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TissGeneSummary for COL4A3 |
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Basic gene information | Gene symbol | COL4A3 |
Gene name | collagen, type IV, alpha 3 (Goodpasture antigen) | |
Synonyms | - | |
Cytomap | UCSC genome browser: 2q36-q37 | |
Type of gene | protein-coding | |
RefGenes | NM_000091.4, NM_031362.2,NM_031363.1,NM_031364.1,NM_031365.2, NM_031366.2, | |
Description | collagen IV, alpha-3 polypeptidecollagen alpha-3(IV) chaintumstatin | |
Modification date | 20141219 | |
dbXrefs | MIM : 120070 | |
HGNC : HGNC | ||
Ensembl : ENSG00000169031 | ||
HPRD : 00354 | ||
Vega : OTTHUMG00000149891 | ||
Protein | UniProt: go to UniProt's Cross Reference DB Table | |
Expression | CleanEX: HS_COL4A3 | |
BioGPS: 1285 | ||
Pathway | NCI Pathway Interaction Database: COL4A3 | |
KEGG: COL4A3 | ||
REACTOME: COL4A3 | ||
Pathway Commons: COL4A3 | ||
Context | iHOP: COL4A3 | |
ligand binding site mutation search in PubMed: COL4A3 | ||
UCL Cancer Institute: COL4A3 | ||
Assigned class in TissGDB* | C | |
Included tissue-specific gene expression resources | TiGER,GTEx | |
Specific-tissues in normal samples (assigned by TissGDB using HPA, TiGER, and GTEx) | KidneyEye | |
Cancer types related to the specific-tissues in cancer samples (assigned by TissGDB using TCGA) | KIRC,KIRP,KICHUVM | |
Reference showing the relevant tissue of COL4A3 | ||
Description by TissGene annotations | Protective TissGene in OS Protective TissGene in RFS |
* Class A consists of genes with literature evidence and is part of the cTissGenes. Class B consists of only cTissGenes without additional evidence. The remaining genes belong to Class C. |
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GO ID | GO term | PubMed ID | GO:0006919 | activation of cysteine-type endopeptidase activity involved in apoptotic process | 10766752 | GO:0008283 | cell proliferation | 10766752 | GO:0016525 | negative regulation of angiogenesis | 10766752 | GO:0072577 | endothelial cell apoptotic process | 10766752 | GO:0006919 | activation of cysteine-type endopeptidase activity involved in apoptotic process | 10766752 | GO:0008283 | cell proliferation | 10766752 | GO:0016525 | negative regulation of angiogenesis | 10766752 | GO:0072577 | endothelial cell apoptotic process | 10766752 |
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TissGeneExp for COL4A3 |
![]() (TCGA IlluminaHiSeq_RNASeqV2, pan-cancer normalized log2(norm_counts+1) data, version 2016-08-16) |
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![]() (TCGA pan-cancer tcga_rsem_isoform_tpm, version 2016-09-01) |
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![]() (GTEx GTEx_Analysis_v6_RNA-seq_RNA-SeQCv1.1.8_gene_rpkm.gct) - Here, we shows the matched tissue types only among our 28 cancer types. |
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![]() (TCGA IlluminaHiSeq_RNASeqV2, pan-cancer normalized log2(norm_counts+1) data, version 2016-08-16) |
