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Fusion gene ID: 20547 |
FusionGeneSummary for MAEA_CTBP1 |
Fusion gene summary |
Fusion gene information | Fusion gene name: MAEA_CTBP1 | Fusion gene ID: 20547 | Hgene | Tgene | Gene symbol | MAEA | CTBP1 | Gene ID | 10296 | 1487 |
Gene name | macrophage erythroblast attacher | C-terminal binding protein 1 | |
Synonyms | EMLP|EMP|GID9|HLC-10|PIG5 | BARS|HADDTS | |
Cytomap | 4p16.3 | 4p16.3 | |
Type of gene | protein-coding | protein-coding | |
Description | macrophage erythroblast attacherGID complex subunit 9, FYV10 homologcell proliferation-inducing gene 5 proteinerythroblast macrophage proteinhuman lung cancer oncogene 10 proteinlung cancer-related protein 10 | C-terminal-binding protein 1brefeldin A-ribosylated substrate | |
Modification date | 20180523 | 20180522 | |
UniProtAcc | Q7L5Y9 | Q13363 | |
Ensembl transtripts involved in fusion gene | ENST00000303400, ENST00000505177, ENST00000264750, ENST00000452175, ENST00000514708, ENST00000510794, ENST00000505839, ENST00000512289, | ENST00000382952, ENST00000290921, ENST00000510568, ENST00000515690, | |
Fusion gene scores | * DoF score | 3 X 6 X 4=72 | 8 X 7 X 8=448 |
# samples | 6 | 12 | |
** MAII score | log2(6/72*10)=-0.263034405833794 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(12/448*10)=-1.90046432644909 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
Context | PubMed: MAEA [Title/Abstract] AND CTBP1 [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) |
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 |
Hgene | MAEA | GO:0007155 | cell adhesion | 9763581 |
Hgene | MAEA | GO:0033033 | negative regulation of myeloid cell apoptotic process | 9763581 |
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 | COAD | TCGA-D5-6531-01A | MAEA | chr4 | 1283770 | + | CTBP1 | chr4 | 1235307 | - |
TCGA | RV | LAML | TCGA-AB-2811-03B | MAEA | chr4 | 1316291 | + | CTBP1 | chr4 | 1235307 | - |
* 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 |
5CDS-5UTR | ENST00000303400 | ENST00000382952 | MAEA | chr4 | 1283770 | + | CTBP1 | chr4 | 1235307 | - |
5CDS-intron | ENST00000303400 | ENST00000290921 | MAEA | chr4 | 1283770 | + | CTBP1 | chr4 | 1235307 | - |
5CDS-5UTR | ENST00000303400 | ENST00000510568 | MAEA | chr4 | 1283770 | + | CTBP1 | chr4 | 1235307 | - |
5CDS-intron | ENST00000303400 | ENST00000515690 | MAEA | chr4 | 1283770 | + | CTBP1 | chr4 | 1235307 | - |
5CDS-5UTR | ENST00000505177 | ENST00000382952 | MAEA | chr4 | 1283770 | + | CTBP1 | chr4 | 1235307 | - |
5CDS-intron | ENST00000505177 | ENST00000290921 | MAEA | chr4 | 1283770 | + | CTBP1 | chr4 | 1235307 | - |
5CDS-5UTR | ENST00000505177 | ENST00000510568 | MAEA | chr4 | 1283770 | + | CTBP1 | chr4 | 1235307 | - |
5CDS-intron | ENST00000505177 | ENST00000515690 | MAEA | chr4 | 1283770 | + | CTBP1 | chr4 | 1235307 | - |
5CDS-5UTR | ENST00000264750 | ENST00000382952 | MAEA | chr4 | 1283770 | + | CTBP1 | chr4 | 1235307 | - |
5CDS-intron | ENST00000264750 | ENST00000290921 | MAEA | chr4 | 1283770 | + | CTBP1 | chr4 | 1235307 | - |
