TissGeneSummary for COL4A6 |
Gene summary |
Basic gene information | Gene symbol | COL4A6 |
Gene name | collagen, type IV, alpha 6 | |
Synonyms | CXDELq22.3|DELXq22.3|DFNX6 | |
Cytomap | UCSC genome browser: Xq22 | |
Type of gene | protein-coding | |
RefGenes | NM_001287758.1, NM_001287759.1,NM_001287760.1,NM_001847.3,NM_033641.3, | |
Description | collagen IV, alpha-6 polypeptidecollagen alpha-6(IV) chaincollagen of basement membrane, alpha-6dJ889N15.4 (Collagen Alpha 6(IV)) | |
Modification date | 20141207 | |
dbXrefs | MIM : 303631 | |
HGNC : HGNC | ||
Ensembl : ENSG00000197565 | ||
HPRD : 02364 | ||
Vega : OTTHUMG00000022179 | ||
Protein | UniProt: go to UniProt's Cross Reference DB Table | |
Expression | CleanEX: HS_COL4A6 | |
BioGPS: 1288 | ||
Pathway | NCI Pathway Interaction Database: COL4A6 | |
KEGG: COL4A6 | ||
REACTOME: COL4A6 | ||
Pathway Commons: COL4A6 | ||
Context | iHOP: COL4A6 | |
ligand binding site mutation search in PubMed: COL4A6 | ||
UCL Cancer Institute: COL4A6 | ||
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) | CervixEsophagus | |
Cancer types related to the specific-tissues in cancer samples (assigned by TissGDB using TCGA) | CESCESCA | |
Reference showing the relevant tissue of COL4A6 | ||
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 COL4A6 |
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 |
LUAD | -2.362221805 | -0.189337323 | -2.172884483 | 1.46E-10 | 8.55E-10 |
HNSC | 3.035040344 | 0.33130546 | 2.703734884 | 7.05E-08 | 7.21E-07 |
COAD | -2.544293556 | 0.138156444 | -2.68245 | 3.61E-11 | 5.86E-10 |
BRCA | -0.38128944 | 2.029295648 | -2.410585088 | 8.65E-17 | 5.01E-16 |
THCA | -2.64273104 | -0.457371718 | -2.185359322 | 3.65E-14 | 4.00E-13 |
KIRC | -3.482469411 | 2.596530589 | -6.079 | 3.04E-52 | 3.41E-50 |
KICH | -3.881698633 | 2.557733367 | -6.439432 | 1.29E-14 | 2.33E-13 |
KIRP | -2.095744758 | 2.620236492 | -4.71598125 | 7.08E-14 | 1.44E-12 |
STAD | -0.304510383 | 2.978511492 | -3.283021875 | 4.07E-08 | 1.36E-06 |
PRAD | 1.884314136 | 3.832206444 | -1.947892308 | 2.74E-12 | 1.23E-10 |
LUSC | 2.179413759 | 0.054347093 | 2.125066667 | 4.31E-06 | 1.02E-05 |
BLCA | 2.123807051 | 5.075901788 | -2.952094737 | 0.000243 | 0.002280304 |
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TissGene-miRNA for COL4A6 |
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 COL4A6 |
TissGeneSNV for COL4A6 |
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.G989E | SKCM | 2 |
p.R936L | LUAD | 2 |
p.G990E | SKCM | 2 |
p.G972C | UCEC | 2 |
p.R417C | UCEC | 2 |
p.L550H | GBM | 1 |
p.W5* | SKCM | 1 |
p.G667E | SKCM | 1 |
p.D752Y | LUAD | 1 |
