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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: 26874

FusionGeneSummary for PHB2_SPINT1

check button Fusion gene summary
Fusion gene informationFusion gene name: PHB2_SPINT1
Fusion gene ID: 26874
HgeneTgene
Gene symbol

PHB2

SPINT1

Gene ID

11331

6692

Gene nameprohibitin 2serine peptidase inhibitor, Kunitz type 1
SynonymsBAP|BCAP37|Bap37|PNAS-141|REA|hBAP|p22HAI|HAI1|MANSC2
Cytomap

12p13.31

15q15.1

Type of geneprotein-codingprotein-coding
Descriptionprohibitin-2B-cell associated proteinB-cell receptor-associated protein BAP37D-prohibitinrepressor of estrogen receptor activitykunitz-type protease inhibitor 1HAI-1hepatocyte growth factor activator inhibitor type 1serine protease inhibitor, Kunitz type 1
Modification date2018051920180519
UniProtAcc

Q99623

O43278

Ensembl transtripts involved in fusion geneENST00000546111, ENST00000535923, 
ENST00000542912, ENST00000440277, 
ENST00000399433, ENST00000544134, 
ENST00000562057, ENST00000344051, 
ENST00000431806, 
Fusion gene scores* DoF score7 X 7 X 2=983 X 3 X 1=9
# samples 75
** MAII scorelog2(7/98*10)=-0.485426827170242
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(5/9*10)=2.47393118833241
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
Context

PubMed: PHB2 [Title/Abstract] AND SPINT1 [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
HgenePHB2

GO:0000060

protein import into nucleus, translocation

17008324|19116139

HgenePHB2

GO:0007062

sister chromatid cohesion

23548868

HgenePHB2

GO:0030449

regulation of complement activation

17070910

HgenePHB2

GO:0045892

negative regulation of transcription, DNA-templated

10359819

HgenePHB2

GO:0051091

positive regulation of DNA binding transcription factor activity

18629613


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
ChiTaRS3.1BE281028PHB2chr12

7079358

-SPINT1chr15

41148087

+
* 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-shitENST00000546111ENST00000562057PHB2chr12

7079358

-SPINT1chr15

41148087

+
Frame-shitENST00000546111ENST00000344051PHB2chr12

7079358

-SPINT1chr15

41148087

+
Frame-shitENST00000546111ENST00000431806PHB2chr12

7079358

-SPINT1chr15

41148087

+
Frame-shitENST00000535923ENST00000562057PHB2chr12

7079358

-SPINT1chr15

41148087

+
Frame-shitENST00000535923ENST00000344051PHB2chr12

7079358

-SPINT1chr15

41148087

+
Frame-shitENST00000535923ENST00000431806PHB2chr12

7079358

-SPINT1chr15

41148087

+
Frame-shitENST00000542912ENST00000562057PHB2chr12

7079358

-SPINT1chr15

41148087

+
Frame-shitENST00000542912ENST00000344051PHB2chr12

7079358

-SPINT1chr15

41148087

+
Frame-shitENST00000542912ENST00000431806PHB2chr12

7079358

-SPINT1chr15

41148087

+
Frame-shitENST00000440277ENST00000562057PHB2chr12

7079358

-SPINT1chr15

41148087

+
Frame-shitENST00000440277ENST00000344051PHB2chr12

7079358

-SPINT1chr15

41148087

+
Frame-shitENST00000440277ENST00000431806PHB2chr12

7079358

-SPINT1chr15

41148087

+
Frame-shitENST00000399433ENST00000562057PHB2chr12

7079358

-SPINT1chr15

41148087

+
Frame-shitENST00000399433ENST00000344051PHB2chr12

7079358

-SPINT1chr15

41148087

+
Frame-shitENST00000399433ENST00000431806PHB2chr12

7079358

-SPINT1chr15

41148087

+
5UTR-3CDSENST00000544134ENST00000562057PHB2chr12

7079358

-SPINT1chr15

41148087

+
5UTR-3CDSENST00000544134ENST00000344051PHB2chr12

7079358

-SPINT1chr15

41148087

+
5UTR-3CDSENST00000544134ENST00000431806PHB2chr12

7079358

-SPINT1chr15

41148087

+

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FusionProtFeatures for PHB2_SPINT1


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
PHB2

Q99623

SPINT1

O43278

Acts as a mediator of transcriptional repression bynuclear hormone receptors via recruitment of histone deacetylases(By similarity). Functions as an estrogen receptor (ER)-selectivecoregulator that potentiates the inhibitory activities ofantiestrogens and represses the activity of estrogens. Competeswith NCOA1 for modulation of ER transcriptional activity. Probablyinvolved in regulating mitochondrial respiration activity and inaging. {ECO:0000250|UniProtKB:O35129, ECO:0000269|PubMed:10359819,ECO:0000303|PubMed:11302691}. Inhibitor of HGF activator. Also acts as an inhibitor ofmatriptase (ST14).

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 PHB2_SPINT1


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 PHB2_SPINT1


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
PHB2CTNNB1, TFE3, SIRT2, CDC25B, SERINC3, JUP, NUP205, USP15, MMS19, PDXDC1, RIPK2, DDX20, NUP93, NELFCD, RUNX3, TIMM50, EPPK1, COPG1, LGALS3BP, ESR1, PTMA, ATG2A, HDAC1, HDAC2, HDAC3, HDAC5, NR2F1, NR2F2, EZH2, PHB, RNF185, ICT1, AGO3, CDK2, RNF2, KIAA1244, ILF3, UQCRC1, TUFM, AKT1, MYOD1, MEF2A, FHL2, BRCA1, ECT2, MDC1, PAXIP1, FMNL1, EPAS1, FN1, VCAM1, C1QBP, ATF2, UBL4A, ITGA4, ADRB2, TEAD3, AFP, UPF2, ASB14, ASB17, STAU1, NCOR1, IGF1R, HUWE1, PPARG, SUZ12, EED, BLK, RIC3, XIAP, NMRAL1, HNRNPA1, UNK, NTRK1, ATP6V1C1, CCDC47, COX4I1, GOSR1, LGALS1, MRPL17, NDUFB8, AFG3L2, ATAD3A, ATAD3B, ATL3, ATP5L, CLTC, CYB5B, CYC1, HNRNPA3, IDH1, LDHB, LMAN1, MRPL2, MRPL40, MTCH2, NDUFA2, NDUFB7, NDUFS8, NDUFV1, PSMC3, RAB11B, STOML2, TOMM40, TUBB, TUBB4B, VAPA, VDAC1, VDAC2, VDAC3, PTBP1, SSR1, FAP, ANKRA2, RFXANK, MED20, PTPN1, RAB2A, RAB5C, TMPO, XRCC3, RAB7A, AKAP1, RAB11A, EMC2, MTX2, FGFR1OP2, GOLT1B, TMEM63B, YIPF5, MMGT1, TRIM29, MCM2, MCM5, GLI1, ESRRB, U2AF2, KPNA1, KPNA2, KPNA5, KPNA6, ARMC7, ZNF746, TPTE, STOM, ALDH2, TUBA1A, CYLD, LMNA, YAP1, MTF1, BRD1SPINT1ST14, UBQLN4, FAM46A, ZNF250, NLGN3


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 PHB2_SPINT1


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.0 2018-04-02)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status
HgenePHB2Q99623DB06774CapsaicinProhibitin-2small moleculeapproved

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RelatedDiseases for PHB2_SPINT1


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