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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: 34817

FusionGeneSummary for SMARCB1_TTC3

check button Fusion gene summary
Fusion gene informationFusion gene name: SMARCB1_TTC3
Fusion gene ID: 34817
HgeneTgene
Gene symbol

SMARCB1

TTC3

Gene ID

6598

7267

Gene nameSWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1tetratricopeptide repeat domain 3
SynonymsBAF47|CSS3|INI1|MRD15|PPP1R144|RDT|RTPS1|SNF5|SNF5L1|SWNTS1|Sfh1p|Snr1|hSNFSDCRR1|RNF105|TPRDIII
Cytomap

22q11.23|22q11

21q22.13

Type of geneprotein-codingprotein-coding
DescriptionSWI/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 suppressorproteinE3 ubiquitin-protein ligase TTC3RING finger protein 105RING-type E3 ubiquitin transferase TTC3TPR repeat protein 3TPR repeat protein Dtetratricopeptide repeat protein 3
Modification date2018052320180522
UniProtAcc

Q12824

P53804

Ensembl transtripts involved in fusion geneENST00000344921, ENST00000263121, 
ENST00000407422, ENST00000407082, 
ENST00000477836, 
ENST00000355666, 
ENST00000399017, ENST00000354749, 
ENST00000479930, ENST00000540756, 
ENST00000399010, 
Fusion gene scores* DoF score7 X 11 X 4=3089 X 12 X 7=756
# samples 1814
** MAII scorelog2(18/308*10)=-0.774933444365227
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(14/756*10)=-2.43295940727611
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: SMARCB1 [Title/Abstract] AND TTC3 [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
HgeneSMARCB1

GO:0006337

nucleosome disassembly

8895581

HgeneSMARCB1

GO:0006338

chromatin remodeling

11726552

HgeneSMARCB1

GO:0039692

single stranded viral RNA replication via double stranded DNA intermediate

14963118

HgeneSMARCB1

GO:0045944

positive regulation of transcription by RNA polymerase II

11950834

HgeneSMARCB1

GO:0051091

positive regulation of DNA binding transcription factor activity

11950834

HgeneSMARCB1

GO:1902661

positive regulation of glucose mediated signaling pathway

22368283

TgeneTTC3

GO:0006511

ubiquitin-dependent protein catabolic process

20059950

TgeneTTC3

GO:0070936

protein K48-linked ubiquitination

20059950


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
ChiTaRS3.1BI050912SMARCB1chr22

24175831

+TTC3chr21

38538777

-
* 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
In-frameENST00000344921ENST00000355666SMARCB1chr22

