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Fusion gene ID: 10927 |
FusionGeneSummary for EDEM1_ITPR1 |
Fusion gene summary |
Fusion gene information | Fusion gene name: EDEM1_ITPR1 | Fusion gene ID: 10927 | Hgene | Tgene | Gene symbol | EDEM1 | ITPR1 | Gene ID | 9695 | 3708 |
Gene name | ER degradation enhancing alpha-mannosidase like protein 1 | inositol 1,4,5-trisphosphate receptor type 1 | |
Synonyms | EDEM | ACV|CLA4|INSP3R1|IP3R|IP3R1|PPP1R94|SCA15|SCA16|SCA29 | |
Cytomap | 3p26.1 | 3p26.1 | |
Type of gene | protein-coding | protein-coding | |
Description | ER degradation-enhancing alpha-mannosidase-like protein 1ER degradation enhancer, mannosidase alpha-like 1ER degradation-enhancing alpha-mannosidase-like 1 | 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 | |
Modification date | 20180522 | 20180523 | |
UniProtAcc | Q92611 | Q14643 | |
Ensembl transtripts involved in fusion gene | ENST00000256497, ENST00000445686, | ENST00000302640, ENST00000354582, ENST00000423119, ENST00000456211, ENST00000357086, ENST00000544951, ENST00000443694, ENST00000463980, | |
Fusion gene scores | * DoF score | 2 X 2 X 2=8 | 8 X 8 X 7=448 |
# samples | 2 | 15 | |
** MAII score | log2(2/8*10)=1.32192809488736 | log2(15/448*10)=-1.57853623156172 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
Context | PubMed: EDEM1 [Title/Abstract] AND ITPR1 [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 |
Tgene | ITPR1 | GO:0001666 | response to hypoxia | 19120137 |
Tgene | ITPR1 | GO:0050849 | negative regulation of calcium-mediated signaling | 16793548 |
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 | UCEC | TCGA-AP-A5FX-01A | EDEM1 | chr3 | 5236966 | + | ITPR1 | chr3 | 4887823 | + |
* 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 | ENST00000256497 | ENST00000302640 | EDEM1 | chr3 | 5236966 | + | ITPR1 | chr3 | 4887823 | + |
Frame-shift | ENST00000256497 | ENST00000354582 | EDEM1 | chr3 | 5236966 | + | ITPR1 | chr3 | 4887823 | + |
Frame-shift | ENST00000256497 | ENST00000423119 | EDEM1 | chr3 | 5236966 | + | ITPR1 | chr3 | 4887823 | + |
In-frame | ENST00000256497 | ENST00000456211 | EDEM1 | chr3 | 5236966 | + | ITPR1 | chr3 | 4887823 | + |
In-frame | ENST00000256497 | ENST00000357086 | EDEM1 | chr3 | 5236966 | + | ITPR1 | chr3 | 4887823 | + |
Frame-shift | ENST00000256497 | ENST00000544951 | EDEM1 | chr3 | 5236966 | + | ITPR1 | chr3 | 4887823 | + |
