Gene Page:COL3A1

Summary?
GeneID 1281
Symbol COL3A1
Synonyms EDS4A
Description collagen type III alpha 1
Reference MIM:120180|HGNC:HGNC:2201|Ensembl:ENSG00000168542|HPRD:00365|Vega:OTTHUMG00000132648
Gene type protein-coding
Map location 2q31
Pascal p-value 0.222
TADA p-value 0.02
Fetal beta 2.255
eGene Myers' cis & trans
Support CompositeSet

Gene in Data Sources
Gene set name Method of gene set Description Info
CV:PGCnp Genome-wide Association Study GWAS
DNM:Xu_2012 Whole Exome Sequencing analysis De novo mutations of 4 genes were identified by exome sequencing of 795 samples in this study

Section I. Genetics and epigenetics annotation

@DNM table

Gene Chromosome Position Ref Alt Transcript AA change Mutation type Sift CG46 Trait Study
COL3A1 chr2 189851792 C T NM_000090 p.152S>F missense Schizophrenia DNM:Xu_2012

@eQTL annotation

SNP ID Chromosome Position eGene Gene Entrez ID pvalue qvalue TSS distance eQTL type
rs17458343 chr4 162779625 COL3A1 1281 0.01 trans
rs1431490 chr4 162803539 COL3A1 1281 0.14 trans
rs1440602 chr4 162816314 COL3A1 1281 0.2 trans
rs12499128 chr4 162819460 COL3A1 1281 0.14 trans
rs10974671 chr9 4630712 COL3A1 1281 0.11 trans
rs10974689 chr9 4634826 COL3A1 1281 0.11 trans
rs10994209 chr10 61877705 COL3A1 1281 0.06 trans
rs1338027 chr10 109074923 COL3A1 1281 0.2 trans

