|
Fusion gene ID: 10094 |
FusionGeneSummary for DLG2_XRCC6BP1 |
Fusion gene summary |
Fusion gene information | Fusion gene name: DLG2_XRCC6BP1 | Fusion gene ID: 10094 | Hgene | Tgene | Gene symbol | DLG2 | XRCC6BP1 | Gene ID | 4355 | 91419 |
Gene name | membrane palmitoylated protein 2 | ATP23 metallopeptidase and ATP synthase assembly factor homolog | |
Synonyms | DLG2 | KUB3|XRCC6BP1 | |
Cytomap | 17q21.31 | 12q14.1 | |
Type of gene | protein-coding | protein-coding | |
Description | MAGUK p55 subfamily member 2discs large, homolog 2membrane protein, palmitoylated 2 (MAGUK p55 subfamily member 2) | mitochondrial inner membrane protease ATP23 homologKu70-binding protein 3XRCC6-binding protein 1 | |
Modification date | 20180519 | 20180519 | |
UniProtAcc | Q15700 | ||
Ensembl transtripts involved in fusion gene | ENST00000398309, ENST00000376104, ENST00000418306, ENST00000280241, ENST00000543673, ENST00000376106, ENST00000330014, ENST00000537455, ENST00000524982, ENST00000532653, ENST00000531015, ENST00000398301, ENST00000426717, ENST00000404783, ENST00000398304, ENST00000530800, ENST00000472545, | ENST00000300145, ENST00000546709, | |
Fusion gene scores | * DoF score | 5 X 6 X 3=90 | 8 X 4 X 4=128 |
# samples | 6 | 8 | |
** MAII score | log2(6/90*10)=-0.584962500721156 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(8/128*10)=-0.678071905112638 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
Context | PubMed: DLG2 [Title/Abstract] AND XRCC6BP1 [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 | SARC | TCGA-DX-AB2H-01A | DLG2 | chr11 | 83874504 | - | XRCC6BP1 | chr12 | 58339411 | + |
* 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 | ENST00000398309 | ENST00000300145 | DLG2 | chr11 | 83874504 | - | XRCC6BP1 | chr12 | 58339411 | + |
5CDS-intron | ENST00000398309 | ENST00000546709 | DLG2 | chr11 | 83874504 | - | XRCC6BP1 | chr12 | 58339411 | + |
In-frame | ENST00000376104 | ENST00000300145 | DLG2 | chr11 | 83874504 | - | XRCC6BP1 | chr12 | 58339411 | + |
5CDS-intron | ENST00000376104 | ENST00000546709 | DLG2 | chr11 | 83874504 | - | XRCC6BP1 | chr12 | 58339411 | + |
Frame-shift | ENST00000418306 | ENST00000300145 | DLG2 | chr11 | 83874504 | - | XRCC6BP1 | chr12 | 58339411 | + |
5CDS-intron | ENST00000418306 | ENST00000546709 | DLG2 | chr11 | 83874504 | - | XRCC6BP1 | chr12 | 58339411 | + |
Frame-shift | ENST00000280241 | ENST00000300145 | DLG2 | chr11 | 83874504 | - | XRCC6BP1 | chr12 | 58339411 | + |
5CDS-intron | ENST00000280241 | ENST00000546709 | DLG2 | chr11 | 83874504 | - | XRCC6BP1 | chr12 | 58339411 | + |
Frame-shift | ENST00000543673 | ENST00000300145 | DLG2 | chr11 | 83874504 | - | XRCC6BP1 | chr12 | 58339411 | + |
5CDS-intron | ENST00000543673 | ENST00000546709 | DLG2 | chr11 | 83874504 | - | XRCC6BP1 | chr12 | 58339411 | + |
