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![]() | Fusion Gene Summary |
![]() | Fusion Gene ORF analysis |
![]() | Fusion Genomic Features |
![]() | Fusion Protein Features |
![]() | Fusion Gene Sequence |
![]() | Fusion Gene PPI analysis |
![]() | Related Drugs |
![]() | Related Diseases |
Fusion gene:BCL11A-PTPLA (FusionGDB2 ID:HG53335TG9200) |
Fusion Gene Summary for BCL11A-PTPLA |
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Fusion gene information | Fusion gene name: BCL11A-PTPLA | Fusion gene ID: hg53335tg9200 | Hgene | Tgene | Gene symbol | BCL11A | PTPLA | Gene ID | 53335 | 9200 |
Gene name | BAF chromatin remodeling complex subunit BCL11A | 3-hydroxyacyl-CoA dehydratase 1 | |
Synonyms | BCL11A-L|BCL11A-S|BCL11A-XL|BCL11a-M|CTIP1|DILOS|EVI9|HBFQTL5|ZNF856 | CAP|PTPLA | |
Cytomap | ('BCL11A','BCL11A')('HACD1','PTPLA') 2p16.1 | 10p12.33 | |
Type of gene | protein-coding | protein-coding | |
Description | 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 | very-long-chain (3R)-3-hydroxyacyl-CoA dehydratase 1cementum attachment proteinprotein tyrosine phosphatase-like (proline instead of catalytic arginine), member Avery-long-chain (3R)-3-hydroxyacyl-[acyl-carrier protein] dehydratase 1 | |
Modification date | 20200313 | 20200313 | |
UniProtAcc | . | . | |
Ensembl transtripts involved in fusion gene | ENST00000335712, ENST00000356842, ENST00000358510, ENST00000359629, ENST00000538214, ENST00000537768, ENST00000477659, | ||
Fusion gene scores | * DoF score | 4 X 5 X 2=40 | 3 X 2 X 3=18 |
# samples | 4 | 3 | |
** MAII score | log2(4/40*10)=0 | log2(3/18*10)=0.736965594166206 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0 | |
Context | PubMed: BCL11A [Title/Abstract] AND PTPLA [Title/Abstract] AND fusion [Title/Abstract] | ||
Most frequent breakpoint | BCL11A(60773106)-HACD1(17646046), # samples:1 BCL11A(60773105)-PTPLA(17646046), # samples:2 BCL11A(60773106)-PTPLA(17646046), # samples:2 | ||
Anticipated loss of major functional domain due to fusion event. | BCL11A-PTPLA seems lost the major protein functional domain in Hgene partner, which is a CGC due to the frame-shifted ORF. BCL11A-PTPLA seems lost the major protein functional domain in Hgene 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 |
Hgene | BCL11A | GO:0000122 | negative regulation of transcription by RNA polymerase II | 19153051 |
![]() * 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 | ESCA | TCGA-IG-A8O2-01A | BCL11A | chr2 | 60773106 | - | HACD1 | chr10 | 17646046 | - |
ChimerDB4 | ESCA | TCGA-IG-A8O2-01A | BCL11A | chr2 | 60773106 | - | PTPLA | chr10 | 17646046 | - |
ChimerDB4 | ESCA | TCGA-IG-A8O2 | BCL11A | chr2 | 60773105 | - | PTPLA | chr10 | 17646046 | - |
ChimerDB4 | ESCA | TCGA-IG-A8O2 | BCL11A | chr2 | 60773106 | - | PTPLA | chr10 | 17646046 | - |
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Fusion Gene ORF analysis for BCL11A-PTPLA |
![]() * 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 |
5CDS-intron | ENST00000335712 | ENST00000326961 | BCL11A | chr2 | 60773105 | - | PTPLA | chr10 | 17646046 | - |
5CDS-intron | ENST00000335712 | ENST00000326961 | BCL11A | chr2 | 60773106 | - | PTPLA | chr10 | 17646046 | - |
5CDS-intron | ENST00000356842 | ENST00000326961 | BCL11A | chr2 | 60773105 | - | PTPLA | chr10 | 17646046 | - |
5CDS-intron | ENST00000356842 | ENST00000326961 | BCL11A | chr2 | 60773106 | - | PTPLA | chr10 | 17646046 | - |
5CDS-intron | ENST00000358510 | ENST00000326961 | BCL11A | chr2 | 60773105 | - | PTPLA | chr10 | 17646046 | - |
5CDS-intron | ENST00000358510 | ENST00000326961 | BCL11A | chr2 | 60773106 | - | PTPLA | chr10 | 17646046 | - |
5CDS-intron | ENST00000359629 | ENST00000326961 | BCL11A | chr2 | 60773105 | - | PTPLA | chr10 | 17646046 | - |
5CDS-intron | ENST00000359629 | ENST00000326961 | BCL11A | chr2 | 60773106 | - | PTPLA | chr10 | 17646046 | - |
5CDS-intron | ENST00000538214 | ENST00000326961 | BCL11A | chr2 | 60773105 | - | PTPLA | chr10 | 17646046 | - |
