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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: 179

FusionGeneSummary for ABCD3_EXOC4

check button Fusion gene summary
Fusion gene informationFusion gene name: ABCD3_EXOC4
Fusion gene ID: 179
HgeneTgene
Gene symbol

ABCD3

EXOC4

Gene ID

5825

60412

Gene nameATP binding cassette subfamily D member 3exocyst complex component 4
SynonymsABC43|CBAS5|PMP70|PXMP1|ZWS2SEC8|SEC8L1|Sec8p
Cytomap

1p21.3

7q33

Type of geneprotein-codingprotein-coding
DescriptionATP-binding cassette sub-family D member 370 kDa peroxisomal membrane proteinATP-binding cassette, sub-family D (ALD), member 3Peroxisomal membrane protein-1 (70kD)dJ824O18.1 (ATP-binding cassette, sub-family D (ALD), member 3 (PMP70, PXMP1))peroxisoexocyst complex component 4SEC8-like 1exocyst complex component Sec8
Modification date2018051920180523
UniProtAcc

P28288

Q96A65

Ensembl transtripts involved in fusion geneENST00000394233, ENST00000454898, 
ENST00000536817, ENST00000370214, 
ENST00000315713, ENST00000484213, 
ENST00000253861, ENST00000539845, 
ENST00000393161, ENST00000545148, 
ENST00000460346, ENST00000541309, 
Fusion gene scores* DoF score4 X 3 X 4=4815 X 12 X 7=1260
# samples 415
** MAII scorelog2(4/48*10)=-0.263034405833794
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(15/1260*10)=-3.0703893278914
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: ABCD3 [Title/Abstract] AND EXOC4 [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
HgeneABCD3

GO:0007031

peroxisome organization

9425230


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
ChiTaRS3.1DA454805ABCD3chr1

94884144

+EXOC4chr7

133502077

+
* 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
In-frameENST00000394233ENST00000253861ABCD3chr1

