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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:BRD4-MFSD12 (FusionGDB2 ID:10256) |
Fusion Gene Summary for BRD4-MFSD12 |
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Fusion gene information | Fusion gene name: BRD4-MFSD12 | Fusion gene ID: 10256 | Hgene | Tgene | Gene symbol | BRD4 | MFSD12 | Gene ID | 23476 | 126321 |
Gene name | bromodomain containing 4 | major facilitator superfamily domain containing 12 | |
Synonyms | CAP|HUNK1|HUNKI|MCAP | C19orf28|PP3501 | |
Cytomap | 19p13.12 | 19p13.3 | |
Type of gene | protein-coding | protein-coding | |
Description | bromodomain-containing protein 4chromosome-associated proteinmitotic chromosome-associated protein | major facilitator superfamily domain-containing protein 12 | |
Modification date | 20200329 | 20200313 | |
UniProtAcc | O60885 | Q6NUT3 | |
Ensembl transtripts involved in fusion gene | ENST00000263377, ENST00000371835, ENST00000360016, ENST00000602230, | ENST00000389395, ENST00000398558, ENST00000355415, ENST00000591878, | |
Fusion gene scores | * DoF score | 20 X 15 X 13=3900 | 8 X 8 X 3=192 |
# samples | 28 | 6 | |
** MAII score | log2(28/3900*10)=-3.79997539169201 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(6/192*10)=-1.67807190511264 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
Context | PubMed: BRD4 [Title/Abstract] AND MFSD12 [Title/Abstract] AND fusion [Title/Abstract] | ||
Most frequent breakpoint | BRD4(15443101)-MFSD12(3538754), # samples:1 | ||
Anticipated loss of major functional domain due to fusion event. |
* 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 | BRD4 | GO:0032968 | positive regulation of transcription elongation from RNA polymerase II promoter | 19103749|23086925 |
Hgene | BRD4 | GO:0043123 | positive regulation of I-kappaB kinase/NF-kappaB signaling | 19103749 |
Hgene | BRD4 | GO:0045944 | positive regulation of transcription by RNA polymerase II | 23086925|23317504|24360279 |
Hgene | BRD4 | GO:0050727 | regulation of inflammatory response | 19103749 |
Hgene | BRD4 | GO:1901407 | regulation of phosphorylation of RNA polymerase II C-terminal domain | 23086925 |
![]() * Click on the image to open the UCSC genome browser with custom track showing this image in a new window. |
![]() * Click on the image to open the UCSC genome browser with custom track showing this image in a new window. |
![]() * 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 | STAD | TCGA-BR-7901-01A | BRD4 | chr19 | 15443101 | - | MFSD12 | chr19 | 3538754 | - |
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Fusion Gene ORF analysis for BRD4-MFSD12 |
![]() * 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 | ENST00000263377 | ENST00000389395 | BRD4 | chr19 | 15443101 | - | MFSD12 | chr19 | 3538754 | - |
intron-3UTR | ENST00000263377 | ENST00000398558 | BRD4 | chr19 | 15443101 | - | MFSD12 | chr19 | 3538754 | - |
intron-intron | ENST00000263377 | ENST00000355415 | BRD4 | chr19 | 15443101 | - | MFSD12 | chr19 | 3538754 | - |
intron-intron | ENST00000263377 | ENST00000591878 | BRD4 | chr19 | 15443101 | - | MFSD12 | chr19 | 3538754 | - |
intron-3CDS | ENST00000371835 | ENST00000389395 | BRD4 | chr19 | 15443101 | - | MFSD12 | chr19 | 3538754 | - |
intron-3UTR | ENST00000371835 | ENST00000398558 | BRD4 | chr19 | 15443101 | - | MFSD12 | chr19 | 3538754 | - |
intron-intron | ENST00000371835 | ENST00000355415 | BRD4 | chr19 | 15443101 | - | MFSD12 | chr19 | 3538754 | - |
intron-intron | ENST00000371835 | ENST00000591878 | BRD4 | chr19 | 15443101 | - | MFSD12 | chr19 | 3538754 | - |
5UTR-3CDS | ENST00000360016 | ENST00000389395 | BRD4 | chr19 | 15443101 | - | MFSD12 | chr19 | 3538754 | - |
5UTR-3UTR | ENST00000360016 | ENST00000398558 | BRD4 | chr19 | 15443101 | - | MFSD12 | chr19 | 3538754 | - |
