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	Fusion Gene Summary
	Fusion Gene Sample Information
	Fusion ORF Analysis
	Fusion Amino Acid Sequences
	Fusion Protein Functional Features
	Fusion Protein Structure
	pLDDT scores
	Ramachandran Plot of Fusion Protein Structure
	Fusion Protein-Protein Interaction
	Related drugs with this fusion protein
	Related disease with this fusion protein

Fusion Protein:ATF7IP-PDGFRB

Fusion Protein Summary

Fusion gene summary

Fusion partner gene information	Fusion gene name: ATF7IP-PDGFRB
	FusionPDB ID: 7486
	FusionGDB2.0 ID: 7486
		Hgene	Tgene
	Gene symbol	ATF7IP	PDGFRB
	Gene ID	55729	5159
	Gene name	activating transcription factor 7 interacting protein	platelet derived growth factor receptor beta
	Synonyms	AM\|ATF-IP\|MCAF\|MCAF1\|p621	CD140B\|IBGC4\|IMF1\|JTK12\|KOGS\|PDGFR\|PDGFR-1\|PDGFR1\|PENTT
	Cytomap	12p13.1	5q32
	Type of gene	protein-coding	protein-coding
	Description	activating transcription factor 7-interacting protein 1ATF-interacting proteinATF7-interacting proteinATFa-associated modulatorMBD1-containing chromatin-associated factor 1	platelet-derived growth factor receptor betaActivated tyrosine kinase PDGFRBCD140 antigen-like family member BNDEL1-PDGFRBPDGF-R-betaPDGFR-betabeta-type platelet-derived growth factor receptorplatelet-derived growth factor receptor 1platelet-deriv
	Modification date	20200313	20200329
	UniProtAcc	Q5U623	P09619
Ensembl transtripts involved in fusion gene	ENST ids	ENST00000261168, ENST00000536444, ENST00000540793, ENST00000543189, ENST00000544627, ENST00000541654,	ENST00000523456, ENST00000261799,
Fusion gene scores for assessment (based on all fusion genes of FusionGDB 2.0)	* DoF score	16 X 15 X 8=1920	28 X 26 X 6=4368
	# samples	20	15
	** MAII score	log2(20/1920*10)=-3.26303440583379 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0	log2(15/4368*10)=-4.86393845042397 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0
Context (manual curation of fusion genes in FusionPDB)	PubMed: ATF7IP [Title/Abstract] AND PDGFRB [Title/Abstract] AND fusion [Title/Abstract]
Most frequent breakpoint (based on all fusion genes of FusionGDB 2.0)	ATF7IP(14634119)-PDGFRB(149506177), # samples:2
Anticipated loss of major functional domain due to fusion event.	ATF7IP-PDGFRB 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. ATF7IP-PDGFRB 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. ATF7IP-PDGFRB 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. ATF7IP-PDGFRB 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. ATF7IP-PDGFRB seems lost the major protein functional domain in Hgene partner, which is a epigenetic factor due to the frame-shifted ORF. ATF7IP-PDGFRB seems lost the major protein functional domain in Hgene partner, which is a essential gene due to the frame-shifted ORF. ATF7IP-PDGFRB seems lost the major protein functional domain in Tgene partner, which is a CGC due to the frame-shifted ORF. ATF7IP-PDGFRB seems lost the major protein functional domain in Tgene partner, which is a IUPHAR drug target due to the frame-shifted ORF. ATF7IP-PDGFRB seems lost the major protein functional domain in Tgene partner, which is a kinase 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)

Gene ontology of each fusion partner gene with evidence of Inferred from Direct Assay (IDA) from Entrez

Partner	Gene	GO ID	GO term	PubMed ID
Hgene	ATF7IP	GO:0006306	DNA methylation	12665582
Hgene	ATF7IP	GO:0045892	negative regulation of transcription, DNA-templated	12665582
Hgene	ATF7IP	GO:0045893	positive regulation of transcription, DNA-templated	12665582
Hgene	ATF7IP	GO:0045898	regulation of RNA polymerase II transcriptional preinitiation complex assembly	12665582
Tgene	PDGFRB	GO:0007165	signal transduction	10821867
Tgene	PDGFRB	GO:0010863	positive regulation of phospholipase C activity	1653029
Tgene	PDGFRB	GO:0018108	peptidyl-tyrosine phosphorylation	1653029\|2536956\|2850496
Tgene	PDGFRB	GO:0030335	positive regulation of cell migration	17470632
Tgene	PDGFRB	GO:0032516	positive regulation of phosphoprotein phosphatase activity	7691811
Tgene	PDGFRB	GO:0038091	positive regulation of cell proliferation by VEGF-activated platelet derived growth factor receptor signaling pathway	17470632
Tgene	PDGFRB	GO:0043552	positive regulation of phosphatidylinositol 3-kinase activity	1314164
Tgene	PDGFRB	GO:0046777	protein autophosphorylation	1314164\|2536956\|2850496
Tgene	PDGFRB	GO:0048008	platelet-derived growth factor receptor signaling pathway	1314164\|2536956
Tgene	PDGFRB	GO:0060326	cell chemotaxis	2554309\|17991872

Fusion gene breakpoints across ATF7IP (5'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.

