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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: 5155

FusionGeneSummary for CABIN1_SMARCB1

check button Fusion gene summary
Fusion gene informationFusion gene name: CABIN1_SMARCB1
Fusion gene ID: 5155
HgeneTgene
Gene symbol

CABIN1

SMARCB1

Gene ID

23523

6598

Gene namecalcineurin binding protein 1SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1
SynonymsCAIN|KB-318B8.7|PPP3INBAF47|CSS3|INI1|MRD15|PPP1R144|RDT|RTPS1|SNF5|SNF5L1|SWNTS1|Sfh1p|Snr1|hSNFS
Cytomap

22q11.23

22q11.23|22q11

Type of geneprotein-codingprotein-coding
Descriptioncalcineurin-binding protein cabin-1calcineurin binding protein cabin 1calcineurin inhibitorSWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily B member 1BRG1-associated factor 47SNF5 homologSWI/SNF-related matrix-associated proteinhSNF5integrase interactor 1 proteinmalignant rhabdoid tumor suppressorprotein
Modification date2018052320180523
UniProtAcc

Q9Y6J0

Q12824

Ensembl transtripts involved in fusion geneENST00000263119, ENST00000405822, 
ENST00000398319, ENST00000337989, 
ENST00000485008, 
ENST00000344921, 
ENST00000263121, ENST00000407422, 
ENST00000407082, ENST00000477836, 
Fusion gene scores* DoF score8 X 7 X 5=2803 X 7 X 3=63
# samples 814
** MAII scorelog2(8/280*10)=-1.8073549220576
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(14/63*10)=1.15200309344505
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
Context

PubMed: CABIN1 [Title/Abstract] AND SMARCB1 [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
HgeneCABIN1

GO:0006336

DNA replication-independent nucleosome assembly

14718166

TgeneSMARCB1

GO:0006337

nucleosome disassembly

8895581

TgeneSMARCB1

GO:0006338

chromatin remodeling

11726552

TgeneSMARCB1

GO:0039692

single stranded viral RNA replication via double stranded DNA intermediate

14963118

TgeneSMARCB1

GO:0045944

positive regulation of transcription by RNA polymerase II

11950834

TgeneSMARCB1

GO:0051091

positive regulation of DNA binding transcription factor activity

11950834

TgeneSMARCB1

GO:1902661

positive regulation of glucose mediated signaling pathway

22368283


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
TCGARVOVTCGA-13-1405-01ACABIN1chr22

24408178

+SMARCB1chr22

24175759

+
* 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
intron-3CDSENST00000263119ENST00000344921CABIN1chr22

