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Fusion gene ID: 873 |
FusionGeneSummary for ADD1_SREBF2 |
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Fusion gene information | Fusion gene name: ADD1_SREBF2 | Fusion gene ID: 873 | Hgene | Tgene | Gene symbol | ADD1 | SREBF2 | Gene ID | 118 | 6721 |
Gene name | adducin 1 | sterol regulatory element binding transcription factor 2 | |
Synonyms | ADDA | SREBP-2|SREBP2|bHLHd2 | |
Cytomap | 4p16.3 | 22q13.2 | |
Type of gene | protein-coding | protein-coding | |
Description | alpha-adducinadducin 1 (alpha)erythrocyte adducin alpha subunit | sterol regulatory element-binding protein 2class D basic helix-loop-helix protein 2 | |
Modification date | 20180523 | 20180522 | |
UniProtAcc | P35611 | Q12772 | |
Ensembl transtripts involved in fusion gene | ENST00000446856, ENST00000264758, ENST00000398125, ENST00000513328, ENST00000503455, ENST00000355842, ENST00000398123, ENST00000398129, ENST00000538860, | ENST00000361204, ENST00000491541, | |
Fusion gene scores | * DoF score | 11 X 8 X 7=616 | 12 X 12 X 5=720 |
# samples | 13 | 14 | |
** MAII score | log2(13/616*10)=-2.24441872766645 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(14/720*10)=-2.36257007938471 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
Context | PubMed: ADD1 [Title/Abstract] AND SREBF2 [Title/Abstract] AND fusion [Title/Abstract] | ||
Functional or gene categories assigned by FusionGDB annotation |
* 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 | ADD1 | GO:0032092 | positive regulation of protein binding | 3693401|7642559 |
Hgene | ADD1 | GO:0051016 | barbed-end actin filament capping | 8626479 |
Hgene | ADD1 | GO:0051017 | actin filament bundle assembly | 3693401 |
Hgene | ADD1 | GO:0071277 | cellular response to calcium ion | 25978380 |
Hgene | ADD1 | GO:1903142 | positive regulation of establishment of endothelial barrier | 25978380 |
Hgene | ADD1 | GO:1903393 | positive regulation of adherens junction organization | 25978380 |
Tgene | SREBF2 | GO:0000122 | negative regulation of transcription by RNA polymerase II | 15358760|19098903 |
Tgene | SREBF2 | GO:0010886 | positive regulation of cholesterol storage | 15358760 |
Tgene | SREBF2 | GO:0045944 | positive regulation of transcription by RNA polymerase II | 12242332|12446768 |
Tgene | SREBF2 | GO:0072368 | regulation of lipid transport by negative regulation of transcription from RNA polymerase II promoter | 15358760 |
Tgene | SREBF2 | GO:0090370 | negative regulation of cholesterol efflux | 15358760 |
![]() (ChiTars (NAR, 2018), tumorfusions (NAR, 2018), Gao et al. (Cell, 2018)) * 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. |
Data type | Source | Cancer type | Sample | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand |
ChiTaRS3.1 | BI040292 | ADD1 | chr4 | 2910483 | - | SREBF2 | chr22 | 42297807 | - |
* LD: Li Ding group's fusion gene list RV: Roel Verhaak group's fusion gene list ChiTaRs fusion database |
![]() * 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-intron | ENST00000446856 | ENST00000361204 | ADD1 | chr4 | 2910483 | - | SREBF2 | chr22 | 42297807 | - |
intron-intron | ENST00000446856 | ENST00000491541 | ADD1 | chr4 | 2910483 | - | SREBF2 | chr22 | 42297807 | - |
intron-intron | ENST00000264758 | ENST00000361204 | ADD1 | chr4 | 2910483 | - | SREBF2 | chr22 | 42297807 | - |
intron-intron | ENST00000264758 | ENST00000491541 | ADD1 | chr4 | 2910483 | - | SREBF2 | chr22 | 42297807 | - |
