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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: 20525

FusionGeneSummary for MACROD1_TCN1

check button Fusion gene summary
Fusion gene informationFusion gene name: MACROD1_TCN1
Fusion gene ID: 20525
HgeneTgene
Gene symbol

MACROD1

TCN1

Gene ID

28992

6947

Gene nameMACRO domain containing 1transcobalamin 1
SynonymsLRP16HC|TC-1|TC1|TCI
Cytomap

11q13.1

11q12.1

Type of geneprotein-codingprotein-coding
DescriptionO-acetyl-ADP-ribose deacetylase MACROD1MACRO domain-containing protein 1[Protein ADP-ribosylglutamate] hydrolasetranscobalamin-1haptocorinhaptocorrinprotein Rtranscobalamin I (vitamin B12 binding protein, R binder family)
Modification date2018051920180519
UniProtAcc

Q9BQ69

P20061

Ensembl transtripts involved in fusion geneENST00000255681, ENST00000538595, 
ENST00000257264, ENST00000532419, 
Fusion gene scores* DoF score11 X 2 X 11=2423 X 3 X 3=27
# samples 133
** MAII scorelog2(13/242*10)=-0.89649542424614
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(3/27*10)=0.15200309344505
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
Context

PubMed: MACROD1 [Title/Abstract] AND TCN1 [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
TCGARVHNSCTCGA-CN-A49C-01AMACROD1chr11

63918711

-TCN1chr11

59622308

-
* 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
In-frameENST00000255681ENST00000257264MACROD1chr11

63918711

-TCN1chr11

59622308

-
5CDS-5UTRENST00000255681ENST00000532419MACROD1chr11

63918711

-TCN1chr11

59622308

-
5UTR-3CDSENST00000538595ENST00000257264MACROD1chr11

63918711

-TCN1chr11

59622308

-
5UTR-5UTRENST00000538595ENST00000532419MACROD1chr11

63918711

-TCN1chr11

59622308

-

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FusionProtFeatures for MACROD1_TCN1


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

Q9BQ69

TCN1

P20061

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}. Binds vitamin B12 with femtomolar affinity and protectsit from the acidic environment of the stomach.

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
HgeneMACROD1chr11:63918711chr11:59622308ENST00000255681-311159_161172225RegionSubstrate binding
HgeneMACROD1chr11:63918711chr11:59622308ENST00000255681-311172_174172225RegionSubstrate binding
TgeneTCN1chr11:63918711chr11:59622308ENST00000257264-59311_332312434RegionNote=Flexible linker
TgeneTCN1chr11:63918711chr11:59622308ENST00000257264-59333_433312434RegionNote=Globular C-terminal beta domain
TgeneTCN1chr11:63918711chr11:59622308ENST00000257264-59402_404312434RegionNote=Cobalamin binding

- In-frame and not-retained protein feature among the 13 regional features.
>>>
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgeneMACROD1chr11:63918711chr11:59622308ENST00000255681-311141_322172225DomainMacro
HgeneMACROD1chr11:63918711chr11:59622308ENST00000255681-311179_184172225RegionSubstrate binding
HgeneMACROD1chr11:63918711chr11:59622308ENST00000255681-311267_273172225RegionSubstrate binding
TgeneTCN1chr11:63918711chr11:59622308ENST00000257264-59142_146312434RegionNote=Cobalamin binding
TgeneTCN1chr11:63918711chr11:59622308ENST00000257264-59182_186312434RegionNote=Cobalamin binding
TgeneTCN1chr11:63918711chr11:59622308ENST00000257264-5924_310312434RegionNote=Globular N-terminal alpha domain


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FusionGeneSequence for MACROD1_TCN1


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_-_TCN1_ENST00000257264_chr11_59622308_-_294aa
MSLQSRLSGRLAQLRAAGQLLVPPRPRPGHLAGATRTRSSTCGPPAFLGVFGRRARTSAGVGAWGAAAVGRTAGVRTWAPLAMAAKVDLS
TSTDWKEAKSFLKGLSDKQREEHYFCKDFVRLKKIPTWKEMAKGVAVKVEEPRTKKDKQLNEKISLLRSDITKLEVDAIVNAGNFNISAD
EPITVTPPDSQSTISVNYSVRINETTFTNVTVLNGSVFLSVMEKAQKMNDTIFGFTMEERSWGPTITCIQGLCANNNDRTYWELLSGGEP