24175831

+TTC3chr21

38538777

-
In-frameENST00000344921ENST00000399017SMARCB1chr22

24175831

+TTC3chr21

38538777

-
In-frameENST00000344921ENST00000354749SMARCB1chr22

24175831

+TTC3chr21

38538777

-
5CDS-3UTRENST00000344921ENST00000479930SMARCB1chr22

24175831

+TTC3chr21

38538777

-
5CDS-intronENST00000344921ENST00000540756SMARCB1chr22

24175831

+TTC3chr21

38538777

-
5CDS-intronENST00000344921ENST00000399010SMARCB1chr22

24175831

+TTC3chr21

38538777

-
In-frameENST00000263121ENST00000355666SMARCB1chr22

24175831

+TTC3chr21

38538777

-
In-frameENST00000263121ENST00000399017SMARCB1chr22

24175831

+TTC3chr21

38538777

-
In-frameENST00000263121ENST00000354749SMARCB1chr22

24175831

+TTC3chr21

38538777

-
5CDS-3UTRENST00000263121ENST00000479930SMARCB1chr22

24175831

+TTC3chr21

38538777

-
5CDS-intronENST00000263121ENST00000540756SMARCB1chr22

24175831

+TTC3chr21

38538777

-
5CDS-intronENST00000263121ENST00000399010SMARCB1chr22

24175831

+TTC3chr21

38538777

-
In-frameENST00000407422ENST00000355666SMARCB1chr22

24175831

+TTC3chr21

38538777

-
In-frameENST00000407422ENST00000399017SMARCB1chr22

24175831

+TTC3chr21

38538777

-
In-frameENST00000407422ENST00000354749SMARCB1chr22

24175831

+TTC3chr21

38538777

-
5CDS-3UTRENST00000407422ENST00000479930SMARCB1chr22

24175831

+TTC3chr21

38538777

-
5CDS-intronENST00000407422ENST00000540756SMARCB1chr22

24175831

+TTC3chr21

38538777

-
5CDS-intronENST00000407422ENST00000399010SMARCB1chr22

24175831

+TTC3chr21

38538777

-
In-frameENST00000407082ENST00000355666SMARCB1chr22

24175831

+TTC3chr21

38538777

-
In-frameENST00000407082ENST00000399017SMARCB1chr22

24175831

+TTC3chr21

38538777

-
In-frameENST00000407082ENST00000354749SMARCB1chr22

24175831

+TTC3chr21

38538777

-
5CDS-3UTRENST00000407082ENST00000479930SMARCB1chr22

24175831

+TTC3chr21

38538777

-
5CDS-intronENST00000407082ENST00000540756SMARCB1chr22

24175831

+TTC3chr21

38538777

-
5CDS-intronENST00000407082ENST00000399010SMARCB1chr22

24175831

+TTC3chr21

38538777

-
intron-3CDSENST00000477836ENST00000355666SMARCB1chr22

24175831

+TTC3chr21

38538777

-
intron-3CDSENST00000477836ENST00000399017SMARCB1chr22

24175831

+TTC3chr21

38538777

-
intron-3CDSENST00000477836ENST00000354749SMARCB1chr22

24175831

+TTC3chr21

38538777

-
intron-3UTRENST00000477836ENST00000479930SMARCB1chr22

24175831

+TTC3chr21

38538777

-
intron-intronENST00000477836ENST00000540756SMARCB1chr22

24175831

+TTC3chr21

38538777

-
intron-intronENST00000477836ENST00000399010SMARCB1chr22

24175831

+TTC3chr21

38538777

-

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FusionProtFeatures for SMARCB1_TTC3


