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Center for Computational Systems Medicine
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Fusion Gene Summary

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Fusion Gene ORF analysis

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Fusion Genomic Features

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Fusion Protein Features

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Fusion Gene Sequence

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Fusion Gene PPI analysis

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Related Drugs

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Related Diseases

Fusion gene:SF3B1-ACTN1 (FusionGDB2 ID:81044)

Fusion Gene Summary for SF3B1-ACTN1

check button Fusion gene summary
Fusion gene informationFusion gene name: SF3B1-ACTN1
Fusion gene ID: 81044
HgeneTgene
Gene symbol

SF3B1

ACTN1

Gene ID

23451

87

Gene namesplicing factor 3b subunit 1actinin alpha 1
SynonymsHsh155|MDS|PRP10|PRPF10|SAP155|SF3b155BDPLT15
Cytomap

2q33.1

14q24.1|14q22-q24

Type of geneprotein-codingprotein-coding
Descriptionsplicing factor 3B subunit 1pre-mRNA processing 10pre-mRNA splicing factor SF3b, 155 kDa subunitspliceosome-associated protein 155splicing factor 3b, subunit 1, 155kDaalpha-actinin-1F-actin cross-linking proteinactinin 1 smooth musclealpha-actinin cytoskeletal isoformepididymis secretory sperm binding proteinnon-muscle alpha-actinin-1
Modification date2020032920200327
UniProtAcc.

P12814

Ensembl transtripts involved in fusion geneENST00000409915, ENST00000335508, 
ENST00000414963, ENST00000462613, 
ENST00000487698, 		ENST00000193403, 
ENST00000376839, ENST00000394419, 
ENST00000438964, ENST00000538545, 
ENST00000554508, 
Fusion gene scores* DoF score8 X 12 X 3=28817 X 18 X 5=1530
# samples 1320
** MAII scorelog2(13/288*10)=-1.14755718841386
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(20/1530*10)=-2.93545974780529
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: SF3B1 [Title/Abstract] AND ACTN1 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointSF3B1(198283233)-ACTN1(69347629), # samples:1
Anticipated loss of major functional domain due to fusion event.
* 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
HgeneSF3B1

GO:0000398

mRNA splicing, via spliceosome

11252167|28781166|29360106


check buttonFusion gene breakpoints across SF3B1 (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 ACTN1 (3'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.
all structure

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
ChimerDB4STADTCGA-D7-6822-01ASF3B1chr2

198283233

-ACTN1chr14

69347629

-


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Fusion Gene ORF analysis for SF3B1-ACTN1

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
3UTR-3CDSENST00000409915ENST00000193403SF3B1chr2

