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Fusion Protein:PAX5-JAK2 |
Fusion Protein Summary |
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Fusion partner gene information | Fusion gene name: PAX5-JAK2 | FusionPDB ID: 62951 | FusionGDB2.0 ID: 62951 | Hgene | Tgene | Gene symbol | PAX5 | JAK2 | Gene ID | 5079 | 3717 |
Gene name | paired box 5 | Janus kinase 2 | |
Synonyms | ALL3|BSAP | JTK10|THCYT3 | |
Cytomap | 9p13.2 | 9p24.1 | |
Type of gene | protein-coding | protein-coding | |
Description | paired box protein Pax-5B-cell lineage specific activatorpaired box homeotic gene 5paired domain gene 5transcription factor PAX 5 | tyrosine-protein kinase JAK2JAK-2Janus kinase 2 (a protein tyrosine kinase) | |
Modification date | 20200313 | 20200329 | |
UniProtAcc | Q02548 | O60674 | |
Ensembl transtripts involved in fusion gene | ENST ids | ENST00000358127, ENST00000377847, ENST00000377852, ENST00000377853, ENST00000446742, ENST00000520154, ENST00000522003, ENST00000523145, ENST00000523241, ENST00000414447, ENST00000520281, | ENST00000487310, ENST00000381652, ENST00000539801, ENST00000544510, |
Fusion gene scores for assessment (based on all fusion genes of FusionGDB 2.0) | * DoF score | 15 X 15 X 7=1575 | 22 X 26 X 9=5148 |
# samples | 10 | 15 | |
** MAII score | log2(10/1575*10)=-3.97727992349992 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(15/5148*10)=-5.10097764772482 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
Context (manual curation of fusion genes in FusionPDB) | PubMed: PAX5 [Title/Abstract] AND JAK2 [Title/Abstract] AND fusion [Title/Abstract] | ||
Most frequent breakpoint (based on all fusion genes of FusionGDB 2.0) | |||
Anticipated loss of major functional domain due to fusion event. | PAX5-JAK2 seems lost the major protein functional domain in Hgene partner, which is a CGC due to the frame-shifted ORF. PAX5-JAK2 seems lost the major protein functional domain in Hgene partner, which is a transcription factor due to the frame-shifted ORF. PAX5-JAK2 seems lost the major protein functional domain in Hgene partner, which is a tumor suppressor due to the frame-shifted ORF. PAX5-JAK2 seems lost the major protein functional domain in Tgene partner, which is a CGC due to the frame-shifted ORF. PAX5-JAK2 seems lost the major protein functional domain in Tgene partner, which is a epigenetic factor due to the frame-shifted ORF. PAX5-JAK2 seems lost the major protein functional domain in Tgene partner, which is a IUPHAR drug target due to the frame-shifted ORF. PAX5-JAK2 seems lost the major protein functional domain in Tgene partner, which is a kinase due to the frame-shifted 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 | JAK2 | GO:0010811 | positive regulation of cell-substrate adhesion | 10925297 |
Tgene | JAK2 | GO:0019221 | cytokine-mediated signaling pathway | 8609418 |
Tgene | JAK2 | GO:0033209 | tumor necrosis factor-mediated signaling pathway | 8609418 |
Tgene | JAK2 | GO:0034612 | response to tumor necrosis factor | 8609418 |
Tgene | JAK2 | GO:0035409 | histone H3-Y41 phosphorylation | 19783980 |
Tgene | JAK2 | GO:0035722 | interleukin-12-mediated signaling pathway | 7528775 |
Tgene | JAK2 | GO:0046677 | response to antibiotic | 16280321 |
Tgene | JAK2 | GO:0050727 | regulation of inflammatory response | 10925297 |
Tgene | JAK2 | GO:0060396 | growth hormone receptor signaling pathway | 10925297 |
Tgene | JAK2 | GO:0070671 | response to interleukin-12 | 7528775 |
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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 |
ChimerKB3 | . | . | PAX5 | chr9 | 37002644 | - | JAK2 | chr9 | 5081724 | + |
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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) |
ENST00000358127 | PAX5 | chr9 | 37002644 | - | ENST00000539801 | JAK2 | chr9 | 5081724 | + | 1667 | 679 | 75 | 1643 | 522 |
ENST00000358127 | PAX5 | chr9 | 37002644 | - | ENST00000381652 | JAK2 | chr9 | 5081724 | + | 3036 | 679 | 75 | 1643 | 522 |
ENST00000358127 | PAX5 | chr9 | 37002644 | - | ENST00000544510 | JAK2 | chr9 | 5081724 | + | 1702 | 679 | 75 | 1643 | 522 |
ENST00000523241 | PAX5 | chr9 | 37002644 | - | ENST00000539801 | JAK2 | chr9 | 5081724 | + | 1602 | 614 | 10 | 1578 | 522 |
ENST00000523241 | PAX5 | chr9 | 37002644 | - | ENST00000381652 | JAK2 | chr9 | 5081724 | + | 2971 | 614 | 10 | 1578 | 522 |
