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Fusion gene ID: 35647 |
FusionGeneSummary for SPEN_EFHD2 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: SPEN_EFHD2 | Fusion gene ID: 35647 | Hgene | Tgene | Gene symbol | SPEN | EFHD2 | Gene ID | 64783 | 79180 |
| Gene name | RNA binding motif protein 15 | EF-hand domain family member D2 | |
| Synonyms | OTT|OTT1|SPEN | SWS1 | |
| Cytomap | 1p13.3 | 1p36.21 | |
| Type of gene | protein-coding | protein-coding | |
| Description | putative RNA-binding protein 15one twenty two proteinone twenty-twoone-twenty two protein 1 | EF-hand domain-containing protein D2EF hand domain containing 2swiprosin 1testicular tissue protein Li 62 | |
| Modification date | 20180523 | 20180522 | |
| UniProtAcc | Q96T58 | Q96C19 | |
| Ensembl transtripts involved in fusion gene | ENST00000375759, ENST00000471538, | ENST00000375980, | |
| Fusion gene scores | * DoF score | 15 X 10 X 12=1800 | 4 X 3 X 4=48 |
| # samples | 22 | 4 | |
| ** MAII score | log2(22/1800*10)=-3.03242147769238 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(4/48*10)=-0.263034405833794 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
| Context | PubMed: SPEN [Title/Abstract] AND EFHD2 [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 | SPEN | GO:0045892 | negative regulation of transcription, DNA-templated | 16129689 |
| 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 | BLCA | TCGA-DK-A3X2-01A | SPEN | chr1 | 16174645 | + | EFHD2 | chr1 | 15752367 | + |
| * 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 | ENST00000375759 | ENST00000375980 | SPEN | chr1 | 16174645 | + | EFHD2 | chr1 | 15752367 | + |
| intron-3CDS | ENST00000471538 | ENST00000375980 | SPEN | chr1 | 16174645 | + | EFHD2 | chr1 | 15752367 | + |
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FusionProtFeatures for SPEN_EFHD2 |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| SPEN | EFHD2 |
| May serve as a nuclear matrix platform that organizesand integrates transcriptional responses. In osteoblasts, supportstranscription activation: synergizes with RUNX2 to enhance FGFR2-mediated activation of the osteocalcin FGF-responsive element(OCFRE) (By similarity). Has also been shown to be an essentialcorepressor protein, which probably regulates different keypathways such as the Notch pathway. Negative regulator of theNotch pathway via its interaction with RBPSUH, which prevents theassociation between NOTCH1 and RBPSUH, and therefore suppressesthe transactivation activity of Notch signaling. Blocks thedifferentiation of precursor B-cells into marginal zone B-cells.Probably represses transcription via the recruitment of largecomplexes containing histone deacetylase proteins. May bind bothto DNA and RNA. {ECO:0000250, ECO:0000269|PubMed:11331609,ECO:0000269|PubMed:12374742}. | May regulate B-cell receptor (BCR)-induced immature andprimary B-cell apoptosis. Plays a role as negative regulator ofthe canonical NF-kappa-B-activating branch. Controls spontaneousapoptosis through the regulation of BCL2L1 abundance.{ECO:0000250}. |
