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Fusion gene ID: 35489 |
FusionGeneSummary for SP1_SP1 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: SP1_SP1 | Fusion gene ID: 35489 | Hgene | Tgene | Gene symbol | SP1 | SP1 | Gene ID | 199699 | 199699 |
| Gene name | DAN domain BMP antagonist family member 5 | DAN domain BMP antagonist family member 5 | |
| Synonyms | CER2|CERL2|CKTSF1B3|COCO|CRL2|DANTE|GREM3|SP1 | CER2|CERL2|CKTSF1B3|COCO|CRL2|DANTE|GREM3|SP1 | |
| Cytomap | 19p13.13 | 19p13.13 | |
| Type of gene | protein-coding | protein-coding | |
| Description | DAN domain family member 5DAN domain family member 5, BMP antagonistDAN domain family, member 5cerberus 2cerberus-like 2cerberus-like protein 2cerl-2cysteine knot superfamily 1, BMP antagonist 3gremlin-3 | DAN domain family member 5DAN domain family member 5, BMP antagonistDAN domain family, member 5cerberus 2cerberus-like 2cerberus-like protein 2cerl-2cysteine knot superfamily 1, BMP antagonist 3gremlin-3 | |
| Modification date | 20180523 | 20180523 | |
| UniProtAcc | P08047 | P08047 | |
| Ensembl transtripts involved in fusion gene | ENST00000327443, ENST00000426431, | ENST00000327443, ENST00000426431, | |
| Fusion gene scores | * DoF score | 9 X 7 X 4=252 | 1 X 1 X 1=1 |
| # samples | 9 | 1 | |
| ** MAII score | log2(9/252*10)=-1.48542682717024 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(1/1*10)=3.32192809488736 | |
| Context | PubMed: SP1 [Title/Abstract] AND SP1 [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 |
| ChiTaRS3.1 | CN359274 | SP1 | chr12 | 53810082 | + | SP1 | chr12 | 53775446 | + |
| * 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 |
| intron-3CDS | ENST00000327443 | ENST00000327443 | SP1 | chr12 | 53810082 | + | SP1 | chr12 | 53775446 | + |
| intron-5UTR | ENST00000327443 | ENST00000426431 | SP1 | chr12 | 53810082 | + | SP1 | chr12 | 53775446 | + |
| 3UTR-3CDS | ENST00000426431 | ENST00000327443 | SP1 | chr12 | 53810082 | + | SP1 | chr12 | 53775446 | + |
| 3UTR-5UTR | ENST00000426431 | ENST00000426431 | SP1 | chr12 | 53810082 | + | SP1 | chr12 | 53775446 | + |
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FusionProtFeatures for SP1_SP1 |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| SP1 | SP1 |
| Transcription factor that can activate or represstranscription in response to physiological and pathologicalstimuli. Binds with high affinity to GC-rich motifs and regulatesthe expression of a large number of genes involved in a variety ofprocesses such as cell growth, apoptosis, differentiation andimmune responses. Highly regulated by post-translationalmodifications (phosphorylations, sumoylation, proteolyticcleavage, glycosylation and acetylation). Binds also the PDGFR-alpha G-box promoter. May have a role in modulating the cellularresponse to DNA damage. Implicated in chromatin remodeling. Playsan essential role in the regulation of FE65 gene expression. Incomplex with ATF7IP, maintains telomerase activity in cancer cellsby inducing TERT and TERC gene expression. Isoform 3 is a strongeractivator of transcription than isoform 1. Positively regulatesthe transcription of the core clock component ARNTL/BMAL1(PubMed:10391891, PubMed:11371615, PubMed:11904305,PubMed:14593115, PubMed:16377629, PubMed:16478997,PubMed:16943418, PubMed:17049555, PubMed:18171990,PubMed:18199680, PubMed:18239466, PubMed:18513490,PubMed:18619531, PubMed:19193796, PubMed:20091743,PubMed:21798247). Plays a role in the recruitment of SMARCA4/BRG1on the c-FOS promoter. Plays a role in protecting cells againstoxidative stress following brain injury by regulating theexpression of RNF112 (By similarity).