ENST00000523241 | PAX5 | chr9 | 37002644 | - | ENST00000544510 | JAK2 | chr9 | 5081724 | + | 1637 | 614 | 10 | 1578 | 522 |
ENST00000520154 | PAX5 | chr9 | 37002644 | - | ENST00000539801 | JAK2 | chr9 | 5081724 | + | 1602 | 614 | 10 | 1578 | 522 |
ENST00000520154 | PAX5 | chr9 | 37002644 | - | ENST00000381652 | JAK2 | chr9 | 5081724 | + | 2971 | 614 | 10 | 1578 | 522 |
ENST00000520154 | PAX5 | chr9 | 37002644 | - | ENST00000544510 | JAK2 | chr9 | 5081724 | + | 1637 | 614 | 10 | 1578 | 522 |
ENST00000377852 | PAX5 | chr9 | 37002644 | - | ENST00000539801 | JAK2 | chr9 | 5081724 | + | 1602 | 614 | 10 | 1578 | 522 |
ENST00000377852 | PAX5 | chr9 | 37002644 | - | ENST00000381652 | JAK2 | chr9 | 5081724 | + | 2971 | 614 | 10 | 1578 | 522 |
ENST00000377852 | PAX5 | chr9 | 37002644 | - | ENST00000544510 | JAK2 | chr9 | 5081724 | + | 1637 | 614 | 10 | 1578 | 522 |
ENST00000377853 | PAX5 | chr9 | 37002644 | - | ENST00000539801 | JAK2 | chr9 | 5081724 | + | 1602 | 614 | 10 | 1578 | 522 |
ENST00000377853 | PAX5 | chr9 | 37002644 | - | ENST00000381652 | JAK2 | chr9 | 5081724 | + | 2971 | 614 | 10 | 1578 | 522 |
ENST00000377853 | PAX5 | chr9 | 37002644 | - | ENST00000544510 | JAK2 | chr9 | 5081724 | + | 1637 | 614 | 10 | 1578 | 522 |
ENST00000446742 | PAX5 | chr9 | 37002644 | - | ENST00000539801 | JAK2 | chr9 | 5081724 | + | 1394 | 406 | 0 | 1370 | 456 |
ENST00000446742 | PAX5 | chr9 | 37002644 | - | ENST00000381652 | JAK2 | chr9 | 5081724 | + | 2763 | 406 | 0 | 1370 | 456 |
ENST00000446742 | PAX5 | chr9 | 37002644 | - | ENST00000544510 | JAK2 | chr9 | 5081724 | + | 1429 | 406 | 0 | 1370 | 456 |
ENST00000377847 | PAX5 | chr9 | 37002644 | - | ENST00000539801 | JAK2 | chr9 | 5081724 | + | 1592 | 604 | 0 | 1568 | 522 |
ENST00000377847 | PAX5 | chr9 | 37002644 | - | ENST00000381652 | JAK2 | chr9 | 5081724 | + | 2961 | 604 | 0 | 1568 | 522 |
ENST00000377847 | PAX5 | chr9 | 37002644 | - | ENST00000544510 | JAK2 | chr9 | 5081724 | + | 1627 | 604 | 0 | 1568 | 522 |
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Henst | Tenst | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand | No-coding score | Coding score |
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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 >62951_62951_1_PAX5-JAK2_PAX5_chr9_37002644_ENST00000358127_JAK2_chr9_5081724_ENST00000381652_length(amino acids)=522AA_BP=201 MDLEKNYPTPRTSRTGHGGVNQLGGVFVNGRPLPDVVRQRIVELAHQGVRPCDISRQLRVSHGCVSKILGRYYETGSIKPGVIGGSKPKV ATPKVVEKIAEYKRQNPTMFAWEIRDRLLAERVCDNDTVPSVSSINRIIRTKVQQPPNQPVPASSHSIVSTGSVTQVSSVSTDSAGSSYS ISGILGITSPSADTNKRKRDEDYELLTENDMLPNMRIGALGFSGAFEDRDPTQFEERHLKFLQQLGKGNFGSVEMCRYDPLQDNTGEVVA VKKLQHSTEEHLRDFEREIEILKSLQHDNIVKYKGVCYSAGRRNLKLIMEYLPYGSLRDYLQKHKERIDHIKLLQYTSQICKGMEYLGTK RYIHRDLATRNILVENENRVKIGDFGLTKVLPQDKEYYKVKEPGESPIFWYAPESLTESKFSVASDVWSFGVVLYELFTYIEKSKSPPAE -------------------------------------------------------------- >62951_62951_2_PAX5-JAK2_PAX5_chr9_37002644_ENST00000358127_JAK2_chr9_5081724_ENST00000539801_length(amino acids)=522AA_BP=201 MDLEKNYPTPRTSRTGHGGVNQLGGVFVNGRPLPDVVRQRIVELAHQGVRPCDISRQLRVSHGCVSKILGRYYETGSIKPGVIGGSKPKV ATPKVVEKIAEYKRQNPTMFAWEIRDRLLAERVCDNDTVPSVSSINRIIRTKVQQPPNQPVPASSHSIVSTGSVTQVSSVSTDSAGSSYS ISGILGITSPSADTNKRKRDEDYELLTENDMLPNMRIGALGFSGAFEDRDPTQFEERHLKFLQQLGKGNFGSVEMCRYDPLQDNTGEVVA VKKLQHSTEEHLRDFEREIEILKSLQHDNIVKYKGVCYSAGRRNLKLIMEYLPYGSLRDYLQKHKERIDHIKLLQYTSQICKGMEYLGTK RYIHRDLATRNILVENENRVKIGDFGLTKVLPQDKEYYKVKEPGESPIFWYAPESLTESKFSVASDVWSFGVVLYELFTYIEKSKSPPAE -------------------------------------------------------------- >62951_62951_3_PAX5-JAK2_PAX5_chr9_37002644_ENST00000358127_JAK2_chr9_5081724_ENST00000544510_length(amino acids)=522AA_BP=201 MDLEKNYPTPRTSRTGHGGVNQLGGVFVNGRPLPDVVRQRIVELAHQGVRPCDISRQLRVSHGCVSKILGRYYETGSIKPGVIGGSKPKV ATPKVVEKIAEYKRQNPTMFAWEIRDRLLAERVCDNDTVPSVSSINRIIRTKVQQPPNQPVPASSHSIVSTGSVTQVSSVSTDSAGSSYS ISGILGITSPSADTNKRKRDEDYELLTENDMLPNMRIGALGFSGAFEDRDPTQFEERHLKFLQQLGKGNFGSVEMCRYDPLQDNTGEVVA VKKLQHSTEEHLRDFEREIEILKSLQHDNIVKYKGVCYSAGRRNLKLIMEYLPYGSLRDYLQKHKERIDHIKLLQYTSQICKGMEYLGTK RYIHRDLATRNILVENENRVKIGDFGLTKVLPQDKEYYKVKEPGESPIFWYAPESLTESKFSVASDVWSFGVVLYELFTYIEKSKSPPAE -------------------------------------------------------------- >62951_62951_4_PAX5-JAK2_PAX5_chr9_37002644_ENST00000377847_JAK2_chr9_5081724_ENST00000381652_length(amino