genes in this pathway
PEREZ TP53 TARGETS 1174695All SZGR 2.0 genes in this pathway
MOHANKUMAR TLX1 TARGETS UP 414287All SZGR 2.0 genes in this pathway
KANG IMMORTALIZED BY TERT UP 8961All SZGR 2.0 genes in this pathway
MCCLUNG DELTA FOSB TARGETS 2WK 4836All SZGR 2.0 genes in this pathway
BILD CTNNB1 ONCOGENIC SIGNATURE 8252All SZGR 2.0 genes in this pathway
ACEVEDO METHYLATED IN LIVER CANCER DN 940425All SZGR 2.0 genes in this pathway
BOCHKIS FOXA2 TARGETS 425261All SZGR 2.0 genes in this pathway
CHEN METABOLIC SYNDROM NETWORK 1210725All SZGR 2.0 genes in this pathway
WANG METASTASIS OF BREAST CANCER ESR1 DN 3018All SZGR 2.0 genes in this pathway
WANG RESPONSE TO GSK3 INHIBITOR SB216763 UP 397206All SZGR 2.0 genes in this pathway
DUTERTRE ESTRADIOL RESPONSE 24HR DN 505328All SZGR 2.0 genes in this pathway
PANGAS TUMOR SUPPRESSION BY SMAD1 AND SMAD5 DN 157106All SZGR 2.0 genes in this pathway
BRUINS UVC RESPONSE EARLY LATE 317190All SZGR 2.0 genes in this pathway
FEVR CTNNB1 TARGETS UP 682433All SZGR 2.0 genes in this pathway
GOBERT OLIGODENDROCYTE DIFFERENTIATION DN 1080713All SZGR 2.0 genes in this pathway
DELACROIX RAR BOUND ES 462273All SZGR 2.0 genes in this pathway
PEDRIOLI MIR31 TARGETS DN 418245All SZGR 2.0 genes in this pathway