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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:AFF3-SAP130

Fusion Protein Summary

check button Fusion gene summary
Fusion partner gene informationFusion gene name: AFF3-SAP130
FusionPDB ID: 2693
FusionGDB2.0 ID: 2693
HgeneTgene
Gene symbol

AFF3

SAP130

Gene ID

3899

79595

Gene nameAF4/FMR2 family member 3Sin3A associated protein 130
SynonymsLAF4|MLLT2-like-
Cytomap

2q11.2

2q14.3

Type of geneprotein-codingprotein-coding
DescriptionAF4/FMR2 family member 3MLLT2-related proteinlymphoid nuclear protein 4lymphoid nuclear protein related to AF4protein LAF-4histone deacetylase complex subunit SAP130130 kDa Sin3-associated polypeptideSin3-associated polypeptide p130Sin3A associated protein 130kDa
Modification date2020031320200313
UniProtAcc

P51826

.
Ensembl transtripts involved in fusion geneENST idsENST00000409236, ENST00000317233, 
ENST00000356421, ENST00000409579, 
ENST00000483600, 		ENST00000259234, 
ENST00000259235, ENST00000357702, 
Fusion gene scores for assessment (based on all fusion genes of FusionGDB 2.0)* DoF score17 X 13 X 7=15478 X 6 X 4=192
# samples 178
** MAII scorelog2(17/1547*10)=-3.18586654531133
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(8/192*10)=-1.26303440583379
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context (manual curation of fusion genes in FusionPDB)

PubMed: AFF3 [Title/Abstract] AND SAP130 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpoint (based on all fusion genes of FusionGDB 2.0)AFF3(100720862)-SAP130(128770729), # samples:1
Anticipated loss of major functional domain due to fusion event.AFF3-SAP130 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.
AFF3-SAP130 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.
AFF3-SAP130 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.
AFF3-SAP130 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.
AFF3-SAP130 seems lost the major protein functional domain in Hgene partner, which is a CGC due to the frame-shifted ORF.
AFF3-SAP130 seems lost the major protein functional domain in Hgene partner, which is a essential gene due to the frame-shifted ORF.
AFF3-SAP130 seems lost the major protein functional domain in Tgene partner, which is a epigenetic factor due to the frame-shifted ORF.
AFF3-SAP130 seems lost the major protein functional domain in Tgene partner, which is a essential gene 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

check buttonFusion gene breakpoints across AFF3 (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 SAP130 (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
ChiTaRS5.0N/ADA775410AFF3chr2

100720862

-SAP130chr2

128770729

-


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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)
ENST00000356421AFF3chr2100720862-ENST00000357702SAP130chr2128770729-35411972172751844
ENST00000356421AFF3chr2100720862-ENST00000259235SAP130chr2128770729-34351972172646809
ENST00000356421AFF3chr2100720862-ENST00000259234SAP130chr2128770729-35311972172748843
ENST00000317233AFF3chr2100720862-ENST00000357702SAP130chr2128770729-36332893092843844
ENST00000317233AFF3chr2100720862-ENST00000259235SAP130chr2128770729-35272893092738809
ENST00000317233AFF3chr2100720862-ENST00000259234SAP130chr2128770729-36232893092840843
ENST00000409579AFF3chr2100720862-ENST00000357702SAP130chr2128770729-36302863062840844
ENST00000409579AFF3chr2100720862-ENST00000259235SAP130chr2128770729-35242863062735809
ENST00000409579AFF3chr2100720862-ENST00000259234SAP130chr2128770729-36202863062837843

