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Fusion gene ID: 30794 |
FusionGeneSummary for RBM6_TTC7A |
Fusion gene summary |
Fusion gene information | Fusion gene name: RBM6_TTC7A | Fusion gene ID: 30794 | Hgene | Tgene | Gene symbol | RBM6 | TTC7A | Gene ID | 10180 | 57217 |
Gene name | RNA binding motif protein 6 | tetratricopeptide repeat domain 7A | |
Synonyms | 3G2|DEF-3|DEF3|HLC-11|NY-LU-12|g16 | GIDID|MINAT|TTC7 | |
Cytomap | 3p21.31 | 2p21 | |
Type of gene | protein-coding | protein-coding | |
Description | RNA-binding protein 6RNA-binding protein DEF-3lung cancer antigen NY-LU-12lung cancer protooncogene 11 | tetratricopeptide repeat protein 7ATPR repeat protein 7A | |
Modification date | 20180519 | 20180523 | |
UniProtAcc | P78332 | Q9ULT0 | |
Ensembl transtripts involved in fusion gene | ENST00000442092, ENST00000266022, ENST00000443081, ENST00000539992, ENST00000441115, ENST00000422955, ENST00000421682, | ENST00000409245, ENST00000319190, ENST00000461601, ENST00000394850, ENST00000263737, ENST00000536057, | |
Fusion gene scores | * DoF score | 13 X 10 X 6=780 | 5 X 4 X 4=80 |
# samples | 13 | 5 | |
** MAII score | log2(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 annotation | Tumor 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) |
Gene ontology of each fusion partner gene with evidence of Inferred from Direct Assay (IDA) from Entrez |
Partner | Gene | GO ID | GO term | PubMed ID |
Tgene | TTC7A | GO:0072659 | protein localization to plasma membrane | 23229899 |
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 type | Source | Cancer type | Sample | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand |
TCGA | RV | SARC | TCGA-K1-A3PO-01A | RBM6 | chr3 | 50106197 | + | TTC7A | chr2 | 47287908 | + |
* LD: Li Ding group's fusion gene list RV: Roel Verhaak group's fusion gene list ChiTaRs fusion database |
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. |
ORF | Henst | Tenst | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand |
Frame-shift | ENST00000442092 | ENST00000409245 | RBM6 | chr3 | 50106197 | + | TTC7A | chr2 | 47287908 | + |
Frame-shift | ENST00000442092 | ENST00000319190 | RBM6 | chr3 | 50106197 | + | TTC7A | chr2 | 47287908 | + |
5CDS-intron | ENST00000442092 | ENST00000461601 | RBM6 | chr3 | 50106197 | + | TTC7A | chr2 | 47287908 | + |
5CDS-intron | ENST00000442092 | ENST00000394850 | RBM6 | chr3 | 50106197 | + | TTC7A | chr2 | 47287908 | + |
5CDS-intron | ENST00000442092 | ENST00000263737 | RBM6 | chr3 | 50106197 | + | TTC7A | chr2 | 47287908 | + |
5CDS-intron | ENST00000442092 | ENST00000536057 | RBM6 | chr3 | 50106197 | + | TTC7A | chr2 | 47287908 | + |
Frame-shift | ENST00000266022 | ENST00000409245 | RBM6 | chr3 | 50106197 | + | TTC7A | chr2 | 47287908 | + |
Frame-shift | ENST00000266022 | ENST00000319190 | RBM6 | chr3 | 50106197 | + | TTC7A | chr2 | 47287908 | + |
5CDS-intron | ENST00000266022 | ENST00000461601 | RBM6 | chr3 | 50106197 | + | TTC7A | chr2 | 47287908 | + |
5CDS-intron | ENST00000266022 | ENST00000394850 | RBM6 | chr3 | 50106197 | + | TTC7A | chr2 | 47287908 | + |
5CDS-intron | ENST00000266022 | ENST00000263737 | RBM6 | chr3 | 50106197 | + | TTC7A | chr2 | 47287908 | + |
5CDS-intron | ENST00000266022 | ENST00000536057 | RBM6 | chr3 | 50106197 | + | TTC7A | chr2 | 47287908 | + |
Frame-shift | ENST00000443081 | ENST00000409245 | RBM6 | chr3 | 50106197 | + | TTC7A | chr2 | 47287908 | + |
Frame-shift | ENST00000443081 | ENST00000319190 | RBM6 | chr3 | 50106197 | + | TTC7A | chr2 | 47287908 | + |
5CDS-intron | ENST00000443081 | ENST00000461601 | RBM6 | chr3 | 50106197 | + | TTC7A | chr2 | 47287908 | + |
5CDS-intron | ENST00000443081 | ENST00000394850 | RBM6 | chr3 | 50106197 | + | TTC7A | chr2 | 47287908 | + |
5CDS-intron | ENST00000443081 | ENST00000263737 | RBM6 | chr3 | 50106197 | + | TTC7A | chr2 | 47287908 | + |
5CDS-intron | ENST00000443081 | ENST00000536057 | RBM6 | chr3 | 50106197 | + | TTC7A | chr2 | 47287908 | + |
Frame-shift | ENST00000539992 | ENST00000409245 | RBM6 | chr3 | 50106197 | + | TTC7A | chr2 | 47287908 | + |
Frame-shift | ENST00000539992 | ENST00000319190 | RBM6 | chr3 | 50106197 | + | TTC7A | chr2 | 47287908 | + |
5CDS-intron | ENST00000539992 | ENST00000461601 | RBM6 | chr3 | 50106197 | + | TTC7A | chr2 | 47287908 | + |
