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:FERMT1-RBBP8 (FusionGDB2 ID:30111)

Fusion Gene Summary for FERMT1-RBBP8

check button Fusion gene summary
Fusion gene informationFusion gene name: FERMT1-RBBP8
Fusion gene ID: 30111
HgeneTgene
Gene symbol

FERMT1

RBBP8

Gene ID

55612

5932

Gene namefermitin family member 1RB binding protein 8, endonuclease
SynonymsC20orf42|DTGCU2|KIND1|UNC112A|URP1COM1|CTIP|JWDS|RIM|SAE2|SCKL2
Cytomap

20p12.3

18q11.2

Type of geneprotein-codingprotein-coding
Descriptionfermitin family homolog 1UNC112 related protein 1kindlerinkindlin 1kindlin syndrome proteinunc-112-related protein 1DNA endonuclease RBBP8CTBP-interacting proteinRBBP-8retinoblastoma binding protein 8sporulation in the absence of SPO11 protein 2 homolog
Modification date2020031320200328
UniProtAcc

Q9BQL6

RBBP8NL,C20orf151

Ensembl transtripts involved in fusion geneENST00000217289, ENST00000536936, 
ENST00000478194, 
ENST00000327155, 
ENST00000399722, ENST00000399725, 
ENST00000581687, ENST00000360790, 
Fusion gene scores* DoF score8 X 8 X 3=19212 X 12 X 6=864
# samples 815
** MAII scorelog2(8/192*10)=-1.26303440583379
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(15/864*10)=-2.52606881166759
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: FERMT1 [Title/Abstract] AND RBBP8 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointFERMT1(6075586)-RBBP8(20606106), # samples:2
Anticipated loss of major functional domain due to fusion event.FERMT1-RBBP8 seems lost the major protein functional domain in Hgene partner, which is a essential gene due to the frame-shifted ORF.
FERMT1-RBBP8 seems lost the major protein functional domain in Tgene partner, which is a tumor suppressor 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
HgeneFERMT1

GO:0007155

cell adhesion

17012746

HgeneFERMT1

GO:0043616

keratinocyte proliferation

17012746

HgeneFERMT1

GO:0051546

keratinocyte migration

17012746

HgeneFERMT1

GO:0090162

establishment of epithelial cell polarity

17012746


check buttonFusion gene breakpoints across FERMT1 (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 RBBP8 (3'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.
all structure

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-BH-A203-01AFERMT1chr20

6075586

-RBBP8chr18

20606106

+


Top

Fusion Gene ORF analysis for FERMT1-RBBP8

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
Frame-shiftENST00000217289ENST00000327155FERMT1chr20

6075586

-RBBP8chr18

20606106

+
Frame-shiftENST00000217289ENST00000399722FERMT1chr20

6075586

-RBBP8chr18

20606106

+
Frame-shiftENST00000217289ENST00000399725FERMT1chr20

6075586

-RBBP8chr18

20606106

+
Frame-shiftENST00000217289ENST00000581687FERMT1chr20

6075586

-RBBP8chr18

20606106

+
Frame-shiftENST00000536936ENST00000360790FERMT1chr20

6075586

-RBBP8chr18

20606106

+
Frame-shiftENST00000536936ENST00000399722FERMT1chr20

6075586

-RBBP8chr18

20606106

+
Frame-shiftENST00000536936ENST00000399725FERMT1chr20

6075586

-RBBP8chr18

20606106

+
Frame-shiftENST00000536936ENST00000581687FERMT1chr20

6075586

-RBBP8chr18

20606106

+
In-frameENST00000217289ENST00000360790FERMT1chr20

6075586

-RBBP8chr18

20606106

+
In-frameENST00000536936ENST00000327155FERMT1chr20

6075586

-RBBP8chr18

20606106

+
intron-3CDSENST00000478194ENST00000327155FERMT1chr20

6075586

-RBBP8chr18

20606106

+
intron-3CDSENST00000478194ENST00000360790FERMT1chr20

6075586

-RBBP8chr18

20606106

+
intron-3CDSENST00000478194ENST00000399722FERMT1chr20

6075586

-RBBP8chr18

20606106

+
intron-3CDSENST00000478194ENST00000399725FERMT1chr20

6075586

-RBBP8chr18

20606106

+
intron-3CDSENST00000478194ENST00000581687FERMT1chr20

6075586

-RBBP8chr18

20606106

+

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)
ENST00000217289FERMT1chr206075586-ENST00000360790RBBP8chr1820606106+215619287351937400
ENST00000536936FERMT1chr206075586-ENST00000327155RBBP8chr1820606106+152711838151192125