94884144

+EXOC4chr7

133502077

+
In-frameENST00000394233ENST00000539845ABCD3chr1

94884144

+EXOC4chr7

133502077

+
5CDS-intronENST00000394233ENST00000393161ABCD3chr1

94884144

+EXOC4chr7

133502077

+
5CDS-intronENST00000394233ENST00000545148ABCD3chr1

94884144

+EXOC4chr7

133502077

+
5CDS-3UTRENST00000394233ENST00000460346ABCD3chr1

94884144

+EXOC4chr7

133502077

+
5CDS-intronENST00000394233ENST00000541309ABCD3chr1

94884144

+EXOC4chr7

133502077

+
In-frameENST00000454898ENST00000253861ABCD3chr1

94884144

+EXOC4chr7

133502077

+
In-frameENST00000454898ENST00000539845ABCD3chr1

94884144

+EXOC4chr7

133502077

+
5CDS-intronENST00000454898ENST00000393161ABCD3chr1

94884144

+EXOC4chr7

133502077

+
5CDS-intronENST00000454898ENST00000545148ABCD3chr1

94884144

+EXOC4chr7

133502077

+
5CDS-3UTRENST00000454898ENST00000460346ABCD3chr1

94884144

+EXOC4chr7

133502077

+
5CDS-intronENST00000454898ENST00000541309ABCD3chr1

94884144

+EXOC4chr7

133502077

+
5UTR-3CDSENST00000536817ENST00000253861ABCD3chr1

94884144

+EXOC4chr7

133502077

+
5UTR-3CDSENST00000536817ENST00000539845ABCD3chr1

94884144

+EXOC4chr7

133502077

+
5UTR-intronENST00000536817ENST00000393161ABCD3chr1

94884144

+EXOC4chr7

133502077

+
5UTR-intronENST00000536817ENST00000545148ABCD3chr1

94884144

+EXOC4chr7

133502077

+
5UTR-3UTRENST00000536817ENST00000460346ABCD3chr1

94884144

+EXOC4chr7

133502077

+
5UTR-intronENST00000536817ENST00000541309ABCD3chr1

94884144

+EXOC4chr7

133502077

+
In-frameENST00000370214ENST00000253861ABCD3chr1

94884144

+EXOC4chr7

133502077

+
In-frameENST00000370214ENST00000539845ABCD3chr1

94884144

+EXOC4chr7

133502077

+
5CDS-intronENST00000370214ENST00000393161ABCD3chr1

94884144

+EXOC4chr7

133502077

+
5CDS-intronENST00000370214ENST00000545148ABCD3chr1

94884144

+EXOC4chr7

133502077

+
5CDS-3UTRENST00000370214ENST00000460346ABCD3chr1

94884144

+EXOC4chr7

133502077

+
5CDS-intronENST00000370214ENST00000541309ABCD3chr1

94884144

+EXOC4chr7

133502077

+
In-frameENST00000315713ENST00000253861ABCD3chr1

94884144

+EXOC4chr7

133502077

+
In-frameENST00000315713ENST00000539845ABCD3chr1

94884144

+EXOC4chr7

133502077

+
5CDS-intronENST00000315713ENST00000393161ABCD3chr1

94884144

+EXOC4chr7

133502077

+
5CDS-intronENST00000315713ENST00000545148ABCD3chr1

94884144

+EXOC4chr7

133502077

+
5CDS-3UTRENST00000315713ENST00000460346ABCD3chr1

94884144

+EXOC4chr7

133502077

+
5CDS-intronENST00000315713ENST00000541309ABCD3chr1

94884144

+EXOC4chr7

133502077

+
intron-3CDSENST00000484213ENST00000253861ABCD3chr1

94884144

+EXOC4chr7

133502077

+
intron-3CDSENST00000484213ENST00000539845ABCD3chr1

94884144

+EXOC4chr7

133502077

+
intron-intronENST00000484213ENST00000393161ABCD3chr1

94884144

+EXOC4chr7

133502077

+
intron-intronENST00000484213ENST00000545148ABCD3chr1

94884144

+EXOC4chr7

133502077

+
intron-3UTRENST00000484213ENST00000460346ABCD3chr1

94884144

+EXOC4chr7

133502077

+
intron-intronENST00000484213ENST00000541309ABCD3chr1

94884144

+EXOC4chr7

133502077

+

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FusionProtFeatures for ABCD3_EXOC4


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
ABCD3

P28288

EXOC4

Q96A65

Probable transporter involved in the transport ofbranched-chain fatty acids and C27 bile acids into the peroxisome;the latter function is a crucial step in bile acid biosynthesis(PubMed:25168382). The nucleotide-binding fold acts as an ATP-binding subunit with ATPase activity (PubMed:11248239).{ECO:0000269|PubMed:11248239, ECO:0000269|PubMed:25168382}. Component of the exocyst complex involved in the dockingof exocytic vesicles with fusion sites on the plasma membrane.{ECO:0000250}.

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
TgeneEXOC4chr1:94884144chr7:133502077ENST00000393161+01032_114-10474Coiled coilOntology_term=ECO:0000255