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- Significantly differentially expressed cancer types and information. (|Fold change|>1 and FDR<0.05) |
Cancer type | Mean(exp) in tumor | Mean(exp) in matched normal | Log2FC | P-val. | FDR |
LUAD | 1.157757706 | 4.520293913 | -3.362536207 | 5.37E-19 | 8.99E-18 |
BRCA | -2.873949887 | -0.875891992 | -1.998057895 | 1.12E-16 | 6.44E-16 |
KIRP | 3.092806089 | 5.256318589 | -2.1635125 | 1.89E-13 | 3.47E-12 |
KICH | 3.515606464 | 5.341070464 | -1.825464 | 6.71E-07 | 2.58E-06 |
BLCA | -3.369672694 | -0.073793746 | -3.295878947 | 1.52E-09 | 2.41E-07 |
KIRC | 2.202379353 | 5.021661298 | -2.819281944 | 1.56E-26 | 2.16E-25 |
LUSC | -0.934817379 | 4.378508111 | -5.31332549 | 6.46E-24 | 1.22E-22 |
LIHC | -2.700779536 | -1.501891536 | -1.198888 | 0.000953 | 0.002629333 |
COAD | -2.863244151 | -1.570251843 | -1.292992308 | 0.000849 | 0.002480212 |
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TissGene-miRNA for COL4A3 |
![]() (Gene-miRNA relations from TargetScanHuman Relsease 7.1, Conserved_Site_Context_Scores.txt.zip, 06.01.2016) (TCGA IlluminaHiSeq_miRNASeq, log2(RPM+1) data, version 2016-11-21) (TCGA IlluminaHiSeq_RNASeqV2, log2(normalized_count+1) data, version 2016-08-16) (Spearman’s Rank Correlation (p-value<0.05 and coefficient<-0.25)) |
Cancer type | miRNA id | miRNA accession | P-val. | Coeff. | # samples |
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TissGeneMut for COL4A3 |
TissGeneSNV for COL4A3 |
![]() Different colors of circles represent different cancer types. Circle size denotes number of samples. (TCGA somatic mutation (SNPs and small INDELs) data, version 2016-04-25) * Click on the image to enlarge it in a new window. |
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![]() (X-axis: cancer type and Y-axis: % of mutated samples) The numbers in parentheses are numbers of samples with mutation (nsSNVs). (TCGA somatic mutation (SNPs and small INDELs) data, version 2016-04-25) |
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- nsSNVs sorted by frequency. |
AAchange | Cancer type | # samples |
p.G622E | SKCM | 3 |
p.G940E | SKCM | 2 |
p.P54S | SARC | 2 |
p.G1463R | SKCM | 2 |
p.R1609Q | SKCM | 2 |
p.G401E | SKCM | 2 |
p.G265E | SKCM | 2 |
p.G622R | SKCM | 2 |
p.G436E | SKCM | 1 |
p.R368H | STAD | 1 |
p.G1083E | HNSC | 1 |
p.G1231D | UCEC | 1 |
p.G1391D | SKCM | 1 |
p.T629M | BRCA | 1 |
p.L322I | BRCA | 1 |
p.K725I | SKCM | 1 |
p.E743K | SKCM | 1 |
p.E286Q | BLCA | 1 |
p.G880E | SKCM | 1 |
p.E325G | STAD | 1 |
p.G1077D | SKCM | 1 |
p.K261R | GBM | 1 |
p.G58S | SKCM | 1 |
p.G366E | SKCM | 1 |
p.G1222E | SKCM | 1 |
p.G94E | SKCM | 1 |
p.G842E | SKCM | 1 |
p.P1145S | SKCM | 1 |
p.G1146A | CESC | 1 |
p.G1415E | SKCM | 1 |
p.R406* | STAD | 1 |
p.R1293C | STAD | 1 |
p.P522S | STAD | 1 |
p.G1054R | SKCM | 1 |
p.R1293H | LUAD | 1 |
p.G265E | ESCA | 1 |
p.P1109L | PAAD | 1 |
p.E539* | UCEC | 1 |
p.M893I | LUSC | 1 |
p.D326Y | COAD | 1 |
p.P667S | ESCA | 1 |
p.E356K | HNSC | 1 |
p.R444C | COAD | 1 |
p.L234S | HNSC | 1 |
p.G1083E | LUSC | 1 |
p.G889* | LUSC | 1 |
p.P663L | LIHC | 1 |
