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Fusion Protein:JARID2-HIVEP1 |
Fusion Protein Summary |
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Fusion partner gene information | Fusion gene name: JARID2-HIVEP1 | FusionPDB ID: 40888 | FusionGDB2.0 ID: 40888 | Hgene | Tgene | Gene symbol | JARID2 | HIVEP1 | Gene ID | 3720 | 3096 |
Gene name | jumonji and AT-rich interaction domain containing 2 | HIVEP zinc finger 1 | |
Synonyms | JMJ | CIRIP|CRYBP1|GAAP|MBP-1|PRDII-BF1|Schnurri-1|ZAS1|ZNF40|ZNF40A | |
Cytomap | 6p22.3 | 6p24.1 | |
Type of gene | protein-coding | protein-coding | |
Description | protein Jumonjijumonji homologjumonji, AT rich interactive domain 2jumonji-like proteinjumonji/ARID domain-containing protein 2 | zinc finger protein 40cirhin interaction proteingate keeper of apoptosis-activating proteinhuman immunodeficiency virus type I enhancer binding protein 1major histocompatibility complex binding protein 1positive regulatory domain II binding factor 1 | |
Modification date | 20200313 | 20200313 | |
UniProtAcc | Q92833 | P15822 | |
Ensembl transtripts involved in fusion gene | ENST ids | ENST00000474854, ENST00000341776, ENST00000397311, ENST00000541660, | ENST00000379388, ENST00000484210, ENST00000541134, |
Fusion gene scores for assessment (based on all fusion genes of FusionGDB 2.0) | * DoF score | 17 X 5 X 11=935 | 7 X 8 X 2=112 |
# samples | 18 | 8 | |
** MAII score | log2(18/935*10)=-2.37696945844532 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(8/112*10)=-0.485426827170242 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
Context (manual curation of fusion genes in FusionPDB) | PubMed: JARID2 [Title/Abstract] AND HIVEP1 [Title/Abstract] AND fusion [Title/Abstract] | ||
Most frequent breakpoint (based on all fusion genes of FusionGDB 2.0) | JARID2(15501640)-HIVEP1(12129992), # samples:1 | ||
Anticipated loss of major functional domain due to fusion event. | JARID2-HIVEP1 seems lost the major protein functional domain in Hgene partner, which is a CGC by not retaining the major functional domain in the partially deleted in-frame ORF. JARID2-HIVEP1 seems lost the major protein functional domain in Hgene partner, which is a CGC by not retaining the major functional domain in the partially deleted in-frame ORF. JARID2-HIVEP1 seems lost the major protein functional domain in Hgene partner, which is a essential gene by not retaining the major functional domain in the partially deleted in-frame ORF. JARID2-HIVEP1 seems lost the major protein functional domain in Hgene partner, which is a essential gene by not retaining the major functional domain in the partially deleted in-frame ORF. |
* DoF score (Degree of Frequency) = # partners X # break points X # cancer types ** MAII score (Major Active Isofusion Index) = log2(# samples/DoF score*10) |