acids)=522AA_BP=201 MDLEKNYPTPRTSRTGHGGVNQLGGVFVNGRPLPDVVRQRIVELAHQGVRPCDISRQLRVSHGCVSKILGRYYETGSIKPGVIGGSKPKV ATPKVVEKIAEYKRQNPTMFAWEIRDRLLAERVCDNDTVPSVSSINRIIRTKVQQPPNQPVPASSHSIVSTGSVTQVSSVSTDSAGSSYS ISGILGITSPSADTNKRKRDEDYELLTENDMLPNMRIGALGFSGAFEDRDPTQFEERHLKFLQQLGKGNFGSVEMCRYDPLQDNTGEVVA VKKLQHSTEEHLRDFEREIEILKSLQHDNIVKYKGVCYSAGRRNLKLIMEYLPYGSLRDYLQKHKERIDHIKLLQYTSQICKGMEYLGTK RYIHRDLATRNILVENENRVKIGDFGLTKVLPQDKEYYKVKEPGESPIFWYAPESLTESKFSVASDVWSFGVVLYELFTYIEKSKSPPAE -------------------------------------------------------------- >62951_62951_5_PAX5-JAK2_PAX5_chr9_37002644_ENST00000377847_JAK2_chr9_5081724_ENST00000539801_length(amino acids)=522AA_BP=201 MDLEKNYPTPRTSRTGHGGVNQLGGVFVNGRPLPDVVRQRIVELAHQGVRPCDISRQLRVSHGCVSKILGRYYETGSIKPGVIGGSKPKV ATPKVVEKIAEYKRQNPTMFAWEIRDRLLAERVCDNDTVPSVSSINRIIRTKVQQPPNQPVPASSHSIVSTGSVTQVSSVSTDSAGSSYS ISGILGITSPSADTNKRKRDEDYELLTENDMLPNMRIGALGFSGAFEDRDPTQFEERHLKFLQQLGKGNFGSVEMCRYDPLQDNTGEVVA VKKLQHSTEEHLRDFEREIEILKSLQHDNIVKYKGVCYSAGRRNLKLIMEYLPYGSLRDYLQKHKERIDHIKLLQYTSQICKGMEYLGTK RYIHRDLATRNILVENENRVKIGDFGLTKVLPQDKEYYKVKEPGESPIFWYAPESLTESKFSVASDVWSFGVVLYELFTYIEKSKSPPAE -------------------------------------------------------------- >62951_62951_6_PAX5-JAK2_PAX5_chr9_37002644_ENST00000377847_JAK2_chr9_5081724_ENST00000544510_length(amino acids)=522AA_BP=201 MDLEKNYPTPRTSRTGHGGVNQLGGVFVNGRPLPDVVRQRIVELAHQGVRPCDISRQLRVSHGCVSKILGRYYETGSIKPGVIGGSKPKV ATPKVVEKIAEYKRQNPTMFAWEIRDRLLAERVCDNDTVPSVSSINRIIRTKVQQPPNQPVPASSHSIVSTGSVTQVSSVSTDSAGSSYS ISGILGITSPSADTNKRKRDEDYELLTENDMLPNMRIGALGFSGAFEDRDPTQFEERHLKFLQQLGKGNFGSVEMCRYDPLQDNTGEVVA VKKLQHSTEEHLRDFEREIEILKSLQHDNIVKYKGVCYSAGRRNLKLIMEYLPYGSLRDYLQKHKERIDHIKLLQYTSQICKGMEYLGTK RYIHRDLATRNILVENENRVKIGDFGLTKVLPQDKEYYKVKEPGESPIFWYAPESLTESKFSVASDVWSFGVVLYELFTYIEKSKSPPAE -------------------------------------------------------------- >62951_62951_7_PAX5-JAK2_PAX5_chr9_37002644_ENST00000377852_JAK2_chr9_5081724_ENST00000381652_length(amino acids)=522AA_BP=201 MDLEKNYPTPRTSRTGHGGVNQLGGVFVNGRPLPDVVRQRIVELAHQGVRPCDISRQLRVSHGCVSKILGRYYETGSIKPGVIGGSKPKV ATPKVVEKIAEYKRQNPTMFAWEIRDRLLAERVCDNDTVPSVSSINRIIRTKVQQPPNQPVPASSHSIVSTGSVTQVSSVSTDSAGSSYS ISGILGITSPSADTNKRKRDEDYELLTENDMLPNMRIGALGFSGAFEDRDPTQFEERHLKFLQQLGKGNFGSVEMCRYDPLQDNTGEVVA VKKLQHSTEEHLRDFEREIEILKSLQHDNIVKYKGVCYSAGRRNLKLIMEYLPYGSLRDYLQKHKERIDHIKLLQYTSQICKGMEYLGTK RYIHRDLATRNILVENENRVKIGDFGLTKVLPQDKEYYKVKEPGESPIFWYAPESLTESKFSVASDVWSFGVVLYELFTYIEKSKSPPAE -------------------------------------------------------------- >62951_62951_8_PAX5-JAK2_PAX5_chr9_37002644_ENST00000377852_JAK2_chr9_5081724_ENST00000539801_length(amino acids)=522AA_BP=201 MDLEKNYPTPRTSRTGHGGVNQLGGVFVNGRPLPDVVRQRIVELAHQGVRPCDISRQLRVSHGCVSKILGRYYETGSIKPGVIGGSKPKV ATPKVVEKIAEYKRQNPTMFAWEIRDRLLAERVCDNDTVPSVSSINRIIRTKVQQPPNQPVPASSHSIVSTGSVTQVSSVSTDSAGSSYS ISGILGITSPSADTNKRKRDEDYELLTENDMLPNMRIGALGFSGAFEDRDPTQFEERHLKFLQQLGKGNFGSVEMCRYDPLQDNTGEVVA VKKLQHSTEEHLRDFEREIEILKSLQHDNIVKYKGVCYSAGRRNLKLIMEYLPYGSLRDYLQKHKERIDHIKLLQYTSQICKGMEYLGTK RYIHRDLATRNILVENENRVKIGDFGLTKVLPQDKEYYKVKEPGESPIFWYAPESLTESKFSVASDVWSFGVVLYELFTYIEKSKSPPAE -------------------------------------------------------------- >62951_62951_9_PAX5-JAK2_PAX5_chr9_37002644_ENST00000377852_JAK2_chr9_5081724_ENST00000544510_length(amino acids)=522AA_BP=201 MDLEKNYPTPRTSRTGHGGVNQLGGVFVNGRPLPDVVRQRIVELAHQGVRPCDISRQLRVSHGCVSKILGRYYETGSIKPGVIGGSKPKV ATPKVVEKIAEYKRQNPTMFAWEIRDRLLAERVCDNDTVPSVSSINRIIRTKVQQPPNQPVPASSHSIVSTGSVTQVSSVSTDSAGSSYS ISGILGITSPSADTNKRKRDEDYELLTENDMLPNMRIGALGFSGAFEDRDPTQFEERHLKFLQQLGKGNFGSVEMCRYDPLQDNTGEVVA VKKLQHSTEEHLRDFEREIEILKSLQHDNIVKYKGVCYSAGRRNLKLIMEYLPYGSLRDYLQKHKERIDHIKLLQYTSQICKGMEYLGTK RYIHRDLATRNILVENENRVKIGDFGLTKVLPQDKEYYKVKEPGESPIFWYAPESLTESKFSVASDVWSFGVVLYELFTYIEKSKSPPAE -------------------------------------------------------------- >62951_62951_10_PAX5-JAK2_PAX5_chr9_37002644_ENST00000377853_JAK2_chr9_5081724_ENST00000381652_length(amino acids)=522AA_BP=201 MDLEKNYPTPRTSRTGHGGVNQLGGVFVNGRPLPDVVRQRIVELAHQGVRPCDISRQLRVSHGCVSKILGRYYETGSIKPGVIGGSKPKV ATPKVVEKIAEYKRQNPTMFAWEIRDRLLAERVCDNDTVPSVSSINRIIRTKVQQPPNQPVPASSHSIVSTGSVTQVSSVSTDSAGSSYS ISGILGITSPSADTNKRKRDEDYELLTENDMLPNMRIGALGFSGAFEDRDPTQFEERHLKFLQQLGKGNFGSVEMCRYDPLQDNTGEVVA VKKLQHSTEEHLRDFEREIEILKSLQHDNIVKYKGVCYSAGRRNLKLIMEYLPYGSLRDYLQKHKERIDHIKLLQYTSQICKGMEYLGTK RYIHRDLATRNILVENENRVKIGDFGLTKVLPQDKEYYKVKEPGESPIFWYAPESLTESKFSVASDVWSFGVVLYELFTYIEKSKSPPAE -------------------------------------------------------------- >62951_62951_11_PAX5-JAK2_PAX5_chr9_37002644_ENST00000377853_JAK2_chr9_5081724_ENST00000539801_length(amino acids)=522AA_BP=201 MDLEKNYPTPRTSRTGHGGVNQLGGVFVNGRPLPDVVRQRIVELAHQGVRPCDISRQLRVSHGCVSKILGRYYETGSIKPGVIGGSKPKV ATPKVVEKIAEYKRQNPTMFAWEIRDRLLAERVCDNDTVPSVSSINRIIRTKVQQPPNQPVPASSHSIVSTGSVTQVSSVSTDSAGSSYS ISGILGITSPSADTNKRKRDEDYELLTENDMLPNMRIGALGFSGAFEDRDPTQFEERHLKFLQQLGKGNFGSVEMCRYDPLQDNTGEVVA VKKLQHSTEEHLRDFEREIEILKSLQHDNIVKYKGVCYSAGRRNLKLIMEYLPYGSLRDYLQKHKERIDHIKLLQYTSQICKGMEYLGTK RYIHRDLATRNILVENENRVKIGDFGLTKVLPQDKEYYKVKEPGESPIFWYAPESLTESKFSVASDVWSFGVVLYELFTYIEKSKSPPAE -------------------------------------------------------------- >62951_62951_12_PAX5-JAK2_PAX5_chr9_37002644_ENST00000377853_JAK2_chr9_5081724_ENST00000544510_length(amino acids)=522AA_BP=201 MDLEKNYPTPRTSRTGHGGVNQLGGVFVNGRPLPDVVRQRIVELAHQGVRPCDISRQLRVSHGCVSKILGRYYETGSIKPGVIGGSKPKV ATPKVVEKIAEYKRQNPTMFAWEIRDRLLAERVCDNDTVPSVSSINRIIRTKVQQPPNQPVPASSHSIVSTGSVTQVSSVSTDSAGSSYS ISGILGITSPSADTNKRKRDEDYELLTENDMLPNMRIGALGFSGAFEDRDPTQFEERHLKFLQQLGKGNFGSVEMCRYDPLQDNTGEVVA VKKLQHSTEEHLRDFEREIEILKSLQHDNIVKYKGVCYSAGRRNLKLIMEYLPYGSLRDYLQKHKERIDHIKLLQYTSQICKGMEYLGTK RYIHRDLATRNILVENENRVKIGDFGLTKVLPQDKEYYKVKEPGESPIFWYAPESLTESKFSVASDVWSFGVVLYELFTYIEKSKSPPAE -------------------------------------------------------------- >62951_62951_13_PAX5-JAK2_PAX5_chr9_37002644_ENST00000446742_JAK2_chr9_5081724_ENST00000381652_length(amino acids)=456AA_BP=135 MDLEKNYPTPRTSRTGHGGVNQLGGVFVNGRPLPDVVRQRIVELAHQGVRPCDISRQLRVSHGCVSKILGRIIRTKVQQPPNQPVPASSH SIVSTGSVTQVSSVSTDSAGSSYSISGILGITSPSADTNKRKRDEDYELLTENDMLPNMRIGALGFSGAFEDRDPTQFEERHLKFLQQLG KGNFGSVEMCRYDPLQDNTGEVVAVKKLQHSTEEHLRDFEREIEILKSLQHDNIVKYKGVCYSAGRRNLKLIMEYLPYGSLRDYLQKHKE RIDHIKLLQYTSQICKGMEYLGTKRYIHRDLATRNILVENENRVKIGDFGLTKVLPQDKEYYKVKEPGESPIFWYAPESLTESKFSVASD VWSFGVVLYELFTYIEKSKSPPAEFMRMIGNDKQGQMIVFHLIELLKNNGRLPRPDGCPDEIYMIMTECWNNNVNQRPSFRDLALRVDQI -------------------------------------------------------------- >62951_62951_14_PAX5-JAK2_PAX5_chr9_37002644_ENST00000446742_JAK2_chr9_5081724_ENST00000539801_length(amino acids)=456AA_BP=135 MDLEKNYPTPRTSRTGHGGVNQLGGVFVNGRPLPDVVRQRIVELAHQGVRPCDISRQLRVSHGCVSKILGRIIRTKVQQPPNQPVPASSH SIVSTGSVTQVSSVSTDSAGSSYSISGILGITSPSADTNKRKRDEDYELLTENDMLPNMRIGALGFSGAFEDRDPTQFEERHLKFLQQLG KGNFGSVEMCRYDPLQDNTGEVVAVKKLQHSTEEHLRDFEREIEILKSLQHDNIVKYKGVCYSAGRRNLKLIMEYLPYGSLRDYLQKHKE RIDHIKLLQYTSQICKGMEYLGTKRYIHRDLATRNILVENENRVKIGDFGLTKVLPQDKEYYKVKEPGESPIFWYAPESLTESKFSVASD VWSFGVVLYELFTYIEKSKSPPAEFMRMIGNDKQGQMIVFHLIELLKNNGRLPRPDGCPDEIYMIMTECWNNNVNQRPSFRDLALRVDQI -------------------------------------------------------------- >62951_62951_15_PAX5-JAK2_PAX5_chr9_37002644_ENST00000446742_JAK2_chr9_5081724_ENST00000544510_length(amino acids)=456AA_BP=135 MDLEKNYPTPRTSRTGHGGVNQLGGVFVNGRPLPDVVRQRIVELAHQGVRPCDISRQLRVSHGCVSKILGRIIRTKVQQPPNQPVPASSH SIVSTGSVTQVSSVSTDSAGSSYSISGILGITSPSADTNKRKRDEDYELLTENDMLPNMRIGALGFSGAFEDRDPTQFEERHLKFLQQLG KGNFGSVEMCRYDPLQDNTGEVVAVKKLQHSTEEHLRDFEREIEILKSLQHDNIVKYKGVCYSAGRRNLKLIMEYLPYGSLRDYLQKHKE RIDHIKLLQYTSQICKGMEYLGTKRYIHRDLATRNILVENENRVKIGDFGLTKVLPQDKEYYKVKEPGESPIFWYAPESLTESKFSVASD VWSFGVVLYELFTYIEKSKSPPAEFMRMIGNDKQGQMIVFHLIELLKNNGRLPRPDGCPDEIYMIMTECWNNNVNQRPSFRDLALRVDQI -------------------------------------------------------------- >62951_62951_16_PAX5-JAK2_PAX5_chr9_37002644_ENST00000520154_JAK2_chr9_5081724_ENST00000381652_length(amino acids)=522AA_BP=201 MDLEKNYPTPRTSRTGHGGVNQLGGVFVNGRPLPDVVRQRIVELAHQGVRPCDISRQLRVSHGCVSKILGRYYETGSIKPGVIGGSKPKV ATPKVVEKIAEYKRQNPTMFAWEIRDRLLAERVCDNDTVPSVSSINRIIRTKVQQPPNQPVPASSHSIVSTGSVTQVSSVSTDSAGSSYS ISGILGITSPSADTNKRKRDEDYELLTENDMLPNMRIGALGFSGAFEDRDPTQFEERHLKFLQQLGKGNFGSVEMCRYDPLQDNTGEVVA VKKLQHSTEEHLRDFEREIEILKSLQHDNIVKYKGVCYSAGRRNLKLIMEYLPYGSLRDYLQKHKERIDHIKLLQYTSQICKGMEYLGTK RYIHRDLATRNILVENENRVKIGDFGLTKVLPQDKEYYKVKEPGESPIFWYAPESLTESKFSVASDVWSFGVVLYELFTYIEKSKSPPAE -------------------------------------------------------------- >62951_62951_17_PAX5-JAK2_PAX5_chr9_37002644_ENST00000520154_JAK2_chr9_5081724_ENST00000539801_length(amino acids)=522AA_BP=201 MDLEKNYPTPRTSRTGHGGVNQLGGVFVNGRPLPDVVRQRIVELAHQGVRPCDISRQLRVSHGCVSKILGRYYETGSIKPGVIGGSKPKV ATPKVVEKIAEYKRQNPTMFAWEIRDRLLAERVCDNDTVPSVSSINRIIRTKVQQPPNQPVPASSHSIVSTGSVTQVSSVSTDSAGSSYS ISGILGITSPSADTNKRKRDEDYELLTENDMLPNMRIGALGFSGAFEDRDPTQFEERHLKFLQQLGKGNFGSVEMCRYDPLQDNTGEVVA