p.K156R | COAD | 1 |
p.G1443* | OV | 1 |
p.P1001H | LGG | 1 |
p.M1I | COAD | 1 |
p.P1344S | SKCM | 1 |
p.K260N | ACC | 1 |
p.G1297R | SKCM | 1 |
p.G1261W | COAD | 1 |
p.G234A | LUAD | 1 |
p.A239P | KIRP | 1 |
p.G969* | UCEC | 1 |
p.D1344N | SKCM | 1 |
p.34_35QD>HY | LUAD | 1 |
p.P1155S | LUAD | 1 |
p.L646F | SKCM | 1 |
p.G62D | UCEC | 1 |
p.E335* | UCEC | 1 |
p.P279T | LUSC | 1 |
p.V1556A | UCEC | 1 |
p.G887V | ACC | 1 |
p.N949D | CESC | 1 |
p.E574K | SKCM | 1 |
p.V874L | LUAD | 1 |
p.R1518H | LGG | 1 |
p.P1312S | CESC | 1 |
p.R1679Q | ESCA | 1 |
p.G929R | SKCM | 1 |
p.Q153K | LUSC | 1 |
p.L867V | SKCM | 1 |
p.S740N | STAD | 1 |
p.E1088K | LUAD | 1 |
p.P296T | THYM | 1 |
p.N948H | SKCM | 1 |
p.P1551T | READ | 1 |
p.D429N | SKCM | 1 |
p.P1667S | UCEC | 1 |
p.R49I | UCEC | 1 |
p.E1089K | SKCM | 1 |
p.G46R | HNSC | 1 |
p.P1517T | LUAD | 1 |
p.G1097E | SKCM | 1 |
p.G236A | LUAD | 1 |
p.D34Y | LUAD | 1 |
p.P1065S | SKCM | 1 |
p.K467N | KIRP | 1 |
p.R559W | SKCM | 1 |
p.G1033V | LUAD | 1 |
p.Q203R | HNSC | 1 |
p.E546K | SKCM | 1 |
p.D1387N | LGG | 1 |
p.R560W | SKCM | 1 |
p.P612S | SKCM | 1 |
p.R1680Q | ESCA | 1 |
p.I1102K | LUAD | 1 |
p.R1595L | BRCA | 1 |
p.G1292R | BRCA | 1 |
p.G789R | KIRC | 1 |
p.Q645* | UCEC | 1 |
p.R1269Q | BLCA | 1 |
p.E573K | SKCM | 1 |
p.P598T | LUAD | 1 |
p.P1064S | SKCM | 1 |
p.R1098K | CESC | 1 |
p.K1541I | SKCM | 1 |
p.G771R | LUAD | 1 |
p.P741L | SKCM | 1 |
p.N963Y | SKCM | 1 |
p.G1265S | LUSC | 1 |
p.G990* | SKCM | 1 |
p.G58S | SKCM | 1 |
p.I753S | LIHC | 1 |
p.L710X | LIHC | 1 |
p.G649R | SKCM | 1 |
p.L709* | LIHC | 1 |
p.S1146F | UCEC | 1 |
p.G128V | UCEC | 1 |
p.S1062P | UCEC | 1 |
p.P548Q | OV | 1 |
p.G926V | LUAD | 1 |
p.E1045K | SKCM | 1 |
p.S1284C | ESCA | 1 |
p.G694E | SKCM | 1 |
p.S1285L | COAD | 1 |
p.G1133A | HNSC | 1 |
p.Q153R | LUSC | 1 |
p.P949L | SKCM | 1 |
p.G774E | UCEC | 1 |
p.G1219E | SKCM | 1 |
p.P1044T | ESCA | 1 |
p.P995H | OV | 1 |
p.G666E | SARC | 1 |
p.R681* | STAD | 1 |
p.G525C | LUAD | 1 |
p.R800W | UCEC | 1 |
p.R1629Q | SKCM | 1 |
p.D1343N | SKCM | 1 |
p.L9Q | LIHC | 1 |
p.G1621S | SKCM | 1 |
p.Q204_splice | LUSC | 1 |
p.R518* | UCEC | 1 |
p.G1217R | UCEC | 1 |
p.D578N | SKCM | 1 |
p.G31R | LUAD | 1 |
p.L1617M | LUAD | 1 |
p.A1135S | STAD | 1 |
p.F80S | SKCM | 1 |
p.W16C | HNSC | 1 |
p.Y1526N | LUAD | 1 |
p.G439V | PAAD | 1 |
p.G619E | SKCM | 1 |
p.G1026C | COAD | 1 |
p.G1175V | ESCA | 1 |
p.G142V | ACC | 1 |
p.P597T | LUAD | 1 |
p.G1032V | LUAD | 1 |
p.C1481Y | BLCA | 1 |
p.P1212S | SKCM | 1 |
p.G88E | SKCM | 1 |
p.G88R | SKCM | 1 |
p.G458C | BLCA | 1 |
p.G368C | BRCA | 1 |
p.R1230X | COAD | 1 |
p.G1413C | LUSC | 1 |