5UTR-3CDS | ENST00000376106 | ENST00000300145 | DLG2 | chr11 | 83874504 | - | XRCC6BP1 | chr12 | 58339411 | + |
5UTR-intron | ENST00000376106 | ENST00000546709 | DLG2 | chr11 | 83874504 | - | XRCC6BP1 | chr12 | 58339411 | + |
Frame-shift | ENST00000330014 | ENST00000300145 | DLG2 | chr11 | 83874504 | - | XRCC6BP1 | chr12 | 58339411 | + |
5CDS-intron | ENST00000330014 | ENST00000546709 | DLG2 | chr11 | 83874504 | - | XRCC6BP1 | chr12 | 58339411 | + |
5UTR-3CDS | ENST00000537455 | ENST00000300145 | DLG2 | chr11 | 83874504 | - | XRCC6BP1 | chr12 | 58339411 | + |
5UTR-intron | ENST00000537455 | ENST00000546709 | DLG2 | chr11 | 83874504 | - | XRCC6BP1 | chr12 | 58339411 | + |
Frame-shift | ENST00000524982 | ENST00000300145 | DLG2 | chr11 | 83874504 | - | XRCC6BP1 | chr12 | 58339411 | + |
5CDS-intron | ENST00000524982 | ENST00000546709 | DLG2 | chr11 | 83874504 | - | XRCC6BP1 | chr12 | 58339411 | + |
Frame-shift | ENST00000532653 | ENST00000300145 | DLG2 | chr11 | 83874504 | - | XRCC6BP1 | chr12 | 58339411 | + |
5CDS-intron | ENST00000532653 | ENST00000546709 | DLG2 | chr11 | 83874504 | - | XRCC6BP1 | chr12 | 58339411 | + |
Frame-shift | ENST00000531015 | ENST00000300145 | DLG2 | chr11 | 83874504 | - | XRCC6BP1 | chr12 | 58339411 | + |
5CDS-intron | ENST00000531015 | ENST00000546709 | DLG2 | chr11 | 83874504 | - | XRCC6BP1 | chr12 | 58339411 | + |
Frame-shift | ENST00000398301 | ENST00000300145 | DLG2 | chr11 | 83874504 | - | XRCC6BP1 | chr12 | 58339411 | + |
5CDS-intron | ENST00000398301 | ENST00000546709 | DLG2 | chr11 | 83874504 | - | XRCC6BP1 | chr12 | 58339411 | + |
intron-3CDS | ENST00000426717 | ENST00000300145 | DLG2 | chr11 | 83874504 | - | XRCC6BP1 | chr12 | 58339411 | + |
intron-intron | ENST00000426717 | ENST00000546709 | DLG2 | chr11 | 83874504 | - | XRCC6BP1 | chr12 | 58339411 | + |
intron-3CDS | ENST00000404783 | ENST00000300145 | DLG2 | chr11 | 83874504 | - | XRCC6BP1 | chr12 | 58339411 | + |
intron-intron | ENST00000404783 | ENST00000546709 | DLG2 | chr11 | 83874504 | - | XRCC6BP1 | chr12 | 58339411 | + |
intron-3CDS | ENST00000398304 | ENST00000300145 | DLG2 | chr11 | 83874504 | - | XRCC6BP1 | chr12 | 58339411 | + |
intron-intron | ENST00000398304 | ENST00000546709 | DLG2 | chr11 | 83874504 | - | XRCC6BP1 | chr12 | 58339411 | + |
intron-3CDS | ENST00000530800 | ENST00000300145 | DLG2 | chr11 | 83874504 | - | XRCC6BP1 | chr12 | 58339411 | + |
intron-intron | ENST00000530800 | ENST00000546709 | DLG2 | chr11 | 83874504 | - | XRCC6BP1 | chr12 | 58339411 | + |
intron-3CDS | ENST00000472545 | ENST00000300145 | DLG2 | chr11 | 83874504 | - | XRCC6BP1 | chr12 | 58339411 | + |
intron-intron | ENST00000472545 | ENST00000546709 | DLG2 | chr11 | 83874504 | - | XRCC6BP1 | chr12 | 58339411 | + |
Top |
FusionProtFeatures for DLG2_XRCC6BP1 |
Main function of each fusion partner protein. (from UniProt) |
Hgene | Tgene |
DLG2 | XRCC6BP1 |