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
SMARCB1

Q12824

TTC3

P53804

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
TgeneTTC3chr22:24175831chr21:38538777ENST00000354749+0451018_1029-4902026Compositional biasNote=Arg/Lys-rich (basic)
TgeneTTC3chr22:24175831chr21:38538777ENST00000354749+0451020_1029-4902026Compositional biasNote=Poly-Lys
TgeneTTC3chr22:24175831chr21:38538777ENST00000354749+0451172_1185-4902026Compositional biasNote=Arg/Lys-rich (basic)
TgeneTTC3chr22:24175831chr21:38538777ENST00000354749+0451563_1579-4902026Compositional biasNote=Arg/Lys-rich (basic)
TgeneTTC3chr22:24175831chr21:38538777ENST00000354749+0451899_1902-4902026Compositional biasNote=Poly-Lys
TgeneTTC3chr22:24175831chr21:38538777ENST00000354749+045453_456-4902026Compositional biasNote=Poly-Ser
TgeneTTC3chr22:24175831chr21:38538777ENST00000355666+0461018_1029-352026Compositional biasNote=Arg/Lys-rich (basic)
TgeneTTC3chr22:24175831chr21:38538777ENST00000355666+0461020_1029-352026Compositional biasNote=Poly-Lys
TgeneTTC3chr22:24175831chr21:38538777ENST00000355666+0461172_1185-352026Compositional biasNote=Arg/Lys-rich (basic)
TgeneTTC3chr22:24175831chr21:38538777ENST00000355666+0461563_1579-352026Compositional biasNote=Arg/Lys-rich (basic)
TgeneTTC3chr22:24175831chr21:38538777ENST00000355666+0461899_1902-352026Compositional biasNote=Poly-Lys
TgeneTTC3chr22:24175831chr21:38538777ENST00000355666+046453_456-352026Compositional biasNote=Poly-Ser
TgeneTTC3chr22:24175831chr21:38538777ENST00000399017+0461018_1029-9162026Compositional biasNote=Arg/Lys-rich (basic)
TgeneTTC3chr22:24175831chr21:38538777ENST00000399017+0461020_1029-9162026Compositional biasNote=Poly-Lys
TgeneTTC3chr22:24175831chr21:38538777ENST00000399017+0461172_1185-9162026Compositional biasNote=Arg/Lys-rich (basic)
TgeneTTC3chr22:24175831chr21:38538777ENST00000399017+0461563_1579-9162026Compositional biasNote=Arg/Lys-rich (basic)
TgeneTTC3chr22:24175831chr21:38538777ENST00000399017+0461899_1902-9162026Compositional biasNote=Poly-Lys
TgeneTTC3chr22:24175831chr21:38538777ENST00000399017+046453_456-9162026Compositional biasNote=Poly-Ser
TgeneTTC3chr22:24175831chr21:38538777ENST00000354749+045231_264-4902026RepeatNote=TPR 1
TgeneTTC3chr22:24175831chr21:38538777ENST00000354749+045266_298-4902026RepeatNote=TPR 2
TgeneTTC3chr22:24175831chr21:38538777ENST00000354749+045536_572-4902026RepeatNote=TPR 3
TgeneTTC3chr22:24175831chr21:38538777ENST00000354749+045576_609-4902026RepeatNote=TPR 4
TgeneTTC3chr22:24175831chr21:38538777ENST00000355666+046231_264-352026RepeatNote=TPR 1
TgeneTTC3chr22:24175831chr21:38538777ENST00000355666+046266_298-352026RepeatNote=TPR 2
TgeneTTC3chr22:24175831chr21:38538777ENST00000355666+046536_572-352026RepeatNote=TPR 3
TgeneTTC3chr22:24175831chr21:38538777ENST00000355666+046576_609-352026RepeatNote=TPR 4
TgeneTTC3chr22:24175831chr21:38538777ENST00000399017+046231_264-9162026RepeatNote=TPR 1
TgeneTTC3chr22:24175831chr21:38538777ENST00000399017+046266_298-9162026RepeatNote=TPR 2
TgeneTTC3chr22:24175831chr21:38538777ENST00000399017+046536_572-9162026RepeatNote=TPR 3
TgeneTTC3chr22:24175831chr21:38538777ENST00000399017+046576_609-9162026RepeatNote=TPR 4
TgeneTTC3chr22:24175831chr21:38538777ENST00000354749+0451957_1997-4902026Zinc fingerRING-type
TgeneTTC3chr22:24175831chr21:38538777ENST00000355666+0461957_1997-352026Zinc fingerRING-type
TgeneTTC3chr22:24175831chr21:38538777ENST00000399017+0461957_1997-9162026Zinc fingerRING-type

- 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 SMARCB1_TTC3


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.
>In-frame_SMARCB1_ENST00000344921_chr22_24175831_+_TTC3_ENST00000355666_chr21_38538777_-_0aa

>In-frame_SMARCB1_ENST00000344921_chr22_24175831_+_TTC3_ENST00000399017_chr21_38538777_-_0aa

>In-frame_SMARCB1_ENST00000344921_chr22_24175831_+_TTC3_ENST00000354749_chr21_38538777_-_0aa

>In-frame_SMARCB1_ENST00000263121_chr22_24175831_+_TTC3_ENST00000355666_chr21_38538777_-_0aa

>In-frame_SMARCB1_ENST00000263121_chr22_24175831_+_TTC3_ENST00000399017_chr21_38538777_-_0aa

>In-frame_SMARCB1_ENST00000263121_chr22_24175831_+_TTC3_ENST00000354749_chr21_38538777_-_0aa

>In-frame_SMARCB1_ENST00000407422_chr22_24175831_+_TTC3_ENST00000355666_chr21_38538777_-_0aa