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Partner | Gene | GO ID | GO term | PubMed ID |
Tgene | HIVEP1 | GO:0000122 | negative regulation of transcription by RNA polymerase II | 17008448 |
Tgene | HIVEP1 | GO:0030509 | BMP signaling pathway | 17008448 |
Tgene | HIVEP1 | GO:0045944 | positive regulation of transcription by RNA polymerase II | 17008448 |
![]() * Click on the image to open the UCSC genome browser with custom track showing this image in a new window. |
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![]() * Click on the image to open the UCSC genome browser with custom track showing this image in a new window. |
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Fusion Gene Sample Information |
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![]() * 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. |
Source | Disease | Sample | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand |
ChimerDB4 | BLCA | TCGA-DK-AA76-01A | JARID2 | chr6 | 15501640 | - | HIVEP1 | chr6 | 12129992 | + |
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Fusion ORF Analysis |
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Henst | Tenst | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand | Seq length (transcript) | BP loci (transcript) | Predicted start (transcript) | Predicted stop (transcript) | Seq length (amino acids) |
ENST00000341776 | JARID2 | chr6 | 15501640 | - | ENST00000379388 | HIVEP1 | chr6 | 12129992 | + | 5312 | 2692 | 232 | 4773 | 1513 |
ENST00000397311 | JARID2 | chr6 | 15501640 | - | ENST00000379388 | HIVEP1 | chr6 | 12129992 | + | 5076 | 2456 | 17 | 4537 | 1506 |
ENST00000541660 | JARID2 | chr6 | 15501640 | - | ENST00000379388 | HIVEP1 | chr6 | 12129992 | + | 5047 | 2427 | 63 | 4508 | 1481 |
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Henst | Tenst | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand | No-coding score | Coding score |
ENST00000341776 | ENST00000379388 | JARID2 | chr6 | 15501640 | - | HIVEP1 | chr6 | 12129992 | + | 0.002378643 | 0.99762136 |
ENST00000397311 | ENST00000379388 | JARID2 | chr6 | 15501640 | - | HIVEP1 | chr6 | 12129992 | + | 0.003483044 | 0.99651694 |
ENST00000541660 | ENST00000379388 | JARID2 | chr6 | 15501640 | - | HIVEP1 | chr6 | 12129992 | + | 0.002213926 | 0.99778605 |
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Fusion Amino Acid Sequences |
