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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: 1228

FusionGeneSummary for AHNAK_MACROD1

check button Fusion gene summary
Fusion gene informationFusion gene name: AHNAK_MACROD1
Fusion gene ID: 1228
HgeneTgene
Gene symbol

AHNAK

MACROD1

Gene ID

79026

28992

Gene nameAHNAK nucleoproteinMACRO domain containing 1
SynonymsAHNAKRS|PM227LRP16
Cytomap

11q12.3

11q13.1

Type of geneprotein-codingprotein-coding
Descriptionneuroblast differentiation-associated protein AHNAKAHNAK-relateddesmoyokinO-acetyl-ADP-ribose deacetylase MACROD1MACRO domain-containing protein 1[Protein ADP-ribosylglutamate] hydrolase
Modification date2018052320180519
UniProtAcc

Q09666

Q9BQ69

Ensembl transtripts involved in fusion geneENST00000530124, ENST00000257247, 
ENST00000525875, ENST00000378024, 
ENST00000255681, ENST00000538595, 
Fusion gene scores* DoF score20 X 15 X 9=27006 X 4 X 6=144
# samples 226
** MAII scorelog2(22/2700*10)=-3.61738397841353
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(6/144*10)=-1.26303440583379
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: AHNAK [Title/Abstract] AND MACROD1 [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
TgeneMACROD1

GO:0042278

purine nucleoside metabolic process

21257746

TgeneMACROD1

GO:0051725

protein de-ADP-ribosylation

23474712


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
TCGALDOVTCGA-25-2397-01AAHNAKchr11

62286437

-MACROD1chr11

63767767

-
* 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
intron-3CDSENST00000530124ENST00000255681AHNAKchr11

62286437

-MACROD1chr11

63767767

-
intron-intronENST00000530124ENST00000538595AHNAKchr11

62286437

-MACROD1chr11

63767767

-
intron-3CDSENST00000257247ENST00000255681AHNAKchr11

62286437

-MACROD1chr11

63767767

-
intron-intronENST00000257247ENST00000538595AHNAKchr11

62286437

-MACROD1chr11

63767767

-
intron-3CDSENST00000525875ENST00000255681AHNAKchr11

62286437

-MACROD1chr11

63767767

-
intron-intronENST00000525875ENST00000538595AHNAKchr11

62286437

-MACROD1chr11

63767767

-
intron-3CDSENST00000378024ENST00000255681AHNAKchr11

62286437

-MACROD1chr11

63767767

-
intron-intronENST00000378024ENST00000538595AHNAKchr11

62286437

-MACROD1chr11

63767767

-

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FusionProtFeatures for AHNAK_MACROD1


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

Q09666

MACROD1

Q9BQ69

May be required for neuronal cell differentiation. Removes ADP-ribose from glutamate residues in proteinsbearing a single ADP-ribose moiety. Inactive towards proteinsbearing poly-ADP-ribose. Deacetylates O-acetyl-ADP ribose, asignaling molecule generated by the deacetylation of acetylatedlysine residues in histones and other proteins. Plays a role inestrogen signaling. Binds to androgen receptor (AR) and amplifiesthe transactivation function of AR in response to androgen. Mayplay an important role in carcinogenesis and/or progression ofhormone-dependent cancers by feed-forward mechanism that activatesESR1 transactivation. Could be an ESR1 coactivator, providing apositive feedback regulatory loop for ESR1 signal transduction.Could be involved in invasive growth by down-regulating CDH1 inendometrial cancer cells. Enhances ESR1-mediated transcriptionactivity. {ECO:0000269|PubMed:17893710,ECO:0000269|PubMed:17914104, ECO:0000269|PubMed:19022849,ECO:0000269|PubMed:19403568, ECO:0000269|PubMed:21257746,ECO:0000269|PubMed:23474712}.

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 AHNAK_MACROD1


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 AHNAK_MACROD1


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
AHNAKEZR, S100B, EGFR, SIRT7, ISG15, POT1, CDK2, GRB2, HNRNPD, ESR1, DMD, FMNL1, FN1, ATF2, ATP4A, TARDBP, BAG2, RPA1, RPA2, RPA3, KLHL40, AHNAK, NOL9, NXF1, CUL7, OBSL1, CCDC8, SUMO2, JSRP1, S100A10, ACTN4, ASNS, C14orf166, CDC42, EEF1B2, EEF1D, GORASP2, GRPEL1, HSPA9, HSPB1, LASP1, MYL6, OXCT1, STMN1, TARS, ARHGDIA, CCT5, EEF1A1, EEF2, FLNB, HNRNPAB, HNRNPDL, HNRNPH1, PSME3, RUVBL1, SEC16A, STIP1, VARS, YARS, MED4, CAPZA2, HSPA5, MYH9, STRN, LIMA1, MYO19, TUBA1C, SKI, MCM2, SNW1, CDC5L, U2AF2, ZNF131, CDH1, PPP3CB, HSD17B3, PMS1, ING2, GJB7, ALPPL2, PCK2, GPR141, PYCR2, SDC1, POLH, USP14, ZNF517, RFPL2, PCDHGC3, GALK2, PLEC, PPIP5K2, CYLD, TRIM25, BRCA1, YAP1, TXNIPMACROD1BAG3, PARP1, IKBKG, XRCC6, XRCC5, IKBKB, ERC1, EIF2AK2, HNRNPU, CSTF3, YBX1, DHX9, DDX21, PPP2R1A, PTP4A1, H2AFX, PARP2, SUPT16H, HIST2H3PS2, XPC, SSRP1, HBA2, EXOC3, CETN2, LIG3, HBE1, RPA1, PTPN6, PTPN7, DLD


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 AHNAK_MACROD1


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 AHNAK_MACROD1


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneAHNAKC0007134Renal Cell Carcinoma1CTD_human
HgeneAHNAKC0023893Liver Cirrhosis, Experimental1CTD_human
HgeneAHNAKC0263454Chloracne1CTD_human