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:GULP1-PMS1 (FusionGDB2 ID:35379)

Fusion Gene Summary for GULP1-PMS1

check button Fusion gene summary
Fusion gene informationFusion gene name: GULP1-PMS1
Fusion gene ID: 35379
HgeneTgene
Gene symbol

GULP1

PMS1

Gene ID

51454

5378

Gene nameGULP PTB domain containing engulfment adaptor 1PMS1 homolog 1, mismatch repair system component
SynonymsCED-6|CED6|GULPHNPCC3|MLH2|PMSL1|hPMS1
Cytomap

2q32.1-q32.2

2q32.2

Type of geneprotein-codingprotein-coding
DescriptionPTB domain-containing engulfment adapter protein 1GULP, engulfment adaptor PTB domain containing 1PTB domain adapter protein CED-6PTB domain adaptor protein CED-6cell death protein 6 homologengulfment adapter proteinPMS1 protein homolog 1DNA mismatch repair protein PMS1PMS1 postmeiotic segregation increased 1human homolog of yeast mutLmismatch repair gene PMSL1rhabdomyosarcoma antigen MU-RMS-40.10Brhabdomyosarcoma antigen MU-RMS-40.10E
Modification date2020031320200327
UniProtAcc

Q9UBP9

PMS1

Ensembl transtripts involved in fusion geneENST00000479019, ENST00000359135, 
ENST00000409580, ENST00000409609, 
ENST00000409637, ENST00000409805, 
ENST00000409830, ENST00000409843, 
ENST00000410051, 		ENST00000409823, 
ENST00000418224, ENST00000441310, 
ENST00000421722, ENST00000374826, 
ENST00000409985, ENST00000432292, 
ENST00000447232, 
Fusion gene scores* DoF score12 X 10 X 6=72011 X 6 X 7=462
# samples 1211
** MAII scorelog2(12/720*10)=-2.58496250072116
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(11/462*10)=-2.0703893278914
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: GULP1 [Title/Abstract] AND PMS1 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointGULP1(189248616)-PMS1(190728469), # 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
HgeneGULP1

GO:0006911

phagocytosis, engulfment

11729193


check buttonFusion gene breakpoints across GULP1 (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 PMS1 (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
ChimerDB4STADTCGA-CD-5799-01AGULP1chr2

189248616

+PMS1chr2

190728469

+


Top

Fusion Gene ORF analysis for GULP1-PMS1

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-3CDSENST00000479019ENST00000409823GULP1chr2