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>FusionGDB ID_FusionGDB isoform ID_FGname_Hgene_Hchr_Hbp_Henst_Tgene_Tchr_Tbp_Tenst_length(fusion AA) seq_BP >40888_40888_1_JARID2-HIVEP1_JARID2_chr6_15501640_ENST00000341776_HIVEP1_chr6_12129992_ENST00000379388_length(amino acids)=1513AA_BP=820 MDLRMSKERPKRNIIQKKYDDSDGIPWSEERVVRKVLYLSLKEFKNSQKRQHAEGIAGSLKTVNGLLGNDQSKGLGPASEQSENEKDDAS QVSSTSNDVSSSDFEEGPSRKRPRLQAQRKFAQSQPNSPSTTPVKIVEPLLPPPATQISDLSKRKPKTEDFLTFLCLRGSPALPNSMVYF GSSQDEEEVEEEDDETEDVKTATNNASSSCQSTPRKGKTHKHVHNGHVFNGSSRSTREKEPVQKHKSKEATPAKEKHSDHRADSRREQAS ANHPAAAPSTGSSAKGLAATHHHPPLHRSAQDLRKQVSKVNGVTRMSSLGAGVTSAKKMREVRPSPSKTVKYTATVTKGAVTYTKAKREL VKDTKPNHHKPSSAVNHTISGKTESSNAKTRKQVLSLGGASKSTGPAVNGLKVSGRLNPKSCTKEVGGRQLREGLQLREGLRNSKRRLEE AHQAEKPQSPPKKMKGAAGPAEGPGKKAPAERGLLNGHVKKEVPERSLERNRPKRATAGKSTPGRQAHGKADSASCENRSTSQPESVHKP QDSGKAEKGGGKAGWAAMDEIPVLRPSAKEFHDPLIYIESVRAQVEKFGMCRVIPPPDWRPECKLNDEMRFVTQIQHIHKLGRRWGPNVQ RLACIKKHLKSQGITMDELPLIGGCELDLACFFRLINEMGGMQQVTDLKKWNKLADMLRIPRTAQDRLAKLQEAYCQYLLSYDSLSPEEH RRLEKEVLMEKEILEKRKGPLEGHTENDHHKFHPLPRFEPKNGLIHGVAPRNGFRSKLKEVGQAQLKTGRRRLFAQEKEVVKEEEEDKGV LNDFHKCIYKRALGNQKSTVVEFSNKDASEINSEQDKENSLIKSEPRRIKIFDGGYKSNEEYVYVRGRGRGKYICEECGIRCKKPSMLKK HIRTHTDVRPYHCTYCNFSFKTKGNLTKHMKSKAHSKKCVDLGVSVGLIDEQDTEESDEKQRFSYERSGYDLEESDGPDEDDNENEDDDE DSQAESVLSATPSVTASPQHLPSRSSLQDPVSTDEDVRITDCFSGVHTDPMDVLPRALLTRMTVLSTAQSDYNRKTLSPGKARQRAARDE NDTIPSVDTSRSPCHQMSVDYPESEEILRSSMAGKAVAITQSPSSVRLPPAAAEHSPQTAAGMPSVASPHPDPQEQKQQITLQPTPGLPS PHTHLFSHLPLHSQQQSRTPYNMVPVGGIHVVPAGLTYSTFVPLQAGPVQLTIPAVSVVHRTLGTHRNTVTEVSGTTNPAGVAELSSVVP CIPIGQIRVPGLQNLSTPGLQSLPSLSMETVNIVGLANTNMAPQVHPPGLALNAVGLQVLTANPSSQSSPAPQAHIPGLQILNIALPTLI PSVSQVAVDAQGAPEMPASQSKACETQPKQTSVASANQVSRTESPQGLPTVQRENAKKVLNPPAPAGDHARLDGLSKMDTEKAASANHVK -------------------------------------------------------------- >40888_40888_2_JARID2-HIVEP1_JARID2_chr6_15501640_ENST00000397311_HIVEP1_chr6_12129992_ENST00000379388_length(amino acids)=1506AA_BP=813 MPSAPERRASHQDDSDGIPWSEERVVRKVLYLSLKEFKNSQKRQHAEGIAGSLKTVNGLLGNDQSKGLGPASEQSENEKDDASQVSSTSN DVSSSDFEEGPSRKRPRLQAQRKFAQSQPNSPSTTPVKIVEPLLPPPATQISDLSKRKPKTEDFLTFLCLRGSPALPNSMVYFGSSQDEE EVEEEDDETEDVKTATNNASSSCQSTPRKGKTHKHVHNGHVFNGSSRSTREKEPVQKHKSKEATPAKEKHSDHRADSRREQASANHPAAA PSTGSSAKGLAATHHHPPLHRSAQDLRKQVSKVNGVTRMSSLGAGVTSAKKMREVRPSPSKTVKYTATVTKGAVTYTKAKRELVKDTKPN HHKPSSAVNHTISGKTESSNAKTRKQVLSLGGASKSTGPAVNGLKVSGRLNPKSCTKEVGGRQLREGLQLREGLRNSKRRLEEAHQAEKP QSPPKKMKGAAGPAEGPGKKAPAERGLLNGHVKKEVPERSLERNRPKRATAGKSTPGRQAHGKADSASCENRSTSQPESVHKPQDSGKAE KGGGKAGWAAMDEIPVLRPSAKEFHDPLIYIESVRAQVEKFGMCRVIPPPDWRPECKLNDEMRFVTQIQHIHKLGRRWGPNVQRLACIKK HLKSQGITMDELPLIGGCELDLACFFRLINEMGGMQQVTDLKKWNKLADMLRIPRTAQDRLAKLQEAYCQYLLSYDSLSPEEHRRLEKEV LMEKEILEKRKGPLEGHTENDHHKFHPLPRFEPKNGLIHGVAPRNGFRSKLKEVGQAQLKTGRRRLFAQEKEVVKEEEEDKGVLNDFHKC IYKRALGNQKSTVVEFSNKDASEINSEQDKENSLIKSEPRRIKIFDGGYKSNEEYVYVRGRGRGKYICEECGIRCKKPSMLKKHIRTHTD VRPYHCTYCNFSFKTKGNLTKHMKSKAHSKKCVDLGVSVGLIDEQDTEESDEKQRFSYERSGYDLEESDGPDEDDNENEDDDEDSQAESV LSATPSVTASPQHLPSRSSLQDPVSTDEDVRITDCFSGVHTDPMDVLPRALLTRMTVLSTAQSDYNRKTLSPGKARQRAARDENDTIPSV DTSRSPCHQMSVDYPESEEILRSSMAGKAVAITQSPSSVRLPPAAAEHSPQTAAGMPSVASPHPDPQEQKQQITLQPTPGLPSPHTHLFS