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| TissGeneSummary for COL9A1 |
 Gene summary |
| Basic gene information | Gene symbol | COL9A1 |
| Gene name | collagen, type IX, alpha 1 | |
| Synonyms | DJ149L1.1.2|EDM6|MED|STL4 | |
| Cytomap | UCSC genome browser: 6q13 | |
| Type of gene | protein-coding | |
| RefGenes | NM_001851.4, NM_078485.3, | |
| Description | alpha-1(IX) collagen chaincartilage-specific short collagencollagen IX, alpha-1 polypeptidecollagen alpha-1(IX) chain | |
| Modification date | 20141219 | |
| dbXrefs | MIM : 120210 | |
| HGNC : HGNC | ||
| Ensembl : ENSG00000112280 | ||
| HPRD : 00367 | ||
| Vega : OTTHUMG00000014988 | ||
| Protein | UniProt: go to UniProt's Cross Reference DB Table | |
| Expression | CleanEX: HS_COL9A1 | |
| BioGPS: 1297 | ||
| Pathway | NCI Pathway Interaction Database: COL9A1 | |
| KEGG: COL9A1 | ||
| REACTOME: COL9A1 | ||
| Pathway Commons: COL9A1 | ||
| Context | iHOP: COL9A1 | |
| ligand binding site mutation search in PubMed: COL9A1 | ||
| UCL Cancer Institute: COL9A1 | ||
| Assigned class in TissGDB* | B | |
| Included tissue-specific gene expression resources | HPA,TiGER,GTEx | |
| Specific-tissues in normal samples (assigned by TissGDB using HPA, TiGER, and GTEx) | OvaryProstate | |
| Cancer types related to the specific-tissues in cancer samples (assigned by TissGDB using TCGA) | OVPRAD | |
| Reference showing the relevant tissue of COL9A1 | ||
| 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 |
| Top |
| TissGeneExp for COL9A1 |
| 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) |
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| 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) |
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| 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. |
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| 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 |
| LIHC | -1.338284069 | -3.346856069 | 2.008572 | 2.04E-13 | 4.87E-12 |
| KIRP | -2.755597819 | -1.370085319 | -1.3855125 | 1.01E-05 | 4.22E-05 |
| STAD | 1.047967806 | -0.399563444 | 1.44753125 | 0.00471 | 0.018365536 |
| PRAD | 0.748665161 | 2.336117084 | -1.587451923 | 0.000516 | 0.001803988 |
| Top |
| TissGene-miRNA for COL9A1 |
| 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 |
| UCS | hsa-let-7i-5p | MIMAT0000415 | 0.044 | -0.27 | 56 |
| Top |
| TissGeneMut for COL9A1 |
| TissGeneSNV for COL9A1 |
| 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. |
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| 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) |
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| - nsSNVs sorted by frequency. |
| AAchange | Cancer type | # samples |
| p.S170L | SKCM | 4 |
| p.G526E | SKCM | 3 |
| p.P624S | SKCM | 2 |
| p.R118Q | UCEC | 2 |
| p.P244H | LIHC | 2 |
| p.E491K | SKCM | 2 |
| p.P498S | SKCM | 2 |
| p.S351L | SKCM | 2 |
| p.P886S | SKCM | 2 |
| p.P531S | SKCM | 2 |
| p.R877Q | SKCM | 2 |
| p.G535E | SKCM | 2 |
| p.V85E | LUAD | 1 |
| p.Q84L | LUAD | 1 |
| p.P854H | LIHC | 1 |
| p.G457A | LUSC | 1 |
| p.P699H | ESCA | 1 |
| p.V187M | UCEC | 1 |