In-frame | ENST00000256497 | ENST00000443694 | EDEM1 | chr3 | 5236966 | + | ITPR1 | chr3 | 4887823 | + |
5CDS-3UTR | ENST00000256497 | ENST00000463980 | EDEM1 | chr3 | 5236966 | + | ITPR1 | chr3 | 4887823 | + |
5UTR-3CDS | ENST00000445686 | ENST00000302640 | EDEM1 | chr3 | 5236966 | + | ITPR1 | chr3 | 4887823 | + |
5UTR-3CDS | ENST00000445686 | ENST00000354582 | EDEM1 | chr3 | 5236966 | + | ITPR1 | chr3 | 4887823 | + |
5UTR-3CDS | ENST00000445686 | ENST00000423119 | EDEM1 | chr3 | 5236966 | + | ITPR1 | chr3 | 4887823 | + |
5UTR-3CDS | ENST00000445686 | ENST00000456211 | EDEM1 | chr3 | 5236966 | + | ITPR1 | chr3 | 4887823 | + |
5UTR-3CDS | ENST00000445686 | ENST00000357086 | EDEM1 | chr3 | 5236966 | + | ITPR1 | chr3 | 4887823 | + |
5UTR-3CDS | ENST00000445686 | ENST00000544951 | EDEM1 | chr3 | 5236966 | + | ITPR1 | chr3 | 4887823 | + |
5UTR-3CDS | ENST00000445686 | ENST00000443694 | EDEM1 | chr3 | 5236966 | + | ITPR1 | chr3 | 4887823 | + |
5UTR-3UTR | ENST00000445686 | ENST00000463980 | EDEM1 | chr3 | 5236966 | + | ITPR1 | chr3 | 4887823 | + |
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FusionProtFeatures for EDEM1_ITPR1 |
Main function of each fusion partner protein. (from UniProt) |
Hgene | Tgene |
EDEM1 | ITPR1 |
Extracts misfolded glycoproteins, but not glycoproteinsundergoing productive folding, from the calnexin cycle. It isdirectly involved in endoplasmic reticulum-associated degradation(ERAD) and targets misfolded glycoproteins for degradation in anN-glycan-independent manner, probably by forming a complex withSEL1L. It has low mannosidase activity, catalyzing mannosetrimming from Man8GlcNAc2 to Man7GlcNAc2.{ECO:0000269|PubMed:12610306, ECO:0000269|PubMed:19524542,ECO:0000269|PubMed:19934218, ECO:0000269|PubMed:25092655}. | Intracellular channel that mediates calcium release fromthe endoplasmic reticulum following stimulation by inositol 1,4,5-trisphosphate (PubMed:27108797). Involved in the regulation ofepithelial secretion of electrolytes and fluid through theinteraction with AHCYL1 (By similarity). Plays a role in ERstress-induced apoptosis. Cytoplasmic calcium released from the ERtriggers apoptosis by the activation of CaM kinase II, eventuallyleading to the activation of downstream apoptosis pathways (Bysimilarity). {ECO:0000250|UniProtKB:P11881,ECO:0000269|PubMed:27108797}. |