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

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Fusion Gene Sample Information

Fusion gene information from FusionGDB2.0.

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.

Source	Disease	Sample	Hgene	Hchr	Hbp	Hstrand	Tgene	Tchr	Tbp	Tstrand
ChimerKB4	.	.	ATF7IP	chr12	14613428	+	PDGFRB	chr5	14613428	-
ChimerKB4	.	.	ATF7IP	chr12	14633936	+	PDGFRB	chr5	14633936	-
ChiTaRS5.0	N/A	HZ039234	ATF7IP	chr12	14634119	+	PDGFRB	chr5	149506177	-
ChiTaRS5.0	N/A	HZ039235	ATF7IP	chr12	14634119	+	PDGFRB	chr5	149506177	-

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Fusion ORF Analysis

Fusion information from ORFfinder translation from full-length transcript sequence from FusionPDB.

Henst	Tenst	Hgene	Hchr	Hbp	Hstrand	Tgene	Tchr	Tbp	Tstrand	Seq length (transcript)	BP loci (transcript)	Predicted start (transcript)	Predicted stop (transcript)	Seq length (amino acids)
ENST00000261168	ATF7IP	chr12	14634119	+	ENST00000261799	PDGFRB	chr5	149506177	-	7101	3433	153	5174	1673
ENST00000536444	ATF7IP	chr12	14634119	+	ENST00000261799	PDGFRB	chr5	149506177	-	7051	3383	106	5124	1672
ENST00000544627	ATF7IP	chr12	14634119	+	ENST00000261799	PDGFRB	chr5	149506177	-	7292	3624	320	5365	1681
ENST00000540793	ATF7IP	chr12	14634119	+	ENST00000261799	PDGFRB	chr5	149506177	-	7103	3435	155	5176	1673

DeepORF 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.

Henst	Tenst	Hgene	Hchr	Hbp	Hstrand	Tgene	Tchr	Tbp	Tstrand	No-coding score	Coding score
ENST00000261168	ENST00000261799	ATF7IP	chr12	14634119	+	PDGFRB	chr5	149506177	-	0.001302262	0.99869776
ENST00000536444	ENST00000261799	ATF7IP	chr12	14634119	+	PDGFRB	chr5	149506177	-	0.001150028	0.99885
ENST00000544627	ENST00000261799	ATF7IP	chr12	14634119	+	PDGFRB	chr5	149506177	-	0.001398285	0.99860173
ENST00000540793	ENST00000261799	ATF7IP	chr12	14634119	+	PDGFRB	chr5	149506177	-	0.001135758	0.9988643

