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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: 20518

FusionGeneSummary for MACROD1_NRXN2

check button Fusion gene summary
Fusion gene informationFusion gene name: MACROD1_NRXN2
Fusion gene ID: 20518
HgeneTgene
Gene symbol

MACROD1

NRXN2

Gene ID

28992

9379

Gene nameMACRO domain containing 1neurexin 2
SynonymsLRP16-
Cytomap

11q13.1

11q13.1

Type of geneprotein-codingprotein-coding
DescriptionO-acetyl-ADP-ribose deacetylase MACROD1MACRO domain-containing protein 1[Protein ADP-ribosylglutamate] hydrolaseneurexin-2-betaneurexin II
Modification date2018051920180519
UniProtAcc

Q9BQ69

Q9P2S2

Ensembl transtripts involved in fusion geneENST00000255681, ENST00000538595, 
ENST00000377559, ENST00000265459, 
ENST00000301894, ENST00000377551, 
ENST00000409571, ENST00000496291, 
Fusion gene scores* DoF score11 X 2 X 11=2428 X 8 X 5=320
# samples 138
** MAII scorelog2(13/242*10)=-0.89649542424614
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(8/320*10)=-2
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: MACROD1 [Title/Abstract] AND NRXN2 [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
HgeneMACROD1

GO:0042278

purine nucleoside metabolic process

21257746

HgeneMACROD1

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
TCGARVBLCATCGA-BT-A20W-01AMACROD1chr11

63918711

-NRXN2chr11

64375554

-
* 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
Frame-shitENST00000255681ENST00000377559MACROD1chr11

63918711

-NRXN2chr11

64375554

-
Frame-shitENST00000255681ENST00000265459MACROD1chr11

63918711

-NRXN2chr11

64375554

-
Frame-shitENST00000255681ENST00000301894MACROD1chr11

63918711

-NRXN2chr11

64375554

-
Frame-shitENST00000255681ENST00000377551MACROD1chr11

63918711

-NRXN2chr11

64375554

-
In-frameENST00000255681ENST00000409571MACROD1chr11

63918711

-NRXN2chr11

64375554

-
5CDS-intronENST00000255681ENST00000496291MACROD1chr11

63918711

-NRXN2chr11

64375554

-
5UTR-3CDSENST00000538595ENST00000377559MACROD1chr11

63918711

-NRXN2chr11

64375554

-
5UTR-3CDSENST00000538595ENST00000265459MACROD1chr11

63918711

-NRXN2chr11

64375554

-
5UTR-3CDSENST00000538595ENST00000301894MACROD1chr11

63918711

-NRXN2chr11

64375554

-
5UTR-3CDSENST00000538595ENST00000377551MACROD1chr11

63918711

-NRXN2chr11

64375554

-
5UTR-3CDSENST00000538595ENST00000409571MACROD1chr11

63918711

-NRXN2chr11

64375554

-
5UTR-intronENST00000538595ENST00000496291MACROD1chr11

63918711

-NRXN2chr11

64375554

-

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FusionProtFeatures for MACROD1_NRXN2


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
MACROD1

Q9BQ69

NRXN2

Q9P2S2

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}. Neuronal cell surface protein that may be involved incell recognition and cell adhesion. May mediate intracellularsignaling.

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 MACROD1_NRXN2


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.
>In-frame_MACROD1_ENST00000255681_chr11_63918711_-_NRXN2_ENST00000409571_chr11_64375554_-_468aa
MSLQSRLSGRLAQLRAAGQLLVPPRPRPGHLAGATRTRSSTCGPPAFLGVFGRRARTSAGVGAWGAAAVGRTAGVRTWAPLAMAAKVDLS
TSTDWKEAKSFLKGLSDKQREEHYFCKDFVRLKKIPTWKEMAKGVAVKVEEPRTKKDKQLNEKISLLRSDITKLEVDAIVNAGGELILPI
ITEDSLDPPPVATRSPFVPPPPTFYPFLTGVGATQDTLPPPAARRPPSGGPCQAERDDSDCEEPIEASGFASGEVFDSSLPPTDDEDFYT
TFPLVTDRTTLLSPRKPAPRPNLRTDGATGAPGVLFAPSAPAPNLPAGKMNHRDPLQPLLENPPLGPGAPTSFEPRRPPPLRPGVTSAPG
FPHLPTANPTGPGERGPPGAVEVIRESSSTTGMVVGIVAAAALCILILLYAMTKYRNRDEGSYQVDQSRNYISNSAQSNGAVVKEKAPAA