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
ENST00000356421ENST00000357702AFF3chr2100720862-SAP130chr2128770729-0.0048294790.99517053
ENST00000356421ENST00000259235AFF3chr2100720862-SAP130chr2128770729-0.0054929960.994507
ENST00000356421ENST00000259234AFF3chr2100720862-SAP130chr2128770729-0.0048990320.99510103
ENST00000317233ENST00000357702AFF3chr2100720862-SAP130chr2128770729-0.0053885170.9946115
ENST00000317233ENST00000259235AFF3chr2100720862-SAP130chr2128770729-0.0060795330.99392045
ENST00000317233ENST00000259234AFF3chr2100720862-SAP130chr2128770729-0.0055122730.9944877
ENST00000409579ENST00000357702AFF3chr2100720862-SAP130chr2128770729-0.0047085170.9952915
ENST00000409579ENST00000259235AFF3chr2100720862-SAP130chr2128770729-0.0052712080.99472886
ENST00000409579ENST00000259234AFF3chr2100720862-SAP130chr2128770729-0.004816640.9951834

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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

>2693_2693_1_AFF3-SAP130_AFF3_chr2_100720862_ENST00000317233_SAP130_chr2_128770729_ENST00000259234_length(amino acids)=843AA_BP=
MSSSKVTTVLRPTSQLPNAATAQPAVQHIIHQPIQSRPPVTTSNAIPPAVVATVSATRAQSPVITTTAAHATDSALSRPTLSIQHPPSAA
ISIQRPAQSRDVTTRITLPSHPALGTPKQQLHTMAQKTIFSTGTPVAAATVAPILATNTIPSATTAGSVSHTQAPTSTIVTMTVPSHSSH
ATAVTTSNIPVAKVVPQQITHTSPRIQPDYPAERSSLIPISGHRASPNPVAMETRSDNRPSVPVQFQYFLPTYPPSAYPLAAHTYTPITS
SVSTIRQYPVSAQAPNSAITAQTGVGVASTVHLNPMQLMTVDASHARHIQGIQPAPISTQGIQPAPIGTPGIQPAPLGTQGIHSATPINT
QGLQPAPMGTQQPQPEGKTSVVLADGATIVANPISNPFSAAPAATTVVQTHSQSASTNAPAQGSSPRPSILRKKPATDGMAVRKTLIPPQ
PPDVASPRVESSMRSTSGSPRPAGAKPKSEIHVSMATPVTVSMETVSNQNNDQPTIAVPPTAQQPPPTIPTMIAAASPPSQPAVALSTIP
GAVPITPPITTIAAAPPPSVTVGGSLSSVLGPPVPEIKVKEEVEPMDIMRPVSAVPPLATNTVSPSLALLANNLSMPTSDLPPGASPRKK
PRKQQHVISTEEGDMMETNSTDDEKSTAKSLLVKAEKRKSPPKEYIDEEGVRYVPVRPRPPITLLRHYRNPWKAAYHHFQRYSDVRVKEE
KKAMLQEIANQKGVSCRAQGWKVHLCAAQLLQLTNLEHDVYERLTNLQEGIIPKKKAATDDDLHRINELIQGNMQRCKLVMDQISEARDS

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

>2693_2693_2_AFF3-SAP130_AFF3_chr2_100720862_ENST00000317233_SAP130_chr2_128770729_ENST00000259235_length(amino acids)=809AA_BP=
MSSSKVTTVLRPTSQLPNAATAQPAVQHIIHQPIQSRPPVTTSNAIPPAVVATVSATRAQSPVITTTAAHATDSALSRPTLSIQHPPSAA
ISIQRPAQSRDVTTRITLPSHPALGTPKQQLHTMAQKTIFSTGTPVAAATVAPILATNTIPSATTAGSVSHTQAPTSTIVTMTVPSHSSH
ATAVTTSNIPVAKVVPQQITHTSPRIQPDYPAERSSLIPISGHRASPNPVAMETRSDNRPSVPVQFQYFLPTYPPSAYPLAAHTYTPITS
SVSTIRQYPVSAQAPNSAITAQTGVGVASTVHLNPMQLMTVDASHARHIQGIQPAPISTQGIQPAPIGTPGIQPAPLGTQGIHSATPINT
QGLQPAPMGTQQPQPEGKTSAVVLADGATIVANPISNPFSAAPAATTVVQTHSQSASTNAPAQGSSPRPSILRKKPATDGAKPKSEIHVS
MATPVTVSMETVSNQNNDQPTIAVPPTAQQPPPTIPTMIAAASPPSQPAVALSTIPGAVPITPPITTIAAAPPPSVTVGGSLSSVLGPPV
PEIKVKEEVEPMDIMRPVSAVPPLATNTVSPSLALLANNLSMPTSDLPPGASPRKKPRKQQHVISTEEGDMMETNSTDDEKSTAKSLLVK
AEKRKSPPKEYIDEEGVRYVPVRPRPPITLLRHYRNPWKAAYHHFQRYSDVRVKEEKKAMLQEIANQKGVSCRAQGWKVHLCAAQLLQLT