HLPLHSQQQSRTPYNMVPVGGIHVVPAGLTYSTFVPLQAGPVQLTIPAVSVVHRTLGTHRNTVTEVSGTTNPAGVAELSSVVPCIPIGQI RVPGLQNLSTPGLQSLPSLSMETVNIVGLANTNMAPQVHPPGLALNAVGLQVLTANPSSQSSPAPQAHIPGLQILNIALPTLIPSVSQVA VDAQGAPEMPASQSKACETQPKQTSVASANQVSRTESPQGLPTVQRENAKKVLNPPAPAGDHARLDGLSKMDTEKAASANHVKPKPELTS -------------------------------------------------------------- >40888_40888_3_JARID2-HIVEP1_JARID2_chr6_15501640_ENST00000541660_HIVEP1_chr6_12129992_ENST00000379388_length(amino acids)=1481AA_BP=788 MSLCNDPALRMAAPRVCQVQFLVAYLEEPGIEGLLGNDQSKGLGPASEQSENEKDDASQVSSTSNDVSSSDFEEGPSRKRPRLQAQRKFA QSQPNSPSTTPVKIVEPLLPPPATQISDLSKRKPKTEDFLTFLCLRGSPALPNSMVYFGSSQDEEEVEEEDDETEDVKTATNNASSSCQS TPRKGKTHKHVHNGHVFNGSSRSTREKEPVQKHKSKEATPAKEKHSDHRADSRREQASANHPAAAPSTGSSAKGLAATHHHPPLHRSAQD LRKQVSKVNGVTRMSSLGAGVTSAKKMREVRPSPSKTVKYTATVTKGAVTYTKAKRELVKDTKPNHHKPSSAVNHTISGKTESSNAKTRK QVLSLGGASKSTGPAVNGLKVSGRLNPKSCTKEVGGRQLREGLQLREGLRNSKRRLEEAHQAEKPQSPPKKMKGAAGPAEGPGKKAPAER GLLNGHVKKEVPERSLERNRPKRATAGKSTPGRQAHGKADSASCENRSTSQPESVHKPQDSGKAEKGGGKAGWAAMDEIPVLRPSAKEFH DPLIYIESVRAQVEKFGMCRVIPPPDWRPECKLNDEMRFVTQIQHIHKLGRRWGPNVQRLACIKKHLKSQGITMDELPLIGGCELDLACF FRLINEMGGMQQVTDLKKWNKLADMLRIPRTAQDRLAKLQEAYCQYLLSYDSLSPEEHRRLEKEVLMEKEILEKRKGPLEGHTENDHHKF HPLPRFEPKNGLIHGVAPRNGFRSKLKEVGQAQLKTGRRRLFAQEKEVVKEEEEDKGVLNDFHKCIYKRALGNQKSTVVEFSNKDASEIN SEQDKENSLIKSEPRRIKIFDGGYKSNEEYVYVRGRGRGKYICEECGIRCKKPSMLKKHIRTHTDVRPYHCTYCNFSFKTKGNLTKHMKS KAHSKKCVDLGVSVGLIDEQDTEESDEKQRFSYERSGYDLEESDGPDEDDNENEDDDEDSQAESVLSATPSVTASPQHLPSRSSLQDPVS TDEDVRITDCFSGVHTDPMDVLPRALLTRMTVLSTAQSDYNRKTLSPGKARQRAARDENDTIPSVDTSRSPCHQMSVDYPESEEILRSSM AGKAVAITQSPSSVRLPPAAAEHSPQTAAGMPSVASPHPDPQEQKQQITLQPTPGLPSPHTHLFSHLPLHSQQQSRTPYNMVPVGGIHVV PAGLTYSTFVPLQAGPVQLTIPAVSVVHRTLGTHRNTVTEVSGTTNPAGVAELSSVVPCIPIGQIRVPGLQNLSTPGLQSLPSLSMETVN IVGLANTNMAPQVHPPGLALNAVGLQVLTANPSSQSSPAPQAHIPGLQILNIALPTLIPSVSQVAVDAQGAPEMPASQSKACETQPKQTS VASANQVSRTESPQGLPTVQRENAKKVLNPPAPAGDHARLDGLSKMDTEKAASANHVKPKPELTSIQGQPASTSQPLLKAHSEVFTKPSG -------------------------------------------------------------- |
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Fusion Protein Functional Features |
![]() Go to FGviewer search page for the most frequent breakpoint (https://ccsmweb.uth.edu/FGviewer/chr6:15501640/chr6:12129992) - FGviewer provides the online visualization of the retention search of the protein functional features across DNA, RNA, protein, and pathological levels. - How to search 1. Put your fusion gene symbol. 2. Press the tab key until there will be shown the breakpoint information filled. 4. Go down and press 'Search' tab twice. 4. Go down to have the hyperlink of the search result. 5. Click the hyperlink. 6. See the FGviewer result for your fusion gene. |
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Hgene | Tgene |
