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Center for Computational Systems Medicine
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Fusion Gene Summary

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Fusion Gene ORF analysis

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Fusion Genomic Features

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Fusion Protein Features

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Fusion Gene Sequence

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Fusion Gene PPI analysis

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Related Drugs

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Related Diseases

Fusion gene:TSPAN13-AHR (FusionGDB2 ID:94039)

Fusion Gene Summary for TSPAN13-AHR

check button Fusion gene summary
Fusion gene informationFusion gene name: TSPAN13-AHR
Fusion gene ID: 94039
HgeneTgene
Gene symbol

TSPAN13

AHR

Gene ID

27075

196

Gene nametetraspanin 13aryl hydrocarbon receptor
SynonymsNET-6|NET6|TM4SF13RP85|bHLHe76
Cytomap

7p21.1

7p21.1

Type of geneprotein-codingprotein-coding
Descriptiontetraspanin-13tetraspan NET-6transmembrane 4 superfamily member 13transmembrane 4 superfamily member tetraspan NET-6tspan-13aryl hydrocarbon receptorAH-receptorah receptoraromatic hydrocarbon receptorclass E basic helix-loop-helix protein 76
Modification date2020031320200322
UniProtAcc.

A9YTQ3

Ensembl transtripts involved in fusion geneENST00000262067, ENST00000466195, 
ENST00000242057, ENST00000492120, 
Fusion gene scores* DoF score5 X 4 X 3=604 X 4 X 2=32
# samples 54
** MAII scorelog2(5/60*10)=-0.263034405833794
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(4/32*10)=0.321928094887362
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
Context

PubMed: TSPAN13 [Title/Abstract] AND AHR [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointAHR(17338953)-TSPAN13(16815836), # samples:3
TSPAN13(16793655)-AHR(17349559), # samples:1
Anticipated loss of major functional domain due to fusion event.TSPAN13-AHR seems lost the major protein functional domain in Hgene partner, which is a tumor suppressor due to the frame-shifted ORF.
TSPAN13-AHR seems lost the major protein functional domain in Tgene partner, which is a transcription factor due to the frame-shifted ORF.
TSPAN13-AHR seems lost the major protein functional domain in Tgene partner, which is a tumor suppressor due to the frame-shifted ORF.
TSPAN13-AHR seems lost the major protein functional domain in Tgene partner, which is a IUPHAR drug target due to the frame-shifted ORF.
AHR-TSPAN13 seems lost the major protein functional domain in Hgene partner, which is a transcription factor due to the frame-shifted ORF.
AHR-TSPAN13 seems lost the major protein functional domain in Hgene partner, which is a tumor suppressor due to the frame-shifted ORF.
AHR-TSPAN13 seems lost the major protein functional domain in Hgene partner, which is a IUPHAR drug target due to the frame-shifted ORF.
AHR-TSPAN13 seems lost the major protein functional domain in Tgene partner, which is a tumor suppressor due to the frame-shifted ORF.
* 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
TgeneAHR

GO:0006355

regulation of transcription, DNA-templated

10395741

TgeneAHR

GO:0006357

regulation of transcription by RNA polymerase II

15681594

TgeneAHR

GO:0006366

transcription by RNA polymerase II

10395741

TgeneAHR

GO:0009410

response to xenobiotic stimulus

7961644

TgeneAHR

GO:0009636

response to toxic substance

7961644

TgeneAHR

GO:0010468

regulation of gene expression

15681594

TgeneAHR

GO:0019933

cAMP-mediated signaling

17329248

TgeneAHR

GO:0030888

regulation of B cell proliferation

15681594

TgeneAHR

GO:0071320

cellular response to cAMP

17329248

TgeneAHR

GO:1904322

cellular response to forskolin

17329248

TgeneAHR

GO:1904613

cellular response to 2,3,7,8-tetrachlorodibenzodioxine

17329248


check buttonFusion gene breakpoints across TSPAN13 (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 AHR (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
ChimerDB4OVTCGA-20-1685TSPAN13chr7

16793655

+AHRchr7

17349559

+


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Fusion Gene ORF analysis for TSPAN13-AHR

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
Frame-shiftENST00000262067ENST00000242057TSPAN13chr7

16793655

+AHRchr7

17349559

+
5CDS-intronENST00000262067ENST00000492120TSPAN13chr7

16793655

+AHRchr7

17349559

+
intron-3CDSENST00000466195ENST00000242057TSPAN13chr7

16793655

+AHRchr7

17349559

+
intron-intronENST00000466195ENST00000492120TSPAN13chr7

16793655

+AHRchr7

17349559

+

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

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Fusion Genomic Features for TSPAN13-AHR


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)
TSPAN13chr716793655+AHRchr717349559+0.0005250280.99947494
TSPAN13chr716793655+AHRchr717349559+0.0005250280.99947494

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.

