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Fusion gene ID: 10926 |
FusionGeneSummary for EDEM1_GPD1L |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: EDEM1_GPD1L | Fusion gene ID: 10926 | Hgene | Tgene | Gene symbol | EDEM1 | GPD1L | Gene ID | 9695 | 23171 |
| Gene name | ER degradation enhancing alpha-mannosidase like protein 1 | glycerol-3-phosphate dehydrogenase 1 like | |
| Synonyms | EDEM | GPD1-L | |
| Cytomap | 3p26.1 | 3p22.3 | |
| 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 | glycerol-3-phosphate dehydrogenase 1-like protein | |
| Modification date | 20180522 | 20180519 | |
| UniProtAcc | Q92611 | Q8N335 | |
| Ensembl transtripts involved in fusion gene | ENST00000256497, ENST00000445686, | ENST00000282541, | |
| Fusion gene scores | * DoF score | 2 X 2 X 2=8 | 6 X 3 X 6=108 |
| # samples | 2 | 7 | |
| ** MAII score | log2(2/8*10)=1.32192809488736 | log2(7/108*10)=-0.625604485218502 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
| Context | PubMed: EDEM1 [Title/Abstract] AND GPD1L [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 |
| 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 | PRAD | TCGA-KK-A8I6-01A | EDEM1 | chr3 | 5229999 | + | GPD1L | chr3 | 32169568 | + |
| * 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 | ENST00000256497 | ENST00000282541 | EDEM1 | chr3 | 5229999 | + | GPD1L | chr3 | 32169568 | + |
| intron-3CDS | ENST00000445686 | ENST00000282541 | EDEM1 | chr3 | 5229999 | + | GPD1L | chr3 | 32169568 | + |
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FusionProtFeatures for EDEM1_GPD1L |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| EDEM1 | GPD1L |
| 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}. | Plays a role in regulating cardiac sodium current;decreased enzymatic activity with resulting increased levels ofglycerol 3-phosphate activating the DPD1L-dependent SCN5Aphosphorylation pathway, may ultimately lead to decreased sodiumcurrent; cardiac sodium current may also be reduced due toalterations of NAD(H) balance induced by DPD1L.{ECO:0000269|PubMed:19666841, ECO:0000269|PubMed:19745168}. |
| 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 |
| Hgene | EDEM1 | chr3:5229999 | chr3:32169568 | ENST00000256497 | + | 1 | 12 | 1_4 | 169 | 658 | Topological domain | Cytoplasmic |
| Hgene | EDEM1 | chr3:5229999 | chr3:32169568 | ENST00000256497 | + | 1 | 12 | 5_25 | 169 | 658 | Transmembrane | Helical%3B Signal-anchor for type II membrane protein |
| Tgene | >GPD1L | chr3:5229999 | chr3:32169568 | ENST00000282541 | + | 0 | 8 | 12_17 | 15 | 352 | Nucleotide binding | NAD |
