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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: 28182

FusionGeneSummary for PPHLN1_EHBP1

check button Fusion gene summary
Fusion gene informationFusion gene name: PPHLN1_EHBP1
Fusion gene ID: 28182
HgeneTgene
Gene symbol

PPHLN1

EHBP1

Gene ID

51535

23301

Gene nameperiphilin 1EH domain binding protein 1
SynonymsCR|HSPC206|HSPC232HPC12|NACSIN
Cytomap

12q12

2p15

Type of geneprotein-codingprotein-coding
Descriptionperiphilin-1CDC7 expression repressorgastric cancer antigen Ga50EH domain-binding protein 1NPF calponin-like proteintestis tissue sperm-binding protein Li 50e
Modification date2018051920180519
UniProtAcc

Q8NEY8

Q8NDI1

Ensembl transtripts involved in fusion geneENST00000549190, ENST00000395580, 
ENST00000337898, ENST00000358314, 
ENST00000395568, ENST00000256678, 
ENST00000449194, ENST00000552761, 
ENST00000317560, ENST00000432191, 
ENST00000550535, 
ENST00000405015, 
ENST00000431489, ENST00000354487, 
ENST00000263991, ENST00000405289, 
ENST00000496857, 
Fusion gene scores* DoF score6 X 7 X 3=1267 X 7 X 5=245
# samples 77
** MAII scorelog2(7/126*10)=-0.84799690655495
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(7/245*10)=-1.8073549220576
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: PPHLN1 [Title/Abstract] AND EHBP1 [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
ChiTaRS3.1AW366752PPHLN1chr12

42841429

-EHBP1chr2

63272766

-
* 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
intron-intronENST00000549190ENST00000405015PPHLN1chr12

