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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:NDC1-HSPB11 (FusionGDB2 ID:57564)

Fusion Gene Summary for NDC1-HSPB11

check button Fusion gene summary
Fusion gene informationFusion gene name: NDC1-HSPB11
Fusion gene ID: 57564
HgeneTgene
Gene symbol

NDC1

HSPB11

Gene ID

55706

51668

Gene nameNDC1 transmembrane nucleoporinheat shock protein family B (small) member 11
SynonymsNET3|TMEM48C1orf41|FAP232|HSPCO34|IFT25|PP25
Cytomap

1p32.3

1p32.3

Type of geneprotein-codingprotein-coding
Descriptionnucleoporin NDC1nuclear division cycle 1 homologtransmembrane protein 48intraflagellar transport protein 25 homologheat shock protein beta-11heat shock protein family B (small), member 11intraflagellar transport 25 homologplacental protein 25
Modification date2020031320200313
UniProtAcc

Q9BTX1

Q9Y547

Ensembl transtripts involved in fusion geneENST00000371429, ENST00000540001, 
ENST00000537333, ENST00000234725, 
ENST00000480952, 
ENST00000371378, 
ENST00000194214, ENST00000371377, 
ENST00000489675, ENST00000371376, 
Fusion gene scores* DoF score5 X 4 X 5=1002 X 2 X 2=8
# samples 62
** MAII scorelog2(6/100*10)=-0.736965594166206
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(2/8*10)=1.32192809488736
Context

PubMed: NDC1 [Title/Abstract] AND HSPB11 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointHSPB11(54389577)-NDC1(54238162), # samples:2
NDC1(54252831)-HSPB11(54395818), # samples:1
Anticipated loss of major functional domain due to fusion event.NDC1-HSPB11 seems lost the major protein functional domain in Hgene 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

check buttonFusion gene breakpoints across NDC1 (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 HSPB11 (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
ChimerDB4OVTCGA-24-2262-01ANDC1chr1

54252831

-HSPB11chr1

54395818

-


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Fusion Gene ORF analysis for NDC1-HSPB11

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-shiftENST00000371429ENST00000371378NDC1chr1

54252831

-HSPB11chr1

54395818

-
Frame-shiftENST00000371429ENST00000194214NDC1chr1

54252831

-HSPB11chr1

54395818

-
Frame-shiftENST00000371429ENST00000371377NDC1chr1

54252831

-HSPB11chr1

54395818

-
5CDS-intronENST00000371429ENST00000489675NDC1chr1

54252831

-HSPB11chr1

54395818

-
5CDS-intronENST00000371429ENST00000371376NDC1chr1

54252831

-HSPB11chr1

54395818

-
3UTR-3CDSENST00000540001ENST00000371378NDC1chr1

54252831

-HSPB11chr1

54395818

-
3UTR-3CDSENST00000540001ENST00000194214NDC1chr1

54252831

-HSPB11chr1

54395818

-
3UTR-3CDSENST00000540001ENST00000371377NDC1chr1

54252831

-HSPB11chr1

54395818

-
3UTR-intronENST00000540001ENST00000489675NDC1chr1

54252831

-HSPB11chr1

54395818

-
3UTR-intronENST00000540001ENST00000371376NDC1chr1

54252831

-HSPB11chr1

54395818

-
Frame-shiftENST00000537333ENST00000371378NDC1chr1

54252831

-HSPB11chr1

54395818

-
Frame-shiftENST00000537333ENST00000194214NDC1chr1

54252831

-HSPB11chr1

54395818

-
Frame-shiftENST00000537333ENST00000371377NDC1chr1

54252831

-HSPB11chr1

54395818

-
5CDS-intronENST00000537333ENST00000489675NDC1chr1

54252831

-HSPB11chr1

54395818

-
5CDS-intronENST00000537333ENST00000371376NDC1chr1

54252831

-HSPB11chr1

54395818

-
Frame-shiftENST00000234725ENST00000371378NDC1chr1

54252831

-HSPB11chr1

54395818

-
Frame-shiftENST00000234725ENST00000194214NDC1chr1

54252831

-HSPB11chr1

54395818

-
Frame-shiftENST00000234725ENST00000371377NDC1chr1

54252831

-HSPB11chr1

54395818

-
5CDS-intronENST00000234725ENST00000489675NDC1chr1

54252831

-HSPB11chr1

54395818

-
5CDS-intronENST00000234725ENST00000371376NDC1chr1

54252831

-HSPB11chr1

54395818

-
intron-3CDSENST00000480952ENST00000371378NDC1chr1

54252831

-HSPB11chr1

54395818

-
intron-3CDSENST00000480952ENST00000194214NDC1chr1

54252831

-HSPB11chr1

54395818

-
intron-3CDSENST00000480952ENST00000371377NDC1chr1

54252831

-HSPB11chr1

54395818

-
intron-intronENST00000480952ENST00000489675NDC1chr1

54252831

-HSPB11chr1

54395818

-
intron-intronENST00000480952ENST00000371376NDC1chr1

54252831

-HSPB11chr1

54395818

-

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 NDC1-HSPB11


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 NDC1-HSPB11


check button Go to

FGviewer for the breakpoints of :-:

.
- FGviewer provides the online visualization of the retention search of the protein functional features across DNA, RNA, protein, and pathological levels.
FGviewer

check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
NDC1

Q9BTX1

HSPB11

Q9Y547

FUNCTION: Component of the nuclear pore complex (NPC), which plays a key role in de novo assembly and insertion of NPC in the nuclear envelope. Required for NPC and nuclear envelope assembly, possibly by forming a link between the nuclear envelope membrane and soluble nucleoporins, thereby anchoring the NPC in the membrane. {ECO:0000269|PubMed:16600873, ECO:0000269|PubMed:16702233}.FUNCTION: Component of the IFT complex B required for sonic hedgehog/SHH signaling. May mediate transport of SHH components: required for the export of SMO and PTCH1 receptors out of the cilium and the accumulation of GLI2 at the ciliary tip in response to activation of the SHH pathway, suggesting it is involved in the dynamic transport of SHH signaling molecules within the cilium. Not required for ciliary assembly. Its role in intraflagellar transport is mainly seen in tissues rich in ciliated cells such as kidney and testis. Essential for male fertility, spermiogenesis and sperm flagella formation. Plays a role in the early development of the kidney. May be involved in the regulation of ureteric bud initiation (By similarity). {ECO:0000250|UniProtKB:Q9D6H2}.

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 NDC1-HSPB11


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 NDC1-HSPB11


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 NDC1-HSPB11


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 NDC1-HSPB11


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneNDC1C0043094Weight Gain1CTD_human