198283233

-ACTN1chr14

69347629

-
3UTR-3CDSENST00000409915ENST00000376839SF3B1chr2

198283233

-ACTN1chr14

69347629

-
3UTR-3CDSENST00000409915ENST00000394419SF3B1chr2

198283233

-ACTN1chr14

69347629

-
3UTR-3CDSENST00000409915ENST00000438964SF3B1chr2

198283233

-ACTN1chr14

69347629

-
3UTR-3CDSENST00000409915ENST00000538545SF3B1chr2

198283233

-ACTN1chr14

69347629

-
3UTR-intronENST00000409915ENST00000554508SF3B1chr2

198283233

-ACTN1chr14

69347629

-
5CDS-intronENST00000335508ENST00000554508SF3B1chr2

198283233

-ACTN1chr14

69347629

-
In-frameENST00000335508ENST00000193403SF3B1chr2

198283233

-ACTN1chr14

69347629

-
In-frameENST00000335508ENST00000376839SF3B1chr2

198283233

-ACTN1chr14

69347629

-
In-frameENST00000335508ENST00000394419SF3B1chr2

198283233

-ACTN1chr14

69347629

-
In-frameENST00000335508ENST00000438964SF3B1chr2

198283233

-ACTN1chr14

69347629

-
In-frameENST00000335508ENST00000538545SF3B1chr2

198283233

-ACTN1chr14

69347629

-
intron-3CDSENST00000414963ENST00000193403SF3B1chr2

198283233

-ACTN1chr14

69347629

-
intron-3CDSENST00000414963ENST00000376839SF3B1chr2

198283233

-ACTN1chr14

69347629

-
intron-3CDSENST00000414963ENST00000394419SF3B1chr2

198283233

-ACTN1chr14

69347629

-
intron-3CDSENST00000414963ENST00000438964SF3B1chr2

198283233

-ACTN1chr14

69347629

-
intron-3CDSENST00000414963ENST00000538545SF3B1chr2

198283233

-ACTN1chr14

69347629

-
intron-3CDSENST00000462613ENST00000193403SF3B1chr2

198283233

-ACTN1chr14

69347629

-
intron-3CDSENST00000462613ENST00000376839SF3B1chr2

198283233

-ACTN1chr14

69347629

-
intron-3CDSENST00000462613ENST00000394419SF3B1chr2

198283233

-ACTN1chr14

69347629

-
intron-3CDSENST00000462613ENST00000438964SF3B1chr2

198283233

-ACTN1chr14

69347629

-
intron-3CDSENST00000462613ENST00000538545SF3B1chr2

198283233

-ACTN1chr14

69347629

-
intron-3CDSENST00000487698ENST00000193403SF3B1chr2

198283233

-ACTN1chr14

69347629

-
intron-3CDSENST00000487698ENST00000376839SF3B1chr2

198283233

-ACTN1chr14

69347629

-
intron-3CDSENST00000487698ENST00000394419SF3B1chr2

198283233

-ACTN1chr14

69347629

-
intron-3CDSENST00000487698ENST00000438964SF3B1chr2

198283233

-ACTN1chr14

69347629

-
intron-3CDSENST00000487698ENST00000538545SF3B1chr2

198283233

-ACTN1chr14

69347629

-
intron-intronENST00000414963ENST00000554508SF3B1chr2

198283233

-ACTN1chr14

69347629

-
intron-intronENST00000462613ENST00000554508SF3B1chr2

198283233

-ACTN1chr14

69347629

-
intron-intronENST00000487698ENST00000554508SF3B1chr2

198283233

-ACTN1chr14

69347629

-

check buttonORFfinder result based on the fusion transcript sequence of in-frame fusion genes.
HenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrandSeq length
(transcript)		BP loci
(transcript)		Predicted start
(transcript)		Predicted stop
(transcript)		Seq length
(amino acids)
ENST00000335508SF3B1chr2198283233-ENST00000193403ACTN1chr1469347629-195258771745224
ENST00000335508SF3B1chr2198283233-ENST00000394419ACTN1chr1469347629-183858771745224
ENST00000335508SF3B1chr2198283233-ENST00000438964ACTN1chr1469347629-139458771745224
ENST00000335508SF3B1chr2198283233-ENST00000376839ACTN1chr1469347629-129758771745224
ENST00000335508SF3B1chr2198283233-ENST00000538545ACTN1chr1469347629-135058771874267

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
ENST00000335508ENST00000193403SF3B1chr2198283233-ACTN1chr1469347629-0.0004608510.99953914
ENST00000335508ENST00000394419SF3B1chr2198283233-ACTN1chr1469347629-0.0002574050.99974257
ENST00000335508ENST00000438964SF3B1chr2198283233-ACTN1chr1469347629-0.0002715140.9997285
ENST00000335508ENST00000376839SF3B1chr2198283233-ACTN1chr1469347629-0.0002024130.99979764
ENST00000335508ENST00000538545SF3B1chr2198283233-ACTN1chr1469347629-0.0004519830.999548

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Fusion Genomic Features for SF3B1-ACTN1


check buttonFusionAI prediction of the potential fusion gene breakpoint based on the pre-mature RNA sequence context (+/- 5kb of individual partner genes, total 20kb length sequence). FusionAI is a fusion gene breakpoint classifier based on convolutional neural network by comparing the fusion positive and negative sequence context of ~ 20K fusion gene data. From here, we can have the relative potentency of the 20K genomic sequence how individual sequnce will be likely used as the gene fusion breakpoints.
HgeneHchrHbpHstrandTgeneTchrTbpTstrand1-pp (fusion gene breakpoint)

check buttonDistribution of 44 human genomic features loci across 20kb length fusion breakpoint regions. We integrated a total of 44 different types of human genomic feature loci information across five big categories including virus integration sites, repeats, structural variants, chromatin states, and gene expression regulation. More details are in help page.
genomic feature

check buttonDistribution of 44 human genomic features loci across 20kb length fusion breakpoint regions that are ovelapped with the top 1% feature importance score regions. More details are in help page.

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Fusion Protein Features for SF3B1-ACTN1


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/chr2:198283233/chr14:69347629)
- 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
.ACTN1

P12814

FUNCTION: Transcriptional activator which is required for calcium-dependent dendritic growth and branching in cortical neurons. Recruits CREB-binding protein (CREBBP) to nuclear bodies. Component of the CREST-BRG1 complex, a multiprotein complex that regulates promoter activation by orchestrating a calcium-dependent release of a repressor complex and a recruitment of an activator complex. In resting neurons, transcription of the c-FOS promoter is inhibited by BRG1-dependent recruitment of a phospho-RB1-HDAC1 repressor complex. Upon calcium influx, RB1 is dephosphorylated by calcineurin, which leads to release of the repressor complex. At the same time, there is increased recruitment of CREBBP to the promoter by a CREST-dependent mechanism, which leads to transcriptional activation. The CREST-BRG1 complex also binds to the NR2B promoter, and activity-dependent induction of NR2B expression involves a release of HDAC1 and recruitment of CREBBP (By similarity). {ECO:0000250}.FUNCTION: F-actin cross-linking protein which is thought to anchor actin to a variety of intracellular structures. This is a bundling protein.