* Fusion transcript sequences (only coding sequence (CDS) region).
>In-frame_MACROD1_ENST00000255681_chr11_63918711_-_TCN1_ENST00000257264_chr11_59622308_-_882nt
ATGTCTCTACAGAGCCGACTGTCCGGCCGCCTGGCACAGCTGCGCGCGGCGGGGCAGCTGCTCGTCCCCCCGCGCCCCCGGCCCGGACAC
TTGGCGGGTGCCACGAGGACCCGCAGCAGCACGTGCGGTCCCCCGGCGTTCCTGGGCGTGTTCGGCCGCCGTGCGCGGACCTCGGCGGGA
GTTGGGGCGTGGGGGGCGGCGGCGGTGGGGCGGACAGCCGGGGTGCGCACTTGGGCCCCCCTGGCCATGGCGGCGAAGGTGGACCTGAGC
ACCTCCACCGACTGGAAGGAGGCGAAATCCTTTCTGAAGGGCCTGAGTGACAAGCAGCGGGAGGAACATTACTTCTGCAAGGACTTTGTC
AGGCTGAAGAAGATCCCGACATGGAAGGAGATGGCGAAAGGGGTGGCTGTGAAGGTGGAGGAGCCCAGGTATAAAAAGGACAAGCAGCTC
AATGAGAAAATCTCCCTGCTCCGCAGCGACATCACCAAGCTGGAGGTGGACGCCATCGTCAACGCCGGTAACTTCAACATCTCCGCTGAT
GAGCCTATAACTGTGACACCTCCTGACTCACAATCATATATCTCCGTCAATTACTCTGTGAGAATCAATGAAACATATTTCACCAATGTC
ACTGTGCTAAATGGTTCTGTCTTCCTCAGTGTGATGGAGAAAGCCCAGAAAATGAATGATACTATATTTGGTTTCACAATGGAGGAGCGC
TCATGGGGGCCCTATATCACCTGTATTCAGGGCCTATGTGCCAACAATAATGACAGAACCTACTGGGAACTTCTGAGTGGAGGCGAACCA


* Fusion transcript sequences (Full-length transcript).
>In-frame_MACROD1_ENST00000255681_chr11_63918711_-_TCN1_ENST00000257264_chr11_59622308_-_1124nt
GAGAGACACTCCCGAGCGCCGTAAATAGAGTCCAAGTGGGCGGAGAGCCGTCCCGCGCCGCCCGCTCATGTCTCTACAGAGCCGACTGTC
CGGCCGCCTGGCACAGCTGCGCGCGGCGGGGCAGCTGCTCGTCCCCCCGCGCCCCCGGCCCGGACACTTGGCGGGTGCCACGAGGACCCG
CAGCAGCACGTGCGGTCCCCCGGCGTTCCTGGGCGTGTTCGGCCGCCGTGCGCGGACCTCGGCGGGAGTTGGGGCGTGGGGGGCGGCGGC
GGTGGGGCGGACAGCCGGGGTGCGCACTTGGGCCCCCCTGGCCATGGCGGCGAAGGTGGACCTGAGCACCTCCACCGACTGGAAGGAGGC
GAAATCCTTTCTGAAGGGCCTGAGTGACAAGCAGCGGGAGGAACATTACTTCTGCAAGGACTTTGTCAGGCTGAAGAAGATCCCGACATG
GAAGGAGATGGCGAAAGGGGTGGCTGTGAAGGTGGAGGAGCCCAGGTATAAAAAGGACAAGCAGCTCAATGAGAAAATCTCCCTGCTCCG
CAGCGACATCACCAAGCTGGAGGTGGACGCCATCGTCAACGCCGGTAACTTCAACATCTCCGCTGATGAGCCTATAACTGTGACACCTCC
TGACTCACAATCATATATCTCCGTCAATTACTCTGTGAGAATCAATGAAACATATTTCACCAATGTCACTGTGCTAAATGGTTCTGTCTT
CCTCAGTGTGATGGAGAAAGCCCAGAAAATGAATGATACTATATTTGGTTTCACAATGGAGGAGCGCTCATGGGGGCCCTATATCACCTG
TATTCAGGGCCTATGTGCCAACAATAATGACAGAACCTACTGGGAACTTCTGAGTGGAGGCGAACCACTGAGCCAAGGAGCTGGTAGTTA
CGTTGTCCGCAATGGAGAAAACTTGGAGGTTCGCTGGAGCAAATACTAATAAGCCCAAACTTTCCTCAGCTGCATAAAATCCATTTGCAG
TGGAGTTCCATGTTTATTGTCCTTATGCCTTCTTCTTCATTTATCCCAGTACGAGCAGGAGAGTTAATAACCTCCCCTTCTCTCTCTACA


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FusionGenePPI for MACROD1_TCN1


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, DLDTCN1CBL, DDX31


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_TCN1


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.0 2018-04-02)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status
TgeneTCN1P20061DB00200HydroxocobalaminTranscobalamin-1small moleculeapproved

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RelatedDiseases for MACROD1_TCN1


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
TgeneTCN1C0002888Anemia, Megaloblastic1CTD_human