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Fusion gene ID: 30750 |
FusionGeneSummary for RBM39_OCA2 |
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Fusion gene information | Fusion gene name: RBM39_OCA2 | Fusion gene ID: 30750 | Hgene | Tgene | Gene symbol | RBM39 | OCA2 | Gene ID | 9584 | 4948 |
Gene name | RNA binding motif protein 39 | OCA2 melanosomal transmembrane protein | |
Synonyms | CAPER|CAPERalpha|FSAP59|HCC1|RNPC2 | BEY|BEY1|BEY2|BOCA|D15S12|EYCL|EYCL2|EYCL3|HCL3|P|PED|SHEP1 | |
Cytomap | 20q11.22 | 15q12-q13.1 | |
Type of gene | protein-coding | protein-coding | |
Description | RNA-binding protein 39CAPER alphaRNA-binding region (RNP1, RRM) containing 2coactivator of activating protein-1 and estrogen receptorsfunctional spliceosome-associated protein 59hepatocellular carcinoma protein 1splicing factor HCC1 | 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 | 20180519 | 20180519 | |
UniProtAcc | Q14498 | Q04671 | |
Ensembl transtripts involved in fusion gene | ENST00000253363, ENST00000361162, ENST00000528062, ENST00000407261, ENST00000397370, ENST00000463098, | ENST00000353809, ENST00000354638, ENST00000382996, | |
Fusion gene scores | * DoF score | 13 X 11 X 8=1144 | 6 X 7 X 7=294 |
# samples | 15 | 7 | |
** MAII score | log2(15/1144*10)=-2.93105264628251 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). 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: RBM39 [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 | SARC | TCGA-FX-A3NK-01A | RBM39 | chr20 | 34328746 | - | OCA2 | chr15 | 28171400 | - |
* 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 |
Frame-shift | ENST00000253363 | ENST00000353809 | RBM39 | chr20 | 34328746 | - | OCA2 | chr15 | 28171400 | - |
Frame-shift | ENST00000253363 | ENST00000354638 | RBM39 | chr20 | 34328746 | - | OCA2 | chr15 | 28171400 | - |
5CDS-intron | ENST00000253363 | ENST00000382996 | RBM39 | chr20 | 34328746 | - | OCA2 | chr15 | 28171400 | - |
Frame-shift | ENST00000361162 | ENST00000353809 | RBM39 | chr20 | 34328746 | - | OCA2 | chr15 | 28171400 | - |
Frame-shift | ENST00000361162 | ENST00000354638 | RBM39 | chr20 | 34328746 | - | OCA2 | chr15 | 28171400 | - |
5CDS-intron | ENST00000361162 | ENST00000382996 | RBM39 | chr20 | 34328746 | - | OCA2 | chr15 | 28171400 | - |
Frame-shift | ENST00000528062 | ENST00000353809 | RBM39 | chr20 | 34328746 | - | OCA2 | chr15 | 28171400 | - |
Frame-shift | ENST00000528062 | ENST00000354638 | RBM39 | chr20 | 34328746 | - | OCA2 | chr15 | 28171400 | - |
5CDS-intron | ENST00000528062 | ENST00000382996 | RBM39 | chr20 | 34328746 | - | OCA2 | chr15 | 28171400 | - |
5UTR-3CDS | ENST00000407261 | ENST00000353809 | RBM39 | chr20 | 34328746 | - | OCA2 | chr15 | 28171400 | - |
5UTR-3CDS | ENST00000407261 | ENST00000354638 | RBM39 | chr20 | 34328746 | - | OCA2 | chr15 | 28171400 | - |
5UTR-intron | ENST00000407261 | ENST00000382996 | RBM39 | chr20 | 34328746 | - | OCA2 | chr15 | 28171400 | - |
Frame-shift | ENST00000397370 | ENST00000353809 | RBM39 | chr20 | 34328746 | - | OCA2 | chr15 | 28171400 | - |
Frame-shift | ENST00000397370 | ENST00000354638 | RBM39 | chr20 | 34328746 | - | OCA2 | chr15 | 28171400 | - |
5CDS-intron | ENST00000397370 | ENST00000382996 | RBM39 | chr20 | 34328746 | - | OCA2 | chr15 | 28171400 | - |
5UTR-3CDS | ENST00000463098 | ENST00000353809 | RBM39 | chr20 | 34328746 | - | OCA2 | chr15 | 28171400 | - |
5UTR-3CDS | ENST00000463098 | ENST00000354638 | RBM39 | chr20 | 34328746 | - | OCA2 | chr15 | 28171400 | - |
5UTR-intron | ENST00000463098 | ENST00000382996 | RBM39 | chr20 | 34328746 | - | OCA2 | chr15 | 28171400 | - |
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FusionProtFeatures for RBM39_OCA2 |
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Hgene | Tgene |
RBM39 | OCA2 |
Transcriptional coactivator for steroid nuclearreceptors ESR1/ER-alpha and ESR2/ER-beta, and JUN/AP-1 (Bysimilarity). May be involved in pre-mRNA splicing process.{ECO:0000250}. | 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 RBM39_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 RBM39_OCA2 |
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Hgene | Hgene's interactors | Tgene | Tgene's interactors |
RBM39 | ESR2, ESR1, JUN, HNRNPA1, CDK9, KHDRBS2, SRRM1, SRRM2, HIST1H1C, CTNNBL1, TADA2A, UBC, MME, HDAC5, SND1, RPS2, RPS3, ACIN1, SNRNP200, CDK12, SF3B1, RBM25, PNN, U2AF2, PCBP3, TRA2B, LUC7L2, SRSF7, SRSF1, SAP18, SNRPD1, HNRNPU, XRCC5, XRCC6, IRF2BP2, RPS13, RPL27A, IRF2BPL, HDGF, SF3A2, SIRT7, TCF3, NR2C1, CUL3, CUL1, COPS5, CAND1, PGR, APP, SMU1, DDX3X, BCAS2, PLRG1, NHP2L1, USP39, PRPF19, RALY, TOP1, DDX21, GPATCH1, ILF3, RRP7A, SEPT7, TRMT112, UTP14A, S100A9, RRS1, RAN, SEPT2, RBM14, VTN, FLNA, RPS14, BARD1, MDC1, MAGOH, PRPF40A, CHERP, RBM23, PRPF3, PRPF38A, SAP30BP, HNRNPH2, NKAP, TOE1, TTC14, ZCCHC10, RNF113A, SRPK2, AICDA, SRPK1, CLK2, SRPK3, TARDBP, RPA3, RPA2, RPA1, WWOX, SPRTN, TP53, PHC2, GOLGA2, REL, SDCBP, SP100, MLX, ZBTB22, SRSF11, PPIG, SF3B4, KIAA0907, ARL6IP4, BANP, THAP1, C11orf57, HOMEZ, AK8, FAM200A, SREK1IP1, KRTAP12-2, RP9P, NXF1, CUL7, OBSL1, EZH2, SUZ12, EED, RNF2, HSPB1, PNISR, RBM14-RBM4, CDC5L, SNRNP70, RNPS1, SON, SREK1, SFN, NTRK1, CLK1, AHSA1, SEC16A, LAP3, KMT2E, SNW1, CRBN, ZNF746, EGFR, JMJD6, NCL, MTNR1A, INO80B, TRIM25, MCPH1 | 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 RBM39_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 RBM39_OCA2 |
![]() (DisGeNet 4.0) |
Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
Tgene | OCA2 | C0268495 | Oculocutaneous albinism type 2 | 8 | CTD_human;ORPHANET;UNIPROT |