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
HgeneSF3B1chr2:198283233chr14:69347629ENST00000409915-671010_104818388.0RepeatNote=HEAT 8
HgeneSF3B1chr2:198283233chr14:69347629ENST00000409915-671052_109018388.0RepeatNote=HEAT 9
HgeneSF3B1chr2:198283233chr14:69347629ENST00000409915-671122_116018388.0RepeatNote=HEAT 10
HgeneSF3B1chr2:198283233chr14:69347629ENST00000409915-671163_120118388.0RepeatNote=HEAT 11
HgeneSF3B1chr2:198283233chr14:69347629ENST00000409915-67569_60318388.0RepeatNote=HEAT 2
HgeneSF3B1chr2:198283233chr14:69347629ENST00000409915-67604_64118388.0RepeatNote=HEAT 3
HgeneSF3B1chr2:198283233chr14:69347629ENST00000409915-67643_67718388.0RepeatNote=HEAT 4
HgeneSF3B1chr2:198283233chr14:69347629ENST00000409915-67680_71818388.0RepeatNote=HEAT 5
HgeneSF3B1chr2:198283233chr14:69347629ENST00000409915-67763_80118388.0RepeatNote=HEAT 6
HgeneSF3B1chr2:198283233chr14:69347629ENST00000409915-67843_88118388.0RepeatNote=HEAT 7
TgeneACTN1chr2:198283233chr14:69347629ENST00000193403021759_7700893.0Calcium bindingOntology_term=ECO:0000255
TgeneACTN1chr2:198283233chr14:69347629ENST00000193403021800_8110893.0Calcium bindingOntology_term=ECO:0000255
TgeneACTN1chr2:198283233chr14:69347629ENST00000394419022759_7700915.0Calcium bindingOntology_term=ECO:0000255
TgeneACTN1chr2:198283233chr14:69347629ENST00000394419022800_8110915.0Calcium bindingOntology_term=ECO:0000255
TgeneACTN1chr2:198283233chr14:69347629ENST00000438964021759_7700888.0Calcium bindingOntology_term=ECO:0000255
TgeneACTN1chr2:198283233chr14:69347629ENST00000438964021800_8110888.0Calcium bindingOntology_term=ECO:0000255
TgeneACTN1chr2:198283233chr14:69347629ENST00000538545021759_7700931.0Calcium bindingOntology_term=ECO:0000255
TgeneACTN1chr2:198283233chr14:69347629ENST00000538545021800_8110931.0Calcium bindingOntology_term=ECO:0000255
TgeneACTN1chr2:198283233chr14:69347629ENST00000193403021144_2500893.0DomainCalponin-homology (CH) 2
TgeneACTN1chr2:198283233chr14:69347629ENST0000019340302131_1350893.0DomainCalponin-homology (CH) 1
TgeneACTN1chr2:198283233chr14:69347629ENST00000193403021746_7810893.0DomainEF-hand 1
TgeneACTN1chr2:198283233chr14:69347629ENST00000193403021787_8220893.0DomainEF-hand 2
TgeneACTN1chr2:198283233chr14:69347629ENST00000394419022144_2500915.0DomainCalponin-homology (CH) 2
TgeneACTN1chr2:198283233chr14:69347629ENST0000039441902231_1350915.0DomainCalponin-homology (CH) 1
TgeneACTN1chr2:198283233chr14:69347629ENST00000394419022746_7810915.0DomainEF-hand 1
TgeneACTN1chr2:198283233chr14:69347629ENST00000394419022787_8220915.0DomainEF-hand 2
TgeneACTN1chr2:198283233chr14:69347629ENST00000438964021144_2500888.0DomainCalponin-homology (CH) 2
TgeneACTN1chr2:198283233chr14:69347629ENST0000043896402131_1350888.0DomainCalponin-homology (CH) 1
TgeneACTN1chr2:198283233chr14:69347629ENST00000438964021746_7810888.0DomainEF-hand 1
TgeneACTN1chr2:198283233chr14:69347629ENST00000438964021787_8220888.0DomainEF-hand 2
TgeneACTN1chr2:198283233chr14:69347629ENST00000538545021144_2500931.0DomainCalponin-homology (CH) 2
TgeneACTN1chr2:198283233chr14:69347629ENST0000053854502131_1350931.0DomainCalponin-homology (CH) 1
TgeneACTN1chr2:198283233chr14:69347629ENST00000538545021746_7810931.0DomainEF-hand 1
TgeneACTN1chr2:198283233chr14:69347629ENST00000538545021787_8220931.0DomainEF-hand 2
TgeneACTN1chr2:198283233chr14:69347629ENST000001934030211_2470893.0RegionNote=Actin-binding
TgeneACTN1chr2:198283233chr14:69347629ENST000003944190221_2470915.0RegionNote=Actin-binding
TgeneACTN1chr2:198283233chr14:69347629ENST000004389640211_2470888.0RegionNote=Actin-binding
TgeneACTN1chr2:198283233chr14:69347629ENST000005385450211_2470931.0RegionNote=Actin-binding
TgeneACTN1chr2:198283233chr14:69347629ENST00000193403021274_3840893.0RepeatNote=Spectrin 1
TgeneACTN1chr2:198283233chr14:69347629ENST00000193403021394_4990893.0RepeatNote=Spectrin 2
TgeneACTN1chr2:198283233chr14:69347629ENST00000193403021509_6200893.0RepeatNote=Spectrin 3
TgeneACTN1chr2:198283233chr14:69347629ENST00000193403021630_7330893.0RepeatNote=Spectrin 4
TgeneACTN1chr2:198283233chr14:69347629ENST00000394419022274_3840915.0RepeatNote=Spectrin 1
TgeneACTN1chr2:198283233chr14:69347629ENST00000394419022394_4990915.0RepeatNote=Spectrin 2
TgeneACTN1chr2:198283233chr14:69347629ENST00000394419022509_6200915.0RepeatNote=Spectrin 3
TgeneACTN1chr2:198283233chr14:69347629ENST00000394419022630_7330915.0RepeatNote=Spectrin 4
TgeneACTN1chr2:198283233chr14:69347629ENST00000438964021274_3840888.0RepeatNote=Spectrin 1
TgeneACTN1chr2:198283233chr14:69347629ENST00000438964021394_4990888.0RepeatNote=Spectrin 2
TgeneACTN1chr2:198283233chr14:69347629ENST00000438964021509_6200888.0RepeatNote=Spectrin 3
TgeneACTN1chr2:198283233chr14:69347629ENST00000438964021630_7330888.0RepeatNote=Spectrin 4
TgeneACTN1chr2:198283233chr14:69347629ENST00000538545021274_3840931.0RepeatNote=Spectrin 1
TgeneACTN1chr2:198283233chr14:69347629ENST00000538545021394_4990931.0RepeatNote=Spectrin 2
TgeneACTN1chr2:198283233chr14:69347629ENST00000538545021509_6200931.0RepeatNote=Spectrin 3
TgeneACTN1chr2:198283233chr14:69347629ENST00000538545021630_7330931.0RepeatNote=Spectrin 4

