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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: 25794

FusionGeneSummary for PAH_METAP2

check button Fusion gene summary
Fusion gene informationFusion gene name: PAH_METAP2
Fusion gene ID: 25794
HgeneTgene
Gene symbol

PAH

METAP2

Gene ID

5053

10988

Gene namephenylalanine hydroxylasemethionyl aminopeptidase 2
SynonymsPH|PKU|PKU1MAP2|MNPEP|p67eIF2
Cytomap

12q23.2

12q22

Type of geneprotein-codingprotein-coding
Descriptionphenylalanine-4-hydroxylasephe-4-monooxygenasephenylalanine 4-monooxygenasemethionine aminopeptidase 2eIF-2-associated p67 homologinitiation factor 2-associated 67 kDa glycoproteinpeptidase M 2testicular tissue protein Li 17
Modification date2018051920180519
UniProtAcc

P00439

P50579

Ensembl transtripts involved in fusion geneENST00000553106, ENST00000307000, 
ENST00000551988, 
ENST00000323666, 
ENST00000546753, ENST00000261220, 
ENST00000550777, ENST00000551840, 
Fusion gene scores* DoF score2 X 2 X 2=83 X 3 X 2=18
# samples 23
** MAII scorelog2(2/8*10)=1.32192809488736log2(3/18*10)=0.736965594166206
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
Context

PubMed: PAH [Title/Abstract] AND METAP2 [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
TgeneMETAP2

GO:0016485

protein processing

8858118

TgeneMETAP2

GO:0018206

peptidyl-methionine modification

8858118

TgeneMETAP2

GO:0031365

N-terminal protein amino acid modification

8858118


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
TCGARVACCTCGA-OR-A5JA-01APAHchr12

103288513

-METAP2chr12

95906577

+
* 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-shiftENST00000553106ENST00000323666PAHchr12

103288513

-METAP2chr12

95906577

+
Frame-shiftENST00000553106ENST00000546753PAHchr12

103288513

-METAP2chr12

95906577

+
Frame-shiftENST00000553106ENST00000261220PAHchr12

103288513

-METAP2chr12

95906577

+
Frame-shiftENST00000553106ENST00000550777PAHchr12

103288513

-METAP2chr12

95906577

+
Frame-shiftENST00000553106ENST00000551840PAHchr12

103288513

-METAP2chr12

95906577

+
Frame-shiftENST00000307000ENST00000323666PAHchr12

103288513

-METAP2chr12

95906577

+
Frame-shiftENST00000307000ENST00000546753PAHchr12

103288513

-METAP2chr12

95906577

+
Frame-shiftENST00000307000ENST00000261220PAHchr12

103288513

-METAP2chr12

95906577

+
Frame-shiftENST00000307000ENST00000550777PAHchr12

103288513

-METAP2chr12

95906577

+
Frame-shiftENST00000307000ENST00000551840PAHchr12

103288513

-METAP2chr12

95906577

+
5UTR-3CDSENST00000551988ENST00000323666PAHchr12

103288513

-METAP2chr12

95906577

+
5UTR-3CDSENST00000551988ENST00000546753PAHchr12

103288513

-METAP2chr12

95906577

+
5UTR-3CDSENST00000551988ENST00000261220PAHchr12

103288513

-METAP2chr12

95906577

+
5UTR-3CDSENST00000551988ENST00000550777PAHchr12

103288513

-METAP2chr12

95906577

+
5UTR-3CDSENST00000551988ENST00000551840PAHchr12

103288513

-METAP2chr12

95906577

+

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FusionProtFeatures for PAH_METAP2


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

P00439

METAP2

P50579

Cotranslationally removes the N-terminal methionine fromnascent proteins. The N-terminal methionine is often cleaved whenthe second residue in the primary sequence is small and uncharged(Met-Ala-, Cys, Gly, Pro, Ser, Thr, or Val). The catalyticactivity of human METAP2 toward Met-Val peptides is consistentlytwo orders of magnitude higher than that of METAP1, suggestingthat it is responsible for processing proteins containing N-terminal Met-Val and Met-Thr sequences in vivo. Protects eukaryotic initiation factor EIF2S1 fromtranslation-inhibiting phosphorylation by inhibitory kinases suchas EIF2AK2/PKR and EIF2AK1/HCR. Plays a critical role in theregulation of protein synthesis.

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 PAH_METAP2


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 PAH_METAP2


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
PAHPAH, QDPR, PCBD1, RPS24METAP2EIF2AK2, CALM1, APP, EEF2K, MTOR, HMGA1, DAK, GAPDH, GBP1, NPEPPS, C1QB, BSG, OTUD6B, C1QTNF9, GNAS, LPPR2, ACTL6A, TEKT2, PLIN5, CHD3, NTRK1, KRAS, XPO1, YWHAE, SUCLA2, GPBP1L1, TMEM213, DDX28, CCT7, SLC25A25, LILRB3, ASB6, FCRL2, CCT3, RGS2, TMEM108, MRPL35, MECP2, CUL5, PVR, DLK2, TMEM194A, SUN2, TNFRSF19, GRIA3, TRIM25


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 PAH_METAP2


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.0 2018-04-02)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status
HgenePAHP00439DB00368NorepinephrinePhenylalanine-4-hydroxylasesmall moleculeapproved
HgenePAHP00439DB00360SapropterinPhenylalanine-4-hydroxylasesmall moleculeapproved|investigational
HgenePAHP00439DB06262DroxidopaPhenylalanine-4-hydroxylasesmall moleculeapproved|investigational
HgenePAHP00439DB00668EpinephrinePhenylalanine-4-hydroxylasesmall moleculeapproved|vet_approved
TgeneMETAP2P50579DB01422NitroxolineMethionine aminopeptidase 2 {ECO:0000255|HAMAP-Rule:MF_03175}small moleculeapproved
TgeneMETAP2P50579DB00134MethionineMethionine aminopeptidase 2 {ECO:0000255|HAMAP-Rule:MF_03175}small moleculeapproved|nutraceutical

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RelatedDiseases for PAH_METAP2


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgenePAHC0751434Classical phenylketonuria29HPO;ORPHANET;UNIPROT
HgenePAHC0036341Schizophrenia2PSYGENET
HgenePAHC0005586Bipolar Disorder1PSYGENET
HgenePAHC0033975Psychotic Disorders1HPO;PSYGENET