Gene Page: COL3A1

Summary ?
GeneID1281
SymbolCOL3A1
SynonymsEDS4A
Descriptioncollagen type III alpha 1
ReferenceMIM:120180|HGNC:HGNC:2201|Ensembl:ENSG00000168542|HPRD:00365|Vega:OTTHUMG00000132648
Gene typeprotein-coding
Map location2q31
Pascal p-value0.222
TADA p-value0.02
Fetal beta2.255
eGeneMyers' cis & trans
SupportCompositeSet

Gene in Data Sources
Gene set name Method of gene setDescriptionInfo
CV:PGCnpGenome-wide Association StudyGWAS
DNM:Xu_2012Whole Exome Sequencing analysisDe novo mutations of 4 genes were identified by exome sequencing of 795 samples in this study

Section I. Genetics and epigenetics annotation

@DNM table

GeneChromosomePositionRefAltTranscriptAA changeMutation typeSiftCG46TraitStudy
COL3A1chr2189851792CTNM_000090p.152S>FmissenseSchizophreniaDNM:Xu_2012

@eQTL annotation

SNP IDChromosomePositioneGeneGene Entrez IDpvalueqvalueTSS distanceeQTL type
rs17458343chr4162779625COL3A112810.01trans
rs1431490chr4162803539COL3A112810.14trans
rs1440602chr4162816314COL3A112810.2trans
rs12499128chr4162819460COL3A112810.14trans
rs10974671chr94630712COL3A112810.11trans
rs10974689chr94634826COL3A112810.11trans
rs10994209chr1061877705COL3A112810.06trans
rs1338027chr10109074923COL3A112810.2trans

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
TNN0.690.70
LAMB10.680.67
BICC10.670.76
ISLR0.670.52
COL5A10.660.72
COL6A30.660.52
NID20.660.61
FBN10.660.61
COL1A20.650.54
VCL0.650.66
Top 10 negatively co-expressed genes
GenePearson's Correlation Spearman's Correlation
AF347015.21-0.46-0.51
AF347015.31-0.43-0.48
MT-CO2-0.43-0.50
AF347015.27-0.42-0.46
AF347015.8-0.42-0.47
MT-CYB-0.41-0.46
FXYD1-0.41-0.42
AF347015.33-0.40-0.43
C1orf54-0.40-0.48
ENHO-0.39-0.44