| p.R118Q | COAD | 1 |
| p.M600I | SKCM | 1 |
| p.E250* | UCEC | 1 |
| p.G598C | LUAD | 1 |
| p.T328I | LGG | 1 |
| p.S156L | SKCM | 1 |
| p.P579H | UCEC | 1 |
| p.G861C | LUAD | 1 |
| p.G529S | THCA | 1 |
| p.R28H | BLCA | 1 |
| p.G890R | LUSC | 1 |
| p.E109K | LUAD | 1 |
| p.R118* | UCS | 1 |
| p.V187L | LUSC | 1 |
| p.L194V | CESC | 1 |
| p.P412S | SKCM | 1 |
| p.G718E | SKCM | 1 |
| p.R352C | OV | 1 |
| p.P29H | OV | 1 |
| p.A69T | STAD | 1 |
| p.Q51* | UCEC | 1 |
| p.R843H | HNSC | 1 |
| p.R295Q | STAD | 1 |
| p.D665E | ESCA | 1 |
| p.R877Q | BLCA | 1 |
| p.R118X | UCS | 1 |
| p.R545C | CHOL | 1 |
| p.G613R | SKCM | 1 |
| p.P389T | LUAD | 1 |
| p.P280L | ESCA | 1 |
| p.P313T | CHOL | 1 |
| p.P895H | KIRP | 1 |
| p.P276S | SKCM | 1 |
| p.R720W | SKCM | 1 |
| p.E482K | ESCA | 1 |
| p.G281A | STAD | 1 |
| p.A69V | UCEC | 1 |
| p.V77A | STAD | 1 |
| p.A22V | UCEC | 1 |
| p.G311E | SKCM | 1 |
| p.G565A | LUSC | 1 |
| p.P552S | SKCM | 1 |
| p.G278W | LUAD | 1 |
| p.G814E | SKCM | 1 |
| p.P423Q | THYM | 1 |
| p.R816G | LUSC | 1 |
| p.R118L | ESCA | 1 |
| p.P313T | PRAD | 1 |
| p.E710* | LUAD | 1 |
| p.Q228E | BLCA | 1 |
| p.D862A | LUAD | 1 |
| p.H253N | LUAD | 1 |
| p.R71K | LIHC | 1 |
| p.G481E | KIRP | 1 |
| p.G460E | SKCM | 1 |
| p.P297S | SKCM | 1 |
| p.G457V | LUAD | 1 |
| p.L897H | HNSC | 1 |
| p.P330S | COAD | 1 |
| p.P465S | SKCM | 1 |
| p.S336F | LAML | 1 |
| p.S339P | COAD | 1 |
| p.R28H | COAD | 1 |
| p.G858S | LUAD | 1 |
| p.P393S | SKCM | 1 |
| p.L623R | STAD | 1 |
| p.D58Y | READ | 1 |
| p.R419G | CESC | 1 |
| p.G577E | SKCM | 1 |
| p.S80L | SKCM | 1 |
| p.G838E | SKCM | 1 |
| p.S174T | LUAD | 1 |
| p.G457R | LGG | 1 |
| p.E692K | SARC | 1 |
| p.R28C | STAD | 1 |
| p.N91S | HNSC | 1 |
| p.R246Q | COAD | 1 |
| p.Q228P | COAD | 1 |
| p.G472C | LUAD | 1 |
| p.D197E | THYM | 1 |
| p.V154A | LUAD | 1 |
| p.T251I | HNSC | 1 |
| p.P366S | SKCM | 1 |
| p.Q151L | LUSC | 1 |
| p.G571E | SKCM | 1 |
| p.Q771K | LUAD | 1 |
| p.D292E | SKCM | 1 |
| p.G601R | SKCM | 1 |
| p.G541D | UVM | 1 |
| p.A22V | ESCA | 1 |
| p.V378A | LUSC | 1 |
| p.Q764E | COAD | 1 |
| p.G697E | SKCM | 1 |
| p.P528S | SKCM | 1 |
| p.R419G | LUSC | 1 |
| p.G670C | KIRC | 1 |
| p.G162R | SKCM | 1 |
| p.G700D | LUAD | 1 |
| p.P564S | LUAD | 1 |
| p.M428I | ESCA | 1 |
| p.G697* | PRAD | 1 |
| p.G884E | SKCM | 1 |
| p.G730R | SKCM | 1 |
| p.L650F | SKCM | 1 |
| p.E437K | SKCM | 1 |
| p.T537M | LIHC | 1 |
| p.G820S | SKCM | 1 |
| p.Q621R | COAD | 1 |
| p.V13L | BLCA | 1 |
| p.D489N | BLCA | 1 |
| p.G622E | PRAD | 1 |
| p.P310L | KIRP | 1 |
| p.E262* | UCEC | 1 |
| p.R848I | BLCA | 1 |
| p.Y159* | BRCA | 1 |
| p.R377S | LUAD | 1 |
| p.P752S | SKCM | 1 |
| p.K145T | STAD | 1 |
| p.G787V | LUAD | 1 |
| p.D135N | STAD | 1 |
| p.P301L | BLCA | 1 |
| p.D53Y | LUAD | 1 |
| p.G823R | SKCM | 1 |
| p.Q599* | GBM | 1 |
| p.A521D | UCS | 1 |
| p.R377H | BRCA | 1 |
| p.G143S | SKCM | 1 |
| p.G511V | PRAD | 1 |
| p.Q909P | LUAD | 1 |
| p.G583C | LUAD | 1 |
| p.A218V | SKCM | 1 |
| p.K6N | UCEC | 1 |
| p.P211Q | LUAD | 1 |
| p.D566N | SKCM | 1 |
| p.S178F | LUAD | 1 |
| p.G186D | UCEC | 1 |
| p.P728S | SKCM | 1 |
| p.A524T | UCEC | 1 |
