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Fusion gene ID: 8728 |
FusionGeneSummary for CTBP2_IL1RAPL1 |
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Fusion gene information | Fusion gene name: CTBP2_IL1RAPL1 | Fusion gene ID: 8728 | Hgene | Tgene | Gene symbol | CTBP2 | IL1RAPL1 | Gene ID | 1488 | 11141 |
Gene name | C-terminal binding protein 2 | interleukin 1 receptor accessory protein like 1 | |
Synonyms | - | IL-1-RAPL-1|IL-1RAPL-1|IL1R8|IL1RAPL|IL1RAPL-1|MRX10|MRX21|MRX34|OPHN4|TIGIRR-2 | |
Cytomap | 10q26.13 | Xp21.3-p21.2 | |
Type of gene | protein-coding | protein-coding | |
Description | C-terminal-binding protein 2ribeye | interleukin-1 receptor accessory protein-like 1X-linked interleukin-1 receptor accessory protein-like 1interleukin 1 receptor-8mental retardation, X-linked 10oligophrenin-4three immunoglobulin domain-containing IL-1 receptor-related 2 | |
Modification date | 20180524 | 20180519 | |
UniProtAcc | P56545 | Q9NZN1 | |
Ensembl transtripts involved in fusion gene | ENST00000337195, ENST00000531469, ENST00000494626, ENST00000411419, ENST00000476817, ENST00000309035, ENST00000334808, | ENST00000378993, ENST00000302196, | |
Fusion gene scores | * DoF score | 7 X 6 X 6=252 | 3 X 3 X 2=18 |
# samples | 8 | 3 | |
** MAII score | log2(8/252*10)=-1.65535182861255 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). 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: CTBP2 [Title/Abstract] AND IL1RAPL1 [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) |
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Partner | Gene | GO ID | GO term | PubMed ID |
Tgene | IL1RAPL1 | GO:0045920 | negative regulation of exocytosis | 12783849 |
![]() (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 | LD | BRCA | TCGA-A8-A08F-01A | CTBP2 | chr10 | 126848888 | - | IL1RAPL1 | chrX | 29935581 | + |
* LD: Li Ding group's fusion gene list RV: Roel Verhaak group's fusion gene list ChiTaRs fusion database |
![]() * 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 |
5UTR-3CDS | ENST00000337195 | ENST00000378993 | CTBP2 | chr10 | 126848888 | - | IL1RAPL1 | chrX | 29935581 | + |
5UTR-3CDS | ENST00000337195 | ENST00000302196 | CTBP2 | chr10 | 126848888 | - | IL1RAPL1 | chrX | 29935581 | + |
intron-3CDS | ENST00000531469 | ENST00000378993 | CTBP2 | chr10 | 126848888 | - | IL1RAPL1 | chrX | 29935581 | + |
intron-3CDS | ENST00000531469 | ENST00000302196 | CTBP2 | chr10 | 126848888 | - | IL1RAPL1 | chrX | 29935581 | + |
5UTR-3CDS | ENST00000494626 | ENST00000378993 | CTBP2 | chr10 | 126848888 | - | IL1RAPL1 | chrX | 29935581 | + |
5UTR-3CDS | ENST00000494626 | ENST00000302196 | CTBP2 | chr10 | 126848888 | - | IL1RAPL1 | chrX | 29935581 | + |
intron-3CDS | ENST00000411419 | ENST00000378993 | CTBP2 | chr10 | 126848888 | - | IL1RAPL1 | chrX | 29935581 | + |
intron-3CDS | ENST00000411419 | ENST00000302196 | CTBP2 | chr10 | 126848888 | - | IL1RAPL1 | chrX | 29935581 | + |
5UTR-3CDS | ENST00000476817 | ENST00000378993 | CTBP2 | chr10 | 126848888 | - | IL1RAPL1 | chrX | 29935581 | + |
5UTR-3CDS | ENST00000476817 | ENST00000302196 | CTBP2 | chr10 | 126848888 | - | IL1RAPL1 | chrX | 29935581 | + |