24408178

+SMARCB1chr22

24175759

+
intron-3CDSENST00000263119ENST00000263121CABIN1chr22

24408178

+SMARCB1chr22

24175759

+
intron-3CDSENST00000263119ENST00000407422CABIN1chr22

24408178

+SMARCB1chr22

24175759

+
intron-3CDSENST00000263119ENST00000407082CABIN1chr22

24408178

+SMARCB1chr22

24175759

+
intron-intronENST00000263119ENST00000477836CABIN1chr22

24408178

+SMARCB1chr22

24175759

+
intron-3CDSENST00000405822ENST00000344921CABIN1chr22

24408178

+SMARCB1chr22

24175759

+
intron-3CDSENST00000405822ENST00000263121CABIN1chr22

24408178

+SMARCB1chr22

24175759

+
intron-3CDSENST00000405822ENST00000407422CABIN1chr22

24408178

+SMARCB1chr22

24175759

+
intron-3CDSENST00000405822ENST00000407082CABIN1chr22

24408178

+SMARCB1chr22

24175759

+
intron-intronENST00000405822ENST00000477836CABIN1chr22

24408178

+SMARCB1chr22

24175759

+
5UTR-3CDSENST00000398319ENST00000344921CABIN1chr22

24408178

+SMARCB1chr22

24175759

+
5UTR-3CDSENST00000398319ENST00000263121CABIN1chr22

24408178

+SMARCB1chr22

24175759

+
5UTR-3CDSENST00000398319ENST00000407422CABIN1chr22

24408178

+SMARCB1chr22

24175759

+
5UTR-3CDSENST00000398319ENST00000407082CABIN1chr22

24408178

+SMARCB1chr22

24175759

+
5UTR-intronENST00000398319ENST00000477836CABIN1chr22

24408178

+SMARCB1chr22

24175759

+
intron-3CDSENST00000337989ENST00000344921CABIN1chr22

24408178

+SMARCB1chr22

24175759

+
intron-3CDSENST00000337989ENST00000263121CABIN1chr22

24408178

+SMARCB1chr22

24175759

+
intron-3CDSENST00000337989ENST00000407422CABIN1chr22

24408178

+SMARCB1chr22

24175759

+
intron-3CDSENST00000337989ENST00000407082CABIN1chr22

24408178

+SMARCB1chr22

24175759

+
intron-intronENST00000337989ENST00000477836CABIN1chr22

24408178

+SMARCB1chr22

24175759

+
intron-3CDSENST00000485008ENST00000344921CABIN1chr22

24408178

+SMARCB1chr22

24175759

+
intron-3CDSENST00000485008ENST00000263121CABIN1chr22

24408178

+SMARCB1chr22

24175759

+
intron-3CDSENST00000485008ENST00000407422CABIN1chr22

24408178

+SMARCB1chr22

24175759

+
intron-3CDSENST00000485008ENST00000407082CABIN1chr22

24408178

+SMARCB1chr22

24175759

+
intron-intronENST00000485008ENST00000477836CABIN1chr22

24408178

+SMARCB1chr22

24175759

+

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FusionProtFeatures for CABIN1_SMARCB1


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
CABIN1

Q9Y6J0

SMARCB1

Q12824

May be required for replication-independent chromatinassembly. May serve as a negative regulator of T-cell receptor(TCR) signaling via inhibition of calcineurin. Inhibition ofactivated calcineurin is dependent on both PKC and calciumsignals. Acts as a negative regulator of p53/TP53 by keeping p53in an inactive state on chromatin at promoters of a subset of it'starget genes. {ECO:0000269|PubMed:14718166,ECO:0000269|PubMed:9655484}. Core component of the BAF (hSWI/SNF) complex. This ATP-dependent chromatin-remodeling complex plays important roles incell proliferation and differentiation, in cellular antiviralactivities and inhibition of tumor formation. The BAF complex isable to create a stable, altered form of chromatin that constrainsfewer negative supercoils than normal. This change in supercoilingwould be due to the conversion of up to one-half of thenucleosomes on polynucleosomal arrays into asymmetric structures,termed altosomes, each composed of 2 histones octamers. Stimulatesin vitro the remodeling activity of SMARCA4/BRG1/BAF190A. Involvedin activation of CSF1 promoter. Belongs to the neural progenitors-specific chromatin remodeling complex (npBAF complex) and theneuron-specific chromatin remodeling complex (nBAF complex).During neural development a switch from a stem/progenitor to apostmitotic chromatin remodeling mechanism occurs as neurons exitthe cell cycle and become committed to their adult state. Thetransition from proliferating neural stem/progenitor cells topostmitotic neurons requires a switch in subunit composition ofthe npBAF and nBAF complexes. As neural progenitors exit mitosisand differentiate into neurons, npBAF complexes which containACTL6A/BAF53A and PHF10/BAF45A, are exchanged for homologousalternative ACTL6B/BAF53B and DPF1/BAF45B or DPF3/BAF45C subunitsin neuron-specific complexes (nBAF). The npBAF complex isessential for the self-renewal/proliferative capacity of themultipotent neural stem cells. The nBAF complex along with CRESTplays a role regulating the activity of genes essential fordendrite growth (By similarity). Plays a key role in cell-cyclecontrol and causes cell cycle arrest in G0/G1.{ECO:0000250|UniProtKB:Q9Z0H3, ECO:0000269|PubMed:10078207,ECO:0000269|PubMed:12226744, ECO:0000269|PubMed:14604992,ECO:0000269|PubMed:16267391, ECO:0000269|PubMed:16314535,ECO:0000269|PubMed:9448295}.

