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Center for Computational Systems Medicine
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FusionGeneSummary

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FusionProtFeature

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FusionGeneSequence

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FusionGenePPI

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RelatedDrugs

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RelatedDiseases

Fusion gene ID: 35688

FusionGeneSummary for SPIDR_TGFB1

check button Fusion gene summary
Fusion gene informationFusion gene name: SPIDR_TGFB1
Fusion gene ID: 35688
HgeneTgene
Gene symbol

SPIDR

TGFB1

Gene ID

23514

7040

Gene namescaffold protein involved in DNA repairtransforming growth factor beta 1
SynonymsKIAA0146CED|DPD1|LAP|TGFB|TGFbeta
Cytomap

8q11.21

19q13.2

Type of geneprotein-codingprotein-coding
DescriptionDNA repair-scaffolding proteinscaffolding protein involved in DNA repairtransforming growth factor beta-1TGF-beta-1latency-associated peptideprepro-transforming growth factor beta-1
Modification date2018052320180527
UniProtAcc

Q14159

P01137

Ensembl transtripts involved in fusion geneENST00000297423, ENST00000518074, 
ENST00000541342, ENST00000521214, 
ENST00000517693, ENST00000518060, 
ENST00000221930, 
Fusion gene scores* DoF score16 X 11 X 13=22886 X 5 X 4=120
# samples 216
** MAII scorelog2(21/2288*10)=-3.44562581911227
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(6/120*10)=-1
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: SPIDR [Title/Abstract] AND TGFB1 [Title/Abstract] AND fusion [Title/Abstract]

Functional or gene categories assigned by FusionGDB annotation
* 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
HgeneSPIDR

