FusionGDB Logo

Home

Download

Statistics

Examples

Help

Contact
Center for Computational Systems Medicine
leaf

Fusion Gene Summary

leaf

Fusion Gene ORF analysis

leaf

Fusion Genomic Features

leaf

Fusion Protein Features

leaf

Fusion Gene Sequence

leaf

Fusion Gene PPI analysis

leaf

Related Drugs

leaf

Related Diseases

Fusion gene:COL1A1-TNXB (FusionGDB2 ID:18171)

Fusion Gene Summary for COL1A1-TNXB

check button Fusion gene summary
Fusion gene informationFusion gene name: COL1A1-TNXB
Fusion gene ID: 18171
HgeneTgene
Gene symbol

COL1A1

TNXB

Gene ID

1277

7148

Gene namecollagen type I alpha 1 chaintenascin XB
SynonymsCAFYD|EDSARTH1|EDSC|OI1|OI2|OI3|OI4EDS3|EDSCLL|EDSCLL1|HXBL|TENX|TN-X|TNX|TNXB1|TNXB2|TNXBS|VUR8|XB|XBS
Cytomap

17q21.33

6p21.33-p21.32

Type of geneprotein-codingprotein-coding
Descriptioncollagen alpha-1(I) chainalpha-1 type I collagenalpha1(I) procollagencollagen alpha 1 chain type Icollagen alpha-1(I) chain preproproteincollagen of skin, tendon and bone, alpha-1 chaincollagen, type I, alpha 1pro-alpha-1 collagen type 1type I protenascin-Xgrowth-inhibiting protein 45hexabrachion-like proteintenascin XB1tenascin XB2
Modification date2020032220200313
UniProtAcc..
Ensembl transtripts involved in fusion geneENST00000225964, ENST00000375244, 
ENST00000451343, ENST00000375247, 
ENST00000479795, ENST00000433037, 
ENST00000549232, ENST00000383159, 
ENST00000489006, ENST00000469250, 
ENST00000440248, ENST00000550212, 
ENST00000548649, ENST00000424718, 
ENST00000475986, ENST00000550539, 
ENST00000471059, ENST00000551808, 
ENST00000548628, ENST00000549652, 
ENST00000553092, ENST00000552665, 
ENST00000465958, ENST00000546684, 
ENST00000464376, ENST00000552149, 
ENST00000551201, 
Fusion gene scores* DoF score56 X 95 X 16=851206 X 6 X 5=180
# samples 867
** MAII scorelog2(86/85120*10)=-6.62901768079909
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(7/180*10)=-1.36257007938471
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: COL1A1 [Title/Abstract] AND TNXB [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointCOL1A1(48261534)-TNXB(32021323), # samples:1
Anticipated loss of major functional domain due to fusion event.
* DoF score (Degree of Frequency) = # partners X # break points X # cancer types
** MAII score (Major Active Isofusion Index) = log2(# samples/DoF score*10)

check button Gene ontology of each fusion partner gene with evidence of Inferred from Direct Assay (IDA) from Entrez
PartnerGeneGO IDGO termPubMed ID
HgeneCOL1A1

GO:0010718

positive regulation of epithelial to mesenchymal transition

20018240

HgeneCOL1A1

GO:0030335

positive regulation of cell migration

20018240

HgeneCOL1A1

GO:0034504

protein localization to nucleus

20018240

HgeneCOL1A1

GO:0045893

positive regulation of transcription, DNA-templated

20018240

HgeneCOL1A1

GO:0090263

positive regulation of canonical Wnt signaling pathway

20018240


check buttonFusion gene breakpoints across COL1A1 (5'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.

check buttonFusion gene breakpoints across TNXB (3'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.

check button Fusion gene information from two resources (ChiTars 5.0 and ChimerDB 4.0)
* All genome coordinats were lifted-over on hg19.
* Click on the break point to see the gene structure around the break point region using the UCSC Genome Browser.
SourceDiseaseSampleHgeneHchrHbpHstrandTgeneTchrTbpTstrand
ChiTaRS5.0N/AAI868659COL1A1chr17

