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Fusion gene ID: 27604 |
FusionGeneSummary for PLEKHA7_ABCC8 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: PLEKHA7_ABCC8 | Fusion gene ID: 27604 | Hgene | Tgene | Gene symbol | PLEKHA7 | ABCC8 | Gene ID | 144100 | 6833 |
| Gene name | pleckstrin homology domain containing A7 | ATP binding cassette subfamily C member 8 | |
| Synonyms | - | ABC36|HHF1|HI|HRINS|MRP8|PHHI|SUR|SUR1|SUR1delta2|TNDM2 | |
| Cytomap | 11p15.2-p15.1 | 11p15.1 | |
| Type of gene | protein-coding | protein-coding | |
| Description | pleckstrin homology domain-containing family A member 7PH domain-containing family A member 7pleckstrin homology domain containing, family A member 2pleckstrin homology domain containing, family A member 7pleckstrin homology domain-containing family A | ATP-binding cassette sub-family C member 8ATP-binding cassette transporter sub-family C member 8ATP-binding cassette, sub-family C (CFTR/MRP), member 8sulfonylurea receptor (hyperinsulinemia)sulfonylurea receptor 1 | |
| Modification date | 20180522 | 20180528 | |
| UniProtAcc | Q6IQ23 | Q09428 | |
| Ensembl transtripts involved in fusion gene | ENST00000531066, ENST00000355661, ENST00000448080, ENST00000532079, ENST00000332954, | ENST00000389817, ENST00000302539, ENST00000528202, | |
| Fusion gene scores | * DoF score | 8 X 3 X 7=168 | 2 X 2 X 2=8 |
| # samples | 8 | 2 | |
| ** MAII score | log2(8/168*10)=-1.0703893278914 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(2/8*10)=1.32192809488736 | |
| Context | PubMed: PLEKHA7 [Title/Abstract] AND ABCC8 [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 |
| 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 | LGG | TCGA-DB-A4XH-01A | PLEKHA7 | chr11 | 17035536 | - | ABCC8 | chr11 | 17485151 | - |
| * 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 | ENST00000531066 | ENST00000389817 | PLEKHA7 | chr11 | 17035536 | - | ABCC8 | chr11 | 17485151 | - |
| Frame-shift | ENST00000531066 | ENST00000302539 | PLEKHA7 | chr11 | 17035536 | - | ABCC8 | chr11 | 17485151 | - |
| 5CDS-intron | ENST00000531066 | ENST00000528202 | PLEKHA7 | chr11 | 17035536 | - | ABCC8 | chr11 | 17485151 | - |
| Frame-shift | ENST00000355661 | ENST00000389817 | PLEKHA7 | chr11 | 17035536 | - | ABCC8 | chr11 | 17485151 | - |
| Frame-shift | ENST00000355661 | ENST00000302539 | PLEKHA7 | chr11 | 17035536 | - | ABCC8 | chr11 | 17485151 | - |
| 5CDS-intron | ENST00000355661 | ENST00000528202 | PLEKHA7 | chr11 | 17035536 | - | ABCC8 | chr11 | 17485151 | - |
| Frame-shift | ENST00000448080 | ENST00000389817 | PLEKHA7 | chr11 | 17035536 | - | ABCC8 | chr11 | 17485151 | - |
| Frame-shift | ENST00000448080 | ENST00000302539 | PLEKHA7 | chr11 | 17035536 | - | ABCC8 | chr11 | 17485151 | - |
| 5CDS-intron | ENST00000448080 | ENST00000528202 | PLEKHA7 | chr11 | 17035536 | - | ABCC8 | chr11 | 17485151 | - |
| intron-3CDS | ENST00000532079 | ENST00000389817 | PLEKHA7 | chr11 | 17035536 | - | ABCC8 | chr11 | 17485151 | - |
| intron-3CDS | ENST00000532079 | ENST00000302539 | PLEKHA7 | chr11 | 17035536 | - | ABCC8 | chr11 | 17485151 | - |
| intron-intron | ENST00000532079 | ENST00000528202 | PLEKHA7 | chr11 | 17035536 | - | ABCC8 | chr11 | 17485151 | - |
| intron-3CDS | ENST00000332954 | ENST00000389817 | PLEKHA7 | chr11 | 17035536 | - | ABCC8 | chr11 | 17485151 | - |
| intron-3CDS | ENST00000332954 | ENST00000302539 | PLEKHA7 | chr11 | 17035536 | - | ABCC8 | chr11 | 17485151 | - |
| intron-intron | ENST00000332954 | ENST00000528202 | PLEKHA7 | chr11 | 17035536 | - | ABCC8 | chr11 | 17485151 | - |
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FusionProtFeatures for PLEKHA7_ABCC8 |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| PLEKHA7 | ABCC8 |
