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Center for Computational Systems Medicine level1
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Fusion Gene Summary

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Fusion Gene Sample Information

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Fusion ORF Analysis

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Fusion Amino Acid Sequences

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Fusion Protein Functional Features

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Fusion Protein-Protein Interaction

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Related drugs with this fusion protein

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Related disease with this fusion protein

Fusion Protein:ADAM17-ITGB1BP1

Fusion Protein Summary

check button Fusion gene summary
Fusion partner gene informationFusion gene name: ADAM17-ITGB1BP1
FusionPDB ID: 1977
FusionGDB2.0 ID: 1977
HgeneTgene
Gene symbol

ADAM17

ITGB1BP1

Gene ID

6868

9270

Gene nameADAM metallopeptidase domain 17integrin subunit beta 1 binding protein 1
SynonymsADAM18|CD156B|CSVP|NISBD|NISBD1|TACEICAP-1A|ICAP-1B|ICAP-1alpha|ICAP1|ICAP1A|ICAP1B
Cytomap

2p25.1

2p25.1

Type of geneprotein-codingprotein-coding
Descriptiondisintegrin and metalloproteinase domain-containing protein 17ADAM metallopeptidase domain 18TNF-alpha convertaseTNF-alpha converting enzymesnake venom-like proteasetumor necrosis factor, alpha, converting enzymeintegrin beta-1-binding protein 1bodeninintegrin cytoplasmic domain-associated protein 1integrin cytoplasmic domain-associated protein 1-alphaintegrin cytoplasmic domain-associated protein 1-beta
Modification date2020032020200313
UniProtAcc

P78536

O14713

Ensembl transtripts involved in fusion geneENST idsENST00000310823, ENST00000497134, 
ENST00000238091, ENST00000355346, 
ENST00000359712, ENST00000360635, 
ENST00000456913, ENST00000488451, 
ENST00000490426, 
Fusion gene scores for assessment (based on all fusion genes of FusionGDB 2.0)* DoF score6 X 8 X 6=2884 X 4 X 3=48
# samples 115
** MAII scorelog2(11/288*10)=-1.38856528791765
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(5/48*10)=0.0588936890535686
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
Context (manual curation of fusion genes in FusionPDB)

PubMed: ADAM17 [Title/Abstract] AND ITGB1BP1 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpoint (based on all fusion genes of FusionGDB 2.0)ADAM17(9695638)-ITGB1BP1(9558861), # samples:2
Anticipated loss of major functional domain due to fusion event.ADAM17-ITGB1BP1 seems lost the major protein functional domain in Hgene partner, which is a CGC by not retaining the major functional domain in the partially deleted in-frame ORF.
ADAM17-ITGB1BP1 seems lost the major protein functional domain in Hgene partner, which is a CGC by not retaining the major functional domain in the partially deleted in-frame ORF.
ADAM17-ITGB1BP1 seems lost the major protein functional domain in Hgene partner, which is a essential gene by not retaining the major functional domain in the partially deleted in-frame ORF.
ADAM17-ITGB1BP1 seems lost the major protein functional domain in Hgene partner, which is a essential gene by not retaining the major functional domain in the partially deleted in-frame 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
HgeneADAM17