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

>2693_2693_3_AFF3-SAP130_AFF3_chr2_100720862_ENST00000317233_SAP130_chr2_128770729_ENST00000357702_length(amino acids)=844AA_BP=
MSSSKVTTVLRPTSQLPNAATAQPAVQHIIHQPIQSRPPVTTSNAIPPAVVATVSATRAQSPVITTTAAHATDSALSRPTLSIQHPPSAA
ISIQRPAQSRDVTTRITLPSHPALGTPKQQLHTMAQKTIFSTGTPVAAATVAPILATNTIPSATTAGSVSHTQAPTSTIVTMTVPSHSSH
ATAVTTSNIPVAKVVPQQITHTSPRIQPDYPAERSSLIPISGHRASPNPVAMETRSDNRPSVPVQFQYFLPTYPPSAYPLAAHTYTPITS
SVSTIRQYPVSAQAPNSAITAQTGVGVASTVHLNPMQLMTVDASHARHIQGIQPAPISTQGIQPAPIGTPGIQPAPLGTQGIHSATPINT
QGLQPAPMGTQQPQPEGKTSAVVLADGATIVANPISNPFSAAPAATTVVQTHSQSASTNAPAQGSSPRPSILRKKPATDGMAVRKTLIPP
QPPDVASPRVESSMRSTSGSPRPAGAKPKSEIHVSMATPVTVSMETVSNQNNDQPTIAVPPTAQQPPPTIPTMIAAASPPSQPAVALSTI
PGAVPITPPITTIAAAPPPSVTVGGSLSSVLGPPVPEIKVKEEVEPMDIMRPVSAVPPLATNTVSPSLALLANNLSMPTSDLPPGASPRK
KPRKQQHVISTEEGDMMETNSTDDEKSTAKSLLVKAEKRKSPPKEYIDEEGVRYVPVRPRPPITLLRHYRNPWKAAYHHFQRYSDVRVKE
EKKAMLQEIANQKGVSCRAQGWKVHLCAAQLLQLTNLEHDVYERLTNLQEGIIPKKKAATDDDLHRINELIQGNMQRCKLVMDQISEARD

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

>2693_2693_4_AFF3-SAP130_AFF3_chr2_100720862_ENST00000356421_SAP130_chr2_128770729_ENST00000259234_length(amino acids)=843AA_BP=
MSSSKVTTVLRPTSQLPNAATAQPAVQHIIHQPIQSRPPVTTSNAIPPAVVATVSATRAQSPVITTTAAHATDSALSRPTLSIQHPPSAA
ISIQRPAQSRDVTTRITLPSHPALGTPKQQLHTMAQKTIFSTGTPVAAATVAPILATNTIPSATTAGSVSHTQAPTSTIVTMTVPSHSSH
ATAVTTSNIPVAKVVPQQITHTSPRIQPDYPAERSSLIPISGHRASPNPVAMETRSDNRPSVPVQFQYFLPTYPPSAYPLAAHTYTPITS
SVSTIRQYPVSAQAPNSAITAQTGVGVASTVHLNPMQLMTVDASHARHIQGIQPAPISTQGIQPAPIGTPGIQPAPLGTQGIHSATPINT
QGLQPAPMGTQQPQPEGKTSVVLADGATIVANPISNPFSAAPAATTVVQTHSQSASTNAPAQGSSPRPSILRKKPATDGMAVRKTLIPPQ
PPDVASPRVESSMRSTSGSPRPAGAKPKSEIHVSMATPVTVSMETVSNQNNDQPTIAVPPTAQQPPPTIPTMIAAASPPSQPAVALSTIP
GAVPITPPITTIAAAPPPSVTVGGSLSSVLGPPVPEIKVKEEVEPMDIMRPVSAVPPLATNTVSPSLALLANNLSMPTSDLPPGASPRKK
PRKQQHVISTEEGDMMETNSTDDEKSTAKSLLVKAEKRKSPPKEYIDEEGVRYVPVRPRPPITLLRHYRNPWKAAYHHFQRYSDVRVKEE
KKAMLQEIANQKGVSCRAQGWKVHLCAAQLLQLTNLEHDVYERLTNLQEGIIPKKKAATDDDLHRINELIQGNMQRCKLVMDQISEARDS

