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Fusion gene ID: 2120 |
FusionGeneSummary for APBA2_OCA2 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: APBA2_OCA2 | Fusion gene ID: 2120 | Hgene | Tgene | Gene symbol | APBA2 | OCA2 | Gene ID | 321 | 4948 |
| Gene name | amyloid beta precursor protein binding family A member 2 | OCA2 melanosomal transmembrane protein | |
| Synonyms | D15S1518E|HsT16821|LIN-10|MGC:14091|MINT2|X11-BETA|X11L | BEY|BEY1|BEY2|BOCA|D15S12|EYCL|EYCL2|EYCL3|HCL3|P|PED|SHEP1 | |
| Cytomap | 15q13.1 | 15q12-q13.1 | |
| Type of gene | protein-coding | protein-coding | |
| Description | amyloid-beta A4 precursor protein-binding family A member 2X11-like proteinadapter protein X11betaamyloid beta (A4) precursor protein-binding, family A, member 2 (X11-like)mint-2neuron-specific X11L proteinneuronal munc18-1-interacting protein 2pho | P proteinP-proteineye color 2 (central brown)eye color 3 (brown)hair color 3 (brown)melanocyte-specific transporter proteinoculocutaneous albinism II (pink-eye dilution homolog, mouse)pink-eyed dilution protein homologtotal brown iris pigmentation | |
| Modification date | 20180523 | 20180519 | |
| UniProtAcc | Q99767 | Q04671 | |
| Ensembl transtripts involved in fusion gene | ENST00000561069, ENST00000558402, ENST00000558330, ENST00000411764, ENST00000558259, | ENST00000353809, ENST00000354638, ENST00000382996, | |
| Fusion gene scores | * DoF score | 4 X 3 X 3=36 | 6 X 7 X 7=294 |
| # samples | 4 | 7 | |
| ** MAII score | log2(4/36*10)=0.15200309344505 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0 | log2(7/294*10)=-2.0703893278914 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
| Context | PubMed: APBA2 [Title/Abstract] AND OCA2 [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 | MESO | TCGA-TS-A7OY-01A | APBA2 | chr15 | 29213952 | + | OCA2 | chr15 | 28117068 | - |
| TCGA | LD | MESO | TCGA-TS-A7OY-01A | APBA2 | chr15 | 29213952 | + | OCA2 | chr15 | 28096621 | - |
| * 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-3CDS | ENST00000561069 | ENST00000353809 | APBA2 | chr15 | 29213952 | + | OCA2 | chr15 | 28117068 | - |
| intron-3CDS | ENST00000561069 | ENST00000354638 | APBA2 | chr15 | 29213952 | + | OCA2 | chr15 | 28117068 | - |
| intron-intron | ENST00000561069 | ENST00000382996 | APBA2 | chr15 | 29213952 | + | OCA2 | chr15 | 28117068 | - |
| 5UTR-3CDS | ENST00000558402 | ENST00000353809 | APBA2 | chr15 | 29213952 | + | OCA2 | chr15 | 28117068 | - |
| 5UTR-3CDS | ENST00000558402 | ENST00000354638 | APBA2 | chr15 | 29213952 | + | OCA2 | chr15 | 28117068 | - |
| 5UTR-intron | ENST00000558402 | ENST00000382996 | APBA2 | chr15 | 29213952 | + | OCA2 | chr15 | 28117068 | - |
| 5UTR-3CDS | ENST00000558330 | ENST00000353809 | APBA2 | chr15 | 29213952 | + | OCA2 | chr15 | 28117068 | - |
| 5UTR-3CDS | ENST00000558330 | ENST00000354638 | APBA2 | chr15 | 29213952 | + | OCA2 | chr15 | 28117068 | - |
| 5UTR-intron | ENST00000558330 | ENST00000382996 | APBA2 | chr15 | 29213952 | + | OCA2 | chr15 | 28117068 | - |
| 5UTR-3CDS | ENST00000411764 | ENST00000353809 | APBA2 | chr15 | 29213952 | + | OCA2 | chr15 | 28117068 | - |
| 5UTR-3CDS | ENST00000411764 | ENST00000354638 | APBA2 | chr15 | 29213952 | + | OCA2 | chr15 | 28117068 | - |
| 5UTR-intron | ENST00000411764 | ENST00000382996 | APBA2 | chr15 | 29213952 | + | OCA2 | chr15 | 28117068 | - |
| 5UTR-3CDS | ENST00000558259 | ENST00000353809 | APBA2 | chr15 | 29213952 | + | OCA2 | chr15 | 28117068 | - |
| 5UTR-3CDS | ENST00000558259 | ENST00000354638 | APBA2 | chr15 | 29213952 | + | OCA2 | chr15 | 28117068 | - |
