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Center for Computational Systems Medicine level1
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Fusion Gene Summary

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Fusion Gene Sample Information

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Fusion ORF Analysis

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Fusion Amino Acid Sequences

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Fusion Protein Functional Features

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Fusion Protein-Protein Interaction

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Related drugs with this fusion protein

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Related disease with this fusion protein

Fusion Protein:FUCA2-FIP1L1

Fusion Protein Summary

check button Fusion gene summary
Fusion partner gene informationFusion gene name: FUCA2-FIP1L1
FusionPDB ID: 31765
FusionGDB2.0 ID: 31765
HgeneTgene
Gene symbol

FUCA2

FIP1L1

Gene ID

2519

81608

Gene namealpha-L-fucosidase 2factor interacting with PAPOLA and CPSF1
SynonymsdJ20N2.5FIP1|Rhe|hFip1
Cytomap

6q24.2

4q12

Type of geneprotein-codingprotein-coding
Descriptionplasma alpha-L-fucosidaseI+/--L-fucosidase 2a-L-fucosidase 2alpha-L-fucoside fucohydrolase 2fucosidase, alpha-L- 2, plasmaplasma fucosidasepre-mRNA 3'-end-processing factor FIP1FIP1 like 1FIP1-like 1 proteinFIP1L1 cleavage and polyadenylation specific factor subunitfactor interacting with PAPrearranged in hypereosinophilia
Modification date2020031320200313
UniProtAcc

Q9BTY2

Q6UN15

Ensembl transtripts involved in fusion geneENST idsENST00000002165, ENST00000438118, 
ENST00000367585, 
ENST00000510668, 
ENST00000306932, ENST00000337488, 
ENST00000358575, ENST00000507166, 
ENST00000507922, 
Fusion gene scores for assessment (based on all fusion genes of FusionGDB 2.0)* DoF score5 X 5 X 3=7517 X 15 X 11=2805
# samples 523
** MAII scorelog2(5/75*10)=-0.584962500721156
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(23/2805*10)=-3.60829500455178
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context (manual curation of fusion genes in FusionPDB)

PubMed: FUCA2 [Title/Abstract] AND FIP1L1 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpoint (based on all fusion genes of FusionGDB 2.0)FUCA2(143828374)-FIP1L1(54265897), # samples:1
Anticipated loss of major functional domain due to fusion event.FUCA2-FIP1L1 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.
FUCA2-FIP1L1 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.
FUCA2-FIP1L1 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.
FUCA2-FIP1L1 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.
FUCA2-FIP1L1 seems lost the major protein functional domain in Tgene partner, which is a CGC due to the frame-shifted ORF.
FUCA2-FIP1L1 seems lost the major protein functional domain in Tgene partner, which is a essential gene due to the frame-shifted 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
HgeneFUCA2

GO:0006004

fucose metabolic process

19666478

HgeneFUCA2

GO:0016139

glycoside catabolic process

19666478


check buttonFusion gene breakpoints across FUCA2 (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 FIP1L1 (3'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.
all structure


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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-HU-A4HB-01AFUCA2chr6

143828374

-FIP1L1chr4

54265897

+


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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)
ENST00000438118FUCA2chr6143828374-ENST00000507166FIP1L1chr454265897+22854404342284617
ENST00000438118FUCA2chr6143828374-ENST00000358575FIP1L1chr454265897+17664404341546370
ENST00000438118FUCA2chr6143828374-ENST00000337488FIP1L1chr454265897+17394404341519361
ENST00000438118FUCA2chr6143828374-ENST00000507922FIP1L1chr454265897+94744016501161
ENST00000438118FUCA2chr6143828374-ENST00000306932FIP1L1chr454265897+15844404341411325

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
ENST00000438118ENST00000507166FUCA2chr6143828374-FIP1L1chr454265897+0.0031635630.9968364
ENST00000438118ENST00000358575FUCA2chr6143828374-FIP1L1chr454265897+0.0167350170.983265
ENST00000438118ENST00000337488FUCA2chr6143828374-FIP1L1chr454265897+0.0220382770.9779618
ENST00000438118ENST00000507922FUCA2chr6143828374-FIP1L1chr454265897+0.044387970.955612
ENST00000438118ENST00000306932FUCA2chr6143828374-FIP1L1chr454265897+0.0161107930.9838892

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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