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

>2693_2693_5_AFF3-SAP130_AFF3_chr2_100720862_ENST00000356421_SAP130_chr2_128770729_ENST00000259235_length(amino acids)=809AA_BP=
MSSSKVTTVLRPTSQLPNAATAQPAVQHIIHQPIQSRPPVTTSNAIPPAVVATVSATRAQSPVITTTAAHATDSALSRPTLSIQHPPSAA
ISIQRPAQSRDVTTRITLPSHPALGTPKQQLHTMAQKTIFSTGTPVAAATVAPILATNTIPSATTAGSVSHTQAPTSTIVTMTVPSHSSH
ATAVTTSNIPVAKVVPQQITHTSPRIQPDYPAERSSLIPISGHRASPNPVAMETRSDNRPSVPVQFQYFLPTYPPSAYPLAAHTYTPITS
SVSTIRQYPVSAQAPNSAITAQTGVGVASTVHLNPMQLMTVDASHARHIQGIQPAPISTQGIQPAPIGTPGIQPAPLGTQGIHSATPINT
QGLQPAPMGTQQPQPEGKTSAVVLADGATIVANPISNPFSAAPAATTVVQTHSQSASTNAPAQGSSPRPSILRKKPATDGAKPKSEIHVS
MATPVTVSMETVSNQNNDQPTIAVPPTAQQPPPTIPTMIAAASPPSQPAVALSTIPGAVPITPPITTIAAAPPPSVTVGGSLSSVLGPPV
PEIKVKEEVEPMDIMRPVSAVPPLATNTVSPSLALLANNLSMPTSDLPPGASPRKKPRKQQHVISTEEGDMMETNSTDDEKSTAKSLLVK
AEKRKSPPKEYIDEEGVRYVPVRPRPPITLLRHYRNPWKAAYHHFQRYSDVRVKEEKKAMLQEIANQKGVSCRAQGWKVHLCAAQLLQLT

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

>2693_2693_6_AFF3-SAP130_AFF3_chr2_100720862_ENST00000356421_SAP130_chr2_128770729_ENST00000357702_length(amino acids)=844AA_BP=
MSSSKVTTVLRPTSQLPNAATAQPAVQHIIHQPIQSRPPVTTSNAIPPAVVATVSATRAQSPVITTTAAHATDSALSRPTLSIQHPPSAA
ISIQRPAQSRDVTTRITLPSHPALGTPKQQLHTMAQKTIFSTGTPVAAATVAPILATNTIPSATTAGSVSHTQAPTSTIVTMTVPSHSSH
ATAVTTSNIPVAKVVPQQITHTSPRIQPDYPAERSSLIPISGHRASPNPVAMETRSDNRPSVPVQFQYFLPTYPPSAYPLAAHTYTPITS
SVSTIRQYPVSAQAPNSAITAQTGVGVASTVHLNPMQLMTVDASHARHIQGIQPAPISTQGIQPAPIGTPGIQPAPLGTQGIHSATPINT
QGLQPAPMGTQQPQPEGKTSAVVLADGATIVANPISNPFSAAPAATTVVQTHSQSASTNAPAQGSSPRPSILRKKPATDGMAVRKTLIPP
QPPDVASPRVESSMRSTSGSPRPAGAKPKSEIHVSMATPVTVSMETVSNQNNDQPTIAVPPTAQQPPPTIPTMIAAASPPSQPAVALSTI
PGAVPITPPITTIAAAPPPSVTVGGSLSSVLGPPVPEIKVKEEVEPMDIMRPVSAVPPLATNTVSPSLALLANNLSMPTSDLPPGASPRK
KPRKQQHVISTEEGDMMETNSTDDEKSTAKSLLVKAEKRKSPPKEYIDEEGVRYVPVRPRPPITLLRHYRNPWKAAYHHFQRYSDVRVKE
EKKAMLQEIANQKGVSCRAQGWKVHLCAAQLLQLTNLEHDVYERLTNLQEGIIPKKKAATDDDLHRINELIQGNMQRCKLVMDQISEARD

