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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: 27780

FusionGeneSummary for PMEPA1_FAM83C

check button Fusion gene summary
Fusion gene informationFusion gene name: PMEPA1_FAM83C
Fusion gene ID: 27780
HgeneTgene
Gene symbol

PMEPA1

FAM83C

Gene ID

56937

128876

Gene nameprostate transmembrane protein, androgen induced 1family with sequence similarity 83 member C
SynonymsSTAG1|TMEPAIC20orf128|dJ614O4.7
Cytomap

20q13.31

20q11.22

Type of geneprotein-codingprotein-coding
Descriptionprotein TMEPAIsolid tumor-associated 1 proteintransmembrane, prostate androgen induced RNAprotein FAM83C
Modification date2018051920180519
UniProtAcc

Q969W9

Q9BQN1

Ensembl transtripts involved in fusion geneENST00000341744, ENST00000395816, 
ENST00000347215, ENST00000265626, 
ENST00000395814, ENST00000472841, 
ENST00000374408, 
Fusion gene scores* DoF score10 X 6 X 5=3002 X 1 X 2=4
# samples 92
** MAII scorelog2(9/300*10)=-1.73696559416621
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(2/4*10)=2.32192809488736
Context

PubMed: PMEPA1 [Title/Abstract] AND FAM83C [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
HgenePMEPA1

GO:0010991

negative regulation of SMAD protein complex assembly

20129061

HgenePMEPA1

GO:0030512

negative regulation of transforming growth factor beta receptor signaling pathway

24627487

HgenePMEPA1

GO:0060394

negative regulation of pathway-restricted SMAD protein phosphorylation

24627487


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
TCGALDBRCATCGA-B6-A0I9-01APMEPA1chr20

56284530

-FAM83Cchr20

33876761

-
* 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-frameENST00000341744ENST00000374408PMEPA1chr20

56284530

-FAM83Cchr20

33876761

-
intron-3CDSENST00000395816ENST00000374408PMEPA1chr20

56284530

-FAM83Cchr20

33876761

-
intron-3CDSENST00000347215ENST00000374408PMEPA1chr20

56284530

-FAM83Cchr20

33876761

-
intron-3CDSENST00000265626ENST00000374408PMEPA1chr20

56284530

-FAM83Cchr20

33876761

-
intron-3CDSENST00000395814ENST00000374408PMEPA1chr20

56284530

-FAM83Cchr20

33876761

-
intron-3CDSENST00000472841ENST00000374408PMEPA1chr20

56284530

-FAM83Cchr20

33876761

-

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FusionProtFeatures for PMEPA1_FAM83C


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
PMEPA1

Q969W9

FAM83C

Q9BQN1

Functions as a negative regulator of TGF-beta signalingand thereby probably plays a role in cell proliferation,differentiation, apoptosis, motility, extracellular matrixproduction and immunosuppression. In the canonical TGF-betapathway, ZFYVE9/SARA recruits the intracellular signal transducerand transcriptional modulators SMAD2 and SMAD3 to the TGF-betareceptor. Phosphorylated by the receptor, SMAD2 and SMAD3 thenform a heteromeric complex with SMAD4 that translocates to thenucleus to regulate transcription. Through interaction with SMAD2and SMAD3, LDLRAD4 may compete with ZFYVE9 and SMAD4 and preventpropagation of the intracellular signal (PubMed:20129061,PubMed:24627487). Also involved in down-regulation of the androgenreceptor (AR), enhancing ubiquitination and proteasome-mediateddegradation of AR, probably by recruiting NEDD4 (PubMed:18703514).{ECO:0000269|PubMed:18703514, ECO:0000269|PubMed:20129061,ECO:0000269|PubMed:24627487}. May play a role in MAPK signaling.{ECO:0000303|PubMed:24736947}.