5CDS-intron | ENST00000538214 | ENST00000326961 | BCL11A | chr2 | 60773106 | - | PTPLA | chr10 | 17646046 | - |
5UTR-3CDS | ENST00000537768 | ENST00000361271 | BCL11A | chr2 | 60773105 | - | PTPLA | chr10 | 17646046 | - |
5UTR-3CDS | ENST00000537768 | ENST00000361271 | BCL11A | chr2 | 60773106 | - | PTPLA | chr10 | 17646046 | - |
5UTR-intron | ENST00000537768 | ENST00000326961 | BCL11A | chr2 | 60773105 | - | PTPLA | chr10 | 17646046 | - |
5UTR-intron | ENST00000537768 | ENST00000326961 | BCL11A | chr2 | 60773106 | - | PTPLA | chr10 | 17646046 | - |
Frame-shift | ENST00000335712 | ENST00000361271 | BCL11A | chr2 | 60773105 | - | PTPLA | chr10 | 17646046 | - |
Frame-shift | ENST00000335712 | ENST00000361271 | BCL11A | chr2 | 60773106 | - | PTPLA | chr10 | 17646046 | - |
Frame-shift | ENST00000356842 | ENST00000361271 | BCL11A | chr2 | 60773105 | - | PTPLA | chr10 | 17646046 | - |
Frame-shift | ENST00000356842 | ENST00000361271 | BCL11A | chr2 | 60773106 | - | PTPLA | chr10 | 17646046 | - |
Frame-shift | ENST00000358510 | ENST00000361271 | BCL11A | chr2 | 60773105 | - | PTPLA | chr10 | 17646046 | - |
Frame-shift | ENST00000358510 | ENST00000361271 | BCL11A | chr2 | 60773106 | - | PTPLA | chr10 | 17646046 | - |
Frame-shift | ENST00000359629 | ENST00000361271 | BCL11A | chr2 | 60773105 | - | PTPLA | chr10 | 17646046 | - |
Frame-shift | ENST00000359629 | ENST00000361271 | BCL11A | chr2 | 60773106 | - | PTPLA | chr10 | 17646046 | - |
Frame-shift | ENST00000538214 | ENST00000361271 | BCL11A | chr2 | 60773105 | - | PTPLA | chr10 | 17646046 | - |
Frame-shift | ENST00000538214 | ENST00000361271 | BCL11A | chr2 | 60773106 | - | PTPLA | chr10 | 17646046 | - |
intron-3CDS | ENST00000477659 | ENST00000361271 | BCL11A | chr2 | 60773105 | - | PTPLA | chr10 | 17646046 | - |
intron-3CDS | ENST00000477659 | ENST00000361271 | BCL11A | chr2 | 60773106 | - | PTPLA | chr10 | 17646046 | - |
intron-intron | ENST00000477659 | ENST00000326961 | BCL11A | chr2 | 60773105 | - | PTPLA | chr10 | 17646046 | - |
intron-intron | ENST00000477659 | ENST00000326961 | BCL11A | chr2 | 60773106 | - | PTPLA | chr10 | 17646046 | - |
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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) |
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Henst | Tenst | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand | No-coding score | Coding score |
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Fusion Genomic Features for BCL11A-PTPLA |
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Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand | 1-p | p (fusion gene breakpoint) |
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Fusion Protein Features for BCL11A-PTPLA |
![]() Go to FGviewer search page for the most frequent breakpoint (https://ccsmweb.uth.edu/FGviewer/:60773106/:17646046) - 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 |
. | . |
FUNCTION: Transcriptional activator which is required for calcium-dependent dendritic growth and branching in cortical neurons. Recruits CREB-binding protein (CREBBP) to nuclear bodies. Component of the CREST-BRG1 complex, a multiprotein complex that regulates promoter activation by orchestrating a calcium-dependent release of a repressor complex and a recruitment of an activator complex. In resting neurons, transcription of the c-FOS promoter is inhibited by BRG1-dependent recruitment of a phospho-RB1-HDAC1 repressor complex. Upon calcium influx, RB1 is dephosphorylated by calcineurin, which leads to release of the repressor complex. At the same time, there is increased recruitment of CREBBP to the promoter by a CREST-dependent mechanism, which leads to transcriptional activation. The CREST-BRG1 complex also binds to the NR2B promoter, and activity-dependent induction of NR2B expression involves a release of HDAC1 and recruitment of CREBBP (By similarity). {ECO:0000250}. | FUNCTION: Transcriptional activator which is required for calcium-dependent dendritic growth and branching in cortical neurons. Recruits CREB-binding protein (CREBBP) to nuclear bodies. Component of the CREST-BRG1 complex, a multiprotein complex that regulates promoter activation by orchestrating a calcium-dependent release of a repressor complex and a recruitment of an activator complex. In resting neurons, transcription of the c-FOS promoter is inhibited by BRG1-dependent recruitment of a phospho-RB1-HDAC1 repressor complex. Upon calcium influx, RB1 is dephosphorylated by calcineurin, which leads to release of the repressor complex. At the same time, there is increased recruitment of CREBBP to the promoter by a CREST-dependent mechanism, which leads to transcriptional activation. The CREST-BRG1 complex also binds to the NR2B promoter, and activity-dependent induction of NR2B expression involves a release of HDAC1 and recruitment of CREBBP (By similarity). {ECO:0000250}. |
![]() * 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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Fusion Gene Sequence for BCL11A-PTPLA |
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Fusion Gene PPI Analysis for BCL11A-PTPLA |
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Hgene | Hgene's interactors | Tgene | Tgene's interactors |
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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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Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
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Related Drugs for BCL11A-PTPLA |
![]() (DrugBank Version 5.1.8 2021-05-08) |
Partner | Gene | UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
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Related Diseases for BCL11A-PTPLA |
![]() (DisGeNet 4.0) |
Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
Hgene | BCL11A | C4310833 | INTELLECTUAL DEVELOPMENTAL DISORDER WITH PERSISTENCE OF FETAL HEMOGLOBIN | 2 | CTD_human;UNIPROT |
Hgene | BCL11A | C0003635 | Apraxias | 1 | CTD_human |
Hgene | BCL11A | C0010606 | Adenoid Cystic Carcinoma | 1 | CTD_human |
Hgene | BCL11A | C0023012 | Language Delay | 1 | CTD_human |
Hgene | BCL11A | C0023014 | Language Development Disorders | 1 | CTD_human |
Hgene | BCL11A | C0032460 | Polycystic Ovary Syndrome | 1 | CTD_human |
Hgene | BCL11A | C0036095 | Salivary Gland Neoplasms | 1 | CTD_human |
Hgene | BCL11A | C0036341 | Schizophrenia | 1 | PSYGENET |
Hgene | BCL11A | C0220636 | Malignant neoplasm of salivary gland | 1 | CTD_human |
Hgene | BCL11A | C0234526 | Ideational Apraxia | 1 | CTD_human |
Hgene | BCL11A | C0234527 | Apraxia, Motor | 1 | CTD_human |
Hgene | BCL11A | C0234529 | Dressing Apraxia | 1 | CTD_human |
Hgene | BCL11A | C0241210 | Speech Delay | 1 | CTD_human |
Hgene | BCL11A | C0264611 | Apraxia of Phonation | 1 | CTD_human |
Hgene | BCL11A | C0349391 | Apraxia, Verbal | 1 | CTD_human |
Hgene | BCL11A | C0422892 | Apraxia, Gestural | 1 | CTD_human |
Hgene | BCL11A | C0454608 | Apraxia, Oral | 1 | CTD_human |
Hgene | BCL11A | C0454655 | Semantic-Pragmatic Disorder | 1 | CTD_human |
Hgene | BCL11A | C0750927 | Apraxia, Developmental Verbal | 1 | CTD_human |
Hgene | BCL11A | C0750928 | Apraxia, Facial-Oral | 1 | CTD_human |
Hgene | BCL11A | C0751257 | Auditory Processing Disorder, Central | 1 | CTD_human |
Hgene | BCL11A | C1136382 | Sclerocystic Ovaries | 1 | CTD_human |
Hgene | BCL11A | C3495144 | Apraxia, Articulatory | 1 | CTD_human |
Hgene | BCL11A | C3714756 | Intellectual Disability | 1 | GENOMICS_ENGLAND |
Tgene | C0032460 | Polycystic Ovary Syndrome | 1 | CTD_human | |
Tgene | C0270960 | Congenital myopathy (disorder) | 1 | GENOMICS_ENGLAND | |
Tgene | C0546264 | Congenital Fiber Type Disproportion | 1 | ORPHANET | |
Tgene | C1136382 | Sclerocystic Ovaries | 1 | CTD_human |