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Center for Computational Systems Medicine
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FusionGeneSummary

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FusionProtFeature

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FusionGeneSequence

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FusionGenePPI

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RelatedDrugs

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RelatedDiseases

Fusion gene ID: 33454

FusionGeneSummary for SF3B2_PTMA

check button Fusion gene summary
Fusion gene informationFusion gene name: SF3B2_PTMA
Fusion gene ID: 33454
HgeneTgene
Gene symbol

SF3B2

PTMA

Gene ID

10992

5757

Gene namesplicing factor 3b subunit 2prothymosin alpha
SynonymsCus1|SAP145|SF3B145|SF3b1|SF3b150TMSA
Cytomap

11q13.1

2q37.1

Type of geneprotein-codingprotein-coding
Descriptionsplicing factor 3B subunit 2SAP 145pre-mRNA splicing factor SF3b 145 kDa subunitspliceosome associated protein 145splicing factor 3b, subunit 2, 145kDsplicing factor 3b, subunit 2, 145kDaprothymosin alphagene sequence 28prothymosin alpha proteinprothymosin-I+/-
Modification date2018052320180522
UniProtAcc

Q13435

P06454

Ensembl transtripts involved in fusion geneENST00000534307, ENST00000528302, 
ENST00000322535, 
ENST00000466801, 
ENST00000409321, ENST00000409115, 
ENST00000341369, ENST00000409683, 
ENST00000410064, 
Fusion gene scores* DoF score8 X 9 X 3=21617 X 17 X 2=578
# samples 1118
** MAII scorelog2(11/216*10)=-0.973527788638809
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(18/578*10)=-1.683072586171
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: SF3B2 [Title/Abstract] AND PTMA [Title/Abstract] AND fusion [Title/Abstract]

Functional or gene categories assigned by FusionGDB annotation
* 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 button Fusion gene information from three resources
(ChiTars (NAR, 2018), tumorfusions (NAR, 2018), Gao et al. (Cell, 2018))
* 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.
Data typeSourceCancer typeSampleHgeneHchrHbpHstrandTgeneTchrTbpTstrand
ChiTaRS3.1BG164388SF3B2chr11

65826433

+PTMAchr2

232576624

+
* LD: Li Ding group's fusion gene list
  RV: Roel Verhaak group's fusion gene list
  ChiTaRs fusion database

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
intron-3UTRENST00000534307ENST00000466801SF3B2chr11

65826433

+PTMAchr2

232576624

+
intron-3UTRENST00000534307ENST00000409321SF3B2chr11

65826433

+PTMAchr2

232576624

+
intron-3UTRENST00000534307ENST00000409115SF3B2chr11

65826433

+PTMAchr2

232576624

+
intron-3UTRENST00000534307ENST00000341369SF3B2chr11

65826433

+PTMAchr2

232576624

+
intron-3UTRENST00000534307ENST00000409683SF3B2chr11

65826433

+PTMAchr2

232576624

+
intron-3UTRENST00000534307ENST00000410064SF3B2chr11

65826433

+PTMAchr2

232576624

+
5CDS-3UTRENST00000528302ENST00000466801SF3B2chr11

65826433

+PTMAchr2

232576624

+
5CDS-3UTRENST00000528302ENST00000409321SF3B2chr11

65826433

+PTMAchr2

232576624

+
5CDS-3UTRENST00000528302ENST00000409115SF3B2chr11

65826433

+PTMAchr2

232576624

+
5CDS-3UTRENST00000528302ENST00000341369SF3B2chr11

65826433

+PTMAchr2

232576624

+
5CDS-3UTRENST00000528302ENST00000409683SF3B2chr11

65826433

+PTMAchr2

232576624

+
5CDS-3UTRENST00000528302ENST00000410064SF3B2chr11

65826433

+PTMAchr2

232576624

+
5CDS-3UTRENST00000322535ENST00000466801SF3B2chr11

65826433

+PTMAchr2

232576624

+
5CDS-3UTRENST00000322535ENST00000409321SF3B2chr11

65826433

+PTMAchr2

232576624

+
5CDS-3UTRENST00000322535ENST00000409115SF3B2chr11

65826433

+PTMAchr2

232576624

+
5CDS-3UTRENST00000322535ENST00000341369SF3B2chr11

65826433

+PTMAchr2

232576624

+
5CDS-3UTRENST00000322535ENST00000409683SF3B2chr11

65826433

+PTMAchr2

232576624

+
5CDS-3UTRENST00000322535ENST00000410064SF3B2chr11

65826433

+PTMAchr2

232576624

+

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FusionProtFeatures for SF3B2_PTMA


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
SF3B2

Q13435

PTMA

P06454

Involved in pre-mRNA splicing as a component of thesplicing factor SF3B complex (PubMed:27720643). SF3B complex isrequired for 'A' complex assembly formed by the stable binding ofU2 snRNP to the branchpoint sequence (BPS) in pre-mRNA. Sequenceindependent binding of SF3A/SF3B complex upstream of the branchsite is essential, it may anchor U2 snRNP to the pre-mRNA(PubMed:12234937). May also be involved in the assembly of the 'E'complex (PubMed:10882114). Belongs also to the minor U12-dependentspliceosome, which is involved in the splicing of rare class ofnuclear pre-mRNA intron (PubMed:15146077).{ECO:0000269|PubMed:10882114, ECO:0000269|PubMed:12234937,ECO:0000269|PubMed:15146077, ECO:0000269|PubMed:27720643}. Prothymosin alpha may mediate immune function byconferring resistance to certain opportunistic infections.

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

- In-frame and not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note


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FusionGeneSequence for SF3B2_PTMA


check button For in-frame fusion transcripts, we provide the fusion transcript sequences and fusion amino acid sequences.
(nt: nucleotides, aa: amino acids)

* Fusion amino acid sequences.

* Fusion transcript sequences (only coding sequence (CDS) region).

* Fusion transcript sequences (Full-length transcript).

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FusionGenePPI for SF3B2_PTMA


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


check button - Lost PPIs in in-frame fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenInteraction lost with


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


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RelatedDrugs for SF3B2_PTMA


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.0 2018-04-02)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status

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RelatedDiseases for SF3B2_PTMA


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
TgenePTMAC0001430Adenoma1CTD_human
TgenePTMAC0015695Fatty Liver1CTD_human
TgenePTMAC0024121Lung Neoplasms1CTD_human
TgenePTMAC0035412Rhabdomyosarcoma1CTD_human