VKKLQHSTEEHLRDFEREIEILKSLQHDNIVKYKGVCYSAGRRNLKLIMEYLPYGSLRDYLQKHKERIDHIKLLQYTSQICKGMEYLGTK RYIHRDLATRNILVENENRVKIGDFGLTKVLPQDKEYYKVKEPGESPIFWYAPESLTESKFSVASDVWSFGVVLYELFTYIEKSKSPPAE -------------------------------------------------------------- >62951_62951_18_PAX5-JAK2_PAX5_chr9_37002644_ENST00000520154_JAK2_chr9_5081724_ENST00000544510_length(amino acids)=522AA_BP=201 MDLEKNYPTPRTSRTGHGGVNQLGGVFVNGRPLPDVVRQRIVELAHQGVRPCDISRQLRVSHGCVSKILGRYYETGSIKPGVIGGSKPKV ATPKVVEKIAEYKRQNPTMFAWEIRDRLLAERVCDNDTVPSVSSINRIIRTKVQQPPNQPVPASSHSIVSTGSVTQVSSVSTDSAGSSYS ISGILGITSPSADTNKRKRDEDYELLTENDMLPNMRIGALGFSGAFEDRDPTQFEERHLKFLQQLGKGNFGSVEMCRYDPLQDNTGEVVA VKKLQHSTEEHLRDFEREIEILKSLQHDNIVKYKGVCYSAGRRNLKLIMEYLPYGSLRDYLQKHKERIDHIKLLQYTSQICKGMEYLGTK RYIHRDLATRNILVENENRVKIGDFGLTKVLPQDKEYYKVKEPGESPIFWYAPESLTESKFSVASDVWSFGVVLYELFTYIEKSKSPPAE -------------------------------------------------------------- >62951_62951_19_PAX5-JAK2_PAX5_chr9_37002644_ENST00000523241_JAK2_chr9_5081724_ENST00000381652_length(amino acids)=522AA_BP=201 MDLEKNYPTPRTSRTGHGGVNQLGGVFVNGRPLPDVVRQRIVELAHQGVRPCDISRQLRVSHGCVSKILGRYYETGSIKPGVIGGSKPKV ATPKVVEKIAEYKRQNPTMFAWEIRDRLLAERVCDNDTVPSVSSINRIIRTKVQQPPNQPVPASSHSIVSTGSVTQVSSVSTDSAGSSYS ISGILGITSPSADTNKRKRDEDYELLTENDMLPNMRIGALGFSGAFEDRDPTQFEERHLKFLQQLGKGNFGSVEMCRYDPLQDNTGEVVA VKKLQHSTEEHLRDFEREIEILKSLQHDNIVKYKGVCYSAGRRNLKLIMEYLPYGSLRDYLQKHKERIDHIKLLQYTSQICKGMEYLGTK RYIHRDLATRNILVENENRVKIGDFGLTKVLPQDKEYYKVKEPGESPIFWYAPESLTESKFSVASDVWSFGVVLYELFTYIEKSKSPPAE -------------------------------------------------------------- >62951_62951_20_PAX5-JAK2_PAX5_chr9_37002644_ENST00000523241_JAK2_chr9_5081724_ENST00000539801_length(amino acids)=522AA_BP=201 MDLEKNYPTPRTSRTGHGGVNQLGGVFVNGRPLPDVVRQRIVELAHQGVRPCDISRQLRVSHGCVSKILGRYYETGSIKPGVIGGSKPKV ATPKVVEKIAEYKRQNPTMFAWEIRDRLLAERVCDNDTVPSVSSINRIIRTKVQQPPNQPVPASSHSIVSTGSVTQVSSVSTDSAGSSYS ISGILGITSPSADTNKRKRDEDYELLTENDMLPNMRIGALGFSGAFEDRDPTQFEERHLKFLQQLGKGNFGSVEMCRYDPLQDNTGEVVA VKKLQHSTEEHLRDFEREIEILKSLQHDNIVKYKGVCYSAGRRNLKLIMEYLPYGSLRDYLQKHKERIDHIKLLQYTSQICKGMEYLGTK RYIHRDLATRNILVENENRVKIGDFGLTKVLPQDKEYYKVKEPGESPIFWYAPESLTESKFSVASDVWSFGVVLYELFTYIEKSKSPPAE -------------------------------------------------------------- >62951_62951_21_PAX5-JAK2_PAX5_chr9_37002644_ENST00000523241_JAK2_chr9_5081724_ENST00000544510_length(amino acids)=522AA_BP=201 MDLEKNYPTPRTSRTGHGGVNQLGGVFVNGRPLPDVVRQRIVELAHQGVRPCDISRQLRVSHGCVSKILGRYYETGSIKPGVIGGSKPKV ATPKVVEKIAEYKRQNPTMFAWEIRDRLLAERVCDNDTVPSVSSINRIIRTKVQQPPNQPVPASSHSIVSTGSVTQVSSVSTDSAGSSYS ISGILGITSPSADTNKRKRDEDYELLTENDMLPNMRIGALGFSGAFEDRDPTQFEERHLKFLQQLGKGNFGSVEMCRYDPLQDNTGEVVA VKKLQHSTEEHLRDFEREIEILKSLQHDNIVKYKGVCYSAGRRNLKLIMEYLPYGSLRDYLQKHKERIDHIKLLQYTSQICKGMEYLGTK RYIHRDLATRNILVENENRVKIGDFGLTKVLPQDKEYYKVKEPGESPIFWYAPESLTESKFSVASDVWSFGVVLYELFTYIEKSKSPPAE -------------------------------------------------------------- |
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Fusion Protein Functional Features |
![]() Go to FGviewer search page for the most frequent breakpoint (https://ccsmweb.uth.edu/FGviewer/chr9:/chr9:) - 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 |
PAX5 | JAK2 |
FUNCTION: Transcription factor that plays an essential role in commitment of lymphoid progenitors to the B-lymphocyte lineage (PubMed:10811620, PubMed:27181361). Fulfills a dual role by repressing B-lineage inappropriate genes and simultaneously activating B-lineage-specific genes (PubMed:10811620, PubMed:27181361). In turn, regulates cell adhesion and migration, induces V(H)-to-D(H)J(H) recombination, facilitates pre-B-cell receptor signaling and promotes development to the mature B-cell stage (PubMed:32612238). Repression of the cohesin-release factor WAPL causes global changes of the chromosomal architecture in pro-B cells to facilitate the generation of a diverse antibody repertoire (PubMed:32612238). {ECO:0000269|PubMed:10811620, ECO:0000269|PubMed:27181361, ECO:0000269|PubMed:32612238}.; FUNCTION: (Microbial infection) Plays an essential role in the maintenance of Epstein-Barr virus genome copy number within the host cell by promoting EBNA1/oriP-dependent binding and transcription (PubMed:31941781). Participates also in the inhibition of lytic EBV reactivation by modulating viral BZLF1 activity (PubMed:23678172). {ECO:0000269|PubMed:23678172, ECO:0000269|PubMed:31941781}. | FUNCTION: Non-receptor tyrosine kinase