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
Gene Pearson's Correlation Spearman's Correlation
TNN 0.69 0.70
LAMB1 0.68 0.67
BICC1 0.67 0.76
ISLR 0.67 0.52
COL5A1 0.66 0.72
COL6A3 0.66 0.52
NID2 0.66 0.61
FBN1 0.66 0.61
COL1A2 0.65 0.54
VCL 0.65 0.66
Top 10 negatively co-expressed genes
Gene Pearson'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 name Pathway size # SZGR 2.0 genes in pathway Info
KEGG FOCAL ADHESION 201 138 All SZGR 2.0 genes in this pathway
KEGG ECM RECEPTOR INTERACTION 84 53 All SZGR 2.0 genes in this pathway
PID ENDOTHELIN PATHWAY 63 52 All SZGR 2.0 genes in this pathway
PID INTEGRIN1 PATHWAY 66 44 All SZGR 2.0 genes in this pathway
PID AVB3 INTEGRIN PATHWAY 75 53 All SZGR 2.0 genes in this pathway
PID SYNDECAN 1 PATHWAY 46 29 All SZGR 2.0 genes in this pathway
REACTOME DEVELOPMENTAL BIOLOGY 396 292 All SZGR 2.0 genes in this pathway
REACTOME EXTRACELLULAR MATRIX ORGANIZATION 87 42 All SZGR 2.0 genes in this pathway
REACTOME COLLAGEN FORMATION 58 31 All SZGR 2.0 genes in this pathway
REACTOME SIGNALING BY PDGF 122 93 All SZGR 2.0 genes in this pathway
REACTOME AXON GUIDANCE 251 188 All SZGR 2.0 genes in this pathway
REACTOME NCAM1 INTERACTIONS 39 27 All SZGR 2.0 genes in this pathway
REACTOME NCAM SIGNALING FOR NEURITE OUT GROWTH 64 49 All SZGR 2.0 genes in this pathway
NAKAMURA CANCER MICROENVIRONMENT UP 26 14 All SZGR 2.0 genes in this pathway
NAKAMURA TUMOR ZONE PERIPHERAL VS CENTRAL UP 285 181 All SZGR 2.0 genes in this pathway
PICCALUGA ANGIOIMMUNOBLASTIC LYMPHOMA UP 205 140 All SZGR 2.0 genes in this pathway
WATANABE RECTAL CANCER RADIOTHERAPY RESPONSIVE DN 92 51 All SZGR 2.0 genes in this pathway
SCHUETZ BREAST CANCER DUCTAL INVASIVE UP 351 230 All SZGR 2.0 genes in this pathway
KIM RESPONSE TO TSA AND DECITABINE UP 129 73 All SZGR 2.0 genes in this pathway
SENGUPTA NASOPHARYNGEAL CARCINOMA UP 294 178 All SZGR 2.0 genes in this pathway
TURASHVILI BREAST DUCTAL CARCINOMA VS DUCTAL NORMAL UP 44 25 All SZGR 2.0 genes in this pathway
TURASHVILI BREAST DUCTAL CARCINOMA VS LOBULAR NORMAL UP 73 50 All SZGR 2.0 genes in this pathway
TURASHVILI BREAST LOBULAR CARCINOMA VS DUCTAL NORMAL UP 69 38 All SZGR 2.0 genes in this pathway
TURASHVILI BREAST LOBULAR CARCINOMA VS LOBULAR NORMAL DN 74 42 All SZGR 2.0 genes in this pathway
ROY WOUND BLOOD VESSEL UP 50 30 All SZGR 2.0 genes in this pathway
VECCHI GASTRIC CANCER ADVANCED VS EARLY UP 175 120 All SZGR 2.0 genes in this pathway
TONKS TARGETS OF RUNX1 RUNX1T1 FUSION HSC UP 185 126 All SZGR 2.0 genes in this pathway
SENESE HDAC1 TARGETS DN 260 143 All SZGR 2.0 genes in this pathway
SENESE HDAC1 AND HDAC2 TARGETS DN 232 139 All SZGR 2.0 genes in this pathway
SENESE HDAC2 TARGETS DN 133 77 All SZGR 2.0 genes in this pathway
SENESE HDAC3 TARGETS DN 536 332 All SZGR 2.0 genes in this pathway
LEE NEURAL CREST STEM CELL UP 146 99 All SZGR 2.0 genes in this pathway
ZHOU INFLAMMATORY RESPONSE FIMA UP 544 308 All SZGR 2.0 genes in this pathway
KINSEY TARGETS OF EWSR1 FLII FUSION DN 329 219 All SZGR 2.0 genes in this pathway
DODD NASOPHARYNGEAL CARCINOMA DN 1375 806 All SZGR 2.0 genes in this pathway
RODRIGUES THYROID CARCINOMA POORLY DIFFERENTIATED DN 805 505 All SZGR 2.0 genes in this pathway
GOZGIT ESR1 TARGETS DN 781 465 All SZGR 2.0 genes in this pathway
LANDIS BREAST CANCER PROGRESSION DN 70 43 All SZGR 2.0 genes in this pathway
DELYS THYROID CANCER UP 443 294 All SZGR 2.0 genes in this pathway