JARID2 | HIVEP1 |
FUNCTION: Regulator of histone methyltransferase complexes that plays an essential role in embryonic development, including heart and liver development, neural tube fusion process and hematopoiesis (PubMed:20075857). Acts as an accessory subunit for the core PRC2 (Polycomb repressive complex 2) complex, which mediates histone H3K27 (H3K27me3) trimethylation on chromatin (PubMed:20075857, PubMed:29499137, PubMed:31959557). Binds DNA and mediates the recruitment of the PRC2 complex to target genes in embryonic stem cells, thereby playing a key role in stem cell differentiation and normal embryonic development (PubMed:20075857). In cardiac cells, it is required to repress expression of cyclin-D1 (CCND1) by activating methylation of 'Lys-9' of histone H3 (H3K9me) by the GLP1/EHMT1 and G9a/EHMT2 histone methyltransferases (By similarity). Also acts as a transcriptional repressor of ANF via its interaction with GATA4 and NKX2-5 (By similarity). Participates in the negative regulation of cell proliferation signaling (By similarity). Does not have histone demethylase activity (By similarity). {ECO:0000250|UniProtKB:Q62315, ECO:0000269|PubMed:20075857, ECO:0000269|PubMed:29499137, ECO:0000269|PubMed:31959557}. | FUNCTION: This protein specifically binds to the DNA sequence 5'-GGGACTTTCC-3' which is found in the enhancer elements of numerous viral promoters such as those of SV40, CMV, or HIV-1. In addition, related sequences are found in the enhancer elements of a number of cellular promoters, including those of the class I MHC, interleukin-2 receptor, and interferon-beta genes. It may act in T-cell activation. Involved in activating HIV-1 gene expression. Isoform 2 and isoform 3 also bind to the IPCS (IRF1 and p53 common sequence) DNA sequence in the promoter region of interferon regulatory factor 1 and p53 genes and are involved in transcription regulation of these genes. Isoform 2 does not activate HIV-1 gene expression. Isoform 2 and isoform 3 may be involved in apoptosis. |
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- 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 | JARID2 | chr6:15501640 | chr6:12129992 | ENST00000341776 | - | 8 | 18 | 557_598 | 816.0 | 1247.0 | Domain | JmjN |
Hgene | JARID2 | chr6:15501640 | chr6:12129992 | ENST00000341776 | - | 8 | 18 | 621_713 | 816.0 | 1247.0 | Domain | ARID |
Hgene | JARID2 | chr6:15501640 | chr6:12129992 | ENST00000397311 | - | 8 | 18 | 557_598 | 644.0 | 1075.0 | Domain | JmjN |
Hgene | JARID2 | chr6:15501640 | chr6:12129992 | ENST00000341776 | - | 8 | 18 | 104_110 | 816.0 | 1247.0 | Motif | Nuclear localization signal |
Hgene | JARID2 | chr6:15501640 | chr6:12129992 | ENST00000397311 | - | 8 | 18 | 104_110 | 644.0 | 1075.0 | Motif | Nuclear localization signal |