p.G526S | STAD | 1 |
p.R1496* | UCEC | 1 |
p.G976E | SKCM | 1 |
p.G1080E | SKCM | 1 |
p.P1066S | LUAD | 1 |
p.G303D | SKCM | 1 |
p.A1252V | COAD | 1 |
p.P308H | SARC | 1 |
p.G1195E | BLCA | 1 |
p.D1193Y | LIHC | 1 |
p.R1481Q | SKCM | 1 |
p.S1413F | ESCA | 1 |
p.E405V | LUSC | 1 |
p.G715S | SKCM | 1 |
p.A1252T | HNSC | 1 |
p.P179L | BLCA | 1 |
p.A1166V | UCEC | 1 |
p.N1323Y | LUAD | 1 |
p.G186S | SKCM | 1 |
p.G37D | READ | 1 |
p.K298N | HNSC | 1 |
p.G1412D | HNSC | 1 |
p.P598S | SKCM | 1 |
p.H666Y | MESO | 1 |
p.N1517K | UCEC | 1 |
p.T1489N | DLBC | 1 |
p.G43R | COAD | 1 |
p.S1272F | SARC | 1 |
p.G599A | BLCA | 1 |
p.P199T | LUSC | 1 |
p.P966S | SKCM | 1 |
p.P1645S | KIRC | 1 |
p.G174R | BLCA | 1 |
p.G1268A | BLCA | 1 |
p.A1557T | UCEC | 1 |
p.P1568H | UCEC | 1 |
p.L648I | UCEC | 1 |
p.G508C | THYM | 1 |
p.D35H | LUSC | 1 |
p.V1507A | THYM | 1 |
p.D440V | HNSC | 1 |
p.G410E | SKCM | 1 |
p.L257I | UCEC | 1 |
p.D600N | SKCM | 1 |
p.G964R | SKCM | 1 |
p.T1172M | UCEC | 1 |
p.K45R | UCEC | 1 |
p.G1242C | ESCA | 1 |
p.L1327I | UCEC | 1 |
p.G877E | SKCM | 1 |
p.G186D | SKCM | 1 |
p.G1080R | SKCM | 1 |
p.V1560I | STAD | 1 |
p.T1489S | HNSC | 1 |
p.L1356V | UCEC | 1 |
p.P397S | LUAD | 1 |
p.Q864R | UCEC | 1 |
p.G780V | KIRP | 1 |
p.R341H | UCEC | 1 |
p.M414I | SKCM | 1 |
p.R1669T | HNSC | 1 |
p.E641K | LUAD | 1 |
p.S764Y | UCEC | 1 |
p.M1020V | STAD | 1 |
p.G1107E | SKCM | 1 |
p.G1128S | SKCM | 1 |
p.G634X | COAD | 1 |
p.G262R | SKCM | 1 |
p.H666Q | SKCM | 1 |
p.P697S | SKCM | 1 |
p.A1252V | SKCM | 1 |
p.A1557T | HNSC | 1 |
p.P432L | KIRC | 1 |
p.P858L | OV | 1 |
p.Q627H | LUAD | 1 |
p.E1084K | SKCM | 1 |
p.P237T | LUSC | 1 |
p.G856E | UCEC | 1 |
p.R391K | SKCM | 1 |
p.E311D | COAD | 1 |
p.G970E | SKCM | 1 |
p.G706E | SKCM | 1 |
p.G1027E | SKCM | 1 |
p.M267I | LUAD | 1 |
p.K1028R | SKCM | 1 |
p.G608E | SKCM | 1 |
p.R341C | COAD | 1 |
p.G455C | ESCA | 1 |
p.L983H | HNSC | 1 |
p.R791Q | BLCA | 1 |
p.N253D | CHOL | 1 |
p.L787F | UCEC | 1 |
p.A1252V | UCEC | 1 |
p.G892E | SKCM | 1 |
p.L521V | CESC | 1 |
p.V1465M | LGG | 1 |
p.G1173D | UCEC | 1 |
p.G1065E | SKCM | 1 |
p.G484V | KIRP | 1 |
p.P644L | SKCM | 1 |
p.P337L | SKCM | 1 |
p.G97R | LUAD | 1 |
p.F1642L | UCEC | 1 |
p.T929A | SKCM | 1 |
p.G640R | COAD | 1 |
p.E887V | BLCA | 1 |
p.V923I | SARC | 1 |
p.I843N | BRCA | 1 |
p.G436R | SKCM | 1 |
p.E866K | SKCM | 1 |
p.T87M | HNSC | 1 |
p.G575* | LUSC | 1 |
p.R1609Q | STAD | 1 |
p.L278Q | LUAD | 1 |
p.A1456T | UCEC | 1 |
p.G201E | SKCM | 1 |
p.G100R | SKCM | 1 |
p.Q914H | LUAD | 1 |
p.D1269H | BLCA | 1 |
p.G58S | HNSC | 1 |
p.L1474V | CESC | 1 |
p.P1197Q | LUSC | 1 |
p.K725R | SKCM | 1 |
p.P370L | SKCM | 1 |
p.E1171K | PRAD | 1 |
p.E1407X | COAD | 1 |
p.G1089D | SKCM | 1 |
p.G1430R | HNSC | 1 |
p.G1391S | SKCM | 1 |
p.L983Q | HNSC | 1 |
p.G227R | SKCM | 1 |
p.P147L | CESC | 1 |
p.P181H | BLCA | 1 |
p.K226E | STAD | 1 |
p.D440N | HNSC | 1 |
p.P534Q | LUSC | 1 |
p.R1029K | STAD | 1 |
p.G339R | SKCM | 1 |
p.M1500I | KIRC | 1 |
p.L687I | UCEC | 1 |
p.R406X | STAD | 1 |
p.D953H | HNSC | 1 |
p.D568N | PRAD | 1 |
p.G336C | SARC | 1 |
