TissGeneSummary for COL4A4 |
Gene summary |
Basic gene information | Gene symbol | COL4A4 |
Gene name | collagen, type IV, alpha 4 | |
Synonyms | CA44 | |
Cytomap | UCSC genome browser: 2q35-q37 | |
Type of gene | protein-coding | |
RefGenes | NM_000092.4, | |
Description | Collagen IV, alpha-4 polypeptidecollagen alpha-4(IV) chaincollagen of basement membrane, alpha-4 chain | |
Modification date | 20141219 | |
dbXrefs | MIM : 120131 | |
HGNC : HGNC | ||
Ensembl : ENSG00000081052 | ||
HPRD : 00360 | ||
Vega : OTTHUMG00000149892 | ||
Protein | UniProt: go to UniProt's Cross Reference DB Table | |
Expression | CleanEX: HS_COL4A4 | |
BioGPS: 1286 | ||
Pathway | NCI Pathway Interaction Database: COL4A4 | |
KEGG: COL4A4 | ||
REACTOME: COL4A4 | ||
Pathway Commons: COL4A4 | ||
Context | iHOP: COL4A4 | |
ligand binding site mutation search in PubMed: COL4A4 | ||
UCL Cancer Institute: COL4A4 | ||
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) | KidneyLiver | |
Cancer types related to the specific-tissues in cancer samples (assigned by TissGDB using TCGA) | KIRC,KIRP,KICHLIHC | |
Reference showing the relevant tissue of COL4A4 | ||
Description by TissGene annotations |
* 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. |
Gene ontology having evidence of Inferred from Direct Assay (IDA) from Entrez |
GO ID | GO term | PubMed ID |
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TissGeneExp for COL4A4 |
Gene expressions across 28 cancer types (X-axis: cancer type and Y-axis: log2(norm_counts+1)) (TCGA IlluminaHiSeq_RNASeqV2, pan-cancer normalized log2(norm_counts+1) data, version 2016-08-16) |
Gene isoform expressions across 28 cancer types (X-axis: cancer type and Y-axis: log2(norm_counts+1)) (TCGA pan-cancer tcga_rsem_isoform_tpm, version 2016-09-01) |
Gene expressions across normal tissues of GTEx data (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. |
Different expressions across 14 cancer types with more than 10 samples between matched tumors and normals (X-axis: cancer type and Y-axis: log2(norm_counts+1)) (TCGA IlluminaHiSeq_RNASeqV2, pan-cancer normalized log2(norm_counts+1) data, version 2016-08-16) |
- 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 |
BRCA | -0.649340484 | 0.48509899 | -1.134439474 | 2.66E-09 | 9.27E-09 |
BLCA | -1.24150715 | 1.793434955 | -3.034942105 | 3.29E-06 | 8.41E-05 |
KIRP | 3.860304692 | 5.177610942 | -1.31730625 | 1.13E-06 | 5.66E-06 |
KIRC | 2.909188025 | 5.289618581 | -2.380430556 | 3.41E-27 | 5.03E-26 |
LUSC | 0.508233613 | 4.396347339 | -3.888113725 | 3.01E-19 | 3.20E-18 |
LIHC | -0.414522308 | 1.057637692 | -1.47216 | 3.30E-06 | 1.59E-05 |
LUAD | 2.385600381 | 4.565143485 | -2.179543103 | 1.26E-15 | 1.37E-14 |
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TissGene-miRNA for COL4A4 |