* Fusion transcript sequences (only coding sequence (CDS) region).
>In-frame_MACROD1_ENST00000255681_chr11_63918711_-_NRXN2_ENST00000409571_chr11_64375554_-_1404nt
ATGTCTCTACAGAGCCGACTGTCCGGCCGCCTGGCACAGCTGCGCGCGGCGGGGCAGCTGCTCGTCCCCCCGCGCCCCCGGCCCGGACAC
TTGGCGGGTGCCACGAGGACCCGCAGCAGCACGTGCGGTCCCCCGGCGTTCCTGGGCGTGTTCGGCCGCCGTGCGCGGACCTCGGCGGGA
GTTGGGGCGTGGGGGGCGGCGGCGGTGGGGCGGACAGCCGGGGTGCGCACTTGGGCCCCCCTGGCCATGGCGGCGAAGGTGGACCTGAGC
ACCTCCACCGACTGGAAGGAGGCGAAATCCTTTCTGAAGGGCCTGAGTGACAAGCAGCGGGAGGAACATTACTTCTGCAAGGACTTTGTC
AGGCTGAAGAAGATCCCGACATGGAAGGAGATGGCGAAAGGGGTGGCTGTGAAGGTGGAGGAGCCCAGGTATAAAAAGGACAAGCAGCTC
AATGAGAAAATCTCCCTGCTCCGCAGCGACATCACCAAGCTGGAGGTGGACGCCATCGTCAACGCCGGAGGAGAGTTAATATTGCCCATT
ATCACGGAGGACTCCTTAGACCCCCCTCCCGTGGCCACCCGATCCCCCTTCGTGCCCCCGCCCCCTACCTTCTACCCCTTCCTCACGGGA
GTGGGCGCCACCCAAGACACGCTGCCCCCGCCCGCCGCGCGCCGCCCGCCCTCTGGGGGCCCGTGCCAGGCCGAGCGGGACGACAGCGAC
TGCGAGGAGCCCATCGAGGCCTCGGGCTTCGCCTCCGGGGAGGTCTTTGACTCCAGCCTCCCCCCCACGGACGACGAGGACTTTTACACC
ACCTTTCCCCTGGTCACGGACCGCACCACCCTCCTGTCACCCCGCAAACCCGCTCCCCGGCCCAACCTCAGGACAGATGGGGCCACGGGC
GCCCCTGGGGTGCTGTTTGCCCCCTCCGCCCCGGCCCCCAACCTGCCGGCGGGCAAAATGAACCACCGAGACCCGCTTCAGCCCTTGCTG
GAGAACCCGCCCTTGGGGCCCGGGGCCCCCACGTCCTTTGAGCCGCGGAGGCCCCCTCCCCTGCGCCCCGGCGTGACCTCAGCCCCCGGC
TTCCCCCATCTGCCCACAGCCAACCCCACAGGGCCTGGGGAGCGGGGCCCGCCGGGCGCAGTGGAGGTGATCCGGGAGTCCAGCAGCACC
ACGGGCATGGTGGTGGGCATTGTGGCGGCGGCGGCGCTCTGCATCCTCATCCTCCTCTACGCCATGTATAAGTACCGCAATCGTGATGAG
GGCTCCTACCAGGTGGACCAGAGCCGAAACTACATCAGTAACTCGGCCCAGAGCAATGGGGCGGTGGTGAAAGAGAAGGCCCCGGCTGCC