5CDS-5UTR | ENST00000264750 | ENST00000510568 | MAEA | chr4 | 1283770 | + | CTBP1 | chr4 | 1235307 | - |
5CDS-intron | ENST00000264750 | ENST00000515690 | MAEA | chr4 | 1283770 | + | CTBP1 | chr4 | 1235307 | - |
5CDS-5UTR | ENST00000452175 | ENST00000382952 | MAEA | chr4 | 1283770 | + | CTBP1 | chr4 | 1235307 | - |
5CDS-intron | ENST00000452175 | ENST00000290921 | MAEA | chr4 | 1283770 | + | CTBP1 | chr4 | 1235307 | - |
5CDS-5UTR | ENST00000452175 | ENST00000510568 | MAEA | chr4 | 1283770 | + | CTBP1 | chr4 | 1235307 | - |
5CDS-intron | ENST00000452175 | ENST00000515690 | MAEA | chr4 | 1283770 | + | CTBP1 | chr4 | 1235307 | - |
5CDS-5UTR | ENST00000514708 | ENST00000382952 | MAEA | chr4 | 1283770 | + | CTBP1 | chr4 | 1235307 | - |
5CDS-intron | ENST00000514708 | ENST00000290921 | MAEA | chr4 | 1283770 | + | CTBP1 | chr4 | 1235307 | - |
5CDS-5UTR | ENST00000514708 | ENST00000510568 | MAEA | chr4 | 1283770 | + | CTBP1 | chr4 | 1235307 | - |
5CDS-intron | ENST00000514708 | ENST00000515690 | MAEA | chr4 | 1283770 | + | CTBP1 | chr4 | 1235307 | - |
intron-5UTR | ENST00000510794 | ENST00000382952 | MAEA | chr4 | 1283770 | + | CTBP1 | chr4 | 1235307 | - |
intron-intron | ENST00000510794 | ENST00000290921 | MAEA | chr4 | 1283770 | + | CTBP1 | chr4 | 1235307 | - |
intron-5UTR | ENST00000510794 | ENST00000510568 | MAEA | chr4 | 1283770 | + | CTBP1 | chr4 | 1235307 | - |
intron-intron | ENST00000510794 | ENST00000515690 | MAEA | chr4 | 1283770 | + | CTBP1 | chr4 | 1235307 | - |
intron-5UTR | ENST00000505839 | ENST00000382952 | MAEA | chr4 | 1283770 | + | CTBP1 | chr4 | 1235307 | - |
intron-intron | ENST00000505839 | ENST00000290921 | MAEA | chr4 | 1283770 | + | CTBP1 | chr4 | 1235307 | - |
intron-5UTR | ENST00000505839 | ENST00000510568 | MAEA | chr4 | 1283770 | + | CTBP1 | chr4 | 1235307 | - |
intron-intron | ENST00000505839 | ENST00000515690 | MAEA | chr4 | 1283770 | + | CTBP1 | chr4 | 1235307 | - |
intron-5UTR | ENST00000512289 | ENST00000382952 | MAEA | chr4 | 1283770 | + | CTBP1 | chr4 | 1235307 | - |
intron-intron | ENST00000512289 | ENST00000290921 | MAEA | chr4 | 1283770 | + | CTBP1 | chr4 | 1235307 | - |
intron-5UTR | ENST00000512289 | ENST00000510568 | MAEA | chr4 | 1283770 | + | CTBP1 | chr4 | 1235307 | - |
intron-intron | ENST00000512289 | ENST00000515690 | MAEA | chr4 | 1283770 | + | CTBP1 | chr4 | 1235307 | - |
5CDS-5UTR | ENST00000303400 | ENST00000382952 | MAEA | chr4 | 1316291 | + | CTBP1 | chr4 | 1235307 | - |
5CDS-intron | ENST00000303400 | ENST00000290921 | MAEA | chr4 | 1316291 | + | CTBP1 | chr4 | 1235307 | - |
5CDS-5UTR | ENST00000303400 | ENST00000510568 | MAEA | chr4 | 1316291 | + | CTBP1 | chr4 | 1235307 | - |
5CDS-intron | ENST00000303400 | ENST00000515690 | MAEA | chr4 | 1316291 | + | CTBP1 | chr4 | 1235307 | - |
5CDS-5UTR | ENST00000505177 | ENST00000382952 | MAEA | chr4 | 1316291 | + | CTBP1 | chr4 | 1235307 | - |
5CDS-intron | ENST00000505177 | ENST00000290921 | MAEA | chr4 | 1316291 | + | CTBP1 | chr4 | 1235307 | - |