GRAESSMANN APOPTOSIS BY SERUM DEPRIVATION UP 552 347 All SZGR 2.0 genes in this pathway
VANHARANTA UTERINE FIBROID UP 45 26 All SZGR 2.0 genes in this pathway
GRAESSMANN RESPONSE TO MC AND SERUM DEPRIVATION UP 211 136 All SZGR 2.0 genes in this pathway
GRAESSMANN APOPTOSIS BY DOXORUBICIN DN 1781 1082 All SZGR 2.0 genes in this pathway
GAUSSMANN MLL AF4 FUSION TARGETS F UP 185 119 All SZGR 2.0 genes in this pathway
BERENJENO TRANSFORMED BY RHOA FOREVER DN 31 23 All SZGR 2.0 genes in this pathway
LANDIS ERBB2 BREAST TUMORS 324 DN 149 93 All SZGR 2.0 genes in this pathway
BERENJENO TRANSFORMED BY RHOA DN 394 258 All SZGR 2.0 genes in this pathway
WANG ESOPHAGUS CANCER VS NORMAL UP 121 72 All SZGR 2.0 genes in this pathway
WONG ENDMETRIUM CANCER DN 82 53 All SZGR 2.0 genes in this pathway
APPIERTO RESPONSE TO FENRETINIDE DN 51 35 All SZGR 2.0 genes in this pathway
HUMMERICH SKIN CANCER PROGRESSION DN 100 64 All SZGR 2.0 genes in this pathway
TERAMOTO OPN TARGETS CLUSTER 4 13 8 All SZGR 2.0 genes in this pathway
WEINMANN ADAPTATION TO HYPOXIA UP 29 24 All SZGR 2.0 genes in this pathway
WEINMANN ADAPTATION TO HYPOXIA DN 41 33 All SZGR 2.0 genes in this pathway
RICKMAN TUMOR DIFFERENTIATED MODERATELY VS POORLY UP 121 71 All SZGR 2.0 genes in this pathway
FRIDMAN SENESCENCE DN 13 6 All SZGR 2.0 genes in this pathway
RICKMAN HEAD AND NECK CANCER B 48 22 All SZGR 2.0 genes in this pathway
GOTZMANN EPITHELIAL TO MESENCHYMAL TRANSITION UP 69 55 All SZGR 2.0 genes in this pathway
SUNG METASTASIS STROMA UP 110 70 All SZGR 2.0 genes in this pathway
ONDER CDH1 TARGETS 2 UP 256 159 All SZGR 2.0 genes in this pathway
JECHLINGER EPITHELIAL TO MESENCHYMAL TRANSITION UP 71 51 All SZGR 2.0 genes in this pathway
NING CHRONIC OBSTRUCTIVE PULMONARY DISEASE DN 121 79 All SZGR 2.0 genes in this pathway
CHANG POU5F1 TARGETS UP 15 10 All SZGR 2.0 genes in this pathway
POMEROY MEDULLOBLASTOMA DESMOPLASIC VS CLASSIC DN 59 35 All SZGR 2.0 genes in this pathway
COLLER MYC TARGETS DN 9 5 All SZGR 2.0 genes in this pathway
FLECHNER BIOPSY KIDNEY TRANSPLANT OK VS DONOR UP 555 346 All SZGR 2.0 genes in this pathway
OSAWA TNF TARGETS 10 6 All SZGR 2.0 genes in this pathway
YAGI AML SURVIVAL 129 87 All SZGR 2.0 genes in this pathway
IGLESIAS E2F TARGETS UP 151 103 All SZGR 2.0 genes in this pathway
MCDOWELL ACUTE LUNG INJURY UP 45 29 All SZGR 2.0 genes in this pathway
CUI TCF21 TARGETS UP 37 27 All SZGR 2.0 genes in this pathway
LINDVALL IMMORTALIZED BY TERT DN 80 56 All SZGR 2.0 genes in this pathway
VERRECCHIA RESPONSE TO TGFB1 C2 25 18 All SZGR 2.0 genes in this pathway
LEE AGING MUSCLE DN 46 29 All SZGR 2.0 genes in this pathway
VERRECCHIA EARLY RESPONSE TO TGFB1 58 43 All SZGR 2.0 genes in this pathway
ZHU CMV 24 HR DN 91 64 All SZGR 2.0 genes in this pathway
BROWNE HCMV INFECTION 18HR DN 178 121 All SZGR 2.0 genes in this pathway
TSENG IRS1 TARGETS DN 135 88 All SZGR 2.0 genes in this pathway
RODWELL AGING KIDNEY NO BLOOD UP 222 139 All SZGR 2.0 genes in this pathway
RODWELL AGING KIDNEY UP 487 303 All SZGR 2.0 genes in this pathway
ZHU CMV ALL DN 128 93 All SZGR 2.0 genes in this pathway
CUI TCF21 TARGETS 2 UP 428 266 All SZGR 2.0 genes in this pathway
KEEN RESPONSE TO ROSIGLITAZONE DN 106 68 All SZGR 2.0 genes in this pathway
LIU SMARCA4 TARGETS 64 39 All SZGR 2.0 genes in this pathway
BURTON ADIPOGENESIS 11 57 40 All SZGR 2.0 genes in this pathway
KAYO CALORIE RESTRICTION MUSCLE UP 95 64 All SZGR 2.0 genes in this pathway