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Fusion Amino Acid Sequences

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

>7486_7486_1_ATF7IP-PDGFRB_ATF7IP_chr12_14634119_ENST00000261168_PDGFRB_chr5_149506177_ENST00000261799_length(amino acids)=1673AA_BP=1094
MDSLEEPQKKVFKARKTMRVSDRQQLEAVYKVKEELLKTDVKLLNGNHENGDLDPTSPLENMDYIKDKEEVNGIEEICFDPEGSKAEWKE
TPCILSVNVKNKQDDDLNCEPLSPHNITPEPVSKLPAEPVSGDPAPGDLDAGDPASGVLASGDSTSGDPTSSEPSSSDAASGDATSGDAP
SGDVSPGDATSGDATADDLSSGDPTSSDPIPGEPVPVEPISGDCAADDIASSEITSVDLASGAPASTDPASDDLASGDLSSSELASDDLA
TGELASDELTSESTFDRTFEPKSVPVCEPVPEIDNIEPSSNKDDDFLEKNGADEKLEQIQSKDSLDEKNKADNNIDANEETLETDDTTIC
SDRPPENEKKVEEDIITELALGEDAISSSMEIDQGEKNEDETSADLVETINENVIEDNKSENILENTDSMETDEIIPILEKLAPSEDELT
CFSKTSLLPIDETNPDLEEKMESSFGSPSKQESSESLPKEAFLVLSDEEDISGEKDESEVISQNETCSPAEVESNEKDNKPEEEEQVIHE
DDERPSEKNEFSRRKRSKSEDMDNVQSKRRRYMEEEYEAEFQVKITAKGDINQKLQKVIQWLLEEKLCALQCAVFDKTLAELKTRVEKIE
CNKRHKTVLTELQAKIARLTKRFEAAKEDLKKRHEHPPNPPVSPGKTVNDVNSNNNMSYRNAGTVRQMLESKRNVSESAPPSFQTPVNTV
SSTNLVTPPAVVSSQPKLQTPVTSGSLTATSVLPAPNTATVVATTQVPSGNPQPTISLQPLPVILHVPVAVSSQPQLLQSHPGTLVTNQP
SGNVEFISVQSPPTVSGLTKNPVSLPSLPNPTKPNNVPSVPSPSIQRNPTASAAPLGTTLAVQAVPTAHSIVQATRTSLPTVGPSGLYSP
STNRGPIQMKIPISAFSTSSAAEQNSNTTPRIENQTNKTIDASVSKKAADSTSQCGKATGSDSSGVIDLTMDDEESGASQDPKKLNHTPV
STMSSSQPVSRPLQPIQPAPPLQPSGVPTSGPSQTTIHLLPTAPTTVNVTHRPVTQVTTRLPVPRAPANHQVVYTTLPAPPAQAPLRGTV
MQAPAVRQVNPQNTLPFKVVVISAILALVVLTIISLIILIMLWQKKPRYEIRWKVIESVSSDGHEYIYVDPMQLPYDSTWELPRDQLVLG
RTLGSGAFGQVVEATAHGLSHSQATMKVAVKMLKSTARSSEKQALMSELKIMSHLGPHLNVVNLLGACTKGGPIYIITEYCRYGDLVDYL
HRNKHTFLQHHSDKRRPPSAELYSNALPVGLPLPSHVSLTGESDGGYMDMSKDESVDYVPMLDMKGDVKYADIESSNYMAPYDNYVPSAP
ERTCRATLINESPVLSYMDLVGFSYQVANGMEFLASKNCVHRDLAARNVLICEGKLVKICDFGLARDIMRDSNYISKGSTFLPLKWMAPE
SIFNSLYTTLSDVWSFGILLWEIFTLGGTPYPELPMNEQFYNAIKRGYRMAQPAHASDEIYEIMQKCWEEKFEIRPPFSQLVLLLERLLG
EGYKKKYQQVDEEFLRSDHPAILRSQARLPGFHGLRSPLDTSSVLYTAVQPNEGDNDYIIPLPDPKPEVADEGPLEGSPSLASSTLNEVN

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

>7486_7486_2_ATF7IP-PDGFRB_ATF7IP_chr12_14634119_ENST00000536444_PDGFRB_chr5_149506177_ENST00000261799_length(amino acids)=1672AA_BP=1093
MDSLEEPQKKVFKARKTMRVSDRQQLEAVYKVKEELLKTDVKLLNGNHENGDLDPTSPLENMDYIKDKEEVNGIEEICFDPEGSKAEWKE
TPCILSVNVKNKQDDDLNCEPLSPHNITPEPVSKLPAEPVSGDPAPGDLDAGDPASGVLASGDSTSGDPTSSEPSSSDAASGDATSGDAP
SGDVSPGDATSGDATADDLSSGDPTSSDPIPGEPVPVEPISGDCAADDIASSEITSVDLASGAPASTDPASDDLASGDLSSSELASDDLA
TGELASDELTSESTFDRTFEPKSVPVCEPVPEIDNIEPSSNKDDDFLEKNGADEKLEQIQSKDSLDEKNKADNNIDANEETLETDDTTIC
SDRPPENEKKVEEDIITELALGEDAISSSMEIDQGEKNEDETSADLVETINENVIEDNKSENILENTDSMETDEIIPILEKLAPSEDELT
CFSKTSLLPIDETNPDLEEKMESSFGSPSKQESSESLPKEAFLVLSDEEDISGEKDESEVISQNETCSPEVESNEKDNKPEEEEQVIHED
DERPSEKNEFSRRKRSKSEDMDNVQSKRRRYMEEEYEAEFQVKITAKGDINQKLQKVIQWLLEEKLCALQCAVFDKTLAELKTRVEKIEC
NKRHKTVLTELQAKIARLTKRFEAAKEDLKKRHEHPPNPPVSPGKTVNDVNSNNNMSYRNAGTVRQMLESKRNVSESAPPSFQTPVNTVS
STNLVTPPAVVSSQPKLQTPVTSGSLTATSVLPAPNTATVVATTQVPSGNPQPTISLQPLPVILHVPVAVSSQPQLLQSHPGTLVTNQPS
GNVEFISVQSPPTVSGLTKNPVSLPSLPNPTKPNNVPSVPSPSIQRNPTASAAPLGTTLAVQAVPTAHSIVQATRTSLPTVGPSGLYSPS
TNRGPIQMKIPISAFSTSSAAEQNSNTTPRIENQTNKTIDASVSKKAADSTSQCGKATGSDSSGVIDLTMDDEESGASQDPKKLNHTPVS
TMSSSQPVSRPLQPIQPAPPLQPSGVPTSGPSQTTIHLLPTAPTTVNVTHRPVTQVTTRLPVPRAPANHQVVYTTLPAPPAQAPLRGTVM
QAPAVRQVNPQNTLPFKVVVISAILALVVLTIISLIILIMLWQKKPRYEIRWKVIESVSSDGHEYIYVDPMQLPYDSTWELPRDQLVLGR
TLGSGAFGQVVEATAHGLSHSQATMKVAVKMLKSTARSSEKQALMSELKIMSHLGPHLNVVNLLGACTKGGPIYIITEYCRYGDLVDYLH
RNKHTFLQHHSDKRRPPSAELYSNALPVGLPLPSHVSLTGESDGGYMDMSKDESVDYVPMLDMKGDVKYADIESSNYMAPYDNYVPSAPE
RTCRATLINESPVLSYMDLVGFSYQVANGMEFLASKNCVHRDLAARNVLICEGKLVKICDFGLARDIMRDSNYISKGSTFLPLKWMAPES
IFNSLYTTLSDVWSFGILLWEIFTLGGTPYPELPMNEQFYNAIKRGYRMAQPAHASDEIYEIMQKCWEEKFEIRPPFSQLVLLLERLLGE
GYKKKYQQVDEEFLRSDHPAILRSQARLPGFHGLRSPLDTSSVLYTAVQPNEGDNDYIIPLPDPKPEVADEGPLEGSPSLASSTLNEVNT