48261534

+TNXBchr6

32021323

+


Top

Fusion Gene ORF analysis for COL1A1-TNXB

check button Open reading frame (ORF) analsis of fusion genes based on Ensembl gene isoform structure.
* Click on the break point to see the gene structure around the break point region using the UCSC Genome Browser.
ORFHenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrand
intron-3CDSENST00000225964ENST00000375244COL1A1chr17

48261534

+TNXBchr6

32021323

+
intron-intronENST00000225964ENST00000451343COL1A1chr17

48261534

+TNXBchr6

32021323

+
intron-intronENST00000225964ENST00000375247COL1A1chr17

48261534

+TNXBchr6

32021323

+
intron-intronENST00000225964ENST00000479795COL1A1chr17

48261534

+TNXBchr6

32021323

+
intron-intronENST00000225964ENST00000433037COL1A1chr17

48261534

+TNXBchr6

32021323

+
intron-intronENST00000225964ENST00000549232COL1A1chr17

48261534

+TNXBchr6

32021323

+
intron-intronENST00000225964ENST00000383159COL1A1chr17

48261534

+TNXBchr6

32021323

+
intron-intronENST00000225964ENST00000489006COL1A1chr17

48261534

+TNXBchr6

32021323

+
intron-intronENST00000225964ENST00000469250COL1A1chr17

48261534

+TNXBchr6

32021323

+
intron-intronENST00000225964ENST00000440248COL1A1chr17

48261534

+TNXBchr6

32021323

+
intron-intronENST00000225964ENST00000550212COL1A1chr17

48261534

+TNXBchr6

32021323

+
intron-intronENST00000225964ENST00000548649COL1A1chr17

48261534

+TNXBchr6

32021323

+
intron-intronENST00000225964ENST00000424718COL1A1chr17

48261534

+TNXBchr6

32021323

+
intron-intronENST00000225964ENST00000475986COL1A1chr17

48261534

+TNXBchr6

32021323

+
intron-intronENST00000225964ENST00000550539COL1A1chr17

48261534

+TNXBchr6

32021323

+
intron-intronENST00000225964ENST00000471059COL1A1chr17

48261534

+TNXBchr6

32021323

+
intron-intronENST00000225964ENST00000551808COL1A1chr17

48261534

+TNXBchr6

32021323

+
intron-intronENST00000225964ENST00000548628COL1A1chr17

48261534

+TNXBchr6

32021323

+
intron-intronENST00000225964ENST00000549652COL1A1chr17

48261534

+TNXBchr6

32021323

+
intron-intronENST00000225964ENST00000553092COL1A1chr17

48261534

+TNXBchr6

32021323

+
intron-intronENST00000225964ENST00000552665COL1A1chr17

48261534

+TNXBchr6

32021323

+
intron-intronENST00000225964ENST00000465958COL1A1chr17

48261534

+TNXBchr6

32021323

+
intron-intronENST00000225964ENST00000546684COL1A1chr17

48261534

+TNXBchr6

32021323

+
intron-intronENST00000225964ENST00000464376COL1A1chr17

48261534

+TNXBchr6

32021323

+
intron-intronENST00000225964ENST00000552149COL1A1chr17

48261534

+TNXBchr6

32021323

+
intron-intronENST00000225964ENST00000551201COL1A1chr17

48261534

+TNXBchr6

32021323

+

check buttonORFfinder result based on the fusion transcript sequence of in-frame fusion genes.
HenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrandSeq length
(transcript)		BP loci
(transcript)		Predicted start
(transcript)		Predicted stop
(transcript)		Seq length
(amino acids)

check buttonDeepORF prediction of the coding potential based on the fusion transcript sequence of in-frame fusion genes. DeepORF is a coding potential classifier based on convolutional neural network by comparing the real Ribo-seq data. If the no-coding score < 0.5 and coding score > 0.5, then the in-frame fusion transcript is predicted as being likely translated.
HenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrandNo-coding scoreCoding score