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

>2693_2693_7_AFF3-SAP130_AFF3_chr2_100720862_ENST00000409579_SAP130_chr2_128770729_ENST00000259234_length(amino acids)=843AA_BP=
MSSSKVTTVLRPTSQLPNAATAQPAVQHIIHQPIQSRPPVTTSNAIPPAVVATVSATRAQSPVITTTAAHATDSALSRPTLSIQHPPSAA
ISIQRPAQSRDVTTRITLPSHPALGTPKQQLHTMAQKTIFSTGTPVAAATVAPILATNTIPSATTAGSVSHTQAPTSTIVTMTVPSHSSH
ATAVTTSNIPVAKVVPQQITHTSPRIQPDYPAERSSLIPISGHRASPNPVAMETRSDNRPSVPVQFQYFLPTYPPSAYPLAAHTYTPITS
SVSTIRQYPVSAQAPNSAITAQTGVGVASTVHLNPMQLMTVDASHARHIQGIQPAPISTQGIQPAPIGTPGIQPAPLGTQGIHSATPINT
QGLQPAPMGTQQPQPEGKTSVVLADGATIVANPISNPFSAAPAATTVVQTHSQSASTNAPAQGSSPRPSILRKKPATDGMAVRKTLIPPQ
PPDVASPRVESSMRSTSGSPRPAGAKPKSEIHVSMATPVTVSMETVSNQNNDQPTIAVPPTAQQPPPTIPTMIAAASPPSQPAVALSTIP
GAVPITPPITTIAAAPPPSVTVGGSLSSVLGPPVPEIKVKEEVEPMDIMRPVSAVPPLATNTVSPSLALLANNLSMPTSDLPPGASPRKK
PRKQQHVISTEEGDMMETNSTDDEKSTAKSLLVKAEKRKSPPKEYIDEEGVRYVPVRPRPPITLLRHYRNPWKAAYHHFQRYSDVRVKEE
KKAMLQEIANQKGVSCRAQGWKVHLCAAQLLQLTNLEHDVYERLTNLQEGIIPKKKAATDDDLHRINELIQGNMQRCKLVMDQISEARDS

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

>2693_2693_8_AFF3-SAP130_AFF3_chr2_100720862_ENST00000409579_SAP130_chr2_128770729_ENST00000259235_length(amino acids)=809AA_BP=
MSSSKVTTVLRPTSQLPNAATAQPAVQHIIHQPIQSRPPVTTSNAIPPAVVATVSATRAQSPVITTTAAHATDSALSRPTLSIQHPPSAA
ISIQRPAQSRDVTTRITLPSHPALGTPKQQLHTMAQKTIFSTGTPVAAATVAPILATNTIPSATTAGSVSHTQAPTSTIVTMTVPSHSSH
ATAVTTSNIPVAKVVPQQITHTSPRIQPDYPAERSSLIPISGHRASPNPVAMETRSDNRPSVPVQFQYFLPTYPPSAYPLAAHTYTPITS
SVSTIRQYPVSAQAPNSAITAQTGVGVASTVHLNPMQLMTVDASHARHIQGIQPAPISTQGIQPAPIGTPGIQPAPLGTQGIHSATPINT
QGLQPAPMGTQQPQPEGKTSAVVLADGATIVANPISNPFSAAPAATTVVQTHSQSASTNAPAQGSSPRPSILRKKPATDGAKPKSEIHVS
MATPVTVSMETVSNQNNDQPTIAVPPTAQQPPPTIPTMIAAASPPSQPAVALSTIPGAVPITPPITTIAAAPPPSVTVGGSLSSVLGPPV
PEIKVKEEVEPMDIMRPVSAVPPLATNTVSPSLALLANNLSMPTSDLPPGASPRKKPRKQQHVISTEEGDMMETNSTDDEKSTAKSLLVK
AEKRKSPPKEYIDEEGVRYVPVRPRPPITLLRHYRNPWKAAYHHFQRYSDVRVKEEKKAMLQEIANQKGVSCRAQGWKVHLCAAQLLQLT