5CDS-intron | ENST00000539992 | ENST00000394850 | RBM6 | chr3 | 50106197 | + | TTC7A | chr2 | 47287908 | + |
5CDS-intron | ENST00000539992 | ENST00000263737 | RBM6 | chr3 | 50106197 | + | TTC7A | chr2 | 47287908 | + |
5CDS-intron | ENST00000539992 | ENST00000536057 | RBM6 | chr3 | 50106197 | + | TTC7A | chr2 | 47287908 | + |
intron-3CDS | ENST00000441115 | ENST00000409245 | RBM6 | chr3 | 50106197 | + | TTC7A | chr2 | 47287908 | + |
intron-3CDS | ENST00000441115 | ENST00000319190 | RBM6 | chr3 | 50106197 | + | TTC7A | chr2 | 47287908 | + |
intron-intron | ENST00000441115 | ENST00000461601 | RBM6 | chr3 | 50106197 | + | TTC7A | chr2 | 47287908 | + |
intron-intron | ENST00000441115 | ENST00000394850 | RBM6 | chr3 | 50106197 | + | TTC7A | chr2 | 47287908 | + |
intron-intron | ENST00000441115 | ENST00000263737 | RBM6 | chr3 | 50106197 | + | TTC7A | chr2 | 47287908 | + |
intron-intron | ENST00000441115 | ENST00000536057 | RBM6 | chr3 | 50106197 | + | TTC7A | chr2 | 47287908 | + |
Frame-shift | ENST00000422955 | ENST00000409245 | RBM6 | chr3 | 50106197 | + | TTC7A | chr2 | 47287908 | + |
Frame-shift | ENST00000422955 | ENST00000319190 | RBM6 | chr3 | 50106197 | + | TTC7A | chr2 | 47287908 | + |
5CDS-intron | ENST00000422955 | ENST00000461601 | RBM6 | chr3 | 50106197 | + | TTC7A | chr2 | 47287908 | + |
5CDS-intron | ENST00000422955 | ENST00000394850 | RBM6 | chr3 | 50106197 | + | TTC7A | chr2 | 47287908 | + |
5CDS-intron | ENST00000422955 | ENST00000263737 | RBM6 | chr3 | 50106197 | + | TTC7A | chr2 | 47287908 | + |
5CDS-intron | ENST00000422955 | ENST00000536057 | RBM6 | chr3 | 50106197 | + | TTC7A | chr2 | 47287908 | + |
5UTR-3CDS | ENST00000421682 | ENST00000409245 | RBM6 | chr3 | 50106197 | + | TTC7A | chr2 | 47287908 | + |
5UTR-3CDS | ENST00000421682 | ENST00000319190 | RBM6 | chr3 | 50106197 | + | TTC7A | chr2 | 47287908 | + |
5UTR-intron | ENST00000421682 | ENST00000461601 | RBM6 | chr3 | 50106197 | + | TTC7A | chr2 | 47287908 | + |
5UTR-intron | ENST00000421682 | ENST00000394850 | RBM6 | chr3 | 50106197 | + | TTC7A | chr2 | 47287908 | + |
5UTR-intron | ENST00000421682 | ENST00000263737 | RBM6 | chr3 | 50106197 | + | TTC7A | chr2 | 47287908 | + |
5UTR-intron | ENST00000421682 | ENST00000536057 | RBM6 | chr3 | 50106197 | + | TTC7A | chr2 | 47287908 | + |
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FusionProtFeatures for RBM6_TTC7A |
Main function of each fusion partner protein. (from UniProt) |
Hgene | Tgene |
RBM6 | TTC7A |
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}. |
Retention 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 . * 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. |
Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Protein feature | Protein feature note |
- In-frame and not-retained protein feature among the 13 regional features. |
Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Protein feature | Protein feature note |
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FusionGeneSequence for RBM6_TTC7A |
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 |
Go to ChiPPI (Chimeric Protein-Protein interactions) to see the chimeric PPI interaction in . |
Protein-protein interactors with each fusion partner protein in wild-type (BIOGRID-3.4.160) |
Hgene | Hgene's interactors | Tgene | Tgene's interactors |
RBM6 | SIRT7, TAF7, SF3B3, ASB12, ASB18, EEF1G, SHMT2, NXF1, FGL1, HNRNPA1, PPP1CB, EMC2, MATR3, PAPD5, MMGT1, NAGK, MITF, CEPT1, ALS2, ZC3H18, PAK7, TRIM25, BRCA1 | TTC7A | CHMP4B, CDH1, CAMKV, TRIM25 |
- Retained PPIs in in-frame fusion. |
Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Still interaction with |
- Lost PPIs in in-frame fusion. |
Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
- Retained PPIs, but lost function due to frame-shift fusion. |
Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
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RelatedDrugs for RBM6_TTC7A |
Drugs targeting genes involved in this fusion gene. (DrugBank Version 5.1.0 2018-04-02) |
Partner | Gene | UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
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RelatedDiseases for RBM6_TTC7A |
Diseases associated with fusion partners. (DisGeNet 4.0) |
Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
Tgene | TTC7A | C0220744 | Multiple gastrointestinal atresias (disorder) | 6 | ORPHANET;UNIPROT |