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 EDEM1_ITPR1 |
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. |
>In-frame_EDEM1_ENST00000256497_chr3_5236966_+_ITPR1_ENST00000456211_chr3_4887823_+_223aa MQWRALVLGLVLLRLGLHGVLWLVFGLGPSMGFYQRFPLSFGFQRLRSPDGPASPTSGPVGRPGGVSGPSWLQPPGTGAAQSPRKAPRRP GPGMCGPANWGYVLGGRGRGPDEYEKRYSGAFPPQLRAQMRDLARGMFVFGYDNYMAHAFPQDELNPIHCRGRGPDRGDPSNLNINDVLG >In-frame_EDEM1_ENST00000256497_chr3_5236966_+_ITPR1_ENST00000357086_chr3_4887823_+_223aa MQWRALVLGLVLLRLGLHGVLWLVFGLGPSMGFYQRFPLSFGFQRLRSPDGPASPTSGPVGRPGGVSGPSWLQPPGTGAAQSPRKAPRRP GPGMCGPANWGYVLGGRGRGPDEYEKRYSGAFPPQLRAQMRDLARGMFVFGYDNYMAHAFPQDELNPIHCRGRGPDRGDPSNLNINDVLG >In-frame_EDEM1_ENST00000256497_chr3_5236966_+_ITPR1_ENST00000443694_chr3_4887823_+_223aa MQWRALVLGLVLLRLGLHGVLWLVFGLGPSMGFYQRFPLSFGFQRLRSPDGPASPTSGPVGRPGGVSGPSWLQPPGTGAAQSPRKAPRRP GPGMCGPANWGYVLGGRGRGPDEYEKRYSGAFPPQLRAQMRDLARGMFVFGYDNYMAHAFPQDELNPIHCRGRGPDRGDPSNLNINDVLG |
* Fusion transcript sequences (only coding sequence (CDS) region). |
>In-frame_EDEM1_ENST00000256497_chr3_5236966_+_ITPR1_ENST00000456211_chr3_4887823_+_669nt ATGCAATGGCGAGCGCTCGTCCTGGGGCTGGTGCTCCTCCGGCTTGGCCTCCATGGAGTATTGTGGCTCGTCTTCGGGCTGGGGCCCAGC ATGGGCTTCTACCAGCGCTTTCCGCTCAGCTTCGGCTTCCAGCGTCTGAGGAGCCCCGACGGCCCCGCGTCGCCCACCTCGGGGCCCGTG GGCCGGCCTGGGGGGGTATCCGGGCCGTCGTGGCTGCAGCCGCCGGGGACCGGGGCAGCGCAGAGCCCGCGCAAGGCTCCGCGGCGTCCT GGGCCGGGGATGTGCGGCCCAGCCAACTGGGGCTACGTGCTGGGCGGCCGGGGCCGCGGCCCGGACGAGTACGAGAAGCGCTACAGCGGC GCCTTCCCTCCGCAGCTGCGTGCCCAGATGCGCGACCTGGCACGGGGCATGTTCGTCTTTGGCTACGACAACTACATGGCTCACGCCTTC CCCCAGGACGAGCTCAACCCCATCCACTGCCGCGGCCGTGGGCCCGACCGCGGGGACCCTTCAAATCTGAACATCAATGATGTACTAGGG AACTACTCATTGACTCTTGTTGATGCATTGGATACACTTGCAATGACAGAACAAAGGAAGCAGAAACAAAGAATTGGTCTTCTAGGACAT >In-frame_EDEM1_ENST00000256497_chr3_5236966_+_ITPR1_ENST00000357086_chr3_4887823_+_669nt ATGCAATGGCGAGCGCTCGTCCTGGGGCTGGTGCTCCTCCGGCTTGGCCTCCATGGAGTATTGTGGCTCGTCTTCGGGCTGGGGCCCAGC ATGGGCTTCTACCAGCGCTTTCCGCTCAGCTTCGGCTTCCAGCGTCTGAGGAGCCCCGACGGCCCCGCGTCGCCCACCTCGGGGCCCGTG GGCCGGCCTGGGGGGGTATCCGGGCCGTCGTGGCTGCAGCCGCCGGGGACCGGGGCAGCGCAGAGCCCGCGCAAGGCTCCGCGGCGTCCT GGGCCGGGGATGTGCGGCCCAGCCAACTGGGGCTACGTGCTGGGCGGCCGGGGCCGCGGCCCGGACGAGTACGAGAAGCGCTACAGCGGC GCCTTCCCTCCGCAGCTGCGTGCCCAGATGCGCGACCTGGCACGGGGCATGTTCGTCTTTGGCTACGACAACTACATGGCTCACGCCTTC CCCCAGGACGAGCTCAACCCCATCCACTGCCGCGGCCGTGGGCCCGACCGCGGGGACCCTTCAAATCTGAACATCAATGATGTACTAGGG