Required for perception of chronic pain through NMDAreceptor signaling. Regulates surface expression of NMDA receptorsin dorsal horn neurons of the spinal cord. Interacts with thecytoplasmic tail of NMDA receptor subunits as well as inwardrectifying potassium channels. Involved in regulation of synapticstability at cholinergic synapses. Part of the postsynapticprotein scaffold of excitatory synapses (By similarity).{ECO:0000250}. | Lectin that binds to various sugars: galactose > mannose= fucose > N-acetylglucosamine > N-acetylgalactosamine(PubMed:10224141). Acts as a chemoattractant, probably involved inthe regulation of cell migration (PubMed:28301481).{ECO:0000269|PubMed:10224141, ECO:0000269|PubMed:28301481}. |
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 |
Top |
FusionGeneSequence for DLG2_XRCC6BP1 |
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_DLG2_ENST00000376104_chr11_83874504_-_XRCC6BP1_ENST00000300145_chr12_58339411_+_392aa MGIFKSSLFQALLDIQEFYEVTLLNSQKSCEQKIEEANQVLQKWEKTSLLAPCHDRLQKSSELTDCSGSKENASCIEQNKENQSFENETD ETTTQNQGRCPAQNCSVEAPAWMPVHHCTKYRYQDEDAPHDHSLPRLTHEVRGPELVHVSEKNLSQIENVHGYVLQSHISPLKASPAPII VNTDTLDTIPYVNGTEIEYEFEEITLERIHMSNFCLMLXNTQVVLLTKIDTFLAKTVMEMSVEVLMLQHLRXFCARIISIIRPIXTEWSH TSLFMHLIIVVPMSTGSPTSDIWRAQRFELLTLVETAHLSMKYSGYILDXNNTTRLVCETEPLFLSWLLGISAKKXLKRLLMKFLNLVSM |
* Fusion transcript sequences (only coding sequence (CDS) region). |
>In-frame_DLG2_ENST00000376104_chr11_83874504_-_XRCC6BP1_ENST00000300145_chr12_58339411_+_1178nt ATGGGTATCTTTAAGAGCAGCTTATTCCAAGCTTTGCTAGATATCCAAGAATTTTATGAGGTGACATTGCTAAATTCTCAAAAAAGTTGT GAGCAGAAGATAGAAGAAGCCAATCAAGTTTTACAGAAATGGGAGAAGACATCCCTTCTTGCTCCGTGCCATGACAGACTTCAAAAATCT TCAGAGCTTACAGATTGCAGTGGATCAAAGGAAAATGCTTCATGTATTGAGCAAAATAAAGAAAATCAGAGTTTTGAAAATGAAACTGAT GAGACGACAACTCAAAACCAAGGCAGATGCCCAGCCCAGAATTGTTCAGTGGAAGCCCCTGCTTGGATGCCTGTCCACCACTGTACTAAG TATCGATATCAAGATGAGGACGCTCCACATGATCATTCCTTACCTCGACTAACCCACGAAGTAAGAGGCCCAGAACTCGTGCATGTATCA GAAAAGAACCTCTCTCAAATAGAAAATGTCCATGGATATGTCTTGCAGTCTCATATTTCTCCTCTGAAGGCCAGTCCTGCTCCTATAATT GTCAACACAGATACTTTGGACACAATTCCTTATGTCAATGGGACAGAAATTGAATATGAATTTGAAGAAATTACACTGGAGAGGATCCAT ATGTCAAACTTCTGCTTGATGCTATGAAACACTCAGGTTGTGCTGTTAACAAAGATAGACACTTTTCTTGCGAAGACTGTAATGGAAATG TCAGTGGAGGTTTTGATGCTTCAACATCTCAGATAGTTTTGTGCCAGAATAATATCCATAATCAGGCCCATATGAACAGAGTGGTCACAC ACGAGCTTATTCATGCATTTGATCATTGTCGTGCCCATGTCGACTGGTTCACCAACATCAGACATTTGGCGTGCTCAGAGGTTCGAGCTG CTAACCTTAGTGGAGACTGCTCACTTGTCAATGAAATATTCAGGTTACATTTTGGATTAAAACAACACCACCAGACTTGTGTGCGAGACA GAGCCACTCTTTCTATCCTGGCTGTTAGGAATATCAGCAAAGAAGTAGCTAAAAAGGCTGTTGATGAAGTTTTTGAATCTTGTTTCAATG ACCATGAACCTTTTGGAAGGATCCCACATAACAAGACTTATGCAAGATATGCTCACAGAGACTTTGAAAACCGTGATCGGTATTATTCAA |
* Fusion transcript sequences (Full-length transcript). |