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

>7486_7486_3_ATF7IP-PDGFRB_ATF7IP_chr12_14634119_ENST00000540793_PDGFRB_chr5_149506177_ENST00000261799_length(amino acids)=1673AA_BP=1094
MDSLEEPQKKVFKARKTMRVSDRQQLEAVYKVKEELLKTDVKLLNGNHENGDLDPTSPLENMDYIKDKEEVNGIEEICFDPEGSKAEWKE
TPCILSVNVKNKQDDDLNCEPLSPHNITPEPVSKLPAEPVSGDPAPGDLDAGDPASGVLASGDSTSGDPTSSEPSSSDAASGDATSGDAP
SGDVSPGDATSGDATADDLSSGDPTSSDPIPGEPVPVEPISGDCAADDIASSEITSVDLASGAPASTDPASDDLASGDLSSSELASDDLA
TGELASDELTSESTFDRTFEPKSVPVCEPVPEIDNIEPSSNKDDDFLEKNGADEKLEQIQSKDSLDEKNKADNNIDANEETLETDDTTIC
SDRPPENEKKVEEDIITELALGEDAISSSMEIDQGEKNEDETSADLVETINENVIEDNKSENILENTDSMETDEIIPILEKLAPSEDELT
CFSKTSLLPIDETNPDLEEKMESSFGSPSKQESSESLPKEAFLVLSDEEDISGEKDESEVISQNETCSPAEVESNEKDNKPEEEEQVIHE
DDERPSEKNEFSRRKRSKSEDMDNVQSKRRRYMEEEYEAEFQVKITAKGDINQKLQKVIQWLLEEKLCALQCAVFDKTLAELKTRVEKIE
CNKRHKTVLTELQAKIARLTKRFEAAKEDLKKRHEHPPNPPVSPGKTVNDVNSNNNMSYRNAGTVRQMLESKRNVSESAPPSFQTPVNTV
SSTNLVTPPAVVSSQPKLQTPVTSGSLTATSVLPAPNTATVVATTQVPSGNPQPTISLQPLPVILHVPVAVSSQPQLLQSHPGTLVTNQP
SGNVEFISVQSPPTVSGLTKNPVSLPSLPNPTKPNNVPSVPSPSIQRNPTASAAPLGTTLAVQAVPTAHSIVQATRTSLPTVGPSGLYSP
STNRGPIQMKIPISAFSTSSAAEQNSNTTPRIENQTNKTIDASVSKKAADSTSQCGKATGSDSSGVIDLTMDDEESGASQDPKKLNHTPV
STMSSSQPVSRPLQPIQPAPPLQPSGVPTSGPSQTTIHLLPTAPTTVNVTHRPVTQVTTRLPVPRAPANHQVVYTTLPAPPAQAPLRGTV
MQAPAVRQVNPQNTLPFKVVVISAILALVVLTIISLIILIMLWQKKPRYEIRWKVIESVSSDGHEYIYVDPMQLPYDSTWELPRDQLVLG
RTLGSGAFGQVVEATAHGLSHSQATMKVAVKMLKSTARSSEKQALMSELKIMSHLGPHLNVVNLLGACTKGGPIYIITEYCRYGDLVDYL
HRNKHTFLQHHSDKRRPPSAELYSNALPVGLPLPSHVSLTGESDGGYMDMSKDESVDYVPMLDMKGDVKYADIESSNYMAPYDNYVPSAP
ERTCRATLINESPVLSYMDLVGFSYQVANGMEFLASKNCVHRDLAARNVLICEGKLVKICDFGLARDIMRDSNYISKGSTFLPLKWMAPE
SIFNSLYTTLSDVWSFGILLWEIFTLGGTPYPELPMNEQFYNAIKRGYRMAQPAHASDEIYEIMQKCWEEKFEIRPPFSQLVLLLERLLG
EGYKKKYQQVDEEFLRSDHPAILRSQARLPGFHGLRSPLDTSSVLYTAVQPNEGDNDYIIPLPDPKPEVADEGPLEGSPSLASSTLNEVN