AACTACTCATTGACTCTTGTTGATGCATTGGATACACTTGCAATGACAGAACAAAGGAAGCAGAAACAAAGAATTGGTCTTCTAGGACAT >In-frame_EDEM1_ENST00000256497_chr3_5236966_+_ITPR1_ENST00000443694_chr3_4887823_+_669nt ATGCAATGGCGAGCGCTCGTCCTGGGGCTGGTGCTCCTCCGGCTTGGCCTCCATGGAGTATTGTGGCTCGTCTTCGGGCTGGGGCCCAGC ATGGGCTTCTACCAGCGCTTTCCGCTCAGCTTCGGCTTCCAGCGTCTGAGGAGCCCCGACGGCCCCGCGTCGCCCACCTCGGGGCCCGTG GGCCGGCCTGGGGGGGTATCCGGGCCGTCGTGGCTGCAGCCGCCGGGGACCGGGGCAGCGCAGAGCCCGCGCAAGGCTCCGCGGCGTCCT GGGCCGGGGATGTGCGGCCCAGCCAACTGGGGCTACGTGCTGGGCGGCCGGGGCCGCGGCCCGGACGAGTACGAGAAGCGCTACAGCGGC GCCTTCCCTCCGCAGCTGCGTGCCCAGATGCGCGACCTGGCACGGGGCATGTTCGTCTTTGGCTACGACAACTACATGGCTCACGCCTTC CCCCAGGACGAGCTCAACCCCATCCACTGCCGCGGCCGTGGGCCCGACCGCGGGGACCCTTCAAATCTGAACATCAATGATGTACTAGGG AACTACTCATTGACTCTTGTTGATGCATTGGATACACTTGCAATGACAGAACAAAGGAAGCAGAAACAAAGAATTGGTCTTCTAGGACAT |
* Fusion transcript sequences (Full-length transcript). |
>In-frame_EDEM1_ENST00000256497_chr3_5236966_+_ITPR1_ENST00000456211_chr3_4887823_+_2179nt GGCTAGTTCCTGGTGCGTCACGGGGGAGTTCCTTAAAGGGGAAGCGAGCCGGGCTACGGGGCGAGCGCGGGGTGCGGTGGTCGGCGGGGA GGCCCCCGCGCTTTAAAATAATGCCCGCGGCGCCCGCGCGACCATGCAATGGCGAGCGCTCGTCCTGGGGCTGGTGCTCCTCCGGCTTGG CCTCCATGGAGTATTGTGGCTCGTCTTCGGGCTGGGGCCCAGCATGGGCTTCTACCAGCGCTTTCCGCTCAGCTTCGGCTTCCAGCGTCT GAGGAGCCCCGACGGCCCCGCGTCGCCCACCTCGGGGCCCGTGGGCCGGCCTGGGGGGGTATCCGGGCCGTCGTGGCTGCAGCCGCCGGG GACCGGGGCAGCGCAGAGCCCGCGCAAGGCTCCGCGGCGTCCTGGGCCGGGGATGTGCGGCCCAGCCAACTGGGGCTACGTGCTGGGCGG CCGGGGCCGCGGCCCGGACGAGTACGAGAAGCGCTACAGCGGCGCCTTCCCTCCGCAGCTGCGTGCCCAGATGCGCGACCTGGCACGGGG CATGTTCGTCTTTGGCTACGACAACTACATGGCTCACGCCTTCCCCCAGGACGAGCTCAACCCCATCCACTGCCGCGGCCGTGGGCCCGA CCGCGGGGACCCTTCAAATCTGAACATCAATGATGTACTAGGGAACTACTCATTGACTCTTGTTGATGCATTGGATACACTTGCAATGAC AGAACAAAGGAAGCAGAAACAAAGAATTGGTCTTCTAGGACATCCTCCTCACATGAATGTCAACCCACAACAACCAGCATAAGCAAATGA AAGAAAGGAATTGTATTTACCTTTTATAATTATTATTAGTGTGGGTATGGCTAATGAGTTCTGATTCACCCACGAAGGTTACATTTATGC TGAATACATTTGTAAATACTCAGTTTTATACTGTATGTATATGATTGCTACTCTAAAGGTTTGGATATATGTATTGTAATTAGAATTGTT GGCATGATGACATTTCATTTGTGCCAAAAATATTAAAAATGCCTTTTTTGGAAGGACTAACAGAAAGCACCTGATTTGCACTTGAACCAG ATTATAGATTTAAAAGTATATGACATGTATTTTGTATTTAAAACTAGAATAGCCAGTATTTATGTTTTTTATAAAACTGTGCAATACGAA TTATGCAATCACAATACATTTGTAGCTCCCGAGTGTCCTAAAGGGAGTGCACTTCTTTGAAGCTGGTGTGTTAATACTATGTAATAAATG GTTAACTTTCAAATGATGCTGCTGCCAAAATTATATTAATAGTGAGTTTCAGGCCCCTGGGCATTTTGTACCATGTAATTATCCTCTGGT