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

>2693_2693_9_AFF3-SAP130_AFF3_chr2_100720862_ENST00000409579_SAP130_chr2_128770729_ENST00000357702_length(amino acids)=844AA_BP=
MSSSKVTTVLRPTSQLPNAATAQPAVQHIIHQPIQSRPPVTTSNAIPPAVVATVSATRAQSPVITTTAAHATDSALSRPTLSIQHPPSAA
ISIQRPAQSRDVTTRITLPSHPALGTPKQQLHTMAQKTIFSTGTPVAAATVAPILATNTIPSATTAGSVSHTQAPTSTIVTMTVPSHSSH
ATAVTTSNIPVAKVVPQQITHTSPRIQPDYPAERSSLIPISGHRASPNPVAMETRSDNRPSVPVQFQYFLPTYPPSAYPLAAHTYTPITS
SVSTIRQYPVSAQAPNSAITAQTGVGVASTVHLNPMQLMTVDASHARHIQGIQPAPISTQGIQPAPIGTPGIQPAPLGTQGIHSATPINT
QGLQPAPMGTQQPQPEGKTSAVVLADGATIVANPISNPFSAAPAATTVVQTHSQSASTNAPAQGSSPRPSILRKKPATDGMAVRKTLIPP
QPPDVASPRVESSMRSTSGSPRPAGAKPKSEIHVSMATPVTVSMETVSNQNNDQPTIAVPPTAQQPPPTIPTMIAAASPPSQPAVALSTI
PGAVPITPPITTIAAAPPPSVTVGGSLSSVLGPPVPEIKVKEEVEPMDIMRPVSAVPPLATNTVSPSLALLANNLSMPTSDLPPGASPRK
KPRKQQHVISTEEGDMMETNSTDDEKSTAKSLLVKAEKRKSPPKEYIDEEGVRYVPVRPRPPITLLRHYRNPWKAAYHHFQRYSDVRVKE
EKKAMLQEIANQKGVSCRAQGWKVHLCAAQLLQLTNLEHDVYERLTNLQEGIIPKKKAATDDDLHRINELIQGNMQRCKLVMDQISEARD

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

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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/chr2:100720862/chr2:128770729)
- 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
AFF3

P51826

.
FUNCTION: Putative transcription activator that may function in lymphoid development and oncogenesis. Binds, in vitro, to double-stranded DNA.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.
- Retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
TgeneSAP130chr2:100720862chr2:128770729ENST00000259235420234_238232.333333333333341049.0Compositional biasNote=Poly-Ala
TgeneSAP130chr2:100720862chr2:128770729ENST00000259235420709_836232.333333333333341049.0Compositional biasNote=Pro-rich
TgeneSAP130chr2:100720862chr2:128770729ENST00000357702421234_238232.333333333333341084.0Compositional biasNote=Poly-Ala
TgeneSAP130chr2:100720862chr2:128770729ENST00000357702421709_836232.333333333333341084.0Compositional biasNote=Pro-rich