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 CABIN1_SMARCB1


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 CABIN1_SMARCB1


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
CABIN1MEF2BNB-MEF2B, HDAC1, HDAC2, SIN3A, MEF2D, DNM1, AMPH, AP1B1, PPP3CA, SUV39H1, HIRA, CAMK4, YWHAQ, H3F3A, UBN1, POLR2A, TFAP4, HECW2, MEF2B, EAF1, HIST1H3A, ASF1A, MEF2A, NFATC2, ASF1B, CDX1, XAGE1B, TLK2SMARCB1RELB, TACC2, SMARCA2, SMARCA4, SMARCC1, SIN3A, HDAC1, HDAC2, RBBP4, POLR2A, KLF1, GATA1, MYC, TP53, XPO1, RAN, YEATS4, MLLT10, BRCA1, SMARCB1, HSF1, SS18, ARID1A, ARID1B, SMARCC2, SMARCE1, ACTL6A, CCNE1, NCOR1, PPP1R15A, KMT2A, CREBBP, CDK8, MED21, KAT2B, PPP1CA, PPP1CB, PPP1CC, UBQLN4, ING1, MECP2, ING2, XPC, ATM, KMT2C, KMT2B, CDYL, MCPH1, BCL7C, AKT1, ACTA1, CDX2, PRMT5, SIN3B, TAF6, NR0B2, BCL2L11, SMARCD1, NONO, CARM1, EMD, DPF2, RB1CC1, RUNX1, PBRM1, ARID2, MAPK8IP2, GADD45G, CALR, TAF1D, RPS6KA5, PDPK1, MAP1LC3B, ZAK, SMARCAD1, SOX2, DPF3, CHFR, CEBPB, TFAP4, CUL3, COPS5, CAND1, APP, SMARCD2, SMARCD3, TOP2B, SAP18, EIF4A3, NCSTN, PHF10, VTN, TRA2A, SON, DPF1, EPAS1, ZDHHC17, BCL7A, BCL7B, CHMP4A, CPSF6, TBL1X, TBL1XR1, QSOX2, JUN, NFATC1, FOXN1, C1orf131, BARD1, BRCA2, ROR1, CDK9, APC, VHL, NR3C1, AR, DLST, ABI2, AES, ARL11, ATP5A1, DPH6, BHLHE40, BLZF1, FAM208B, CAMK2D, CCDC120, CCDC33, CCDC36, CD69, CDC23, CXCL11, CYB5D2, DNAJA3, FAM154A, FAM9B, GFAP, GOLGA2, HNRNPM, HOMEZ, HOOK2, HSFY1, IKZF3, KCTD9, KLC3, KPNA6, KRT15, KRT19, KRT6A, KRT6B, KRT6C, LDOC1, LENG8, LNX2, LY96, LZTS2, MBIP, MIF4GD, MXI1, NCK2, OSGIN1, OTX2, RINT1, RXRA, TEKT5, TFIP11, TNFAIP1, TNRC6A, TRIM27, TSC22D4, VIM, ZC3H11A, ZNF398


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 CABIN1_SMARCB1


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 CABIN1_SMARCB1


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneCABIN1C0018800Cardiomegaly1CTD_human
HgeneCABIN1C0036341Schizophrenia1PSYGENET
TgeneSMARCB1C0206743Rhabdoid Tumor2CTD_human
TgeneSMARCB1C3553248MENTAL RETARDATION, AUTOSOMAL DOMINANT 152UNIPROT
TgeneSMARCB1C0265338Coffin-Siris syndrome1CTD_human;ORPHANET
TgeneSMARCB1C1335929Schwannomatosis1CTD_human;ORPHANET