FusionGDB Logo

Home

Download

Statistics

Examples

Help

Contact
Center for Computational Systems Medicine
leaf

Fusion Gene Summary

leaf

Fusion Gene ORF analysis

leaf

Fusion Genomic Features

leaf

Fusion Protein Features

leaf

Fusion Gene Sequence

leaf

Fusion Gene PPI analysis

leaf

Related Drugs

leaf

Related Diseases

Fusion gene:PUM2-IST1 (FusionGDB2 ID:70702)

Fusion Gene Summary for PUM2-IST1

check button Fusion gene summary
Fusion gene informationFusion gene name: PUM2-IST1
Fusion gene ID: 70702
HgeneTgene
Gene symbol

PUM2

IST1

Gene ID

23369

9798

Gene namepumilio RNA binding family member 2IST1 factor associated with ESCRT-III
SynonymsPUMH2|PUML2CHMP8|OLC1
Cytomap

2p24.1

16q22.2

Type of geneprotein-codingprotein-coding
Descriptionpumilio homolog 2pumilio-2IST1 homologIST1, ESCRT-III associated factorIST1, endosomal sorting complex required for transport-III componentincreased sodium tolerance 1 homologoverexpressed in lung cancer 1putative MAPK-activating protein PM28
Modification date2020031320200313
UniProtAcc.

P53990

Ensembl transtripts involved in fusion geneENST00000403432, ENST00000536417, 
ENST00000319801, ENST00000338086, 
ENST00000361078, ENST00000420234, 
ENST00000329908, ENST00000378798, 
ENST00000378799, ENST00000535424, 
ENST00000541571, ENST00000544564, 
ENST00000538565, ENST00000538850, 
ENST00000606369, 
Fusion gene scores* DoF score15 X 15 X 8=18008 X 7 X 4=224
# samples 1810
** MAII scorelog2(18/1800*10)=-3.32192809488736
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(10/224*10)=-1.16349873228288
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: PUM2 [Title/Abstract] AND IST1 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointPUM2(20550358)-IST1(71949529), # samples:2
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
HgenePUM2

GO:0010608

posttranscriptional regulation of gene expression

25100735

HgenePUM2

GO:0043488

regulation of mRNA stability

26724866

HgenePUM2

GO:0051983

regulation of chromosome segregation

26724866

HgenePUM2

GO:1900246

positive regulation of RIG-I signaling pathway

25340845

TgeneIST1

GO:0009838

abscission

19129479|19129480

TgeneIST1

GO:0019076

viral release from host cell

19129479

TgeneIST1

GO:0045862

positive regulation of proteolysis

20849418

TgeneIST1

GO:0046745

viral capsid secondary envelopment

19129479


check buttonFusion gene breakpoints across PUM2 (5'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.

check buttonFusion gene breakpoints across IST1 (3'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.

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
ChimerDB4BRCATCGA-D8-A1XK-01APUM2chr2

20550358

-IST1chr16

71949529

+


Top

Fusion Gene ORF analysis for PUM2-IST1

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
5UTR-5UTRENST00000403432ENST00000329908PUM2chr2