- In-frame and not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgeneSF3B1chr2:198283233chr14:69347629ENST00000335508-5251010_10481651305.0RepeatNote=HEAT 8
HgeneSF3B1chr2:198283233chr14:69347629ENST00000335508-5251052_10901651305.0RepeatNote=HEAT 9
HgeneSF3B1chr2:198283233chr14:69347629ENST00000335508-5251122_11601651305.0RepeatNote=HEAT 10
HgeneSF3B1chr2:198283233chr14:69347629ENST00000335508-5251163_12011651305.0RepeatNote=HEAT 11
HgeneSF3B1chr2:198283233chr14:69347629ENST00000335508-525569_6031651305.0RepeatNote=HEAT 2
HgeneSF3B1chr2:198283233chr14:69347629ENST00000335508-525604_6411651305.0RepeatNote=HEAT 3
HgeneSF3B1chr2:198283233chr14:69347629ENST00000335508-525643_6771651305.0RepeatNote=HEAT 4
HgeneSF3B1chr2:198283233chr14:69347629ENST00000335508-525680_7181651305.0RepeatNote=HEAT 5
HgeneSF3B1chr2:198283233chr14:69347629ENST00000335508-525763_8011651305.0RepeatNote=HEAT 6
HgeneSF3B1chr2:198283233chr14:69347629ENST00000335508-525843_8811651305.0RepeatNote=HEAT 7
HgeneSF3B1chr2:198283233chr14:69347629ENST00000414963-151010_10480145.0RepeatNote=HEAT 8
HgeneSF3B1chr2:198283233chr14:69347629ENST00000414963-151052_10900145.0RepeatNote=HEAT 9
HgeneSF3B1chr2:198283233chr14:69347629ENST00000414963-151122_11600145.0RepeatNote=HEAT 10
HgeneSF3B1chr2:198283233chr14:69347629ENST00000414963-151163_12010145.0RepeatNote=HEAT 11
HgeneSF3B1chr2:198283233chr14:69347629ENST00000414963-15569_6030145.0RepeatNote=HEAT 2
HgeneSF3B1chr2:198283233chr14:69347629ENST00000414963-15604_6410145.0RepeatNote=HEAT 3
HgeneSF3B1chr2:198283233chr14:69347629ENST00000414963-15643_6770145.0RepeatNote=HEAT 4
HgeneSF3B1chr2:198283233chr14:69347629ENST00000414963-15680_7180145.0RepeatNote=HEAT 5
HgeneSF3B1chr2:198283233chr14:69347629ENST00000414963-15763_8010145.0RepeatNote=HEAT 6
HgeneSF3B1chr2:198283233chr14:69347629ENST00000414963-15843_8810145.0RepeatNote=HEAT 7


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Fusion Gene Sequence for SF3B1-ACTN1


check button For in-frame fusion transcripts, we provide the fusion transcript sequences and fusion amino acid sequences. To have fusion amino acid sequence, we ran ORFfinder and chose the longest ORF among the all predicted ones.
>81044_81044_1_SF3B1-ACTN1_SF3B1_chr2_198283233_ENST00000335508_ACTN1_chr14_69347629_ENST00000193403_length(transcript)=1952nt_BP=587nt
AGTGCAGCCCCCAGCTATTTTTCTCCGTGGCGGCGGCGACGAGCGGAAGTTCTTGGGAGCGCCAGTTCCGTCTGTGTGTTCGAGTGGACA
AAATGGCGAAGATCGCCAAGACTCACGAAGATATTGAAGCACAGATTCGAGAAATTCAAGGCAAGAAGGCAGCTCTTGATGAAGCTCAAG
GAGTGGGCCTCGATTCTACAGGTTATTATGACCAGGAAATTTATGGTGGAAGTGACAGCAGATTTGCTGGATACGTGACATCAATTGCTG
CAACTGAACTTGAAGATGATGACGATGACTATTCATCATCTACGAGTTTGCTTGGTCAGAAGAAGCCAGGATATCATGCCCCTGTGGCAT
TGCTTAATGATATACCACAGTCAACAGAACAGTATGATCCATTTGCTGAGCACAGACCTCCAAAGATTGCAGACCGGGAAGATGAATACA
AAAAGCATAGGCGGACCATGATAATTTCCCCAGAGCGTCTTGATCCTTTTGCAGATGGAGGGAAAACCCCTGATCCTAAAATGAATGCTA
GGACTTACATGGATGTAATGCGAGAACAACACTTGACTAAAGAAGAAAACTACATTACCATGGACGAGCTGCGCCGCGAGCTGCCACCCG
ACCAGGCTGAGTACTGCATCGCGCGGATGGCCCCCTACACCGGCCCCGACTCCGTGCCAGGTGCTCTGGACTACATGTCCTTCTCCACGG
CGCTGTACGGCGAGAGTGACCTCTAATCCACCCCGCCCGGCCGCCCTCGTCTTGTGCGCCGTGCCCTGCCTTGCACCTCCGCCGTCGCCC
ATCTCCTGCCTGGGTTCGGTTTCAGCTCCCAGCCTCCACCCGGGTGAGCTGGGGCCCACGTGGCATCGATCCTCCCTGCCCGCGAAGTGA
CAGTTTACAAAATTATTTTCTGCAAAAAAGAAAAAAAAGTTACGTTAAAAACCAAAAAACTACATATTTTATTATAGAAAAAGTATTTTT
TCTCCACCAGACAAATGGAAAAAAAGAGGAAAGATTAACTATTTGCACCGAAATGTCTTGTTTTGTTGCGACATAGGAAAATAACCAAGC
ACAAAGTTATATTCCATCCTTTTTACTGATTTTTTTTTCTTCTATCTGTTCCATCTGCTGTATTCATTTCTCCAATCTCATGTCCATTTT
GGTGTGGGAGTCGGGGTAGGGGGTACTCTTGTCAAAAGGCACATTGGTGCATGTGTGTTTGCTAGCTCACTTGTCCATGAAAATATTTTA
TGATATTAAAGAAAATCTTTTGAAATGGCTGTTTTTTAAGGAAGAGAATTTATGTGGCTTCTCATTTTTAAATCCCCTCAGAGGTGTGAC
TAGTCTCTTTATCAGCACACACTTAAAAAATTTTTAATATTGTCTATTAAAAATAGGACAAACTTGGAGAGTATGGACAACTTTGATATT
GCTTGGCACAGATGGTATTAAAGGAGAAGCAGAATTTGCCCGCATCATGAGCATTGTGGACCCCAACCGCCTGGGGGTAGTGACATTCCA
GGCCTTCATTGACTTCATGTCCCGCGAGACAGCCGACACAGATACAGCAGACCAAGTCATGGCTTCCTTCAAGATCCTGGCTGGGGACAA
GGATCACTCCGGCACACTGGGTCCCGAGGAGTTCAAAGCCTGCCTCATCAGCTTGGGTTATGATATTGGCAACGACCCCCAGCACATCCG
TGTGGGCTGGGAGCAGCTGCTCACCACCATCGCCAGGACCATCAATGAGGTAGAGAACCAGATCCTGACCCGGGATGCCAAGGGCATCAG
CCAGGAGCAGATGAATGAGTTCCGGGCCTCCTTCAACCACTTTGACCGGCATCGTCAACTACAAGCCAAAGATTGATCAGCTGGAGGGCG