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

>7486_7486_4_ATF7IP-PDGFRB_ATF7IP_chr12_14634119_ENST00000544627_PDGFRB_chr5_149506177_ENST00000261799_length(amino acids)=1681AA_BP=1102
MHQDQRFRMDSLEEPQKKVFKARKTMRVSDRQQLEAVYKVKEELLKTDVKLLNGNHENGDLDPTSPLENMDYIKDKEEVNGIEEICFDPE
GSKAEWKETPCILSVNVKNKQDDDLNCEPLSPHNITPEPVSKLPAEPVSGDPAPGDLDAGDPASGVLASGDSTSGDPTSSEPSSSDAASG
DATSGDAPSGDVSPGDATSGDATADDLSSGDPTSSDPIPGEPVPVEPISGDCAADDIASSEITSVDLASGAPASTDPASDDLASGDLSSS
ELASDDLATGELASDELTSESTFDRTFEPKSVPVCEPVPEIDNIEPSSNKDDDFLEKNGADEKLEQIQSKDSLDEKNKADNNIDANEETL
ETDDTTICSDRPPENEKKVEEDIITELALGEDAISSSMEIDQGEKNEDETSADLVETINENVIEDNKSENILENTDSMETDEIIPILEKL
APSEDELTCFSKTSLLPIDETNPDLEEKMESSFGSPSKQESSESLPKEAFLVLSDEEDISGEKDESEVISQNETCSPAEVESNEKDNKPE
EEEQVIHEDDERPSEKNEFSRRKRSKSEDMDNVQSKRRRYMEEEYEAEFQVKITAKGDINQKLQKVIQWLLEEKLCALQCAVFDKTLAEL
KTRVEKIECNKRHKTVLTELQAKIARLTKRFEAAKEDLKKRHEHPPNPPVSPGKTVNDVNSNNNMSYRNAGTVRQMLESKRNVSESAPPS
FQTPVNTVSSTNLVTPPAVVSSQPKLQTPVTSGSLTATSVLPAPNTATVVATTQVPSGNPQPTISLQPLPVILHVPVAVSSQPQLLQSHP
GTLVTNQPSGNVEFISVQSPPTVSGLTKNPVSLPSLPNPTKPNNVPSVPSPSIQRNPTASAAPLGTTLAVQAVPTAHSIVQATRTSLPTV
GPSGLYSPSTNRGPIQMKIPISAFSTSSAAEQNSNTTPRIENQTNKTIDASVSKKAADSTSQCGKATGSDSSGVIDLTMDDEESGASQDP
KKLNHTPVSTMSSSQPVSRPLQPIQPAPPLQPSGVPTSGPSQTTIHLLPTAPTTVNVTHRPVTQVTTRLPVPRAPANHQVVYTTLPAPPA
QAPLRGTVMQAPAVRQVNPQNTLPFKVVVISAILALVVLTIISLIILIMLWQKKPRYEIRWKVIESVSSDGHEYIYVDPMQLPYDSTWEL
PRDQLVLGRTLGSGAFGQVVEATAHGLSHSQATMKVAVKMLKSTARSSEKQALMSELKIMSHLGPHLNVVNLLGACTKGGPIYIITEYCR
YGDLVDYLHRNKHTFLQHHSDKRRPPSAELYSNALPVGLPLPSHVSLTGESDGGYMDMSKDESVDYVPMLDMKGDVKYADIESSNYMAPY
DNYVPSAPERTCRATLINESPVLSYMDLVGFSYQVANGMEFLASKNCVHRDLAARNVLICEGKLVKICDFGLARDIMRDSNYISKGSTFL
PLKWMAPESIFNSLYTTLSDVWSFGILLWEIFTLGGTPYPELPMNEQFYNAIKRGYRMAQPAHASDEIYEIMQKCWEEKFEIRPPFSQLV
LLLERLLGEGYKKKYQQVDEEFLRSDHPAILRSQARLPGFHGLRSPLDTSSVLYTAVQPNEGDNDYIIPLPDPKPEVADEGPLEGSPSLA

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

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Fusion Protein Functional Features

Four levels of functional features of fusion genes
Go to FGviewer search page for the most frequent breakpoint (https://ccsmweb.uth.edu/FGviewer/chr12:14634119/chr5:149506177)
- 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.

