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Fusion Protein:PHACTR1-BCL11A |
Fusion Protein Summary |
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Fusion partner gene information | Fusion gene name: PHACTR1-BCL11A | FusionPDB ID: 64675 | FusionGDB2.0 ID: 64675 | Hgene | Tgene | Gene symbol | PHACTR1 | BCL11A | Gene ID | 221692 | 53335 |
Gene name | phosphatase and actin regulator 1 | BAF chromatin remodeling complex subunit BCL11A | |
Synonyms | EIEE70|RPEL|RPEL1|dJ257A7.2 | BCL11A-L|BCL11A-S|BCL11A-XL|BCL11a-M|CTIP1|DILOS|EVI9|HBFQTL5|ZNF856 | |
Cytomap | 6p24.1 | 2p16.1 | |
Type of gene | protein-coding | protein-coding | |
Description | phosphatase and actin regulator 1RPEL repeat containing 1 | B-cell lymphoma/leukemia 11AB cell CLL/lymphoma 11AB-cell CLL/lymphoma 11A (zinc finger protein) isoform 2BCL11A B-cell CLL/lymphoma 11A (zinc finger protein) isoform 1BCL11A, BAF complex componentC2H2-type zinc finger proteinCOUP-TF-interacting pro | |
Modification date | 20200313 | 20200313 | |
UniProtAcc | . | Q9H165 | |
Ensembl transtripts involved in fusion gene | ENST ids | ENST00000332995, ENST00000379348, ENST00000379350, ENST00000379329, ENST00000379335, ENST00000379345, ENST00000457702, ENST00000482982, | ENST00000335712, ENST00000358510, ENST00000477659, ENST00000537768, ENST00000356842, ENST00000359629, ENST00000538214, |
Fusion gene scores for assessment (based on all fusion genes of FusionGDB 2.0) | * DoF score | 6 X 8 X 3=144 | 10 X 9 X 3=270 |
# samples | 8 | 9 | |
** MAII score | log2(8/144*10)=-0.84799690655495 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(9/270*10)=-1.58496250072116 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
Context (manual curation of fusion genes in FusionPDB) | PubMed: PHACTR1 [Title/Abstract] AND BCL11A [Title/Abstract] AND fusion [Title/Abstract] | ||
Most frequent breakpoint (based on all fusion genes of FusionGDB 2.0) | PHACTR1(12750022)-BCL11A(60679801), # samples:2 | ||
Anticipated loss of major functional domain due to fusion event. | PHACTR1-BCL11A 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. PHACTR1-BCL11A 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. PHACTR1-BCL11A 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. PHACTR1-BCL11A 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. PHACTR1-BCL11A seems lost the major protein functional domain in Tgene partner, which is a CGC due to the frame-shifted ORF. PHACTR1-BCL11A seems lost the major protein functional domain in Tgene partner, which is a transcription factor 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 | BCL11A | GO:0000122 | negative regulation of transcription by RNA polymerase II | 19153051 |
![]() * 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 | LUAD | TCGA-44-7670-01A | PHACTR1 | chr6 | 12750022 | - | BCL11A | chr2 | 60679801 | - |
ChimerDB4 | LUAD | TCGA-44-7670-01A | PHACTR1 | chr6 | 12750022 | + | BCL11A | chr2 | 60679801 | - |
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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) |
ENST00000379350 | PHACTR1 | chr6 | 12750022 | + | ENST00000356842 | BCL11A | chr2 | 60679801 | - | 1879 | 379 | 78 | 470 | 130 |