BAELDE DIABETIC NEPHROPATHY DN 434 302 All SZGR 2.0 genes in this pathway
WANG SMARCE1 TARGETS UP 280 183 All SZGR 2.0 genes in this pathway
JI RESPONSE TO FSH UP 74 56 All SZGR 2.0 genes in this pathway
URS ADIPOCYTE DIFFERENTIATION DN 30 20 All SZGR 2.0 genes in this pathway
MARCHINI TRABECTEDIN RESISTANCE DN 49 34 All SZGR 2.0 genes in this pathway
DOUGLAS BMI1 TARGETS DN 314 188 All SZGR 2.0 genes in this pathway
CLASPER LYMPHATIC VESSELS DURING METASTASIS DN 36 23 All SZGR 2.0 genes in this pathway
RIGGINS TAMOXIFEN RESISTANCE DN 220 147 All SZGR 2.0 genes in this pathway
KYNG DNA DAMAGE DN 195 135 All SZGR 2.0 genes in this pathway
KYNG ENVIRONMENTAL STRESS RESPONSE UP 56 41 All SZGR 2.0 genes in this pathway
KONDO EZH2 TARGETS 245 148 All SZGR 2.0 genes in this pathway
RIZKI TUMOR INVASIVENESS 3D UP 210 124 All SZGR 2.0 genes in this pathway
ACEVEDO NORMAL TISSUE ADJACENT TO LIVER TUMOR UP 174 96 All SZGR 2.0 genes in this pathway
ACEVEDO LIVER CANCER UP 973 570 All SZGR 2.0 genes in this pathway
ACEVEDO LIVER CANCER WITH H3K27ME3 UP 295 149 All SZGR 2.0 genes in this pathway
BONOME OVARIAN CANCER SURVIVAL OPTIMAL DEBULKING 246 152 All SZGR 2.0 genes in this pathway
BOQUEST STEM CELL UP 260 174 All SZGR 2.0 genes in this pathway
CROMER TUMORIGENESIS UP 63 36 All SZGR 2.0 genes in this pathway
RUIZ TNC TARGETS UP 153 107 All SZGR 2.0 genes in this pathway
SWEET LUNG CANCER KRAS DN 435 289 All SZGR 2.0 genes in this pathway
POOLA INVASIVE BREAST CANCER UP 288 168 All SZGR 2.0 genes in this pathway
CHIANG LIVER CANCER SUBCLASS CTNNB1 DN 170 105 All SZGR 2.0 genes in this pathway
MIKKELSEN MEF LCP WITH H3K4ME3 128 68 All SZGR 2.0 genes in this pathway
HOSHIDA LIVER CANCER SUBCLASS S1 237 159 All SZGR 2.0 genes in this pathway
DANG REGULATED BY MYC DN 253 192 All SZGR 2.0 genes in this pathway
YAO TEMPORAL RESPONSE TO PROGESTERONE CLUSTER 16 79 47 All SZGR 2.0 genes in this pathway
KYNG RESPONSE TO H2O2 VIA ERCC6 UP 40 30 All SZGR 2.0 genes in this pathway
ZEMBUTSU SENSITIVITY TO METHOTREXATE 18 9 All SZGR 2.0 genes in this pathway
国外RB1增长目标 243 155 All SZGR 2.0 genes in this pathway
CHICAS RB1 TARGETS CONFLUENT 567 365 All SZGR 2.0 genes in this pathway
GREGORY SYNTHETIC LETHAL WITH IMATINIB 145 83 All SZGR 2.0 genes in this pathway
LU EZH2 TARGETS DN 414 237 All SZGR 2.0 genes in this pathway
HOELZEL NF1 TARGETS DN 115 73 All SZGR 2.0 genes in this pathway
DEMAGALHAES AGING DN 16 10 All SZGR 2.0 genes in this pathway
PILON KLF1 TARGETS UP 504 321 All SZGR 2.0 genes in this pathway
MIYAGAWA TARGETS OF EWSR1 ETS FUSIONS DN 229 135 All SZGR 2.0 genes in this pathway
KIM GLIS2 TARGETS UP 84 61 All SZGR 2.0 genes in this pathway
PASINI SUZ12 TARGETS DN 315 215 All SZGR 2.0 genes in this pathway
VANDESLUIS COMMD1 TARGETS GROUP 4 DN 16 11 All SZGR 2.0 genes in this pathway
BILANGES SERUM SENSITIVE VIA TSC2 39 25 All SZGR 2.0 genes in this pathway
SERVITJA ISLET HNF1A TARGETS UP 163 111 All SZGR 2.0 genes in this pathway
ANASTASSIOU CANCER MESENCHYMAL TRANSITION SIGNATURE 64 40 All SZGR 2.0 genes in this pathway
DURAND STROMA S UP 297 194 All SZGR 2.0 genes in this pathway
ZWANG TRANSIENTLY UP BY 2ND EGF PULSE ONLY 1725 838 All SZGR 2.0 genes in this pathway
NABA COLLAGENS 44 26 All SZGR 2.0 genes in this pathway
NABA CORE MATRISOME 275 148 All SZGR 2.0 genes in this pathway
NABA MATRISOME 1028 559 All SZGR 2.0 genes in this pathway
农民乳腺癌集群4 19 12 All SZGR 2.0 genes in this pathway