Section V. Pathway annotation

Pathway namePathway size# SZGR 2.0 genes in pathwayInfo
KEGG FOCAL ADHESION 201138All SZGR 2.0 genes in this pathway
KEGG ECM RECEPTOR INTERACTION 8453All SZGR 2.0 genes in this pathway
PID ENDOTHELIN PATHWAY 6352All SZGR 2.0 genes in this pathway
PID INTEGRIN1 PATHWAY 6644All SZGR 2.0 genes in this pathway
PID AVB3 INTEGRIN PATHWAY 7553All SZGR 2.0 genes in this pathway
PID SYNDECAN 1 PATHWAY 4629All SZGR 2.0 genes in this pathway
REACTOME DEVELOPMENTAL BIOLOGY 396292All SZGR 2.0 genes in this pathway
REACTOME EXTRACELLULAR MATRIX ORGANIZATION 8742All SZGR 2.0 genes in this pathway
REACTOME COLLAGEN FORMATION 5831All SZGR 2.0 genes in this pathway
REACTOME SIGNALING BY PDGF 12293All SZGR 2.0 genes in this pathway
REACTOME AXON GUIDANCE 251188All SZGR 2.0 genes in this pathway
REACTOME NCAM1 INTERACTIONS 3927All SZGR 2.0 genes in this pathway
REACTOME NCAM SIGNALING FOR NEURITE OUT GROWTH 6449All SZGR 2.0 genes in this pathway
NAKAMURA CANCER MICROENVIRONMENT UP 2614All SZGR 2.0 genes in this pathway
NAKAMURA TUMOR ZONE PERIPHERAL VS CENTRAL UP 285181All SZGR 2.0 genes in this pathway
PICCALUGA ANGIOIMMUNOBLASTIC LYMPHOMA UP 205140All SZGR 2.0 genes in this pathway
WATANABE RECTAL CANCER RADIOTHERAPY RESPONSIVE DN 9251All SZGR 2.0 genes in this pathway
SCHUETZ BREAST CANCER DUCTAL INVASIVE UP 351230All SZGR 2.0 genes in this pathway
KIM RESPONSE TO TSA AND DECITABINE UP 12973All SZGR 2.0 genes in this pathway
SENGUPTA NASOPHARYNGEAL CARCINOMA UP 294178All SZGR 2.0 genes in this pathway
TURASHVILI BREAST DUCTAL CARCINOMA VS DUCTAL NORMAL UP 4425All SZGR 2.0 genes in this pathway
TURASHVILI BREAST DUCTAL CARCINOMA VS LOBULAR NORMAL UP 7350All SZGR 2.0 genes in this pathway
TURASHVILI BREAST LOBULAR CARCINOMA VS DUCTAL NORMAL UP 6938All SZGR 2.0 genes in this pathway
TURASHVILI BREAST LOBULAR CARCINOMA VS LOBULAR NORMAL DN 7442All SZGR 2.0 genes in this pathway
ROY WOUND BLOOD VESSEL UP 5030All SZGR 2.0 genes in this pathway
VECCHI GASTRIC CANCER ADVANCED VS EARLY UP 175120All SZGR 2.0 genes in this pathway
TONKS TARGETS OF RUNX1 RUNX1T1 FUSION HSC UP 185126All SZGR 2.0 genes in this pathway
SENESE HDAC1 TARGETS DN 260143All SZGR 2.0 genes in this pathway
SENESE HDAC1 AND HDAC2 TARGETS DN 232139All SZGR 2.0 genes in this pathway
SENESE HDAC2 TARGETS DN 13377All SZGR 2.0 genes in this pathway
SENESE HDAC3 TARGETS DN 536332All SZGR 2.0 genes in this pathway
LEE NEURAL CREST STEM CELL UP 14699All SZGR 2.0 genes in this pathway
ZHOU INFLAMMATORY RESPONSE FIMA UP 544308All SZGR 2.0 genes in this pathway
KINSEY TARGETS OF EWSR1 FLII FUSION DN 329219All SZGR 2.0 genes in this pathway
DODD NASOPHARYNGEAL CARCINOMA DN 1375806All SZGR 2.0 genes in this pathway
RODRIGUES THYROID CARCINOMA POORLY DIFFERENTIATED DN 805505All SZGR 2.0 genes in this pathway
GOZGIT ESR1 TARGETS DN 781465All SZGR 2.0 genes in this pathway
LANDIS BREAST CANCER PROGRESSION DN 7043All SZGR 2.0 genes in this pathway
DELYS THYROID CANCER UP 443294All SZGR 2.0 genes in this pathway
GRAESSMANN APOPTOSIS BY SERUM DEPRIVATION UP 552347All SZGR 2.0 genes in this pathway
VANHARANTA UTERINE FIBROID UP 4526All SZGR 2.0 genes in this pathway
GRAESSMANN RESPONSE TO MC AND SERUM DEPRIVATION UP 211136All SZGR 2.0 genes in this pathway