>81044_81044_1_SF3B1-ACTN1_SF3B1_chr2_198283233_ENST00000335508_ACTN1_chr14_69347629_ENST00000193403_length(amino acids)=224AA_BP=
MCVRVDKMAKIAKTHEDIEAQIREIQGKKAALDEAQGVGLDSTGYYDQEIYGGSDSRFAGYVTSIAATELEDDDDDYSSSTSLLGQKKPG
YHAPVALLNDIPQSTEQYDPFAEHRPPKIADREDEYKKHRRTMIISPERLDPFADGGKTPDPKMNARTYMDVMREQHLTKEENYITMDEL

--------------------------------------------------------------
>81044_81044_2_SF3B1-ACTN1_SF3B1_chr2_198283233_ENST00000335508_ACTN1_chr14_69347629_ENST00000376839_length(transcript)=1297nt_BP=587nt
AGTGCAGCCCCCAGCTATTTTTCTCCGTGGCGGCGGCGACGAGCGGAAGTTCTTGGGAGCGCCAGTTCCGTCTGTGTGTTCGAGTGGACA
AAATGGCGAAGATCGCCAAGACTCACGAAGATATTGAAGCACAGATTCGAGAAATTCAAGGCAAGAAGGCAGCTCTTGATGAAGCTCAAG
GAGTGGGCCTCGATTCTACAGGTTATTATGACCAGGAAATTTATGGTGGAAGTGACAGCAGATTTGCTGGATACGTGACATCAATTGCTG
CAACTGAACTTGAAGATGATGACGATGACTATTCATCATCTACGAGTTTGCTTGGTCAGAAGAAGCCAGGATATCATGCCCCTGTGGCAT
TGCTTAATGATATACCACAGTCAACAGAACAGTATGATCCATTTGCTGAGCACAGACCTCCAAAGATTGCAGACCGGGAAGATGAATACA
AAAAGCATAGGCGGACCATGATAATTTCCCCAGAGCGTCTTGATCCTTTTGCAGATGGAGGGAAAACCCCTGATCCTAAAATGAATGCTA
GGACTTACATGGATGTAATGCGAGAACAACACTTGACTAAAGAAGAAAACTACATTACCATGGACGAGCTGCGCCGCGAGCTGCCACCCG
ACCAGGCTGAGTACTGCATCGCGCGGATGGCCCCCTACACCGGCCCCGACTCCGTGCCAGGTGCTCTGGACTACATGTCCTTCTCCACGG
CGCTGTACGGCGAGAGTGACCTCTAATCCACCCCGCCCGGCCGCCCTCGTCTTGTGCGCCGTGCCCTGCCTTGCACCTCCGCCGTCGCCC
ATCTCCTGCCTGGGAGAAGCAGAATTTGCCCGCATCATGAGCATTGTGGACCCCAACCGCCTGGGGGTAGTGACATTCCAGGCCTTCATT
GACTTCATGTCCCGCGAGACAGCCGACACAGATACAGCAGACCAAGTCATGGCTTCCTTCAAGATCCTGGCTGGGGACAAGAAGAAGACA
GGCATGATGGACACGGATGATTTCCGCGCCTGCCTGATCTCCATGGGTTACAACATGCACATCCGTGTGGGCTGGGAGCAGCTGCTCACC
ACCATCGCCAGGACCATCAATGAGGTAGAGAACCAGATCCTGACCCGGGATGCCAAGGGCATCAGCCAGGAGCAGATGAATGAGTTCCGG
GCCTCCTTCAACCACTTTGACCGGCATCGTCAACTACAAGCCAAAGATTGATCAGCTGGAGGGCGACCACCAGCTCATCCAGGAGGCGCT