| 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 |
| Tgene | >EFHD2 | chr1:16174645 | chr1:15752367 | ENST00000375980 | + | 0 | 4 | 105_116 | 102 | 241 | Calcium binding | 1 |
| Tgene | >EFHD2 | chr1:16174645 | chr1:15752367 | ENST00000375980 | + | 0 | 4 | 141_152 | 102 | 241 | Calcium binding | 2 |
| Tgene | >EFHD2 | chr1:16174645 | chr1:15752367 | ENST00000375980 | + | 0 | 4 | 128_163 | 102 | 241 | Domain | EF-hand 2 |
| - 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 | >SPEN | chr1:16174645 | chr1:15752367 | ENST00000375759 | + | 1 | 15 | 1170_1191 | 27 | 3665 | Coiled coil | Ontology_term=ECO:0000255 |
| Hgene | >SPEN | chr1:16174645 | chr1:15752367 | ENST00000375759 | + | 1 | 15 | 1408_1428 | 27 | 3665 | Coiled coil | Ontology_term=ECO:0000255 |
| Hgene | >SPEN | chr1:16174645 | chr1:15752367 | ENST00000375759 | + | 1 | 15 | 1496_1529 | 27 | 3665 | Coiled coil | Ontology_term=ECO:0000255 |
| Hgene | >SPEN | chr1:16174645 | chr1:15752367 | ENST00000375759 | + | 1 | 15 | 1592_1612 | 27 | 3665 | Coiled coil | Ontology_term=ECO:0000255 |
| Hgene | >SPEN | chr1:16174645 | chr1:15752367 | ENST00000375759 | + | 1 | 15 | 1928_1944 | 27 | 3665 | Coiled coil | Ontology_term=ECO:0000255 |
| Hgene | >SPEN | chr1:16174645 | chr1:15752367 | ENST00000375759 | + | 1 | 15 | 688_715 | 27 | 3665 | Coiled coil | Ontology_term=ECO:0000255 |
| Hgene | >SPEN | chr1:16174645 | chr1:15752367 | ENST00000375759 | + | 1 | 15 | 977_1004 | 27 | 3665 | Coiled coil | Ontology_term=ECO:0000255 |
| Hgene | >SPEN | chr1:16174645 | chr1:15752367 | ENST00000375759 | + | 1 | 15 | 125_277 | 27 | 3665 | Compositional bias | Note=Arg-rich |
| Hgene | >SPEN | chr1:16174645 | chr1:15752367 | ENST00000375759 | + | 1 | 15 | 240_325 | 27 | 3665 | Compositional bias | Note=Ser-rich |
| Hgene | >SPEN | chr1:16174645 | chr1:15752367 | ENST00000375759 | + | 1 | 15 | 2428_2520 | 27 | 3665 | Compositional bias | Note=Pro-rich |
| Hgene | >SPEN | chr1:16174645 | chr1:15752367 | ENST00000375759 | + | 1 | 15 | 3220_3482 | 27 | 3665 | Compositional bias | Note=Pro-rich |
| Hgene | >SPEN | chr1:16174645 | chr1:15752367 | ENST00000375759 | + | 1 | 15 | 616_810 | 27 | 3665 | Compositional bias | Note=Arg-rich |
| Hgene | >SPEN | chr1:16174645 | chr1:15752367 | ENST00000375759 | + | 1 | 15 | 624_697 | 27 | 3665 | Compositional bias | Note=Tyr-rich |