GO:0006974

cellular response to DNA damage stimulus

23509288

HgeneSPIDR

GO:0010569

regulation of double-strand break repair via homologous recombination

23754376

HgeneSPIDR

GO:0031334

positive regulation of protein complex assembly

23509288

HgeneSPIDR

GO:0070202

regulation of establishment of protein localization to chromosome

23509288

HgeneSPIDR

GO:0071479

cellular response to ionizing radiation

23509288|23754376

HgeneSPIDR

GO:0072711

cellular response to hydroxyurea

23509288

HgeneSPIDR

GO:0072757

cellular response to camptothecin

23509288

TgeneTGFB1

GO:0000060

protein import into nucleus, translocation

21390327

TgeneTGFB1

GO:0001837

epithelial to mesenchymal transition

25893292

TgeneTGFB1

GO:0001933

negative regulation of protein phosphorylation

8053900

TgeneTGFB1

GO:0001934

positive regulation of protein phosphorylation

18625725

TgeneTGFB1

GO:0002062

chondrocyte differentiation

15040835

TgeneTGFB1

GO:0002244

hematopoietic progenitor cell differentiation

15451575

TgeneTGFB1

GO:0006611

protein export from nucleus

9770491|17438144|18588859

TgeneTGFB1

GO:0006754

ATP biosynthetic process

10513816

TgeneTGFB1

GO:0006796

phosphate-containing compound metabolic process

10513816

TgeneTGFB1

GO:0006954

inflammatory response

21147091

TgeneTGFB1

GO:0007050

cell cycle arrest

14555988

TgeneTGFB1

GO:0007093

mitotic cell cycle checkpoint

15334054

TgeneTGFB1

GO:0007173

epidermal growth factor receptor signaling pathway

18625725

TgeneTGFB1

GO:0007179

transforming growth factor beta receptor signaling pathway

9389648|11157754

TgeneTGFB1

GO:0007182

common-partner SMAD protein phosphorylation

20573232

TgeneTGFB1

GO:0007183

SMAD protein complex assembly

17438144

TgeneTGFB1

GO:0008284

positive regulation of cell proliferation

10513816|14633705

TgeneTGFB1

GO:0008285

negative regulation of cell proliferation

15334054

TgeneTGFB1

GO:0010628

positive regulation of gene expression

18625725|18832382|19913496|25322725|26687115|27162619

TgeneTGFB1

GO:0010629

negative regulation of gene expression

19913496|20067797|22269326|25163461

TgeneTGFB1

GO:0010718

positive regulation of epithelial to mesenchymal transition

17999987|18505915

TgeneTGFB1

GO:0010763

positive regulation of fibroblast migration

18555217

TgeneTGFB1

GO:0010800

positive regulation of peptidyl-threonine phosphorylation

18625725|19736306

TgeneTGFB1

GO:0010862

positive regulation of pathway-restricted SMAD protein phosphorylation

9389648|19736306

TgeneTGFB1

GO:0010936

negative regulation of macrophage cytokine production

20875417

TgeneTGFB1

GO:0016477

cell migration

25893292

TgeneTGFB1

GO:0017015

regulation of transforming growth factor beta receptor signaling pathway

15334054

TgeneTGFB1

GO:0019049

evasion or tolerance of host defenses by virus

15334054

TgeneTGFB1

GO:0022408

negative regulation of cell-cell adhesion

18593713

TgeneTGFB1

GO:0030214

hyaluronan catabolic process

17324121

TgeneTGFB1

GO:0030308

negative regulation of cell growth

15334054

TgeneTGFB1

GO:0030335

positive regulation of cell migration

19736306

TgeneTGFB1

GO:0031293

membrane protein intracellular domain proteolysis

25310401

TgeneTGFB1

GO:0031334

positive regulation of protein complex assembly

19366691

TgeneTGFB1

GO:0031663

lipopolysaccharide-mediated signaling pathway

21147091

TgeneTGFB1

GO:0032270

positive regulation of cellular protein metabolic process

15219857

TgeneTGFB1

GO:0032355

response to estradiol

18039789

TgeneTGFB1

GO:0032570

response to progesterone

18039789

TgeneTGFB1

GO:0032740

positive regulation of interleukin-17 production

18453574

TgeneTGFB1

GO:0032801

receptor catabolic process

17878231

TgeneTGFB1

GO:0032930

positive regulation of superoxide anion generation

22073128

TgeneTGFB1

GO:0032967

positive regulation of collagen biosynthetic process

19734317|22269326|25310401

TgeneTGFB1

GO:0033138

positive regulation of peptidyl-serine phosphorylation

18625725|19736306

TgeneTGFB1

GO:0035307

positive regulation of protein dephosphorylation

14555988

TgeneTGFB1

GO:0042307

positive regulation of protein import into nucleus

19366691

TgeneTGFB1

GO:0043117

positive regulation of vascular permeability

21168935

TgeneTGFB1

GO:0043406

positive regulation of MAP kinase activity

18625725

TgeneTGFB1

GO:0043536

positive regulation of blood vessel endothelial cell migration

18555217

TgeneTGFB1

GO:0043537

negative regulation of blood vessel endothelial cell migration

18555217

TgeneTGFB1

GO:0043552

positive regulation of phosphatidylinositol 3-kinase activity

18625725

TgeneTGFB1

GO:0045216

cell-cell junction organization

18505915

TgeneTGFB1

GO:0045599

negative regulation of fat cell differentiation

15040835

TgeneTGFB1

GO:0045662

negative regulation of myoblast differentiation

9770491

TgeneTGFB1

GO:0045786

negative regulation of cell cycle

11502704

TgeneTGFB1

GO:0045892

negative regulation of transcription, DNA-templated

15702480|18832382

TgeneTGFB1

GO:0045893

positive regulation of transcription, DNA-templated

