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Fusion gene ID: 19276 |
FusionGeneSummary for KRT6A_AP2B1 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: KRT6A_AP2B1 | Fusion gene ID: 19276 | Hgene | Tgene | Gene symbol | KRT6A | AP2B1 | Gene ID | 3853 | 163 |
| Gene name | keratin 6A | adaptor related protein complex 2 subunit beta 1 | |
| Synonyms | CK-6C|CK-6E|CK6A|CK6C|CK6D|K6A|K6C|K6D|KRT6C|KRT6D|PC3 | ADTB2|AP105B|AP2-BETA|CLAPB1 | |
| Cytomap | 12q13.13 | 17q12 | |
| Type of gene | protein-coding | protein-coding | |
| Description | keratin, type II cytoskeletal 6Ccytokeratin 6Acytokeratin 6Ccytokeratin 6Dkeratin 6A, , type IIkeratin 6A, type IIkeratin, epidermal type II, K6Akeratin, type II cytoskeletal 6Atype-II keratin Kb6 | AP-2 complex subunit betaadapter-related protein complex 2 beta subunitadapter-related protein complex 2 subunit betaadaptin, beta 2 (beta)adaptor protein complex AP-2 subunit betaadaptor related protein complex 2 beta 1 subunitadaptor-related prote | |
| Modification date | 20180519 | 20180522 | |
| UniProtAcc | P02538 | P63010 | |
| Ensembl transtripts involved in fusion gene | ENST00000330722, | ENST00000262325, ENST00000592545, ENST00000538556, ENST00000312678, ENST00000589344, ENST00000537622, ENST00000545922, | |
| Fusion gene scores | * DoF score | 8 X 4 X 3=96 | 9 X 10 X 7=630 |
| # samples | 8 | 10 | |
| ** MAII score | log2(8/96*10)=-0.263034405833794 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(10/630*10)=-2.65535182861255 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
| Context | PubMed: KRT6A [Title/Abstract] AND AP2B1 [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 |
| ChiTaRS3.1 | DC348251 | KRT6A | chr12 | 52886811 | - | AP2B1 | chr17 | 33914354 | + |
| * 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 |
| intron-5UTR | ENST00000330722 | ENST00000262325 | KRT6A | chr12 | 52886811 | - | AP2B1 | chr17 | 33914354 | + |
| intron-5UTR | ENST00000330722 | ENST00000592545 | KRT6A | chr12 | 52886811 | - | AP2B1 | chr17 | 33914354 | + |
| intron-5UTR | ENST00000330722 | ENST00000538556 | KRT6A | chr12 | 52886811 | - | AP2B1 | chr17 | 33914354 | + |
| intron-5UTR | ENST00000330722 | ENST00000312678 | KRT6A | chr12 | 52886811 | - | AP2B1 | chr17 | 33914354 | + |
| intron-intron | ENST00000330722 | ENST00000589344 | KRT6A | chr12 | 52886811 | - | AP2B1 | chr17 | 33914354 | + |
| intron-intron | ENST00000330722 | ENST00000537622 | KRT6A | chr12 | 52886811 | - | AP2B1 | chr17 | 33914354 | + |
| intron-intron | ENST00000330722 | ENST00000545922 | KRT6A | chr12 | 52886811 | - | AP2B1 | chr17 | 33914354 | + |
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FusionProtFeatures for KRT6A_AP2B1 |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| KRT6A | AP2B1 |
| Epidermis-specific type I keratin involved in woundhealing. Involved in the activation of follicular keratinocytesafter wounding, while it does not play a major role inkeratinocyte proliferation or migration. Participates in theregulation of epithelial migration by inhibiting the activity ofSRC during wound repair. {ECO:0000250|UniProtKB:P50446}. | Component of the adaptor protein complex 2 (AP-2).Adaptor protein complexes function in protein transport viatransport vesicles in different membrane traffic pathways. Adaptorprotein complexes are vesicle coat components and appear to beinvolved in cargo selection and vesicle formation. AP-2 isinvolved in clathrin-dependent endocytosis in which cargo proteinsare incorporated into vesicles surrounded by clathrin (clathrin-coated vesicles, CCVs) which are destined for fusion with theearly endosome. The clathrin lattice serves as a mechanicalscaffold but is itself unable to bind directly to membranecomponents. Clathrin-associated adaptor protein (AP) complexeswhich can bind directly to both the clathrin lattice and to thelipid and protein components of membranes are considered to be themajor clathrin adaptors contributing the CCV formation. AP-2 alsoserves as a cargo receptor to selectively sort the membraneproteins involved in receptor-mediated endocytosis. AP-2 seems toplay a role in the recycling of synaptic vesicle membranes fromthe presynaptic surface. AP-2 recognizes Y-X-X-[FILMV] (Y-X-X-Phi)and [ED]-X-X-X-L-[LI] endocytosis signal motifs within thecytosolic tails of transmembrane cargo molecules. AP-2 may alsoplay a role in maintaining normal post-endocytic traffickingthrough the ARF6-regulated, non-clathrin pathway. The AP-2 betasubunit acts via its C-terminal appendage domain as a scaffoldingplatform for endocytic accessory proteins; at least some clathrin-associated sorting proteins (CLASPs) are recognized by their [DE]-X(1,2)-F-X-X-[FL]-X-X-X-R motif. The AP-2 beta subunit binds toclathrin heavy chain, promoting clathrin lattice assembly;clathrin displaces at least some CLASPs from AP2B1 which probablythen can be positioned for further coat assembly.{ECO:0000269|PubMed:14745134, ECO:0000269|PubMed:14985334,ECO:0000269|PubMed:15473838, ECO:0000269|PubMed:19033387}. |
| 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 KRT6A_AP2B1 |
| 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 KRT6A_AP2B1 |
| 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 |
| - 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 KRT6A_AP2B1 |
| 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 |
| Hgene | KRT6A | P02538 | DB01593 | Zinc | Keratin, type II cytoskeletal 6A | small molecule | approved|investigational |
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RelatedDiseases for KRT6A_AP2B1 |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Hgene | KRT6A | C3714948 | PACHYONYCHIA CONGENITA 3 | 9 | UNIPROT |
| Tgene | AP2B1 | C0086132 | Depressive Symptoms | 1 | PSYGENET |
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