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Fusion Protein Features for TSPAN13-AHR


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
.AHR

A9YTQ3

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: Mediates dioxin toxicity and is involved in regulation of cell growth and differentiation. Represses the transcription activity of AHR by competing with this transcription factor for heterodimer formation with the ARNT and subsequently binding to the xenobiotic response element (XRE) sequence present in the promoter regulatory region of variety of genes. Represses CYP1A1 by binding the XRE sequence and recruiting ANKRA2, HDAC4 and/or HDAC5. Autoregulates its expression by associating with its own XRE site. {ECO:0000269|PubMed:17890447, ECO:0000269|PubMed:18172554}.

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


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Fusion Gene Sequence for TSPAN13-AHR


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.

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Fusion Gene PPI Analysis for TSPAN13-AHR


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


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Related Drugs for TSPAN13-AHR


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

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Related Diseases for TSPAN13-AHR


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
TgeneAHRC0006142Malignant neoplasm of breast2CTD_human
TgeneAHRC0019209Hepatomegaly2CTD_human
TgeneAHRC0021368Inflammation2CTD_human
TgeneAHRC0023895Liver diseases2CTD_human
TgeneAHRC0023903Liver neoplasms2CTD_human
TgeneAHRC0027626Neoplasm Invasiveness2CTD_human
TgeneAHRC0028754Obesity2CTD_human
TgeneAHRC0030297Pancreatic Neoplasm2CTD_human
TgeneAHRC0043094Weight Gain2CTD_human
TgeneAHRC0086565Liver Dysfunction2CTD_human
TgeneAHRC0149721Left Ventricular Hypertrophy2CTD_human
TgeneAHRC0333641Atrophic2CTD_human
TgeneAHRC0345904Malignant neoplasm of liver2CTD_human
TgeneAHRC0346647Malignant neoplasm of pancreas2CTD_human
TgeneAHRC0678222Breast Carcinoma2CTD_human
TgeneAHRC1257931Mammary Neoplasms, Human2CTD_human
TgeneAHRC1458155Mammary Neoplasms2CTD_human
TgeneAHRC4704874Mammary Carcinoma, Human2CTD_human
TgeneAHRC0000786Spontaneous abortion1CTD_human
TgeneAHRC0000822Abortion, Tubal1CTD_human
TgeneAHRC0003865Arthritis, Adjuvant-Induced1CTD_human
TgeneAHRC0003873Rheumatoid Arthritis1CTD_human
TgeneAHRC0004153Atherosclerosis1CTD_human
TgeneAHRC0004943Behcet Syndrome1CTD_human
TgeneAHRC0005612Birth Weight1CTD_human
TgeneAHRC0005683Urinary Bladder Calculi (disorder)1CTD_human
TgeneAHRC0005974Bone Resorption1CTD_human
TgeneAHRC0006826Malignant Neoplasms1CTD_human
TgeneAHRC0009319Colitis1CTD_human
TgeneAHRC0011616Contact Dermatitis1CTD_human
TgeneAHRC0018273Growth Disorders1CTD_human
TgeneAHRC0018798Congenital Heart Defects1CTD_human
TgeneAHRC0018800Cardiomegaly1CTD_human
TgeneAHRC0019193Hepatitis, Toxic1CTD_human
TgeneAHRC0020538Hypertensive disease1CTD_human
