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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: 960

FusionGeneSummary for AEBP1_ANKS1A

check button Fusion gene summary
Fusion gene informationFusion gene name: AEBP1_ANKS1A
Fusion gene ID: 960
HgeneTgene
Gene symbol

AEBP1

ANKS1A

Gene ID

165

23294

Gene nameAE binding protein 1ankyrin repeat and sterile alpha motif domain containing 1A
SynonymsACLPANKS1
Cytomap

7p13

6p21.31

Type of geneprotein-codingprotein-coding
Descriptionadipocyte enhancer-binding protein 1aortic carboxypeptidase-like proteinankyrin repeat and SAM domain-containing protein 1AOdinankyrin repeat and SAM domain containing 1
Modification date2018052320180522
UniProtAcc

Q8IUX7

Q92625

Ensembl transtripts involved in fusion geneENST00000223357, ENST00000454218, 
ENST00000450684, 
ENST00000360359, 
ENST00000535627, ENST00000470698, 
Fusion gene scores* DoF score5 X 4 X 4=8026 X 6 X 14=2184
# samples 528
** MAII scorelog2(5/80*10)=-0.678071905112638
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(28/2184*10)=-2.96347412397489
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: AEBP1 [Title/Abstract] AND ANKS1A [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
TCGARVLUADTCGA-64-1679-01AAEBP1chr7

44154159

+ANKS1Achr6

34977682

+
* 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
5CDS-intronENST00000223357ENST00000360359AEBP1chr7

44154159

+ANKS1Achr6

34977682

+
5CDS-intronENST00000223357ENST00000535627AEBP1chr7

44154159

+ANKS1Achr6

34977682

+
5CDS-intronENST00000223357ENST00000470698AEBP1chr7

44154159

+ANKS1Achr6

34977682

+
intron-intronENST00000454218ENST00000360359AEBP1chr7

44154159

+ANKS1Achr6

34977682

+
intron-intronENST00000454218ENST00000535627AEBP1chr7

44154159

+ANKS1Achr6

34977682

+
intron-intronENST00000454218ENST00000470698AEBP1chr7

44154159

+ANKS1Achr6

34977682

+
5CDS-intronENST00000450684ENST00000360359AEBP1chr7

44154159

+ANKS1Achr6

34977682

+
5CDS-intronENST00000450684ENST00000535627AEBP1chr7

44154159

+ANKS1Achr6

34977682

+
5CDS-intronENST00000450684ENST00000470698AEBP1chr7

44154159

+ANKS1Achr6

34977682

+

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FusionProtFeatures for AEBP1_ANKS1A


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
AEBP1

Q8IUX7

ANKS1A

Q92625

May positively regulate MAP-kinase activity inadipocytes, leading to enhanced adipocyte proliferation andreduced adipocyte differentiation. May also positively regulateNF-kappa-B activity in macrophages by promoting thephosphorylation and subsequent degradation of I-kappa-B-alpha(NFKBIA), leading to enhanced macrophage inflammatoryresponsiveness. Can act as a transcriptional repressor.{ECO:0000250}. Regulator of different signaling pathways. RegulatesEPHA8 receptor tyrosine kinase signaling to control cell migrationand neurite retraction (By similarity). {ECO:0000250,ECO:0000269|PubMed:17875921}.

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 AEBP1_ANKS1A


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 AEBP1_ANKS1A


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
AEBP1GRB2ANKS1AYWHAG, SFN, UBC, EPHA8, EGFR, ERBB2, ERBB4, BAG3, YWHAB, DNPEP, PACSIN2, PTPN12, TRIM47, DEF6, PIK3R3, ARHGAP10, DOK3, KLF15, NHLRC2, TRIT1, RANBP3, RB1, SMARCD1, RIN1, DAB2IP, HIF1AN, TRIM25


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 AEBP1_ANKS1A


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 AEBP1_ANKS1A


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
TgeneANKS1AC1956346Coronary Artery Disease1CTD_human