>81044_81044_2_SF3B1-ACTN1_SF3B1_chr2_198283233_ENST00000335508_ACTN1_chr14_69347629_ENST00000376839_length(amino acids)=224AA_BP=
MCVRVDKMAKIAKTHEDIEAQIREIQGKKAALDEAQGVGLDSTGYYDQEIYGGSDSRFAGYVTSIAATELEDDDDDYSSSTSLLGQKKPG
YHAPVALLNDIPQSTEQYDPFAEHRPPKIADREDEYKKHRRTMIISPERLDPFADGGKTPDPKMNARTYMDVMREQHLTKEENYITMDEL

--------------------------------------------------------------
>81044_81044_3_SF3B1-ACTN1_SF3B1_chr2_198283233_ENST00000335508_ACTN1_chr14_69347629_ENST00000394419_length(transcript)=1838nt_BP=587nt
AGTGCAGCCCCCAGCTATTTTTCTCCGTGGCGGCGGCGACGAGCGGAAGTTCTTGGGAGCGCCAGTTCCGTCTGTGTGTTCGAGTGGACA
AAATGGCGAAGATCGCCAAGACTCACGAAGATATTGAAGCACAGATTCGAGAAATTCAAGGCAAGAAGGCAGCTCTTGATGAAGCTCAAG
GAGTGGGCCTCGATTCTACAGGTTATTATGACCAGGAAATTTATGGTGGAAGTGACAGCAGATTTGCTGGATACGTGACATCAATTGCTG
CAACTGAACTTGAAGATGATGACGATGACTATTCATCATCTACGAGTTTGCTTGGTCAGAAGAAGCCAGGATATCATGCCCCTGTGGCAT
TGCTTAATGATATACCACAGTCAACAGAACAGTATGATCCATTTGCTGAGCACAGACCTCCAAAGATTGCAGACCGGGAAGATGAATACA
AAAAGCATAGGCGGACCATGATAATTTCCCCAGAGCGTCTTGATCCTTTTGCAGATGGAGGGAAAACCCCTGATCCTAAAATGAATGCTA
GGACTTACATGGATGTAATGCGAGAACAACACTTGACTAAAGAAGAAAACTACATTACCATGGACGAGCTGCGCCGCGAGCTGCCACCCG
ACCAGGCTGAGTACTGCATCGCGCGGATGGCCCCCTACACCGGCCCCGACTCCGTGCCAGGTGCTCTGGACTACATGTCCTTCTCCACGG
CGCTGTACGGCGAGAGTGACCTCTAATCCACCCCGCCCGGCCGCCCTCGTCTTGTGCGCCGTGCCCTGCCTTGCACCTCCGCCGTCGCCC
ATCTCCTGCCTGGGTTCGGTTTCAGCTCCCAGCCTCCACCCGGGTGAGCTGGGGCCCACGTGGCATCGATCCTCCCTGCCCGCGAAGTGA
CAGTTTACAAAATTATTTTCTGCAAAAAAGAAAAAAAAGTTACGTTAAAAACCAAAAAACTACATATTTTATTATAGAAAAAGTATTTTT
TCTCCACCAGACAAATGGAAAAAAAGAGGAAAGATTAACTATTTGCACCGAAATGTCTTGTTTTGTTGCGACATAGGAAAATAACCAAGC
ACAAAGTTATATTCCATCCTTTTTACTGATTTTTTTTTCTTCTATCTGTTCCATCTGCTGTATTCATTTCTCCAATCTCATGTCCATTTT
GGTGTGGGAGTCGGGGTAGGGGGTACTCTTGTCAAAAGGCACATTGGTGCATGTGTGTTTGCTAGCTCACTTGTCCATGAAAATATTTTA
TGATATTAAAGAAAATCTTTTGGGAGAAGCAGAATTTGCCCGCATCATGAGCATTGTGGACCCCAACCGCCTGGGGGTAGTGACATTCCA
GGCCTTCATTGACTTCATGTCCCGCGAGACAGCCGACACAGATACAGCAGACCAAGTCATGGCTTCCTTCAAGATCCTGGCTGGGGACAA
GAAGAAGACAGGCATGATGGACACGGATGATTTCCGCGCCTGCCTGATCTCCATGGGTTACAACATGGATCACTCCGGCACACTGGGTCC
CGAGGAGTTCAAAGCCTGCCTCATCAGCTTGGGTTATGATATTGGCAACGACCCCCAGCACATCCGTGTGGGCTGGGAGCAGCTGCTCAC
CACCATCGCCAGGACCATCAATGAGGTAGAGAACCAGATCCTGACCCGGGATGCCAAGGGCATCAGCCAGGAGCAGATGAATGAGTTCCG
GGCCTCCTTCAACCACTTTGACCGGCATCGTCAACTACAAGCCAAAGATTGATCAGCTGGAGGGCGACCACCAGCTCATCCAGGAGGCGC