GO:0001666

response to hypoxia

18276953

HgeneADAM17

GO:0006508

proteolysis

24227843

HgeneADAM17

GO:0006509

membrane protein ectodomain proteolysis

9034190|9574564|17786981|18676862

HgeneADAM17

GO:0007155

cell adhesion

14970227

HgeneADAM17

GO:0007173

epidermal growth factor receptor signaling pathway

12743035

HgeneADAM17

GO:0007220

Notch receptor processing

24226769

HgeneADAM17

GO:0032496

response to lipopolysaccharide

18383040

HgeneADAM17

GO:0033627

cell adhesion mediated by integrin

14970227

HgeneADAM17

GO:0043536

positive regulation of blood vessel endothelial cell migration

24813629

HgeneADAM17

GO:0045741

positive regulation of epidermal growth factor-activated receptor activity

18483258

HgeneADAM17

GO:0051088

PMA-inducible membrane protein ectodomain proteolysis

14625290|15691827|17010968

HgeneADAM17

GO:0071403

cellular response to high density lipoprotein particle stimulus

17786981

HgeneADAM17

GO:1905564

positive regulation of vascular endothelial cell proliferation

24813629

TgeneITGB1BP1

GO:0002043

blood vessel endothelial cell proliferation involved in sprouting angiogenesis

20616313

TgeneITGB1BP1

GO:0006469

negative regulation of protein kinase activity

20616313

TgeneITGB1BP1

GO:0007160

cell-matrix adhesion

9281591

TgeneITGB1BP1

GO:0007229

integrin-mediated signaling pathway

11919189|15703214

TgeneITGB1BP1

GO:0008284

positive regulation of cell proliferation

15703214

TgeneITGB1BP1

GO:0008285

negative regulation of cell proliferation

20616313

TgeneITGB1BP1

GO:0010595

positive regulation of endothelial cell migration

20616313

TgeneITGB1BP1

GO:0032091

negative regulation of protein binding

12473654

TgeneITGB1BP1

GO:0032148

activation of protein kinase B activity

20616313

TgeneITGB1BP1

GO:0035148

tube formation

20616313

TgeneITGB1BP1

GO:0035924

cellular response to vascular endothelial growth factor stimulus

20616313

TgeneITGB1BP1

GO:0043087

regulation of GTPase activity

11807099

TgeneITGB1BP1

GO:0044344

cellular response to fibroblast growth factor stimulus

20616313

TgeneITGB1BP1

GO:0045747

positive regulation of Notch signaling pathway

20616313

TgeneITGB1BP1

GO:0045944

positive regulation of transcription by RNA polymerase II

15703214|20616313

TgeneITGB1BP1

GO:0051895

negative regulation of focal adhesion assembly

12473654

TgeneITGB1BP1

GO:0051897

positive regulation of protein kinase B signaling

20616313

TgeneITGB1BP1

GO:0070373

negative regulation of ERK1 and ERK2 cascade

20616313

TgeneITGB1BP1

GO:0072659

protein localization to plasma membrane

17916086

TgeneITGB1BP1

GO:0090051

negative regulation of cell migration involved in sprouting angiogenesis

20616313

TgeneITGB1BP1

GO:0090315

negative regulation of protein targeting to membrane

11807099

TgeneITGB1BP1

GO:0097746

regulation of blood vessel diameter

20616313

TgeneITGB1BP1

GO:1900025

negative regulation of substrate adhesion-dependent cell spreading

11807099


check buttonFusion gene breakpoints across ADAM17 (5'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.
all structure

check buttonFusion gene breakpoints across ITGB1BP1 (3'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.
all structure


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Fusion Gene Sample Information

check buttonFusion gene information from FusionGDB2.0.
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
ChimerDB4HNSCTCGA-CR-7389-01AADAM17chr2

9695638

-ITGB1BP1chr2

9558861

-
ChimerDB4HNSCTCGA-CR-7389ADAM17chr2

9695638

-ITGB1BP1chr2

9558861

-
ChimerDB4STADTCGA-CD-5813ADAM17chr2

9675962

-ITGB1BP1chr2

9548334

-


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Fusion ORF Analysis


check buttonFusion information from ORFfinder translation from full-length transcript sequence from FusionPDB.
HenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrandSeq length
(transcript)
BP loci
(transcript)
Predicted start
(transcript)
Predicted stop
(transcript)
Seq length
(amino acids)
ENST00000310823ADAM17chr29675962-ENST00000360635ITGB1BP1chr29548334-4307633183947254
ENST00000310823ADAM17chr29675962-ENST00000238091ITGB1BP1chr29548334-1948633183797204
ENST00000310823ADAM17chr29675962-ENST00000355346ITGB1BP1chr29548334-2098633183947254
ENST00000497134ADAM17chr29675962-ENST00000360635ITGB1BP1chr29548334-4311637187951254
ENST00000497134ADAM17chr29675962-ENST00000238091ITGB1BP1chr29548334-1952637187801204
ENST00000497134ADAM17chr29675962-ENST00000355346ITGB1BP1chr29548334-2102637187951254

