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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: 17913

FusionGeneSummary for ITM2B_PHF15

check button Fusion gene summary
Fusion gene informationFusion gene name: ITM2B_PHF15
Fusion gene ID: 17913
HgeneTgene
Gene symbol

ITM2B

PHF15

Gene ID

9445

23338

Gene nameintegral membrane protein 2Bjade family PHD finger 2
SynonymsABRI|BRI|BRI2|BRICD2B|E25B|E3-16|FBD|RDGCA|imBRI2JADE-2|PHF15
Cytomap

13q14.2

5q31.1

Type of geneprotein-codingprotein-coding
Descriptionintegral membrane protein 2BABri/ADan amyloid peptideBRICHOS domain containing 2Bimmature BRI2transmembrane protein BRIE3 ubiquitin-protein ligase Jade-2PHD finger protein 15jade family PHD finger protein 2
Modification date2018052320180519
UniProtAcc

Q9Y287

Ensembl transtripts involved in fusion geneENST00000378565, ENST00000378549, 
ENST00000282605, ENST00000515554, 
ENST00000361895, ENST00000402835, 
ENST00000395003, 
Fusion gene scores* DoF score9 X 5 X 9=4052 X 2 X 2=8
# samples 122
** MAII scorelog2(12/405*10)=-1.75488750216347
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(2/8*10)=1.32192809488736
Context

PubMed: ITM2B [Title/Abstract] AND PHF15 [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
HgeneITM2B

GO:0042985

negative regulation of amyloid precursor protein biosynthetic process

16027166|18524908

TgenePHF15

GO:0043966

histone H3 acetylation

16387653

TgenePHF15

GO:0043981

histone H4-K5 acetylation

16387653

TgenePHF15

GO:0043982

histone H4-K8 acetylation

16387653

TgenePHF15

GO:0043983

histone H4-K12 acetylation

16387653

TgenePHF15

GO:0043984

histone H4-K16 acetylation

16387653


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
TCGARVKIRPTCGA-HE-7129-01AITM2Bchr13

48835524

+PHF15chr5

133861347

+
* 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
3UTR-3CDSENST00000378565ENST00000282605ITM2Bchr13

48835524

+PHF15chr5

133861347

+
3UTR-3CDSENST00000378565ENST00000515554ITM2Bchr13

48835524

+PHF15chr5

133861347

+
3UTR-intronENST00000378565ENST00000361895ITM2Bchr13

48835524

+PHF15chr5

133861347

+
3UTR-intronENST00000378565ENST00000402835ITM2Bchr13

48835524

+PHF15chr5

133861347

+
3UTR-intronENST00000378565ENST00000395003ITM2Bchr13

48835524

+PHF15chr5

133861347

+
Frame-shiftENST00000378549ENST00000282605ITM2Bchr13

48835524

+PHF15chr5

133861347

+
Frame-shiftENST00000378549ENST00000515554ITM2Bchr13

48835524

+PHF15chr5

133861347

+
5CDS-intronENST00000378549ENST00000361895ITM2Bchr13

48835524

+PHF15chr5

133861347

+
5CDS-intronENST00000378549ENST00000402835ITM2Bchr13

48835524

+PHF15chr5

133861347

+
5CDS-intronENST00000378549ENST00000395003ITM2Bchr13

48835524

+PHF15chr5

133861347

+

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FusionProtFeatures for ITM2B_PHF15


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
ITM2B

Q9Y287

PHF15

Plays a regulatory role in the processing of theamyloid-beta A4 precursor protein (APP) and acts as an inhibitorof the amyloid-beta peptide aggregation and fibrils deposition.Plays a role in the induction of neurite outgrowth. Functions as aprotease inhibitor by blocking access of secretases to APPcleavage sites. Mature BRI2 (mBRI2) functions as a modulator of theamyloid-beta A4 precursor protein (APP) processing leading to astrong reduction in the secretion of secretase-processed amyloid-beta protein 40 and amyloid-beta protein 42. Bri23 peptide prevents aggregation of APP amyloid-betaprotein 42 into toxic oligomers. Lectin that binds to various sugars: galactose > mannose= fucose > N-acetylglucosamine > N-acetylgalactosamine(PubMed:10224141). Acts as a chemoattractant, probably involved inthe regulation of cell migration (PubMed:28301481).{ECO:0000269|PubMed:10224141, ECO:0000269|PubMed:28301481}.

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 ITM2B_PHF15


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 ITM2B_PHF15


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
ITM2BBCL2, RYK, CCDC155, SYNE4, NAALADL2, HLA-A, UBR1, DCBLD2, MR1, BTN2A2, SEMA4F, ATF6B, CHST12, TMEM59L, TMEM219, HS6ST1, PGAP1, GLG1, SEMA6A, CACNA2D1, B4GALNT1, TGFBR3, LRFN3, KIAA1467, AMIGO1, UNK, TMEM17, CREB3, KIF18A, POU5F1, FCGRT, LMNAPHF15


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 ITM2B_PHF15


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 ITM2B_PHF15


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneITM2BC0020538Hypertensive disease1CTD_human
HgeneITM2BC4015146RETINAL DYSTROPHY WITH INNER RETINAL DYSFUNCTION AND GANGLION CELL ABNORMALITIES1ORPHANET;UNIPROT