9389648|14517293|15334054|16816361

TgeneTGFB1

GO:0045930

negative regulation of mitotic cell cycle

14555988

TgeneTGFB1

GO:0045944

positive regulation of transcription by RNA polymerase II

18832382

TgeneTGFB1

GO:0048298

positive regulation of isotype switching to IgA isotypes

14988498

TgeneTGFB1

GO:0048642

negative regulation of skeletal muscle tissue development

9770491

TgeneTGFB1

GO:0050680

negative regulation of epithelial cell proliferation

9950587

TgeneTGFB1

GO:0050714

positive regulation of protein secretion

18505915

TgeneTGFB1

GO:0050731

positive regulation of peptidyl-tyrosine phosphorylation

21168935

TgeneTGFB1

GO:0050921

positive regulation of chemotaxis

18555217

TgeneTGFB1

GO:0051897

positive regulation of protein kinase B signaling

18625725

TgeneTGFB1

GO:0060389

pathway-restricted SMAD protein phosphorylation

11157754|17999987|18453574|25893292

TgeneTGFB1

GO:0060390

regulation of SMAD protein signal transduction

25893292

TgeneTGFB1

GO:0060391

positive regulation of SMAD protein signal transduction

9389648|19366691

TgeneTGFB1

GO:0070374

positive regulation of ERK1 and ERK2 cascade

25310401

TgeneTGFB1

GO:0070723

response to cholesterol

17878231

TgeneTGFB1

GO:0071407

cellular response to organic cyclic compound

21147091

TgeneTGFB1

GO:0071560

cellular response to transforming growth factor beta stimulus

19736306|22269326

TgeneTGFB1

GO:0085029

extracellular matrix assembly

19734317

TgeneTGFB1

GO:0097191

extrinsic apoptotic signaling pathway

15334054

TgeneTGFB1

GO:1900126

negative regulation of hyaluronan biosynthetic process

17324121

TgeneTGFB1

GO:1901666

positive regulation of NAD+ ADP-ribosyltransferase activity

22073128

TgeneTGFB1

GO:1902895

positive regulation of pri-miRNA transcription by RNA polymerase II

26311719|26493107

TgeneTGFB1

GO:1903077

negative regulation of protein localization to plasma membrane

21168935

TgeneTGFB1

GO:1903800

positive regulation of production of miRNAs involved in gene silencing by miRNA

18548003

TgeneTGFB1

GO:2000679

positive regulation of transcription regulatory region DNA binding

22073128

TgeneTGFB1

GO:2000727

positive regulation of cardiac muscle cell differentiation

25163461


check button Fusion gene information from three resources
(ChiTars (NAR, 2018), tumorfusions (NAR, 2018), Gao et al. (Cell, 2018))
* 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.
Data typeSourceCancer typeSampleHgeneHchrHbpHstrandTgeneTchrTbpTstrand
TCGALDOVTCGA-09-2051-01ASPIDRchr8

48206619

+TGFB1chr19

41838186

-
* LD: Li Ding group's fusion gene list
  RV: Roel Verhaak group's fusion gene list
  ChiTaRs fusion database

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-shitENST00000297423ENST00000221930SPIDRchr8

48206619

+TGFB1chr19

41838186

-
Frame-shitENST00000518074ENST00000221930SPIDRchr8

48206619

+TGFB1chr19

41838186

-
Frame-shitENST00000541342ENST00000221930SPIDRchr8

48206619

+TGFB1chr19

41838186

-
3UTR-3CDSENST00000521214ENST00000221930SPIDRchr8

48206619

+TGFB1chr19

41838186

-
intron-3CDSENST00000517693ENST00000221930SPIDRchr8

48206619

+TGFB1chr19

41838186

-
intron-3CDSENST00000518060ENST00000221930SPIDRchr8

48206619

+TGFB1chr19

41838186

-

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FusionProtFeatures for SPIDR_TGFB1


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
SPIDR

Q14159

TGFB1

P01137

Plays a role in DNA double-strand break (DBS) repair viahomologous recombination (HR). Serves as a scaffolding proteinthat helps to promote the recruitment of DNA-processing enzymeslike the helicase BLM and recombinase RAD51 to site of DNA damage,and hence contributes to maintain genomic integrity.{ECO:0000269|PubMed:23509288, ECO:0000269|PubMed:23754376}. Multifunctional protein that controls proliferation,differentiation and other functions in many cell types. Many cellssynthesize TGFB1 and have specific receptors for it. It positivelyand negatively regulates many other growth factors. It plays animportant role in bone remodeling as it is a potent stimulator ofosteoblastic bone formation, causing chemotaxis, proliferation anddifferentiation in committed osteoblasts (By similarity).Stimulates sustained production of collagen through the activationof CREB3L1 by regulated intramembrane proteolysis (RIP)(PubMed:25310401). Can promote either T-helper 17 cells (Th17) orregulatory T-cells (Treg) lineage differentiation in aconcentration-dependent manner. At high concentrations, leads toFOXP3-mediated suppression of RORC and down-regulation of IL-17expression, favoring Treg cell development. At low concentrationsin concert with IL-6 and IL-21, leads to expression of the IL-17and IL-23 receptors, favoring differentiation to Th17 cells.Mediates SMAD2/3 activation by inducing its phosphorylation andsubsequent translocation to the nucleus (PubMed:25893292). Caninduce epithelial-to-mesenchymal transition (EMT) and cellmigration in various cell types (PubMed:25893292).{ECO:0000250|UniProtKB:P04202, ECO:0000269|PubMed:25310401,ECO:0000269|PubMed:25893292}.

