UTHEALTH HOME    ABOUT SBMI    A-Z    WEBMAIL    INSIDE THE UNIVERSITY
FusionGDB Logo

Home

Download

Statistics

Examples

Help

Contact

Terms of Use
Center for Computational Systems Medicine level1
leaf

Fusion Gene Summary

leaf

Fusion Gene Sample Information

leaf

Fusion ORF Analysis

leaf

Fusion Amino Acid Sequences

leaf

Fusion Protein Functional Features

leaf

Fusion Protein-Protein Interaction

leaf

Related drugs with this fusion protein

leaf

Related disease with this fusion protein

Fusion Protein:SF3B1-ACTN1

Fusion Protein Summary

check button Fusion gene summary
Fusion partner gene informationFusion gene name: SF3B1-ACTN1
FusionPDB ID: 81044
FusionGDB2.0 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 geneENST idsENST00000409915, ENST00000335508, 
ENST00000414963, ENST00000462613, 
ENST00000487698, 		ENST00000193403, 
ENST00000376839, ENST00000394419, 
ENST00000438964, ENST00000538545, 
ENST00000554508, 
Fusion gene scores for assessment (based on all fusion genes of FusionGDB 2.0)* 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 (manual curation of fusion genes in FusionPDB)

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

Most frequent breakpoint (based on all fusion genes of FusionGDB 2.0)SF3B1(198283233)-ACTN1(69347629), # samples:1
Anticipated loss of major functional domain due to fusion event.SF3B1-ACTN1 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.
SF3B1-ACTN1 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.
SF3B1-ACTN1 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.
SF3B1-ACTN1 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
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


Top

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
ChimerDB4STADTCGA-D7-6822-01ASF3B1chr2

198283233

-ACTN1chr14

69347629

-


Top

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)
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

Top

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

>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(amino acids)=224AA_BP=
MCVRVDKMAKIAKTHEDIEAQIREIQGKKAALDEAQGVGLDSTGYYDQEIYGGSDSRFAGYVTSIAATELEDDDDDYSSSTSLLGQKKPG
YHAPVALLNDIPQSTEQYDPFAEHRPPKIADREDEYKKHRRTMIISPERLDPFADGGKTPDPKMNARTYMDVMREQHLTKEENYITMDEL

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

>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(amino acids)=224AA_BP=
MCVRVDKMAKIAKTHEDIEAQIREIQGKKAALDEAQGVGLDSTGYYDQEIYGGSDSRFAGYVTSIAATELEDDDDDYSSSTSLLGQKKPG
YHAPVALLNDIPQSTEQYDPFAEHRPPKIADREDEYKKHRRTMIISPERLDPFADGGKTPDPKMNARTYMDVMREQHLTKEENYITMDEL

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

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

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

Top

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/chr2:198283233/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: 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.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.
- Retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgeneSF3B1chr2:198283233chr14:69347629ENST00000409915-671010_1048183.6666666666666688.0RepeatNote=HEAT 8
HgeneSF3B1chr2:198283233chr14:69347629ENST00000409915-671052_1090183.6666666666666688.0RepeatNote=HEAT 9
HgeneSF3B1chr2:198283233chr14:69347629ENST00000409915-671122_1160183.6666666666666688.0RepeatNote=HEAT 10
HgeneSF3B1chr2:198283233chr14:69347629ENST00000409915-671163_1201183.6666666666666688.0RepeatNote=HEAT 11
HgeneSF3B1chr2:198283233chr14:69347629ENST00000409915-67569_603183.6666666666666688.0RepeatNote=HEAT 2
HgeneSF3B1chr2:198283233chr14:69347629ENST00000409915-67604_641183.6666666666666688.0RepeatNote=HEAT 3
HgeneSF3B1chr2:198283233chr14:69347629ENST00000409915-67643_677183.6666666666666688.0RepeatNote=HEAT 4
HgeneSF3B1chr2:198283233chr14:69347629ENST00000409915-67680_718183.6666666666666688.0RepeatNote=HEAT 5
HgeneSF3B1chr2:198283233chr14:69347629ENST00000409915-67763_801183.6666666666666688.0RepeatNote=HEAT 6
HgeneSF3B1chr2:198283233chr14:69347629ENST00000409915-67843_881183.6666666666666688.0RepeatNote=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

- Not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgeneSF3B1chr2:198283233chr14:69347629ENST00000335508-5251010_1048165.01305.0RepeatNote=HEAT 8
HgeneSF3B1chr2:198283233chr14:69347629ENST00000335508-5251052_1090165.01305.0RepeatNote=HEAT 9
HgeneSF3B1chr2:198283233chr14:69347629ENST00000335508-5251122_1160165.01305.0RepeatNote=HEAT 10
HgeneSF3B1chr2:198283233chr14:69347629ENST00000335508-5251163_1201165.01305.0RepeatNote=HEAT 11
HgeneSF3B1chr2:198283233chr14:69347629ENST00000335508-525569_603165.01305.0RepeatNote=HEAT 2
HgeneSF3B1chr2:198283233chr14:69347629ENST00000335508-525604_641165.01305.0RepeatNote=HEAT 3
HgeneSF3B1chr2:198283233chr14:69347629ENST00000335508-525643_677165.01305.0RepeatNote=HEAT 4
HgeneSF3B1chr2:198283233chr14:69347629ENST00000335508-525680_718165.01305.0RepeatNote=HEAT 5
HgeneSF3B1chr2:198283233chr14:69347629ENST00000335508-525763_801165.01305.0RepeatNote=HEAT 6
HgeneSF3B1chr2:198283233chr14:69347629ENST00000335508-525843_881165.01305.0RepeatNote=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


Top

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
SF3B1
ACTN1


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
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


Top

Related Drugs to SF3B1-ACTN1


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

Top

Related Diseases to SF3B1-ACTN1


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