| p.V187M | GBM | 1 |
| p.F195Y | LUAD | 1 |
| p.R843H | LUAD | 1 |
| p.E839K | SARC | 1 |
| p.G210D | STAD | 1 |
| p.P227S | SKCM | 1 |
| p.P753L | STAD | 1 |
| p.P29L | ESCA | 1 |
| p.P372H | LUAD | 1 |
| p.P304T | LUSC | 1 |
| p.L17M | UCEC | 1 |
| p.G568R | PAAD | 1 |
| p.G844D | UCEC | 1 |
| p.K126N | UCEC | 1 |
| p.G893* | UCEC | 1 |
| p.E710K | SKCM | 1 |
| p.F233L | LUAD | 1 |
| p.G353R | SKCM | 1 |
| p.P563L | SKCM | 1 |
| p.P846L | SKCM | 1 |
| p.G718R | SKCM | 1 |
| p.G852S | PAAD | 1 |
| p.E42X | READ | 1 |
| p.S635T | HNSC | 1 |
| p.G106R | SKCM | 1 |
| p.S137C | BRCA | 1 |
| p.G472V | LUAD | 1 |
| p.D135G | SKCM | 1 |
| p.S681F | SKCM | 1 |
| p.G427C | UCEC | 1 |
| p.G745V | KIRP | 1 |
| p.Q134* | BLCA | 1 |
| p.G601E | SKCM | 1 |
| p.P723S | SKCM | 1 |
| p.G329E | SKCM | 1 |
| p.E629V | HNSC | 1 |
| p.G887V | UCEC | 1 |
| p.G281C | DLBC | 1 |
| p.D177Y | BLCA | 1 |
| p.P561R | BLCA | 1 |
| p.R246Q | LGG | 1 |
| p.F10I | OV | 1 |
| p.D695N | SKCM | 1 |
| p.G709R | LUAD | 1 |
| p.P801L | BRCA | 1 |
| p.D135N | KIRC | 1 |
| p.P800S | SKCM | 1 |
| p.P636R | LUAD | 1 |
| p.D503N | SKCM | 1 |
| p.G281V | LUAD | 1 |
| p.R419C | SKCM | 1 |
| p.P833L | SKCM | 1 |
| p.G347S | LUSC | 1 |
| p.G715E | SKCM | 1 |
| p.A567V | LGG | 1 |
| p.H405Y | SKCM | 1 |
| p.G793V | LUAD | 1 |
| Top |
| TissGeneCNV for COL9A1 |
| 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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| Top |
| TissGeneFusions for COL9A1 |
| 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 | DV460377 | ZNF638-COL9A1 | chr2:71662186 | chr6:70925993 | |
| Chimerdb3.0 | FusionScan | SARC | TCGA-FX-A2QS-01A | CPSF6-COL9A1 | Out-of-Frame | chr12:69633486 | chr6:70926784 |
| Top |
| TissGeneNet for COL9A1 |
| 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) |
| BRCA (tumor) | BRCA (normal) |
| COL9A1, COL2A1, COMP, MAG, COL9A3 (tumor) | COL9A1, COL2A1, COMP, MAG, COL9A3 (normal) |
 |  |
| COAD (tumor) | COAD (normal) |
| COL9A1, COL2A1, COMP, MAG, COL9A3 (tumor) | COL9A1, COL2A1, COMP, MAG, COL9A3 (normal) |
 |  |
| HNSC (tumor) | HNSC (normal) |
| COL9A1, COL2A1, COMP, MAG, COL9A3 (tumor) | COL9A1, COL2A1, COMP, MAG, COL9A3 (normal) |
 |  |
| KICH (tumor) | KICH (normal) |
| COL9A1, COL2A1, COMP, MAG, COL9A3 (tumor) | COL9A1, COL2A1, COMP, MAG, COL9A3 (normal) |
 |  |
| KIRC (tumor) | KIRC (normal) |
| COL9A1, COL2A1, COMP, MAG, COL9A3 (tumor) | COL9A1, COL2A1, COMP, MAG, COL9A3 (normal) |
 |  |
| KIRP (tumor) | KIRP (normal) |
| COL9A1, COL2A1, COMP, MAG, COL9A3 (tumor) | COL9A1, COL2A1, COMP, MAG, COL9A3 (normal) |
 |  |
| LIHC (tumor) | LIHC (normal) |
| COL9A1, COL2A1, COMP, MAG, COL9A3 (tumor) | COL9A1, COL2A1, COMP, MAG, COL9A3 (normal) |
 |  |
| LUAD (tumor) | LUAD (normal) |
| COL9A1, COL2A1, COMP, MAG, COL9A3 (tumor) | COL9A1, COL2A1, COMP, MAG, COL9A3 (normal) |
 |  |
| LUSC (tumor) | LUSC (normal) |
| COL9A1, COL2A1, COMP, MAG, COL9A3 (tumor) | COL9A1, COL2A1, COMP, MAG, COL9A3 (normal) |
 |  |
| PRAD (tumor) | PRAD (normal) |
| COL9A1, COL2A1, COMP, MAG, COL9A3 (tumor) | COL9A1, COL2A1, COMP, MAG, COL9A3 (normal) |
 |  |
| STAD (tumor) | STAD (normal) |
