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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: 20693

FusionGeneSummary for MAMDC2_MRPS28

check button Fusion gene summary
Fusion gene informationFusion gene name: MAMDC2_MRPS28
Fusion gene ID: 20693
HgeneTgene
Gene symbol

MAMDC2

MRPS28

Gene ID

256691

60488

Gene nameMAM domain containing 2mitochondrial ribosomal protein S35
Synonyms-HDCMD11P|MDS023|MRP-S28|MRPS28
Cytomap

9q21.12

12p11.22

Type of geneprotein-codingprotein-coding
DescriptionMAM domain-containing protein 2MAM domain-containing proteoglycanmamcan28S ribosomal protein S35, mitochondrial28S ribosomal protein S28, mitochondrialMRP-S35S28mtS35mtmitochondrial ribosomal protein S28mitochondrial small ribosomal subunit protein mS35
Modification date2018052220180523
UniProtAcc

Q7Z304

Q9Y2Q9

Ensembl transtripts involved in fusion geneENST00000377182, ENST00000460688, 
ENST00000276585, ENST00000521434, 
ENST00000521605, ENST00000522987, 
Fusion gene scores* DoF score2 X 1 X 1=22 X 1 X 2=4
# samples 12
** MAII scorelog2(1/2*10)=2.32192809488736log2(2/4*10)=2.32192809488736
Context

PubMed: MAMDC2 [Title/Abstract] AND MRPS28 [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
TCGARVHNSCTCGA-BA-6868-01BMAMDC2chr9

72746528

+MRPS28chr8

80831383

-
* 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-shiftENST00000377182ENST00000276585MAMDC2chr9

72746528

+MRPS28chr8

80831383

-
In-frameENST00000377182ENST00000521434MAMDC2chr9

72746528

+MRPS28chr8

80831383

-
Frame-shiftENST00000377182ENST00000521605MAMDC2chr9

72746528

+MRPS28chr8

80831383

-
5CDS-intronENST00000377182ENST00000522987MAMDC2chr9

72746528

+MRPS28chr8

80831383

-
intron-3CDSENST00000460688ENST00000276585MAMDC2chr9

72746528

+MRPS28chr8

80831383

-
intron-3CDSENST00000460688ENST00000521434MAMDC2chr9

72746528

+MRPS28chr8

80831383

-
intron-3CDSENST00000460688ENST00000521605MAMDC2chr9

72746528

+MRPS28chr8

80831383

-
intron-intronENST00000460688ENST00000522987MAMDC2chr9

72746528

+MRPS28chr8

80831383

-

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FusionProtFeatures for MAMDC2_MRPS28


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
MAMDC2

Q7Z304

MRPS28

Q9Y2Q9


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 MAMDC2_MRPS28


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_MAMDC2_ENST00000377182_chr9_72746528_+_MRPS28_ENST00000521434_chr8_80831383_-_387aa
MLLRGVLLALQALQLAGALDLPAGSCAFEESTCGFDSVLASLPWILNEEGHYIYVDTSFGKQGEKAVLLSPDLQAEEWSCLRLVYQITTS
SESLSDPSQLNLYMRFEDESFDRLLWSAKEPSDSWLIASLDLQNSSKKFKILIEGVLGQGNTASIALFEIKMTTGYCIECDFEENHLCGF
VNRWNPNVNWFVGGGSIRNVHSILPQDHTFKSELGHYMYVDSVYVKHFQEVAQLISPLTTAPMAGCLSFYYQIQQGNDNVFSLYTRDVAG
LYEEIWKADRPGNAAWNLAEVEFSAPYPMEVIFEVAFNGPKGGYVALDDISFSPVHCQNQTGNTRKEPGSGCGYXILNLRLGSWEQQQIQ