| Tgene | >GPD1L | chr3:5229999 | chr3:32169568 | ENST00000282541 | + | 0 | 8 | 271_272 | 15 | 352 | Region | Note=Substrate binding |
| - 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 |
| Hgene | >EDEM1 | chr3:5229999 | chr3:32169568 | ENST00000256497 | + | 1 | 12 | 26_657 | 169 | 658 | Topological domain | Lumenal |
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FusionGeneSequence for EDEM1_GPD1L |
| 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_5229999_+_GPD1L_ENST00000282541_chr3_32169568_+_506aa MQWRALVLGLVLLRLGLHGVLWLVFGLGPSMGFYQRFPLSFGFQRLRSPDGPASPTSGPVGRPGGVSGPSWLQPPGTGAAQSPRKAPRRP GPGMCGPANWGYVLGGRGRGPDEYEKRYSGAFPPQLRAQMRDLARGMFVFGYDNYMAHAFPQDELNPIHCRGRGPDRGDPGSAVAKIIGN NVKKLQKFASTVKMWVFEETVNGRKLTDIINNDHENVKYLPGHKLPENVVAMSNLSEAVQDADLLVFVIPHQFIHRICDEITGRVPKKAL GITLIKGIDEGPEGLKLISDIIREKMGIDISVLMGANIANEVAAEKFCETTIGSKVMENGLLFKELLQTPNFRITVVDDADTVELCGALK NIVAVGAGFCDGLRCGDNTKAAVIRLGLMEMIAFARIFCKGQVSTATFLESCGVADLITTCYGGRNRRVAEAFARTGKTIEELEKEMLNG |
| * Fusion transcript sequences (only coding sequence (CDS) region). |
| >In-frame_EDEM1_ENST00000256497_chr3_5229999_+_GPD1L_ENST00000282541_chr3_32169568_+_1518nt ATGCAATGGCGAGCGCTCGTCCTGGGGCTGGTGCTCCTCCGGCTTGGCCTCCATGGAGTATTGTGGCTCGTCTTCGGGCTGGGGCCCAGC ATGGGCTTCTACCAGCGCTTTCCGCTCAGCTTCGGCTTCCAGCGTCTGAGGAGCCCCGACGGCCCCGCGTCGCCCACCTCGGGGCCCGTG GGCCGGCCTGGGGGGGTATCCGGGCCGTCGTGGCTGCAGCCGCCGGGGACCGGGGCAGCGCAGAGCCCGCGCAAGGCTCCGCGGCGTCCT GGGCCGGGGATGTGCGGCCCAGCCAACTGGGGCTACGTGCTGGGCGGCCGGGGCCGCGGCCCGGACGAGTACGAGAAGCGCTACAGCGGC GCCTTCCCTCCGCAGCTGCGTGCCCAGATGCGCGACCTGGCACGGGGCATGTTCGTCTTTGGCTACGACAACTACATGGCTCACGCCTTC CCCCAGGACGAGCTCAACCCCATCCACTGCCGCGGCCGTGGGCCCGACCGCGGGGACCCGGGTTCAGCTGTTGCAAAAATAATTGGTAAT AATGTCAAGAAACTTCAGAAATTTGCCTCCACAGTCAAGATGTGGGTCTTTGAAGAAACAGTGAATGGCAGAAAACTGACAGACATCATA AATAATGACCATGAAAATGTAAAATATCTTCCTGGACACAAGCTGCCAGAAAATGTGGTTGCCATGTCAAATCTTAGCGAGGCTGTGCAG GATGCAGACCTGCTGGTGTTTGTCATTCCCCACCAGTTCATTCACAGAATCTGTGATGAGATCACTGGGAGAGTGCCCAAGAAAGCGCTG GGAATCACCCTCATCAAGGGCATAGACGAGGGCCCCGAGGGGCTGAAGCTCATTTCTGACATCATCCGTGAGAAGATGGGTATTGACATC AGTGTGCTGATGGGAGCCAACATTGCCAATGAGGTGGCTGCAGAGAAGTTCTGTGAGACCACCATCGGCAGCAAAGTAATGGAGAACGGC CTTCTCTTCAAAGAACTTCTGCAGACTCCAAATTTTCGAATTACCGTGGTTGATGATGCAGACACTGTTGAACTCTGTGGTGCGCTTAAG AACATCGTAGCTGTGGGAGCTGGGTTCTGCGACGGCCTCCGCTGTGGAGACAACACCAAAGCGGCCGTCATCCGCCTGGGACTCATGGAA ATGATTGCTTTTGCCAGGATCTTCTGCAAAGGCCAAGTGTCTACAGCCACCTTCCTAGAGAGCTGCGGGGTGGCCGACCTGATCACCACC TGTTACGGAGGGCGGAACCGCAGGGTGGCCGAGGCCTTCGCCAGAACTGGGAAGACCATTGAAGAGTTGGAGAAGGAGATGCTGAATGGG CAAAAGCTCCAAGGACCGCAGACTTCTGCTGAAGTGTACCGCATCCTCAAACAGAAGGGACTACTGGACAAGTTTCCATTGTTTACTGCA |
| * Fusion transcript sequences (Full-length transcript). |