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
HgenePMEPA1chr20:56284530chr20:33876761ENST00000265626-14158_161-68238MotifNote=PPxY motif 1
HgenePMEPA1chr20:56284530chr20:33876761ENST00000265626-14229_232-68238MotifNote=PPxY motif 2
HgenePMEPA1chr20:56284530chr20:33876761ENST00000341744-14158_16136288MotifNote=PPxY motif 1
HgenePMEPA1chr20:56284530chr20:33876761ENST00000341744-14229_23236288MotifNote=PPxY motif 2
HgenePMEPA1chr20:56284530chr20:33876761ENST00000347215-14158_161-42253MotifNote=PPxY motif 1
HgenePMEPA1chr20:56284530chr20:33876761ENST00000347215-14229_232-42253MotifNote=PPxY motif 2
HgenePMEPA1chr20:56284530chr20:33876761ENST00000395814-14158_161-24238MotifNote=PPxY motif 1
HgenePMEPA1chr20:56284530chr20:33876761ENST00000395814-14229_232-24238MotifNote=PPxY motif 2
HgenePMEPA1chr20:56284530chr20:33876761ENST00000395816-14158_161-48238MotifNote=PPxY motif 1
HgenePMEPA1chr20:56284530chr20:33876761ENST00000395816-14229_232-48238MotifNote=PPxY motif 2
HgenePMEPA1chr20:56284530chr20:33876761ENST00000265626-141_40-68238Topological domainLumenal
HgenePMEPA1chr20:56284530chr20:33876761ENST00000265626-1464_287-68238Topological domainCytoplasmic
HgenePMEPA1chr20:56284530chr20:33876761ENST00000341744-141_4036288Topological domainLumenal
HgenePMEPA1chr20:56284530chr20:33876761ENST00000341744-1464_28736288Topological domainCytoplasmic
HgenePMEPA1chr20:56284530chr20:33876761ENST00000347215-141_40-42253Topological domainLumenal
HgenePMEPA1chr20:56284530chr20:33876761ENST00000347215-1464_287-42253Topological domainCytoplasmic
HgenePMEPA1chr20:56284530chr20:33876761ENST00000395814-141_40-24238Topological domainLumenal
HgenePMEPA1chr20:56284530chr20:33876761ENST00000395814-1464_287-24238Topological domainCytoplasmic
HgenePMEPA1chr20:56284530chr20:33876761ENST00000395816-141_40-48238Topological domainLumenal
HgenePMEPA1chr20:56284530chr20:33876761ENST00000395816-1464_287-48238Topological domainCytoplasmic
HgenePMEPA1chr20:56284530chr20:33876761ENST00000265626-1441_63-68238TransmembraneHelical
HgenePMEPA1chr20:56284530chr20:33876761ENST00000341744-1441_6336288TransmembraneHelical
HgenePMEPA1chr20:56284530chr20:33876761ENST00000347215-1441_63-42253TransmembraneHelical
HgenePMEPA1chr20:56284530chr20:33876761ENST00000395814-1441_63-24238TransmembraneHelical
HgenePMEPA1chr20:56284530chr20:33876761ENST00000395816-1441_63-48238TransmembraneHelical


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FusionGeneSequence for PMEPA1_FAM83C


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_PMEPA1_ENST00000341744_chr20_56284530_-_FAM83C_ENST00000374408_chr20_33876761_-_613aa
MHRLMGVNSTAAAAAGQPNVSCTCNCKRSLFQSMEISGGCGDGHIHXHGASVXPHGGLKPAWCPCVPAPCPGAPEALPGDVLQDGPQWGA
PAEHACAEHVWGHILQQGWPPLHGAGPGEVRPHXLXASGGGQLQLHLALQPGPHXHGAAAEGPHRGRLXPGVPLSVRXVAACGGLLWRXG
PAVSPGTASSPCGPSLQAXCPKPHVVPALQHQPQQHQAVTAYGSLLLPRSTRRWXLQXYGCGVLVPGSCPPXGQWPALPTSPTVRPXPRL
PSWALXGQSRQARGIPMVPVLPCPQPXXYQPLNLGSGVTSASSLPAPPPVPSGCPSSVPVPREWAPRKPRAQPPAGSMGTWHNPGDSGGE
GEEGISKSEPWPAGSPCPLPQSPRSGRPXLWGYPQLRPPSAWRAGPRGQEVVPKPGRQPAGSPVPSPGYWGCPXVGFPQTWXSGPGGQEA
VPKPKPWPIRPPDAVPQGPGFQSAPXNQLLSQTCQTGTRXAAADPGAQPAGPHHKVRPIPWXGAWAQWSPDIKPCSHGWSWVWGXETANP