Significantly anti-correlated miRNAs of TissGene across 28 cancer types (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 COL4A4 |
TissGeneSNV for COL4A4 |
nsSNV counts per each loci. 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. |
Somatic nucleotide variants of TissGene across 28 cancer types (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) |
- nsSNVs sorted by frequency. |
AAchange | Cancer type | # samples |
p.G1204E | SKCM | 4 |
p.P892L | SKCM | 3 |
p.P917S | SKCM | 3 |
p.G479E | SKCM | 3 |
p.G1011E | SKCM | 3 |
p.G757E | SKCM | 3 |
p.G554E | SKCM | 2 |
p.Q1263* | SKCM | 2 |
p.G49E | SKCM | 2 |
p.P390S | SKCM | 2 |
p.S1403P | COAD | 2 |
p.P800L | SKCM | 2 |
p.G433E | SKCM | 2 |
p.P635S | SKCM | 2 |
p.G379E | SKCM | 2 |
p.K1679R | COAD | 1 |
p.P1382S | SKCM | 1 |
p.G1612E | SKCM | 1 |
p.G996E | SKCM | 1 |
p.G1248E | SKCM | 1 |
p.G918R | UCEC | 1 |
p.G170E | SKCM | 1 |
p.P650T | HNSC | 1 |
p.G870V | LIHC | 1 |
p.G1273E | SKCM | 1 |
p.G40V | LUAD | 1 |
p.G930D | UCEC | 1 |
p.G1389E | LUAD | 1 |
p.G1157R | SKCM | 1 |
p.G1187R | SKCM | 1 |
p.D371G | HNSC | 1 |
p.E1052A | COAD | 1 |
p.L30R | LIHC | 1 |
p.G1075D | SKCM | 1 |
p.P1031T | LUSC | 1 |
p.S776L | BRCA | 1 |
p.D371Y | OV | 1 |
p.R64L | CESC | 1 |
p.R1006K | SKCM | 1 |
p.R877W | ESCA | 1 |
p.G768V | UCEC | 1 |
p.G107V | BLCA | 1 |
p.D1196Y | STAD | 1 |
p.E640K | GBM | 1 |
p.G1304D | SKCM | 1 |
p.G596E | SKCM | 1 |
p.G1264E | SKCM | 1 |
p.M1387T | LUSC | 1 |
p.G1508S | SKCM | 1 |
p.R377S | COAD | 1 |
p.E735K | SKCM | 1 |
p.P1234S | SKCM | 1 |
p.W2* | LGG | 1 |
p.P1215S | SKCM | 1 |
p.P1379Q | BLCA | 1 |
p.G748S | BRCA | 1 |
p.R50I | LUAD | 1 |
p.P1026S | SKCM | 1 |
p.E1211D | ESCA | 1 |
p.P1025R | OV | 1 |
p.G927E | STAD | 1 |
p.G695C | OV | 1 |
p.I1559M | PAAD | 1 |
p.F177S | UCEC | 1 |
p.E380X | PAAD | 1 |
p.P1385L | SKCM | 1 |
p.R1377Q | SKCM | 1 |
p.G660C | LUSC | 1 |
p.P929S | STAD | 1 |
p.G783* | UCEC | 1 |
p.T973I | GBM | 1 |
p.R1627T | CESC | 1 |
p.K290N | UCEC | 1 |
p.G173E | SKCM | 1 |
p.R227C | PRAD | 1 |
p.E1290K | BLCA | 1 |
p.G593E | LUAD | 1 |
p.G80E | SKCM | 1 |
p.G1072* | OV | 1 |
p.G599R | SKCM | 1 |
p.R724C | UCEC | 1 |
p.G164S | SKCM | 1 |
p.G954E | SKCM | 1 |
p.R588W | UCEC | 1 |
p.N1526S | LUAD | 1 |
p.G822C | STAD | 1 |
p.G22D | LIHC | 1 |
p.G636D | SKCM | 1 |
p.L874F | SKCM | 1 |
p.P1369T | COAD | 1 |
p.P389S | SKCM | 1 |
p.E794K | LUAD | 1 |
p.P1117H | UCEC | 1 |
p.K543Q | STAD | 1 |
p.R920T | BLCA | 1 |
p.P1165T | SKCM | 1 |
p.P222Q | ESCA | 1 |
p.P1255S | BRCA | 1 |
p.S144* | ESCA | 1 |
p.R1377Q | KIRC | 1 |
p.G894E | SKCM | 1 |
p.P46S | SKCM | 1 |
p.G754D | PRAD | 1 |
p.P1521L | SKCM | 1 |
p.E716K | SKCM | 1 |
p.P977L | STAD | 1 |
p.R480K | LGG | 1 |
p.G633E | GBM | 1 |
p.R1388T | HNSC | 1 |
p.P504L | COAD | 1 |
p.P851S | SKCM | 1 |
p.P839S | SKCM | 1 |
p.K325N | HNSC | 1 |
p.P1315S | SKCM | 1 |
p.L1623M | LUAD | 1 |
p.G282E | BLCA | 1 |
p.K366* | BLCA | 1 |