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
ENST00000310823ENST00000360635ADAM17chr29675962-ITGB1BP1chr29548334-0.000507110.9994929
ENST00000310823ENST00000238091ADAM17chr29675962-ITGB1BP1chr29548334-0.0026391420.9973609
ENST00000310823ENST00000355346ADAM17chr29675962-ITGB1BP1chr29548334-0.0020941490.99790585
ENST00000497134ENST00000360635ADAM17chr29675962-ITGB1BP1chr29548334-0.0005070270.999493
ENST00000497134ENST00000238091ADAM17chr29675962-ITGB1BP1chr29548334-0.0022786360.9977214
ENST00000497134ENST00000355346ADAM17chr29675962-ITGB1BP1chr29548334-0.0017382990.99826175

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Fusion Amino Acid Sequences


check button For individual full-length fusion transcript sequence from FusionPDB, we ran ORFfinder and chose the longest ORF among the all predicted ones.
>FusionGDB ID_FusionGDB isoform ID_FGname_Hgene_Hchr_Hbp_Henst_Tgene_Tchr_Tbp_Tenst_length(fusion AA) seq_BP

>1977_1977_1_ADAM17-ITGB1BP1_ADAM17_chr2_9675962_ENST00000310823_ITGB1BP1_chr2_9548334_ENST00000238091_length(amino acids)=204AA_BP=0
MRQSLLFLTSVVPFVLAPRPPDDPGFGPHQRLEKLDSLLSDYDILSLSNIQQHSVRKRDLQTSTHVETLLTFSALKRHFKLYLTSSTERF
SQNFKVVVVDGKNESEYTVKWQDFFTGHVVGEPDSRVLAHIRDDDVIIRINTDGAEYNIEQDGKLPFVPPEEEFIMGVSKYGIKVSTSDQ

--------------------------------------------------------------

>1977_1977_2_ADAM17-ITGB1BP1_ADAM17_chr2_9675962_ENST00000310823_ITGB1BP1_chr2_9548334_ENST00000355346_length(amino acids)=254AA_BP=0
MRQSLLFLTSVVPFVLAPRPPDDPGFGPHQRLEKLDSLLSDYDILSLSNIQQHSVRKRDLQTSTHVETLLTFSALKRHFKLYLTSSTERF
SQNFKVVVVDGKNESEYTVKWQDFFTGHVVGEPDSRVLAHIRDDDVIIRINTDGAEYNIEQDGKLPFVPPEEEFIMGVSKYGIKVSTSDQ

--------------------------------------------------------------

>1977_1977_3_ADAM17-ITGB1BP1_ADAM17_chr2_9675962_ENST00000310823_ITGB1BP1_chr2_9548334_ENST00000360635_length(amino acids)=254AA_BP=0
MRQSLLFLTSVVPFVLAPRPPDDPGFGPHQRLEKLDSLLSDYDILSLSNIQQHSVRKRDLQTSTHVETLLTFSALKRHFKLYLTSSTERF
SQNFKVVVVDGKNESEYTVKWQDFFTGHVVGEPDSRVLAHIRDDDVIIRINTDGAEYNIEQDGKLPFVPPEEEFIMGVSKYGIKVSTSDQ

--------------------------------------------------------------

>1977_1977_4_ADAM17-ITGB1BP1_ADAM17_chr2_9675962_ENST00000497134_ITGB1BP1_chr2_9548334_ENST00000238091_length(amino acids)=204AA_BP=0
MRQSLLFLTSVVPFVLAPRPPDDPGFGPHQRLEKLDSLLSDYDILSLSNIQQHSVRKRDLQTSTHVETLLTFSALKRHFKLYLTSSTERF
SQNFKVVVVDGKNESEYTVKWQDFFTGHVVGEPDSRVLAHIRDDDVIIRINTDGAEYNIEQDGKLPFVPPEEEFIMGVSKYGIKVSTSDQ

--------------------------------------------------------------

>1977_1977_5_ADAM17-ITGB1BP1_ADAM17_chr2_9675962_ENST00000497134_ITGB1BP1_chr2_9548334_ENST00000355346_length(amino acids)=254AA_BP=0
MRQSLLFLTSVVPFVLAPRPPDDPGFGPHQRLEKLDSLLSDYDILSLSNIQQHSVRKRDLQTSTHVETLLTFSALKRHFKLYLTSSTERF
SQNFKVVVVDGKNESEYTVKWQDFFTGHVVGEPDSRVLAHIRDDDVIIRINTDGAEYNIEQDGKLPFVPPEEEFIMGVSKYGIKVSTSDQ