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
ENST00000217289ENST00000360790FERMT1chr206075586-RBBP8chr1820606106+0.0030282120.9969717
ENST00000536936ENST00000327155FERMT1chr206075586-RBBP8chr1820606106+0.0051295130.99487054

Top

Fusion Genomic Features for FERMT1-RBBP8


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)
FERMT1chr206075585-RBBP8chr1820606105+0.001682850.9983171
FERMT1chr206075585-RBBP8chr1820606105+0.001682850.9983171

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.
genomic feature

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 FERMT1-RBBP8


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/chr20:6075586/chr18:20606106)
- 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
FERMT1

Q9BQL6

RBBP8

RBBP8NL,C20orf151

FUNCTION: Involved in cell adhesion. Contributes to integrin activation. When coexpressed with talin, potentiates activation of ITGA2B. Required for normal keratinocyte proliferation. Required for normal polarization of basal keratinocytes in skin, and for normal cell shape. Required for normal adhesion of keratinocytes to fibronectin and laminin, and for normal keratinocyte migration to wound sites. May mediate TGF-beta 1 signaling in tumor progression. {ECO:0000269|PubMed:14634021, ECO:0000269|PubMed:17012746, ECO:0000269|PubMed:19804783}.664

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
HgeneFERMT1chr20:6075586chr18:20606106ENST00000217289-915147_154379678.0Compositional biasNote=Poly-Lys
TgeneRBBP8chr20:6075586chr18:20606106ENST000003997251618840_842833868.0MotifKLHL15-binding

- In-frame and not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgeneFERMT1chr20:6075586chr18:20606106ENST00000217289-915377_473379678.0DomainPH
HgeneFERMT1chr20:6075586chr18:20606106ENST00000217289-91596_653379678.0DomainNote=FERM
TgeneRBBP8chr20:6075586chr18:20606106ENST00000327155171928_157865898.0Coiled coilOntology_term=ECO:0000255
TgeneRBBP8chr20:6075586chr18:20606106ENST00000399722171928_157865898.0Coiled coilOntology_term=ECO:0000255
TgeneRBBP8chr20:6075586chr18:20606106ENST00000399725161828_157833868.0Coiled coilOntology_term=ECO:0000255
TgeneRBBP8chr20:6075586chr18:20606106ENST000003271551719490_494865898.0MotifNote=PXDLS motif
TgeneRBBP8chr20:6075586chr18:20606106ENST000003271551719840_842865898.0MotifKLHL15-binding
TgeneRBBP8chr20:6075586chr18:20606106ENST000003997221719490_494865898.0MotifNote=PXDLS motif
TgeneRBBP8chr20:6075586chr18:20606106ENST000003997221719840_842865898.0MotifKLHL15-binding
TgeneRBBP8chr20:6075586chr18:20606106ENST000003997251618490_494833868.0MotifNote=PXDLS motif
TgeneRBBP8chr20:6075586chr18:20606106ENST00000327155171922_45865898.0RegionNote=Essential for binding to the MRN complex and for RPA focus formation on DNA damage
TgeneRBBP8chr20:6075586chr18:20606106ENST000003271551719509_557865898.0RegionNote=Damage-recruitment motif
TgeneRBBP8chr20:6075586chr18:20606106ENST00000399722171922_45865898.0RegionNote=Essential for binding to the MRN complex and for RPA focus formation on DNA damage
TgeneRBBP8chr20:6075586chr18:20606106ENST000003997221719509_557865898.0RegionNote=Damage-recruitment motif
TgeneRBBP8chr20:6075586chr18:20606106ENST00000399725161822_45833868.0RegionNote=Essential for binding to the MRN complex and for RPA focus formation on DNA damage
TgeneRBBP8chr20:6075586chr18:20606106ENST000003997251618509_557833868.0RegionNote=Damage-recruitment motif