intron-intron | ENST00000398125 | ENST00000361204 | ADD1 | chr4 | 2910483 | - | SREBF2 | chr22 | 42297807 | - |
intron-intron | ENST00000398125 | ENST00000491541 | ADD1 | chr4 | 2910483 | - | SREBF2 | chr22 | 42297807 | - |
intron-intron | ENST00000513328 | ENST00000361204 | ADD1 | chr4 | 2910483 | - | SREBF2 | chr22 | 42297807 | - |
intron-intron | ENST00000513328 | ENST00000491541 | ADD1 | chr4 | 2910483 | - | SREBF2 | chr22 | 42297807 | - |
intron-intron | ENST00000503455 | ENST00000361204 | ADD1 | chr4 | 2910483 | - | SREBF2 | chr22 | 42297807 | - |
intron-intron | ENST00000503455 | ENST00000491541 | ADD1 | chr4 | 2910483 | - | SREBF2 | chr22 | 42297807 | - |
intron-intron | ENST00000355842 | ENST00000361204 | ADD1 | chr4 | 2910483 | - | SREBF2 | chr22 | 42297807 | - |
intron-intron | ENST00000355842 | ENST00000491541 | ADD1 | chr4 | 2910483 | - | SREBF2 | chr22 | 42297807 | - |
intron-intron | ENST00000398123 | ENST00000361204 | ADD1 | chr4 | 2910483 | - | SREBF2 | chr22 | 42297807 | - |
intron-intron | ENST00000398123 | ENST00000491541 | ADD1 | chr4 | 2910483 | - | SREBF2 | chr22 | 42297807 | - |
intron-intron | ENST00000398129 | ENST00000361204 | ADD1 | chr4 | 2910483 | - | SREBF2 | chr22 | 42297807 | - |
intron-intron | ENST00000398129 | ENST00000491541 | ADD1 | chr4 | 2910483 | - | SREBF2 | chr22 | 42297807 | - |
intron-intron | ENST00000538860 | ENST00000361204 | ADD1 | chr4 | 2910483 | - | SREBF2 | chr22 | 42297807 | - |
intron-intron | ENST00000538860 | ENST00000491541 | ADD1 | chr4 | 2910483 | - | SREBF2 | chr22 | 42297807 | - |
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FusionProtFeatures for ADD1_SREBF2 |
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Hgene | Tgene |
ADD1 | SREBF2 |
Transcriptional activator required for lipidhomeostasis. Regulates transcription of the LDL receptor gene aswell as the cholesterol and to a lesser degree the fatty acidsynthesis pathway (By similarity). Binds the sterol regulatoryelement 1 (SRE-1) (5'-ATCACCCCAC-3') found in the flanking regionof the LDRL and HMG-CoA synthase genes. {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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FusionGeneSequence for ADD1_SREBF2 |
![]() (nt: nucleotides, aa: amino acids) |
* Fusion amino acid sequences. |
* Fusion transcript sequences (only coding sequence (CDS) region). |
* Fusion transcript sequences (Full-length transcript). |
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FusionGenePPI for ADD1_SREBF2 |
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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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RelatedDrugs for ADD1_SREBF2 |
![]() (DrugBank Version 5.1.0 2018-04-02) |
Partner | Gene | UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
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RelatedDiseases for ADD1_SREBF2 |
![]() (DisGeNet 4.0) |
Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
Hgene | ADD1 | C0020538 | Hypertensive disease | 2 | CTD_human |
Hgene | ADD1 | C2239176 | Liver carcinoma | 1 | CTD_human |
Tgene | SREBF2 | C0021655 | Insulin Resistance | 1 | CTD_human |
Tgene | SREBF2 | C0022661 | Kidney Failure, Chronic | 1 | CTD_human |
Tgene | SREBF2 | C0036341 | Schizophrenia | 1 | PSYGENET |
Tgene | SREBF2 | C0038356 | Stomach Neoplasms | 1 | CTD_human |
Tgene | SREBF2 | C2239176 | Liver carcinoma | 1 | CTD_human |