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Fusion gene ID: 177 |
FusionGeneSummary for ABCD3_ARHGAP29 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: ABCD3_ARHGAP29 | Fusion gene ID: 177 | Hgene | Tgene | Gene symbol | ABCD3 | ARHGAP29 | Gene ID | 5825 | 9411 |
| Gene name | ATP binding cassette subfamily D member 3 | Rho GTPase activating protein 29 | |
| Synonyms | ABC43|CBAS5|PMP70|PXMP1|ZWS2 | PARG1 | |
| Cytomap | 1p21.3 | 1p22.1 | |
| Type of gene | protein-coding | protein-coding | |
| Description | ATP-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))peroxiso | rho GTPase-activating protein 29PTPL1-associated RhoGAP 1 (PARG1)PTPL1-associated RhoGAP protein 1rho-type GTPase-activating protein 29 | |
| Modification date | 20180519 | 20180519 | |
| UniProtAcc | P28288 | Q52LW3 | |
| Ensembl transtripts involved in fusion gene | ENST00000394233, ENST00000454898, ENST00000536817, ENST00000370214, ENST00000315713, ENST00000484213, | ENST00000260526, ENST00000482481, ENST00000370217, | |
| Fusion gene scores | * DoF score | 4 X 3 X 4=48 | 1 X 1 X 1=1 |
| # samples | 4 | 1 | |
| ** MAII score | log2(4/48*10)=-0.263034405833794 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(1/1*10)=3.32192809488736 | |
| Context | PubMed: ABCD3 [Title/Abstract] AND ARHGAP29 [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) |
| Gene ontology of each fusion partner gene with evidence of Inferred from Direct Assay (IDA) from Entrez |
| Partner | Gene | GO ID | GO term | PubMed ID |
| Hgene | ABCD3 | GO:0007031 | peroxisome organization | 9425230 |
| 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 type | Source | Cancer type | Sample | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand |
| TCGA | RV | BLCA | TCGA-GV-A3QH-01A | ABCD3 | chr1 | 94884144 | + | ARHGAP29 | chr1 | 94685948 | - |
| * LD: Li Ding group's fusion gene list RV: Roel Verhaak group's fusion gene list ChiTaRs fusion database |
| 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. |
| ORF | Henst | Tenst | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand |
| Frame-shift | ENST00000394233 | ENST00000260526 | ABCD3 | chr1 | 94884144 | + | ARHGAP29 | chr1 | 94685948 | - |
| 5CDS-intron | ENST00000394233 | ENST00000482481 | ABCD3 | chr1 | 94884144 | + | ARHGAP29 | chr1 | 94685948 | - |
| 5CDS-intron | ENST00000394233 | ENST00000370217 | ABCD3 | chr1 | 94884144 | + | ARHGAP29 | chr1 | 94685948 | - |
| Frame-shift | ENST00000454898 | ENST00000260526 | ABCD3 | chr1 | 94884144 | + | ARHGAP29 | chr1 | 94685948 | - |
| 5CDS-intron | ENST00000454898 | ENST00000482481 | ABCD3 | chr1 | 94884144 | + | ARHGAP29 | chr1 | 94685948 | - |
| 5CDS-intron | ENST00000454898 | ENST00000370217 | ABCD3 | chr1 | 94884144 | + | ARHGAP29 | chr1 | 94685948 | - |
| 5UTR-3CDS | ENST00000536817 | ENST00000260526 | ABCD3 | chr1 | 94884144 | + | ARHGAP29 | chr1 | 94685948 | - |
| 5UTR-intron | ENST00000536817 | ENST00000482481 | ABCD3 | chr1 | 94884144 | + | ARHGAP29 | chr1 | 94685948 | - |
| 5UTR-intron | ENST00000536817 | ENST00000370217 | ABCD3 | chr1 | 94884144 | + | ARHGAP29 | chr1 | 94685948 | - |
| Frame-shift | ENST00000370214 | ENST00000260526 | ABCD3 | chr1 | 94884144 | + | ARHGAP29 | chr1 | 94685948 | - |
| 5CDS-intron | ENST00000370214 | ENST00000482481 | ABCD3 | chr1 | 94884144 | + | ARHGAP29 | chr1 | 94685948 | - |
| 5CDS-intron | ENST00000370214 | ENST00000370217 | ABCD3 | chr1 | 94884144 | + | ARHGAP29 | chr1 | 94685948 | - |