>81044_81044_3_SF3B1-ACTN1_SF3B1_chr2_198283233_ENST00000335508_ACTN1_chr14_69347629_ENST00000394419_length(amino acids)=224AA_BP=
MCVRVDKMAKIAKTHEDIEAQIREIQGKKAALDEAQGVGLDSTGYYDQEIYGGSDSRFAGYVTSIAATELEDDDDDYSSSTSLLGQKKPG
YHAPVALLNDIPQSTEQYDPFAEHRPPKIADREDEYKKHRRTMIISPERLDPFADGGKTPDPKMNARTYMDVMREQHLTKEENYITMDEL

--------------------------------------------------------------
>81044_81044_4_SF3B1-ACTN1_SF3B1_chr2_198283233_ENST00000335508_ACTN1_chr14_69347629_ENST00000438964_length(transcript)=1394nt_BP=587nt
AGTGCAGCCCCCAGCTATTTTTCTCCGTGGCGGCGGCGACGAGCGGAAGTTCTTGGGAGCGCCAGTTCCGTCTGTGTGTTCGAGTGGACA
AAATGGCGAAGATCGCCAAGACTCACGAAGATATTGAAGCACAGATTCGAGAAATTCAAGGCAAGAAGGCAGCTCTTGATGAAGCTCAAG
GAGTGGGCCTCGATTCTACAGGTTATTATGACCAGGAAATTTATGGTGGAAGTGACAGCAGATTTGCTGGATACGTGACATCAATTGCTG
CAACTGAACTTGAAGATGATGACGATGACTATTCATCATCTACGAGTTTGCTTGGTCAGAAGAAGCCAGGATATCATGCCCCTGTGGCAT
TGCTTAATGATATACCACAGTCAACAGAACAGTATGATCCATTTGCTGAGCACAGACCTCCAAAGATTGCAGACCGGGAAGATGAATACA
AAAAGCATAGGCGGACCATGATAATTTCCCCAGAGCGTCTTGATCCTTTTGCAGATGGAGGGAAAACCCCTGATCCTAAAATGAATGCTA
GGACTTACATGGATGTAATGCGAGAACAACACTTGACTAAAGAAGAAAACTACATTACCATGGACGAGCTGCGCCGCGAGCTGCCACCCG
ACCAGGCTGAGTACTGCATCGCGCGGATGGCCCCCTACACCGGCCCCGACTCCGTGCCAGGTGCTCTGGACTACATGTCCTTCTCCACGG
CGCTGTACGGCGAGAGTGACCTCTAATCCACCCCGCCCGGCCGCCCTCGTCTTGTGCGCCGTGCCCTGCCTTGCACCTCCGCCGTCGCCC
ATCTCCTGCCTGGGTTCGGTTTCAGCTCCCAGCCTCCACCCGGGTGAGCTGGGGCCCACGTGGCATCGATCCTCCCTGCCCGCGAAGTGA
CAGTTTACAAAATTATTTTGGAGAAGCAGAATTTGCCCGCATCATGAGCATTGTGGACCCCAACCGCCTGGGGGTAGTGACATTCCAGGC
CTTCATTGACTTCATGTCCCGCGAGACAGCCGACACAGATACAGCAGACCAAGTCATGGCTTCCTTCAAGATCCTGGCTGGGGACAAGAA
GAAGACAGGCATGATGGACACGGATGATTTCCGCGCCTGCCTGATCTCCATGGGTTACAACATGCACATCCGTGTGGGCTGGGAGCAGCT
GCTCACCACCATCGCCAGGACCATCAATGAGGTAGAGAACCAGATCCTGACCCGGGATGCCAAGGGCATCAGCCAGGAGCAGATGAATGA
GTTCCGGGCCTCCTTCAACCACTTTGACCGGCATCGTCAACTACAAGCCAAAGATTGATCAGCTGGAGGGCGACCACCAGCTCATCCAGG

>81044_81044_4_SF3B1-ACTN1_SF3B1_chr2_198283233_ENST00000335508_ACTN1_chr14_69347629_ENST00000438964_length(amino acids)=224AA_BP=
MCVRVDKMAKIAKTHEDIEAQIREIQGKKAALDEAQGVGLDSTGYYDQEIYGGSDSRFAGYVTSIAATELEDDDDDYSSSTSLLGQKKPG
YHAPVALLNDIPQSTEQYDPFAEHRPPKIADREDEYKKHRRTMIISPERLDPFADGGKTPDPKMNARTYMDVMREQHLTKEENYITMDEL