p.N360S | BRCA | 1 |
p.P415Q | LUAD | 1 |
p.V1555I | PRAD | 1 |
p.A1276T | STAD | 1 |
p.R50X | COAD | 1 |
p.A1003D | UCEC | 1 |
p.G520E | COAD | 1 |
p.L550I | CESC | 1 |
p.H772N | LUAD | 1 |
p.G1156E | SKCM | 1 |
p.K409X | THYM | 1 |
p.E1076K | SKCM | 1 |
p.G989X | SKCM | 1 |
p.G789R | LUAD | 1 |
p.G1054R | SKCM | 1 |
p.G930V | BRCA | 1 |
p.E448K | SKCM | 1 |
p.K860E | UCEC | 1 |
p.G515E | SKCM | 1 |
p.D1260E | UCS | 1 |
p.A1003S | SARC | 1 |
p.M1486I | SKCM | 1 |
p.S1358C | STAD | 1 |
p.D124Y | LUAD | 1 |
p.F1131Y | UCEC | 1 |
p.P1278Q | LUAD | 1 |
p.G329E | SKCM | 1 |
p.G744A | SARC | 1 |
p.G888V | ACC | 1 |
p.E609K | SKCM | 1 |
p.C1590F | LUSC | 1 |
p.G412E | SKCM | 1 |
p.D484N | SKCM | 1 |
p.R960H | UCEC | 1 |
p.G924E | SKCM | 1 |
p.P1211S | SKCM | 1 |
p.N360S | GBM | 1 |
p.P206H | UCEC | 1 |
p.G666E | SKCM | 1 |
p.P725L | SKCM | 1 |
p.T847K | THYM | 1 |
p.E1046K | SKCM | 1 |
p.G774* | UCEC | 1 |
p.P414Q | LUAD | 1 |
p.L1618M | LUAD | 1 |
p.P1277T | BLCA | 1 |
p.R1225G | BRCA | 1 |
p.E24D | UCEC | 1 |
p.E608K | SKCM | 1 |
p.G205_splice | LUSC | 1 |
p.G143V | ACC | 1 |
p.G902E | SKCM | 1 |
p.R1272H | UCEC | 1 |
p.G1163R | BLCA | 1 |
p.L965I | UCEC | 1 |
p.P1251S | UCEC | 1 |
p.I752S | LIHC | 1 |
p.G927V | LUAD | 1 |
p.G282V | BLCA | 1 |
p.D1388N | LGG | 1 |
p.D1259E | UCS | 1 |
p.V1580E | LUAD | 1 |
p.G486D | ESCA | 1 |
p.R416C | COAD | 1 |
p.G923E | SKCM | 1 |
p.P726S | UCEC | 1 |
p.E23* | LGG | 1 |
p.G47R | HNSC | 1 |
p.V229A | LIHC | 1 |
p.H450N | SKCM | 1 |
p.P360S | SKCM | 1 |
p.R223T | CESC | 1 |
p.G101D | UCEC | 1 |
p.K1688E | COAD | 1 |
p.M1350I | UCEC | 1 |
p.R1231* | LUAD | 1 |
p.P1143L | SKCM | 1 |
p.L83I | LUAD | 1 |
p.G876* | LGG | 1 |
p.G1400S | COAD | 1 |
p.G27E | SKCM | 1 |
p.G1318A | COAD | 1 |
p.P138L | KIRC | 1 |
p.P632L | SKCM | 1 |
p.R560W | KIRC | 1 |
p.G305D | SKCM | 1 |
p.Q33H | LUAD | 1 |
p.P1345S | SKCM | 1 |
p.P699S | PAAD | 1 |
p.G1115E | SKCM | 1 |
p.P1159L | STAD | 1 |
p.K1541N | UCEC | 1 |
p.P713S | SKCM | 1 |
p.E219* | OV | 1 |
p.R937L | LUAD | 1 |
p.S1080N | KIRC | 1 |
p.P1040R | THCA | 1 |
p.P1390H | PRAD | 1 |
p.G524C | LUAD | 1 |
p.S1420I | LUAD | 1 |
p.K261N | ACC | 1 |
p.D485E | KIRC | 1 |
p.G1174V | ESCA | 1 |
p.P488S | COAD | 1 |
p.S928L | PAAD | 1 |
p.G576C | SKCM | 1 |
p.H771N | LUAD | 1 |
p.G770R | LUAD | 1 |
p.G119C | STAD | 1 |
p.G302D | SKCM | 1 |
p.L10Q | LIHC | 1 |
p.P344S | LGG | 1 |
p.G1041V | SARC | 1 |
p.A1573V | STAD | 1 |
p.R994Q | SKCM | 1 |
p.S1285C | ESCA | 1 |
p.G1157E | SKCM | 1 |
p.D970G | LIHC | 1 |
p.G516E | SKCM | 1 |
p.H109Q | TGCT | 1 |
p.G1132A | HNSC | 1 |
p.P1318L | SKCM | 1 |
p.H840Y | CESC | 1 |