p.G454V | COAD | 1 |
p.P1059A | SKCM | 1 |
p.G639E | SKCM | 1 |
p.G411E | SKCM | 1 |
p.G317E | SKCM | 1 |
p.P82S | HNSC | 1 |
p.R724S | UCEC | 1 |
p.G1415S | SKCM | 1 |
p.M9I | SKCM | 1 |
p.G155E | SKCM | 1 |
p.R1226C | UCS | 1 |
p.G249C | LUAD | 1 |
p.G633E | SKCM | 1 |
p.G864W | LUAD | 1 |
p.P1260S | STAD | 1 |
p.S749* | BLCA | 1 |
p.G83E | SKCM | 1 |
p.R908W | STAD | 1 |
p.V474F | UCEC | 1 |
p.G1442V | LUSC | 1 |
p.G602E | SKCM | 1 |
p.G1395R | SKCM | 1 |
p.P1402L | SKCM | 1 |
p.D1609N | SKCM | 1 |
p.R1038K | SKCM | 1 |
p.Q1111X | SKCM | 1 |
p.R1627K | BLCA | 1 |
p.P1044S | SKCM | 1 |
p.G1328E | SKCM | 1 |
p.P151S | UCEC | 1 |
p.G996R | SKCM | 1 |
p.P1306L | LIHC | 1 |
p.G500V | STAD | 1 |
p.P914L | SKCM | 1 |
p.E919K | SKCM | 1 |
p.R349* | SKCM | 1 |
p.G593R | SKCM | 1 |
p.D603N | SKCM | 1 |
p.P1231S | SKCM | 1 |
p.G616E | SKCM | 1 |
p.P1299S | SKCM | 1 |
p.L1470F | SKCM | 1 |
p.M499V | LUAD | 1 |
p.L898I | UCEC | 1 |
p.G1395E | SKCM | 1 |
p.G518R | SKCM | 1 |
p.P1159S | SKCM | 1 |
p.G613R | SKCM | 1 |
p.G1198R | SKCM | 1 |
p.P416S | SKCM | 1 |
p.H165Y | BRCA | 1 |
p.G152E | SKCM | 1 |
p.G1612R | SKCM | 1 |
p.P620S | SKCM | 1 |
p.G542E | SKCM | 1 |
p.G1483C | PAAD | 1 |
p.L415V | HNSC | 1 |
p.R1431C | UCEC | 1 |
p.G680S | SARC | 1 |
p.P1232S | SKCM | 1 |
p.P770L | GBM | 1 |
p.A696D | HNSC | 1 |
p.P693S | SKCM | 1 |
p.G249V | LUAD | 1 |
p.G1409R | SKCM | 1 |
p.R675M | UCEC | 1 |
p.P100S | LUSC | 1 |
p.P718L | SKCM | 1 |
p.H1579R | SARC | 1 |
p.R97H | COAD | 1 |
p.G1457R | THCA | 1 |
p.R588W | SKCM | 1 |
p.G855R | SKCM | 1 |
p.G515R | SKCM | 1 |
p.P1234S | PRAD | 1 |
p.P1339S | SARC | 1 |
p.V236M | ESCA | 1 |
p.G677D | THYM | 1 |
p.P779Q | LIHC | 1 |
p.R349X | SKCM | 1 |
p.G509E | UCEC | 1 |
p.S1584F | SKCM | 1 |
p.S749L | BLCA | 1 |
p.G590E | SKCM | 1 |
p.P944T | KIRC | 1 |
p.G74A | ESCA | 1 |
p.E937K | SKCM | 1 |
p.G48A | LUAD | 1 |
p.D729Y | HNSC | 1 |
p.G853E | SKCM | 1 |
p.P621S | LIHC | 1 |
p.D516E | STAD | 1 |
p.I295T | SKCM | 1 |
p.G270E | SKCM | 1 |
p.P1376R | BRCA | 1 |
p.D383N | COAD | 1 |
p.G1248R | SKCM | 1 |
p.N464S | SARC | 1 |
p.P1047S | SKCM | 1 |
p.Q34H | LUSC | 1 |
p.Q1263* | BLCA | 1 |
p.G771* | LUAD | 1 |
p.D1373N | SKCM | 1 |
p.K42T | READ | 1 |
p.G1465S | SKCM | 1 |
p.P1309S | SKCM | 1 |
p.R1560H | ESCA | 1 |
p.P1281T | LUSC | 1 |
p.E964K | SKCM | 1 |
p.K269N | LUAD | 1 |
p.P650S | SKCM | 1 |
p.L1182F | SKCM | 1 |
p.G584V | LUAD | 1 |
p.P1174L | OV | 1 |
p.G294D | SKCM | 1 |
p.P1243L | SKCM | 1 |
p.A1078T | HNSC | 1 |
p.T1474M | STAD | 1 |
p.S1034P | SKCM | 1 |
p.G98S | STAD | 1 |
p.G954* | STAD | 1 |
p.G1310R | LUSC | 1 |
p.P788L | LGG | 1 |
p.P389L | SKCM | 1 |
p.R920I | COAD | 1 |
p.P762T | HNSC | 1 |
p.G1121R | SKCM | 1 |
p.P520L | SKCM | 1 |
p.H1013Y | COAD | 1 |
p.R724C | SKCM | 1 |
p.A1384V | STAD | 1 |
p.G557A | SKCM | 1 |
p.G83V | LUAD | 1 |
p.P1170T | SKCM | 1 |
p.R1416K | SKCM | 1 |