Top

Fusion Gene Sequence for FERMT1-RBBP8


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.
>30111_30111_1_FERMT1-RBBP8_FERMT1_chr20_6075586_ENST00000217289_RBBP8_chr18_20606106_ENST00000360790_length(transcript)=2156nt_BP=1928nt
CTGGAGTCTCCCCTGGTCGGGAGCCTCAGCCTTCTGGAGACTGACACCACCCTCTTACTCAGAGACGAATCGTTTTGTCGTTGCCTTCAC
CTCCCTGACCACAAGTGCTCCGGGGCTCTTTCTGAGGGAGGCAGCTGTTCTAGGCGGGAGGCTGGAGTCTCCTGGGCCTGGACGCACCCC
GGGGTGTGAGTGATGGGTATGCCTGAAAGGAGGGGAAGTGGCGCGGCTTTAATCATCTGGGCTAGTCCCCGGCGGGCCTGGGGGAACAGG
GAAACTGGAGGCGGCCTTAAAGCGTCAGGATGAGACATCGCAAGAGGAGCTGCAGATACTGAGCGTGCGCCCCGGGTTCTCGCCGCCTTC
TCTCCGCCGAGCAGCCCTTCGGCCACCCTTTGCCCTTAAAAATCTGCAGACTGCGCCTCCTCTCCGCGGGAGCGAGACCTAGCAGGCCCG
GGGCTGGGCGTGCCCTCGCCTGCCACGCTGCGCGCTGCCCTCAGCCGGGCCGCTGGGGCCGTGCAGTGCACCGGGCACGCCGCGCCAGGC
TGGGGGCAGGCACCGAGCCTCCGTGGGAGGTCCCGAGGCAGCTTCGCCTGCTCGCCCTGGCTCCAGCCCTCACCTGCCGCAGCCTTAGCT
GAGCAGCCGCCGCCACTGGGCGCCCCCCGCTCCCCACTTCGCCAGCGCCCGCTCCTCGGCTCGGCCCGGGGTAGTTTGTAGGGACGCAGC
TCTCCACGTGCGCGACTGCGAGGCTGGACGCTACGGGCTCCTGGAAAGGAGACACCAGCATTTGCCACAATGCTGTCATCCACTGACTTT
ACATTTGCTTCCTGGGAGCTTGTGGTCCGCGTTGACCATCCCAATGAAGAGCAGCAGAAAGACGTCACACTGAGAGTATCTGGAGACCTT
CATGTTGGAGGAGTGATGCTCAAGTTAGTAGAACAGATCAATATATCCCAAGACTGGTCAGACTTTGCTCTTTGGTGGGAACAGAAGCAT
TGCTGGCTTCTGAAAACCCACTGGACCCTGGACAAATATGGGGTCCAGGCAGATGCAAAGCTTCTCTTCACCCCTCAGCATAAAATGCTG
CGCCTTCGTCTGCCGAATTTGAAGATGGTGAGGTTGCGAGTCAGCTTCTCAGCTGTGGTTTTTAAAGCTGTCAGTGATATCTGCAAAATC
CTGAATATTAGAAGATCAGAAGAGCTTTCCTTGTTAAAGCCGTCTGGTGACTATTTTAAGAAGAAGAAGAAAAAAGACAAAAATAATAAG
GAACCCATAATTGAAGATATTCTAAACCTGGAGAGTTCTCCAACAGCTTCAGGTTCATCAGTAAGTCCTGGTTTATACAGTAAAACCATG
ACCCCTATATATGACCCCATCAATGGAACACCAGCATCATCCACCATGACTTGGTTCAGTGACAGCCCTTTGACGGAACAAAACTGCAGC
ATCCTCGCATTCAGCCAACCCCCCCAGTCCCCAGAAGCACTTGCGGATATGTACCAGCCTCGGTCTCTGGTTGATAAAGCCAAGCTCAAT
GCAGGTTGGCTAGACTCCTCACGCTCCCTTATGGAACAAGGCATCCAAGAGGATGAGCAGCTGCTCTTACGATTTAAATATTATTCTTTC
TTCGACTTGAATCCTAAATATGATGCTGTCCGAATAAACCAACTCTATGAGCAAGCCAGGTGGGCCATTCTCTTAGAAGAAATTGATTGC
ACAGAGGAAGAAATGTTGATCTTTGCAGCTCTACAGTACCACATTAGCAAACTGTCGTTGTCTGCTGAAACACAGGATTTTGCAGGCGAG
TCCGAGGTTGATGAAATAGAAGCGGCGCTTTCTAATTTGGAAGTAACCCTAGAAGGTGGAAAAGCGGACAGCCTTTTGGAGGACATTACT
GATATCCCTAAACTTGCAGATAATCTCAAATTATTTAGGTTATATTAAGGAAGATCTTGATCCTTGTCCTCGTCCAAAAAGACGTCAGCC
TTACAACGCAATATTTTCTCCAAAAGGCAAGGAGCAGAAGACATAGACGTTGAAACAGAAACAGAAGGATGAAGGACAGTTTTTTCCTTC