5UTR-intron | ENST00000360016 | ENST00000355415 | BRD4 | chr19 | 15443101 | - | MFSD12 | chr19 | 3538754 | - |
5UTR-intron | ENST00000360016 | ENST00000591878 | BRD4 | chr19 | 15443101 | - | MFSD12 | chr19 | 3538754 | - |
intron-3CDS | ENST00000602230 | ENST00000389395 | BRD4 | chr19 | 15443101 | - | MFSD12 | chr19 | 3538754 | - |
intron-3UTR | ENST00000602230 | ENST00000398558 | BRD4 | chr19 | 15443101 | - | MFSD12 | chr19 | 3538754 | - |
intron-intron | ENST00000602230 | ENST00000355415 | BRD4 | chr19 | 15443101 | - | MFSD12 | chr19 | 3538754 | - |
intron-intron | ENST00000602230 | ENST00000591878 | BRD4 | chr19 | 15443101 | - | MFSD12 | chr19 | 3538754 | - |
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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 BRD4-MFSD12 |
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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 BRD4-MFSD12 |
![]() FGviewer for the breakpoints of :-: - FGviewer provides the online visualization of the retention search of the protein functional features across DNA, RNA, protein, and pathological levels. |
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Hgene | Tgene |
BRD4 | MFSD12 |
FUNCTION: Chromatin reader protein that recognizes and binds acetylated histones and plays a key role in transmission of epigenetic memory across cell divisions and transcription regulation. Remains associated with acetylated chromatin throughout the entire cell cycle and provides epigenetic memory for postmitotic G1 gene transcription by preserving acetylated chromatin status and maintaining high-order chromatin structure (PubMed:23589332, PubMed:23317504, PubMed:22334664). During interphase, plays a key role in regulating the transcription of signal-inducible genes by associating with the P-TEFb complex and recruiting it to promoters. Also recruits P-TEFb complex to distal enhancers, so called anti-pause enhancers in collaboration with JMJD6. BRD4 and JMJD6 are required to form the transcriptionally active P-TEFb complex by displacing negative regulators such as HEXIM1 and 7SKsnRNA complex from P-TEFb, thereby transforming it into an active form that can then phosphorylate the C-terminal domain (CTD) of RNA polymerase II (PubMed:23589332, PubMed:19596240, PubMed:16109377, PubMed:16109376, PubMed:24360279). Promotes phosphorylation of 'Ser-2' of the C-terminal domain (CTD) of RNA polymerase II (PubMed:23086925). According to a report, directly acts as an atypical protein kinase and mediates phosphorylation of 'Ser-2' of the C-terminal domain (CTD) of RNA polymerase II; these data however need additional evidences in vivo (PubMed:22509028). In addition to acetylated histones, also recognizes and binds acetylated RELA, leading to further recruitment of the P-TEFb complex and subsequent activation of NF-kappa-B (PubMed:19103749). Also acts as a regulator of p53/TP53-mediated transcription: following phosphorylation by CK2, recruited to p53/TP53 specific target promoters (PubMed:23317504). {ECO:0000269|PubMed:16109376, ECO:0000269|PubMed:16109377, ECO:0000269|PubMed:19103749, ECO:0000269|PubMed:19596240, ECO:0000269|PubMed:22334664, ECO:0000269|PubMed:22509028, ECO:0000269|PubMed:23086925, ECO:0000269|PubMed:23317504, ECO:0000269|PubMed:23589332, ECO:0000269|PubMed:24360279}.; FUNCTION: [Isoform B]: Acts as a chromatin insulator in the DNA damage response pathway. Inhibits DNA damage response signaling by recruiting the condensin-2 complex to acetylated histones, leading to chromatin structure remodeling, insulating the region from DNA damage response by limiting spreading of histone H2AX/H2A.x phosphorylation. {ECO:0000269|PubMed:23728299}. | FUNCTION: Transporter that mediates the import of cysteine into melanosomes, thereby regulating skin pigmentation (PubMed:33208952). In melanosomes, cysteine import is required both for normal levels of cystine, the oxidized dimer of cysteine, and provide cysteine for the production of the cysteinyldopas used in pheomelanin synthesis, thereby regulating skin pigmentation (PubMed:33208952). Also catalyzes import of cysteine into lysosomes in non-pigmented cells (PubMed:33208952). {ECO:0000269|PubMed:33208952}. |