p.G1160E | SKCM | 1 |
p.G1027E | LUAD | 1 |
p.P245_splice | LUSC | 1 |
p.G792R | HNSC | 1 |
p.G1178D | SKCM | 1 |
p.R811K | SKCM | 1 |
p.R1560H | UCEC | 1 |
p.R653K | SKCM | 1 |
p.G867R | LUAD | 1 |
p.G74D | SARC | 1 |
p.K169R | THCA | 1 |
p.G1304A | UCEC | 1 |
p.D597H | HNSC | 1 |
p.G98S | UCEC | 1 |
p.G554W | SKCM | 1 |
p.G834R | SKCM | 1 |
p.G677D | UCEC | 1 |
p.P697H | LUAD | 1 |
p.G957* | UCEC | 1 |
p.M1394I | LUAD | 1 |
p.P508S | SKCM | 1 |
p.P1302L | SKCM | 1 |
p.R877Q | PAAD | 1 |
p.G481C | ESCA | 1 |
p.P1379S | SKCM | 1 |
p.G569E | SKCM | 1 |
p.P1589L | UCEC | 1 |
p.G654D | SKCM | 1 |
p.V1422I | LGG | 1 |
p.G1355V | STAD | 1 |
p.G921R | SKCM | 1 |
p.P839L | GBM | 1 |
p.G954X | STAD | 1 |
p.G1075S | SKCM | 1 |
p.G1233E | BLCA | 1 |
p.Q1111* | SKCM | 1 |
p.G478R | SKCM | 1 |
p.P839L | LIHC | 1 |
p.D1293N | CESC | 1 |
p.G993E | SKCM | 1 |
p.P1243S | SKCM | 1 |
p.G170R | SKCM | 1 |
p.S738F | SKCM | 1 |
p.G1230S | SKCM | 1 |
p.Q241* | HNSC | 1 |
p.G143S | SKCM | 1 |
p.G173R | SKCM | 1 |
p.G584E | SKCM | 1 |
p.P730S | UCEC | 1 |
p.G1127E | UCEC | 1 |
p.G1433C | UCEC | 1 |
p.M403I | UCEC | 1 |
p.G888E | SKCM | 1 |
p.G689R | SKCM | 1 |
p.G518E | SKCM | 1 |
p.S144X | ESCA | 1 |
p.D991N | SKCM | 1 |
p.G645R | GBM | 1 |
p.P1123L | SKCM | 1 |
p.I1585T | KIRP | 1 |
p.R877Q | DLBC | 1 |
p.P720S | SKCM | 1 |
p.R1353K | SKCM | 1 |
p.R50G | SKCM | 1 |
p.G645E | SKCM | 1 |
p.S1125F | SKCM | 1 |
p.G1039R | SKCM | 1 |
p.G864E | STAD | 1 |
p.R1677C | GBM | 1 |
p.D1158N | SKCM | 1 |
p.G270R | SKCM | 1 |
p.G1319E | SKCM | 1 |
p.S1681R | UCEC | 1 |
p.P482S | COAD | 1 |
p.D1625H | BLCA | 1 |
p.K42T | PAAD | 1 |
p.E1391K | SKCM | 1 |
p.E380* | PAAD | 1 |
p.G276E | BLCA | 1 |
p.G509W | SKCM | 1 |
p.G633R | SKCM | 1 |
p.P136L | SKCM | 1 |
p.A624T | SKCM | 1 |
p.D1158Y | LIHC | 1 |
p.G341V | PAAD | 1 |
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TissGeneCNV for COL4A4 |
Copy number variations of TissGene across 28 cancer types (X-axis: cancer type and Y-axis: % of CNV samples) (TCGA Gistic2_CopyNumber_Gistic2_all_data_by_genes, Gistic2 copy number data, version 2016-08-16) |
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TissGeneFusions for COL4A4 |
Fusion genes including TissGene (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 |
Chimerdb3.0 | ChiTaRs | NA | BF376481 | COL4A4-VPS26B | chr2:227972900 | chr11:134116898 |
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TissGeneNet for COL4A4 |
Co-expressed gene networks based on protein-protein interaction data (CePIN) (TCGA IlluminaHiSeq_RNASeqV2, pan-cancer normalized log2(norm_counts+1) data, version 2016-08-16) (PINA2 ppi data) |
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TissGeneProg for COL4A4 |
Kaplan-Meier plots with logrank tests of overall survival (OS) using 28 cancer types (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. |