20550358

-IST1chr16

71949529

+
5UTR-5UTRENST00000403432ENST00000378798PUM2chr2

20550358

-IST1chr16

71949529

+
5UTR-5UTRENST00000403432ENST00000378799PUM2chr2

20550358

-IST1chr16

71949529

+
5UTR-5UTRENST00000403432ENST00000535424PUM2chr2

20550358

-IST1chr16

71949529

+
5UTR-5UTRENST00000403432ENST00000541571PUM2chr2

20550358

-IST1chr16

71949529

+
5UTR-5UTRENST00000403432ENST00000544564PUM2chr2

20550358

-IST1chr16

71949529

+
5UTR-5UTRENST00000536417ENST00000329908PUM2chr2

20550358

-IST1chr16

71949529

+
5UTR-5UTRENST00000536417ENST00000378798PUM2chr2

20550358

-IST1chr16

71949529

+
5UTR-5UTRENST00000536417ENST00000378799PUM2chr2

20550358

-IST1chr16

71949529

+
5UTR-5UTRENST00000536417ENST00000535424PUM2chr2

20550358

-IST1chr16

71949529

+
5UTR-5UTRENST00000536417ENST00000541571PUM2chr2

20550358

-IST1chr16

71949529

+
5UTR-5UTRENST00000536417ENST00000544564PUM2chr2

20550358

-IST1chr16

71949529

+
5UTR-intronENST00000403432ENST00000538565PUM2chr2

20550358

-IST1chr16

71949529

+
5UTR-intronENST00000403432ENST00000538850PUM2chr2

20550358

-IST1chr16

71949529

+
5UTR-intronENST00000403432ENST00000606369PUM2chr2

20550358

-IST1chr16

71949529

+
5UTR-intronENST00000536417ENST00000538565PUM2chr2

20550358

-IST1chr16

71949529

+
5UTR-intronENST00000536417ENST00000538850PUM2chr2

20550358

-IST1chr16

71949529

+
5UTR-intronENST00000536417ENST00000606369PUM2chr2

20550358

-IST1chr16

71949529

+
intron-5UTRENST00000319801ENST00000329908PUM2chr2

20550358

-IST1chr16

71949529

+
intron-5UTRENST00000319801ENST00000378798PUM2chr2

20550358

-IST1chr16

71949529

+
intron-5UTRENST00000319801ENST00000378799PUM2chr2

20550358

-IST1chr16

71949529

+
intron-5UTRENST00000319801ENST00000535424PUM2chr2

20550358

-IST1chr16

71949529

+
intron-5UTRENST00000319801ENST00000541571PUM2chr2

20550358

-IST1chr16

71949529

+
intron-5UTRENST00000319801ENST00000544564PUM2chr2

20550358

-IST1chr16

71949529

+
intron-5UTRENST00000338086ENST00000329908PUM2chr2

20550358

-IST1chr16

71949529

+
intron-5UTRENST00000338086ENST00000378798PUM2chr2

20550358

-IST1chr16

71949529

+
intron-5UTRENST00000338086ENST00000378799PUM2chr2

20550358

-IST1chr16

71949529

+
intron-5UTRENST00000338086ENST00000535424PUM2chr2

20550358

-IST1chr16

71949529

+
intron-5UTRENST00000338086ENST00000541571PUM2chr2

20550358

-IST1chr16

71949529

+
intron-5UTRENST00000338086ENST00000544564PUM2chr2

20550358

-IST1chr16

71949529

+
intron-5UTRENST00000361078ENST00000329908PUM2chr2

20550358

-IST1chr16

71949529

+
intron-5UTRENST00000361078ENST00000378798PUM2chr2

20550358

-IST1chr16

71949529

+
intron-5UTRENST00000361078ENST00000378799PUM2chr2

20550358

-IST1chr16

71949529

+
intron-5UTRENST00000361078ENST00000535424PUM2chr2

20550358

-IST1chr16

71949529

+
intron-5UTRENST00000361078ENST00000541571PUM2chr2

20550358

-IST1chr16

71949529

+
intron-5UTRENST00000361078ENST00000544564PUM2chr2

20550358

-IST1chr16

71949529

+
intron-5UTRENST00000420234ENST00000329908PUM2chr2

20550358

-IST1chr16

71949529

+
intron-5UTRENST00000420234ENST00000378798PUM2chr2

20550358

-IST1chr16

71949529

+
intron-5UTRENST00000420234ENST00000378799PUM2chr2

20550358

-IST1chr16

71949529

+
intron-5UTRENST00000420234ENST00000535424PUM2chr2

20550358

-IST1chr16

71949529

+
intron-5UTRENST00000420234ENST00000541571PUM2chr2

20550358

-IST1chr16

71949529

+
intron-5UTRENST00000420234ENST00000544564PUM2chr2

20550358

-IST1chr16

71949529

+
intron-intronENST00000319801ENST00000538565PUM2chr2

20550358

-IST1chr16

71949529

+
intron-intronENST00000319801ENST00000538850PUM2chr2

20550358

-IST1chr16

71949529

+
intron-intronENST00000319801ENST00000606369PUM2chr2

20550358

-IST1chr16

71949529

+
intron-intronENST00000338086ENST00000538565PUM2chr2

20550358

-IST1chr16

71949529

+
intron-intronENST00000338086ENST00000538850PUM2chr2

20550358

-IST1chr16

71949529

+
intron-intronENST00000338086ENST00000606369PUM2chr2

20550358

-IST1chr16

71949529

+
intron-intronENST00000361078ENST00000538565PUM2chr2

20550358

-IST1chr16

71949529

+
intron-intronENST00000361078ENST00000538850PUM2chr2

20550358

-IST1chr16

71949529

+
intron-intronENST00000361078ENST00000606369PUM2chr2

20550358

-IST1chr16

71949529

+
intron-intronENST00000420234ENST00000538565PUM2chr2

20550358

-IST1chr16

71949529

+
intron-intronENST00000420234ENST00000538850PUM2chr2

20550358

-IST1chr16

71949529

+
intron-intronENST00000420234ENST00000606369PUM2chr2

20550358

-IST1chr16

71949529

+

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)

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

Top

Fusion Genomic Features for PUM2-IST1


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)
PUM2chr220550357-IST1chr1671949528+7.03E-080.9999999
PUM2chr220550357-IST1chr1671949528+7.03E-080.9999999

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.

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.
genomic feature of top 1%

Top

Fusion Protein Features for PUM2-IST1


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/:20550358/:71949529)
- 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
.IST1

P53990

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: ESCRT-III-like protein involved in specific functions of the ESCRT machinery. Is required for efficient abscission during cytokinesis, but not for HIV-1 budding. The involvement in the MVB pathway is not established. Involved in recruiting VPS4A and/or VPS4B to the midbody of dividing cells (PubMed:19129479, PubMed:19129480). During late anaphase, involved in nuclear envelope reassembly and mitotic spindle disassembly together with the ESCRT-III complex: IST1 acts by mediating the recruitment of SPAST to the nuclear membrane, leading to microtubule severing (PubMed:26040712). Regulates early endosomal tubulation together with the ESCRT-III complex by mediating the recruitment of SPAST (PubMed:23897888). {ECO:0000269|PubMed:19129479, ECO:0000269|PubMed:19129480, ECO:0000269|PubMed:23897888, ECO:0000269|PubMed:26040712}.

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


Top

Fusion Gene Sequence for PUM2-IST1


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.

Top

Fusion Gene PPI Analysis for PUM2-IST1


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


Top

Related Drugs for PUM2-IST1


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

Top

Related Diseases for PUM2-IST1


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