| >In-frame_EDEM1_ENST00000256497_chr3_5229999_+_GPD1L_ENST00000282541_chr3_32169568_+_4454nt GGCTAGTTCCTGGTGCGTCACGGGGGAGTTCCTTAAAGGGGAAGCGAGCCGGGCTACGGGGCGAGCGCGGGGTGCGGTGGTCGGCGGGGA GGCCCCCGCGCTTTAAAATAATGCCCGCGGCGCCCGCGCGACCATGCAATGGCGAGCGCTCGTCCTGGGGCTGGTGCTCCTCCGGCTTGG CCTCCATGGAGTATTGTGGCTCGTCTTCGGGCTGGGGCCCAGCATGGGCTTCTACCAGCGCTTTCCGCTCAGCTTCGGCTTCCAGCGTCT GAGGAGCCCCGACGGCCCCGCGTCGCCCACCTCGGGGCCCGTGGGCCGGCCTGGGGGGGTATCCGGGCCGTCGTGGCTGCAGCCGCCGGG GACCGGGGCAGCGCAGAGCCCGCGCAAGGCTCCGCGGCGTCCTGGGCCGGGGATGTGCGGCCCAGCCAACTGGGGCTACGTGCTGGGCGG CCGGGGCCGCGGCCCGGACGAGTACGAGAAGCGCTACAGCGGCGCCTTCCCTCCGCAGCTGCGTGCCCAGATGCGCGACCTGGCACGGGG CATGTTCGTCTTTGGCTACGACAACTACATGGCTCACGCCTTCCCCCAGGACGAGCTCAACCCCATCCACTGCCGCGGCCGTGGGCCCGA CCGCGGGGACCCGGGTTCAGCTGTTGCAAAAATAATTGGTAATAATGTCAAGAAACTTCAGAAATTTGCCTCCACAGTCAAGATGTGGGT CTTTGAAGAAACAGTGAATGGCAGAAAACTGACAGACATCATAAATAATGACCATGAAAATGTAAAATATCTTCCTGGACACAAGCTGCC AGAAAATGTGGTTGCCATGTCAAATCTTAGCGAGGCTGTGCAGGATGCAGACCTGCTGGTGTTTGTCATTCCCCACCAGTTCATTCACAG AATCTGTGATGAGATCACTGGGAGAGTGCCCAAGAAAGCGCTGGGAATCACCCTCATCAAGGGCATAGACGAGGGCCCCGAGGGGCTGAA GCTCATTTCTGACATCATCCGTGAGAAGATGGGTATTGACATCAGTGTGCTGATGGGAGCCAACATTGCCAATGAGGTGGCTGCAGAGAA GTTCTGTGAGACCACCATCGGCAGCAAAGTAATGGAGAACGGCCTTCTCTTCAAAGAACTTCTGCAGACTCCAAATTTTCGAATTACCGT GGTTGATGATGCAGACACTGTTGAACTCTGTGGTGCGCTTAAGAACATCGTAGCTGTGGGAGCTGGGTTCTGCGACGGCCTCCGCTGTGG AGACAACACCAAAGCGGCCGTCATCCGCCTGGGACTCATGGAAATGATTGCTTTTGCCAGGATCTTCTGCAAAGGCCAAGTGTCTACAGC CACCTTCCTAGAGAGCTGCGGGGTGGCCGACCTGATCACCACCTGTTACGGAGGGCGGAACCGCAGGGTGGCCGAGGCCTTCGCCAGAAC TGGGAAGACCATTGAAGAGTTGGAGAAGGAGATGCTGAATGGGCAAAAGCTCCAAGGACCGCAGACTTCTGCTGAAGTGTACCGCATCCT CAAACAGAAGGGACTACTGGACAAGTTTCCATTGTTTACTGCAGTGTATCAGATCTGCTACGAAAGCAGACCAGTTCAAGAGATGTTGTC TTGTCTTCAGAGCCATCCAGAGCATACATAAAGTGAATCATGCAACGTGTTGGGGGAAGTTCTGCCTTTCTGATCAATCTTTTGGGTTCA CGTGGAAACCAGGACTTGGCAACATGATGTTTGACTGTAATCTCATCACGGATATGTATGAATTTTTACAGGTTCGTTTTTGAATTGTGA GAGGCAGTTCATTAGCAAAGATGTACTGGGCAGTAACTAAACACACATGCAAACATGTGAATGGTGGTTTATTCCTCATTCTGTGGATGT TTCTATGAGCCAAAATTTGATGTCTTTTTTTCAAAATTGCTTATGAAATTTCCACACAATCGTAGCTTATAAGATTGGAACGATCTCAGC CAAATATTTTAGGTGTAATTCATATGTATTTGAGTGGAGGATTTTTTTTCTCATTTTTCTAGTGTTAAATTTTAACCAGCATTAACATGG TAGAGTGGAGGAGTGAGTGTGTTCAAAGATCAACATATTTAACTTTTAAACACTATCTCAAAGCCAGCATAATTAACTACTTTGATTGTG GGCTGACCTTTGTTTTTTTAACAATCAGGCATTTTTAATTAGATAATCCACTCATGTATTTCCCCCTCACTGCAGTTGTCTGCATTTTTA GCCTCTTTTCTCTTCGTTAGTTGTCAGAATATGCCTTCGTCAAGGCTCAGAGGTAACAAGACAGAAAATTCATCTGGGATTTTCCTGCTG TGGCTGGCACATTCTTCTGATTAACAGACACTTGTATGATGCTTTAGGCTAGTTAGTGCATTTTTTAGCAAACATTTATCTTAAACATCA CAGATCCACTGGGGGGTGCAAGGGGCTACTGTTAGTCCTCTTGTTAGATGCAGTCACTCCTCCTGGTCACCTAGTGAGCAGGGACAGAGC CAGGAGTCAAGTGCAGTGCCAAGGTGCATGACCCTCTGAGAAGTCACTGGGCTGATTTGACCTCCGACTCATTGGTTGTGCAAATGCCAT