involved in various processes such as cell growth, development, differentiation or histone modifications. Mediates essential signaling events in both innate and adaptive immunity. In the cytoplasm, plays a pivotal role in signal transduction via its association with type I receptors such as growth hormone (GHR), prolactin (PRLR), leptin (LEPR), erythropoietin (EPOR), thrombopoietin (THPO); or type II receptors including IFN-alpha, IFN-beta, IFN-gamma and multiple interleukins (PubMed:7615558). Following ligand-binding to cell surface receptors, phosphorylates specific tyrosine residues on the cytoplasmic tails of the receptor, creating docking sites for STATs proteins (PubMed:9618263). Subsequently, phosphorylates the STATs proteins once they are recruited to the receptor. Phosphorylated STATs then form homodimer or heterodimers and translocate to the nucleus to activate gene transcription. For example, cell stimulation with erythropoietin (EPO) during erythropoiesis leads to JAK2 autophosphorylation, activation, and its association with erythropoietin receptor (EPOR) that becomes phosphorylated in its cytoplasmic domain. Then, STAT5 (STAT5A or STAT5B) is recruited, phosphorylated and activated by JAK2. Once activated, dimerized STAT5 translocates into the nucleus and promotes the transcription of several essential genes involved in the modulation of erythropoiesis. Part of a signaling cascade that is activated by increased cellular retinol and that leads to the activation of STAT5 (STAT5A or STAT5B) (PubMed:21368206). In addition, JAK2 mediates angiotensin-2-induced ARHGEF1 phosphorylation (PubMed:20098430). Plays a role in cell cycle by phosphorylating CDKN1B (PubMed:21423214). Cooperates with TEC through reciprocal phosphorylation to mediate cytokine-driven activation of FOS transcription. In the nucleus, plays a key role in chromatin by specifically mediating phosphorylation of 'Tyr-41' of histone H3 (H3Y41ph), a specific tag that promotes exclusion of CBX5 (HP1 alpha) from chromatin (PubMed:19783980). {ECO:0000269|PubMed:12023369, ECO:0000269|PubMed:19783980, ECO:0000269|PubMed:20098430, ECO:0000269|PubMed:21368206, ECO:0000269|PubMed:21423214, ECO:0000269|PubMed:7615558, ECO:0000269|PubMed:9618263}. |
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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 |
- 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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Fusion Protein Structures |
![]() * Here we show the 3D structure of the fusion proteins using Mol*. AlphaFold produces a per-residue confidence score (pLDDT) between 0 and 100. Model confidence is shown from the pLDDT values per residue. pLDDT corresponds to the model’s prediction of its score on the local Distance Difference Test. It is a measure of local accuracy (from AlphfaFold website). To color code individual residues, we transformed individual PDB files into CIF format. |
Fusion protein PDB link (fusion AA seq ID in FusionPDB) | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand | AA seq | Len(AA seq) |
PDB file (227) >>>227.pdbFusion protein BP residue: 135 CIF file (227) >>>227.cif | PAX5 | chr9 | 37002644 | - | JAK2 | chr9 | 5081724 | + | MDLEKNYPTPRTSRTGHGGVNQLGGVFVNGRPLPDVVRQRIVELAHQGVR PCDISRQLRVSHGCVSKILGRIIRTKVQQPPNQPVPASSHSIVSTGSVTQ VSSVSTDSAGSSYSISGILGITSPSADTNKRKRDEDYELLTENDMLPNMR IGALGFSGAFEDRDPTQFEERHLKFLQQLGKGNFGSVEMCRYDPLQDNTG EVVAVKKLQHSTEEHLRDFEREIEILKSLQHDNIVKYKGVCYSAGRRNLK LIMEYLPYGSLRDYLQKHKERIDHIKLLQYTSQICKGMEYLGTKRYIHRD LATRNILVENENRVKIGDFGLTKVLPQDKEYYKVKEPGESPIFWYAPESL TESKFSVASDVWSFGVVLYELFTYIEKSKSPPAEFMRMIGNDKQGQMIVF HLIELLKNNGRLPRPDGCPDEIYMIMTECWNNNVNQRPSFRDLALRVDQI | 456 |
3D view using mol* of 227 (AA BP:135) | ||||||||||
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PDB file (341) >>>341.pdbFusion protein BP residue: 201 CIF file (341) >>>341.cif | PAX5 | chr9 | 37002644 | - | JAK2 | chr9 | 5081724 | + | MDLEKNYPTPRTSRTGHGGVNQLGGVFVNGRPLPDVVRQRIVELAHQGVR PCDISRQLRVSHGCVSKILGRYYETGSIKPGVIGGSKPKVATPKVVEKIA EYKRQNPTMFAWEIRDRLLAERVCDNDTVPSVSSINRIIRTKVQQPPNQP VPASSHSIVSTGSVTQVSSVSTDSAGSSYSISGILGITSPSADTNKRKRD EDYELLTENDMLPNMRIGALGFSGAFEDRDPTQFEERHLKFLQQLGKGNF GSVEMCRYDPLQDNTGEVVAVKKLQHSTEEHLRDFEREIEILKSLQHDNI VKYKGVCYSAGRRNLKLIMEYLPYGSLRDYLQKHKERIDHIKLLQYTSQI CKGMEYLGTKRYIHRDLATRNILVENENRVKIGDFGLTKVLPQDKEYYKV KEPGESPIFWYAPESLTESKFSVASDVWSFGVVLYELFTYIEKSKSPPAE FMRMIGNDKQGQMIVFHLIELLKNNGRLPRPDGCPDEIYMIMTECWNNNV | 522 |
