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Fusion gene ID: 17940 |
FusionGeneSummary for ITPR1_BHLHE40 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: ITPR1_BHLHE40 | Fusion gene ID: 17940 | Hgene | Tgene | Gene symbol | ITPR1 | BHLHE40 | Gene ID | 3708 | 8553 |
| Gene name | inositol 1,4,5-trisphosphate receptor type 1 | basic helix-loop-helix family member e40 | |
| Synonyms | ACV|CLA4|INSP3R1|IP3R|IP3R1|PPP1R94|SCA15|SCA16|SCA29 | BHLHB2|Clast5|DEC1|HLHB2|SHARP-2|SHARP2|STRA13|Stra14 | |
| Cytomap | 3p26.1 | 3p26.1 | |
| Type of gene | protein-coding | protein-coding | |
| Description | inositol 1,4,5-trisphosphate receptor type 1IP3 receptorIP3R 1inositol 1,4,5-triphosphate receptor, type 1protein phosphatase 1, regulatory subunit 94type 1 InsP3 receptortype 1 inositol 1,4,5-trisphosphate receptor | class E basic helix-loop-helix protein 40basic helix-loop-helix domain containing, class B, 2class B basic helix-loop-helix protein 2differentially expressed in chondrocytes 1differentially expressed in chondrocytes protein 1differentiated embryo cho | |
| Modification date | 20180523 | 20180524 | |
| UniProtAcc | Q14643 | O14503 | |
| Ensembl transtripts involved in fusion gene | ENST00000302640, ENST00000354582, ENST00000423119, ENST00000456211, ENST00000357086, ENST00000544951, ENST00000443694, ENST00000463980, | ENST00000256495, | |
| Fusion gene scores | * DoF score | 7 X 10 X 6=420 | 3 X 4 X 3=36 |
| # samples | 11 | 4 | |
| ** MAII score | log2(11/420*10)=-1.93288580414146 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(4/36*10)=0.15200309344505 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0 | |
| Context | PubMed: ITPR1 [Title/Abstract] AND BHLHE40 [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 | ITPR1 | GO:0001666 | response to hypoxia | 19120137 |
| Hgene | ITPR1 | GO:0050849 | negative regulation of calcium-mediated signaling | 16793548 |
| Tgene | BHLHE40 | GO:0000122 | negative regulation of transcription by RNA polymerase II | 12397359|12624110|14672706|15193144 |
| Tgene | BHLHE40 | GO:0032922 | circadian regulation of gene expression | 18411297 |
| Tgene | BHLHE40 | GO:0043433 | negative regulation of DNA binding transcription factor activity | 18411297 |
| Tgene | BHLHE40 | GO:0045892 | negative regulation of transcription, DNA-templated | 12397359 |
| 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 | LD | LGG | TCGA-DU-A7TA-01A | ITPR1 | chr3 | 4704890 | + | BHLHE40 | chr3 | 5023077 | + |
| TCGA | LD | UCEC | TCGA-D1-A3DH-01A | ITPR1 | chr3 | 4808394 | + | BHLHE40 | chr3 | 5024521 | + |
| * 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 |
| In-frame | ENST00000302640 | ENST00000256495 | ITPR1 | chr3 | 4704890 | + | BHLHE40 | chr3 | 5023077 | + |
| In-frame | ENST00000354582 | ENST00000256495 | ITPR1 | chr3 | 4704890 | + | BHLHE40 | chr3 | 5023077 | + |
| In-frame | ENST00000423119 | ENST00000256495 | ITPR1 | chr3 | 4704890 | + | BHLHE40 | chr3 | 5023077 | + |
| In-frame | ENST00000456211 | ENST00000256495 | ITPR1 | chr3 | 4704890 | + | BHLHE40 | chr3 | 5023077 | + |
| In-frame | ENST00000357086 | ENST00000256495 | ITPR1 | chr3 | 4704890 | + | BHLHE40 | chr3 | 5023077 | + |
| intron-3CDS | ENST00000544951 | ENST00000256495 | ITPR1 | chr3 | 4704890 | + | BHLHE40 | chr3 | 5023077 | + |
| In-frame | ENST00000443694 | ENST00000256495 | ITPR1 | chr3 | 4704890 | + | BHLHE40 | chr3 | 5023077 | + |
| intron-3CDS | ENST00000463980 | ENST00000256495 | ITPR1 | chr3 | 4704890 | + | BHLHE40 | chr3 | 5023077 | + |
| In-frame | ENST00000302640 | ENST00000256495 | ITPR1 | chr3 | 4808394 | + | BHLHE40 | chr3 | 5024521 | + |
| In-frame | ENST00000354582 | ENST00000256495 | ITPR1 | chr3 | 4808394 | + | BHLHE40 | chr3 | 5024521 | + |
| In-frame | ENST00000423119 | ENST00000256495 | ITPR1 | chr3 | 4808394 | + | BHLHE40 | chr3 | 5024521 | + |
| In-frame | ENST00000456211 | ENST00000256495 | ITPR1 | chr3 | 4808394 | + | BHLHE40 | chr3 | 5024521 | + |
| In-frame | ENST00000357086 | ENST00000256495 | ITPR1 | chr3 | 4808394 | + | BHLHE40 | chr3 | 5024521 | + |
| intron-3CDS | ENST00000544951 | ENST00000256495 | ITPR1 | chr3 | 4808394 | + | BHLHE40 | chr3 | 5024521 | + |
| In-frame | ENST00000443694 | ENST00000256495 | ITPR1 | chr3 | 4808394 | + | BHLHE40 | chr3 | 5024521 | + |
| intron-3CDS | ENST00000463980 | ENST00000256495 | ITPR1 | chr3 | 4808394 | + | BHLHE40 | chr3 | 5024521 | + |
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FusionProtFeatures for ITPR1_BHLHE40 |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| ITPR1 | BHLHE40 |