ENST00000379350 | PHACTR1 | chr6 | 12750022 | + | ENST00000359629 | BCL11A | chr2 | 60679801 | - | 1879 | 379 | 78 | 470 | 130 |
ENST00000379350 | PHACTR1 | chr6 | 12750022 | + | ENST00000538214 | BCL11A | chr2 | 60679801 | - | 624 | 379 | 78 | 470 | 130 |
ENST00000379348 | PHACTR1 | chr6 | 12750022 | + | ENST00000356842 | BCL11A | chr2 | 60679801 | - | 1927 | 427 | 72 | 518 | 148 |
ENST00000379348 | PHACTR1 | chr6 | 12750022 | + | ENST00000359629 | BCL11A | chr2 | 60679801 | - | 1927 | 427 | 72 | 518 | 148 |
ENST00000379348 | PHACTR1 | chr6 | 12750022 | + | ENST00000538214 | BCL11A | chr2 | 60679801 | - | 672 | 427 | 72 | 518 | 148 |
ENST00000332995 | PHACTR1 | chr6 | 12750022 | + | ENST00000356842 | BCL11A | chr2 | 60679801 | - | 1750 | 250 | 0 | 341 | 113 |
ENST00000332995 | PHACTR1 | chr6 | 12750022 | + | ENST00000359629 | BCL11A | chr2 | 60679801 | - | 1750 | 250 | 0 | 341 | 113 |
ENST00000332995 | PHACTR1 | chr6 | 12750022 | + | ENST00000538214 | BCL11A | chr2 | 60679801 | - | 495 | 250 | 0 | 341 | 113 |
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Henst | Tenst | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand | No-coding score | Coding score |
ENST00000379350 | ENST00000356842 | PHACTR1 | chr6 | 12750022 | + | BCL11A | chr2 | 60679801 | - | 0.14398749 | 0.8560125 |
ENST00000379350 | ENST00000359629 | PHACTR1 | chr6 | 12750022 | + | BCL11A | chr2 | 60679801 | - | 0.14398749 | 0.8560125 |
ENST00000379350 | ENST00000538214 | PHACTR1 | chr6 | 12750022 | + | BCL11A | chr2 | 60679801 | - | 0.03546012 | 0.9645399 |
ENST00000379348 | ENST00000356842 | PHACTR1 | chr6 | 12750022 | + | BCL11A | chr2 | 60679801 | - | 0.119814135 | 0.8801859 |
ENST00000379348 | ENST00000359629 | PHACTR1 | chr6 | 12750022 | + | BCL11A | chr2 | 60679801 | - | 0.119814135 | 0.8801859 |
ENST00000379348 | ENST00000538214 | PHACTR1 | chr6 | 12750022 | + | BCL11A | chr2 | 60679801 | - | 0.04823313 | 0.9517669 |
ENST00000332995 | ENST00000356842 | PHACTR1 | chr6 | 12750022 | + | BCL11A | chr2 | 60679801 | - | 0.07375828 | 0.9262417 |
ENST00000332995 | ENST00000359629 | PHACTR1 | chr6 | 12750022 | + | BCL11A | chr2 | 60679801 | - | 0.07375828 | 0.9262417 |
ENST00000332995 | ENST00000538214 | PHACTR1 | chr6 | 12750022 | + | BCL11A | chr2 | 60679801 | - | 0.040710513 | 0.95928955 |
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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 >64675_64675_1_PHACTR1-BCL11A_PHACTR1_chr6_12750022_ENST00000332995_BCL11A_chr2_60679801_ENST00000356842_length(amino acids)=113AA_BP=79 MDYPKMDYFLDVESAHRLLDVESAQRFFYSQGAQARRATLLLPPTLMAASSEDDIDRRPIRRVRSKSDTPYLAEARISFNLGAGSSHTPI -------------------------------------------------------------- >64675_64675_2_PHACTR1-BCL11A_PHACTR1_chr6_12750022_ENST00000332995_BCL11A_chr2_60679801_ENST00000359629_length(amino acids)=113AA_BP=79 MDYPKMDYFLDVESAHRLLDVESAQRFFYSQGAQARRATLLLPPTLMAASSEDDIDRRPIRRVRSKSDTPYLAEARISFNLGAGSSHTPI -------------------------------------------------------------- >64675_64675_3_PHACTR1-BCL11A_PHACTR1_chr6_12750022_ENST00000332995_BCL11A_chr2_60679801_ENST00000538214_length(amino acids)=113AA_BP=79 MDYPKMDYFLDVESAHRLLDVESAQRFFYSQGAQARRATLLLPPTLMAASSEDDIDRRPIRRVRSKSDTPYLAEARISFNLGAGSSHTPI -------------------------------------------------------------- >64675_64675_4_PHACTR1-BCL11A_PHACTR1_chr6_12750022_ENST00000379348_BCL11A_chr2_60679801_ENST00000356842_length(amino acids)=148AA_BP=114 MIACEFNSICSREYKARKGWCSSVFSQNSVFGTSRMDYPKMDYFLDVESAHRLLDVESAQRFFYSQGAQARRATLLLPPTLMAASSEDDI -------------------------------------------------------------- >64675_64675_5_PHACTR1-BCL11A_PHACTR1_chr6_12750022_ENST00000379348_BCL11A_chr2_60679801_ENST00000359629_length(amino acids)=148AA_BP=114 MIACEFNSICSREYKARKGWCSSVFSQNSVFGTSRMDYPKMDYFLDVESAHRLLDVESAQRFFYSQGAQARRATLLLPPTLMAASSEDDI -------------------------------------------------------------- >64675_64675_6_PHACTR1-BCL11A_PHACTR1_chr6_12750022_ENST00000379348_BCL11A_chr2_60679801_ENST00000538214_length(amino acids)=148AA_BP=114 MIACEFNSICSREYKARKGWCSSVFSQNSVFGTSRMDYPKMDYFLDVESAHRLLDVESAQRFFYSQGAQARRATLLLPPTLMAASSEDDI -------------------------------------------------------------- >64675_64675_7_PHACTR1-BCL11A_PHACTR1_chr6_12750022_ENST00000379350_BCL11A_chr2_60679801_ENST00000356842_length(amino acids)=130AA_BP=96 MQCSSVFSQNSVFGTSRMDYPKMDYFLDVESAHRLLDVESAQRFFYSQGAQARRATLLLPPTLMAASSEDDIDRRPIRRVRSKSDTPYLA -------------------------------------------------------------- >64675_64675_8_PHACTR1-BCL11A_PHACTR1_chr6_12750022_ENST00000379350_BCL11A_chr2_60679801_ENST00000359629_length(amino acids)=130AA_BP=96 MQCSSVFSQNSVFGTSRMDYPKMDYFLDVESAHRLLDVESAQRFFYSQGAQARRATLLLPPTLMAASSEDDIDRRPIRRVRSKSDTPYLA -------------------------------------------------------------- >64675_64675_9_PHACTR1-BCL11A_PHACTR1_chr6_12750022_ENST00000379350_BCL11A_chr2_60679801_ENST00000538214_length(amino acids)=130AA_BP=96 MQCSSVFSQNSVFGTSRMDYPKMDYFLDVESAHRLLDVESAQRFFYSQGAQARRATLLLPPTLMAASSEDDIDRRPIRRVRSKSDTPYLA -------------------------------------------------------------- |
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Fusion Protein Functional Features |
![]() Go to FGviewer search page for the most frequent breakpoint (https://ccsmweb.uth.edu/FGviewer/chr6:12750022/chr2:60679801) - 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 |
. | BCL11A |
FUNCTION: Might normally function as a transcriptional repressor. EWS-fusion-proteins (EFPS) may play a role in the tumorigenic process. They may disturb gene expression by mimicking, or interfering with the normal function of CTD-POLII within the transcription initiation complex. They may also contribute to an aberrant activation of the fusion protein target genes. | FUNCTION: Transcription factor associated with the BAF SWI/SNF chromatin remodeling complex (By similarity). Repressor of fetal hemoglobin (HbF) level (PubMed:26375765). Involved in brain development (PubMed:27453576). May play a role in hematopoiesis. Essential factor in lymphopoiesis required for B-cell formation in fetal liver. May function as a modulator of the transcriptional repression activity of ARP1 (By similarity). {ECO:0000250|UniProtKB:Q9QYE3, ECO:0000303|PubMed:26375765, ECO:0000303|PubMed:27453576}. |
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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 |
Tgene | BCL11A | chr6:12750022 | chr2:60679801 | ENST00000335712 | 0 | 4 | 260_373 | 0 | 836.0 | Compositional bias | Note=Pro-rich | |
