Summary ?
GeneID1282
SymbolCOL4A1
SynonymsBSVD|RATOR
Descriptioncollagen type IV alpha 1
ReferenceMIM:120130|HGNC:HGNC:2202|Ensembl:ENSG00000187498|HPRD:00359|Vega:OTTHUMG00000017342
Gene typeprotein-coding
Map location13q34
Pascal p-value0.757
Sherlock p-value0.758
eGeneMyers' cis & trans

Gene in Data Sources
Gene set name Method of gene setDescriptionInfo
CV:GWASdbGenome-wide Association StudiesGWASdb records for schizophrenia
CV:PGCnpGenome-wide Association StudyGWAS

Section I. Genetics and epigenetics annotation

@eQTL annotation

SNP IDChromosomePositioneGeneGene Entrez IDpvalueqvalueTSS distanceeQTL type
rs16846456chr3172757337COL4A112820.01trans
rs4484667chr877440301COL4A112820.06trans
rs12254965chr10127297037COL4A112820.07trans
rs11856277chr1529722087COL4A112820.18trans
rs4780219chr1529726087COL4A112820.16trans

Section II. Transcriptome annotation

General gene expression (GTEx)

Not available

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
CDAN10.840.83
GLIS20.830.89
SEMA4B0.820.84
NCAN0.810.85
RELA0.810.83
SEPN10.810.86
PLXNB20.800.89
ARSD0.800.79
HDAC60.800.81
ARHGEF10L0.800.82
Top 10 negatively co-expressed genes
GenePearson's Correlation Spearman's Correlation
C5orf53-0.63-0.68
ACOT13-0.60-0.66
FAM162A-0.57-0.64
AF347015.27-0.56-0.65
AF347015.31-0.55-0.65
CA4-0.54-0.57
CA11-0.54-0.63
S100B-0.54-0.61
B2M-0.54-0.64
MYL3-0.53-0.62

Section III. Gene Ontology annotation

Molecular functionGO termEvidenceNeuro keywordsPubMed ID
GO:0005488bindingIEA-
GO:0005201extracellular matrix structural constituentIEA-
Cellular componentGO termEvidenceNeuro keywordsPubMed ID
GO:0005576extracellular regionNAS14718574 
GO:0005581collagenIEA-
GO:0005604basement membraneIEA-

Section IV. Protein-protein interaction annotation

InteractorsAliases BOfficial full name BExperimentalSourcePubMed ID
ACHEARACHE | N-ACHE | YTacetylcholinesterase (Yt blood group)-HPRD12524166 
APPAAA | ABETA | ABPP | AD1 | APPI | CTFgamma | CVAP | PN2amyloid beta (A4) precursor protein-HPRD9136074 
CD93C1QR1 | C1qR(P) | C1qRP | CDw93 | MXRA4 | dJ737E23.1CD93 molecule-HPRD1377218 
COL4A1arrestencollagen, type IV, alpha 1-HPRD,BioGRID12011424 
COL4A2DKFZp686I14213 | FLJ22259collagen, type IV, alpha 2-HPRD,BioGRID12011424 
COL7A1EBD1 | EBDCT | EBR1collagen, type VII, alpha 1-HPRD,BioGRID9169408 
DCNCSCD | DSPG2 | PG40 | PGII | PGS2 | SLRR1Bdecorin-HPRD10382266 
DISC1C1orf136 | FLJ13381 | FLJ21640 | FLJ25311 | FLJ41105 | KIAA0457 | SCZD9disrupted in schizophrenia 1Two-hybridBioGRID12812986 
FBLN2-fibulin 2-HPRD,BioGRID7500359 
FN1CIG | DKFZp686F10164 | DKFZp686H0342 | DKFZp686I1370 | DKFZp686O13149 | ED-B | FINC | FN | FNZ | GFND | GFND2 | LETS | MSFfibronectin 1-HPRD3997552 
HABP2FSAP | HABP | HGFAL | PHBPhyaluronan binding protein 2-HPRD,BioGRID1724753 
MAGGMA | S-MAG | SIGLEC-4A | SIGLEC4Amyelin associated glycoproteinReconstituted ComplexBioGRID2446864 
MATN2-matrilin 2-HPRD12180907 
MMP9CLG4B | GELB | MMP-9matrix metallopeptidase 9 (gelatinase B, 92kDa gelatinase, 92kDa type IV collagenase)-HPRD,BioGRID9878537 
NID1NIDnidogen 1Reconstituted ComplexBioGRID9733643 
NID2-nidogen 2 (osteonidogen)Reconstituted ComplexBioGRID9733643 
OSMMGC20461oncostatin M-HPRD,BioGRID11711546 
SAA1MGC111216 | PIG4 | SAA | TP53I4serum amyloid A1-HPRD8995276 
SERPINE2GDN | PI7 | PN1 | PNIserpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 2-HPRD,BioGRID8006028 
TGFBIBIGH3 | CDB1 | CDG2 | CDGG1 | CSD | CSD1 | CSD2 | CSD3 | EBMD | LCD1transforming growth factor, beta-induced, 68kDa-HPRD11867580 
THBS1THBS | TSP | TSP1thrombospondin 1Reconstituted ComplexBioGRID3571333 


