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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: 3921

FusionGeneSummary for BCAP31_PDZD4

check button Fusion gene summary
Fusion gene informationFusion gene name: BCAP31_PDZD4
Fusion gene ID: 3921
HgeneTgene
Gene symbol

BCAP31

PDZD4

Gene ID

10134

57595

Gene nameB cell receptor associated protein 31PDZ domain containing 4
Synonyms6C6-AG|BAP31|CDM|DDCH|DXS1357ELNX5|LU1|PDZK4|PDZRN4L
Cytomap

Xq28

Xq28

Type of geneprotein-codingprotein-coding
DescriptionB-cell receptor-associated protein 316C6-AG tumor-associated antigenBCR-associated protein Bap31p28 Bap31PDZ domain-containing protein 4PDZ domain-containing RING finger protein 4-like protein
Modification date2018052320180523
UniProtAcc

P51572

Q76G19

Ensembl transtripts involved in fusion geneENST00000441714, ENST00000345046, 
ENST00000458587, ENST00000468947, 
ENST00000164640, ENST00000393758, 
ENST00000544474, ENST00000475140, 
Fusion gene scores* DoF score6 X 7 X 4=1682 X 1 X 2=4
# samples 82
** MAII scorelog2(8/168*10)=-1.0703893278914
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(2/4*10)=2.32192809488736
Context

PubMed: BCAP31 [Title/Abstract] AND PDZD4 [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
HgeneBCAP31

GO:1904154

positive regulation of retrograde protein transport, ER to cytosol

18555783


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
TCGARVLUADTCGA-38-4630-01ABCAP31chrX

152986327

-PDZD4chrX

153074050

-
* 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-shitENST00000441714ENST00000164640BCAP31chrX

152986327

-PDZD4chrX

153074050

-
5CDS-5UTRENST00000441714ENST00000393758BCAP31chrX

152986327

-PDZD4chrX

153074050

-
5CDS-intronENST00000441714ENST00000544474BCAP31chrX

152986327

-PDZD4chrX

153074050

-
5CDS-5UTRENST00000441714ENST00000475140BCAP31chrX

152986327

-PDZD4chrX

153074050

-
In-frameENST00000345046ENST00000164640BCAP31chrX

152986327

-PDZD4chrX

153074050

-
5CDS-5UTRENST00000345046ENST00000393758BCAP31chrX

152986327

-PDZD4chrX

153074050

-
5CDS-intronENST00000345046ENST00000544474BCAP31chrX

152986327

-PDZD4chrX

153074050

-
5CDS-5UTRENST00000345046ENST00000475140BCAP31chrX

152986327

-PDZD4chrX

153074050

-
Frame-shitENST00000458587ENST00000164640BCAP31chrX

152986327

-PDZD4chrX

153074050

-
5CDS-5UTRENST00000458587ENST00000393758BCAP31chrX

152986327

-PDZD4chrX

153074050

-
5CDS-intronENST00000458587ENST00000544474BCAP31chrX

152986327

-PDZD4chrX

153074050

-
5CDS-5UTRENST00000458587ENST00000475140BCAP31chrX

152986327

-PDZD4chrX

153074050

-
5UTR-3CDSENST00000468947ENST00000164640BCAP31chrX

152986327

-PDZD4chrX

153074050

-
5UTR-5UTRENST00000468947ENST00000393758BCAP31chrX

152986327

-PDZD4chrX

153074050

-
5UTR-intronENST00000468947ENST00000544474BCAP31chrX

152986327

-PDZD4chrX

153074050

-
5UTR-5UTRENST00000468947ENST00000475140BCAP31chrX

152986327

-PDZD4chrX

153074050

-

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FusionProtFeatures for BCAP31_PDZD4


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
BCAP31

P51572

PDZD4

Q76G19

Functions as a chaperone protein. Is one of the mostabundant endoplasmic reticulum (ER) proteins. Plays a role in theexport of secreted proteins in the ER, the recognition ofabnormally folded protein and their targeting to the ERassociated-degradation (ERAD). Also serves as a cargo receptor forthe export of transmembrane proteins. May be involved in CASP8-mediated apoptosis. {ECO:0000269|PubMed:10958671,ECO:0000269|PubMed:18287538, ECO:0000269|PubMed:9396746}.

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 BCAP31_PDZD4


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 BCAP31_PDZD4


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
BCAP31BCAP29, BCAP31, MYH10, ACTG1, BCL2, CASP8, BCL2L1, CASP1, VAMP3, VAMP2, APP, RNF185, BFAR, SEC61B, TRAM1, CFTR, DERL1, RNF5, SEC61A1, HLA-A, LMAN1, ITGAM, FIS1, PTPLB, CANX, VKORC1, PGRMC1, ATF2, UBL4A, ATP4A, SERPINF2, KLK10, YWHAQ, RPA3, RPA2, RPA1, COX2, GPRIN2, ENO1, MOV10, NXF1, CISD1, COX4I1, NDUFB10, OLA1, PHB, RAB1A, RAB2A, RDX, SCAMP2, SCAMP3, VDAC1, VDAC2, VDAC3, RER1, TPM2, NTRK1, EPCAM, TCTN2, TCTN3, CEP290, EVC2, TMEM237, TCTN1, TMEM17, TMEM216, TMEM67, MYH9, RBM8A, GOLT1B, SCN3B, UBAC1, ATP2B2, CYB5APDZD4GFI1B, APP, APIP


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 BCAP31_PDZD4


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 BCAP31_PDZD4


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