intron-3CDS | ENST00000309035 | ENST00000378993 | CTBP2 | chr10 | 126848888 | - | IL1RAPL1 | chrX | 29935581 | + |
intron-3CDS | ENST00000309035 | ENST00000302196 | CTBP2 | chr10 | 126848888 | - | IL1RAPL1 | chrX | 29935581 | + |
intron-3CDS | ENST00000334808 | ENST00000378993 | CTBP2 | chr10 | 126848888 | - | IL1RAPL1 | chrX | 29935581 | + |
intron-3CDS | ENST00000334808 | ENST00000302196 | CTBP2 | chr10 | 126848888 | - | IL1RAPL1 | chrX | 29935581 | + |
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FusionProtFeatures for CTBP2_IL1RAPL1 |
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Hgene | Tgene |
CTBP2 | IL1RAPL1 |
May regulate secretion and presynaptic differentiationthrough inhibition of the activity of N-type voltage-gated calciumchannel (PubMed:12783849). May activate the MAP kinase JNK(PubMed:15123616). Plays a role in neurite outgrowth (Bysimilarity). During dendritic spine formation can bidirectionallyinduce pre- and post-synaptic differentiation of neurons by trans-synaptically binding to PTPRD (By similarity).{ECO:0000250|UniProtKB:P59823, ECO:0000250|UniProtKB:P59824,ECO:0000269|PubMed:12783849, ECO:0000269|PubMed:15123616}. |
![]() * 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 CTBP2_IL1RAPL1 |
![]() (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 CTBP2_IL1RAPL1 |
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Hgene | Hgene's interactors | Tgene | Tgene's interactors |
CTBP2 | KLF8, BAZ2B, RAI2, TEAD3, NOL4, AKTIP, TGIF1, NRIP1, PSMF1, MDM2, CBX4, CTBP2, CTBP1, FHL3, KLF3, SOX6, ZEB1, ZFPM2, EP300, EHMT2, ZNF217, RCOR1, HDAC2, HIC1, EHMT1, WIZ, LCOR, KAT2B, BCL3, HIST3H3, ZBP1, SOX2, CDKN2A, UBC, ATXN1L, RUNX1, APP, ECT2, STUB1, ZNF512B, CCNH, PROX1, PPP1R15A, SOX13, CTPS2, CASP8AP2, C15orf39, RPL7A, XRCC6, DVL2, RBBP8, RPL17, RPS4X, RPS28, RPS29, UBE2I, STX11, ZFPM1, CCR5, ACTG1, DYRK1B, DDX19B, SGTA, TRNT1, SMAD6, SPRTN, FLI1, HOXB5, IKZF1, ZBTB18, IKZF2, PLCB1, BCAS3, TSHZ3, DMRTB1, ZNF750, RIMBP3, FOXP2, FUNDC1, NOL4L, EGFR, VSX1, CTPS1, MED23, MARK3, MVD, RBM4, ZC3H3, GPALPP1, CWC22, RBM26, RAB11FIP1, KCNIP3, FOXB1, FOXE1, FOXI2, FOXP1, FOXQ1, FOXS1, CDC25C, MTMR7, ZBTB42, IGFBP1, MRPS7, KIAA0430, HELZ, TRIM25, UHRF2 | IL1RAPL1 | NCS1, CFTR |
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Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Still interaction with |
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Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
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Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
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RelatedDrugs for CTBP2_IL1RAPL1 |
![]() (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 CTBP2_IL1RAPL1 |
![]() (DisGeNet 4.0) |
Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
Hgene | CTBP2 | C0033578 | Prostatic Neoplasms | 1 | CTD_human |
Tgene | IL1RAPL1 | C0004352 | Autistic Disorder | 2 | CTD_human;HPO |
Tgene | IL1RAPL1 | C0025202 | melanoma | 1 | CTD_human |
Tgene | IL1RAPL1 | C0809983 | Schizophrenia and related disorders | 1 | PSYGENET |
Tgene | IL1RAPL1 | C1136249 | Mental Retardation, X-Linked | 1 | CTD_human |
Tgene | IL1RAPL1 | C1510586 | Autism Spectrum Disorders | 1 | CTD_human |