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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: 30794

FusionGeneSummary for RBM6_TTC7A

check button Fusion gene summary
Fusion gene informationFusion gene name: RBM6_TTC7A
Fusion gene ID: 30794
HgeneTgene
Gene symbol

RBM6

TTC7A

Gene ID

10180

57217

Gene nameRNA binding motif protein 6tetratricopeptide repeat domain 7A
Synonyms3G2|DEF-3|DEF3|HLC-11|NY-LU-12|g16GIDID|MINAT|TTC7
Cytomap

3p21.31

2p21

Type of geneprotein-codingprotein-coding
DescriptionRNA-binding protein 6RNA-binding protein DEF-3lung cancer antigen NY-LU-12lung cancer protooncogene 11tetratricopeptide repeat protein 7ATPR repeat protein 7A
Modification date2018051920180523
UniProtAcc

P78332

Q9ULT0

Ensembl transtripts involved in fusion geneENST00000442092, ENST00000266022, 
ENST00000443081, ENST00000539992, 
ENST00000441115, ENST00000422955, 
ENST00000421682, 
ENST00000409245, 
ENST00000319190, ENST00000461601, 
ENST00000394850, ENST00000263737, 
ENST00000536057, 
Fusion gene scores* DoF score13 X 10 X 6=7805 X 4 X 4=80
# samples 135
** MAII scorelog2(13/780*10)=-2.58496250072116
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(5/80*10)=-0.678071905112638
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: RBM6 [Title/Abstract] AND TTC7A [Title/Abstract] AND fusion [Title/Abstract]

Functional or gene categories assigned by FusionGDB annotationTumor suppressor gene involved fusion gene, retained protein feature but frameshift.
DDR (DNA damage repair) gene involved fusion gene, in-frame but not retained their domain.
* 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
TgeneTTC7A

GO:0072659

protein localization to plasma membrane

23229899


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
TCGARVSARCTCGA-K1-A3PO-01ARBM6chr3

50106197

+TTC7Achr2

47287908

+
* 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
Frame-shiftENST00000442092ENST00000409245RBM6chr3