| Hgene | >SPEN | chr1:16174645 | chr1:15752367 | ENST00000375759 | + | 1 | 15 | 1_573 | 27 | 3665 | DNA binding | Ontology_term=ECO:0000250 |
| Hgene | >SPEN | chr1:16174645 | chr1:15752367 | ENST00000375759 | + | 1 | 15 | 2201_2707 | 27 | 3665 | Domain | Note=RID |
| Hgene | >SPEN | chr1:16174645 | chr1:15752367 | ENST00000375759 | + | 1 | 15 | 335_415 | 27 | 3665 | Domain | RRM 2 |
| Hgene | >SPEN | chr1:16174645 | chr1:15752367 | ENST00000375759 | + | 1 | 15 | 3498_3664 | 27 | 3665 | Domain | SPOC |
| Hgene | >SPEN | chr1:16174645 | chr1:15752367 | ENST00000375759 | + | 1 | 15 | 438_513 | 27 | 3665 | Domain | RRM 3 |
| Hgene | >SPEN | chr1:16174645 | chr1:15752367 | ENST00000375759 | + | 1 | 15 | 517_589 | 27 | 3665 | Domain | RRM 4 |
| Hgene | >SPEN | chr1:16174645 | chr1:15752367 | ENST00000375759 | + | 1 | 15 | 6_81 | 27 | 3665 | Domain | RRM 1 |
| Tgene | EFHD2 | chr1:16174645 | chr1:15752367 | ENST00000375980 | + | 0 | 4 | 92_127 | 102 | 241 | Domain | EF-hand 1 |
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FusionGeneSequence for SPEN_EFHD2 |
| 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_SPEN_ENST00000375759_chr1_16174645_+_EFHD2_ENST00000375980_chr1_15752367_+_166aa MVRETRHLWVGNLPENVREEKIIEHFKRYDAGRDGFIDLMELKLMMEKLGAPQTHLGLKNMIKEVDEDFDSKLSFREFLLIFRKAAAGEL |
| * Fusion transcript sequences (only coding sequence (CDS) region). |
| >In-frame_SPEN_ENST00000375759_chr1_16174645_+_EFHD2_ENST00000375980_chr1_15752367_+_498nt ATGGTCCGGGAAACCAGGCATCTCTGGGTGGGCAACTTACCCGAGAACGTGCGGGAAGAGAAGATCATCGAGCATTTCAAACGGTATGAT GCCGGGCGGGACGGCTTCATCGACCTGATGGAGCTAAAACTCATGATGGAGAAACTTGGGGCCCCTCAGACCCACCTGGGCCTGAAAAAC ATGATCAAGGAGGTGGATGAGGACTTTGACAGCAAGCTGAGCTTCCGGGAGTTCCTCCTGATCTTCCGCAAGGCGGCGGCCGGGGAGCTT CAGGAGGACAGCGGGCTGTGCGTGCTGGCCCGCCTCTCTGAGATCGACGTCTCCAGTGAGGGTGTCAAGGGGGCCAAGAGCTTCTTTGAG GCCAAGGTCCAGGCCATCAACGTGTCCAGCCGCTTCGAGGAGGAGATCAAGGCAGAGCAGGAGGAAAGGAAGAAGCAGGCGGAGGAGATG |
| * Fusion transcript sequences (Full-length transcript). |
| >In-frame_SPEN_ENST00000375759_chr1_16174645_+_EFHD2_ENST00000375980_chr1_15752367_+_2321nt TGAGCTGCGAGGCCCGAGAGTCAGAACCTGGGGGAGAGGGATGGTCTCTGCACGGGGGGGAGCCGGAGGAGCCGCCGCCGCTGCCGACGC CACCGCCGCAGCCGCCGCCGCCGCCGCCCCGGCACCCGCCTCCCGGCGCTGACGGTCTCGTACGAAGCCGGCGAGGGGGAGCCAGCAGCG GCGGTCGCCGGCACGCCGCCCAGCATGGTCCGGGAAACCAGGCATCTCTGGGTGGGCAACTTACCCGAGAACGTGCGGGAAGAGAAGATC ATCGAGCATTTCAAACGGTATGATGCCGGGCGGGACGGCTTCATCGACCTGATGGAGCTAAAACTCATGATGGAGAAACTTGGGGCCCCT CAGACCCACCTGGGCCTGAAAAACATGATCAAGGAGGTGGATGAGGACTTTGACAGCAAGCTGAGCTTCCGGGAGTTCCTCCTGATCTTC CGCAAGGCGGCGGCCGGGGAGCTTCAGGAGGACAGCGGGCTGTGCGTGCTGGCCCGCCTCTCTGAGATCGACGTCTCCAGTGAGGGTGTC AAGGGGGCCAAGAGCTTCTTTGAGGCCAAGGTCCAGGCCATCAACGTGTCCAGCCGCTTCGAGGAGGAGATCAAGGCAGAGCAGGAGGAA AGGAAGAAGCAGGCGGAGGAGATGAAGCAGCGGAAAGCGGCCTTCAAGGAGCTGCAGTCCACCTTTAAGTAGCGGGGGCTGCAGCCGACC