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Center for Computational Systems Medicine
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FusionGeneSummary

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FusionProtFeature

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FusionGeneSequence

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FusionGenePPI

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RelatedDrugs

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RelatedDiseases

Fusion gene ID: 30964

FusionGeneSummary for RER1_DNAH7

check button Fusion gene summary
Fusion gene informationFusion gene name: RER1_DNAH7
Fusion gene ID: 30964
HgeneTgene
Gene symbol

RER1

DNAH7

Gene ID

11079

56171

Gene nameretention in endoplasmic reticulum sorting receptor 1dynein axonemal heavy chain 7
Synonyms--
Cytomap

1p36.32

2q32.3

Type of geneprotein-codingprotein-coding
Descriptionprotein RER1RER1 retention in endoplasmic reticulum 1 homologdynein heavy chain 7, axonemalaxonemal beta dynein heavy chain 7axonemal dynein heavy chain 7ciliary dynein heavy chain 7dynein heavy chain-like protein 2dynein, axonemal, heavy polypeptide 7hDHC2
Modification date2018052320180523
UniProtAcc

O15258

Q8WXX0

Ensembl transtripts involved in fusion geneENST00000378518, ENST00000605895, 
ENST00000378513, ENST00000378512, 
ENST00000488353, 
ENST00000409063, 
ENST00000312428, ENST00000410072, 
ENST00000484183, 
Fusion gene scores* DoF score3 X 3 X 3=273 X 3 X 2=18
# samples 33
** MAII scorelog2(3/27*10)=0.15200309344505
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
log2(3/18*10)=0.736965594166206
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
Context

PubMed: RER1 [Title/Abstract] AND DNAH7 [Title/Abstract] AND fusion [Title/Abstract]

Functional or gene categories assigned by FusionGDB annotation
* 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
HgeneRER1

GO:0006890

retrograde vesicle-mediated transport, Golgi to ER

9309388


check button Fusion gene information from three resources
(ChiTars (NAR, 2018), tumorfusions (NAR, 2018), Gao et al. (Cell, 2018))
* 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.
Data typeSourceCancer typeSampleHgeneHchrHbpHstrandTgeneTchrTbpTstrand
TCGALDLGGTCGA-QH-A6XC-01ARER1chr1

2335028

+DNAH7chr2

196621009

-
* LD: Li Ding group's fusion gene list
  RV: Roel Verhaak group's fusion gene list
  ChiTaRs fusion database

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
intron-3CDSENST00000378518ENST00000409063RER1chr1

2335028

+DNAH7chr2

196621009

-
intron-3CDSENST00000378518ENST00000312428RER1chr1

2335028

+DNAH7chr2

196621009

-
intron-intronENST00000378518ENST00000410072RER1chr1

2335028

+DNAH7chr2

196621009

-
intron-intronENST00000378518ENST00000484183RER1chr1

2335028

+DNAH7chr2

196621009

-
3UTR-3CDSENST00000605895ENST00000409063RER1chr1

2335028

+DNAH7chr2

196621009

-
3UTR-3CDSENST00000605895ENST00000312428RER1chr1

2335028

+DNAH7chr2

196621009

-
3UTR-intronENST00000605895ENST00000410072RER1chr1

2335028

+DNAH7chr2

196621009

-
3UTR-intronENST00000605895ENST00000484183RER1chr1

2335028

+DNAH7chr2

196621009

-
3UTR-3CDSENST00000378513ENST00000409063RER1chr1

2335028

+DNAH7chr2

196621009

-
3UTR-3CDSENST00000378513ENST00000312428RER1chr1

2335028

+DNAH7chr2

196621009

-
3UTR-intronENST00000378513ENST00000410072RER1chr1

2335028

+DNAH7chr2

196621009

-
3UTR-intronENST00000378513ENST00000484183RER1chr1

2335028

+DNAH7chr2

196621009

-
3UTR-3CDSENST00000378512ENST00000409063RER1chr1

2335028

+DNAH7chr2

196621009

-
3UTR-3CDSENST00000378512ENST00000312428RER1chr1

2335028

+DNAH7chr2

196621009

-
3UTR-intronENST00000378512ENST00000410072RER1chr1

2335028

+DNAH7chr2

196621009

-
3UTR-intronENST00000378512ENST00000484183RER1chr1

2335028

+DNAH7chr2

196621009

-
intron-3CDSENST00000488353ENST00000409063RER1chr1

2335028

+DNAH7chr2

196621009

-
intron-3CDSENST00000488353ENST00000312428RER1chr1

2335028

+DNAH7chr2

196621009

-
intron-intronENST00000488353ENST00000410072RER1chr1

2335028

+DNAH7chr2

196621009

-
intron-intronENST00000488353ENST00000484183RER1chr1

2335028

+DNAH7chr2

196621009

-

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FusionProtFeatures for RER1_DNAH7


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
RER1

O15258

DNAH7

Q8WXX0

Involved in the retrieval of endoplasmic reticulummembrane proteins from the early Golgi compartment. {ECO:0000250}.

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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FusionGeneSequence for RER1_DNAH7


check button For in-frame fusion transcripts, we provide the fusion transcript sequences and fusion amino acid sequences.
(nt: nucleotides, aa: amino acids)

* Fusion amino acid sequences.

* Fusion transcript sequences (only coding sequence (CDS) region).

* Fusion transcript sequences (Full-length transcript).

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FusionGenePPI for RER1_DNAH7


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
RER1IMMT, HAP1, SH3GL3, UBL4A, SYVN1, PMP22, RNF2, EGFR, HLA-DPA1, TSPAN5, SLC39A4, POMK, ERGIC3, CHRNA9, UNK, ATP5A1, ATP5H, ATP5I, ATP5L, ATP5O, BCAP31, RAB1A, VDAC2, STX12, HERC2, TCTN2, TCTN3, TMEM17, TMEM216, DPEP1, SLC2A12, UPK1A, SYCE3, TRIM25DNAH7UBC, EGFR, FOXA1


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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RelatedDrugs for RER1_DNAH7


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.0 2018-04-02)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status

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RelatedDiseases for RER1_DNAH7


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