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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FusionGeneSequence for SPIDR_TGFB1


check button For in-frame fusion transcripts, we provide the fusion transcript sequences and fusion amino acid sequences.
(nt: nucleotides, aa: amino acids)

* Fusion amino acid sequences.

* Fusion transcript sequences (only coding sequence (CDS) region).

* Fusion transcript sequences (Full-length transcript).

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FusionGenePPI for SPIDR_TGFB1


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
SPIDRFOXL1, PLA2G10, TRIM25TGFB1FNTA, VASN, COL2A1, MMP9, MMP2, DCN, BGN, FMOD, TGFBR1, TGFBR3, TGFBR2, VTN, FCN1, ACVRL1, THBS1, YWHAE, PZP, LTBP1, FKBP1A, LAMB1, EPS15, ENG, FBXO6, MEOX2, CCDC33, LAMTOR5, NMT1, NMT2, FEM1B, LAMC1, UBR1, RMND5A, C4orf48, EIF1AX, SLC35G2, AGR3, ANGPTL4, BCAS3, BLID, CCL5, CST6, DIRAS3, GREB1, HOXC6, KLK5, KLK7, KLK9, MTA3, PDLIM2, PSMC3IP, SCGB3A1, SNAI1, ST14, THRSP, PRSS50, WHSC1L1, APP, DAXX, ERP44, LRRC32, DEFA1, NRROS, PLA2G10, TRIM25


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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RelatedDrugs for SPIDR_TGFB1


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.0 2018-04-02)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status
TgeneTGFB1P01137DB00070HyaluronidaseTransforming growth factor beta-1biotechapproved|investigational

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RelatedDiseases for SPIDR_TGFB1