Main function of each fusion partner protein. (from UniProt)

Hgene	Tgene
ATF7IP Q5U623	PDGFRB P09619
FUNCTION: Recruiter that couples transcriptional factors to general transcription apparatus and thereby modulates transcription regulation and chromatin formation. Can both act as an activator or a repressor depending on the context. Mediates MBD1-dependent transcriptional repression, probably by recruiting complexes containing SETDB1. The complex formed with MBD1 and SETDB1 represses transcription and probably couples DNA methylation and histone H3 'Lys-9' trimethylation (H3K9me3) activity (Probable). {ECO:0000305}.	FUNCTION: Tyrosine-protein kinase that acts as cell-surface receptor for homodimeric PDGFB and PDGFD and for heterodimers formed by PDGFA and PDGFB, and plays an essential role in the regulation of embryonic development, cell proliferation, survival, differentiation, chemotaxis and migration. Plays an essential role in blood vessel development by promoting proliferation, migration and recruitment of pericytes and smooth muscle cells to endothelial cells. Plays a role in the migration of vascular smooth muscle cells and the formation of neointima at vascular injury sites. Required for normal development of the cardiovascular system. Required for normal recruitment of pericytes (mesangial cells) in the kidney glomerulus, and for normal formation of a branched network of capillaries in kidney glomeruli. Promotes rearrangement of the actin cytoskeleton and the formation of membrane ruffles. Binding of its cognate ligands - homodimeric PDGFB, heterodimers formed by PDGFA and PDGFB or homodimeric PDGFD -leads to the activation of several signaling cascades; the response depends on the nature of the bound ligand and is modulated by the formation of heterodimers between PDGFRA and PDGFRB. Phosphorylates PLCG1, PIK3R1, PTPN11, RASA1/GAP, CBL, SHC1 and NCK1. Activation of PLCG1 leads to the production of the cellular signaling molecules diacylglycerol and inositol 1,4,5-trisphosphate, mobilization of cytosolic Ca(2+) and the activation of protein kinase C. Phosphorylation of PIK3R1, the regulatory subunit of phosphatidylinositol 3-kinase, leads to the activation of the AKT1 signaling pathway. Phosphorylation of SHC1, or of the C-terminus of PTPN11, creates a binding site for GRB2, resulting in the activation of HRAS, RAF1 and down-stream MAP kinases, including MAPK1/ERK2 and/or MAPK3/ERK1. Promotes phosphorylation and activation of SRC family kinases. Promotes phosphorylation of PDCD6IP/ALIX and STAM. Receptor signaling is down-regulated by protein phosphatases that dephosphorylate the receptor and its down-stream effectors, and by rapid internalization of the activated receptor. {ECO:0000269\|PubMed:11297552, ECO:0000269\|PubMed:11331881, ECO:0000269\|PubMed:1314164, ECO:0000269\|PubMed:1396585, ECO:0000269\|PubMed:1653029, ECO:0000269\|PubMed:1709159, ECO:0000269\|PubMed:1846866, ECO:0000269\|PubMed:20494825, ECO:0000269\|PubMed:20529858, ECO:0000269\|PubMed:21098708, ECO:0000269\|PubMed:21679854, ECO:0000269\|PubMed:21733313, ECO:0000269\|PubMed:2554309, ECO:0000269\|PubMed:26599395, ECO:0000269\|PubMed:2835772, ECO:0000269\|PubMed:2850496, ECO:0000269\|PubMed:7685273, ECO:0000269\|PubMed:7691811, ECO:0000269\|PubMed:7692233, ECO:0000269\|PubMed:8195171}.

Retention 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.