189248616

+PMS1chr2

190728469

+
3UTR-3CDSENST00000479019ENST00000418224GULP1chr2

189248616

+PMS1chr2

190728469

+
3UTR-3CDSENST00000479019ENST00000441310GULP1chr2

189248616

+PMS1chr2

190728469

+
3UTR-3UTRENST00000479019ENST00000421722GULP1chr2

189248616

+PMS1chr2

190728469

+
3UTR-intronENST00000479019ENST00000374826GULP1chr2

189248616

+PMS1chr2

190728469

+
3UTR-intronENST00000479019ENST00000409985GULP1chr2

189248616

+PMS1chr2

190728469

+
3UTR-intronENST00000479019ENST00000432292GULP1chr2

189248616

+PMS1chr2

190728469

+
3UTR-intronENST00000479019ENST00000447232GULP1chr2

189248616

+PMS1chr2

190728469

+
5UTR-3CDSENST00000359135ENST00000409823GULP1chr2

189248616

+PMS1chr2

190728469

+
5UTR-3CDSENST00000359135ENST00000418224GULP1chr2

189248616

+PMS1chr2

190728469

+
5UTR-3CDSENST00000359135ENST00000441310GULP1chr2

189248616

+PMS1chr2

190728469

+
5UTR-3CDSENST00000409580ENST00000409823GULP1chr2

189248616

+PMS1chr2

190728469

+
5UTR-3CDSENST00000409580ENST00000418224GULP1chr2

189248616

+PMS1chr2

190728469

+
5UTR-3CDSENST00000409580ENST00000441310GULP1chr2

189248616

+PMS1chr2

190728469

+
5UTR-3CDSENST00000409609ENST00000409823GULP1chr2

189248616

+PMS1chr2

190728469

+
5UTR-3CDSENST00000409609ENST00000418224GULP1chr2

189248616

+PMS1chr2

190728469

+
5UTR-3CDSENST00000409609ENST00000441310GULP1chr2

189248616

+PMS1chr2

190728469

+
5UTR-3CDSENST00000409637ENST00000409823GULP1chr2

189248616

+PMS1chr2

190728469

+
5UTR-3CDSENST00000409637ENST00000418224GULP1chr2

189248616

+PMS1chr2

190728469

+
5UTR-3CDSENST00000409637ENST00000441310GULP1chr2

189248616

+PMS1chr2

190728469

+
5UTR-3CDSENST00000409805ENST00000409823GULP1chr2

189248616

+PMS1chr2

190728469

+
5UTR-3CDSENST00000409805ENST00000418224GULP1chr2

189248616

+PMS1chr2

190728469

+
5UTR-3CDSENST00000409805ENST00000441310GULP1chr2

189248616

+PMS1chr2

190728469

+
5UTR-3CDSENST00000409830ENST00000409823GULP1chr2

189248616

+PMS1chr2

190728469

+
5UTR-3CDSENST00000409830ENST00000418224GULP1chr2

189248616

+PMS1chr2

190728469

+
5UTR-3CDSENST00000409830ENST00000441310GULP1chr2

189248616

+PMS1chr2

190728469

+
5UTR-3CDSENST00000409843ENST00000409823GULP1chr2

189248616

+PMS1chr2

190728469

+
5UTR-3CDSENST00000409843ENST00000418224GULP1chr2

189248616

+PMS1chr2

190728469

+
5UTR-3CDSENST00000409843ENST00000441310GULP1chr2

189248616

+PMS1chr2

190728469

+
5UTR-3CDSENST00000410051ENST00000409823GULP1chr2

189248616

+PMS1chr2

190728469

+
5UTR-3CDSENST00000410051ENST00000418224GULP1chr2

189248616

+PMS1chr2

190728469

+
5UTR-3CDSENST00000410051ENST00000441310GULP1chr2

189248616

+PMS1chr2

190728469

+
5UTR-3UTRENST00000359135ENST00000421722GULP1chr2

189248616

+PMS1chr2

190728469

+
5UTR-3UTRENST00000409580ENST00000421722GULP1chr2

189248616

+PMS1chr2

190728469

+
5UTR-3UTRENST00000409609ENST00000421722GULP1chr2

189248616

+PMS1chr2

190728469

+
5UTR-3UTRENST00000409637ENST00000421722GULP1chr2

189248616

+PMS1chr2

190728469

+
5UTR-3UTRENST00000409805ENST00000421722GULP1chr2

189248616

+PMS1chr2

190728469

+
5UTR-3UTRENST00000409830ENST00000421722GULP1chr2

189248616

+PMS1chr2

190728469

+
5UTR-3UTRENST00000409843ENST00000421722GULP1chr2

189248616

+PMS1chr2

190728469

+
5UTR-3UTRENST00000410051ENST00000421722GULP1chr2

189248616

+PMS1chr2

190728469

+
5UTR-intronENST00000359135ENST00000374826GULP1chr2

189248616

+PMS1chr2

190728469

+
5UTR-intronENST00000359135ENST00000409985GULP1chr2

189248616

+PMS1chr2

190728469

+
5UTR-intronENST00000359135ENST00000432292GULP1chr2

189248616

+PMS1chr2

190728469

+
5UTR-intronENST00000359135ENST00000447232GULP1chr2

189248616