GATGCTGTTTCTCGTTAGTGGCAGTAGTGCCTCCGTCTCCTAGTGATAATGCTCCAAGTCTATGAACTGTTAAATCAGCATTCATTTTAA GAAAAGCAACTTTAGTTTCAAAGATACTTTTAAGCTTCTAAATTGATCATTTAAACTATTTCTTTAAATAAGAGAGCCAAATTAGAGGCT CATACTTTAGCTTGTGAAGAAGATAATGAATTTTTTAAAGGGAACTTTCTATGCAATGTTCAGGATAAATGCATACTGCTGGCCAATCAG TGTCATCTCCTGGGTAAATTTTGATGTCGCATTATAAAGACATGCATAATTGATGGTTTCTAGATTATCTAGTCCAAACAATAGAGTTTA TTTTTTCTTCATCTGAACCAACATGCTACAGTAGCTAAGAAGTATTAAAACTATATACATCCATATAAAGATGAAATATGAACTATCTCA TTAGAAGTCATAGTTGACCACAGACATGTTATTCTTCTGAAAGAGCCACATTTTGGTTTTATTTCTTGTCACATGATTTCTTTTCTTGAT GGATGAAAAATATGAAAGGAAACTTTTATATCTGTTGCCTAGTTTTGTACATGGATCTCATTTTACAAGAGAATCTCTCTGCAAAAAAAA AAAAAACAGTTTAAAAATGCATTGAAAGCAGAGTTCTGAAATGAGTAAAGTTTGTAAATGCATATATAAAAATATTTAATAAATGATGCA GAATATACAGTGACTGGTTGGTGGCTTTCATTTGGCATTTGTGACTTAACTGCTATTCCATTTATGTACTTTCTTTAGGATCAGTTTGAA >In-frame_EDEM1_ENST00000256497_chr3_5236966_+_ITPR1_ENST00000357086_chr3_4887823_+_2179nt GGCTAGTTCCTGGTGCGTCACGGGGGAGTTCCTTAAAGGGGAAGCGAGCCGGGCTACGGGGCGAGCGCGGGGTGCGGTGGTCGGCGGGGA GGCCCCCGCGCTTTAAAATAATGCCCGCGGCGCCCGCGCGACCATGCAATGGCGAGCGCTCGTCCTGGGGCTGGTGCTCCTCCGGCTTGG CCTCCATGGAGTATTGTGGCTCGTCTTCGGGCTGGGGCCCAGCATGGGCTTCTACCAGCGCTTTCCGCTCAGCTTCGGCTTCCAGCGTCT GAGGAGCCCCGACGGCCCCGCGTCGCCCACCTCGGGGCCCGTGGGCCGGCCTGGGGGGGTATCCGGGCCGTCGTGGCTGCAGCCGCCGGG GACCGGGGCAGCGCAGAGCCCGCGCAAGGCTCCGCGGCGTCCTGGGCCGGGGATGTGCGGCCCAGCCAACTGGGGCTACGTGCTGGGCGG CCGGGGCCGCGGCCCGGACGAGTACGAGAAGCGCTACAGCGGCGCCTTCCCTCCGCAGCTGCGTGCCCAGATGCGCGACCTGGCACGGGG CATGTTCGTCTTTGGCTACGACAACTACATGGCTCACGCCTTCCCCCAGGACGAGCTCAACCCCATCCACTGCCGCGGCCGTGGGCCCGA CCGCGGGGACCCTTCAAATCTGAACATCAATGATGTACTAGGGAACTACTCATTGACTCTTGTTGATGCATTGGATACACTTGCAATGAC AGAACAAAGGAAGCAGAAACAAAGAATTGGTCTTCTAGGACATCCTCCTCACATGAATGTCAACCCACAACAACCAGCATAAGCAAATGA AAGAAAGGAATTGTATTTACCTTTTATAATTATTATTAGTGTGGGTATGGCTAATGAGTTCTGATTCACCCACGAAGGTTACATTTATGC TGAATACATTTGTAAATACTCAGTTTTATACTGTATGTATATGATTGCTACTCTAAAGGTTTGGATATATGTATTGTAATTAGAATTGTT GGCATGATGACATTTCATTTGTGCCAAAAATATTAAAAATGCCTTTTTTGGAAGGACTAACAGAAAGCACCTGATTTGCACTTGAACCAG ATTATAGATTTAAAAGTATATGACATGTATTTTGTATTTAAAACTAGAATAGCCAGTATTTATGTTTTTTATAAAACTGTGCAATACGAA TTATGCAATCACAATACATTTGTAGCTCCCGAGTGTCCTAAAGGGAGTGCACTTCTTTGAAGCTGGTGTGTTAATACTATGTAATAAATG GTTAACTTTCAAATGATGCTGCTGCCAAAATTATATTAATAGTGAGTTTCAGGCCCCTGGGCATTTTGTACCATGTAATTATCCTCTGGT GATGCTGTTTCTCGTTAGTGGCAGTAGTGCCTCCGTCTCCTAGTGATAATGCTCCAAGTCTATGAACTGTTAAATCAGCATTCATTTTAA