>In-frame_DLG2_ENST00000376104_chr11_83874504_-_XRCC6BP1_ENST00000300145_chr12_58339411_+_1869nt ACAGAAGAAAAAAATGAAAGGGACAGCAAGCTGGATTCTGAGTTACTGAGGGGAAGACTCAGCCTGGATTTCAAAACTGAACACTGAAGT GGTTTGCAACAGTTACCTGGCTCTTGGCCTCAATCCAGCTGGATCAAACTGAGACCTGAAAAGAGATATTGACTCCTGTGGCAGTGGAAA GACCCAAGAATGCCAGTCAAGAAGACAGGTGGGCCATAAGATACTGACCGAGCTTTATCATTACTGGAAGAATACTGCAAAAAATTAAGG AAACCAGAGGAGCAGCTGTTGAAAAATGCGGTTAAAAAGGTGATGGGTATCTTTAAGAGCAGCTTATTCCAAGCTTTGCTAGATATCCAA GAATTTTATGAGGTGACATTGCTAAATTCTCAAAAAAGTTGTGAGCAGAAGATAGAAGAAGCCAATCAAGTTTTACAGAAATGGGAGAAG ACATCCCTTCTTGCTCCGTGCCATGACAGACTTCAAAAATCTTCAGAGCTTACAGATTGCAGTGGATCAAAGGAAAATGCTTCATGTATT GAGCAAAATAAAGAAAATCAGAGTTTTGAAAATGAAACTGATGAGACGACAACTCAAAACCAAGGCAGATGCCCAGCCCAGAATTGTTCA GTGGAAGCCCCTGCTTGGATGCCTGTCCACCACTGTACTAAGTATCGATATCAAGATGAGGACGCTCCACATGATCATTCCTTACCTCGA CTAACCCACGAAGTAAGAGGCCCAGAACTCGTGCATGTATCAGAAAAGAACCTCTCTCAAATAGAAAATGTCCATGGATATGTCTTGCAG TCTCATATTTCTCCTCTGAAGGCCAGTCCTGCTCCTATAATTGTCAACACAGATACTTTGGACACAATTCCTTATGTCAATGGGACAGAA ATTGAATATGAATTTGAAGAAATTACACTGGAGAGGATCCATATGTCAAACTTCTGCTTGATGCTATGAAACACTCAGGTTGTGCTGTTA ACAAAGATAGACACTTTTCTTGCGAAGACTGTAATGGAAATGTCAGTGGAGGTTTTGATGCTTCAACATCTCAGATAGTTTTGTGCCAGA ATAATATCCATAATCAGGCCCATATGAACAGAGTGGTCACACACGAGCTTATTCATGCATTTGATCATTGTCGTGCCCATGTCGACTGGT TCACCAACATCAGACATTTGGCGTGCTCAGAGGTTCGAGCTGCTAACCTTAGTGGAGACTGCTCACTTGTCAATGAAATATTCAGGTTAC ATTTTGGATTAAAACAACACCACCAGACTTGTGTGCGAGACAGAGCCACTCTTTCTATCCTGGCTGTTAGGAATATCAGCAAAGAAGTAG CTAAAAAGGCTGTTGATGAAGTTTTTGAATCTTGTTTCAATGACCATGAACCTTTTGGAAGGATCCCACATAACAAGACTTATGCAAGAT ATGCTCACAGAGACTTTGAAAACCGTGATCGGTATTATTCAAATATATGAGCACAATGACATTTTTATATTACAGAGCTTCCATCATCAT GAAGAAAAAAAAATTTGGTTCTCAAGTGAACAAACATATAAAATGTAAACAATCCCTACAATCCAGATAAAACAGAGAAGACTGTGATTC TAGCATATTATCAGAAAAAGTAACTATGGCAAAAAATGAAACTGCTTTAAACTCCAAGGCAGAAATTGTATCTTTATAGCTAACCATTTA GTAAATAAATACATTACATTTTTGTATTTTAGTCATTTGTTTTTATTACATGTGATTATTTTAAAATTTGATTATGAAACCTGTGAAGTG |
Top |
FusionGenePPI for DLG2_XRCC6BP1 |
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 |
DLG2 | LRP2, ERBB4, KCNJ12, KCNJ4, GRIN2B, KCNA4, DLGAP1, DYNLL1, DYNLL2, DLG4, NLGN2, NLGN1, NLGN3, GRIN2A, SEMA4C, NOS1, ATP2B2, ATP2B4, GUCY1A2, KHDRBS1, FASLG, MAP1A | XRCC6BP1 | XRCC6, AP2B1, TRIP6, CSPP1, NUP35, HLA-E, ATG7, BACH1, EEF1D, PROZ, CHST12, CD79A, FAM136A |
- 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 |
Top |
RelatedDrugs for DLG2_XRCC6BP1 |
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 |
Top |
RelatedDiseases for DLG2_XRCC6BP1 |
Diseases associated with fusion partners. (DisGeNet 4.0) |
Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
Hgene | DLG2 | C0036341 | Schizophrenia | 4 | PSYGENET |
Hgene | DLG2 | C0005586 | Bipolar Disorder | 2 | PSYGENET |
Hgene | DLG2 | C0025202 | melanoma | 1 | CTD_human |
Hgene | DLG2 | C0041696 | Unipolar Depression | 1 | PSYGENET |
Hgene | DLG2 | C0809983 | Schizophrenia and related disorders | 1 | PSYGENET |
Hgene | DLG2 | C1269683 | Major Depressive Disorder | 1 | PSYGENET |