+PMS1chr2

190728469

+
5UTR-intronENST00000409580ENST00000374826GULP1chr2

189248616

+PMS1chr2

190728469

+
5UTR-intronENST00000409580ENST00000409985GULP1chr2

189248616

+PMS1chr2

190728469

+
5UTR-intronENST00000409580ENST00000432292GULP1chr2

189248616

+PMS1chr2

190728469

+
5UTR-intronENST00000409580ENST00000447232GULP1chr2

189248616

+PMS1chr2

190728469

+
5UTR-intronENST00000409609ENST00000374826GULP1chr2

189248616

+PMS1chr2

190728469

+
5UTR-intronENST00000409609ENST00000409985GULP1chr2

189248616

+PMS1chr2

190728469

+
5UTR-intronENST00000409609ENST00000432292GULP1chr2

189248616

+PMS1chr2

190728469

+
5UTR-intronENST00000409609ENST00000447232GULP1chr2

189248616

+PMS1chr2

190728469

+
5UTR-intronENST00000409637ENST00000374826GULP1chr2

189248616

+PMS1chr2

190728469

+
5UTR-intronENST00000409637ENST00000409985GULP1chr2

189248616

+PMS1chr2

190728469

+
5UTR-intronENST00000409637ENST00000432292GULP1chr2

189248616

+PMS1chr2

190728469

+
5UTR-intronENST00000409637ENST00000447232GULP1chr2

189248616

+PMS1chr2

190728469

+
5UTR-intronENST00000409805ENST00000374826GULP1chr2

189248616

+PMS1chr2

190728469

+
5UTR-intronENST00000409805ENST00000409985GULP1chr2

189248616

+PMS1chr2

190728469

+
5UTR-intronENST00000409805ENST00000432292GULP1chr2

189248616

+PMS1chr2

190728469

+
5UTR-intronENST00000409805ENST00000447232GULP1chr2

189248616

+PMS1chr2

190728469

+
5UTR-intronENST00000409830ENST00000374826GULP1chr2

189248616

+PMS1chr2

190728469

+
5UTR-intronENST00000409830ENST00000409985GULP1chr2

189248616

+PMS1chr2

190728469

+
5UTR-intronENST00000409830ENST00000432292GULP1chr2

189248616

+PMS1chr2

190728469

+
5UTR-intronENST00000409830ENST00000447232GULP1chr2

189248616

+PMS1chr2

190728469

+
5UTR-intronENST00000409843ENST00000374826GULP1chr2

189248616

+PMS1chr2

190728469

+
5UTR-intronENST00000409843ENST00000409985GULP1chr2

189248616

+PMS1chr2

190728469

+
5UTR-intronENST00000409843ENST00000432292GULP1chr2

189248616

+PMS1chr2

190728469

+
5UTR-intronENST00000409843ENST00000447232GULP1chr2

189248616

+PMS1chr2

190728469

+
5UTR-intronENST00000410051ENST00000374826GULP1chr2

189248616

+PMS1chr2

190728469

+
5UTR-intronENST00000410051ENST00000409985GULP1chr2

189248616

+PMS1chr2

190728469

+
5UTR-intronENST00000410051ENST00000432292GULP1chr2

189248616

+PMS1chr2

190728469

+
5UTR-intronENST00000410051ENST00000447232GULP1chr2

189248616

+PMS1chr2

190728469

+

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 GULP1-PMS1


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)
GULP1chr2189248616+PMS1chr2190728468+0.025874910.9741251
GULP1chr2189248616+PMS1chr2190728468+0.025874910.9741251

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 GULP1-PMS1


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/:189248616/:190728469)
- 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
GULP1

Q9UBP9

PMS1

PMS1

FUNCTION: May function as an adapter protein. Required for efficient phagocytosis of apoptotic cells. Modulates cellular glycosphingolipid and cholesterol transport. May play a role in the internalization and endosomal trafficking of various LRP1 ligands, such as PSAP. Increases cellular levels of GTP-bound ARF6. {ECO:0000269|PubMed:10574763, ECO:0000269|PubMed:10574771, ECO:0000269|PubMed:16497666, ECO:0000269|PubMed:17398097}.932

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 GULP1-PMS1


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 GULP1-PMS1


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 GULP1-PMS1


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 GULP1-PMS1


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