| 5UTR-intron | ENST00000558259 | ENST00000382996 | APBA2 | chr15 | 29213952 | + | OCA2 | chr15 | 28117068 | - |
| intron-3CDS | ENST00000561069 | ENST00000353809 | APBA2 | chr15 | 29213952 | + | OCA2 | chr15 | 28096621 | - |
| intron-3CDS | ENST00000561069 | ENST00000354638 | APBA2 | chr15 | 29213952 | + | OCA2 | chr15 | 28096621 | - |
| intron-intron | ENST00000561069 | ENST00000382996 | APBA2 | chr15 | 29213952 | + | OCA2 | chr15 | 28096621 | - |
| 5UTR-3CDS | ENST00000558402 | ENST00000353809 | APBA2 | chr15 | 29213952 | + | OCA2 | chr15 | 28096621 | - |
| 5UTR-3CDS | ENST00000558402 | ENST00000354638 | APBA2 | chr15 | 29213952 | + | OCA2 | chr15 | 28096621 | - |
| 5UTR-intron | ENST00000558402 | ENST00000382996 | APBA2 | chr15 | 29213952 | + | OCA2 | chr15 | 28096621 | - |
| 5UTR-3CDS | ENST00000558330 | ENST00000353809 | APBA2 | chr15 | 29213952 | + | OCA2 | chr15 | 28096621 | - |
| 5UTR-3CDS | ENST00000558330 | ENST00000354638 | APBA2 | chr15 | 29213952 | + | OCA2 | chr15 | 28096621 | - |
| 5UTR-intron | ENST00000558330 | ENST00000382996 | APBA2 | chr15 | 29213952 | + | OCA2 | chr15 | 28096621 | - |
| 5UTR-3CDS | ENST00000411764 | ENST00000353809 | APBA2 | chr15 | 29213952 | + | OCA2 | chr15 | 28096621 | - |
| 5UTR-3CDS | ENST00000411764 | ENST00000354638 | APBA2 | chr15 | 29213952 | + | OCA2 | chr15 | 28096621 | - |
| 5UTR-intron | ENST00000411764 | ENST00000382996 | APBA2 | chr15 | 29213952 | + | OCA2 | chr15 | 28096621 | - |
| 5UTR-3CDS | ENST00000558259 | ENST00000353809 | APBA2 | chr15 | 29213952 | + | OCA2 | chr15 | 28096621 | - |
| 5UTR-3CDS | ENST00000558259 | ENST00000354638 | APBA2 | chr15 | 29213952 | + | OCA2 | chr15 | 28096621 | - |
| 5UTR-intron | ENST00000558259 | ENST00000382996 | APBA2 | chr15 | 29213952 | + | OCA2 | chr15 | 28096621 | - |
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FusionProtFeatures for APBA2_OCA2 |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| APBA2 | OCA2 |
| Putative function in synaptic vesicle exocytosis bybinding to STXBP1, an essential component of the synaptic vesicleexocytotic machinery. May modulate processing of the amyloid-betaprecursor protein (APP) and hence formation of APP-beta. | Could be involved in the transport of tyrosine, theprecursor to melanin synthesis, within the melanocyte. Regulatesthe pH of melanosome and the melanosome maturation. One of thecomponents of the mammalian pigmentary system. Seems to regulatethe post-translational processing of tyrosinase, which catalyzesthe limiting reaction in melanin synthesis. May serve as a keycontrol point at which ethnic skin color variation is determined.Major determinant of brown and/or blue eye color.{ECO:0000269|PubMed:11310796, ECO:0000269|PubMed:15262401,ECO:0000269|PubMed:18252222, ECO:0000269|PubMed:22234890,ECO:0000269|PubMed:7601462}. |
| 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 APBA2_OCA2 |
| 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 APBA2_OCA2 |
| 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 |
| APBA2 | CLSTN1, APP, PSEN2, LRP2, LRP1, LRP8, NECAB3, RELA, USP20, MAPK6, STXBP1, APBA1, IQSEC2, KLRG2, TRIM41, TJAP1, IQSEC1, AAGAB, APEX2, BTRC, USP33, PLD1, FBXW11, DMWD, ZNF518A, DDX24, HERC2 | OCA2 | ATP13A2, HTR3A, CHRND |
| - 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 APBA2_OCA2 |
| 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 APBA2_OCA2 |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Hgene | APBA2 | C0036341 | Schizophrenia | 1 | PSYGENET |
| Tgene | OCA2 | C0268495 | Oculocutaneous albinism type 2 | 8 | CTD_human;ORPHANET;UNIPROT |
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