* Fusion transcript sequences (only coding sequence (CDS) region).
>In-frame_PMEPA1_ENST00000341744_chr20_56284530_-_FAM83C_ENST00000374408_chr20_33876761_-_1840nt
ATGCACCGCTTGATGGGGGTCAACAGCACCGCCGCCGCCGCCGCCGGGCAGCCCAATGTCTCCTGCACGTGCAACTGCAAACGCTCTTTG
TTCCAGAGCATGGAGATCAGTGGTGGCTGTGGTGATGGACATATTCACTGACATGGAGCTTCTGTGTGACCTCATGGAGGCCTCAAGCCG
GCGTGGTGTCCCTGTGTACCTGCTCCTTGCCCAGGAGCACCTGAGGCACTTCCTGGAGATGTGCTACAAGATGGACCTCAATGGGGAGCA
CCTGCCGAACATGCGTGTGCGGAGCACGTGTGGGGACACATACTGCAGCAAGGCTGGCCGCCGCTTCACGGGGCAGGCCCTGGAGAAGTT
CGTCCTCATTGACTGTGAGCAAGTGGTGGCGGGCAGTTACAGCTTCACCTGGCTTTGCAGCCAGGCCCACACTAGCATGGTGCTGCAGCT
GAGGGGCCGCATCGTGGAAGACTTTGACCGGGAGTTCCGCTGTCTGTACGCTGAGTCGCAGCCTGTGGAGGGCTTCTGTGGCGGTGAGGA
CCCGCTGTCTCCCCGGGCACTGCGTCCTCCCCCTGTGGCCCTAGCCTTCAGGCCTGATGTCCCAAGCCCCACGTCGTCCCTGCCCTCCAG
CACCAGCCTCAGCAGCATCAAGCAGTCACCGCTTATGGGTCGCTCCTCCTACCTCGCTCTACCAGGAGGTGGTGATTGCAGTGATACGGG
TGTGGTGTCCTCGTCCCTGGGTCCTGCCCGCCGTGAGGCCAGTGGCCAGCCCTCCCTACATCGCCAACTGTCAGACCCTAACCACGGCTC
CCCTCCTGGGCTCTATAGGGCCAATCTCGGCAAGCTAGGGGCATACCCATGGTCCCAGTCCTCCCCTGCCCTCAACCATAATAGTACCAG
CCCCTTAACCTTGGCAGTGGGGTCACCTCTGCTTCCTCGCTCCCGGCCCCTCCTCCAGTTCCATCGGGGTGCCCCAGCTCTGTCCCGGTT
CCCAGAGAATGGGCTCCCAGGAAGCCAAGAGCCCAGCCCCCTGCGGGGTCGATGGGTACCTGGCACAACCCTGGAGACAGTGGAGGAGAA
GGAGAAGAAGGCATCTCCAAGTCAGAGCCGTGGCCAGCTGGATCTCCTTGTCCCCTTCCCCAGAGCCCGAGAAGTGGGAGACCCTGACTC
TGGGGTTACCCCCAACTCAGGCCCCCTTCGGCCTGGCGAGCAGGCCCCAGAGGACAGGAGGTTGTCCCCAAGCCAGGCCGACAGCCAGCT
GGATCTCCTGTCCCGAGCCCTGGGTACTGGGGGTGCCCCTGAGTTGGGTTCCCTCAGACCTGGTGATCGGGCCCTGGAGGACAGGAGGCT
GTCCCTAAACCAAAGCCGTGGCCAATCAGACCTCCTGATGCAGTACCCCAAGGCCCAGGGTTCCAGAGTGCCCCTTGAAACCAACTCCTC
AGCCAGACCTGCCAGACGGGCACCAGATGAGCGGCGGCAGACCCTGGGGCACAGCCAGCTGGACCTCATCACAAAGTTCGGCCCATTCCG
TGGTGAGGGGCCTGGGCCCAATGGTCTCCCGATATCAAGCCCTGCTCGCACGGCTGGAGCTGGGTCTGGGGATGAGAAACGGCTAACCCT
GGGCCACAGCAAGCTGGACCTCATCACCAAGTATCATCAGTTGCACGGGGCCAGGCAGGGAACTGAGCCTGGGGGTCCCAAGGGTGGCCA
TCTCAATGGTGGTAACAGTGACCTGGTCAGGGATGAGAAACGGCTGACCCTGGGTCACAGCAAACTGGACCTCATCACTAAGTACAACAA


