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Center for Computational Systems Medicine
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FusionGeneSummary

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FusionProtFeature

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FusionGeneSequence

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FusionGenePPI

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RelatedDrugs

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RelatedDiseases

Fusion gene ID: 33882

FusionGeneSummary for SIN3A_OCA2

check button Fusion gene summary
Fusion gene informationFusion gene name: SIN3A_OCA2
Fusion gene ID: 33882
HgeneTgene
Gene symbol

SIN3A

OCA2

Gene ID

25942

4948

Gene nameSIN3 transcription regulator family member AOCA2 melanosomal transmembrane protein
SynonymsWITKOSBEY|BEY1|BEY2|BOCA|D15S12|EYCL|EYCL2|EYCL3|HCL3|P|PED|SHEP1
Cytomap

15q24.2

15q12-q13.1

Type of geneprotein-codingprotein-coding
Descriptionpaired amphipathic helix protein Sin3aSIN3 homolog A, transcription regulatorhistone deacetylase complex subunit Sin3atranscriptional co-repressor Sin3Atranscriptional corepressor Sin3atranscriptional regulator, SIN3AP 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 date2018052320180519
UniProtAcc

Q96ST3

Q04671

Ensembl transtripts involved in fusion geneENST00000394947, ENST00000360439, 
ENST00000394949, ENST00000567289, 
ENST00000353809, ENST00000354638, 
ENST00000382996, 
Fusion gene scores* DoF score10 X 6 X 6=3606 X 7 X 7=294
# samples 117
** MAII scorelog2(11/360*10)=-1.71049338280502
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: SIN3A [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)

check button Gene ontology of each fusion partner gene with evidence of Inferred from Direct Assay (IDA) from Entrez
PartnerGeneGO IDGO termPubMed ID

check button 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 typeSourceCancer typeSampleHgeneHchrHbpHstrandTgeneTchrTbpTstrand
TCGARVBLCATCGA-G2-AA3D-01ASIN3Achr15

75743764

-OCA2chr15

28211968

-
* LD: Li Ding group's fusion gene list
  RV: Roel Verhaak group's fusion gene list
  ChiTaRs fusion database

check button 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.
ORFHenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrand
5UTR-3CDSENST00000394947ENST00000353809SIN3Achr15

75743764

-OCA2chr15

28211968

-
5UTR-3CDSENST00000394947ENST00000354638SIN3Achr15

75743764

-OCA2chr15

28211968

-
5UTR-3CDSENST00000394947ENST00000382996SIN3Achr15

75743764

-OCA2chr15

28211968

-
intron-3CDSENST00000360439ENST00000353809SIN3Achr15

75743764

-OCA2chr15

28211968

-
intron-3CDSENST00000360439ENST00000354638SIN3Achr15

75743764

-OCA2chr15

28211968

-
intron-3CDSENST00000360439ENST00000382996SIN3Achr15

75743764

-OCA2chr15

28211968

-
intron-3CDSENST00000394949ENST00000353809SIN3Achr15

75743764

-OCA2chr15

28211968

-
intron-3CDSENST00000394949ENST00000354638SIN3Achr15

75743764

-OCA2chr15

28211968

-
intron-3CDSENST00000394949ENST00000382996SIN3Achr15

75743764

-OCA2chr15

28211968

-
5UTR-3CDSENST00000567289ENST00000353809SIN3Achr15

75743764

-OCA2chr15

28211968

-
5UTR-3CDSENST00000567289ENST00000354638SIN3Achr15

75743764

-OCA2chr15

28211968

-
5UTR-3CDSENST00000567289ENST00000382996SIN3Achr15

75743764

-OCA2chr15

28211968

-

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FusionProtFeatures for SIN3A_OCA2


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
SIN3A

Q96ST3

OCA2

Q04671

Acts as a transcriptional repressor. Corepressor forREST. Interacts with MXI1 to repress MYC responsive genes andantagonize MYC oncogenic activities. Also interacts with MXD1-MAXheterodimers to repress transcription by tethering SIN3A to DNA.Acts cooperatively with OGT to repress transcription in parallelwith histone deacetylation. Involved in he control of thecircadian rhythms. Required for the transcriptional repression ofcircadian target genes, such as PER1, mediated by the large PERcomplex through histone deacetylation. Cooperates with FOXK1 toregulate cell cycle progression probably by repressing cell cycleinhibitor genes expression (By similarity).{ECO:0000250|UniProtKB:Q60520, ECO:0000269|PubMed:12150998}. 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}.

check buttonRetention 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

download page

.