GAAAAGCAACTTTAGTTTCAAAGATACTTTTAAGCTTCTAAATTGATCATTTAAACTATTTCTTTAAATAAGAGAGCCAAATTAGAGGCT CATACTTTAGCTTGTGAAGAAGATAATGAATTTTTTAAAGGGAACTTTCTATGCAATGTTCAGGATAAATGCATACTGCTGGCCAATCAG TGTCATCTCCTGGGTAAATTTTGATGTCGCATTATAAAGACATGCATAATTGATGGTTTCTAGATTATCTAGTCCAAACAATAGAGTTTA TTTTTTCTTCATCTGAACCAACATGCTACAGTAGCTAAGAAGTATTAAAACTATATACATCCATATAAAGATGAAATATGAACTATCTCA TTAGAAGTCATAGTTGACCACAGACATGTTATTCTTCTGAAAGAGCCACATTTTGGTTTTATTTCTTGTCACATGATTTCTTTTCTTGAT GGATGAAAAATATGAAAGGAAACTTTTATATCTGTTGCCTAGTTTTGTACATGGATCTCATTTTACAAGAGAATCTCTCTGCAAAAAAAA AAAAAACAGTTTAAAAATGCATTGAAAGCAGAGTTCTGAAATGAGTAAAGTTTGTAAATGCATATATAAAAATATTTAATAAATGATGCA GAATATACAGTGACTGGTTGGTGGCTTTCATTTGGCATTTGTGACTTAACTGCTATTCCATTTATGTACTTTCTTTAGGATCAGTTTGAA >In-frame_EDEM1_ENST00000256497_chr3_5236966_+_ITPR1_ENST00000443694_chr3_4887823_+_1972nt GGCTAGTTCCTGGTGCGTCACGGGGGAGTTCCTTAAAGGGGAAGCGAGCCGGGCTACGGGGCGAGCGCGGGGTGCGGTGGTCGGCGGGGA GGCCCCCGCGCTTTAAAATAATGCCCGCGGCGCCCGCGCGACCATGCAATGGCGAGCGCTCGTCCTGGGGCTGGTGCTCCTCCGGCTTGG CCTCCATGGAGTATTGTGGCTCGTCTTCGGGCTGGGGCCCAGCATGGGCTTCTACCAGCGCTTTCCGCTCAGCTTCGGCTTCCAGCGTCT GAGGAGCCCCGACGGCCCCGCGTCGCCCACCTCGGGGCCCGTGGGCCGGCCTGGGGGGGTATCCGGGCCGTCGTGGCTGCAGCCGCCGGG GACCGGGGCAGCGCAGAGCCCGCGCAAGGCTCCGCGGCGTCCTGGGCCGGGGATGTGCGGCCCAGCCAACTGGGGCTACGTGCTGGGCGG CCGGGGCCGCGGCCCGGACGAGTACGAGAAGCGCTACAGCGGCGCCTTCCCTCCGCAGCTGCGTGCCCAGATGCGCGACCTGGCACGGGG CATGTTCGTCTTTGGCTACGACAACTACATGGCTCACGCCTTCCCCCAGGACGAGCTCAACCCCATCCACTGCCGCGGCCGTGGGCCCGA CCGCGGGGACCCTTCAAATCTGAACATCAATGATGTACTAGGGAACTACTCATTGACTCTTGTTGATGCATTGGATACACTTGCAATGAC AGAACAAAGGAAGCAGAAACAAAGAATTGGTCTTCTAGGACATCCTCCTCACATGAATGTCAACCCACAACAACCAGCATAAGCAAATGA AAGAAAGGAATTGTATTTACCTTTTATAATTATTATTAGTGTGGGTATGGCTAATGAGTTCTGATTCACCCACGAAGGTTACATTTATGC TGAATACATTTGTAAATACTCAGTTTTATACTGTATGTATATGATTGCTACTCTAAAGGTTTGGATATATGTATTGTAATTAGAATTGTT GGCATGATGACATTTCATTTGTGCCAAAAATATTAAAAATGCCTTTTTTGGAAGGACTAACAGAAAGCACCTGATTTGCACTTGAACCAG ATTATAGATTTAAAAGTATATGACATGTATTTTGTATTTAAAACTAGAATAGCCAGTATTTATGTTTTTTATAAAACTGTGCAATACGAA TTATGCAATCACAATACATTTGTAGCTCCCGAGTGTCCTAAAGGGAGTGCACTTCTTTGAAGCTGGTGTGTTAATACTATGTAATAAATG GTTAACTTTCAAATGATGCTGCTGCCAAAATTATATTAATAGTGAGTTTCAGGCCCCTGGGCATTTTGTACCATGTAATTATCCTCTGGT GATGCTGTTTCTCGTTAGTGGCAGTAGTGCCTCCGTCTCCTAGTGATAATGCTCCAAGTCTATGAACTGTTAAATCAGCATTCATTTTAA GAAAAGCAACTTTAGTTTCAAAGATACTTTTAAGCTTCTAAATTGATCATTTAAACTATTTCTTTAAATAAGAGAGCCAAATTAGAGGCT