5CDS-5UTR | ENST00000505177 | ENST00000510568 | MAEA | chr4 | 1316291 | + | CTBP1 | chr4 | 1235307 | - |
5CDS-intron | ENST00000505177 | ENST00000515690 | MAEA | chr4 | 1316291 | + | CTBP1 | chr4 | 1235307 | - |
intron-5UTR | ENST00000264750 | ENST00000382952 | MAEA | chr4 | 1316291 | + | CTBP1 | chr4 | 1235307 | - |
intron-intron | ENST00000264750 | ENST00000290921 | MAEA | chr4 | 1316291 | + | CTBP1 | chr4 | 1235307 | - |
intron-5UTR | ENST00000264750 | ENST00000510568 | MAEA | chr4 | 1316291 | + | CTBP1 | chr4 | 1235307 | - |
intron-intron | ENST00000264750 | ENST00000515690 | MAEA | chr4 | 1316291 | + | CTBP1 | chr4 | 1235307 | - |
5CDS-5UTR | ENST00000452175 | ENST00000382952 | MAEA | chr4 | 1316291 | + | CTBP1 | chr4 | 1235307 | - |
5CDS-intron | ENST00000452175 | ENST00000290921 | MAEA | chr4 | 1316291 | + | CTBP1 | chr4 | 1235307 | - |
5CDS-5UTR | ENST00000452175 | ENST00000510568 | MAEA | chr4 | 1316291 | + | CTBP1 | chr4 | 1235307 | - |
5CDS-intron | ENST00000452175 | ENST00000515690 | MAEA | chr4 | 1316291 | + | CTBP1 | chr4 | 1235307 | - |
intron-5UTR | ENST00000514708 | ENST00000382952 | MAEA | chr4 | 1316291 | + | CTBP1 | chr4 | 1235307 | - |
intron-intron | ENST00000514708 | ENST00000290921 | MAEA | chr4 | 1316291 | + | CTBP1 | chr4 | 1235307 | - |
intron-5UTR | ENST00000514708 | ENST00000510568 | MAEA | chr4 | 1316291 | + | CTBP1 | chr4 | 1235307 | - |
intron-intron | ENST00000514708 | ENST00000515690 | MAEA | chr4 | 1316291 | + | CTBP1 | chr4 | 1235307 | - |
5CDS-5UTR | ENST00000510794 | ENST00000382952 | MAEA | chr4 | 1316291 | + | CTBP1 | chr4 | 1235307 | - |
5CDS-intron | ENST00000510794 | ENST00000290921 | MAEA | chr4 | 1316291 | + | CTBP1 | chr4 | 1235307 | - |
5CDS-5UTR | ENST00000510794 | ENST00000510568 | MAEA | chr4 | 1316291 | + | CTBP1 | chr4 | 1235307 | - |
5CDS-intron | ENST00000510794 | ENST00000515690 | MAEA | chr4 | 1316291 | + | CTBP1 | chr4 | 1235307 | - |
5CDS-5UTR | ENST00000505839 | ENST00000382952 | MAEA | chr4 | 1316291 | + | CTBP1 | chr4 | 1235307 | - |
5CDS-intron | ENST00000505839 | ENST00000290921 | MAEA | chr4 | 1316291 | + | CTBP1 | chr4 | 1235307 | - |
5CDS-5UTR | ENST00000505839 | ENST00000510568 | MAEA | chr4 | 1316291 | + | CTBP1 | chr4 | 1235307 | - |
5CDS-intron | ENST00000505839 | ENST00000515690 | MAEA | chr4 | 1316291 | + | CTBP1 | chr4 | 1235307 | - |
intron-5UTR | ENST00000512289 | ENST00000382952 | MAEA | chr4 | 1316291 | + | CTBP1 | chr4 | 1235307 | - |
intron-intron | ENST00000512289 | ENST00000290921 | MAEA | chr4 | 1316291 | + | CTBP1 | chr4 | 1235307 | - |
intron-5UTR | ENST00000512289 | ENST00000510568 | MAEA | chr4 | 1316291 | + | CTBP1 | chr4 | 1235307 | - |
intron-intron | ENST00000512289 | ENST00000515690 | MAEA | chr4 | 1316291 | + | CTBP1 | chr4 | 1235307 | - |
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FusionProtFeatures for MAEA_CTBP1 |
Main function of each fusion partner protein. (from UniProt) |
Hgene | Tgene |
MAEA | CTBP1 |