p.G964E | SKCM | 1 |
p.P944H | UCEC | 1 |
p.W1441* | BLCA | 1 |
p.R1619I | BLCA | 1 |
p.Q62K | LUAD | 1 |
p.G1051E | SKCM | 1 |
p.G662E | SKCM | 1 |
p.P879L | LIHC | 1 |
p.D334G | UCEC | 1 |
p.A1252V | STAD | 1 |
p.P54L | SARC | 1 |
p.E1084K | BLCA | 1 |
p.P574L | COAD | 1 |
p.G1030E | SKCM | 1 |
p.Q1087H | LUAD | 1 |
p.E260G | STAD | 1 |
p.S649R | HNSC | 1 |
p.A1296S | LUAD | 1 |
p.G646X | LIHC | 1 |
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TissGeneCNV for COL4A3 |
![]() (TCGA Gistic2_CopyNumber_Gistic2_all_data_by_genes, Gistic2 copy number data, version 2016-08-16) |
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TissGeneFusions for COL4A3 |
![]() (ChimerDB 3.0, 2016-12-01 and TCGA fusion Portal 2015-12-01) |
Database | Src | Cancer type | Sample | Fusion gene | ORF | 5'-gene BP | 3'-gene BP |
TCGAfusionPortal | PRADA | HNSC | TCGA-CV-7433-01A | MFF-COL4A3 | 5UTR-CDS | Chr2:228193505 | Chr2:228147081 |
TCGAfusionPortal | PRADA | LUSC | TCGA-34-5236-01A | EPHA4-COL4A3 | Out-of-frame | Chr2:222428451 | Chr2:228102684 |
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TissGeneNet for COL4A3 |
![]() (TCGA IlluminaHiSeq_RNASeqV2, pan-cancer normalized log2(norm_counts+1) data, version 2016-08-16) (PINA2 ppi data) |
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TissGeneProg for COL4A3 |
![]() (TCGA IlluminaHiSeq_RNASeqV2, pan-cancer normalized log2(norm_counts+1) data, version 2016-08-16) (TCGA clinicalMatrix, phenotype data, version 2016-04-27) * Click on the image to enlarge it in a new window. |
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![]() (TCGA IlluminaHiSeq_RNASeqV2, pan-cancer normalized log2(norm_counts+1) data, version 2016-08-16) (TCGA clinicalMatrix, phenotype data, version 2016-04-27) * Click on the image enlarge it in a new window. |
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![]() (TCGA IlluminaHiSeq_RNASeqV2, pan-cancer normalized log2(norm_counts+1) data, version 2016-08-16) (TCGA clinicalMatrix, phenotype data, version 2016-04-27) * Click on the image enlarge it in a new window. |
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![]() (TCGA IlluminaHiSeq_RNASeqV2, pan-cancer normalized log2(norm_counts+1) data, version 2016-08-16) (TCGA clinicalMatrix, phenotype data, version 2016-04-27) * Click on the image enlarge it in a new window. |
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TissGeneClin for COL4A3 |
TissGeneDrug for COL4A3 |
![]() (DrugBank Version 5.0.6, 2017-04-01) |
DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
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TissGeneDisease for COL4A3 |
![]() (DisGeNet, 2016-06-01) |
Disease ID | Disease name | # pubmeds | Source |
umls:C1567741 | Alport Syndrome | 43 | BeFree |
umls:C0403440 | Thin basement membrane disease | 22 | BeFree |
umls:C1567744 | Alport Syndrome, Autosomal Recessive | 19 | BeFree,CLINVAR,MGD,ORPHANET,UNIPROT |
umls:C0027706 | Hereditary nephritis | 11 | BeFree,CTD_human,LHGDN |
umls:C0022658 | Kidney Diseases | 10 | BeFree |