GTGCAGCCTTTCCTGAGGCCATAGGAGGGCTTCCTGCAGCTGAGATCTATGCAGGCCATCCTCTCAACAAGTGCCACTCCAAGGGCGGTC CTCGGTGCAGCAGCATCAGCTTCACTTGTGGGGGGGTGGGGGAAGGGGCGGTCTCAGAAATGCAGGTTCCCAGGTCCCACCCTGGACTTC TGAAGGGGTGTGGCATCTGTGTTTCTGATGCTTACTACAATATGTGAACCACTACTTTAGAAAATCTGCTTTAACTTGGTATTCCTCTAA TTGTGTTCCCTAGGAAATGACTGTCCCAAGAGCCAGTGATTATTCCAGGTGTTCCCTGGAAAGGTCAAGTGAGTCTGGGAAACACTATGT CTGTACACCTCTTGAAGGTGTCGAATGTATGTTTATACATCAGTGGAACCCATTTTTCTAGCCTAGCAAGTCCCAAACACATTACACTGA AGAGATTTTGGTGAGGAAACTTGCTGGAGTTTTCAGGGAACACTGTTCTAGGCTTAGGTGACCTTAGGATCACTCAAGTAGACCCTTCAC TCCCTGCGAGAAATTAGGATGAATAACTACCTGTGGCATTGTTGGTTCTGAACTTTTACAGTTCAGGCCTGCTGTGAATCTTTGATGAAG CTTTAAGGTGACACTGTTGTACAAGATGTCAGCTTTGCTGAAACGCACATTACCTGGAATAAGTGCTTTAATTGTAGAATTAGAATGGGA TTTACTGTACTGTTTTAAATGAGATTGGCTTCAGAATCCATTACAGTTACCTTACATAGCACTTGATACGTGTTAAATGAACATATGAAT GTAATTTATATATTCCTAGAATTTAAGTTACTTTGTGAGATTTGGGCCTGTCCCTCAATGCCAGTTTAGGATTTCTTTTTTTCTATACCT TGAAATGATTATAAAATAGATTTTCATGGGAATTTTAAAAACTCTATCCAAAACATTTTTGGAGCATTTTAAAGCCCCATACACAGAAGT ATACGAAAGCACACAAAACACTCCAAGTTTCAGCAGTTTTAGCGCCACCATTAACCCACTTTGCTTGTCTCATGAAAAATCTTTGTTAAA GTTTGTACACAGGTAACAAAAAGTTACTTTAAAAGATATATAAAGGGCTGTAAGCTAATTGTGGTGTCTAGTAAGTAGCATAATGAGATG TGAGGAGTTGGAACTTTGCGTGTTTTGCGTATTTTCATCTGCATTCAGCTTCTTACTCTGGGTTTGTACTCGAGTGTTATTTCTTTACAA ATGCCCTTGTAATTACCACTCTGAAGTCTGCTGACTGTGTCTCTTGAACATACTTAGGATATTCTGCACATTATGGAAAAAGGTAAATTT TAGAAGTTTCTGCTCTACTAACTGTAGATATTTATGACTCTGCGAGTTATCTATTTTTATAACCACCTGTGGTCCATTGTTCATTTTAAT TCACATTTCTTATGAAGTATGGTAACAGGGAGGGAGACACCTAGATTAGCAGCTCAATTTGTACTACTTCAGCCAATCTGTGAATGTAAA AACTACACTGTTGCCTTGCTAGGATCCACCCTCCTATAATATGGAACAAATATCTGAATGAAATCCACCCTAGGAGACGGAGTCAAACTA AACTTGTGGTTTTTCATTTAACTTTTGACTACAGCATGGCCCCATGGCATCCACACCAAGAGGGTGTTGTGATGAGGTGCCGGTGTGCAA AGGGAACTTTAGTTTTTCCACTGGTTCTTATCTGCTAGCCTTTTACATACATGTGTACTATATTTGTTTATAGACTGTAGGTGGATATAT |
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FusionGenePPI for EDEM1_GPD1L |
| 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 | GPD1L | ELAVL1, BSG, FAS, PALM2, ART3, ISLR, TGOLN2, ALDOA, ALDOC, CYCS, GNPNAT1, ACO2, CKMT1A, CKMT1B, FH, GAPDH, GPT2, MYH7B, PHGDH, PYCRL, PGM1, TPI1, UPP1, GPD1, LAMP2, FAM174A, C1orf85, CCL5, DKKL1 |
| - 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_GPD1L |
| 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 EDEM1_GPD1L |
| 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 | GPD1L | C2673193 | Brugada Syndrome 2 | 3 | CTD_human;UNIPROT |
| Tgene | GPD1L | C0038644 | Sudden infant death syndrome | 2 | UNIPROT |
| Tgene | GPD1L | C0015695 | Fatty Liver | 1 | CTD_human |
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