Kaplan-Meier plots with logrank test of relapse free survival (RFS) using 28 cancer types (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. |
Forest plot of Cox proportional hazard ratio (HR) and 95% CI of overall survival (OS) using 28 cancer types (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. |
Forest plot of Cox proportional hazard ratio (HR) and 95% CI of relapse free survival (RFS) using 28 cancer types (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 COL4A4 |
TissGeneDrug for COL4A4 |
Drug information targeting TissGene (DrugBank Version 5.0.6, 2017-04-01) |
DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
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TissGeneDisease for COL4A4 |
Disease information associated with TissGene (DisGeNet, 2016-06-01) |
Disease ID | Disease name | # pubmeds | Source |
umls:C1567741 | Alport Syndrome | 31 | BeFree |
umls:C0403440 | Thin basement membrane disease | 21 | BeFree |
umls:C0241908 | Hematuria, Benign Familial | 14 | BeFree,CLINVAR,UNIPROT |
umls:C1567744 | Alport Syndrome, Autosomal Recessive | 13 | BeFree,CLINVAR,MGD,ORPHANET,UNIPROT |
umls:C0022658 | Kidney Diseases | 7 | BeFree,GAD |
umls:C0027706 | Hereditary nephritis | 7 | BeFree,LHGDN |
umls:C1305904 | Familial hematuria | 6 | BeFree |
umls:C0017668 | Focal glomerulosclerosis | 5 | BeFree |
umls:C0022578 | Keratoconus | 5 | BeFree,GAD |
umls:C0035078 | Kidney Failure | 5 | BeFree |
umls:C1567742 | Alport Syndrome, X-Linked | 5 | BeFree |
umls:C0022661 | Kidney Failure, Chronic | 4 | BeFree,LHGDN |
umls:C0238157 | Benign hematuria | 3 | BeFree |
umls:C0333497 | Segmental glomerulosclerosis | 2 | BeFree |
umls:C1561643 | Chronic Kidney Diseases | 2 | BeFree |
umls:C1565489 | Renal Insufficiency | 2 | BeFree |
umls:C0008495 | Chorioamnionitis | 1 | GAD |
umls:C0015944 | Fetal Membranes, Premature Rupture | 1 | GAD |
umls:C0017665 | Membranous glomerulonephritis | 1 | GAD |
umls:C0018784 | Sensorineural Hearing Loss (disorder) | 1 | BeFree |
umls:C0018965 | Hematuria | 1 | LHGDN |
umls:C0022876 | Premature Obstetric Labor | 1 | GAD |
umls:C0032914 | Pre-Eclampsia | 1 | GAD |
umls:C0040336 | Tobacco Use Disorder | 1 | GAD |
umls:C0151526 | Premature Birth | 1 | GAD |
umls:C0154856 | Retinal lattice degeneration | 1 | BeFree |
umls:C0268731 | Renal glomerular disease | 1 | BeFree |
umls:C0403447 | Chronic Kidney Insufficiency | 1 | BeFree |
umls:C1384666 | hearing impairment | 1 | LHGDN |
umls:C1567743 | Alport Syndrome, Autosomal Dominant | 1 | BeFree,ORPHANET |
umls:C2316810 | Chronic kidney disease stage 5 | 1 | BeFree |
umls:C2919032 | Infection of amniotic sac and membranes, unspecified, unspecified trimester, not applicable or unspecified | 1 | GAD |
umls:C2931253 | Alport syndrome, dominant type | 0 | ORPHANET |
umls:C2931254 | Alport syndrome, recessive type | 0 | CTD_human |