Plays a role in erythroblast enucleation and in thedevelopment of the mature macrophages. Mediates the attachment oferythroid cell to mature macrophages, in correlation with thepresence of MAEA at cell surface of mature macrophages; This MAEA-mediated contact inhibits erythroid cells apoptosis. Participatesin erythroblastic island formation, which is the functional unitof definitive erythropoiesis. Associates with F-actin to regulateactin distribution in erythroblasts and macrophages. Maycontribute to nuclear architecture and cells division events.{ECO:0000269|PubMed:16510120, ECO:0000269|PubMed:9763581}. | Corepressor targeting diverse transcription regulatorssuch as GLIS2 or BCL6. Has dehydrogenase activity. Involved incontrolling the equilibrium between tubular and stacked structuresin the Golgi complex. Functions in brown adipose tissue (BAT)differentiation. {ECO:0000269|PubMed:12419229,ECO:0000269|PubMed:15542832, ECO:0000269|PubMed:18212045,ECO:0000269|PubMed:19103759, ECO:0000269|PubMed:9858600}. |
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 MAEA_CTBP1 |
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 MAEA_CTBP1 |
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 |
MAEA | UBC, MYOC, GRK5, RANBP9, MKLN1, GID8, RMND5A, FLOT1, SOX2, CLIP1, GDNF, GLIPR1L2, MMP7, SFRP2, TDGF1, MRPL4, GPS2, PRG2, BMP1, CCDC120, INSL6, PRICKLE3, PIGT, MRPL38, JPH4, PRG3, PDGFD, TMEM70, TIGD5, PTPN14, RANBP10, RMND5B, ARMC8, WDR26, HTRA2, GID4, DDX5, CCDC51, YPEL5, RAB8A, EFHC2, WWC1 | CTBP1 | PNN, IKZF1, SMAD6, RBBP8, TGIF1, NRIP1, MDM2, HDAC1, HDAC3, HDAC4, HDAC5, HDAC9, BRCA1, HDAC2, KAT2B, GEMIN2, TBP, GTF2B, FOXP1, FOXP2, KMT2A, CBX4, MECOM, IKZF4, CTBP2, ZEB1, ACTL6B, HTT, TBL1X, ZNF217, RCOR1, SATB1, CTBP1, TCF4, LCOR, TP53, HIC1, EHMT2, EHMT1, WIZ, APC, PLK1, TUBG1, HSD11B2, TCF7L2, KDM1A, CREBBP, EP300, KAT2A, SP1, RREB1, CDYL, UBE2I, BCORL1, SERPINH1, BCL3, AKT1, HIST3H3, SPEN, ZBP1, SOBP, ZNF219, LCORL, CHD3, RBBP5, CTNNA1, SOX2, ELAVL1, ZEB2, TERF2IP, TERF2, TFAP4, ATXN1L, BCL6, NCOR2, ECT2, CTNNB1, KLF4, DNMT1, RUNX1, BAG3, THAP11, HEMGN, NME2, ORC4, ARNT2, NOL4L, KLF12, MARCH10, CDC23, FUNDC1, IKZF2, KLF3, LNX1, PIAS2, RAI2, RNF111, ZBTB18, CEP68, NOL4, DGCR6, SNRPN, CRY2, HOXB5, PRKAA1, MAPK9, PLCB1, BCAS3, TSHZ3, DMRTB1, EGFR, HIC2, PRDM2, ZNF516, DYRK1A, TRPS1, C10orf12, BCOR, FBXO11, RCOR2, RCOR3, C2orf44, RBL1, INA, RB1, E2F7, TRMT61B, FOXK1, C15orf39, AMPD2, TOR2A, ADSS, ATIC, CARM1, CTH, ECHS1, FKBP1A, GAPDH, DUT, HYI, SSNA1, WDR1, NTRK1, MED23, OFD1, FBF1, KCNIP3, KLF8, NFATC1, NFATC2, MTMR7, RBM14-RBM4, IGFBP1, CHD4, NISCH, KIAA0430, HELZ, PCGF5, SOWAHA, PAN2, EIF4ENIF1, FANCC, FANCA, FANCF, FANCG, FANCL, FANCE, FANCD2, 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 MAEA_CTBP1 |
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 MAEA_CTBP1 |
Diseases associated with fusion partners. (DisGeNet 4.0) |
Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
Hgene | MAEA | C0011860 | Diabetes Mellitus, Non-Insulin-Dependent | 1 | CTD_human |
Tgene | CTBP1 | C0009404 | Colorectal Neoplasms | 1 | CTD_human |