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Fusion gene ID: 42531 |
FusionGeneSummary for ZBTB7A_COMP |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: ZBTB7A_COMP | Fusion gene ID: 42531 | Hgene | Tgene | Gene symbol | ZBTB7A | COMP | Gene ID | 51341 | 1311 |
| Gene name | zinc finger and BTB domain containing 7A | cartilage oligomeric matrix protein | |
| Synonyms | FBI-1|FBI1|LRF|TIP21|ZBTB7|ZNF857A|pokemon | EDM1|EPD1|MED|PSACH|THBS5|TSP5 | |
| Cytomap | 19p13.3 | 19p13.11 | |
| Type of gene | protein-coding | protein-coding | |
| Description | zinc finger and BTB domain-containing protein 7AHIV-1 1st-binding protein 1HIV-1 inducer of short transcripts binding proteinPOK erythroid myeloid ontogenic factorPOZ and Krueppel erythroid myeloid ontogenic factorTTF-I-interacting peptide 21factor | cartilage oligomeric matrix proteincartilage oligomeric matrix protein (pseudoachondroplasia, epiphyseal dysplasia 1, multiple)pseudoachondroplasia (epiphyseal dysplasia 1, multiple)thrombospondin-5 | |
| Modification date | 20180523 | 20180522 | |
| UniProtAcc | O95365 | P49747 | |
| Ensembl transtripts involved in fusion gene | ENST00000322357, ENST00000601588, | ENST00000542601, ENST00000222271, ENST00000425807, | |
| Fusion gene scores | * DoF score | 7 X 8 X 6=336 | 1 X 1 X 1=1 |
| # samples | 8 | 1 | |
| ** MAII score | log2(8/336*10)=-2.0703893278914 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(1/1*10)=3.32192809488736 | |
| Context | PubMed: ZBTB7A [Title/Abstract] AND COMP [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 |
| Tgene | COMP | GO:0043066 | negative regulation of apoptotic process | 17993464 |
| Tgene | COMP | GO:0060173 | limb development | 16542502 |
| 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 | LD | STAD | TCGA-VQ-A8PE-01A | ZBTB7A | chr19 | 4060602 | - | COMP | chr19 | 18899451 | - |
| * 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 | ENST00000322357 | ENST00000542601 | ZBTB7A | chr19 | 4060602 | - | COMP | chr19 | 18899451 | - |
| intron-3CDS | ENST00000322357 | ENST00000222271 | ZBTB7A | chr19 | 4060602 | - | COMP | chr19 | 18899451 | - |
| intron-3CDS | ENST00000322357 | ENST00000425807 | ZBTB7A | chr19 | 4060602 | - | COMP | chr19 | 18899451 | - |
| intron-3CDS | ENST00000601588 | ENST00000542601 | ZBTB7A | chr19 | 4060602 | - | COMP | chr19 | 18899451 | - |
| intron-3CDS | ENST00000601588 | ENST00000222271 | ZBTB7A | chr19 | 4060602 | - | COMP | chr19 | 18899451 | - |
| intron-3CDS | ENST00000601588 | ENST00000425807 | ZBTB7A | chr19 | 4060602 | - | COMP | chr19 | 18899451 | - |
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FusionProtFeatures for ZBTB7A_COMP |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| ZBTB7A | COMP |
| Plays a key role in the instruction of early lymphoidprogenitors to develop into B lineage by repressing T-cellinstructive Notch signals (By similarity). Specifically repressesthe transcription of the CDKN2A gene. Efficiently abrogates E2F1-dependent CDKN2A transactivation/de-repression. Binds to theconsensus sequence 5'-[GA][CA]GACCCCCCCCC-3' (By similarity).{ECO:0000250}. | May play a role in the structural integrity of cartilagevia its interaction with other extracellular matrix proteins suchas the collagens and fibronectin. Can mediate the interaction ofchondrocytes with the cartilage extracellular matrix throughinteraction with cell surface integrin receptors. Could play arole in the pathogenesis of osteoarthritis. Potent suppressor ofapoptosis in both primary chondrocytes and transformed cells.Suppresses apoptosis by blocking the activation of caspase-3 andby inducing the IAP family of survival proteins (BIRC3, BIRC2,BIRC5 and XIAP). Essential for maintaining a vascular smoothmuscle cells (VSMCs) contractile/differentiated phenotype underphysiological and pathological stimuli. Maintains this phenotypeof VSMCs by interacting with ITGA7 (By similarity). {ECO:0000250,ECO:0000269|PubMed:16051604, ECO:0000269|PubMed:16542502,ECO:0000269|PubMed:17993464}. |
| 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 ZBTB7A_COMP |
| 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 ZBTB7A_COMP |
| 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 |
| ZBTB7A | ZBTB7A, BCL6, TP53, HDAC1, HDAC2, HDAC3, SIRT1, NCOR1, NCOR2, SIN3A, RB1, BCOR, SP1, AR, TFAP4, EEF1A1, SREBF1, RELA, NFKBIB, NFKBIA, UTP20, SOX2, ZMYND8, ZBTB48, SOX9, HOMEZ, KHDRBS1, UBE2I, ETS1, SMAD4, TRIM25 | COMP | OTX1 |
| - 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 ZBTB7A_COMP |
| 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 |
| Tgene | COMP | P49747 | DB01373 | Calcium | Cartilage oligomeric matrix protein | small molecule | approved|nutraceutical |
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RelatedDiseases for ZBTB7A_COMP |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Hgene | ZBTB7A | C0017636 | Glioblastoma | 1 | CTD_human |
| Hgene | ZBTB7A | C0023467 | Leukemia, Myelocytic, Acute | 1 | CTD_human |
| Hgene | ZBTB7A | C0033578 | Prostatic Neoplasms | 1 | CTD_human |
| Tgene | COMP | C0410538 | Pseudoachondroplasia | 9 | CTD_human;ORPHANET;UNIPROT |
| Tgene | COMP | C1838280 | Epiphyseal dysplasia, multiple, 1 | 9 | CTD_human;ORPHANET;UNIPROT |
| Tgene | COMP | C0022410 | Joint Instability | 1 | CTD_human |
| Tgene | COMP | C0029408 | Degenerative polyarthritis | 1 | CTD_human;HPO |
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