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
TgeneTGFB1C0034069Pulmonary Fibrosis7CTD_human;HPO
TgeneTGFB1C0016059Fibrosis6CTD_human
TgeneTGFB1C0027626Neoplasm Invasiveness5CTD_human
TgeneTGFB1C0011989Camurati-Engelmann Syndrome4CTD_human;HPO;ORPHANET;UNIPROT
TgeneTGFB1C0023893Liver Cirrhosis, Experimental4CTD_human
TgeneTGFB1C0017668Focal glomerulosclerosis3CTD_human
TgeneTGFB1C0022658Kidney Diseases3CTD_human
TgeneTGFB1C0024121Lung Neoplasms3CTD_human
TgeneTGFB1C0027627Neoplasm Metastasis3CTD_human
TgeneTGFB1C0027726Nephrotic Syndrome3CTD_human
TgeneTGFB1C0004096Asthma2CTD_human
TgeneTGFB1C0005138Berylliosis2CTD_human
TgeneTGFB1C0011853Diabetes Mellitus, Experimental2CTD_human
TgeneTGFB1C0011881Diabetic Nephropathy2CTD_human
TgeneTGFB1C0020517Hypersensitivity2CTD_human
TgeneTGFB1C0020538Hypertensive disease2CTD_human
TgeneTGFB1C0021368Inflammation2CTD_human
TgeneTGFB1C0033578Prostatic Neoplasms2CTD_human
TgeneTGFB1C0000786Spontaneous abortion1CTD_human
TgeneTGFB1C0001418Adenocarcinoma1CTD_human
TgeneTGFB1C0003504Aortic Valve Insufficiency1CTD_human
TgeneTGFB1C0005586Bipolar Disorder1PSYGENET
TgeneTGFB1C0006663Calcinosis1CTD_human
TgeneTGFB1C0007137Squamous cell carcinoma1CTD_human
TgeneTGFB1C0007140Carcinosarcoma1CTD_human
TgeneTGFB1C0007621Neoplastic Cell Transformation1CTD_human
TgeneTGFB1C0008925Cleft Palate1CTD_human
TgeneTGFB1C0009404Colorectal Neoplasms1CTD_human
TgeneTGFB1C0011581Depressive disorder1PSYGENET
TgeneTGFB1C0011860Diabetes Mellitus, Non-Insulin-Dependent1CTD_human
TgeneTGFB1C0011882Diabetic Neuropathies1CTD_human
TgeneTGFB1C0013238Dry Eye Syndromes1CTD_human
TgeneTGFB1C0013264Muscular Dystrophy, Duchenne1CTD_human
TgeneTGFB1C0013295Duodenal Ulcer1CTD_human
TgeneTGFB1C0017661IGA Glomerulonephritis1CTD_human
TgeneTGFB1C0019189Hepatitis, Chronic1CTD_human
TgeneTGFB1C0019284Diaphragmatic Hernia1CTD_human
TgeneTGFB1C0020507Hyperplasia1CTD_human
TgeneTGFB1C0022661Kidney Failure, Chronic1CTD_human
TgeneTGFB1C0023890Liver Cirrhosis1CTD_human
TgeneTGFB1C0023891Liver Cirrhosis, Alcoholic1CTD_human
TgeneTGFB1C0024115Lung diseases1CTD_human
TgeneTGFB1C0024117Chronic Obstructive Airway Disease1CTD_human
TgeneTGFB1C0026848Myopathy1CTD_human
TgeneTGFB1C0027051Myocardial Infarction1CTD_human
TgeneTGFB1C0028797Occupational Diseases1CTD_human
TgeneTGFB1C0029172Oral Submucous Fibrosis1CTD_human
TgeneTGFB1C0029456Osteoporosis1CTD_human
TgeneTGFB1C0029458Osteoporosis, Postmenopausal1CTD_human
TgeneTGFB1C0030297Pancreatic Neoplasm1CTD_human
TgeneTGFB1C0030354Papilloma1CTD_human
TgeneTGFB1C0030848Peyronie Disease1CTD_human
TgeneTGFB1C0032226Pleural Diseases1CTD_human
TgeneTGFB1C0032285Pneumonia1CTD_human
TgeneTGFB1C0033687Proteinuria1CTD_human
TgeneTGFB1C0033975Psychotic Disorders1PSYGENET
TgeneTGFB1C0034067Pulmonary Emphysema1CTD_human
TgeneTGFB1C0036202Sarcoidosis1CTD_human
TgeneTGFB1C0036341Schizophrenia1PSYGENET
TgeneTGFB1C0037286Skin Neoplasms1CTD_human
TgeneTGFB1C0038454Cerebrovascular accident1CTD_human
TgeneTGFB1C0040028Thrombocythemia, Essential1CTD_human
TgeneTGFB1C0041948Uremia1CTD_human
TgeneTGFB1C0041956Ureteral obstruction1CTD_human
TgeneTGFB1C0042109Urticaria1CTD_human
TgeneTGFB1C0086132Depressive Symptoms1PSYGENET
TgeneTGFB1C0158266Intervertebral Disc Degeneration1CTD_human
TgeneTGFB1C0241910Hepatitis, Autoimmune1CTD_human
TgeneTGFB1C0242488Acute Lung Injury1CTD_human
TgeneTGFB1C0243026Sepsis1CTD_human
TgeneTGFB1C0264423Asthma, Occupational1CTD_human
TgeneTGFB1C0265287Acromicric Dysplasia1CTD_human
TgeneTGFB1C0349204Nonorganic psychosis1PSYGENET
TgeneTGFB1C0400966Non-alcoholic Fatty Liver Disease1CTD_human
TgeneTGFB1C0455503H/O: depression1PSYGENET
TgeneTGFB1C0521607Peritoneal Fibrosis1CTD_human
TgeneTGFB1C0525045Mood Disorders1PSYGENET
TgeneTGFB1C0553980Endomyocardial Fibrosis1CTD_human
TgeneTGFB1C0600519Ventricular Remodeling1CTD_human
TgeneTGFB1C1876165Copper-Overload Cirrhosis1CTD_human
TgeneTGFB1C2239176Liver carcinoma1CTD_human
TgeneTGFB1C2609414Acute kidney injury1CTD_human