* Fusion transcript sequences (Full-length transcript).
>In-frame_PMEPA1_ENST00000341744_chr20_56284530_-_FAM83C_ENST00000374408_chr20_33876761_-_2964nt
GGAAAGCTAGCGGCAGAGGCTCAGCCCCGGCGGCAGCGCGCGCCCCGCTGCCAGCCCATTTTCCGGACGCCACCCGCGGGCACTGCCGAC
GCCCCCGGGGCTGCCGAGGGGAGGCCGGGGGGGCGCAGCGGAGCGCGGTCCCGCGCACTGAGCCCCGCGGCGCCCCGGGAACTTGGCGGC
GACCCGAGCCCGGCGAGCCGGGGCGCGCCTCCCCCGCCGCGCGCCTCCTGCATGCGGGGCCCCAGCTCCGGGCGCCGGCCGGAGCCCCCC
CCGGCCGCCCCCGAGCCCCCCGCGCCCCGCGCCGCGCCGCCGCGCCGTCCATGCACCGCTTGATGGGGGTCAACAGCACCGCCGCCGCCG
CCGCCGGGCAGCCCAATGTCTCCTGCACGTGCAACTGCAAACGCTCTTTGTTCCAGAGCATGGAGATCAGTGGTGGCTGTGGTGATGGAC
ATATTCACTGACATGGAGCTTCTGTGTGACCTCATGGAGGCCTCAAGCCGGCGTGGTGTCCCTGTGTACCTGCTCCTTGCCCAGGAGCAC
CTGAGGCACTTCCTGGAGATGTGCTACAAGATGGACCTCAATGGGGAGCACCTGCCGAACATGCGTGTGCGGAGCACGTGTGGGGACACA
TACTGCAGCAAGGCTGGCCGCCGCTTCACGGGGCAGGCCCTGGAGAAGTTCGTCCTCATTGACTGTGAGCAAGTGGTGGCGGGCAGTTAC
AGCTTCACCTGGCTTTGCAGCCAGGCCCACACTAGCATGGTGCTGCAGCTGAGGGGCCGCATCGTGGAAGACTTTGACCGGGAGTTCCGC
TGTCTGTACGCTGAGTCGCAGCCTGTGGAGGGCTTCTGTGGCGGTGAGGACCCGCTGTCTCCCCGGGCACTGCGTCCTCCCCCTGTGGCC
CTAGCCTTCAGGCCTGATGTCCCAAGCCCCACGTCGTCCCTGCCCTCCAGCACCAGCCTCAGCAGCATCAAGCAGTCACCGCTTATGGGT
CGCTCCTCCTACCTCGCTCTACCAGGAGGTGGTGATTGCAGTGATACGGGTGTGGTGTCCTCGTCCCTGGGTCCTGCCCGCCGTGAGGCC
AGTGGCCAGCCCTCCCTACATCGCCAACTGTCAGACCCTAACCACGGCTCCCCTCCTGGGCTCTATAGGGCCAATCTCGGCAAGCTAGGG
GCATACCCATGGTCCCAGTCCTCCCCTGCCCTCAACCATAATAGTACCAGCCCCTTAACCTTGGCAGTGGGGTCACCTCTGCTTCCTCGC
TCCCGGCCCCTCCTCCAGTTCCATCGGGGTGCCCCAGCTCTGTCCCGGTTCCCAGAGAATGGGCTCCCAGGAAGCCAAGAGCCCAGCCCC
CTGCGGGGTCGATGGGTACCTGGCACAACCCTGGAGACAGTGGAGGAGAAGGAGAAGAAGGCATCTCCAAGTCAGAGCCGTGGCCAGCTG
GATCTCCTTGTCCCCTTCCCCAGAGCCCGAGAAGTGGGAGACCCTGACTCTGGGGTTACCCCCAACTCAGGCCCCCTTCGGCCTGGCGAG
CAGGCCCCAGAGGACAGGAGGTTGTCCCCAAGCCAGGCCGACAGCCAGCTGGATCTCCTGTCCCGAGCCCTGGGTACTGGGGGTGCCCCT