--------------------------------------------------------------
>81044_81044_5_SF3B1-ACTN1_SF3B1_chr2_198283233_ENST00000335508_ACTN1_chr14_69347629_ENST00000538545_length(transcript)=1350nt_BP=587nt
AGTGCAGCCCCCAGCTATTTTTCTCCGTGGCGGCGGCGACGAGCGGAAGTTCTTGGGAGCGCCAGTTCCGTCTGTGTGTTCGAGTGGACA
AAATGGCGAAGATCGCCAAGACTCACGAAGATATTGAAGCACAGATTCGAGAAATTCAAGGCAAGAAGGCAGCTCTTGATGAAGCTCAAG
GAGTGGGCCTCGATTCTACAGGTTATTATGACCAGGAAATTTATGGTGGAAGTGACAGCAGATTTGCTGGATACGTGACATCAATTGCTG
CAACTGAACTTGAAGATGATGACGATGACTATTCATCATCTACGAGTTTGCTTGGTCAGAAGAAGCCAGGATATCATGCCCCTGTGGCAT
TGCTTAATGATATACCACAGTCAACAGAACAGTATGATCCATTTGCTGAGCACAGACCTCCAAAGATTGCAGACCGGGAAGATGAATACA
AAAAGCATAGGCGGACCATGATAATTTCCCCAGAGCGTCTTGATCCTTTTGCAGATGGAGGGAAAACCCCTGATCCTAAAATGAATGCTA
GGACTTACATGGATGTAATGCGAGAACAACACTTGACTAAAGAAGAATTACAGGAGGGAGGCAAAATGCAAACGGCACATGCTGCCTTCA
CGCCGCCAGGCTTTGCGGCTGTGTCGGGCCGCGCCGCTTTACGGCTGCTGGACTTTGCGGCCTTCCTGACCACTCTCTCCTCGCAGAACT
ACATTACCATGGACGAGCTGCGCCGCGAGCTGCCACCCGACCAGGCTGAGTACTGCATCGCGCGGATGGCCCCCTACACCGGCCCCGACT
CCGTGCCAGGTGCTCTGGACTACATGTCCTTCTCCACGGCGCTGTACGGCGAGAGTGACCTCTAAGGAGAAGCAGAATTTGCCCGCATCA
TGAGCATTGTGGACCCCAACCGCCTGGGGGTAGTGACATTCCAGGCCTTCATTGACTTCATGTCCCGCGAGACAGCCGACACAGATACAG
CAGACCAAGTCATGGCTTCCTTCAAGATCCTGGCTGGGGACAAGAAGAAGACAGGCATGATGGACACGGATGATTTCCGCGCCTGCCTGA
TCTCCATGGGTTACAACATGCACATCCGTGTGGGCTGGGAGCAGCTGCTCACCACCATCGCCAGGACCATCAATGAGGTAGAGAACCAGA
TCCTGACCCGGGATGCCAAGGGCATCAGCCAGGAGCAGATGAATGAGTTCCGGGCCTCCTTCAACCACTTTGACCGGCATCGTCAACTAC
AAGCCAAAGATTGATCAGCTGGAGGGCGACCACCAGCTCATCCAGGAGGCGCTCATCTTCGACAACAAGCACACCAACTACACCATGGAG

>81044_81044_5_SF3B1-ACTN1_SF3B1_chr2_198283233_ENST00000335508_ACTN1_chr14_69347629_ENST00000538545_length(amino acids)=267AA_BP=
MCVRVDKMAKIAKTHEDIEAQIREIQGKKAALDEAQGVGLDSTGYYDQEIYGGSDSRFAGYVTSIAATELEDDDDDYSSSTSLLGQKKPG
YHAPVALLNDIPQSTEQYDPFAEHRPPKIADREDEYKKHRRTMIISPERLDPFADGGKTPDPKMNARTYMDVMREQHLTKEELQEGGKMQ

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

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Fusion Gene PPI Analysis for SF3B1-ACTN1


check button Go to ChiPPI (Chimeric Protein-Protein interactions) to see the chimeric PPI interaction in

ChiPPI page.


check button Protein-protein interactors with each fusion partner protein in wild-type (BIOGRID-3.4.160)
HgeneHgene's interactorsTgeneTgene's interactors


check button - Retained PPIs in in-frame fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenStill interaction with
HgeneSF3B1chr2:198283233chr14:69347629ENST00000409915-671156_1157183.6666666666666688.0PHF5A
HgeneSF3B1chr2:198283233chr14:69347629ENST00000409915-67547_550183.6666666666666688.0PHF5A
HgeneSF3B1chr2:198283233chr14:69347629ENST00000409915-67223_491183.6666666666666688.0PPP1R8
HgeneSF3B1chr2:198283233chr14:69347629ENST00000409915-67529_568183.6666666666666688.0SF3B14
HgeneSF3B1chr2:198283233chr14:69347629ENST00000409915-671248_1304183.6666666666666688.0SF3B3 and SF3B5
TgeneACTN1chr2:198283233chr14:69347629ENST00000193403021274_7330893.0DDN
TgeneACTN1chr2:198283233chr14:69347629ENST00000394419022274_7330915.0DDN
TgeneACTN1chr2:198283233chr14:69347629ENST00000438964021274_7330888.0DDN
TgeneACTN1chr2:198283233chr14:69347629ENST00000538545021274_7330931.0DDN


check button - Lost PPIs in in-frame fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenInteraction lost with
HgeneSF3B1chr2:198283233chr14:69347629ENST00000335508-5251156_1157165.01305.0PHF5A
HgeneSF3B1chr2:198283233chr14:69347629ENST00000335508-525547_550165.01305.0PHF5A
HgeneSF3B1chr2:198283233chr14:69347629ENST00000414963-151156_11570145.0PHF5A
HgeneSF3B1chr2:198283233chr14:69347629ENST00000414963-15547_5500145.0PHF5A
HgeneSF3B1chr2:198283233chr14:69347629ENST00000335508-525223_491165.01305.0PPP1R8
HgeneSF3B1chr2:198283233chr14:69347629ENST00000414963-15223_4910145.0PPP1R8
HgeneSF3B1chr2:198283233chr14:69347629ENST00000335508-525529_568165.01305.0SF3B14
HgeneSF3B1chr2:198283233chr14:69347629ENST00000414963-15529_5680145.0SF3B14
HgeneSF3B1chr2:198283233chr14:69347629ENST00000335508-5251248_1304165.01305.0SF3B3 and SF3B5
HgeneSF3B1chr2:198283233chr14:69347629ENST00000414963-151248_13040145.0SF3B3 and SF3B5


check button - Retained PPIs, but lost function due to frame-shift fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenInteraction lost with


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Related Drugs for SF3B1-ACTN1


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

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Related Diseases for SF3B1-ACTN1


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