Partner

Gene

Hbp

Tbp

ENST

Strand

BPexon

TotalExon

Protein feature loci

*BPloci

TotalLen

Protein feature

Protein feature note

Hgene

ATF7IP

chr12:14634119

chr5:149506177

ENST00000261168

617_665

1093.3333333333333

1271.0

Coiled coil

Ontology_term=ECO:0000255

Hgene

ATF7IP

chr12:14634119

chr5:149506177

ENST00000540793

617_665

1093.3333333333333

1271.0

Coiled coil

Ontology_term=ECO:0000255

Hgene

ATF7IP

chr12:14634119

chr5:149506177

ENST00000261168

349_580

1093.3333333333333

1271.0

Compositional bias

Note=Glu-rich

Hgene

ATF7IP

chr12:14634119

chr5:149506177

ENST00000540793

349_580

1093.3333333333333

1271.0

Compositional bias

Note=Glu-rich

Hgene

ATF7IP

chr12:14634119

chr5:149506177

ENST00000261168

553_571

1093.3333333333333

1271.0

Motif

Nuclear localization signal

Hgene

ATF7IP

chr12:14634119

chr5:149506177

ENST00000540793

553_571

1093.3333333333333

1271.0

Motif

Nuclear localization signal

Tgene

PDGFRB

chr12:14634119

chr5:149506177

ENST00000261799

600_962

526.3333333333334

1107.0

Domain

Protein kinase

Tgene

PDGFRB

chr12:14634119

chr5:149506177

ENST00000261799

606_614

526.3333333333334

1107.0

Nucleotide binding

ATP

Tgene

PDGFRB

chr12:14634119

chr5:149506177

ENST00000261799

554_1106

526.3333333333334

1107.0

Topological domain

Cytoplasmic

Tgene

PDGFRB

chr12:14634119

chr5:149506177

ENST00000261799

533_553

526.3333333333334

1107.0

Transmembrane

Helical

- Not-retained protein feature among the 13 regional features.

Partner

Gene

Hbp

Tbp

ENST

Strand

BPexon

TotalExon

Protein feature loci

*BPloci

TotalLen

Protein feature

Protein feature note

Hgene

ATF7IP

chr12:14634119

chr5:149506177

ENST00000543189

617_665

1106.0

Coiled coil

Ontology_term=ECO:0000255

Hgene

ATF7IP

chr12:14634119

chr5:149506177

ENST00000543189

349_580

1106.0

Compositional bias

Note=Glu-rich

Hgene

ATF7IP

chr12:14634119

chr5:149506177

ENST00000261168

1160_1270

1093.3333333333333

1271.0

Domain

Fibronectin type-III

Hgene

ATF7IP

chr12:14634119

chr5:149506177

ENST00000540793

1160_1270

1093.3333333333333

1271.0

Domain

Fibronectin type-III

Hgene

ATF7IP

chr12:14634119

chr5:149506177

ENST00000543189

1160_1270

1106.0

Domain

Fibronectin type-III

Hgene

ATF7IP

chr12:14634119

chr5:149506177

ENST00000543189

553_571

1106.0

Motif

Nuclear localization signal

Tgene

PDGFRB

chr12:14634119

chr5:149506177

ENST00000261799

129_210

526.3333333333334

1107.0

Domain

Note=Ig-like C2-type 2

Tgene

PDGFRB

chr12:14634119

chr5:149506177

ENST00000261799

214_309

526.3333333333334

1107.0

Domain

Note=Ig-like C2-type 3

Tgene

PDGFRB

chr12:14634119

chr5:149506177

ENST00000261799

331_403

526.3333333333334

1107.0

Domain

Note=Ig-like C2-type 4

Tgene

PDGFRB

chr12:14634119

chr5:149506177

ENST00000261799

33_120

526.3333333333334

1107.0

Domain

Note=Ig-like C2-type 1

Tgene

PDGFRB

chr12:14634119

chr5:149506177

ENST00000261799

416_524

526.3333333333334

1107.0

Domain

Note=Ig-like C2-type 5

Tgene

PDGFRB

chr12:14634119

chr5:149506177

ENST00000261799

33_532

526.3333333333334

1107.0

Topological domain

Extracellular

Top

Fusion Protein Structures

PDB and CIF files of the predicted fusion proteins
* Here we show the 3D structure of the fusion proteins using Mol*. AlphaFold produces a per-residue confidence score (pLDDT) between 0 and 100. Model confidence is shown from the pLDDT values per residue. pLDDT corresponds to the model’s prediction of its score on the local Distance Difference Test. It is a measure of local accuracy (from AlphfaFold website). To color code individual residues, we transformed individual PDB files into CIF format.

Fusion protein PDB link (fusion AA seq ID in FusionPDB)

Hgene

Hchr

Hbp

Hstrand

Tgene

Tchr

Tbp

Tstrand

AA seq

Len(AA seq)

Top

pLDDT score distribution

pLDDT score distribution of the predicted wild-type structures of two partner proteins from AlphaFold2
* AlphaFold produces a per-residue confidence score (pLDDT) between 0 and 100.

ATF7IP_pLDDT.png

PDGFRB_pLDDT.png

pLDDT score distribution of the predicted fusion protein structures from AlphaFold2
* AlphaFold produces a per-residue confidence score (pLDDT) between 0 and 100.