* Fusion transcript sequences (Full-length transcript).
>In-frame_MACROD1_ENST00000255681_chr11_63918711_-_NRXN2_ENST00000409571_chr11_64375554_-_2490nt
GAGAGACACTCCCGAGCGCCGTAAATAGAGTCCAAGTGGGCGGAGAGCCGTCCCGCGCCGCCCGCTCATGTCTCTACAGAGCCGACTGTC
CGGCCGCCTGGCACAGCTGCGCGCGGCGGGGCAGCTGCTCGTCCCCCCGCGCCCCCGGCCCGGACACTTGGCGGGTGCCACGAGGACCCG
CAGCAGCACGTGCGGTCCCCCGGCGTTCCTGGGCGTGTTCGGCCGCCGTGCGCGGACCTCGGCGGGAGTTGGGGCGTGGGGGGCGGCGGC
GGTGGGGCGGACAGCCGGGGTGCGCACTTGGGCCCCCCTGGCCATGGCGGCGAAGGTGGACCTGAGCACCTCCACCGACTGGAAGGAGGC
GAAATCCTTTCTGAAGGGCCTGAGTGACAAGCAGCGGGAGGAACATTACTTCTGCAAGGACTTTGTCAGGCTGAAGAAGATCCCGACATG
GAAGGAGATGGCGAAAGGGGTGGCTGTGAAGGTGGAGGAGCCCAGGTATAAAAAGGACAAGCAGCTCAATGAGAAAATCTCCCTGCTCCG
CAGCGACATCACCAAGCTGGAGGTGGACGCCATCGTCAACGCCGGAGGAGAGTTAATATTGCCCATTATCACGGAGGACTCCTTAGACCC
CCCTCCCGTGGCCACCCGATCCCCCTTCGTGCCCCCGCCCCCTACCTTCTACCCCTTCCTCACGGGAGTGGGCGCCACCCAAGACACGCT
GCCCCCGCCCGCCGCGCGCCGCCCGCCCTCTGGGGGCCCGTGCCAGGCCGAGCGGGACGACAGCGACTGCGAGGAGCCCATCGAGGCCTC
GGGCTTCGCCTCCGGGGAGGTCTTTGACTCCAGCCTCCCCCCCACGGACGACGAGGACTTTTACACCACCTTTCCCCTGGTCACGGACCG
CACCACCCTCCTGTCACCCCGCAAACCCGCTCCCCGGCCCAACCTCAGGACAGATGGGGCCACGGGCGCCCCTGGGGTGCTGTTTGCCCC
CTCCGCCCCGGCCCCCAACCTGCCGGCGGGCAAAATGAACCACCGAGACCCGCTTCAGCCCTTGCTGGAGAACCCGCCCTTGGGGCCCGG
GGCCCCCACGTCCTTTGAGCCGCGGAGGCCCCCTCCCCTGCGCCCCGGCGTGACCTCAGCCCCCGGCTTCCCCCATCTGCCCACAGCCAA
CCCCACAGGGCCTGGGGAGCGGGGCCCGCCGGGCGCAGTGGAGGTGATCCGGGAGTCCAGCAGCACCACGGGCATGGTGGTGGGCATTGT
GGCGGCGGCGGCGCTCTGCATCCTCATCCTCCTCTACGCCATGTATAAGTACCGCAATCGTGATGAGGGCTCCTACCAGGTGGACCAGAG
CCGAAACTACATCAGTAACTCGGCCCAGAGCAATGGGGCGGTGGTGAAAGAGAAGGCCCCGGCTGCCCCCAAGACGCCCAGCAAGGCCAA
GAAGAACAAAGACAAGGAGTATTATGTCTGAGCCCCCGGCACTGCGCCCCACTGCCAGCTGCCCCTCCTGGGAGGGCCCGGGAGGAGGGT
GCCACCCTCTCCCTGCCAGGGGCCTGGGGACCCTCTCCCTGGCTGCCTCAGGCTTCTCTTACGAAGAGGAAACGCAAAAAAAGAAAAGGA
AAAACCCCGTGCTCGCCCCCTTCCTCCTGCCGTCCACTGCGCGGCCTCGTCAGTCCCGGGGCTGACTGTCCCTCTCAGCTCTGCGCCTGC
CAGGCAGGGCACGTGCTCACAGCCCTGGGTTGATTTATTTTTTTAAGGGGGTAGTTTTATTTTGGTGGGGTTGGGTGGGAAGGAAGGCTG
GGGGTTTTGTAAAGTGTCCACTGCTCGTCCTGTTAATTTTCCTCAATTTTTCTTCTTCTTCCTTCTGTCCCTCCTGCCTTCCTTCTCTTC
CCAAGCCCTCCAATCCCCATCCCAGGCTTGCTGTGTCTCACTGTCCCCACCCTCCTTCCCTACTTCTTTTTTTGTGTGTCTGGTTTCTCC
CTTCCTTTCCTCCCTTTGGGTTTCCAGAGTCGGTGGGAGAAGGGCGGGAGGGTGGGCCCGAGTGGCCCAGTGGGTGGGTGGGGTGGGGTG
GGGCAAGTGCCCCAACTCCCCTCACCAGGAGAGGCACCTGCTTGGTGCCGCCCAGGGAAGGGGCTCAGGCCTGACGGAAGGCCTGTTCTG
TGTGTGCCGCCGGGCGACGTGCATTGATGGGGAAGCTGCTGGAGGAGCAGGGGTGGGGGGTGGGAGGGAGGGGAAAGGCAAATGCAGATA
TATATTACAGACAAATACTCTAGATTCCACGAGCAGCAGCCTGTGGCACCCGCTGGGCGCGGGCAGCAGGGAAGAGGGAGCAAGGCATTG
TCCACAGACTGCTGGGGTCACTTCTTTGCCCACGGGCTCCCTGCTCCCCCAGTTTTTTTTCTCTCTTTGTTAACAAATGTGTCTGAGTCT


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FusionGenePPI for MACROD1_NRXN2


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
MACROD1BAG3, 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, DLDNRXN2NLGN1, NLGN2, MLLT4, MAPK6, MACF1


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 MACROD1_NRXN2


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 MACROD1_NRXN2


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
TgeneNRXN2C0036341Schizophrenia1PSYGENET
TgeneNRXN2C1510586Autism Spectrum Disorders1CTD_human