| Required for zonula adherens biogenesis and maintenance.Acts via its interaction with KIAA1543/Nezha, which anchorsmicrotubules at their minus-ends to zonula adherens, leading tothe recruitment of KIFC3 kinesin to the junctional site.{ECO:0000269|PubMed:19041755}. | Subunit of the beta-cell ATP-sensitive potassium channel(KATP). Regulator of ATP-sensitive K(+) channels and insulinrelease. {ECO:0000269|PubMed:24814349,ECO:0000269|PubMed:25720052}. |
| 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 PLEKHA7_ABCC8 |
| 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 PLEKHA7_ABCC8 |
| 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 |
| PLEKHA7 | USP20, YWHAQ, LATS2, YWHAB, TSPAN33, FGL1, NINL, CDH1, EGFR, CDC14A, KCTD3, KIF13B, ZBTB21, KSR1, GIGYF1, LRFN1, DENND1A, CGN, SH3PXD2A, SRGAP2, EIF4E2, RTKN, SIPA1L1, MAST3, PPM1H, LIMA1, MAGI1, TESK2, DCLK1, ZNF638, DENND4C, SRSF12, SYDE1, HDAC4, AGAP1, NF1, CDC25B, CDK16, CBY1, MAPKAP1, FAM110B, USP21, NADK, CDC25C, FAM53C, ANKRD34A, GIGYF2, CAMSAP2, TIAM1, KIAA1804, RASAL2, INPP5E | ABCC8 | RAPGEF4, KCNJ11 |
| - 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 PLEKHA7_ABCC8 |
| 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 |
| Tgene | ABCC8 | Q09428 | DB00222 | Glimepiride | ATP-binding cassette sub-family C member 8 | small molecule | approved |
| Tgene | ABCC8 | Q09428 | DB01016 | Glyburide | ATP-binding cassette sub-family C member 8 | small molecule | approved |
| Tgene | ABCC8 | Q09428 | DB01120 | Gliclazide | ATP-binding cassette sub-family C member 8 | small molecule | approved |
| Tgene | ABCC8 | Q09428 | DB00672 | Chlorpropamide | ATP-binding cassette sub-family C member 8 | small molecule | approved|investigational |
| Tgene | ABCC8 | Q09428 | DB00731 | Nateglinide | ATP-binding cassette sub-family C member 8 | small molecule | approved|investigational |
| Tgene | ABCC8 | Q09428 | DB00839 | Tolazamide | ATP-binding cassette sub-family C member 8 | small molecule | approved|investigational |
| Tgene | ABCC8 | Q09428 | DB00912 | Repaglinide | ATP-binding cassette sub-family C member 8 | small molecule | approved|investigational |
| Tgene | ABCC8 | Q09428 | DB01067 | Glipizide | ATP-binding cassette sub-family C member 8 | small molecule | approved|investigational |
| Tgene | ABCC8 | Q09428 | DB01124 | Tolbutamide | ATP-binding cassette sub-family C member 8 | small molecule | approved|investigational |
| Tgene | ABCC8 | Q09428 | DB01251 | Gliquidone | ATP-binding cassette sub-family C member 8 | small molecule | approved|investigational |
| Tgene | ABCC8 | Q09428 | DB01252 | Mitiglinide | ATP-binding cassette sub-family C member 8 | small molecule | approved|investigational |
| Tgene | ABCC8 | Q09428 | DB01382 | Glycodiazine | ATP-binding cassette sub-family C member 8 | small molecule | approved|investigational |
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RelatedDiseases for PLEKHA7_ABCC8 |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Hgene | PLEKHA7 | C0017605 | Angle Closure Glaucoma | 2 | CTD_human |
| Tgene | ABCC8 | C2931832 | Hyperinsulinemic hypoglycemia, familial, 1 | 19 | ORPHANET;UNIPROT |
| Tgene | ABCC8 | C1833104 | DIABETES MELLITUS, PERMANENT NEONATAL | 4 | CTD_human;ORPHANET;UNIPROT |
| Tgene | ABCC8 | C0011860 | Diabetes Mellitus, Non-Insulin-Dependent | 2 | CTD_human;HPO;ORPHANET |
| Tgene | ABCC8 | C3888018 | Congenital Hyperinsulinism | 2 | CTD_human |
| Tgene | ABCC8 | C0009404 | Colorectal Neoplasms | 1 | CTD_human |
| Tgene | ABCC8 | C0011854 | Diabetes Mellitus, Insulin-Dependent | 1 | CTD_human |
| Tgene | ABCC8 | C0271714 | Hypoglycemia, leucine-induced | 1 | CTD_human;UNIPROT |
| Tgene | ABCC8 | C1835887 | DIABETES MELLITUS, TRANSIENT NEONATAL, 2 (disorder) | 1 | CTD_human;UNIPROT |
Copyright 2018-Present -The University of Texas Health Science Center at Houston (UTHealth)
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