- Not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgeneAFF3chr2:100720862chr2:128770729ENST00000317233-324413_41917.6666666666666681227.0Compositional biasNote=Poly-Ser
HgeneAFF3chr2:100720862chr2:128770729ENST00000317233-324422_43217.6666666666666681227.0Compositional biasNote=Poly-Ser
HgeneAFF3chr2:100720862chr2:128770729ENST00000317233-324440_44517.6666666666666681227.0Compositional biasNote=Poly-Ser
HgeneAFF3chr2:100720862chr2:128770729ENST00000317233-324670_67917.6666666666666681227.0Compositional biasNote=Poly-Ser
HgeneAFF3chr2:100720862chr2:128770729ENST00000356421-224413_41917.6666666666666681252.0Compositional biasNote=Poly-Ser
HgeneAFF3chr2:100720862chr2:128770729ENST00000356421-224422_43217.6666666666666681252.0Compositional biasNote=Poly-Ser
HgeneAFF3chr2:100720862chr2:128770729ENST00000356421-224440_44517.6666666666666681252.0Compositional biasNote=Poly-Ser
HgeneAFF3chr2:100720862chr2:128770729ENST00000356421-224670_67917.6666666666666681252.0Compositional biasNote=Poly-Ser
HgeneAFF3chr2:100720862chr2:128770729ENST00000409236-223413_41917.6666666666666681227.0Compositional biasNote=Poly-Ser
HgeneAFF3chr2:100720862chr2:128770729ENST00000409236-223422_43217.6666666666666681227.0Compositional biasNote=Poly-Ser
HgeneAFF3chr2:100720862chr2:128770729ENST00000409236-223440_44517.6666666666666681227.0Compositional biasNote=Poly-Ser
HgeneAFF3chr2:100720862chr2:128770729ENST00000409236-223670_67917.6666666666666681227.0Compositional biasNote=Poly-Ser
HgeneAFF3chr2:100720862chr2:128770729ENST00000409579-325413_41917.6666666666666681252.0Compositional biasNote=Poly-Ser
HgeneAFF3chr2:100720862chr2:128770729ENST00000409579-325422_43217.6666666666666681252.0Compositional biasNote=Poly-Ser
HgeneAFF3chr2:100720862chr2:128770729ENST00000409579-325440_44517.6666666666666681252.0Compositional biasNote=Poly-Ser
HgeneAFF3chr2:100720862chr2:128770729ENST00000409579-325670_67917.6666666666666681252.0Compositional biasNote=Poly-Ser
TgeneSAP130chr2:100720862chr2:128770729ENST00000259235420124_169232.333333333333341049.0Compositional biasNote=Pro-rich
TgeneSAP130chr2:100720862chr2:128770729ENST0000025923542081_85232.333333333333341049.0Compositional biasNote=Poly-Ser
TgeneSAP130chr2:100720862chr2:128770729ENST00000357702421124_169232.333333333333341084.0Compositional biasNote=Pro-rich
TgeneSAP130chr2:100720862chr2:128770729ENST0000035770242181_85232.333333333333341084.0Compositional biasNote=Poly-Ser


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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
AFF3all structure
SAP130


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 AFF3-SAP130


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 AFF3-SAP130


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
HgeneAFF3C0003873Rheumatoid Arthritis2CTD_human
HgeneAFF3C0013146Drug abuse1CTD_human
HgeneAFF3C0013170Drug habituation1CTD_human
HgeneAFF3C0013222Drug Use Disorders1CTD_human
HgeneAFF3C0029231Organic Mental Disorders, Substance-Induced1CTD_human
HgeneAFF3C0036572Seizures1GENOMICS_ENGLAND
HgeneAFF3C0038580Substance Dependence1CTD_human
HgeneAFF3C0038586Substance Use Disorders1CTD_human
HgeneAFF3C0236969Substance-Related Disorders1CTD_human
HgeneAFF3C0740858Substance abuse problem1CTD_human
HgeneAFF3C1510472Drug Dependence1CTD_human
HgeneAFF3C3714756Intellectual Disability1GENOMICS_ENGLAND
HgeneAFF3C4316881Prescription Drug Abuse1CTD_human