42841429

-EHBP1chr2

63272766

-
intron-3UTRENST00000549190ENST00000431489PPHLN1chr12

42841429

-EHBP1chr2

63272766

-
intron-3UTRENST00000549190ENST00000354487PPHLN1chr12

42841429

-EHBP1chr2

63272766

-
intron-3UTRENST00000549190ENST00000263991PPHLN1chr12

42841429

-EHBP1chr2

63272766

-
intron-intronENST00000549190ENST00000405289PPHLN1chr12

42841429

-EHBP1chr2

63272766

-
intron-3UTRENST00000549190ENST00000496857PPHLN1chr12

42841429

-EHBP1chr2

63272766

-
intron-intronENST00000395580ENST00000405015PPHLN1chr12

42841429

-EHBP1chr2

63272766

-
intron-3UTRENST00000395580ENST00000431489PPHLN1chr12

42841429

-EHBP1chr2

63272766

-
intron-3UTRENST00000395580ENST00000354487PPHLN1chr12

42841429

-EHBP1chr2

63272766

-
intron-3UTRENST00000395580ENST00000263991PPHLN1chr12

42841429

-EHBP1chr2

63272766

-
intron-intronENST00000395580ENST00000405289PPHLN1chr12

42841429

-EHBP1chr2

63272766

-
intron-3UTRENST00000395580ENST00000496857PPHLN1chr12

42841429

-EHBP1chr2

63272766

-
intron-intronENST00000337898ENST00000405015PPHLN1chr12

42841429

-EHBP1chr2

63272766

-
intron-3UTRENST00000337898ENST00000431489PPHLN1chr12

42841429

-EHBP1chr2

63272766

-
intron-3UTRENST00000337898ENST00000354487PPHLN1chr12

42841429

-EHBP1chr2

63272766

-
intron-3UTRENST00000337898ENST00000263991PPHLN1chr12

42841429

-EHBP1chr2

63272766

-
intron-intronENST00000337898ENST00000405289PPHLN1chr12

42841429

-EHBP1chr2

63272766

-
intron-3UTRENST00000337898ENST00000496857PPHLN1chr12

42841429

-EHBP1chr2

63272766

-
intron-intronENST00000358314ENST00000405015PPHLN1chr12

42841429

-EHBP1chr2

63272766

-
intron-3UTRENST00000358314ENST00000431489PPHLN1chr12

42841429

-EHBP1chr2

63272766

-
intron-3UTRENST00000358314ENST00000354487PPHLN1chr12

42841429

-EHBP1chr2

63272766

-
intron-3UTRENST00000358314ENST00000263991PPHLN1chr12

42841429

-EHBP1chr2

63272766

-
intron-intronENST00000358314ENST00000405289PPHLN1chr12

42841429

-EHBP1chr2

63272766

-
intron-3UTRENST00000358314ENST00000496857PPHLN1chr12

42841429

-EHBP1chr2

63272766

-
intron-intronENST00000395568ENST00000405015PPHLN1chr12

42841429

-EHBP1chr2

63272766

-
intron-3UTRENST00000395568ENST00000431489PPHLN1chr12

42841429

-EHBP1chr2

63272766

-
intron-3UTRENST00000395568ENST00000354487PPHLN1chr12

42841429

-EHBP1chr2

63272766

-
intron-3UTRENST00000395568ENST00000263991PPHLN1chr12

42841429

-EHBP1chr2

63272766

-
intron-intronENST00000395568ENST00000405289PPHLN1chr12

42841429

-EHBP1chr2

63272766

-
intron-3UTRENST00000395568ENST00000496857PPHLN1chr12

42841429

-EHBP1chr2

63272766

-
intron-intronENST00000256678ENST00000405015PPHLN1chr12

42841429

-EHBP1chr2

63272766

-
intron-3UTRENST00000256678ENST00000431489PPHLN1chr12

42841429

-EHBP1chr2

63272766

-
intron-3UTRENST00000256678ENST00000354487PPHLN1chr12

42841429

-EHBP1chr2

63272766

-
intron-3UTRENST00000256678ENST00000263991PPHLN1chr12

42841429

-EHBP1chr2

63272766

-
intron-intronENST00000256678ENST00000405289PPHLN1chr12

42841429

-EHBP1chr2

63272766

-
intron-3UTRENST00000256678ENST00000496857PPHLN1chr12

42841429

-EHBP1chr2

63272766

-
intron-intronENST00000449194ENST00000405015PPHLN1chr12

42841429

-EHBP1chr2

63272766

-
intron-3UTRENST00000449194ENST00000431489PPHLN1chr12

42841429

-EHBP1chr2

63272766

-
intron-3UTRENST00000449194ENST00000354487PPHLN1chr12

42841429

-EHBP1chr2

63272766

-
intron-3UTRENST00000449194ENST00000263991PPHLN1chr12

42841429

-EHBP1chr2

63272766

-
intron-intronENST00000449194ENST00000405289PPHLN1chr12

42841429

-EHBP1chr2

63272766

-
intron-3UTRENST00000449194ENST00000496857PPHLN1chr12

42841429

-EHBP1chr2

63272766

-
intron-intronENST00000552761ENST00000405015PPHLN1chr12

42841429

-EHBP1chr2

63272766

-
intron-3UTRENST00000552761ENST00000431489PPHLN1chr12

42841429

-EHBP1chr2

63272766

-
intron-3UTRENST00000552761ENST00000354487PPHLN1chr12

42841429

-EHBP1chr2

63272766

-
intron-3UTRENST00000552761ENST00000263991PPHLN1chr12

42841429

-EHBP1chr2

63272766

-
intron-intronENST00000552761ENST00000405289PPHLN1chr12

42841429

-EHBP1chr2

63272766

-
intron-3UTRENST00000552761ENST00000496857PPHLN1chr12

42841429

-EHBP1chr2

63272766

-
intron-intronENST00000317560ENST00000405015PPHLN1chr12

42841429

-EHBP1chr2

63272766

-
intron-3UTRENST00000317560ENST00000431489PPHLN1chr12

42841429

-EHBP1chr2

63272766

-
intron-3UTRENST00000317560ENST00000354487PPHLN1chr12

42841429

-EHBP1chr2

63272766

-
intron-3UTRENST00000317560ENST00000263991PPHLN1chr12

42841429

-EHBP1chr2

63272766

-
intron-intronENST00000317560ENST00000405289PPHLN1chr12

42841429

-EHBP1chr2

63272766

-
intron-3UTRENST00000317560ENST00000496857PPHLN1chr12

42841429

-EHBP1chr2

63272766

-
3UTR-intronENST00000432191ENST00000405015PPHLN1chr12

42841429

-EHBP1chr2

63272766

-
3UTR-3UTRENST00000432191ENST00000431489PPHLN1chr12

42841429

-EHBP1chr2

63272766

-
3UTR-3UTRENST00000432191ENST00000354487PPHLN1chr12

42841429

-EHBP1chr2

63272766

-
3UTR-3UTRENST00000432191ENST00000263991PPHLN1chr12

42841429

-EHBP1chr2

63272766

-
3UTR-intronENST00000432191ENST00000405289PPHLN1chr12

42841429

-EHBP1chr2

63272766

-
3UTR-3UTRENST00000432191ENST00000496857PPHLN1chr12

42841429

-EHBP1chr2

63272766

-
intron-intronENST00000550535ENST00000405015PPHLN1chr12

42841429

-EHBP1chr2

63272766

-
intron-3UTRENST00000550535ENST00000431489PPHLN1chr12

42841429

-EHBP1chr2

63272766

-
intron-3UTRENST00000550535ENST00000354487PPHLN1chr12

42841429

-EHBP1chr2

63272766

-
intron-3UTRENST00000550535ENST00000263991PPHLN1chr12

42841429

-EHBP1chr2

63272766

-
intron-intronENST00000550535ENST00000405289PPHLN1chr12

42841429

-EHBP1chr2

63272766

-
intron-3UTRENST00000550535ENST00000496857PPHLN1chr12

42841429

-EHBP1chr2

63272766

-

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FusionProtFeatures for PPHLN1_EHBP1


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
PPHLN1

Q8NEY8

EHBP1

Q8NDI1


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 PPHLN1_EHBP1


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 PPHLN1_EHBP1


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


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 PPHLN1_EHBP1


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 PPHLN1_EHBP1


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
TgeneEHBP1C0033578Prostatic Neoplasms1CTD_human