GCCCTGCTCCGGCCCCAGTGTGGTGGGCGAGGGTGGCGCATGGGAGGCCGAGCCTGAATCCTTGCCTGTGTCTGACGGGACCACTACTAA AAACCTAAAAATATCTGTGAATGGAGCAAGTTCAGGGGTCTTATGGAGGTGGCCCGGCCCCTCCCCGCTCCCTTCCACTCTGCACGAGGC CGCCACACCGGCGCTGGCTCCCTGCCCGGCCCGGCCCTCCCTGGCAATCCCTGGGCTCTCTTGCACCCCTAACTGCCCCCTGCCTGCTCC GGCACTGCCCCAGGCCCAGCTCCTGGCCCTAGGTCCCTCCCAGCCCCATGTGCCTGCCGCCTGCCCTCCACACATCCCTGTCCCCCCAAC CCGGGAACCCCTGCCCTCCTCCAGCAGGCCGCACCGCCCCTGGGGCCCCCTGCCAGCCCCTTCCCAGGCTGGGAGACGGCAGAAGAGATA GAATCAGGGCTGCCCCCACAGAGTGGGACCCAAGGGGCTAATTGGAGGCACGAGGGGACCCCTCCCCAGGGCCTTTTCCTCCTCTGCGTC TTCCATCTACTGAAATGGGAGAGGGGGTGGGGAGCTTCTGTTCTGGTGAAGGGACCCGGGCAGGCCCCCAGCACCCCATGCTGACTTGGA GAACCCCAGATCTCTGGGGCCCAGCCAGGCAGGGTGTGGGGGCAGCTGTGCCAATCTACCTCACAGGCCCACCCCCTGCCGGGCATGCCG TGGGATCATGGGCAGGGAAGGCTCTGGGGGTCGGAGACACCGCTGCTTAGCACCCCCAGCCAGAACACCCTGAGGGTCTCGGGGCTCTGG AGAGAGTGGGGCGGGAGGAAGAATTGGCACCTTCCTAGGGAAGGAGACGAGCGCTTCGCCTTGATTCTCCGAGAAGCCTCCGAGAAGTGC TTTAAGTGTGTTTGCATGCGCCAGGCGGTGGGCAGCGGGGGCCTGTCCAGCCCTCTCCCGCCATCCTTCCCCAAGTGACGTCCACTGCCT TGTCACCAGCGACCTGCCTGTCATGCCCACCCCCTGAGGAAGCATGGGGACCCTAACACCCTGGTGCCCTGCACCAGACAGGCCGTGGTC AGGCCCAGGCCACCGGCCGGGTTCTGCCACAGCTTCCCACGTGCTTGCTGACATGCGTGTGCCTGTGTGTGGTGTCTGTTGCTGTGTCGT GAAACTGTGACCATCACTCAGTCCAAACAAGTGAGTGGCCCTCGAGGCCACAGTTATGCAACTTTCAGTGTGTGTCATAACGACGTCACT GCTTTTTAAACTCGATAACTCTTTATTTTAGTAAAATGCCCAGGAGTCCTGGAAGCTACGCGGACTTGCAGAGGTTTTATTTTTTGGCCT TAGAATCTGCAGAAATTAGGAGGCACCGAGCCCAGCGCAGCAGCCTCGGACCCGGATTGCGTTTGCCTTAGCGGATATGTTTATACAGAT GAATATAAAATGTTTTTTTCTTTGGGCTTTTTGCTTCTTTTTTCCCCCCCTTCTCACCTTCCCTTCTCCCCGACCCCACCCCCCAAAAAA |
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FusionGenePPI for SPEN_EFHD2 |
| 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 |
| SPEN | NCOR2, PPARD, HDAC1, SRA1, RBPJ, NCOR1, CTBP1, RBBP8, RUNX1T1, RUNX1, SIRT7, UBE2E2, UBE2L6, ATXN1, NOTCH2, BPGM, TTN, PRDX3, PCBP3, NUP54, PIR, SCYL2, SOX2, HRSP12, SERTAD1, CUL7, OBSL1, EED, BMI1, CCNC, WRAP73, MED23, SRPK2, CLK1, DYNLT1, BCLAF1, FERMT3, USP37, DPPA4, EGFR, TRIML2, CAMKV, PIP4K2A, NR3C1 | EFHD2 | ELAVL1, LRRK2, APP, PAN2, FBXO6, CHMP4A, COASY, DCK, ENO2, GLRX3, GMPS, IDH1, PTPN11, RCN1, TSTA3, ACTR2, ARPC2, ARPC3, ARPC4-TTLL3, ARPC4, RAE1, TMOD1, VARS, MYH9, LIMA1, MYO18A, USP11, CDH1, GTF2E2, FSD1 |
| - 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 |
| Hgene | SPEN | chr1:16174645 | chr1:15752367 | ENST00000375759 | + | 1 | 15 | 2130_2464 | 27 | 3665 | MSX2 |
| Hgene | SPEN | chr1:16174645 | chr1:15752367 | ENST00000375759 | + | 1 | 15 | 2709_2870 | 27 | 3665 | RBPSUH |
| - 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 SPEN_EFHD2 |
| 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 SPEN_EFHD2 |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
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