GAGTTGGGTTCCCTCAGACCTGGTGATCGGGCCCTGGAGGACAGGAGGCTGTCCCTAAACCAAAGCCGTGGCCAATCAGACCTCCTGATG
CAGTACCCCAAGGCCCAGGGTTCCAGAGTGCCCCTTGAAACCAACTCCTCAGCCAGACCTGCCAGACGGGCACCAGATGAGCGGCGGCAG
ACCCTGGGGCACAGCCAGCTGGACCTCATCACAAAGTTCGGCCCATTCCGTGGTGAGGGGCCTGGGCCCAATGGTCTCCCGATATCAAGC
CCTGCTCGCACGGCTGGAGCTGGGTCTGGGGATGAGAAACGGCTAACCCTGGGCCACAGCAAGCTGGACCTCATCACCAAGTATCATCAG
TTGCACGGGGCCAGGCAGGGAACTGAGCCTGGGGGTCCCAAGGGTGGCCATCTCAATGGTGGTAACAGTGACCTGGTCAGGGATGAGAAA
CGGCTGACCCTGGGTCACAGCAAACTGGACCTCATCACTAAGTACAACAAGTCCAAGTTCAAGCAGCTCCGAAGCCGCTTTGAGTCCTAG
CCAAAGGACTGGCATCGGGGGTGCACTGGCAAGGGCAGGCCCCTCCTCTGTCCACCGAGACTCTGGACTTGCTCAGGTCCCAGACTGGGG
AAGGGAGGTGTCTAGAAACCCAGGTCAGACACACTCTCTGGGCTCAAGATTCTTGTGTACACACACACACACACACACACACACACACAC
CCTAACTAGTATCTTCTTGAATCTAGGCTGTGTTTCCAGCCCTGTGCTGGGCCTGTAGAGCTGACAGGTGGGTCACACTCAGACCTGGGG
ACAGAGGTGAAATGCACAAGCTGCTGGAGAAGGGGTCAGAGCCATATCAAGTTAAAGGTTAACCAGTTACAGAGGGTGTTAGAAAACAAA
GGGCAGAGAGTCCTGGAGAAGGTGGAGTAGTCAGAAAACTTTCTTAGAGGAGATGGAGGTGGCCTTTGAGCCAGGCCCTGAAGGATGGGG
AGGTTTTGGACAGAGGGAGGAGAGAGTTAGAAAAATTTTTGGTAGAGAGAATCAGGTGAAAGAGATGCCCTAAAGAGGACTGAGTGGGTC
TGAGGTGAATGAGTGAGGAAGAGCAGAGTATGTGGATACCCGGAAACACACACACACACACATCATCATTATCATCATCATCATTGTCGT
CGTCATCATCTTGCTGAGTCATCATCATCATCATCATCATTGTCGTCGTCATCATCTTGCTGAGTGTCTCTTGAAGTACAGGCTGTGACA


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FusionGenePPI for PMEPA1_FAM83C


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
PMEPA1NEDD4, AR, CAND1, UBQLN4, HGS, STAM, DCTN6, DCTN5, TRIM25FAM83CAPOA1


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 PMEPA1_FAM83C


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 PMEPA1_FAM83C


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgenePMEPA1C0023893Liver Cirrhosis, Experimental1CTD_human