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Center for Computational Systems Medicine
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FusionGeneSummary

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FusionProtFeature

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FusionGeneSequence

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FusionGenePPI

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RelatedDrugs

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RelatedDiseases

Fusion gene ID: 36306

FusionGeneSummary for STAG2_AMMECR1

check button Fusion gene summary
Fusion gene informationFusion gene name: STAG2_AMMECR1
Fusion gene ID: 36306
HgeneTgene
Gene symbol

STAG2

AMMECR1

Gene ID

10735

9949

Gene namestromal antigen 2Alport syndrome, mental retardation, midface hypoplasia and elliptocytosis chromosomal region gene 1
SynonymsSA-2|SA2|SCC3B|bA517O1.1AMMERC1|MFHIEN
Cytomap

Xq25

Xq23

Type of geneprotein-codingprotein-coding
Descriptioncohesin subunit SA-2SCC3 homolog 2AMME syndrome candidate gene 1 proteinAlport syndrome mental retardation midface hypoplasia and elliptocytosis chromosomal region protein 1
Modification date2018052220180519
UniProtAcc

Q8N3U4

Q9Y4X0

Ensembl transtripts involved in fusion geneENST00000218089, ENST00000469481, 
ENST00000354548, ENST00000371160, 
ENST00000371157, ENST00000371145, 
ENST00000371144, 
ENST00000262844, 
ENST00000372059, ENST00000372057, 
ENST00000496695, 
Fusion gene scores* DoF score9 X 11 X 6=5942 X 2 X 2=8
# samples 132
** MAII scorelog2(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)

check button Gene ontology of each fusion partner gene with evidence of Inferred from Direct Assay (IDA) from Entrez
PartnerGeneGO IDGO termPubMed ID

check button Fusion gene information from three resources
(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 typeSourceCancer typeSampleHgeneHchrHbpHstrandTgeneTchrTbpTstrand
TCGARVBLCATCGA-GC-A4ZW-01ASTAG2chrX

123094716

+AMMECR1chrX

109507827

-
* LD: Li Ding group's fusion gene list
  RV: Roel Verhaak group's fusion gene list
  ChiTaRs fusion database

check button Open reading frame (ORF) analsis of fusion genes based on Ensembl gene isoform structure.
* Click on the break point to see the gene structure around the break point region using the UCSC Genome Browser.
ORFHenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrand
5UTR-3CDSENST00000218089ENST00000262844STAG2chrX

123094716

+AMMECR1chrX

109507827

-
5UTR-intronENST00000218089ENST00000372059STAG2chrX

123094716

+AMMECR1chrX

109507827

-
5UTR-intronENST00000218089ENST00000372057STAG2chrX

123094716

+AMMECR1chrX

109507827

-
5UTR-intronENST00000218089ENST00000496695STAG2chrX

123094716

+AMMECR1chrX

109507827

-
3UTR-3CDSENST00000469481ENST00000262844STAG2chrX

123094716

+AMMECR1chrX

109507827

-
3UTR-intronENST00000469481ENST00000372059STAG2chrX

123094716

+AMMECR1chrX

109507827

-
3UTR-intronENST00000469481ENST00000372057STAG2chrX

123094716

+AMMECR1chrX

109507827

-
3UTR-intronENST00000469481ENST00000496695STAG2chrX

123094716

+AMMECR1chrX

109507827

-
5UTR-3CDSENST00000354548ENST00000262844STAG2chrX

123094716

+AMMECR1chrX

109507827

-
5UTR-intronENST00000354548ENST00000372059STAG2chrX

123094716

+AMMECR1chrX

109507827

-
5UTR-intronENST00000354548ENST00000372057STAG2chrX

123094716

+AMMECR1chrX

109507827

-
5UTR-intronENST00000354548ENST00000496695STAG2chrX

123094716

+AMMECR1chrX

109507827

-
intron-3CDSENST00000371160ENST00000262844STAG2chrX

123094716

+AMMECR1chrX

109507827

-
intron-intronENST00000371160ENST00000372059STAG2chrX

123094716

+AMMECR1chrX

109507827

-
intron-intronENST00000371160ENST00000372057STAG2chrX

123094716

+AMMECR1chrX

109507827

-
intron-intronENST00000371160ENST00000496695STAG2chrX

123094716

+AMMECR1chrX

109507827

-
intron-3CDSENST00000371157ENST00000262844STAG2chrX

123094716

+AMMECR1chrX

109507827

-
intron-intronENST00000371157ENST00000372059STAG2chrX

123094716

+AMMECR1chrX

109507827

-
intron-intronENST00000371157ENST00000372057STAG2chrX

123094716

+AMMECR1chrX

109507827

-
intron-intronENST00000371157ENST00000496695STAG2chrX

123094716

+AMMECR1chrX

109507827

-
intron-3CDSENST00000371145ENST00000262844STAG2chrX

123094716

+AMMECR1chrX

109507827

-
intron-intronENST00000371145ENST00000372059STAG2chrX

123094716

+AMMECR1chrX

109507827

-
intron-intronENST00000371145ENST00000372057STAG2chrX

123094716

+AMMECR1chrX

109507827

-
intron-intronENST00000371145ENST00000496695STAG2chrX

123094716

+AMMECR1chrX

109507827

-
intron-3CDSENST00000371144ENST00000262844STAG2chrX

123094716

+AMMECR1chrX

109507827

-
intron-intronENST00000371144ENST00000372059STAG2chrX

123094716

+AMMECR1chrX

109507827

-
intron-intronENST00000371144ENST00000372057STAG2chrX

123094716

+AMMECR1chrX

109507827

-
intron-intronENST00000371144ENST00000496695STAG2chrX

123094716

+AMMECR1chrX

109507827

-

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FusionProtFeatures for STAG2_AMMECR1


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
STAG2

Q8N3U4

AMMECR1

Q9Y4X0

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}.

check buttonRetention analysis result of each fusion partner protein across 39 protein features of UniProt such as six molecule processing features, 13 region features, four site features, six amino acid modification features, two natural variation features, five experimental info features, and 3 secondary structure features. Here, because of limited space for viewing, we only show the protein feature retention information belong to the 13 regional features. All retention annotation result can be downloaded at

download page

.

* 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.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note

- In-frame and not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note


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FusionGeneSequence for STAG2_AMMECR1


check button For in-frame fusion transcripts, we provide the fusion transcript sequences and fusion amino acid sequences.
(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


check button Go to ChiPPI (Chimeric Protein-Protein interactions) to see the chimeric PPI interaction in

ChiPPI page

.

check button Protein-protein interactors with each fusion partner protein in wild-type (BIOGRID-3.4.160)
HgeneHgene's interactorsTgeneTgene's interactors
STAG2PDS5A, 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, OPRM1AMMECR1ELAVL1, CALCOCO2, RBPMS, ADAMTSL4, TSEN54, CLP1, PPIL4, GFER, ZNF703, HNRNPF, ZNF507


check button - Retained PPIs in in-frame fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenStill interaction with


check button - Lost PPIs in in-frame fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenInteraction lost with


check button - Retained PPIs, but lost function due to frame-shift fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenInteraction lost with


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RelatedDrugs for STAG2_AMMECR1


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.0 2018-04-02)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status

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RelatedDiseases for STAG2_AMMECR1


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneSTAG2C0005695Bladder Neoplasm3CTD_human
HgeneSTAG2C0007138Carcinoma, Transitional Cell1CTD_human
HgeneSTAG2C0023470Myeloid Leukemia1CTD_human
HgeneSTAG2C1860789Leukemia, Megakaryoblastic, of Down Syndrome1CTD_human