GRAESSMANN APOPTOSIS BY DOXORUBICIN DN 17811082All SZGR 2.0 genes in this pathway
GAUSSMANN MLL AF4 FUSION TARGETS F UP 185119All SZGR 2.0 genes in this pathway
BERENJENO TRANSFORMED BY RHOA FOREVER DN 3123All SZGR 2.0 genes in this pathway
LANDIS ERBB2 BREAST TUMORS 324 DN 14993All SZGR 2.0 genes in this pathway
BERENJENO TRANSFORMED BY RHOA DN 394258All SZGR 2.0 genes in this pathway
WANG ESOPHAGUS CANCER VS NORMAL UP 12172All SZGR 2.0 genes in this pathway
WONG ENDMETRIUM CANCER DN 8253All SZGR 2.0 genes in this pathway
APPIERTO RESPONSE TO FENRETINIDE DN 5135All SZGR 2.0 genes in this pathway
HUMMERICH SKIN CANCER PROGRESSION DN 10064All SZGR 2.0 genes in this pathway
TERAMOTO OPN TARGETS CLUSTER 4 138All SZGR 2.0 genes in this pathway
WEINMANN ADAPTATION TO HYPOXIA UP 2924All SZGR 2.0 genes in this pathway
WEINMANN ADAPTATION TO HYPOXIA DN 4133All SZGR 2.0 genes in this pathway
RICKMAN TUMOR DIFFERENTIATED MODERATELY VS POORLY UP 12171All SZGR 2.0 genes in this pathway
FRIDMAN SENESCENCE DN 136All SZGR 2.0 genes in this pathway
RICKMAN HEAD AND NECK CANCER B 4822All SZGR 2.0 genes in this pathway
GOTZMANN EPITHELIAL TO MESENCHYMAL TRANSITION UP 6955All SZGR 2.0 genes in this pathway
SUNG METASTASIS STROMA UP 11070All SZGR 2.0 genes in this pathway
ONDER CDH1 TARGETS 2 UP 256159All SZGR 2.0 genes in this pathway
JECHLINGER EPITHELIAL TO MESENCHYMAL TRANSITION UP 7151All SZGR 2.0 genes in this pathway
NING CHRONIC OBSTRUCTIVE PULMONARY DISEASE DN 12179All SZGR 2.0 genes in this pathway
CHANG POU5F1 TARGETS UP 1510All SZGR 2.0 genes in this pathway
POMEROY MEDULLOBLASTOMA DESMOPLASIC VS CLASSIC DN 5935All SZGR 2.0 genes in this pathway
COLLER MYC TARGETS DN 95All SZGR 2.0 genes in this pathway
FLECHNER BIOPSY KIDNEY TRANSPLANT OK VS DONOR UP 555346All SZGR 2.0 genes in this pathway
OSAWA TNF TARGETS 106All SZGR 2.0 genes in this pathway
YAGI AML SURVIVAL 12987All SZGR 2.0 genes in this pathway
IGLESIAS E2F TARGETS UP 151103All SZGR 2.0 genes in this pathway
MCDOWELL ACUTE LUNG INJURY UP 4529All SZGR 2.0 genes in this pathway
CUI TCF21 TARGETS UP 3727All SZGR 2.0 genes in this pathway
LINDVALL IMMORTALIZED BY TERT DN 8056All SZGR 2.0 genes in this pathway
VERRECCHIA RESPONSE TO TGFB1 C2 2518All SZGR 2.0 genes in this pathway
LEE AGING MUSCLE DN 4629All SZGR 2.0 genes in this pathway
VERRECCHIA EARLY RESPONSE TO TGFB1 5843All SZGR 2.0 genes in this pathway
ZHU CMV 24 HR DN 9164All SZGR 2.0 genes in this pathway
BROWNE HCMV INFECTION 18HR DN 178121All SZGR 2.0 genes in this pathway
TSENG IRS1 TARGETS DN 13588All SZGR 2.0 genes in this pathway
RODWELL AGING KIDNEY NO BLOOD UP 222139All SZGR 2.0 genes in this pathway
RODWELL AGING KIDNEY UP 487303All SZGR 2.0 genes in this pathway
ZHU CMV ALL DN 12893All SZGR 2.0 genes in this pathway
CUI TCF21 TARGETS 2 UP 428266All SZGR 2.0 genes in this pathway
KEEN RESPONSE TO ROSIGLITAZONE DN 10668All SZGR 2.0 genes in this pathway
LIU SMARCA4 TARGETS 6439All SZGR 2.0 genes in this pathway
BURTON ADIPOGENESIS 11 5740All SZGR 2.0 genes in this pathway
KAYO CALORIE RESTRICTION MUSCLE UP 9564All SZGR 2.0 genes in this pathway
BAELDE DIABETIC NEPHROPATHY DN 434302All SZGR 2.0 genes in this pathway
WANG SMARCE1 TARGETS UP 280183All SZGR 2.0 genes in this pathway