CATACTTTAGCTTGTGAAGAAGATAATGAATTTTTTAAAGGGAACTTTCTATGCAATGTTCAGGATAAATGCATACTGCTGGCCAATCAG TGTCATCTCCTGGGTAAATTTTGATGTCGCATTATAAAGACATGCATAATTGATGGTTTCTAGATTATCTAGTCCAAACAATAGAGTTTA TTTTTTCTTCATCTGAACCAACATGCTACAGTAGCTAAGAAGTATTAAAACTATATACATCCATATAAAGATGAAATATGAACTATCTCA TTAGAAGTCATAGTTGACCACAGACATGTTATTCTTCTGAAAGAGCCACATTTTGGTTTTATTTCTTGTCACATGATTTCTTTTCTTGAT |
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FusionGenePPI for EDEM1_ITPR1 |
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 |
EDEM1 | BZW1, CANX, SEL1L, ELAVL1, ASGR2, RHO, DNAJC10, SEC61B, DERL1, DERL2, ASGR1, SSR1, MMS19, SQSTM1, HLA-B, UBQLN2, ESYT1, MTCH1, ZACN, NAAA, P4HB, ACSL4, PSMD14, PNISR, SUFU, CHD9, PHF6, SHH, EGFR, MPPE1, LOXL3, LYZL2, LYZL1, GALNT6 | ITPR1 | CA8, BCL2, STARD13, CABP1, TRPC1, TRPC2, TRPC3, TRPC4, TRPC5, TRPC6, RHOA, EPB41L1, SDC2, PRKG1, MRVI1, AHCYL1, FKBP1A, BANK1, ITPR3, ERLIN1, ERLIN2, VCP, PSMD2, AMFR, UFD1L, CALM1, PRKCD, AKT1, TESPA1, BRCA1, CAPZA2, PLK2, SYNPO, GTF2H5, RNF170, CTDNEP1, RAB29, FBXL14, FAM19A4, 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 EDEM1_ITPR1 |
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 |
Tgene | ITPR1 | Q14643 | DB00201 | Caffeine | Inositol 1,4,5-trisphosphate receptor type 1 | small molecule | approved |
Tgene | ITPR1 | Q14643 | DB09462 | Glycerin | Inositol 1,4,5-trisphosphate receptor type 1 | small molecule | approved|investigational |
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RelatedDiseases for EDEM1_ITPR1 |
Diseases associated with fusion partners. (DisGeNet 4.0) |
Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
Hgene | EDEM1 | C0041696 | Unipolar Depression | 1 | PSYGENET |
Hgene | EDEM1 | C1269683 | Major Depressive Disorder | 1 | PSYGENET |
Hgene | EDEM1 | C4277682 | Chemical and Drug Induced Liver Injury | 1 | CTD_human |
Tgene | ITPR1 | C0005586 | Bipolar Disorder | 2 | PSYGENET |
Tgene | ITPR1 | C0431401 | Gillespie syndrome | 2 | ORPHANET;UNIPROT |
Tgene | ITPR1 | C1847725 | SPINOCEREBELLAR ATAXIA 15 | 2 | CTD_human;ORPHANET;UNIPROT |
Tgene | ITPR1 | C1861732 | SPINOCEREBELLAR ATAXIA 29 | 2 | CTD_human;ORPHANET;UNIPROT |
Tgene | ITPR1 | C0033578 | Prostatic Neoplasms | 1 | CTD_human |
Tgene | ITPR1 | C1527348 | Brain Hypoxia | 1 | CTD_human |
Tgene | ITPR1 | C4277682 | Chemical and Drug Induced Liver Injury | 1 | CTD_human |