3D view using mol* of 341 (AA BP:201) | ||||||||||
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pLDDT score distribution |
![]() * AlphaFold produces a per-residue confidence score (pLDDT) between 0 and 100. |
PAX5_pLDDT.png![]() |
JAK2_pLDDT.png![]() |
![]() * AlphaFold produces a per-residue confidence score (pLDDT) between 0 and 100. |
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Ramachandran Plot of Fusion Protein Structure |
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Fusion AA seq ID in FusionPDB and their Ramachandran plots |
PAX5_JAK2_227.png |
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PAX5_JAK2_341.png |
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Potential Active Site Information |
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Fusion AA seq ID in FusionPDB | Site score | Size | D score | Volume | Exposure | Enclosure | Contact | Phobic | Philic | Balance | Don/Acc | Residues |
227 | 1.026 | 365 | 1.039 | 920.612 | 0.494 | 0.736 | 0.967 | 0.773 | 1.052 | 0.735 | 0.771 | Chain A: 101,102,103,104,105,106,107,109,110,111,1 12,113,177,178,179,180,181,182,183,187,204,206,222 ,226,235,251,253,254,255,256,257,258,259,260,262,2 63,264,266,267,268,300,302,303,304,305,307,317,318 ,319,341,344,370,375,377,380,381,382,383,386 |
341 | 1.043 | 523 | 1.034 | 1642.284 | 0.49 | 0.763 | 0.99 | 0.683 | 1.116 | 0.612 | 0.756 | Chain A: 173,174,175,176,177,179,180,181,182,183,1 87,188,189,190,245,246,247,248,249,250,251,252,253 ,270,272,273,274,278,280,281,283,284,285,287,288,2 91,292,301,317,319,320,321,322,324,325,326,328,329 ,332,333,364,365,366,368,369,370,371,373,383,384,3 85,386,387,388,389,392,395,397,398,399,400,401,402 ,403,404,405,406,407,408,410,411,415,416,419,421,4 36,441,442,443,446,447,448,449,452 |
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Potentially Interacting Small Molecules through Virtual Screening |
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Fusion AA seq ID in FusionPDB | ZINC ID | DrugBank ID | Drug name | Docking score | Glide gscore |
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ZINC ID | DrugBank ID | Drug name | Drug type | SMILES | Drug group |
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Biochemical Features of Small Molecules |
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ZINC ID | mol_MW | dipole | SASA | FOSA | FISA | PISA | WPSA | volume | donorHB | accptHB | IP | Human Oral Absorption | Percent Human Oral Absorption | Rule Of Five | Rule Of Three |
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Drug Toxicity Information |
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ZINC ID | Smile | Surface Accessibility | Toxicity |
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Fusion Protein-Protein Interaction |
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Gene | PPI interactors |
JAK2 | PRMT5, SOCS1, PPIA, IL12RB2, EPOR, FYN, STAT5A, STAT5B, SH2B2, CXCR4, DNAJA3, HSPA8, TEC, PTPN12, PTK2, CSF2RB, GHR, VAV1, SIRPA, IRS1, BRCA1, GRB2, EGFR, PTK2B, PTPN11, TNFRSF1A, SOCS3, PTPN6, LYN, HTR2A, ERBB2, ELP2, KIT, RAF1, SH2B1, IL5RA, PPP2R1B, IFNGR1, IFNGR2, CCR5, PRLR, IL6ST, SHC1, GRB10, TUB, TSHR, STAT3, INSR, STAM, PTPN1, STAM2, IL2RB, CTLA4, ALK, IKBKG, FGFR1, STAT1, HSP90AA1, HSP90AB1, ASB2, SKP2, GTF2I, HIST3H3, HIST2H3C, CDKN1B, VHL, PIK3R1, MAP3K5, AGTR1, PTAFR, JAK2, IL4R, IL2RG, PPP1CC, ERBB3, CALM1, SRC, JAK3, PLCG1, HES1, HES5, Ifngr1, ASS1, RBMX, TRAF6, EZH2, DTX3L, EMD, KPNB1, NAP1L1, RCN1, SLC2A1, UBP1, ARL11, HSFY1, HDAC6, HNRNPL, CBL, RNF123, Lmo4, GOLPH3, IGF1R, PARP9, LNX1, LDOC1, CSK, MPL, CUL4A, CUL4B, M, JAK1, AMY1C, BPIFA2, ARHGAP18, BACH1, IGHA2, HMMR, MUC7, CST2, IGJ, PBK, MUC5B, SPRR3, ZG16B, VCP, |
PAX5 | TLE4, DAXX, RUNX1, MYB, ID3, EP300, TBP, RB1, MAPK1, KAT2B, CDKN1B, UBE3A, RAD52, HMGB3, HOXC8, MAPK9, NFYC, FBLN1, GRHL2, DTX2, CSNK2A1, UBE2I, CCNC, BCAS2, C1orf109, GNG13, ZMYM5, SEC14L4, RNF144B, OSGIN1, CIB3, SAE1, STAC, TLK2, HMBOX1, NGLY1, NEIL2, LONRF1, LDLRAP1, LARP4, UBXN7, ACOT12, CKS1B, KLHL38, HGS, CXorf38, KRTAP10-8, PNMA5, KRTAP9-3, UBXN2B, CDK3, BKRF1, HIST1H3A, PAX8, KLHL14, |
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Gene | STRING network |
PAX5 | ![]() |
JAK2 | ![]() |