* Fusion transcript sequences (only coding sequence (CDS) region).
>In-frame_MAMDC2_ENST00000377182_chr9_72746528_+_MRPS28_ENST00000521434_chr8_80831383_-_1163nt
ATGCTGTTAAGGGGCGTCCTCCTGGCGTTGCAAGCCCTGCAGCTCGCCGGTGCCCTCGACCTGCCCGCTGGGTCCTGTGCCTTTGAAGAG
AGCACTTGCGGCTTTGACTCCGTGTTGGCCTCTCTGCCGTGGATTTTAAATGAGGAAGGCCATTACATTTATGTGGATACCTCCTTTGGC
AAGCAGGGGGAGAAAGCTGTGCTGCTAAGTCCTGACTTACAGGCTGAGGAATGGAGCTGCCTCCGTTTGGTCTACCAGATAACCACATCT
TCGGAGTCTCTGTCAGATCCCAGCCAGCTGAACCTCTACATGAGATTTGAAGATGAAAGCTTTGATCGCTTGCTTTGGTCAGCTAAGGAA
CCTTCAGACAGCTGGCTCATAGCCAGCTTGGATTTGCAAAACAGTTCCAAGAAATTCAAGATTTTAATAGAAGGTGTACTAGGACAGGGA
AACACAGCCAGCATCGCACTATTTGAAATCAAGATGACAACCGGCTACTGTATTGAATGTGACTTTGAAGAAAATCATCTCTGTGGCTTT
GTGAACCGCTGGAATCCCAATGTGAACTGGTTTGTTGGAGGAGGAAGTATTCGGAATGTCCACTCCATTCTCCCACAGGATCACACCTTC
AAGAGTGAACTGGGCCACTACATGTACGTGGACTCAGTTTATGTGAAGCACTTCCAGGAGGTGGCACAGCTCATCTCCCCGTTGACCACG
GCCCCCATGGCTGGCTGCCTGTCATTTTATTACCAGATCCAGCAGGGGAATGACAATGTCTTTTCCCTTTACACTCGGGATGTGGCTGGC
CTTTACGAGGAAATCTGGAAAGCAGACAGGCCAGGGAATGCTGCCTGGAACCTTGCGGAGGTCGAGTTCAGTGCTCCTTACCCCATGGAG
GTTATTTTTGAAGTTGCTTTCAATGGTCCCAAGGGAGGTTATGTTGCCCTGGATGATATTTCATTCTCTCCTGTTCACTGCCAGAATCAG
ACAGGAAATACCAGAAAGGAACCAGGGTCCGGTTGCGGCTATTAGATCTTGAACTTACGTCTAGGTTCCTGGGAGCAACAACAGATACAA


