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Center for Computational Systems Medicine
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Fusion Gene Summary

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Fusion Gene ORF analysis

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Fusion Genomic Features

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Fusion Protein Features

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Fusion Gene Sequence

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Fusion Gene PPI analysis

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Related Drugs

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Related Diseases

Fusion gene:BANF1-ITIH5 (FusionGDB2 ID:8946)

Fusion Gene Summary for BANF1-ITIH5

check button Fusion gene summary
Fusion gene informationFusion gene name: BANF1-ITIH5
Fusion gene ID: 8946
HgeneTgene
Gene symbol

BANF1

ITIH5

Gene ID

8815

80760

Gene nameBAF nuclear assembly factor 1inter-alpha-trypsin inhibitor heavy chain 5
SynonymsBAF|BCRP1|D14S1460|NGPSITI-HC5|PP14776
Cytomap

11q13.1

10p14

Type of geneprotein-codingprotein-coding
Descriptionbarrier-to-autointegration factorbarrier to autointegration factor 1breakpoint cluster region protein 1inter-alpha-trypsin inhibitor heavy chain H5ITI heavy chain H5inter-alpha (globulin) inhibitor H5inter-alpha-trypsin inhibitor heavy chain family member 5
Modification date2020031320200320
UniProtAcc

O75531

Q86UX2

Ensembl transtripts involved in fusion geneENST00000312175, ENST00000445560, 
ENST00000524628, ENST00000527348, 
ENST00000533166, 		ENST00000256861, 
ENST00000298441, ENST00000397145, 
ENST00000397146, ENST00000434980, 
ENST00000446830, 
Fusion gene scores* DoF score3 X 2 X 1=67 X 7 X 3=147
# samples 37
** MAII scorelog2(3/6*10)=2.32192809488736log2(7/147*10)=-1.0703893278914
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: BANF1 [Title/Abstract] AND ITIH5 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointBANF1(65771617)-ITIH5(7669263), # 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
HgeneBANF1

GO:0045071

negative regulation of viral genome replication

18005698


check buttonFusion gene breakpoints across BANF1 (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 ITIH5 (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
ChiTaRS5.0N/ABG575319BANF1chr11

65771617

+ITIH5chr10

7669263

+


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Fusion Gene ORF analysis for BANF1-ITIH5

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
5CDS-intronENST00000312175ENST00000256861BANF1chr11

65771617

+ITIH5chr10

7669263

+
5CDS-intronENST00000312175ENST00000298441BANF1chr11

65771617

+ITIH5chr10

7669263

+
5CDS-intronENST00000312175ENST00000397145BANF1chr11

65771617

+ITIH5chr10

7669263

+
5CDS-intronENST00000312175ENST00000397146BANF1chr11

65771617

+ITIH5chr10

7669263

+
5CDS-intronENST00000312175ENST00000434980BANF1chr11

65771617

+ITIH5chr10

7669263

+
5CDS-intronENST00000312175ENST00000446830BANF1chr11

65771617

+ITIH5chr10

7669263

+
5CDS-intronENST00000445560ENST00000256861BANF1chr11

65771617

+ITIH5chr10

7669263

+
5CDS-intronENST00000445560ENST00000298441BANF1chr11

65771617

+ITIH5chr10

7669263

+
5CDS-intronENST00000445560ENST00000397145BANF1chr11

65771617

+ITIH5chr10

7669263

+
5CDS-intronENST00000445560ENST00000397146BANF1chr11

65771617

+ITIH5chr10

7669263

+
5CDS-intronENST00000445560ENST00000434980BANF1chr11

65771617

+ITIH5chr10

7669263

+
5CDS-intronENST00000445560ENST00000446830BANF1chr11

65771617

+ITIH5chr10

7669263

+
5CDS-intronENST00000524628ENST00000256861BANF1chr11

65771617

+ITIH5chr10

7669263

+
5CDS-intronENST00000524628ENST00000298441BANF1chr11

65771617

+ITIH5chr10

7669263

+
5CDS-intronENST00000524628ENST00000397145BANF1chr11

65771617

+ITIH5chr10

7669263

+
5CDS-intronENST00000524628ENST00000397146BANF1chr11

65771617

+ITIH5chr10

7669263

+
5CDS-intronENST00000524628ENST00000434980BANF1chr11

65771617

+ITIH5chr10

7669263

+
5CDS-intronENST00000524628ENST00000446830BANF1chr11

65771617

+ITIH5chr10

7669263

+
intron-intronENST00000527348ENST00000256861BANF1chr11

65771617

+ITIH5chr10

7669263

+
intron-intronENST00000527348ENST00000298441BANF1chr11

65771617

+ITIH5chr10

7669263

+
intron-intronENST00000527348ENST00000397145BANF1chr11

65771617

+ITIH5chr10

7669263

+
intron-intronENST00000527348ENST00000397146BANF1chr11

65771617

+ITIH5chr10

7669263

+
intron-intronENST00000527348ENST00000434980BANF1chr11

65771617

+ITIH5chr10

7669263

+
intron-intronENST00000527348ENST00000446830BANF1chr11

65771617

+ITIH5chr10

7669263

+
intron-intronENST00000533166ENST00000256861BANF1chr11

65771617

+ITIH5chr10

7669263

+
intron-intronENST00000533166ENST00000298441BANF1chr11

65771617

+ITIH5chr10

7669263

+
intron-intronENST00000533166ENST00000397145BANF1chr11

65771617

+ITIH5chr10

7669263

+
intron-intronENST00000533166ENST00000397146BANF1chr11

65771617

+ITIH5chr10

7669263

+
intron-intronENST00000533166ENST00000434980BANF1chr11

65771617

+ITIH5chr10

7669263

+
intron-intronENST00000533166ENST00000446830BANF1chr11

65771617

+ITIH5chr10

7669263

+

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

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Fusion Genomic Features for BANF1-ITIH5


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)

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.

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Fusion Protein Features for BANF1-ITIH5


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/:65771617/:7669263)
- 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
BANF1

O75531

ITIH5

Q86UX2

FUNCTION: Plays fundamental roles in nuclear assembly, chromatin organization, gene expression and gonad development. May potently compress chromatin structure and be involved in membrane recruitment and chromatin decondensation during nuclear assembly. Contains 2 non-specific dsDNA-binding sites which may promote DNA cross-bridging. {ECO:0000269|PubMed:12163470}.; FUNCTION: (Microbial infection) Exploited by retroviruses for inhibiting self-destructing autointegration of retroviral DNA, thereby promoting integration of viral DNA into the host chromosome. EMD and BAF are cooperative cofactors of HIV-1 infection. Association of EMD with the viral DNA requires the presence of BAF and viral integrase. The association of viral DNA with chromatin requires the presence of BAF and EMD. {ECO:0000269|PubMed:11005805, ECO:0000269|PubMed:16680152}.; FUNCTION: (Microbial infection) In case of poxvirus infection, has an antiviral activity by blocking viral DNA replication. {ECO:0000269|PubMed:18005698}.FUNCTION: May act as a tumor suppressor.

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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Fusion Gene Sequence for BANF1-ITIH5


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.

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Fusion Gene PPI Analysis for BANF1-ITIH5


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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Related Drugs for BANF1-ITIH5


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

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Related Diseases for BANF1-ITIH5


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