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
KEGG PATHWAYS IN CANCER 328259All SZGR 2.0 genes in this pathway
KEGG SMALL CELL LUNG CANCER 8467All SZGR 2.0 genes in this pathway
BIOCARTA AMI PATHWAY 2013All SZGR 2.0 genes in this pathway
BIOCARTA ACE2 PATHWAY 137All SZGR 2.0 genes in this pathway
BIOCARTA INTRINSIC PATHWAY 2315All SZGR 2.0 genes in this pathway
BIOCARTA PLATELETAPP PATHWAY 1410All SZGR 2.0 genes in this pathway
BIOCARTA VITCB PATHWAY 116All SZGR 2.0 genes in this pathway
PID INTEGRIN1 PATHWAY 6644All SZGR 2.0 genes in this pathway
PID INTEGRIN3 PATHWAY 4325All 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 INTEGRIN CELL SURFACE INTERACTIONS 7948All 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 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
LIU PROSTATE CANCER DN 481290All SZGR 2.0 genes in this pathway
ONKEN UVEAL MELANOMA UP 783507All SZGR 2.0 genes in this pathway
SCHUETZ BREAST CANCER DUCTAL INVASIVE UP 351230All 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 LOBULAR CARCINOMA VS LOBULAR NORMAL DN 7442All SZGR 2.0 genes in this pathway
ZHOU INFLAMMATORY RESPONSE LIVE UP 485293All SZGR 2.0 genes in this pathway
CHARAFE BREAST CANCER LUMINAL VS BASAL DN 455304All SZGR 2.0 genes in this pathway
CHARAFE BREAST CANCER LUMINAL VS MESENCHYMAL DN 460312All SZGR 2.0 genes in this pathway
ROY WOUND BLOOD VESSEL UP 5030All SZGR 2.0 genes in this pathway
HORIUCHI WTAP TARGETS UP 306188All SZGR 2.0 genes in this pathway
VECCHI GASTRIC CANCER ADVANCED VS EARLY UP 175120All SZGR 2.0 genes in this pathway
KINSEY TARGETS OF EWSR1 FLII FUSION UP 1278748All 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
LANDIS BREAST CANCER PROGRESSION DN 7043All SZGR 2.0 genes in this pathway
CHIARADONNA NEOPLASTIC TRANSFORMATION CDC25 DN 153100All SZGR 2.0 genes in this pathway
BERENJENO ROCK SIGNALING NOT VIA RHOA DN 4834All SZGR 2.0 genes in this pathway
VANHARANTA UTERINE FIBROID UP 4526All SZGR 2.0 genes in this pathway
LANDIS ERBB2 BREAST TUMORS 324 DN 14993All SZGR 2.0 genes in this pathway
PATIL LIVER CANCER 747453All SZGR 2.0 genes in this pathway
BORLAK LIVER CANCER EGF UP 5741All SZGR 2.0 genes in this pathway
OXFORD RALA AND RALB TARGETS DN 95All SZGR 2.0 genes in this pathway
LI WILMS TUMOR VS FETAL KIDNEY 2 DN 5142All SZGR 2.0 genes in this pathway
KHETCHOUMIAN TRIM24 TARGETS UP 4738All SZGR 2.0 genes in this pathway
BUYTAERT PHOTODYNAMIC THERAPY STRESS DN 637377All SZGR 2.0 genes in this pathway
WU CELL MIGRATION 184114All SZGR 2.0 genes in this pathway
GOTZMANN EPITHELIAL TO MESENCHYMAL TRANSITION UP 6955All SZGR 2.0 genes in this pathway
AMIT EGF RESPONSE 480 HELA 164118All SZGR 2.0 genes in this pathway
ROZANOV MMP14 TARGETS SUBSET 3320All SZGR 2.0 genes in this pathway
ROZANOV MMP14 TARGETS UP 266171All SZGR 2.0 genes in this pathway
TARTE PLASMA CELL VS PLASMABLAST UP 398262All SZGR 2.0 genes in this pathway
UEDA PERIFERAL CLOCK 169111All SZGR 2.0 genes in this pathway
CHESLER BRAIN HIGHEST GENETIC VARIANCE 3721All SZGR 2.0 genes in this pathway
FERNANDEZ BOUND BY MYC 182116All SZGR 2.0 genes in this pathway
SWEET KRAS TARGETS UP 8451All SZGR 2.0 genes in this pathway
LEE LIVER CANCER CIPROFIBRATE UP 6042All SZGR 2.0 genes in this pathway
BYSTRYKH HEMATOPOIESIS STEM CELL QTL TRANS 882572All SZGR 2.0 genes in this pathway
MANALO HYPOXIA UP 207145All SZGR 2.0 genes in this pathway