* Fusion transcript sequences (Full-length transcript).
>In-frame_MAMDC2_ENST00000377182_chr9_72746528_+_MRPS28_ENST00000521434_chr8_80831383_-_1820nt
AAATTTTCCTCCAGGCTGTCCTTGGAGAATTCCACCCTCTTTCATTCTGGGGAGAAGAAGTTAAAATTAGGGCCAGCCCTGCGGGACTGA
CATGCCAGATGCAGGGAAGCTGTCCCCAGAAATAAGCGAGTTCCCACCGCGGCTGGGCGGGGCGGGAGCCTCGGGTCCCAACCCAGCGGA
GGGACTCCTGGAAGGCCTGCCCCTTCCAAGTGTCTGCAAGGGCTCTGGTCCCAAGCTTTAAAATCCTGAGCGAAGGCACTGCGGGCCGAC
CTCTCCTCTCCCAGCCAGTCGTGGCTGGCCTTTCAAAGTGTGCAGTTGTCTCCTCCCTGTCCAGCCCCATCGTCGCCCAGGACCAGCTGG
GCCGCGGTCTGACCTGAGGCTGCTGCTCAGCGCCGGGGCGCTGGCGCTCTCCATTCGAGCACCTTCCAGCATACCGCTCGGCTCCGGGAG
CCGCTCTGCAAAGTTGGGCAGCTCAGAGCGCAAGCTTTGCCTCTCGACTTCTCCCTCCTTGGGTCCCCGGCGCCCCCGCCTCCCACGATC
CCTTTCACTAGGAGCAGCCAGTCCCAGCGGGCTGGCAACTTGCACCCCTTCCTAGTCATCCTCCCTGAAACGCGACCATGCTGTTAAGGG
GCGTCCTCCTGGCGTTGCAAGCCCTGCAGCTCGCCGGTGCCCTCGACCTGCCCGCTGGGTCCTGTGCCTTTGAAGAGAGCACTTGCGGCT
TTGACTCCGTGTTGGCCTCTCTGCCGTGGATTTTAAATGAGGAAGGCCATTACATTTATGTGGATACCTCCTTTGGCAAGCAGGGGGAGA
AAGCTGTGCTGCTAAGTCCTGACTTACAGGCTGAGGAATGGAGCTGCCTCCGTTTGGTCTACCAGATAACCACATCTTCGGAGTCTCTGT
CAGATCCCAGCCAGCTGAACCTCTACATGAGATTTGAAGATGAAAGCTTTGATCGCTTGCTTTGGTCAGCTAAGGAACCTTCAGACAGCT
GGCTCATAGCCAGCTTGGATTTGCAAAACAGTTCCAAGAAATTCAAGATTTTAATAGAAGGTGTACTAGGACAGGGAAACACAGCCAGCA
TCGCACTATTTGAAATCAAGATGACAACCGGCTACTGTATTGAATGTGACTTTGAAGAAAATCATCTCTGTGGCTTTGTGAACCGCTGGA
ATCCCAATGTGAACTGGTTTGTTGGAGGAGGAAGTATTCGGAATGTCCACTCCATTCTCCCACAGGATCACACCTTCAAGAGTGAACTGG
GCCACTACATGTACGTGGACTCAGTTTATGTGAAGCACTTCCAGGAGGTGGCACAGCTCATCTCCCCGTTGACCACGGCCCCCATGGCTG
GCTGCCTGTCATTTTATTACCAGATCCAGCAGGGGAATGACAATGTCTTTTCCCTTTACACTCGGGATGTGGCTGGCCTTTACGAGGAAA
TCTGGAAAGCAGACAGGCCAGGGAATGCTGCCTGGAACCTTGCGGAGGTCGAGTTCAGTGCTCCTTACCCCATGGAGGTTATTTTTGAAG
TTGCTTTCAATGGTCCCAAGGGAGGTTATGTTGCCCTGGATGATATTTCATTCTCTCCTGTTCACTGCCAGAATCAGACAGGAAATACCA
GAAAGGAACCAGGGTCCGGTTGCGGCTATTAGATCTTGAACTTACGTCTAGGTTCCTGGGAGCAACAACAGATACAACTGTACTAGAGGC
TAATGCAGTTCTCTTGGGAATCCAGGAGAGTAAAGACTCAAGATCGAAAGAAGAACATCATGAAAAATAAATGAACTTTGCTTAGTGGAT


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FusionGenePPI for MAMDC2_MRPS28


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
MAMDC2EIF4G1, RNASEH2A, TK1, TAB1, CDAN1MRPS28ICT1, CAND1, MRPL32, MRPL13, MRPL53, MRPL41, MRPS26, MRPS9, MRPL12, MRPS18B, MRPL42, SCP2, CDV3, SRPRB, TIAL1, HNRNPU, ILF2, NDUFA7, NPC1, NDUFB6, HNRNPM, RBM27, RPS28, HNRNPR, SLC25A10, PQBP1, NDUFB9, RPS19, MDH2, ABCC2, SYNCRIP, FN1, C1QBP, PARK2, GRSF1, TP53, TUBGCP3, FBXW11, MRPS2, TRMT10B, MRPS31, HNRNPA1, MRPS22, MRPS27, DAP3, PTCD3, HIST1H3E, ERBB3, ZNF746, CDC14B, PTP4A1, MRPS34, MRPS15, MRPS11, RBM3, CFAP20


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 MAMDC2_MRPS28


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 MAMDC2_MRPS28


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
TgeneMRPS28C1458155Mammary Neoplasms1CTD_human