Top

Ramachandran Plot of Fusion Protein Structure

Ramachandran plot of the torsional angles - phi (φ)and psi (ψ) - of the residues (amino acids) contained in this fusion protein peptide.

Fusion AA seq ID in FusionPDB and their Ramachandran plots

Top

Fusion Protein-Protein Interaction

Go to ChiPPI (Chimeric Protein-Protein interactions) to see the chimeric PPI interaction in
ChiPPI page.

Protein-protein interactors with each fusion partner protein in wild-type from validated records (BIOGRID-3.4.160)

Gene

PPI interactors

Protein-protein interactors based on sequence similarity (STRING)

Gene	STRING network
ATF7IP
PDGFRB

- Retained interactions in fusion protein (protein functional feature from UniProt).

Partner

Gene

Hbp

Tbp

ENST

Strand

BPexon

TotalExon

Protein feature loci

*BPloci

TotalLen

Still interaction with

- Lost interactions due to fusion (protein functional feature from UniProt).

Partner	Gene	Hbp	Tbp	ENST	Strand	BPexon	TotalExon	Protein feature loci	*BPloci	TotalLen	Interaction lost with
Hgene	ATF7IP	chr12:14634119	chr5:149506177	ENST00000261168	+	13	15	1154_1270	1093.3333333333333	1271.0	MBD1
Hgene	ATF7IP	chr12:14634119	chr5:149506177	ENST00000540793	+	12	14	1154_1270	1093.3333333333333	1271.0	MBD1
Hgene	ATF7IP	chr12:14634119	chr5:149506177	ENST00000543189	+	1	13	1154_1270	0	1106.0	MBD1
Hgene	ATF7IP	chr12:14634119	chr5:149506177	ENST00000543189	+	1	13	562_817	0	1106.0	SETDB1
Hgene	ATF7IP	chr12:14634119	chr5:149506177	ENST00000543189	+	1	13	965_975	0	1106.0	SUMO

Top

Related Drugs to ATF7IP-PDGFRB

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

Hgene

Tgene

Drug

Source

PMID

Top

Related Diseases to ATF7IP-PDGFRB

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

Hgene

Tgene

Disease

Source

PMID

Diseases associated with fusion partners.
(DisGeNet 4.0)

Partner	Gene	Disease ID	Disease name	# pubmeds	Source
Tgene	PDGFRB	C3554321	BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 4	6	CTD_human;GENOMICS_ENGLAND;UNIPROT
Tgene	PDGFRB	C0393590	Fahr's syndrome (disorder)	3	GENOMICS_ENGLAND;ORPHANET
Tgene	PDGFRB	C4225270	Kosaki overgrowth syndrome	3	CTD_human;GENOMICS_ENGLAND;ORPHANET;UNIPROT
Tgene	PDGFRB	C4551572	MYOFIBROMATOSIS, INFANTILE, 1	3	GENOMICS_ENGLAND;UNIPROT
Tgene	PDGFRB	C0013421	Dystonia	2	GENOMICS_ENGLAND
Tgene	PDGFRB	C0023480	Leukemia, Myelomonocytic, Chronic	2	ORPHANET
Tgene	PDGFRB	C0023893	Liver Cirrhosis, Experimental	2	CTD_human
Tgene	PDGFRB	C0036341	Schizophrenia	2	PSYGENET
Tgene	PDGFRB	C0432284	Infantile myofibromatosis	2	CTD_human;GENOMICS_ENGLAND;ORPHANET
Tgene	PDGFRB	C0004782	Basal Ganglia Diseases	1	CTD_human
Tgene	PDGFRB	C0006663	Calcinosis	1	CTD_human
Tgene	PDGFRB	C0015371	Extrapyramidal Disorders	1	CTD_human
Tgene	PDGFRB	C0036337	Schizoaffective Disorder	1	PSYGENET
Tgene	PDGFRB	C0206648	Myofibromatosis	1	GENOMICS_ENGLAND
Tgene	PDGFRB	C0263628	Tumoral calcinosis	1	CTD_human
Tgene	PDGFRB	C0521174	Microcalcification	1	CTD_human
Tgene	PDGFRB	C0750951	Lenticulostriate Disorders	1	CTD_human
Tgene	PDGFRB	C1333046	Myeloproliferative Neoplasm, Unclassifiable	1	ORPHANET
Tgene	PDGFRB	C1866182	Penttinen-Aula syndrome	1	CTD_human;GENOMICS_ENGLAND;ORPHANET;UNIPROT
Tgene	PDGFRB	C3472621	Myeloid neoplasm with beta-type platelet-derived growth factor receptor gene rearrangement	1	ORPHANET
Tgene	PDGFRB	C3714756	Intellectual Disability	1	GENOMICS_ENGLAND