Tgene | BCL11A | chr6:12750022 | chr2:60679801 | ENST00000335712 | 0 | 4 | 481_509 | 0 | 836.0 | Compositional bias | Note=Glu-rich | |
Tgene | BCL11A | chr6:12750022 | chr2:60679801 | ENST00000358510 | 0 | 3 | 260_373 | 0 | 802.0 | Compositional bias | Note=Pro-rich | |
Tgene | BCL11A | chr6:12750022 | chr2:60679801 | ENST00000358510 | 0 | 3 | 481_509 | 0 | 802.0 | Compositional bias | Note=Glu-rich | |
Tgene | BCL11A | chr6:12750022 | chr2:60679801 | ENST00000359629 | 3 | 5 | 260_373 | 210.0 | 244.0 | Compositional bias | Note=Pro-rich | |
Tgene | BCL11A | chr6:12750022 | chr2:60679801 | ENST00000359629 | 3 | 5 | 481_509 | 210.0 | 244.0 | Compositional bias | Note=Glu-rich | |
Tgene | BCL11A | chr6:12750022 | chr2:60679801 | ENST00000335712 | 0 | 4 | 1_210 | 0 | 836.0 | Region | Required for nuclear body formation and for SUMO1 recruitment | |
Tgene | BCL11A | chr6:12750022 | chr2:60679801 | ENST00000358510 | 0 | 3 | 1_210 | 0 | 802.0 | Region | Required for nuclear body formation and for SUMO1 recruitment | |
Tgene | BCL11A | chr6:12750022 | chr2:60679801 | ENST00000335712 | 0 | 4 | 170_193 | 0 | 836.0 | Zinc finger | C2H2-type 1 | |
Tgene | BCL11A | chr6:12750022 | chr2:60679801 | ENST00000335712 | 0 | 4 | 377_399 | 0 | 836.0 | Zinc finger | C2H2-type 2 | |
Tgene | BCL11A | chr6:12750022 | chr2:60679801 | ENST00000335712 | 0 | 4 | 405_429 | 0 | 836.0 | Zinc finger | C2H2-type 3 | |
Tgene | BCL11A | chr6:12750022 | chr2:60679801 | ENST00000335712 | 0 | 4 | 742_764 | 0 | 836.0 | Zinc finger | C2H2-type 4 | |
Tgene | BCL11A | chr6:12750022 | chr2:60679801 | ENST00000335712 | 0 | 4 | 770_792 | 0 | 836.0 | Zinc finger | C2H2-type 5 | |
Tgene | BCL11A | chr6:12750022 | chr2:60679801 | ENST00000335712 | 0 | 4 | 800_823 | 0 | 836.0 | Zinc finger | C2H2-type 6 | |
Tgene | BCL11A | chr6:12750022 | chr2:60679801 | ENST00000356842 | 3 | 5 | 742_764 | 743.3333333333334 | 774.0 | Zinc finger | C2H2-type 4 | |
Tgene | BCL11A | chr6:12750022 | chr2:60679801 | ENST00000356842 | 3 | 5 | 770_792 | 743.3333333333334 | 774.0 | Zinc finger | C2H2-type 5 | |
Tgene | BCL11A | chr6:12750022 | chr2:60679801 | ENST00000356842 | 3 | 5 | 800_823 | 743.3333333333334 | 774.0 | Zinc finger | C2H2-type 6 | |
Tgene | BCL11A | chr6:12750022 | chr2:60679801 | ENST00000358510 | 0 | 3 | 170_193 | 0 | 802.0 | Zinc finger | C2H2-type 1 | |
Tgene | BCL11A | chr6:12750022 | chr2:60679801 | ENST00000358510 | 0 | 3 | 377_399 | 0 | 802.0 | Zinc finger | C2H2-type 2 | |
Tgene | BCL11A | chr6:12750022 | chr2:60679801 | ENST00000358510 | 0 | 3 | 405_429 | 0 | 802.0 | Zinc finger | C2H2-type 3 | |
Tgene | BCL11A | chr6:12750022 | chr2:60679801 | ENST00000358510 | 0 | 3 | 742_764 | 0 | 802.0 | Zinc finger | C2H2-type 4 | |
Tgene | BCL11A | chr6:12750022 | chr2:60679801 | ENST00000358510 | 0 | 3 | 770_792 | 0 | 802.0 | Zinc finger | C2H2-type 5 | |
Tgene | BCL11A | chr6:12750022 | chr2:60679801 | ENST00000358510 | 0 | 3 | 800_823 | 0 | 802.0 | Zinc finger | C2H2-type 6 | |
Tgene | BCL11A | chr6:12750022 | chr2:60679801 | ENST00000359629 | 3 | 5 | 377_399 | 210.0 | 244.0 | Zinc finger | C2H2-type 2 | |
Tgene | BCL11A | chr6:12750022 | chr2:60679801 | ENST00000359629 | 3 | 5 | 405_429 | 210.0 | 244.0 | Zinc finger | C2H2-type 3 | |
