![]() |
||||||
|
![]() | |
![]() | |
![]() | |
![]() | |
![]() | |
![]() |
Fusion gene ID: 36178 |
FusionGeneSummary for SSR1_NOTCH2 |
![]() |
Fusion gene information | Fusion gene name: SSR1_NOTCH2 | Fusion gene ID: 36178 | Hgene | Tgene | Gene symbol | SSR1 | NOTCH2 | Gene ID | 6745 | 4853 |
Gene name | signal sequence receptor subunit 1 | notch 2 | |
Synonyms | TRAPA | AGS2|HJCYS|hN2 | |
Cytomap | 6p24.3 | 1p12 | |
Type of gene | protein-coding | protein-coding | |
Description | translocon-associated protein subunit alphaSSR alpha subunitSSR-alphaTRAP alphasignal sequence receptor subunit alphasignal sequence receptor, alphatranslocon-associated protein alpha subunit | neurogenic locus notch homolog protein 2Notch homolog 2 | |
Modification date | 20180523 | 20180519 | |
UniProtAcc | P43307 | Q04721 | |
Ensembl transtripts involved in fusion gene | ENST00000488834, ENST00000474597, ENST00000244763, ENST00000397511, ENST00000534851, ENST00000489567, ENST00000479365, ENST00000462112, | ENST00000256646, ENST00000602566, ENST00000493703, | |
Fusion gene scores | * DoF score | 10 X 11 X 4=440 | 9 X 7 X 3=189 |
# samples | 11 | 9 | |
** MAII score | log2(11/440*10)=-2 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(9/189*10)=-1.0703893278914 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
Context | PubMed: SSR1 [Title/Abstract] AND NOTCH2 [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) |
![]() |
Partner | Gene | GO ID | GO term | PubMed ID |
Tgene | NOTCH2 | GO:0007050 | cell cycle arrest | 11306509 |
Tgene | NOTCH2 | GO:0007219 | Notch signaling pathway | 11306509|25985737 |
Tgene | NOTCH2 | GO:0010629 | negative regulation of gene expression | 11306509 |
Tgene | NOTCH2 | GO:0045967 | negative regulation of growth rate | 11306509 |
Tgene | NOTCH2 | GO:0046579 | positive regulation of Ras protein signal transduction | 11306509 |
Tgene | NOTCH2 | GO:0070374 | positive regulation of ERK1 and ERK2 cascade | 11306509 |
![]() (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 | BF756608 | SSR1 | chr6 | 7299038 | + | NOTCH2 | chr1 | 120456886 | - |
* 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-3UTR | ENST00000488834 | ENST00000256646 | SSR1 | chr6 | 7299038 | + | NOTCH2 | chr1 | 120456886 | - |
intron-intron | ENST00000488834 | ENST00000602566 | SSR1 | chr6 | 7299038 | + | NOTCH2 | chr1 | 120456886 | - |
intron-intron | ENST00000488834 | ENST00000493703 | SSR1 | chr6 | 7299038 | + | NOTCH2 | chr1 | 120456886 | - |
intron-3UTR | ENST00000474597 | ENST00000256646 | SSR1 | chr6 | 7299038 | + | NOTCH2 | chr1 | 120456886 | - |
intron-intron | ENST00000474597 | ENST00000602566 | SSR1 | chr6 | 7299038 | + | NOTCH2 | chr1 | 120456886 | - |
intron-intron | ENST00000474597 | ENST00000493703 | SSR1 | chr6 | 7299038 | + | NOTCH2 | chr1 | 120456886 | - |
intron-3UTR | ENST00000244763 | ENST00000256646 | SSR1 | chr6 | 7299038 | + | NOTCH2 | chr1 | 120456886 | - |
intron-intron | ENST00000244763 | ENST00000602566 | SSR1 | chr6 | 7299038 | + | NOTCH2 | chr1 | 120456886 | - |
intron-intron | ENST00000244763 | ENST00000493703 | SSR1 | chr6 | 7299038 | + | NOTCH2 | chr1 | 120456886 | - |
intron-3UTR | ENST00000397511 | ENST00000256646 | SSR1 | chr6 | 7299038 | + | NOTCH2 | chr1 | 120456886 | - |
intron-intron | ENST00000397511 | ENST00000602566 | SSR1 | chr6 | 7299038 | + | NOTCH2 | chr1 | 120456886 | - |
intron-intron | ENST00000397511 | ENST00000493703 | SSR1 | chr6 | 7299038 | + | NOTCH2 | chr1 | 120456886 | - |
intron-3UTR | ENST00000534851 | ENST00000256646 | SSR1 | chr6 | 7299038 | + | NOTCH2 | chr1 | 120456886 | - |
intron-intron | ENST00000534851 | ENST00000602566 | SSR1 | chr6 | 7299038 | + | NOTCH2 | chr1 | 120456886 | - |