- In-frame and not-retained protein feature among the 13 regional features.
>>>>>>>>>>>>>>>>>>>>>>>>
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgeneABCD3chr1:94884144chr7:133502077ENST00000315713+19440_65936237DomainABC transporter
HgeneABCD3chr1:94884144chr7:133502077ENST00000315713+1985_37236237DomainABC transmembrane type-1
HgeneABCD3chr1:94884144chr7:133502077ENST00000370214+123440_65936660DomainABC transporter
HgeneABCD3chr1:94884144chr7:133502077ENST00000370214+12385_37236660DomainABC transmembrane type-1
HgeneABCD3chr1:94884144chr7:133502077ENST00000394233+119440_65936550DomainABC transporter
HgeneABCD3chr1:94884144chr7:133502077ENST00000394233+11985_37236550DomainABC transmembrane type-1
HgeneABCD3chr1:94884144chr7:133502077ENST00000315713+19473_48036237Nucleotide bindingATP
HgeneABCD3chr1:94884144chr7:133502077ENST00000370214+123473_48036660Nucleotide bindingATP
HgeneABCD3chr1:94884144chr7:133502077ENST00000394233+119473_48036550Nucleotide bindingATP
HgeneABCD3chr1:94884144chr7:133502077ENST00000315713+191_12436237RegionNote=Targeting to peroxisomes
HgeneABCD3chr1:94884144chr7:133502077ENST00000370214+1231_12436660RegionNote=Targeting to peroxisomes
HgeneABCD3chr1:94884144chr7:133502077ENST00000394233+1191_12436550RegionNote=Targeting to peroxisomes
HgeneABCD3chr1:94884144chr7:133502077ENST00000315713+19126_14636237TransmembraneHelical
HgeneABCD3chr1:94884144chr7:133502077ENST00000315713+19224_24436237TransmembraneHelical
HgeneABCD3chr1:94884144chr7:133502077ENST00000315713+19313_33336237TransmembraneHelical
HgeneABCD3chr1:94884144chr7:133502077ENST00000315713+1984_10436237TransmembraneHelical
HgeneABCD3chr1:94884144chr7:133502077ENST00000370214+123126_14636660TransmembraneHelical
HgeneABCD3chr1:94884144chr7:133502077ENST00000370214+123224_24436660TransmembraneHelical
HgeneABCD3chr1:94884144chr7:133502077ENST00000370214+123313_33336660TransmembraneHelical
HgeneABCD3chr1:94884144chr7:133502077ENST00000370214+12384_10436660TransmembraneHelical
HgeneABCD3chr1:94884144chr7:133502077ENST00000394233+119126_14636550TransmembraneHelical
HgeneABCD3chr1:94884144chr7:133502077ENST00000394233+119224_24436550TransmembraneHelical
HgeneABCD3chr1:94884144chr7:133502077ENST00000394233+119313_33336550TransmembraneHelical
HgeneABCD3chr1:94884144chr7:133502077ENST00000394233+11984_10436550TransmembraneHelical
TgeneEXOC4chr1:94884144chr7:133502077ENST00000253861+91832_114504975Coiled coilOntology_term=ECO:0000255


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FusionGeneSequence for ABCD3_EXOC4


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 ABCD3_EXOC4


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
ABCD3C20orf24, PTP4A3, PELO, MLF2, MEST, PGRMC1, BRF2, ABCD1, PEX19, USP50, USP32, CLN3, CUL3, PEX3, NDUFV1, MPV17, TAP1, ATP6V1C1, AGPS, NNT, SURF1, SYNJ2BP, MRPL41, ZNF454, TIMMDC1, NDUFB11, NDUFS4, TOMM40, ECT2, MDC1, PEX14, MMS19, TUFT1, PSMA1, DYRK1B, DYRK1A, HIPK4, MOV10, NXF1, OBSL1, RNF2, EGFR, FAF2, SLC39A4, UNK, NTRK1, DHX9, EEF2, BTRC, PCM1, TMEM67, KRAS, PTPN1, RAB7A, VAPA, GOLT1B, TMEM63B, FAM134A, MYH14, COQ9, NDUFA4, C15orf48, OCIAD1, ZNF746, CTDNEP1, TPTE, STOM, PDHA1, TRIM25, UBE2AEXOC4MYC, DLG3, EXOC3, GRIN2B, DLG4, EXOC7, GTF2E2, DISC1, DTNBP1, CEP63, EXOC1, MYO5A, EXOC2, EXOC8, EXOC5, IQCB1, EGFR, ATG5, ATG12, BECN1, SNAP29, BSG, TPM1, SETDB1, EXOC6, NTRK1, MED4, SCLT1, OFD1, PCM1, CNTROB, FGFR1OP, CEP128, CEP44, CNTRL, ODF2, DYNLT1, TMEM17, SNW1, CDC5L, PTAR1, MTMR4, STX11, IKBIP, IL1R2, GGA1, APLNR, EXOC3L2, EXOC6B, TSSC1, RABEP2, VPS51, RABEP1, RALB, 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
HgeneABCD3chr1:94884144chr7:133502077ENST00000315713+191_19936237PEX19
HgeneABCD3chr1:94884144chr7:133502077ENST00000370214+1231_19936660PEX19
HgeneABCD3chr1:94884144chr7:133502077ENST00000394233+1191_19936550PEX19


check button - Retained PPIs, but lost function due to frame-shift fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenInteraction lost with


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RelatedDrugs for ABCD3_EXOC4


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 ABCD3_EXOC4


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneABCD3C0009404Colorectal Neoplasms1CTD_human
HgeneABCD3C0043459Zellweger Syndrome1CTD_human