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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: 12652

FusionGeneSummary for FAM172A_ERAP2

check button Fusion gene summary
Fusion gene informationFusion gene name: FAM172A_ERAP2
Fusion gene ID: 12652
HgeneTgene
Gene symbol

FAM172A

ERAP2

Gene ID

83989

64167

Gene namefamily with sequence similarity 172 member Aendoplasmic reticulum aminopeptidase 2
SynonymsC5orf21L-RAP|LRAP
Cytomap

5q15

5q15

Type of geneprotein-codingprotein-coding
Descriptionprotein FAM172Aendoplasmic reticulum aminopeptidase 2leukocyte-derived arginine aminopeptidase
Modification date2018052320180523
UniProtAcc

Q8WUF8

Q6P179

Ensembl transtripts involved in fusion geneENST00000395965, ENST00000505869, 
ENST00000509739, ENST00000509163, 
ENST00000504768, 		ENST00000437043, 
ENST00000379904, ENST00000510309, 
ENST00000515095, 
Fusion gene scores* DoF score8 X 6 X 5=2402 X 2 X 2=8
# samples 82
** MAII scorelog2(8/240*10)=-1.58496250072116
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(2/8*10)=1.32192809488736
Context

PubMed: FAM172A [Title/Abstract] AND ERAP2 [Title/Abstract] AND fusion [Title/Abstract]

Functional or gene categories assigned by FusionGDB annotationTumor suppressor gene involved fusion gene, retained protein feature but frameshift.
DDR (DNA damage repair) gene involved fusion gene, in-frame but not retained their domain.
* 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
TCGARVKIRCTCGA-BP-5004-01AFAM172Achr5

93386436

-ERAP2chr5

96251392

+
* 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-shiftENST00000395965ENST00000437043FAM172Achr5

93386436

-ERAP2chr5

96251392

+
Frame-shiftENST00000395965ENST00000379904FAM172Achr5

93386436

-ERAP2chr5

96251392

+
5CDS-intronENST00000395965ENST00000510309FAM172Achr5

93386436

-ERAP2chr5

96251392

+
5CDS-intronENST00000395965ENST00000515095FAM172Achr5

93386436

-ERAP2chr5

96251392

+
Frame-shiftENST00000505869ENST00000437043FAM172Achr5

93386436

-ERAP2chr5

96251392

+
Frame-shiftENST00000505869ENST00000379904FAM172Achr5

93386436

-ERAP2chr5

96251392

+
5CDS-intronENST00000505869ENST00000510309FAM172Achr5

93386436

-ERAP2chr5

96251392

+
5CDS-intronENST00000505869ENST00000515095FAM172Achr5

93386436

-ERAP2chr5

96251392

+
intron-3CDSENST00000509739ENST00000437043FAM172Achr5

93386436

-ERAP2chr5

96251392

+
intron-3CDSENST00000509739ENST00000379904FAM172Achr5

93386436

-ERAP2chr5

96251392

+
intron-intronENST00000509739ENST00000510309FAM172Achr5

93386436

-ERAP2chr5

96251392

+
intron-intronENST00000509739ENST00000515095FAM172Achr5

93386436

-ERAP2chr5

96251392

+
Frame-shiftENST00000509163ENST00000437043FAM172Achr5

93386436

-ERAP2chr5

96251392

+
Frame-shiftENST00000509163ENST00000379904FAM172Achr5

93386436

-ERAP2chr5

96251392

+
5CDS-intronENST00000509163ENST00000510309FAM172Achr5

93386436

-ERAP2chr5

96251392

+
5CDS-intronENST00000509163ENST00000515095FAM172Achr5

93386436

-ERAP2chr5

96251392

+
5UTR-3CDSENST00000504768ENST00000437043FAM172Achr5

93386436

-ERAP2chr5

96251392

+
5UTR-3CDSENST00000504768ENST00000379904FAM172Achr5

93386436

-ERAP2chr5

96251392

+
5UTR-intronENST00000504768ENST00000510309FAM172Achr5

93386436

-ERAP2chr5

96251392

+
5UTR-intronENST00000504768ENST00000515095FAM172Achr5

93386436

-ERAP2chr5

96251392

+

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FusionProtFeatures for FAM172A_ERAP2


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
FAM172A

Q8WUF8

ERAP2

Q6P179

Aminopeptidase that plays a central role in peptidetrimming, a step required for the generation of most HLA class I-binding peptides. Peptide trimming is essential to customizelonger precursor peptides to fit them to the correct lengthrequired for presentation on MHC class I molecules. Preferentiallyhydrolyzes the basic residues Arg and Lys.{ECO:0000269|PubMed:12799365, ECO:0000269|PubMed:15908954,ECO:0000269|PubMed:16286653}.

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 FAM172A_ERAP2


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 FAM172A_ERAP2


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
FAM172AELAVL1, FGL1, SMU1, STYX, ZNF331, ATP5D, KIR3DL2, DEFB1ERAP2TCTN1


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 FAM172A_ERAP2


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 FAM172A_ERAP2


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
TgeneERAP2C0010346Crohn Disease1CTD_human