p.P1318T | SKCM | 1 |
p.G76R | COAD | 1 |
p.E1075K | SKCM | 1 |
p.E547K | SKCM | 1 |
p.A355D | BRCA | 1 |
p.D122Y | LUAD | 1 |
p.G1392D | STAD | 1 |
p.G696R | PRAD | 1 |
p.S1359C | STAD | 1 |
p.V99D | OV | 1 |
p.P633L | HNSC | 1 |
p.G1225E | SKCM | 1 |
p.G990R | SKCM | 1 |
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TissGeneCNV for COL4A6 |
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 COL4A6 |
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 | BE835987 | COL4A6-ZNF589 | chrX:107654161 | chr3:48309898 | |
Chimerdb3.0 | ChiTaRs | NA | CR747029 | GBX1-COL4A6 | chr7:150846148 | chrX:107666031 |
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TissGeneNet for COL4A6 |
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 COL4A6 |
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 COL4A6 |
TissGeneDrug for COL4A6 |
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 COL4A6 |
Disease information associated with TissGene (DisGeNet, 2016-06-01) |
Disease ID | Disease name | # pubmeds | Source |
umls:C1567741 | Alport Syndrome | 15 | BeFree |
umls:C0206654 | Leiomyomatosis | 10 | BeFree |
umls:C1567742 | Alport Syndrome, X-Linked | 7 | BeFree |
umls:C0022658 | Kidney Diseases | 3 | BeFree |
umls:C0001418 | Adenocarcinoma | 2 | BeFree,LHGDN |
umls:C0035078 | Kidney Failure | 2 | BeFree |
umls:C0000768 | Congenital Abnormality | 1 | BeFree |
umls:C0000786 | Spontaneous abortion | 1 | CTD_human |
umls:C0001430 | Adenoma | 1 | BeFree |
umls:C0007102 | Malignant tumor of colon | 1 | BeFree |
umls:C0007137 | Squamous cell carcinoma | 1 | LHGDN |
umls:C0008495 | Chorioamnionitis | 1 | GAD |
umls:C0009404 | Colorectal Neoplasms | 1 | BeFree,LHGDN |
umls:C0015944 | Fetal Membranes, Premature Rupture | 1 | GAD |
umls:C0022876 | Premature Obstetric Labor | 1 | GAD |
umls:C0023267 | Fibroid Tumor | 1 | BeFree |
umls:C0027627 | Neoplasm Metastasis | 1 | LHGDN |
umls:C0032914 | Pre-Eclampsia | 1 | GAD |
umls:C0042133 | Uterine Fibroids | 1 | BeFree |
umls:C0086533 | Leiomyoma, Epithelioid | 1 | CTD_human |
umls:C0086543 | Cataract | 1 | BeFree |
umls:C0151526 | Premature Birth | 1 | GAD |
umls:C0206658 | Smooth Muscle Tumor | 1 | BeFree |
umls:C0238114 | Leiomyoma of esophagus | 1 | BeFree |
umls:C0699790 | Colon Carcinoma | 1 | BeFree |
umls:C1839884 | Leiomyomatosis, esophageal and vulval, with nephropathy | 1 | BeFree,CTD_human |
umls:C2919032 | Infection of amniotic sac and membranes, unspecified, unspecified trimester, not applicable or unspecified | 1 | GAD |
umls:C3711374 | Nonsyndromic Deafness | 1 | BeFree |
umls:C3806737 | DEAFNESS, X-LINKED 6 | 1 | CLINVAR,UNIPROT |