--------------------------------------------------------------

>1977_1977_6_ADAM17-ITGB1BP1_ADAM17_chr2_9675962_ENST00000497134_ITGB1BP1_chr2_9548334_ENST00000360635_length(amino acids)=254AA_BP=0
MRQSLLFLTSVVPFVLAPRPPDDPGFGPHQRLEKLDSLLSDYDILSLSNIQQHSVRKRDLQTSTHVETLLTFSALKRHFKLYLTSSTERF
SQNFKVVVVDGKNESEYTVKWQDFFTGHVVGEPDSRVLAHIRDDDVIIRINTDGAEYNIEQDGKLPFVPPEEEFIMGVSKYGIKVSTSDQ

--------------------------------------------------------------

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Fusion Protein Functional Features


check button Four levels of functional features of fusion genes
Go to FGviewer search page for the most frequent breakpoint (https://ccsmweb.uth.edu/FGviewer/chr2:9695638/chr2:9558861)
- FGviewer provides the online visualization of the retention search of the protein functional features across DNA, RNA, protein, and pathological levels.
- How to search
1. Put your fusion gene symbol.
2. Press the tab key until there will be shown the breakpoint information filled.
4. Go down and press 'Search' tab twice.
4. Go down to have the hyperlink of the search result.
5. Click the hyperlink.
6. See the FGviewer result for your fusion gene.
FGviewer

check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
ADAM17

P78536

ITGB1BP1

O14713

FUNCTION: Cleaves the membrane-bound precursor of TNF-alpha to its mature soluble form (PubMed:9034191). Responsible for the proteolytical release of soluble JAM3 from endothelial cells surface (PubMed:20592283). Responsible for the proteolytic release of several other cell-surface proteins, including p75 TNF-receptor, interleukin 1 receptor type II, p55 TNF-receptor, transforming growth factor-alpha, L-selectin, growth hormone receptor, MUC1 and the amyloid precursor protein (PubMed:12441351). Acts as an activator of Notch pathway by mediating cleavage of Notch, generating the membrane-associated intermediate fragment called Notch extracellular truncation (NEXT) (PubMed:24226769). Plays a role in the proteolytic processing of ACE2 (PubMed:24227843). Plays a role in hemostasis through shedding of GP1BA, the platelet glycoprotein Ib alpha chain (By similarity). Mediates the proteolytic cleavage of LAG3, leading to release the secreted form of LAG3 (By similarity). Mediates the proteolytic cleavage of IL6R, leading to the release of secreted form of IL6R (PubMed:26876177, PubMed:28060820). {ECO:0000250|UniProtKB:Q9Z0F8, ECO:0000269|PubMed:12441351, ECO:0000269|PubMed:20592283, ECO:0000269|PubMed:24226769, ECO:0000269|PubMed:24227843, ECO:0000269|PubMed:26876177, ECO:0000269|PubMed:28060820, ECO:0000269|PubMed:9034191}.FUNCTION: Key regulator of the integrin-mediated cell-matrix interaction signaling by binding to the ITGB1 cytoplasmic tail and preventing the activation of integrin alpha-5/beta-1 (heterodimer of ITGA5 and ITGB1) by talin or FERMT1. Plays a role in cell proliferation, differentiation, spreading, adhesion and migration in the context of mineralization and bone development and angiogenesis. Stimulates cellular proliferation in a fibronectin-dependent manner. Involved in the regulation of beta-1 integrin-containing focal adhesion (FA) site dynamics by controlling its assembly rate during cell adhesion; inhibits beta-1 integrin clustering within FA by directly competing with talin TLN1, and hence stimulates osteoblast spreading and migration in a fibronectin- and/or collagen-dependent manner. Acts as a guanine nucleotide dissociation inhibitor (GDI) by regulating Rho family GTPases during integrin-mediated cell matrix adhesion; reduces the level of active GTP-bound form of both CDC42 and RAC1 GTPases upon cell adhesion to fibronectin. Stimulates the release of active CDC42 from the membranes to maintain it in an inactive cytoplasmic pool. Participates in the translocation of the Rho-associated protein kinase ROCK1 to membrane ruffles at cell leading edges of the cell membrane, leading to an increase of myoblast cell migration on laminin. Plays a role in bone mineralization at a late stage of osteoblast differentiation; modulates the dynamic formation of focal adhesions into fibrillar adhesions, which are adhesive structures responsible for fibronectin deposition and fibrillogenesis. Plays a role in blood vessel development; acts as a negative regulator of angiogenesis by attenuating endothelial cell proliferation and migration, lumen formation and sprouting angiogenesis by promoting AKT phosphorylation and inhibiting ERK1/2 phosphorylation through activation of the Notch signaling pathway. Promotes transcriptional activity of the MYC promoter. {ECO:0000269|PubMed:11741838, ECO:0000269|PubMed:11807099, ECO:0000269|PubMed:11919189, ECO:0000269|PubMed:12473654, ECO:0000269|PubMed:15703214, ECO:0000269|PubMed:17916086, ECO:0000269|PubMed:20616313, ECO:0000269|PubMed:21768292, ECO:0000269|Ref.19}.