>31765_31765_1_FUCA2-FIP1L1_FUCA2_chr6_143828374_ENST00000438118_FIP1L1_chr4_54265897_ENST00000306932_length(amino acids)=325AA_BP=1
MKVQQGRTGNSEKETALPSTKAEFTSPPSLFKTGLPPSRRLPGAIDVIGQTITISRVEGRRRANENSNIQVLSERSATEVDNNFSKPPPF
FPPGAPPTHLPPPPFLPPPPTVSTAPPLIPPPGFPPPPGAPPPSLIPTIESGHSSGYDSRSARAFPYGNVAFPHLPGSAPSWPSLVDTSK
QWDYYARREKDRDRERDRDRERDRDRDRERERTRERERERDHSPTPSVFNSDEERYRYREYAERGYERHRASREKEERHRERRHREKEET

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

>31765_31765_2_FUCA2-FIP1L1_FUCA2_chr6_143828374_ENST00000438118_FIP1L1_chr4_54265897_ENST00000337488_length(amino acids)=361AA_BP=1
MKVQQGRTGNSEKETALPSTKAEFTSPPSLFKTGLPPSRNSTSSQSQTSTASRKANSSVGKWQDRYGRAESPDLRRLPGAIDVIGQTITI
SRVEGRRRANENSNIQVLSERSATEVDNNFSKPPPFFPPGAPPTHLPPPPFLPPPPTVSTAPPLIPPPGFPPPPGAPPPSLIPTIESGHS
SGYDSRSARAFPYGNVAFPHLPGSAPSWPSLVDTSKQWDYYARREKDRDRERDRDRERDRDRDRERERTRERERERDHSPTPSVFNSDEE
RYRYREYAERGYERHRASREKEERHRERRHREKEETRHKSSRSNSRRRHESEEGDSHRRHKHKKSKRSKEGKEAGSEPAPEQESTEATPA

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

>31765_31765_3_FUCA2-FIP1L1_FUCA2_chr6_143828374_ENST00000438118_FIP1L1_chr4_54265897_ENST00000358575_length(amino acids)=370AA_BP=1
MKVQQGRTGNSEKETALPSTKAEFTSPPSLFKTGLPPSRNSTSSQSQTSTASRKANSSVGKWQDRYGRAESPDLRRLPGAIDVIGQTITI
SRVEGRRRANENSNIQVLSERSATEVDNNFSKPPPFFPPGAPPTHLPPPPFLPPPPTVSTAPPLIPPPGIPITVPPPGFPPPPGAPPPSL
IPTIESGHSSGYDSRSARAFPYGNVAFPHLPGSAPSWPSLVDTSKQWDYYARREKDRDRERDRDRERDRDRDRERERTRERERERDHSPT
PSVFNSDEERYRYREYAERGYERHRASREKEERHRERRHREKEETRHKSSRSNSRRRHESEEGDSHRRHKHKKSKRSKEGKEAGSEPAPE

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

>31765_31765_4_FUCA2-FIP1L1_FUCA2_chr6_143828374_ENST00000438118_FIP1L1_chr4_54265897_ENST00000507166_length(amino acids)=617AA_BP=1
MKVQQGRTGNSEKETALPSTKAEFTSPPSLFKTGLPPSRNSTSSQSQTSTASRKANSSVGKWQDRYGRAESPDLRRLPGAIDVIGQTITI
SRVEGRRRANENSNIQLPYDSRWEFPRDGLVLGRVLGSGAFGKVVEGTAYGLSRSQPVMKVAVKMLKPTARSSEKQALMSELKIMTHLGP
HLNIVNLLGACTKSGPIYIITEYCFYGDLVNYLHKNRDSFLSHHPEKPKKELDIFGLNPADESTRSYVILSFENNGDYMDMKQADTTQYV
PMLERKEVSKYSDIQRSLYDRPASYKKKSMLDSEVKNLLSDDNSEGLTLLDLLSFTYQVARGMEFLASKNCVHRDLAARNVLLAQGKIVK
ICDFGLARDIMHDSNYVSKGSTFLPVKWMAPESIFDNLYTTLSDVWSYGILLWEIFSLGGTPYPGMMVDSTFYNKIKSGYRMAKPDHATS
EVYEIMVKCWNSEPEKRPSFYHLSEIVENLLPGQYKKSYEKIHLDFLKSDHPAVARMRVDSDNAYIGVTYKNEEDKLKDWEGGLDEQRLS

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

>31765_31765_5_FUCA2-FIP1L1_FUCA2_chr6_143828374_ENST00000438118_FIP1L1_chr4_54265897_ENST00000507922_length(amino acids)=161AA_BP=141
MRRDMRPQELPRLAFPLLLLLLLLLPPPPCPAHSATRFDPTWESLDARQLPAWFDQAKFGIFIHWGVFSVPSFGSEWFWWYWQKEKIPKY

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

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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/chr6:143828374/chr4:54265897)
- 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
FUCA2