LEE LIVER CANCER DENA UP 6040All SZGR 2.0 genes in this pathway
FLECHNER BIOPSY KIDNEY TRANSPLANT OK VS DONOR UP 555346All SZGR 2.0 genes in this pathway
CROMER METASTASIS UP 7946All SZGR 2.0 genes in this pathway
IGLESIAS E2F TARGETS UP 151103All SZGR 2.0 genes in this pathway
BLALOCK ALZHEIMERS DISEASE DN 1237837All SZGR 2.0 genes in this pathway
MODY HIPPOCAMPUS NEONATAL 3525All SZGR 2.0 genes in this pathway
YAMAZAKI TCEB3 TARGETS UP 175116All SZGR 2.0 genes in this pathway
IVANOVA HEMATOPOIESIS STEM CELL 254164All SZGR 2.0 genes in this pathway
BURTON ADIPOGENESIS 2 7252All SZGR 2.0 genes in this pathway
TSENG IRS1 TARGETS DN 13588All SZGR 2.0 genes in this pathway
BLALOCK ALZHEIMERS DISEASE INCIPIENT DN 165106All SZGR 2.0 genes in this pathway
LEE CALORIE RESTRICTION NEOCORTEX DN 8858All SZGR 2.0 genes in this pathway
DEBIASI APOPTOSIS BY REOVIRUS INFECTION DN 287208All SZGR 2.0 genes in this pathway
BACOLOD RESISTANCE TO ALKYLATING AGENTS DN 6045All SZGR 2.0 genes in this pathway
DOUGLAS BMI1 TARGETS UP 566371All SZGR 2.0 genes in this pathway
IWANAGA CARCINOGENESIS BY KRAS PTEN DN 353226All SZGR 2.0 genes in this pathway
ACEVEDO LIVER CANCER UP 973570All SZGR 2.0 genes in this pathway
ACEVEDO LIVER TUMOR VS NORMAL ADJACENT TISSUE UP 863514All SZGR 2.0 genes in this pathway
ZHENG GLIOBLASTOMA PLASTICITY DN 5839All SZGR 2.0 genes in this pathway
GRADE COLON AND RECTAL CANCER UP 285167All SZGR 2.0 genes in this pathway
CROMER TUMORIGENESIS UP 6336All SZGR 2.0 genes in this pathway
TSAI RESPONSE TO RADIATION THERAPY 3220All SZGR 2.0 genes in this pathway
GU PDEF TARGETS UP 7149All SZGR 2.0 genes in this pathway
ICHIBA GRAFT VERSUS HOST DISEASE D7 UP 10767All SZGR 2.0 genes in this pathway
CHEN METABOLIC SYNDROM NETWORK 1210725All SZGR 2.0 genes in this pathway
MILI PSEUDOPODIA CHEMOTAXIS DN 457302All SZGR 2.0 genes in this pathway
MILI PSEUDOPODIA HAPTOTAXIS DN 668419All SZGR 2.0 genes in this pathway
CROONQUIST NRAS VS STROMAL STIMULATION DN 9965All SZGR 2.0 genes in this pathway
HOSHIDA LIVER CANCER SURVIVAL UP 7349All SZGR 2.0 genes in this pathway
NAKAYAMA FGF2 TARGETS 2917All SZGR 2.0 genes in this pathway
HOSHIDA LIVER CANCER SUBCLASS S1 237159All SZGR 2.0 genes in this pathway
DANG BOUND BY MYC 1103714All SZGR 2.0 genes in this pathway
WONG ADULT TISSUE STEM MODULE 721492All SZGR 2.0 genes in this pathway
YAO TEMPORAL RESPONSE TO PROGESTERONE CLUSTER 16 7947All SZGR 2.0 genes in this pathway
LU EZH2 TARGETS DN 414237All SZGR 2.0 genes in this pathway
KANG AR TARGETS UP 1710All SZGR 2.0 genes in this pathway
PILON KLF1 TARGETS UP 504321All SZGR 2.0 genes in this pathway
BRUINS UVC RESPONSE VIA TP53 GROUP B 549316All SZGR 2.0 genes in this pathway
BRUINS UVC RESPONSE LATE 1137655All SZGR 2.0 genes in this pathway
KIM GLIS2 TARGETS UP 8461All SZGR 2.0 genes in this pathway
WAKABAYASHI ADIPOGENESIS PPARG RXRA BOUND 8D 882506All SZGR 2.0 genes in this pathway
DELACROIX RAR BOUND ES 462273All SZGR 2.0 genes in this pathway
LIM MAMMARY STEM CELL UP 489314All SZGR 2.0 genes in this pathway
LIM MAMMARY LUMINAL MATURE DN 9974All SZGR 2.0 genes in this pathway
ZWANG CLASS 1 TRANSIENTLY INDUCED BY EGF 516308All 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 BASEMENT MEMBRANES 4022All SZGR 2.0 genes in this pathway
NABA MATRISOME 1028559All SZGR 2.0 genes in this pathway