![]() * 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 BRD4-MFSD12 |
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Fusion Gene PPI Analysis for BRD4-MFSD12 |
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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 BRD4-MFSD12 |
![]() (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 BRD4-MFSD12 |
![]() (DisGeNet 4.0) |
Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
Hgene | BRD4 | C0017636 | Glioblastoma | 2 | CTD_human |
Hgene | BRD4 | C0334588 | Giant Cell Glioblastoma | 2 | CTD_human |
Hgene | BRD4 | C1621958 | Glioblastoma Multiforme | 2 | CTD_human |
Hgene | BRD4 | C0002170 | Alopecia | 1 | CTD_human |
Hgene | BRD4 | C0007102 | Malignant tumor of colon | 1 | CTD_human |
Hgene | BRD4 | C0009375 | Colonic Neoplasms | 1 | CTD_human |
Hgene | BRD4 | C0018798 | Congenital Heart Defects | 1 | GENOMICS_ENGLAND |
Hgene | BRD4 | C0019193 | Hepatitis, Toxic | 1 | CTD_human |
Hgene | BRD4 | C0020507 | Hyperplasia | 1 | CTD_human |
Hgene | BRD4 | C0020542 | Pulmonary Hypertension | 1 | CTD_human |
Hgene | BRD4 | C0025149 | Medulloblastoma | 1 | CTD_human |
Hgene | BRD4 | C0025958 | Microcephaly | 1 | GENOMICS_ENGLAND |
Hgene | BRD4 | C0029463 | Osteosarcoma | 1 | CTD_human |
Hgene | BRD4 | C0033578 | Prostatic Neoplasms | 1 | CTD_human |
Hgene | BRD4 | C0040136 | Thyroid Neoplasm | 1 | CTD_human |
Hgene | BRD4 | C0085413 | Polycystic Kidney, Autosomal Dominant | 1 | CTD_human |
Hgene | BRD4 | C0086873 | Pseudopelade | 1 | CTD_human |
Hgene | BRD4 | C0151468 | Thyroid Gland Follicular Adenoma | 1 | CTD_human |
Hgene | BRD4 | C0162311 | Androgenetic Alopecia | 1 | CTD_human |
Hgene | BRD4 | C0205833 | Medullomyoblastoma | 1 | CTD_human |
Hgene | BRD4 | C0263477 | Female pattern alopecia (disorder) | 1 | CTD_human |
Hgene | BRD4 | C0270972 | Cornelia De Lange Syndrome | 1 | CTD_human |
Hgene | BRD4 | C0278510 | Childhood Medulloblastoma | 1 | CTD_human |
Hgene | BRD4 | C0278876 | Adult Medulloblastoma | 1 | CTD_human |
Hgene | BRD4 | C0376358 | Malignant neoplasm of prostate | 1 | CTD_human |
Hgene | BRD4 | C0549473 | Thyroid carcinoma | 1 | CTD_human |
Hgene | BRD4 | C0751291 | Desmoplastic Medulloblastoma | 1 | CTD_human |
Hgene | BRD4 | C0860207 | Drug-Induced Liver Disease | 1 | CTD_human |
Hgene | BRD4 | C0887850 | Polycystic Kidney, Type 1 Autosomal Dominant Disease | 1 | CTD_human |
Hgene | BRD4 | C1262760 | Hepatitis, Drug-Induced | 1 | CTD_human |
Hgene | BRD4 | C1275668 | Melanotic medulloblastoma | 1 | CTD_human |
Hgene | BRD4 | C1707291 | NUT midline carcinoma | 1 | ORPHANET |
Hgene | BRD4 | C1802395 | Congenital muscular hypertrophy-cerebral syndrome | 1 | CTD_human |
Hgene | BRD4 | C1853099 | Cornelia de Lange Syndrome 3 | 1 | CTD_human |
Hgene | BRD4 | C2751306 | Polycystic kidney disease, type 2 | 1 | CTD_human |
Hgene | BRD4 | C3658290 | Drug-Induced Acute Liver Injury | 1 | CTD_human |
Hgene | BRD4 | C3714756 | Intellectual Disability | 1 | GENOMICS_ENGLAND |
Hgene | BRD4 | C4025871 | Abnormality of the face | 1 | GENOMICS_ENGLAND |
Hgene | BRD4 | C4083212 | Alopecia, Male Pattern | 1 | CTD_human |
Hgene | BRD4 | C4277682 | Chemical and Drug Induced Liver Injury | 1 | CTD_human |
Hgene | BRD4 | C4279912 | Chemically-Induced Liver Toxicity | 1 | CTD_human |
Hgene | BRD4 | C4551851 | Cornelia de Lange Syndrome 1 | 1 | CTD_human |