50106197

+TTC7Achr2

47287908

+
Frame-shiftENST00000442092ENST00000319190RBM6chr3

50106197

+TTC7Achr2

47287908

+
5CDS-intronENST00000442092ENST00000461601RBM6chr3

50106197

+TTC7Achr2

47287908

+
5CDS-intronENST00000442092ENST00000394850RBM6chr3

50106197

+TTC7Achr2

47287908

+
5CDS-intronENST00000442092ENST00000263737RBM6chr3

50106197

+TTC7Achr2

47287908

+
5CDS-intronENST00000442092ENST00000536057RBM6chr3

50106197

+TTC7Achr2

47287908

+
Frame-shiftENST00000266022ENST00000409245RBM6chr3

50106197

+TTC7Achr2

47287908

+
Frame-shiftENST00000266022ENST00000319190RBM6chr3

50106197

+TTC7Achr2

47287908

+
5CDS-intronENST00000266022ENST00000461601RBM6chr3

50106197

+TTC7Achr2

47287908

+
5CDS-intronENST00000266022ENST00000394850RBM6chr3

50106197

+TTC7Achr2

47287908

+
5CDS-intronENST00000266022ENST00000263737RBM6chr3

50106197

+TTC7Achr2

47287908

+
5CDS-intronENST00000266022ENST00000536057RBM6chr3

50106197

+TTC7Achr2

47287908

+
Frame-shiftENST00000443081ENST00000409245RBM6chr3

50106197

+TTC7Achr2

47287908

+
Frame-shiftENST00000443081ENST00000319190RBM6chr3

50106197

+TTC7Achr2

47287908

+
5CDS-intronENST00000443081ENST00000461601RBM6chr3

50106197

+TTC7Achr2

47287908

+
5CDS-intronENST00000443081ENST00000394850RBM6chr3

50106197

+TTC7Achr2

47287908

+
5CDS-intronENST00000443081ENST00000263737RBM6chr3

50106197

+TTC7Achr2

47287908

+
5CDS-intronENST00000443081ENST00000536057RBM6chr3

50106197

+TTC7Achr2

47287908

+
Frame-shiftENST00000539992ENST00000409245RBM6chr3

50106197

+TTC7Achr2

47287908

+
Frame-shiftENST00000539992ENST00000319190RBM6chr3

50106197

+TTC7Achr2

47287908

+
5CDS-intronENST00000539992ENST00000461601RBM6chr3

50106197

+TTC7Achr2

47287908

+
5CDS-intronENST00000539992ENST00000394850RBM6chr3

50106197

+TTC7Achr2

47287908

+
5CDS-intronENST00000539992ENST00000263737RBM6chr3

50106197

+TTC7Achr2

47287908

+
5CDS-intronENST00000539992ENST00000536057RBM6chr3

50106197

+TTC7Achr2

47287908

+
intron-3CDSENST00000441115ENST00000409245RBM6chr3

50106197

+TTC7Achr2

47287908

+
intron-3CDSENST00000441115ENST00000319190RBM6chr3

50106197

+TTC7Achr2

47287908

+
intron-intronENST00000441115ENST00000461601RBM6chr3

50106197

+TTC7Achr2

47287908

+
intron-intronENST00000441115ENST00000394850RBM6chr3

50106197

+TTC7Achr2

47287908

+
intron-intronENST00000441115ENST00000263737RBM6chr3

50106197

+TTC7Achr2

47287908

+
intron-intronENST00000441115ENST00000536057RBM6chr3

50106197

+TTC7Achr2

47287908

+
Frame-shiftENST00000422955ENST00000409245RBM6chr3

50106197

+TTC7Achr2

47287908

+
Frame-shiftENST00000422955ENST00000319190RBM6chr3

50106197

+TTC7Achr2

47287908

+
5CDS-intronENST00000422955ENST00000461601RBM6chr3

50106197

+TTC7Achr2

47287908

+
5CDS-intronENST00000422955ENST00000394850RBM6chr3

50106197

+TTC7Achr2

47287908

+
5CDS-intronENST00000422955ENST00000263737RBM6chr3

50106197

+TTC7Achr2

47287908

+
5CDS-intronENST00000422955ENST00000536057RBM6chr3

50106197

+TTC7Achr2

47287908

+
5UTR-3CDSENST00000421682ENST00000409245RBM6chr3

50106197

+TTC7Achr2

47287908

+
5UTR-3CDSENST00000421682ENST00000319190RBM6chr3

50106197

+TTC7Achr2

47287908

+
5UTR-intronENST00000421682ENST00000461601RBM6chr3

50106197

+TTC7Achr2

47287908

+
5UTR-intronENST00000421682ENST00000394850RBM6chr3

50106197

+TTC7Achr2

47287908

+
5UTR-intronENST00000421682ENST00000263737RBM6chr3

50106197

+TTC7Achr2

47287908

+
5UTR-intronENST00000421682ENST00000536057RBM6chr3

50106197

+TTC7Achr2

47287908

+

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FusionProtFeatures for RBM6_TTC7A


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
RBM6

P78332

TTC7A

Q9ULT0

Specifically binds poly(G) RNA homopolymers in vitro. Component of a complex required to localizephosphatidylinositol 4-kinase (PI4K) to the plasma membrane(PubMed:23229899, PubMed:24417819). The complex acts as aregulator of phosphatidylinositol 4-phosphate (PtdIns(4)P)synthesis (Probable). In the complex, plays a central role inbridging PI4KA to EFR3B and FAM126A, via direct interactions (Bysimilarity). {ECO:0000250|UniProtKB:Q86TV6,ECO:0000269|PubMed:23229899, ECO:0000269|PubMed:24417819}.

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 RBM6_TTC7A


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 RBM6_TTC7A


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
RBM6SIRT7, TAF7, SF3B3, ASB12, ASB18, EEF1G, SHMT2, NXF1, FGL1, HNRNPA1, PPP1CB, EMC2, MATR3, PAPD5, MMGT1, NAGK, MITF, CEPT1, ALS2, ZC3H18, PAK7, TRIM25, BRCA1TTC7ACHMP4B, CDH1, CAMKV, TRIM25


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 RBM6_TTC7A


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 RBM6_TTC7A


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
TgeneTTC7AC0220744Multiple gastrointestinal atresias (disorder)6ORPHANET;UNIPROT