| Frame-shift | ENST00000315713 | ENST00000260526 | ABCD3 | chr1 | 94884144 | + | ARHGAP29 | chr1 | 94685948 | - |
| 5CDS-intron | ENST00000315713 | ENST00000482481 | ABCD3 | chr1 | 94884144 | + | ARHGAP29 | chr1 | 94685948 | - |
| 5CDS-intron | ENST00000315713 | ENST00000370217 | ABCD3 | chr1 | 94884144 | + | ARHGAP29 | chr1 | 94685948 | - |
| intron-3CDS | ENST00000484213 | ENST00000260526 | ABCD3 | chr1 | 94884144 | + | ARHGAP29 | chr1 | 94685948 | - |
| intron-intron | ENST00000484213 | ENST00000482481 | ABCD3 | chr1 | 94884144 | + | ARHGAP29 | chr1 | 94685948 | - |
| intron-intron | ENST00000484213 | ENST00000370217 | ABCD3 | chr1 | 94884144 | + | ARHGAP29 | chr1 | 94685948 | - |
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FusionProtFeatures for ABCD3_ARHGAP29 |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| ABCD3 | ARHGAP29 |
| 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}. | GTPase activator for the Rho-type GTPases by convertingthem to an inactive GDP-bound state. Has strong activity towardRHOA, and weaker activity toward RAC1 and CDC42. May act as aspecific effector of RAP2A to regulate Rho. In concert withRASIP1, suppresses RhoA signaling and dampens ROCK and MYH9activities in endothelial cells and plays an essential role inblood vessel tubulogenesis. {ECO:0000269|PubMed:15752761,ECO:0000269|PubMed:9305890}. |
| Retention 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 . * 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. |
| Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Protein feature | Protein feature note |
| - In-frame and not-retained protein feature among the 13 regional features. |
| Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Protein feature | Protein feature note |
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FusionGeneSequence for ABCD3_ARHGAP29 |
| 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_ARHGAP29 |
| Go to ChiPPI (Chimeric Protein-Protein interactions) to see the chimeric PPI interaction in . |
| Protein-protein interactors with each fusion partner protein in wild-type (BIOGRID-3.4.160) |
| Hgene | Hgene's interactors | Tgene | Tgene's interactors |
| ABCD3 | C20orf24, 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, UBE2A | ARHGAP29 | MAGEA11, PTPN13, SIRT1, KDM1A, GPR183, HERC1, CEP128, XPO1, CDH1, EGFR, JPH4 |
| - Retained PPIs in in-frame fusion. |
| Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Still interaction with |
| - Lost PPIs in in-frame fusion. |
| Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
| - Retained PPIs, but lost function due to frame-shift fusion. |
| Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
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RelatedDrugs for ABCD3_ARHGAP29 |
| Drugs targeting genes involved in this fusion gene. (DrugBank Version 5.1.0 2018-04-02) |
| Partner | Gene | UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
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RelatedDiseases for ABCD3_ARHGAP29 |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Hgene | ABCD3 | C0009404 | Colorectal Neoplasms | 1 | CTD_human |
| Hgene | ABCD3 | C0043459 | Zellweger Syndrome | 1 | CTD_human |
| Tgene | ARHGAP29 | C0334634 | Malignant lymphoma, lymphocytic, intermediate differentiation, diffuse | 1 | CTD_human |
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