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.
- Retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgeneADAM17chr2:9675962chr2:9548334ENST00000310823-41996_99150.0825.0Compositional biasNote=Poly-Val

- Not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgeneADAM17chr2:9675962chr2:9548334ENST00000310823-419564_602150.0825.0Compositional biasNote=Cys-rich
HgeneADAM17chr2:9675962chr2:9548334ENST00000310823-419223_474150.0825.0DomainPeptidase M12B
HgeneADAM17chr2:9675962chr2:9548334ENST00000310823-419475_563150.0825.0DomainDisintegrin
HgeneADAM17chr2:9675962chr2:9548334ENST00000310823-419182_189150.0825.0MotifCysteine switch
HgeneADAM17chr2:9675962chr2:9548334ENST00000310823-419731_738150.0825.0MotifSH3-binding
HgeneADAM17chr2:9675962chr2:9548334ENST00000310823-419741_748150.0825.0MotifSH3-binding
HgeneADAM17chr2:9675962chr2:9548334ENST00000310823-419603_671150.0825.0RegionNote=Crambin-like
HgeneADAM17chr2:9675962chr2:9548334ENST00000310823-419215_671150.0825.0Topological domainExtracellular
HgeneADAM17chr2:9675962chr2:9548334ENST00000310823-419693_824150.0825.0Topological domainCytoplasmic
HgeneADAM17chr2:9675962chr2:9548334ENST00000310823-419672_692150.0825.0TransmembraneHelical
TgeneITGB1BP1chr2:9675962chr2:9548334ENST000002380913610_5796.0151.0Compositional biasNote=Ser/Thr-rich
TgeneITGB1BP1chr2:9675962chr2:9548334ENST000003553463710_5796.0201.0Compositional biasNote=Ser/Thr-rich
TgeneITGB1BP1chr2:9675962chr2:9548334ENST000003606354810_5796.0201.0Compositional biasNote=Ser/Thr-rich
TgeneITGB1BP1chr2:9675962chr2:9548334ENST000004884514710_5796.0151.0Compositional biasNote=Ser/Thr-rich
TgeneITGB1BP1chr2:9675962chr2:9548334ENST000002380913658_20096.0151.0DomainNote=PID
TgeneITGB1BP1chr2:9675962chr2:9548334ENST000003553463758_20096.0201.0DomainNote=PID
TgeneITGB1BP1chr2:9675962chr2:9548334ENST000003606354858_20096.0201.0DomainNote=PID
TgeneITGB1BP1chr2:9675962chr2:9548334ENST000004884514758_20096.0151.0DomainNote=PID


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Fusion Protein-Protein Interaction


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 from validated records (BIOGRID-3.4.160)
GenePPI interactors


check button Protein-protein interactors based on sequence similarity (STRING)
GeneSTRING network
ADAM17
ITGB1BP1


check button - Retained interactions in fusion protein (protein functional feature from UniProt).
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenStill interaction with


check button - Lost interactions due to fusion (protein functional feature from UniProt).
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenInteraction lost with


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Related Drugs to ADAM17-ITGB1BP1


check button Drugs used for this fusion-positive patient.
(Manual curation of PubMed, 04-30-2022 + MyCancerGenome)
HgeneTgeneDrugSourcePMID

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Related Diseases to ADAM17-ITGB1BP1


check button Diseases that have this fusion gene.
(Manual curation of PubMed, 04-30-2022 + MyCancerGenome)
HgeneTgeneDiseaseSourcePMID

check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource