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Fusion gene ID: 2120 |
FusionGeneSummary for APBA2_OCA2 |
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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) |
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Partner | Gene | GO ID | GO term | PubMed ID |
![]() (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 |
![]() * 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 |
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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}. |
![]() * 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 |
![]() (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 |
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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 |
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Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Still interaction with |
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Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
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Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
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RelatedDrugs for APBA2_OCA2 |
![]() (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 |
![]() (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 |