| COL9A1, COL2A1, COMP, MAG, COL9A3 (tumor) | COL9A1, COL2A1, COMP, MAG, COL9A3 (normal) |
 |  |
| THCA (tumor) | THCA (normal) |
| COL9A1, COL2A1, COMP, MAG, COL9A3 (tumor) | COL9A1, COL2A1, COMP, MAG, COL9A3 (normal) |
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| Top |
| TissGeneProg for COL9A1 |
| 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. |
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| 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. |
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| 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. |
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| 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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| Top |
| TissGeneClin for COL9A1 |
| TissGeneDrug for COL9A1 |
| 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 COL9A1 |
| Disease information associated with TissGene (DisGeNet, 2016-06-01) |
| Disease ID | Disease name | # pubmeds | Source |
| umls:C0026760 | Multiple Epiphyseal Dysplasia | 12 | BeFree |
| umls:C0025149 | Medulloblastoma | 8 | BeFree |
| umls:C0002312 | alpha-Thalassemia | 4 | BeFree |
| umls:C0029408 | Degenerative polyarthritis | 4 | BeFree,GAD |
| umls:C0041834 | Erythema | 4 | BeFree |
| umls:C0265253 | Stickler syndrome (disorder) | 4 | BeFree |
| umls:C1456873 | alpha^+^ Thalassemia | 4 | BeFree |
| umls:C0272002 | alpha^0^ Thalassemia | 3 | BeFree |
| umls:C0009081 | Congenital clubfoot | 2 | BeFree,GAD |
| umls:C0017638 | Glioma | 2 | BeFree |
| umls:C0020445 | Hypercholesterolemia, Familial | 2 | BeFree |
| umls:C0029410 | Osteoarthritis of hip | 2 | BeFree |
| umls:C0029422 | Osteochondrodysplasias | 2 | CTD_human,LHGDN |
| umls:C0410538 | Pseudoachondroplasia | 2 | BeFree |
| umls:C0002726 | Amyloidosis | 1 | BeFree |
| umls:C0018784 | Sensorineural Hearing Loss (disorder) | 1 | CTD_human |
| umls:C0019693 | HIV Infections | 1 | BeFree |
| umls:C0020305 | Hydrops Fetalis | 1 | BeFree |
| umls:C0021818 | Intervertebral Disk Displacement | 1 | GAD |
| umls:C0025517 | Metabolic Diseases | 1 | BeFree |
| umls:C0027092 | Myopia | 1 | CTD_human |
| umls:C0027765 | nervous system disorder | 1 | BeFree |
| umls:C0031069 | Familial Mediterranean Fever | 1 | BeFree |
| umls:C0035309 | Retinal Diseases | 1 | CTD_human |
| umls:C0039730 | Thalassemia | 1 | BeFree |
| umls:C0040336 | Tobacco Use Disorder | 1 | GAD |
| umls:C0154822 | Serous retinal detachment | 1 | BeFree |
| umls:C0158489 | Acquired clubfoot | 1 | GAD |
| umls:C0205748 | Dysplastic Nevus | 1 | BeFree |
| umls:C0220726 | Diastrophic dysplasia | 1 | BeFree |
| umls:C0343284 | Chondrodysplasia | 1 | BeFree |
| umls:C0409952 | Idiopathic osteoarthritis | 1 | BeFree |
| umls:C0472761 | Homozygous alpha thalassemia | 1 | BeFree |
| umls:C0751214 | Hyperalgesia, Thermal | 1 | BeFree |
| umls:C1261473 | Sarcoma | 1 | BeFree |
| umls:C1384584 | Generalized osteoarthritis | 1 | BeFree |
| umls:C2745963 | Kashin-Beck Disease | 1 | BeFree |
| umls:C3887876 | OSTEOARTHRITIS SUSCEPTIBILITY 1 | 0 | MGD |
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