Top

Fusion Genomic Features for COL1A1-TNXB


check buttonFusionAI prediction of the potential fusion gene breakpoint based on the pre-mature RNA sequence context (+/- 5kb of individual partner genes, total 20kb length sequence). FusionAI is a fusion gene breakpoint classifier based on convolutional neural network by comparing the fusion positive and negative sequence context of ~ 20K fusion gene data. From here, we can have the relative potentency of the 20K genomic sequence how individual sequnce will be likely used as the gene fusion breakpoints.
HgeneHchrHbpHstrandTgeneTchrTbpTstrand1-pp (fusion gene breakpoint)

check buttonDistribution of 44 human genomic features loci across 20kb length fusion breakpoint regions. We integrated a total of 44 different types of human genomic feature loci information across five big categories including virus integration sites, repeats, structural variants, chromatin states, and gene expression regulation. More details are in help page.

check buttonDistribution of 44 human genomic features loci across 20kb length fusion breakpoint regions that are ovelapped with the top 1% feature importance score regions. More details are in help page.

Top

Fusion Protein Features for COL1A1-TNXB


check button Go to

FGviewer for the breakpoints of :-:

.
- FGviewer provides the online visualization of the retention search of the protein functional features across DNA, RNA, protein, and pathological levels.
FGviewer

check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
..
FUNCTION: Might normally function as a transcriptional repressor. EWS-fusion-proteins (EFPS) may play a role in the tumorigenic process. They may disturb gene expression by mimicking, or interfering with the normal function of CTD-POLII within the transcription initiation complex. They may also contribute to an aberrant activation of the fusion protein target genes.FUNCTION: Might normally function as a transcriptional repressor. EWS-fusion-proteins (EFPS) may play a role in the tumorigenic process. They may disturb gene expression by mimicking, or interfering with the normal function of CTD-POLII within the transcription initiation complex. They may also contribute to an aberrant activation of the fusion protein target genes.

check buttonRetention analysis result of each fusion partner protein across 39 protein features of UniProt such as six molecule processing features, 13 region features, four site features, six amino acid modification features, two natural variation features, five experimental info features, and 3 secondary structure features. Here, because of limited space for viewing, we only show the protein feature retention information belong to the 13 regional features. All retention annotation result can be downloaded at

download page


* Minus value of BPloci means that the break pointn is located before the CDS.
- In-frame and retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note

- In-frame and not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note


Top

Fusion Gene Sequence for COL1A1-TNXB


check button For in-frame fusion transcripts, we provide the fusion transcript sequences and fusion amino acid sequences. To have fusion amino acid sequence, we ran ORFfinder and chose the longest ORF among the all predicted ones.

Top

Fusion Gene PPI Analysis for COL1A1-TNXB


check button Go to ChiPPI (Chimeric Protein-Protein interactions) to see the chimeric PPI interaction in

ChiPPI page.


check button Protein-protein interactors with each fusion partner protein in wild-type (BIOGRID-3.4.160)
HgeneHgene's interactorsTgeneTgene's interactors


check button - Retained PPIs in in-frame fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenStill interaction with


check button - Lost PPIs in in-frame fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenInteraction lost with


check button - Retained PPIs, but lost function due to frame-shift fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenInteraction lost with


Top

Related Drugs for COL1A1-TNXB


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.8 2021-05-08)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status