Tgene | BCL11A | chr6:12750022 | chr2:60679801 | ENST00000359629 | 3 | 5 | 742_764 | 210.0 | 244.0 | Zinc finger | C2H2-type 4 | |
Tgene | BCL11A | chr6:12750022 | chr2:60679801 | ENST00000359629 | 3 | 5 | 770_792 | 210.0 | 244.0 | Zinc finger | C2H2-type 5 | |
Tgene | BCL11A | chr6:12750022 | chr2:60679801 | ENST00000359629 | 3 | 5 | 800_823 | 210.0 | 244.0 | Zinc finger | C2H2-type 6 |
- 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 | PHACTR1 | chr6:12750022 | chr2:60679801 | ENST00000379350 | + | 3 | 10 | 108_129 | 83.33333333333333 | 485.0 | Motif | Nuclear localization signal |
Hgene | PHACTR1 | chr6:12750022 | chr2:60679801 | ENST00000379350 | + | 3 | 10 | 138_163 | 83.33333333333333 | 485.0 | Repeat | Note=RPEL 1 |
Hgene | PHACTR1 | chr6:12750022 | chr2:60679801 | ENST00000379350 | + | 3 | 10 | 422_447 | 83.33333333333333 | 485.0 | Repeat | Note=RPEL 2 |
Hgene | PHACTR1 | chr6:12750022 | chr2:60679801 | ENST00000379350 | + | 3 | 10 | 460_484 | 83.33333333333333 | 485.0 | Repeat | Note=RPEL 3 |
Hgene | PHACTR1 | chr6:12750022 | chr2:60679801 | ENST00000379350 | + | 3 | 10 | 498_523 | 83.33333333333333 | 485.0 | Repeat | Note=RPEL 4 |
Tgene | BCL11A | chr6:12750022 | chr2:60679801 | ENST00000356842 | 3 | 5 | 260_373 | 743.3333333333334 | 774.0 | Compositional bias | Note=Pro-rich | |
Tgene | BCL11A | chr6:12750022 | chr2:60679801 | ENST00000356842 | 3 | 5 | 481_509 | 743.3333333333334 | 774.0 | Compositional bias | Note=Glu-rich | |
Tgene | BCL11A | chr6:12750022 | chr2:60679801 | ENST00000356842 | 3 | 5 | 1_210 | 743.3333333333334 | 774.0 | Region | Required for nuclear body formation and for SUMO1 recruitment | |
Tgene | BCL11A | chr6:12750022 | chr2:60679801 | ENST00000359629 | 3 | 5 | 1_210 | 210.0 | 244.0 | Region | Required for nuclear body formation and for SUMO1 recruitment | |
Tgene | BCL11A | chr6:12750022 | chr2:60679801 | ENST00000356842 | 3 | 5 | 170_193 | 743.3333333333334 | 774.0 | Zinc finger | C2H2-type 1 | |
Tgene | BCL11A | chr6:12750022 | chr2:60679801 | ENST00000356842 | 3 | 5 | 377_399 | 743.3333333333334 | 774.0 | Zinc finger | C2H2-type 2 | |
Tgene | BCL11A | chr6:12750022 | chr2:60679801 | ENST00000356842 | 3 | 5 | 405_429 | 743.3333333333334 | 774.0 | Zinc finger | C2H2-type 3 | |
Tgene | BCL11A | chr6:12750022 | chr2:60679801 | ENST00000359629 | 3 | 5 | 170_193 | 210.0 | 244.0 | Zinc finger | C2H2-type 1 |
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Fusion Protein-Protein Interaction |
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Gene | PPI interactors |
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Gene | STRING network |
PHACTR1 | |
BCL11A |
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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 PHACTR1-BCL11A |
![]() (Manual curation of PubMed, 04-30-2022 + MyCancerGenome) |
Hgene | Tgene | Drug | Source | PMID |
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Related Diseases to PHACTR1-BCL11A |
![]() (Manual curation of PubMed, 04-30-2022 + MyCancerGenome) |
Hgene | Tgene | Disease | Source | PMID |
![]() (DisGeNet 4.0) |
Partner | Gene | Disease ID | Disease name | # pubmeds | Source |