>30111_30111_1_FERMT1-RBBP8_FERMT1_chr20_6075586_ENST00000217289_RBBP8_chr18_20606106_ENST00000360790_length(amino acids)=400AA_BP=
MRGWTLRAPGKETPAFATMLSSTDFTFASWELVVRVDHPNEEQQKDVTLRVSGDLHVGGVMLKLVEQINISQDWSDFALWWEQKHCWLLK
THWTLDKYGVQADAKLLFTPQHKMLRLRLPNLKMVRLRVSFSAVVFKAVSDICKILNIRRSEELSLLKPSGDYFKKKKKKDKNNKEPIIE
DILNLESSPTASGSSVSPGLYSKTMTPIYDPINGTPASSTMTWFSDSPLTEQNCSILAFSQPPQSPEALADMYQPRSLVDKAKLNAGWLD
SSRSLMEQGIQEDEQLLLRFKYYSFFDLNPKYDAVRINQLYEQARWAILLEEIDCTEEEMLIFAALQYHISKLSLSAETQDFAGESEVDE

--------------------------------------------------------------
>30111_30111_2_FERMT1-RBBP8_FERMT1_chr20_6075586_ENST00000536936_RBBP8_chr18_20606106_ENST00000327155_length(transcript)=1527nt_BP=1183nt
AGTGCACCGGGCACGCCGCGCCAGGCTGGGGGCAGGCACCGAGCCTCCGTGGGAGGTCCCGAGGCAGCTTCGCCTGCTCGCCCTGGCTCC
AGCCCTCACCTGCCGCAGCCTTAGCTGAGCAGCCGCCGCCACTGGGCGCCCCCCGCTCCCCACTTCGCCAGCGCCCGCTCCTCGGCTCGG
CCCGGGGTAGTTTGTAGGGACGCAGCTCTCCACGTGCGCGACTGCGAGGCTGGACGCTACGGGCTCCTGGAAAGGAGACACCAGCATTTG
CCACAATGCTGTCATCCACTGACTTTACATTTGCTTCCTGGGAGCTTGTGGTCCGCGTTGACCATCCCAATGAAGAGCAGCAGAAAGACG
TCACACTGAGAGTATCTGGAGACCTTCATGTTGGAGGAGTGATGCTCAAATATATCCCAAGACTGGTCAGACTTTGCTCTTTGGTGGGAA
CAGAAGCATTGCTGGCTTCTGAAAACCCACTGGACCCTGGACAAATATGGGGTCCAGGCAGATGCAAAGCTTCTCTTCACCCCTCAGCAT
AAAATGCTGCGCCTTCGTCTGCCGAATTTGAAGATGGTGAGGTTGCGAGTCAGCTTCTCAGCTGTGGTTTTTAAAGCTGTCAGTGATATC
TGCAAAATCCTGAATATTAGAAGATCAGAAGAGCTTTCCTTGTTAAAGCCGTCTGGTGACTATTTTAAGAAGAAGAAGAAAAAAGACAAA
AATAATAAGGAACCCATAATTGAAGATATTCTAAACCTGGAGAGTTCTCCAACAGCTTCAGGTTCATCAGTTGGCTAGACTCCTCACGCT
CCCTTATGGAACAAGGCATCCAAGAGGATGAGCAGCTGCTCTTACGATTTAAATATTATTCTTTCTTCGACTTGAATCCTAAATATGATG
CTGTCCGAATAAACCAACTCTATGAGCAAGCCAGGTGGGCCATTCTCTTAGAAGAAATTGATTGCACAGAGGAAGAAATGTTGATCTTTG
CAGCTCTACAGTACCACATTAGCAAACTGTCGTTGTCTGCTGAAACACAGGATTTTGCAGGCGAGTCCGAGGTTGATGAAATAGAAGCGG
CGCTTTCTAATTTGGAAGTAACCCTAGAAGGTGGAAAAGCGGACAGCCTTTTGGAGGACATTACTGATATCCCTAAACTTGCAGATAATC
TCAAATTATTTAGGTTATATTAAGGAAGATCTTGATCCTTGTCCTCGTCCAAAAAGACGTCAGCCTTACAACGCAATATTTTCTCCAAAA
GGCAAGGAGCAGAAGACATAGACGTTGAAACAGAAACAGAAGGATGAAGGACAGTTTTTTCCTTCTTAGTTATTTATAGTTAAAGTTGGT
ACTAAACATTGATTTTTTTGATCTTCTGTAAATGGATTTATAAATCAGTTTTCTATTGAAAATGTTTGTGATATTTTGCTTTTGCACCTT

>30111_30111_2_FERMT1-RBBP8_FERMT1_chr20_6075586_ENST00000536936_RBBP8_chr18_20606106_ENST00000327155_length(amino acids)=125AA_BP=
MEQGIQEDEQLLLRFKYYSFFDLNPKYDAVRINQLYEQARWAILLEEIDCTEEEMLIFAALQYHISKLSLSAETQDFAGESEVDEIEAAL

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

Top

Fusion Gene PPI Analysis for FERMT1-RBBP8


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 FERMT1-RBBP8


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 FERMT1-RBBP8


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