intron-intron | ENST00000534851 | ENST00000493703 | SSR1 | chr6 | 7299038 | + | NOTCH2 | chr1 | 120456886 | - |
intron-3UTR | ENST00000489567 | ENST00000256646 | SSR1 | chr6 | 7299038 | + | NOTCH2 | chr1 | 120456886 | - |
intron-intron | ENST00000489567 | ENST00000602566 | SSR1 | chr6 | 7299038 | + | NOTCH2 | chr1 | 120456886 | - |
intron-intron | ENST00000489567 | ENST00000493703 | SSR1 | chr6 | 7299038 | + | NOTCH2 | chr1 | 120456886 | - |
intron-3UTR | ENST00000479365 | ENST00000256646 | SSR1 | chr6 | 7299038 | + | NOTCH2 | chr1 | 120456886 | - |
intron-intron | ENST00000479365 | ENST00000602566 | SSR1 | chr6 | 7299038 | + | NOTCH2 | chr1 | 120456886 | - |
intron-intron | ENST00000479365 | ENST00000493703 | SSR1 | chr6 | 7299038 | + | NOTCH2 | chr1 | 120456886 | - |
intron-3UTR | ENST00000462112 | ENST00000256646 | SSR1 | chr6 | 7299038 | + | NOTCH2 | chr1 | 120456886 | - |
intron-intron | ENST00000462112 | ENST00000602566 | SSR1 | chr6 | 7299038 | + | NOTCH2 | chr1 | 120456886 | - |
intron-intron | ENST00000462112 | ENST00000493703 | SSR1 | chr6 | 7299038 | + | NOTCH2 | chr1 | 120456886 | - |
Top |
FusionProtFeatures for SSR1_NOTCH2 |
![]() |
Hgene | Tgene |
SSR1 | NOTCH2 |
Functions as a receptor for membrane-bound ligandsJagged1, Jagged2 and Delta1 to regulate cell-fate determination.Upon ligand activation through the released notch intracellulardomain (NICD) it forms a transcriptional activator complex withRBPJ/RBPSUH and activates genes of the enhancer of split locus.Affects the implementation of differentiation, proliferation andapoptotic programs (By similarity). Involved in bone remodelingand homeostasis. In collaboration with RELA/p65 enhances NFATc1promoter activity and positively regulates RANKL-inducedosteoclast differentiation (PubMed:29149593). Positively regulatesself-renewal of liver cancer cells (PubMed:25985737).{ECO:0000250|UniProtKB:O35516, ECO:0000269|PubMed:21378985,ECO:0000269|PubMed:21378989, ECO:0000269|PubMed:25985737,ECO:0000269|PubMed:29149593}. |
![]() * 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 |
Top |
FusionGeneSequence for SSR1_NOTCH2 |
![]() (nt: nucleotides, aa: amino acids) |
* Fusion amino acid sequences. |
* Fusion transcript sequences (only coding sequence (CDS) region). |
* Fusion transcript sequences (Full-length transcript). |
Top |
FusionGenePPI for SSR1_NOTCH2 |
![]() |
![]() |
Hgene | Hgene's interactors | Tgene | Tgene's interactors |
![]() |
Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Still interaction with |
![]() |
Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
![]() |
Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
Top |
RelatedDrugs for SSR1_NOTCH2 |
![]() (DrugBank Version 5.1.0 2018-04-02) |
Partner | Gene | UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
Top |
RelatedDiseases for SSR1_NOTCH2 |
![]() (DisGeNet 4.0) |
Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
Tgene | NOTCH2 | C0917715 | Hajdu-Cheney Syndrome | 2 | CTD_human;ORPHANET |
Tgene | NOTCH2 | C0004114 | Astrocytoma | 1 | CTD_human |
Tgene | NOTCH2 | C0007873 | Uterine Cervical Neoplasm | 1 | CTD_human |
Tgene | NOTCH2 | C0011860 | Diabetes Mellitus, Non-Insulin-Dependent | 1 | CTD_human |
Tgene | NOTCH2 | C0017636 | Glioblastoma | 1 | CTD_human |
Tgene | NOTCH2 | C0024121 | Lung Neoplasms | 1 | CTD_human |
Tgene | NOTCH2 | C0206663 | Neuroectodermal Tumor, Primitive | 1 | CTD_human |
Tgene | NOTCH2 | C0279626 | Squamous cell carcinoma of esophagus | 1 | CTD_human |
Tgene | NOTCH2 | C1458155 | Mammary Neoplasms | 1 | CTD_human |
Tgene | NOTCH2 | C1857761 | Alagille Syndrome 2 | 1 | ORPHANET;UNIPROT |