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Fusion gene ID: 36306 |
FusionGeneSummary for STAG2_AMMECR1 |
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Fusion gene information | Fusion gene name: STAG2_AMMECR1 | Fusion gene ID: 36306 | Hgene | Tgene | Gene symbol | STAG2 | AMMECR1 | Gene ID | 10735 | 9949 |
Gene name | stromal antigen 2 | Alport syndrome, mental retardation, midface hypoplasia and elliptocytosis chromosomal region gene 1 | |
Synonyms | SA-2|SA2|SCC3B|bA517O1.1 | AMMERC1|MFHIEN | |
Cytomap | Xq25 | Xq23 | |
Type of gene | protein-coding | protein-coding | |
Description | cohesin subunit SA-2SCC3 homolog 2 | AMME syndrome candidate gene 1 proteinAlport syndrome mental retardation midface hypoplasia and elliptocytosis chromosomal region protein 1 | |
Modification date | 20180522 | 20180519 | |
UniProtAcc | Q8N3U4 | Q9Y4X0 | |
Ensembl transtripts involved in fusion gene | ENST00000218089, ENST00000469481, ENST00000354548, ENST00000371160, ENST00000371157, ENST00000371145, ENST00000371144, | ENST00000262844, ENST00000372059, ENST00000372057, ENST00000496695, | |
Fusion gene scores | * DoF score | 9 X 11 X 6=594 | 2 X 2 X 2=8 |
# samples | 13 | 2 | |
** MAII score | log2(13/594*10)=-2.19195130777231 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(2/8*10)=1.32192809488736 | |
Context | PubMed: STAG2 [Title/Abstract] AND AMMECR1 [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 |
![]() (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 |
TCGA | RV | BLCA | TCGA-GC-A4ZW-01A | STAG2 | chrX | 123094716 | + | AMMECR1 | chrX | 109507827 | - |
* 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 |
5UTR-3CDS | ENST00000218089 | ENST00000262844 | STAG2 | chrX | 123094716 | + | AMMECR1 | chrX | 109507827 | - |
5UTR-intron | ENST00000218089 | ENST00000372059 | STAG2 | chrX | 123094716 | + | AMMECR1 | chrX | 109507827 | - |
5UTR-intron | ENST00000218089 | ENST00000372057 | STAG2 | chrX | 123094716 | + | AMMECR1 | chrX | 109507827 | - |
5UTR-intron | ENST00000218089 | ENST00000496695 | STAG2 | chrX | 123094716 | + | AMMECR1 | chrX | 109507827 | - |
3UTR-3CDS | ENST00000469481 | ENST00000262844 | STAG2 | chrX | 123094716 | + | AMMECR1 | chrX | 109507827 | - |
3UTR-intron | ENST00000469481 | ENST00000372059 | STAG2 | chrX | 123094716 | + | AMMECR1 | chrX | 109507827 | - |
3UTR-intron | ENST00000469481 | ENST00000372057 | STAG2 | chrX | 123094716 | + | AMMECR1 | chrX | 109507827 | - |
3UTR-intron | ENST00000469481 | ENST00000496695 | STAG2 | chrX | 123094716 | + | AMMECR1 | chrX | 109507827 | - |
5UTR-3CDS | ENST00000354548 | ENST00000262844 | STAG2 | chrX | 123094716 | + | AMMECR1 | chrX | 109507827 | - |
5UTR-intron | ENST00000354548 | ENST00000372059 | STAG2 | chrX | 123094716 | + | AMMECR1 | chrX | 109507827 | - |
5UTR-intron | ENST00000354548 | ENST00000372057 | STAG2 | chrX | 123094716 | + | AMMECR1 | chrX | 109507827 | - |
5UTR-intron | ENST00000354548 | ENST00000496695 | STAG2 | chrX | 123094716 | + | AMMECR1 | chrX | 109507827 | - |
intron-3CDS | ENST00000371160 | ENST00000262844 | STAG2 | chrX | 123094716 | + | AMMECR1 | chrX | 109507827 | - |
intron-intron | ENST00000371160 | ENST00000372059 | STAG2 | chrX | 123094716 | + | AMMECR1 | chrX | 109507827 | - |
intron-intron | ENST00000371160 | ENST00000372057 | STAG2 | chrX | 123094716 | + | AMMECR1 | chrX | 109507827 | - |