Tgene | HIVEP1 | chr6:15501640 | chr6:12129992 | ENST00000379388 | 3 | 9 | 2088_2110 | 2025.0 | 2719.0 | Zinc finger | C2H2-type 3 | |
Tgene | HIVEP1 | chr6:15501640 | chr6:12129992 | ENST00000379388 | 3 | 9 | 2116_2140 | 2025.0 | 2719.0 | Zinc finger | C2H2-type 4 |
- 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 | JARID2 | chr6:15501640 | chr6:12129992 | ENST00000341776 | - | 8 | 18 | 1234_1246 | 816.0 | 1247.0 | Compositional bias | Note=Poly-Ser |
Hgene | JARID2 | chr6:15501640 | chr6:12129992 | ENST00000397311 | - | 8 | 18 | 1234_1246 | 644.0 | 1075.0 | Compositional bias | Note=Poly-Ser |
Hgene | JARID2 | chr6:15501640 | chr6:12129992 | ENST00000341776 | - | 8 | 18 | 884_1048 | 816.0 | 1247.0 | Domain | JmjC |
Hgene | JARID2 | chr6:15501640 | chr6:12129992 | ENST00000397311 | - | 8 | 18 | 621_713 | 644.0 | 1075.0 | Domain | ARID |
Hgene | JARID2 | chr6:15501640 | chr6:12129992 | ENST00000397311 | - | 8 | 18 | 884_1048 | 644.0 | 1075.0 | Domain | JmjC |
Hgene | JARID2 | chr6:15501640 | chr6:12129992 | ENST00000341776 | - | 8 | 18 | 874_878 | 816.0 | 1247.0 | Motif | Note=GSGFP motif |
Hgene | JARID2 | chr6:15501640 | chr6:12129992 | ENST00000397311 | - | 8 | 18 | 874_878 | 644.0 | 1075.0 | Motif | Note=GSGFP motif |
Tgene | HIVEP1 | chr6:15501640 | chr6:12129992 | ENST00000379388 | 3 | 9 | 803_806 | 2025.0 | 2719.0 | Compositional bias | Note=Poly-Ser | |
Tgene | HIVEP1 | chr6:15501640 | chr6:12129992 | ENST00000379388 | 3 | 9 | 406_428 | 2025.0 | 2719.0 | Zinc finger | C2H2-type 1 | |
Tgene | HIVEP1 | chr6:15501640 | chr6:12129992 | ENST00000379388 | 3 | 9 | 434_456 | 2025.0 | 2719.0 | Zinc finger | C2H2-type 2 | |
Tgene | HIVEP1 | chr6:15501640 | chr6:12129992 | ENST00000379388 | 3 | 9 | 956_986 | 2025.0 | 2719.0 | Zinc finger | CCHC HIVEP-type |
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Fusion Protein-Protein Interaction |
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Gene | PPI interactors |
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Gene | STRING network |
JARID2 | |
HIVEP1 |
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Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Still interaction with |
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Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
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Related Drugs to JARID2-HIVEP1 |
![]() (Manual curation of PubMed, 04-30-2022 + MyCancerGenome) |
Hgene | Tgene | Drug | Source | PMID |
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Related Diseases to JARID2-HIVEP1 |
![]() (Manual curation of PubMed, 04-30-2022 + MyCancerGenome) |
Hgene | Tgene | Disease | Source | PMID |
![]() (DisGeNet 4.0) |
Partner | Gene | Disease ID | Disease name | # pubmeds | Source |