* 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.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note

- In-frame and not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note


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FusionGeneSequence for SIN3A_OCA2


check button 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 SIN3A_OCA2


check button Go to ChiPPI (Chimeric Protein-Protein interactions) to see the chimeric PPI interaction in

ChiPPI page

.

check button Protein-protein interactors with each fusion partner protein in wild-type (BIOGRID-3.4.160)
HgeneHgene's interactorsTgeneTgene's interactors
SIN3AMBD3L1, HDAC9, IKZF1, HCFC1, DNMT3B, HDAC1, HDAC2, MTA2, MTA1, ARID4B, SUDS3, SAP30, SAP130, PTMA, EFCAB6, SETDB1, MORF4, PFN2, MORF4L2, RBPJ, SNW1, KDM1A, PML, NCOR1, SKI, SMARCB1, SMARCA4, SMARCA2, SMARCC1, PHB, RBBP4, RBBP7, SAP18, HBP1, MXD1, KLF11, KLF16, KLF13, KLF9, KLF10, ZBTB16, CABIN1, NCOR2, SATB1, PHF12, IKZF3, IKZF2, IKZF4, MBD2, ING1, HEY2, COPS2, BCL6, RLIM, TAL1, RUNX1T1, MNT, MXD3, OGT, MECP2, MBD4, ING2, WHSC1, SFPQ, ZBTB7A, MKX, NR4A2, GPS2, TBL1X, HDAC4, HSP90AA1, NR0B2, ADD1, ESR1, HDAC5, SAP30L, ID2, MGEA5, SAP25, NKX3-2, PRMT5, SMARCE1, MEN1, PA2G4, SMARCA5, NFX1, CBFA2T2, BCL6B, TAF1, CHD3, SMARCC2, ALL1, TAF6, TBP, MBD3, TAF9, RAN, TFCP2, CYP4V2, NKX2-2, TGIF1, ZBTB4, PFDN5, SPI1, KLF1, SP1, ETV6, SMAD3, ARID4A, SYT1, CTCF, TP53, REST, SKIL, CHD4, MYB, TRIM28, SMN1, RUNX1, CSNK2A1, TOPORS, E2F4, MAF, TADA2A, IRF5, MORF4L1, THAP11, KMT2A, NONO, SMARCAD1, SOX2, DACH1, KDM2B, HINT1, LAMTOR5, NR2C1, ISG15, BRMS1L, GRK5, AR, TAB2, SNCA, SLC9A3R2, S100A10, SEPT11, PDLIM5, ACO2, TOM1L2, SEC22B, NOTCH2, THADA, TTLL12, AHCYL1, SF1, IGBP1, EPAS1, BRMS1, BHLHE40, STAT3, MAD1L1, SHFM1, HIF1A, DDB1, CUL4B, CHFR, NXF1, HIST3H3, LOXL2, EED, EDA, LACC1, MIER2, UNK, NTRK1, GTF2E2, CAB39, CSNK2A2, DDX46, FUBP1, KHSRP, PIR, VAPA, TCF20, SIN3B, SNAI1, MAX, FOXK1, FOXK2, FBXW7, KMT2E, NANOG, POU5F1, GATAD1, FAM60A, ZNF704, PHF23, DDX41, TFAP4, MDK, TRIM25OCA2ATP13A2, HTR3A, CHRND


check button - Retained PPIs in in-frame fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenStill interaction with


check button - Lost PPIs in in-frame fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenInteraction lost with


check button - Retained PPIs, but lost function due to frame-shift fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenInteraction lost with


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RelatedDrugs for SIN3A_OCA2


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.0 2018-04-02)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status

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RelatedDiseases for SIN3A_OCA2


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneSIN3AC0013336Dwarfism1CTD_human
HgeneSIN3AC0020255Hydrocephalus1CTD_human
HgeneSIN3AC0025958Microcephaly1CTD_human
HgeneSIN3AC0175754Agenesis of corpus callosum1CTD_human
HgeneSIN3AC0376634Craniofacial Abnormalities1CTD_human
HgeneSIN3AC1510586Autism Spectrum Disorders1CTD_human
HgeneSIN3AC3714756Intellectual Disability1CTD_human;HPO
TgeneOCA2C0268495Oculocutaneous albinism type 28CTD_human;ORPHANET;UNIPROT