intron-intron | ENST00000371160 | ENST00000496695 | STAG2 | chrX | 123094716 | + | AMMECR1 | chrX | 109507827 | - |
intron-3CDS | ENST00000371157 | ENST00000262844 | STAG2 | chrX | 123094716 | + | AMMECR1 | chrX | 109507827 | - |
intron-intron | ENST00000371157 | ENST00000372059 | STAG2 | chrX | 123094716 | + | AMMECR1 | chrX | 109507827 | - |
intron-intron | ENST00000371157 | ENST00000372057 | STAG2 | chrX | 123094716 | + | AMMECR1 | chrX | 109507827 | - |
intron-intron | ENST00000371157 | ENST00000496695 | STAG2 | chrX | 123094716 | + | AMMECR1 | chrX | 109507827 | - |
intron-3CDS | ENST00000371145 | ENST00000262844 | STAG2 | chrX | 123094716 | + | AMMECR1 | chrX | 109507827 | - |
intron-intron | ENST00000371145 | ENST00000372059 | STAG2 | chrX | 123094716 | + | AMMECR1 | chrX | 109507827 | - |
intron-intron | ENST00000371145 | ENST00000372057 | STAG2 | chrX | 123094716 | + | AMMECR1 | chrX | 109507827 | - |
intron-intron | ENST00000371145 | ENST00000496695 | STAG2 | chrX | 123094716 | + | AMMECR1 | chrX | 109507827 | - |
intron-3CDS | ENST00000371144 | ENST00000262844 | STAG2 | chrX | 123094716 | + | AMMECR1 | chrX | 109507827 | - |
intron-intron | ENST00000371144 | ENST00000372059 | STAG2 | chrX | 123094716 | + | AMMECR1 | chrX | 109507827 | - |
intron-intron | ENST00000371144 | ENST00000372057 | STAG2 | chrX | 123094716 | + | AMMECR1 | chrX | 109507827 | - |
intron-intron | ENST00000371144 | ENST00000496695 | STAG2 | chrX | 123094716 | + | AMMECR1 | chrX | 109507827 | - |
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FusionProtFeatures for STAG2_AMMECR1 |
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Hgene | Tgene |
STAG2 | AMMECR1 |
Component of cohesin complex, a complex required for thecohesion of sister chromatids after DNA replication. The cohesincomplex apparently forms a large proteinaceous ring within whichsister chromatids can be trapped. At anaphase, the complex iscleaved and dissociates from chromatin, allowing sister chromatidsto segregate. The cohesin complex may also play a role in spindlepole assembly during mitosis. {ECO:0000269|PubMed:12034751}. |
![]() * 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 STAG2_AMMECR1 |
![]() (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 STAG2_AMMECR1 |
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Hgene | Hgene's interactors | Tgene | Tgene's interactors |
STAG2 | PDS5A, SRRM1, SSU72, RAD21, SMC1A, SMC3, PDS5B, WFDC5, WAPAL, SIRT7, NSMCE2, PLK1, SFPQ, SRRM2, RBM14, NHP2L1, VCP, CDCA5, HDAC8, OBSL1, COMTD1, VSIG2, GPR183, PNKD, ALDH3A2, PIP5K1A, BZW2, COPE, EXOSC2, EXOSC9, SMC1B, KDM2A, NTRK1, FOXB1, USP37, CDC5L, SIGLECL1, CD70, CCDC102B, GYPB, CD83, OPRM1 | AMMECR1 | ELAVL1, CALCOCO2, RBPMS, ADAMTSL4, TSEN54, CLP1, PPIL4, GFER, ZNF703, HNRNPF, ZNF507 |
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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 STAG2_AMMECR1 |
![]() (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 STAG2_AMMECR1 |
![]() (DisGeNet 4.0) |
Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
Hgene | STAG2 | C0005695 | Bladder Neoplasm | 3 | CTD_human |
Hgene | STAG2 | C0007138 | Carcinoma, Transitional Cell | 1 | CTD_human |
Hgene | STAG2 | C0023470 | Myeloid Leukemia | 1 | CTD_human |
Hgene | STAG2 | C1860789 | Leukemia, Megakaryoblastic, of Down Syndrome | 1 | CTD_human |