TgeneAHRC0020564Hypertrophy1CTD_human
TgeneAHRC0020578Hyperventilation1CTD_human
TgeneAHRC0021364Male infertility1CTD_human
TgeneAHRC0021655Insulin Resistance1CTD_human
TgeneAHRC0023890Liver Cirrhosis1CTD_human
TgeneAHRC0024623Malignant neoplasm of stomach1CTD_human
TgeneAHRC0025517Metabolic Diseases1CTD_human
TgeneAHRC0027540Necrosis1CTD_human
TgeneAHRC0027627Neoplasm Metastasis1CTD_human
TgeneAHRC0027651Neoplasms1CTD_human
TgeneAHRC0027659Neoplasms, Experimental1CTD_human
TgeneAHRC0028043Nicotine Dependence1CTD_human
TgeneAHRC0032285Pneumonia1CTD_human
TgeneAHRC0032300Lobar Pneumonia1CTD_human
TgeneAHRC0033578Prostatic Neoplasms1CTD_human
TgeneAHRC0035334Retinitis Pigmentosa1ORPHANET
TgeneAHRC0037116Silicosis1CTD_human
TgeneAHRC0037997Splenic Diseases1CTD_human
TgeneAHRC0038002Splenomegaly1CTD_human
TgeneAHRC0038356Stomach Neoplasms1CTD_human
TgeneAHRC0039231Tachycardia1CTD_human
TgeneAHRC0040332Tobacco Dependence1CTD_human
TgeneAHRC0041955Ureteral Neoplasms1CTD_human
TgeneAHRC0042373Vascular Diseases1CTD_human
TgeneAHRC0080203Tachyarrhythmia1CTD_human
TgeneAHRC0086692Benign Neoplasm1CTD_human
TgeneAHRC0152013Adenocarcinoma of lung (disorder)1CTD_human
TgeneAHRC0153619Malignant neoplasm of ureter1CTD_human
TgeneAHRC0162351Contact hypersensitivity1CTD_human
TgeneAHRC0162834Hyperpigmentation1CTD_human
TgeneAHRC0236811Chronobiology Disorders1CTD_human
TgeneAHRC0239946Fibrosis, Liver1CTD_human
TgeneAHRC0242339Dyslipidemias1CTD_human
TgeneAHRC0242706Hyperoxia1CTD_human
TgeneAHRC0273115Lung Injury1CTD_human
TgeneAHRC0376358Malignant neoplasm of prostate1CTD_human
TgeneAHRC0376384Nicotine Use Disorder1CTD_human
TgeneAHRC0400966Non-alcoholic Fatty Liver Disease1CTD_human
TgeneAHRC0559470Allergy to peanuts1CTD_human
TgeneAHRC0598784Dyslipoproteinemias1CTD_human
TgeneAHRC0700501Congenital nystagmus1CTD_human
TgeneAHRC0813142Circadian Rhythm Disorders1CTD_human
TgeneAHRC0848676Subfertility, Male1CTD_human
TgeneAHRC0860207Drug-Induced Liver Disease1CTD_human
TgeneAHRC0887800Psychogenic Inversion of Circadian Rhythm1CTD_human
TgeneAHRC0887898Experimental Lung Inflammation1CTD_human
TgeneAHRC0917731Male sterility1CTD_human
TgeneAHRC0920563Insulin Sensitivity1CTD_human
TgeneAHRC0971858Arthritis, Collagen-Induced1CTD_human
TgeneAHRC0993582Arthritis, Experimental1CTD_human
TgeneAHRC1262760Hepatitis, Drug-Induced1CTD_human
TgeneAHRC1383860Cardiac Hypertrophy1CTD_human
TgeneAHRC1563937Atherogenesis1CTD_human
TgeneAHRC1708349Hereditary Diffuse Gastric Cancer1CTD_human
TgeneAHRC2350344Chronic Lung Injury1CTD_human
TgeneAHRC2673809Infantile nystagmus1GENOMICS_ENGLAND
TgeneAHRC2931037Pancreatic cancer, adult1CTD_human
TgeneAHRC3241937Nonalcoholic Steatohepatitis1CTD_human
TgeneAHRC3658290Drug-Induced Acute Liver Injury1CTD_human
TgeneAHRC3714636Pneumonitis1CTD_human
TgeneAHRC3830362Early Pregnancy Loss1CTD_human
TgeneAHRC4277682Chemical and Drug Induced Liver Injury1CTD_human
TgeneAHRC4279912Chemically-Induced Liver Toxicity1CTD_human
TgeneAHRC4552766Miscarriage1CTD_human