Section VI. microRNA annotation

miRNA familyTarget positionmiRNA IDmiRNA seq
UTR startUTR endMatch method
let-7/9888941Ahsa-let-7abrainUGAGGUAGUAGGUUGUAUAGUU
hsa-let-7bbrainUGAGGUAGUAGGUUGUGUGGUU
hsa-let-7cbrainUGAGGUAGUAGGUUGUAUGGUU
hsa-let-7dbrainAGAGGUAGUAGGUUGCAUAGU
hsa-let-7ebrainUGAGGUAGGAGGUUGUAUAGU
hsa-let-7fbrainUGAGGUAGUAGAUUGUAUAGUU
hsa-miR-98brainUGAGGUAGUAAGUUGUAUUGUU
hsa-let-7gSZUGAGGUAGUAGUUUGUACAGU
hsa-let-7ibrainUGAGGUAGUAGUUUGUGCUGU
miR-124.1119125m8hsa-miR-124aUUAAGGCACGCGGUGAAUGCCA
miR-124/5061181251A,m8hsa-miR-506UAAGGCACCCUUCUGAGUAGA
hsa-miR-124brainUAAGGCACGCGGUGAAUGCC
miR-2051741801Ahsa-miR-205UCCUUCAUUCCACCGGAGUCUG
miR-293083141Ahsa-miR-29aSZUAGCACCAUCUGAAAUCGGUU
hsa-miR-29bSZUAGCACCAUUUGAAAUCAGUGUU
hsa-miR-29cSZUAGCACCAUUUGAAAUCGGU
hsa-miR-29aSZUAGCACCAUCUGAAAUCGGUU
hsa-miR-29bSZUAGCACCAUUUGAAAUCAGUGUU
hsa-miR-29cSZUAGCACCAUUUGAAAUCGGU
miR-381129212981Ahsa-miR-381UAUACAAGGGCAAGCUCUCUGU
miR-4106556611Ahsa-miR-410AAUAUAACACAGAUGGCCUGU