umls:C0241908 | Hematuria, Benign Familial | 10 | BeFree,CTD_human,UNIPROT |
umls:C1567742 | Alport Syndrome, X-Linked | 7 | BeFree |
umls:C0017668 | Focal glomerulosclerosis | 6 | BeFree |
umls:C0022661 | Kidney Failure, Chronic | 6 | BeFree,LHGDN |
umls:C0035078 | Kidney Failure | 5 | BeFree |
umls:C1305904 | Familial hematuria | 5 | BeFree |
umls:C1519670 | Tumor Angiogenesis | 4 | BeFree |
umls:C1567743 | Alport Syndrome, Autosomal Dominant | 4 | BeFree,CLINVAR,ORPHANET,UNIPROT |
umls:C0007134 | Renal Cell Carcinoma | 3 | BeFree |
umls:C0017658 | Glomerulonephritis | 3 | BeFree,LHGDN,RGD |
umls:C0022578 | Keratoconus | 3 | BeFree,GAD |
umls:C0238157 | Benign hematuria | 3 | BeFree |
umls:C0007131 | Non-Small Cell Lung Carcinoma | 2 | BeFree |
umls:C0008495 | Chorioamnionitis | 2 | GAD |
umls:C0015944 | Fetal Membranes, Premature Rupture | 2 | GAD |
umls:C0017638 | Glioma | 2 | BeFree |
umls:C0027627 | Neoplasm Metastasis | 2 | BeFree |
umls:C0151650 | Renal fibrosis | 2 | BeFree |
umls:C0403529 | Anti-Glomerular Basement Membrane Disease | 2 | BeFree |
umls:C1378703 | Renal carcinoma | 2 | BeFree |
umls:C1561643 | Chronic Kidney Diseases | 2 | BeFree |
umls:C1565489 | Renal Insufficiency | 2 | BeFree |
umls:C2316810 | Chronic kidney disease stage 5 | 2 | BeFree |
umls:C2919032 | Infection of amniotic sac and membranes, unspecified, unspecified trimester, not applicable or unspecified | 2 | GAD |
umls:C0000768 | Congenital Abnormality | 1 | BeFree |
umls:C0001973 | Alcoholic Intoxication, Chronic | 1 | GAD |
umls:C0004096 | Asthma | 1 | BeFree |
umls:C0007137 | Squamous cell carcinoma | 1 | BeFree |
umls:C0018965 | Hematuria | 1 | LHGDN |
umls:C0022876 | Premature Obstetric Labor | 1 | GAD |
umls:C0024117 | Chronic Obstructive Airway Disease | 1 | GAD,LHGDN |
umls:C0024232 | Lymphatic Metastasis | 1 | BeFree |
umls:C0025202 | melanoma | 1 | BeFree |
umls:C0027697 | Nephritis | 1 | BeFree |
umls:C0027726 | Nephrotic Syndrome | 1 | BeFree |
umls:C0032914 | Pre-Eclampsia | 1 | GAD |
umls:C0151526 | Premature Birth | 1 | GAD |
umls:C0153381 | Malignant neoplasm of mouth | 1 | BeFree |
umls:C0220641 | Lip and Oral Cavity Carcinoma | 1 | BeFree |
umls:C0221239 | Rapidly progressive glomerulonephritis | 1 | BeFree |
umls:C0243038 | Carcinoma, Lewis Lung | 1 | BeFree |
umls:C0280217 | stage, non-small cell lung cancer | 1 | BeFree |
umls:C0333497 | Segmental glomerulosclerosis | 1 | BeFree |
umls:C0339284 | Polymorphous corneal dystrophy | 1 | BeFree |
umls:C0376358 | Malignant neoplasm of prostate | 1 | BeFree |
umls:C0403416 | Idiopathic crescentic glomerulonephritis | 1 | BeFree |
umls:C0403447 | Chronic Kidney Insufficiency | 1 | BeFree |
umls:C0544008 | Chandler syndrome | 1 | BeFree |
umls:C0600139 | Prostate carcinoma | 1 | BeFree |
umls:C0699790 | Colon Carcinoma | 1 | BeFree |
umls:C1836876 | Pierson syndrome | 1 | BeFree |
umls:C2239176 | Liver carcinoma | 1 | BeFree |
umls:C2931253 | Alport syndrome, dominant type | 0 | ORPHANET |
umls:C2931254 | Alport syndrome, recessive type | 0 | CTD_human |