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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 PAX5-JAK2 |
![]() (Manual curation of PubMed, 04-30-2022 + MyCancerGenome) |
Hgene | Tgene | Drug | Source | PMID |
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Related Diseases to PAX5-JAK2 |
![]() (Manual curation of PubMed, 04-30-2022 + MyCancerGenome) |
Hgene | Tgene | Disease | Source | PMID |
PAX5 | JAK2 | Gastric Adenocarcinoma | MyCancerGenome | |
PAX5 | JAK2 | Glioblastoma | MyCancerGenome | |
PAX5 | JAK2 | Invasive Breast Carcinoma | MyCancerGenome | |
PAX5 | JAK2 | Acute Myeloid Leukemia | MyCancerGenome | |
PAX5 | JAK2 | Adenocarcinoma Of Unknown Primary | MyCancerGenome |
![]() (DisGeNet 4.0) |
Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
Hgene | PAX5 | C0006413 | Burkitt Lymphoma | 4 | ORPHANET |
Hgene | PAX5 | C1292769 | Precursor B-cell lymphoblastic leukemia | 4 | ORPHANET |
Hgene | PAX5 | C0023485 | Precursor B-Cell Lymphoblastic Leukemia-Lymphoma | 2 | CTD_human |
Hgene | PAX5 | C1961102 | Precursor Cell Lymphoblastic Leukemia Lymphoma | 2 | CGI;CTD_human;UNIPROT |
Hgene | PAX5 | C0023452 | Childhood Acute Lymphoblastic Leukemia | 1 | CTD_human |
Hgene | PAX5 | C0023453 | L2 Acute Lymphoblastic Leukemia | 1 | CTD_human |
Hgene | PAX5 | C1535926 | Neurodevelopmental Disorders | 1 | CTD_human |
Tgene | JAK2 | C0032463 | Polycythemia Vera | 12 | CTD_human;ORPHANET;UNIPROT |
Tgene | JAK2 | C0040028 | Thrombocythemia, Essential | 10 | CTD_human;ORPHANET |
Tgene | JAK2 | C0001815 | Primary Myelofibrosis | 9 | CGI;CTD_human;GENOMICS_ENGLAND;ORPHANET |
Tgene | JAK2 | C3489628 | Thrombocytosis, Autosomal Dominant | 8 | CTD_human |
Tgene | JAK2 | C0019154 | Hepatic Vein Thrombosis | 3 | CTD_human;ORPHANET |
Tgene | JAK2 | C0856761 | Budd-Chiari Syndrome | 3 | CTD_human;ORPHANET |
Tgene | JAK2 | C0009324 | Ulcerative Colitis | 2 | CTD_human |
Tgene | JAK2 | C0027022 | Myeloproliferative disease | 2 | CTD_human |
Tgene | JAK2 | C0151744 | Myocardial Ischemia | 2 | CTD_human |
Tgene | JAK2 | C0836924 | Thrombocytosis | 2 | CTD_human |
Tgene | JAK2 | C3281125 | THROMBOCYTHEMIA 3 | 2 | UNIPROT |
Tgene | JAK2 | C0000786 | Spontaneous abortion | 1 | CTD_human |
Tgene | JAK2 | C0000822 | Abortion, Tubal | 1 | CTD_human |
Tgene | JAK2 | C0006663 | Calcinosis | 1 | CTD_human |
Tgene | JAK2 | C0007873 | Uterine Cervical Neoplasm | 1 | CTD_human |
Tgene | JAK2 | C0018824 | Heart valve disease | 1 | CTD_human |
Tgene | JAK2 | C0019207 | Hepatoma, Morris | 1 | CTD_human |
Tgene | JAK2 | C0019208 | Hepatoma, Novikoff | 1 | CTD_human |
Tgene | JAK2 | C0021368 | Inflammation | 1 | CTD_human |
Tgene | JAK2 | C0023418 | leukemia | 1 | CTD_human |
Tgene | JAK2 | C0023467 | Leukemia, Myelocytic, Acute | 1 | CGI;CTD_human;UNIPROT |
Tgene | JAK2 | C0023893 | Liver Cirrhosis, Experimental | 1 | CTD_human |
Tgene | JAK2 | C0023904 | Liver Neoplasms, Experimental | 1 | CTD_human |
Tgene | JAK2 | C0025472 | Mesenteric Vascular Occlusion | 1 | CTD_human |
Tgene | JAK2 | C0026998 | Acute Myeloid Leukemia, M1 | 1 | CTD_human |
Tgene | JAK2 | C0032461 | Polycythemia | 1 | CTD_human |
Tgene | JAK2 | C0032962 | Pregnancy Complications | 1 | CTD_human |
Tgene | JAK2 | C0033578 | Prostatic Neoplasms | 1 | CTD_human |
Tgene | JAK2 | C0040038 | Thromboembolism | 1 | CTD_human |
Tgene | JAK2 | C0042487 | Venous Thrombosis | 1 | CTD_human |
Tgene | JAK2 | C0086404 | Experimental Hepatoma | 1 | CTD_human |
Tgene | JAK2 | C0149871 | Deep Vein Thrombosis | 1 | CTD_human |
Tgene | JAK2 | C0263628 | Tumoral calcinosis | 1 | CTD_human |
Tgene | JAK2 | C0376358 | Malignant neoplasm of prostate | 1 | CTD_human |
Tgene | JAK2 | C0400966 | Non-alcoholic Fatty Liver Disease | 1 | CTD_human |
Tgene | JAK2 | C0521174 | Microcalcification | 1 | CTD_human |
Tgene | JAK2 | C1527405 | Erythrocytosis | 1 | CTD_human |
Tgene | JAK2 | C1879321 | Acute Myeloid Leukemia (AML-M2) | 1 | CTD_human |
Tgene | JAK2 | C3241937 | Nonalcoholic Steatohepatitis | 1 | CTD_human |
Tgene | JAK2 | C3495676 | Anorectal Malformations | 1 | GENOMICS_ENGLAND |
Tgene | JAK2 | C3830362 | Early Pregnancy Loss | 1 | CTD_human |
Tgene | JAK2 | C4048328 | cervical cancer | 1 | CTD_human |
Tgene | JAK2 | C4303761 | Familial thrombocytosis | 1 | ORPHANET |
Tgene | JAK2 | C4552766 | Miscarriage | 1 | CTD_human |