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Center for Computational Systems Medicine
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FusionGeneSummary

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FusionProtFeature

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FusionGeneSequence

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FusionGenePPI

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RelatedDrugs

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RelatedDiseases

Fusion gene ID: 10927

FusionGeneSummary for EDEM1_ITPR1

check button Fusion gene summary
Fusion gene informationFusion gene name: EDEM1_ITPR1
Fusion gene ID: 10927
HgeneTgene
Gene symbol

EDEM1

ITPR1

Gene ID

9695

3708

Gene nameER degradation enhancing alpha-mannosidase like protein 1inositol 1,4,5-trisphosphate receptor type 1
SynonymsEDEMACV|CLA4|INSP3R1|IP3R|IP3R1|PPP1R94|SCA15|SCA16|SCA29
Cytomap

3p26.1

3p26.1

Type of geneprotein-codingprotein-coding
DescriptionER degradation-enhancing alpha-mannosidase-like protein 1ER degradation enhancer, mannosidase alpha-like 1ER degradation-enhancing alpha-mannosidase-like 1inositol 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 date2018052220180523
UniProtAcc

Q92611

Q14643

Ensembl transtripts involved in fusion geneENST00000256497, ENST00000445686, 
ENST00000302640, ENST00000354582, 
ENST00000423119, ENST00000456211, 
ENST00000357086, ENST00000544951, 
ENST00000443694, ENST00000463980, 
Fusion gene scores* DoF score2 X 2 X 2=88 X 8 X 7=448
# samples 215
** MAII scorelog2(2/8*10)=1.32192809488736log2(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)

check button Gene ontology of each fusion partner gene with evidence of Inferred from Direct Assay (IDA) from Entrez
PartnerGeneGO IDGO termPubMed ID
TgeneITPR1

GO:0001666

response to hypoxia

19120137

TgeneITPR1

GO:0050849

negative regulation of calcium-mediated signaling

16793548


check button 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 typeSourceCancer typeSampleHgeneHchrHbpHstrandTgeneTchrTbpTstrand
TCGARVUCECTCGA-AP-A5FX-01AEDEM1chr3

5236966

+ITPR1chr3

4887823

+
* LD: Li Ding group's fusion gene list
  RV: Roel Verhaak group's fusion gene list
  ChiTaRs fusion database

check button 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.
ORFHenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrand
Frame-shiftENST00000256497ENST00000302640EDEM1chr3

5236966

+ITPR1chr3

4887823

+
Frame-shiftENST00000256497ENST00000354582EDEM1chr3

5236966

+ITPR1chr3

4887823

+
Frame-shiftENST00000256497ENST00000423119EDEM1chr3

5236966

+ITPR1chr3

4887823

+
In-frameENST00000256497ENST00000456211EDEM1chr3

5236966

+ITPR1chr3

4887823

+
In-frameENST00000256497ENST00000357086EDEM1chr3

5236966

+ITPR1chr3

4887823

+
Frame-shiftENST00000256497ENST00000544951EDEM1chr3

5236966

+ITPR1chr3

4887823

+
In-frameENST00000256497ENST00000443694EDEM1chr3

5236966

+ITPR1chr3

4887823

+
5CDS-3UTRENST00000256497ENST00000463980EDEM1chr3

5236966

+ITPR1chr3

4887823

+
5UTR-3CDSENST00000445686ENST00000302640EDEM1chr3

5236966

+ITPR1chr3

4887823

+
5UTR-3CDSENST00000445686ENST00000354582EDEM1chr3

5236966

+ITPR1chr3

4887823

+
5UTR-3CDSENST00000445686ENST00000423119EDEM1chr3

5236966

+ITPR1chr3

4887823

+
5UTR-3CDSENST00000445686ENST00000456211EDEM1chr3

5236966

+ITPR1chr3

4887823

+
5UTR-3CDSENST00000445686ENST00000357086EDEM1chr3

5236966

+ITPR1chr3

4887823

+
5UTR-3CDSENST00000445686ENST00000544951EDEM1chr3

5236966

+ITPR1chr3

4887823

+
5UTR-3CDSENST00000445686ENST00000443694EDEM1chr3

5236966

+ITPR1chr3

4887823

+
5UTR-3UTRENST00000445686ENST00000463980EDEM1chr3

5236966

+ITPR1chr3

4887823

+

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FusionProtFeatures for EDEM1_ITPR1


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
EDEM1

Q92611

ITPR1

Q14643

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}.

check buttonRetention 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

download page

.

* 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.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note

- In-frame and not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note


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FusionGeneSequence for EDEM1_ITPR1


check button 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


check button Go to ChiPPI (Chimeric Protein-Protein interactions) to see the chimeric PPI interaction in

ChiPPI page

.

check button Protein-protein interactors with each fusion partner protein in wild-type (BIOGRID-3.4.160)
HgeneHgene's interactorsTgeneTgene's interactors
EDEM1BZW1, 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, GALNT6ITPR1CA8, 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


check button - Retained PPIs in in-frame fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenStill interaction with


check button - Lost PPIs in in-frame fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenInteraction lost with


check button - Retained PPIs, but lost function due to frame-shift fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenInteraction lost with


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RelatedDrugs for EDEM1_ITPR1


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.0 2018-04-02)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status
TgeneITPR1Q14643DB00201CaffeineInositol 1,4,5-trisphosphate receptor type 1small moleculeapproved
TgeneITPR1Q14643DB09462GlycerinInositol 1,4,5-trisphosphate receptor type 1small moleculeapproved|investigational

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RelatedDiseases for EDEM1_ITPR1


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneEDEM1C0041696Unipolar Depression1PSYGENET
HgeneEDEM1C1269683Major Depressive Disorder1PSYGENET
HgeneEDEM1C4277682Chemical and Drug Induced Liver Injury1CTD_human
TgeneITPR1C0005586Bipolar Disorder2PSYGENET
TgeneITPR1C0431401Gillespie syndrome2ORPHANET;UNIPROT
TgeneITPR1C1847725SPINOCEREBELLAR ATAXIA 152CTD_human;ORPHANET;UNIPROT
TgeneITPR1C1861732SPINOCEREBELLAR ATAXIA 292CTD_human;ORPHANET;UNIPROT
TgeneITPR1C0033578Prostatic Neoplasms1CTD_human
TgeneITPR1C1527348Brain Hypoxia1CTD_human
TgeneITPR1C4277682Chemical and Drug Induced Liver Injury1CTD_human