Q9BTY2

FIP1L1

Q6UN15

FUNCTION: Alpha-L-fucosidase is responsible for hydrolyzing the alpha-1,6-linked fucose joined to the reducing-end N-acetylglucosamine of the carbohydrate moieties of glycoproteins.FUNCTION: Component of the cleavage and polyadenylation specificity factor (CPSF) complex that plays a key role in pre-mRNA 3'-end formation, recognizing the AAUAAA signal sequence and interacting with poly(A) polymerase and other factors to bring about cleavage and poly(A) addition. FIP1L1 contributes to poly(A) site recognition and stimulates poly(A) addition. Binds to U-rich RNA sequence elements surrounding the poly(A) site. May act to tether poly(A) polymerase to the CPSF complex. {ECO:0000269|PubMed:14749727}.

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
TgeneFIP1L1chr6:143828374chr4:54265897ENST00000306932615356_406197.0521.0Compositional biasNote=Pro-rich
TgeneFIP1L1chr6:143828374chr4:54265897ENST00000306932615456_562197.0521.0Compositional biasNote=Arg-rich
TgeneFIP1L1chr6:143828374chr4:54265897ENST00000306932615478_594197.0521.0Compositional biasNote=Glu-rich
TgeneFIP1L1chr6:143828374chr4:54265897ENST00000337488818356_406235.0595.0Compositional biasNote=Pro-rich
TgeneFIP1L1chr6:143828374chr4:54265897ENST00000337488818456_562235.0595.0Compositional biasNote=Arg-rich
TgeneFIP1L1chr6:143828374chr4:54265897ENST00000337488818478_594235.0595.0Compositional biasNote=Glu-rich
TgeneFIP1L1chr6:143828374chr4:54265897ENST00000358575718356_406220.0589.0Compositional biasNote=Pro-rich
TgeneFIP1L1chr6:143828374chr4:54265897ENST00000358575718456_562220.0589.0Compositional biasNote=Arg-rich
TgeneFIP1L1chr6:143828374chr4:54265897ENST00000358575718478_594220.0589.0Compositional biasNote=Glu-rich
TgeneFIP1L1chr6:143828374chr4:54265897ENST00000507166824356_406235.0850.0Compositional biasNote=Pro-rich
TgeneFIP1L1chr6:143828374chr4:54265897ENST00000507166824456_562235.0850.0Compositional biasNote=Arg-rich
TgeneFIP1L1chr6:143828374chr4:54265897ENST00000507166824478_594235.0850.0Compositional biasNote=Glu-rich
TgeneFIP1L1chr6:143828374chr4:54265897ENST00000507922712356_406220.0379.0Compositional biasNote=Pro-rich
TgeneFIP1L1chr6:143828374chr4:54265897ENST00000507922712456_562220.0379.0Compositional biasNote=Arg-rich
TgeneFIP1L1chr6:143828374chr4:54265897ENST00000507922712478_594220.0379.0Compositional biasNote=Glu-rich
TgeneFIP1L1chr6:143828374chr4:54265897ENST00000306932615457_490197.0521.0RegionArg/Asp/Glu-rich domain
TgeneFIP1L1chr6:143828374chr4:54265897ENST00000337488818457_490235.0595.0RegionArg/Asp/Glu-rich domain
TgeneFIP1L1chr6:143828374chr4:54265897ENST00000358575718457_490220.0589.0RegionArg/Asp/Glu-rich domain
TgeneFIP1L1chr6:143828374chr4:54265897ENST00000507166824457_490235.0850.0RegionArg/Asp/Glu-rich domain
TgeneFIP1L1chr6:143828374chr4:54265897ENST00000507922712457_490220.0379.0RegionArg/Asp/Glu-rich domain

- Not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
TgeneFIP1L1chr6:143828374chr4:54265897ENST000003069326151_356197.0521.0RegionNote=Necessary for stimulating PAPOLA activity
TgeneFIP1L1chr6:143828374chr4:54265897ENST000003374888181_356235.0595.0RegionNote=Necessary for stimulating PAPOLA activity
TgeneFIP1L1chr6:143828374chr4:54265897ENST000003585757181_356220.0589.0RegionNote=Necessary for stimulating PAPOLA activity
TgeneFIP1L1chr6:143828374chr4:54265897ENST000005071668241_356235.0850.0RegionNote=Necessary for stimulating PAPOLA activity
TgeneFIP1L1chr6:143828374chr4:54265897ENST000005079227121_356220.0379.0RegionNote=Necessary for stimulating PAPOLA activity


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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
FUCA2
FIP1L1


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


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Related Drugs to FUCA2-FIP1L1


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

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Related Diseases to FUCA2-FIP1L1


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