{ECO:0000250|UniProtKB:O89090, ECO:0000250|UniProtKB:Q01714,ECO:0000269|PubMed:10391891, ECO:0000269|PubMed:11371615,ECO:0000269|PubMed:11904305, ECO:0000269|PubMed:14593115,ECO:0000269|PubMed:16377629, ECO:0000269|PubMed:16478997,ECO:0000269|PubMed:16943418, ECO:0000269|PubMed:17049555,ECO:0000269|PubMed:18171990, ECO:0000269|PubMed:18199680,ECO:0000269|PubMed:18239466, ECO:0000269|PubMed:18513490,ECO:0000269|PubMed:18619531, ECO:0000269|PubMed:19193796,ECO:0000269|PubMed:20091743, ECO:0000269|PubMed:21798247}. | Transcription factor that can activate or represstranscription in response to physiological and pathologicalstimuli. Binds with high affinity to GC-rich motifs and regulatesthe expression of a large number of genes involved in a variety ofprocesses such as cell growth, apoptosis, differentiation andimmune responses. Highly regulated by post-translationalmodifications (phosphorylations, sumoylation, proteolyticcleavage, glycosylation and acetylation). Binds also the PDGFR-alpha G-box promoter. May have a role in modulating the cellularresponse to DNA damage. Implicated in chromatin remodeling. Playsan essential role in the regulation of FE65 gene expression. Incomplex with ATF7IP, maintains telomerase activity in cancer cellsby inducing TERT and TERC gene expression. Isoform 3 is a strongeractivator of transcription than isoform 1. Positively regulatesthe transcription of the core clock component ARNTL/BMAL1(PubMed:10391891, PubMed:11371615, PubMed:11904305,PubMed:14593115, PubMed:16377629, PubMed:16478997,PubMed:16943418, PubMed:17049555, PubMed:18171990,PubMed:18199680, PubMed:18239466, PubMed:18513490,PubMed:18619531, PubMed:19193796, PubMed:20091743,PubMed:21798247). Plays a role in the recruitment of SMARCA4/BRG1on the c-FOS promoter. Plays a role in protecting cells againstoxidative stress following brain injury by regulating theexpression of RNF112 (By similarity).{ECO:0000250|UniProtKB:O89090, ECO:0000250|UniProtKB:Q01714,ECO:0000269|PubMed:10391891, ECO:0000269|PubMed:11371615,ECO:0000269|PubMed:11904305, ECO:0000269|PubMed:14593115,ECO:0000269|PubMed:16377629, ECO:0000269|PubMed:16478997,ECO:0000269|PubMed:16943418, ECO:0000269|PubMed:17049555,ECO:0000269|PubMed:18171990, ECO:0000269|PubMed:18199680,ECO:0000269|PubMed:18239466, ECO:0000269|PubMed:18513490,ECO:0000269|PubMed:18619531, ECO:0000269|PubMed:19193796,ECO:0000269|PubMed:20091743, ECO:0000269|PubMed:21798247}. |
| 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 SP1_SP1 |
| 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. |
| * Fusion transcript sequences (only coding sequence (CDS) region). |
| * Fusion transcript sequences (Full-length transcript). |
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FusionGenePPI for SP1_SP1 |
| 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 |
| - 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 SP1_SP1 |
| 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 SP1_SP1 |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Hgene | SP1 | C0036341 | Schizophrenia | 3 | PSYGENET |
| Hgene | SP1 | C0007621 | Neoplastic Cell Transformation | 1 | CTD_human |
| Hgene | SP1 | C0020456 | Hyperglycemia | 1 | CTD_human |
| Hgene | SP1 | C0027626 | Neoplasm Invasiveness | 1 | CTD_human |
| Hgene | SP1 | C0027627 | Neoplasm Metastasis | 1 | CTD_human |
| Hgene | SP1 | C0033975 | Psychotic Disorders | 1 | PSYGENET |
| Hgene | SP1 | C0037286 | Skin Neoplasms | 1 | CTD_human |
| Hgene | SP1 | C0221765 | Chronic schizophrenia | 1 | PSYGENET |
| Hgene | SP1 | C0349204 | Nonorganic psychosis | 1 | PSYGENET |
| Tgene | SP1 | C0036341 | Schizophrenia | 3 | PSYGENET |
| Tgene | SP1 | C0007621 | Neoplastic Cell Transformation | 1 | CTD_human |
| Tgene | SP1 | C0020456 | Hyperglycemia | 1 | CTD_human |
| Tgene | SP1 | C0027626 | Neoplasm Invasiveness | 1 | CTD_human |
| Tgene | SP1 | C0027627 | Neoplasm Metastasis | 1 | CTD_human |
| Tgene | SP1 | C0033975 | Psychotic Disorders | 1 | PSYGENET |
| Tgene | SP1 | C0037286 | Skin Neoplasms | 1 | CTD_human |
| Tgene | SP1 | C0221765 | Chronic schizophrenia | 1 | PSYGENET |
| Tgene | SP1 | C0349204 | Nonorganic psychosis | 1 | PSYGENET |
Copyright 2018-Present -The University of Texas Health Science Center at Houston (UTHealth)
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