Top

Related Diseases for COL1A1-TNXB


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneCOL1A1C0268358Osteogenesis imperfecta, dominant perinatal lethal38CTD_human;GENOMICS_ENGLAND;ORPHANET;UNIPROT
HgeneCOL1A1C0268362Osteogenesis imperfecta type III (disorder)17CTD_human;GENOMICS_ENGLAND;ORPHANET;UNIPROT
HgeneCOL1A1C0023931Lobstein Disease15CTD_human;GENOMICS_ENGLAND;ORPHANET;UNIPROT
HgeneCOL1A1C0268363Osteogenesis imperfecta type IV (disorder)12GENOMICS_ENGLAND;ORPHANET;UNIPROT
HgeneCOL1A1C0023890Liver Cirrhosis4CTD_human
HgeneCOL1A1C0239946Fibrosis, Liver4CTD_human
HgeneCOL1A1C4551623EHLERS-DANLOS SYNDROME, ARTHROCHALASIA TYPE, 14CTD_human;GENOMICS_ENGLAND
HgeneCOL1A1C4552122EHLERS-DANLOS SYNDROME, CLASSIC TYPE, 14GENOMICS_ENGLAND;UNIPROT
HgeneCOL1A1C0020497Cortical Congenital Hyperostosis3CTD_human;GENOMICS_ENGLAND;UNIPROT
HgeneCOL1A1C0023893Liver Cirrhosis, Experimental3CTD_human
HgeneCOL1A1C0268345EHLERS-DANLOS SYNDROME, ARTHROCHALASIA TYPE2ORPHANET
HgeneCOL1A1C0000786Spontaneous abortion1CTD_human
HgeneCOL1A1C0000822Abortion, Tubal1CTD_human
HgeneCOL1A1C0002949Aneurysm, Dissecting1CTD_human
HgeneCOL1A1C0003504Aortic Valve Insufficiency1CTD_human
HgeneCOL1A1C0004364Autoimmune Diseases1CTD_human
HgeneCOL1A1C0005398Cholestasis, Extrahepatic1CTD_human
HgeneCOL1A1C0005779Blood Coagulation Disorders1GENOMICS_ENGLAND
HgeneCOL1A1C0006663Calcinosis1CTD_human
HgeneCOL1A1C0008311Cholangitis1CTD_human
HgeneCOL1A1C0013720Ehlers-Danlos Syndrome1GENOMICS_ENGLAND
HgeneCOL1A1C0016059Fibrosis1CTD_human
HgeneCOL1A1C0018824Heart valve disease1CTD_human
HgeneCOL1A1C0020538Hypertensive disease1CTD_human
HgeneCOL1A1C0022548Keloid1CTD_human
HgeneCOL1A1C0027719Nephrosclerosis1CTD_human
HgeneCOL1A1C0027726Nephrotic Syndrome1CTD_human
HgeneCOL1A1C0029172Oral Submucous Fibrosis1CTD_human
HgeneCOL1A1C0029434Osteogenesis Imperfecta1CTD_human;GENOMICS_ENGLAND
HgeneCOL1A1C0149721Left Ventricular Hypertrophy1CTD_human
HgeneCOL1A1C0220679Ehlers-Danlos Syndrome, Autosomal Dominant, Type Unspecified1ORPHANET
HgeneCOL1A1C0263628Tumoral calcinosis1CTD_human
HgeneCOL1A1C0340643Dissection of aorta1CTD_human
HgeneCOL1A1C0521174Microcalcification1CTD_human
HgeneCOL1A1C1458140Bleeding tendency1GENOMICS_ENGLAND
HgeneCOL1A1C1619692Nephrogenic Fibrosing Dermopathy1CTD_human
HgeneCOL1A1C1623038Cirrhosis1CTD_human
HgeneCOL1A1C1846545Autoimmune Lymphoproliferative Syndrome Type 2B1GENOMICS_ENGLAND
HgeneCOL1A1C3830362Early Pregnancy Loss1CTD_human
HgeneCOL1A1C4277533Dissection, Blood Vessel1CTD_human
HgeneCOL1A1C4552766Miscarriage1CTD_human
TgeneTNXBC1848029Ehlers-Danlos syndrome caused by tenascin-X deficiency4CTD_human;GENOMICS_ENGLAND;ORPHANET;UNIPROT
TgeneTNXBC0036341Schizophrenia3PSYGENET
TgeneTNXBC0279626Squamous cell carcinoma of esophagus1CTD_human
TgeneTNXBC4014831VESICOURETERAL REFLUX 81GENOMICS_ENGLAND;UNIPROT
TgeneTNXBC4706552Familial vesicoureteral reflux1ORPHANET