JI RESPONSE TO FSH UP 7456All SZGR 2.0 genes in this pathway
URS ADIPOCYTE DIFFERENTIATION DN 3020All SZGR 2.0 genes in this pathway
MARCHINI TRABECTEDIN RESISTANCE DN 4934All SZGR 2.0 genes in this pathway
DOUGLAS BMI1 TARGETS DN 314188All SZGR 2.0 genes in this pathway
CLASPER LYMPHATIC VESSELS DURING METASTASIS DN 3623All SZGR 2.0 genes in this pathway
RIGGINS TAMOXIFEN RESISTANCE DN 220147All SZGR 2.0 genes in this pathway
KYNG DNA DAMAGE DN 195135All SZGR 2.0 genes in this pathway
KYNG ENVIRONMENTAL STRESS RESPONSE UP 5641All SZGR 2.0 genes in this pathway
KONDO EZH2 TARGETS 245148All SZGR 2.0 genes in this pathway
RIZKI TUMOR INVASIVENESS 3D UP 210124All SZGR 2.0 genes in this pathway
ACEVEDO NORMAL TISSUE ADJACENT TO LIVER TUMOR UP 17496All SZGR 2.0 genes in this pathway
ACEVEDO LIVER CANCER UP 973570All SZGR 2.0 genes in this pathway
ACEVEDO LIVER CANCER WITH H3K27ME3 UP 295149All SZGR 2.0 genes in this pathway
BONOME OVARIAN CANCER SURVIVAL OPTIMAL DEBULKING 246152All SZGR 2.0 genes in this pathway
BOQUEST STEM CELL UP 260174All SZGR 2.0 genes in this pathway
CROMER TUMORIGENESIS UP 6336All SZGR 2.0 genes in this pathway
RUIZ TNC TARGETS UP 153107All SZGR 2.0 genes in this pathway
SWEET LUNG CANCER KRAS DN 435289All SZGR 2.0 genes in this pathway
POOLA INVASIVE BREAST CANCER UP 288168All SZGR 2.0 genes in this pathway
CHIANG LIVER CANCER SUBCLASS CTNNB1 DN 170105All SZGR 2.0 genes in this pathway
MIKKELSEN MEF LCP WITH H3K4ME3 12868All SZGR 2.0 genes in this pathway
HOSHIDA LIVER CANCER SUBCLASS S1 237159All SZGR 2.0 genes in this pathway
DANG REGULATED BY MYC DN 253192All SZGR 2.0 genes in this pathway
YAO TEMPORAL RESPONSE TO PROGESTERONE CLUSTER 16 7947All SZGR 2.0 genes in this pathway
KYNG RESPONSE TO H2O2 VIA ERCC6 UP 4030All SZGR 2.0 genes in this pathway
ZEMBUTSU SENSITIVITY TO METHOTREXATE 189All SZGR 2.0 genes in this pathway
CHICAS RB1 TARGETS GROWING 243155All SZGR 2.0 genes in this pathway
CHICAS RB1 TARGETS CONFLUENT 567365All SZGR 2.0 genes in this pathway
GREGORY SYNTHETIC LETHAL WITH IMATINIB 14583All SZGR 2.0 genes in this pathway
LU EZH2 TARGETS DN 414237All SZGR 2.0 genes in this pathway
HOELZEL NF1 TARGETS DN 11573All SZGR 2.0 genes in this pathway
DEMAGALHAES AGING DN 1610All SZGR 2.0 genes in this pathway
PILON KLF1 TARGETS UP 504321All SZGR 2.0 genes in this pathway
MIYAGAWA TARGETS OF EWSR1 ETS FUSIONS DN 229135All SZGR 2.0 genes in this pathway
KIM GLIS2 TARGETS UP 8461All SZGR 2.0 genes in this pathway
PASINI SUZ12 TARGETS DN 315215All SZGR 2.0 genes in this pathway
VANDESLUIS COMMD1 TARGETS GROUP 4 DN 1611All SZGR 2.0 genes in this pathway
BILANGES SERUM SENSITIVE VIA TSC2 3925All SZGR 2.0 genes in this pathway
SERVITJA ISLET HNF1A TARGETS UP 163111All SZGR 2.0 genes in this pathway
ANASTASSIOU CANCER MESENCHYMAL TRANSITION SIGNATURE 6440All SZGR 2.0 genes in this pathway
DURAND STROMA S UP 297194All SZGR 2.0 genes in this pathway
ZWANG TRANSIENTLY UP BY 2ND EGF PULSE ONLY 1725838All SZGR 2.0 genes in this pathway
NABA COLLAGENS 4426All SZGR 2.0 genes in this pathway
NABA CORE MATRISOME 275148All SZGR 2.0 genes in this pathway
NABA MATRISOME 1028559All SZGR 2.0 genes in this pathway
FARMER BREAST CANCER CLUSTER 4 1912All SZGR 2.0 genes in this pathway