>In-frame_SMARCB1_ENST00000407422_chr22_24175831_+_TTC3_ENST00000399017_chr21_38538777_-_0aa

>In-frame_SMARCB1_ENST00000407422_chr22_24175831_+_TTC3_ENST00000354749_chr21_38538777_-_0aa

>In-frame_SMARCB1_ENST00000407082_chr22_24175831_+_TTC3_ENST00000355666_chr21_38538777_-_0aa

>In-frame_SMARCB1_ENST00000407082_chr22_24175831_+_TTC3_ENST00000399017_chr21_38538777_-_0aa

>In-frame_SMARCB1_ENST00000407082_chr22_24175831_+_TTC3_ENST00000354749_chr21_38538777_-_0aa


* Fusion transcript sequences (only coding sequence (CDS) region).
>In-frame_SMARCB1_ENST00000344921_chr22_24175831_+_TTC3_ENST00000355666_chr21_38538777_-_0nt

>In-frame_SMARCB1_ENST00000344921_chr22_24175831_+_TTC3_ENST00000399017_chr21_38538777_-_0nt

>In-frame_SMARCB1_ENST00000344921_chr22_24175831_+_TTC3_ENST00000354749_chr21_38538777_-_0nt

>In-frame_SMARCB1_ENST00000263121_chr22_24175831_+_TTC3_ENST00000355666_chr21_38538777_-_0nt

>In-frame_SMARCB1_ENST00000263121_chr22_24175831_+_TTC3_ENST00000399017_chr21_38538777_-_0nt

>In-frame_SMARCB1_ENST00000263121_chr22_24175831_+_TTC3_ENST00000354749_chr21_38538777_-_0nt

>In-frame_SMARCB1_ENST00000407422_chr22_24175831_+_TTC3_ENST00000355666_chr21_38538777_-_0nt

>In-frame_SMARCB1_ENST00000407422_chr22_24175831_+_TTC3_ENST00000399017_chr21_38538777_-_0nt

>In-frame_SMARCB1_ENST00000407422_chr22_24175831_+_TTC3_ENST00000354749_chr21_38538777_-_0nt

>In-frame_SMARCB1_ENST00000407082_chr22_24175831_+_TTC3_ENST00000355666_chr21_38538777_-_0nt

>In-frame_SMARCB1_ENST00000407082_chr22_24175831_+_TTC3_ENST00000399017_chr21_38538777_-_0nt

>In-frame_SMARCB1_ENST00000407082_chr22_24175831_+_TTC3_ENST00000354749_chr21_38538777_-_0nt


* Fusion transcript sequences (Full-length transcript).
>In-frame_SMARCB1_ENST00000344921_chr22_24175831_+_TTC3_ENST00000355666_chr21_38538777_-_0nt

>In-frame_SMARCB1_ENST00000344921_chr22_24175831_+_TTC3_ENST00000399017_chr21_38538777_-_0nt

>In-frame_SMARCB1_ENST00000344921_chr22_24175831_+_TTC3_ENST00000354749_chr21_38538777_-_0nt

>In-frame_SMARCB1_ENST00000263121_chr22_24175831_+_TTC3_ENST00000355666_chr21_38538777_-_0nt

>In-frame_SMARCB1_ENST00000263121_chr22_24175831_+_TTC3_ENST00000399017_chr21_38538777_-_0nt

>In-frame_SMARCB1_ENST00000263121_chr22_24175831_+_TTC3_ENST00000354749_chr21_38538777_-_0nt

>In-frame_SMARCB1_ENST00000407422_chr22_24175831_+_TTC3_ENST00000355666_chr21_38538777_-_0nt

>In-frame_SMARCB1_ENST00000407422_chr22_24175831_+_TTC3_ENST00000399017_chr21_38538777_-_0nt

>In-frame_SMARCB1_ENST00000407422_chr22_24175831_+_TTC3_ENST00000354749_chr21_38538777_-_0nt

>In-frame_SMARCB1_ENST00000407082_chr22_24175831_+_TTC3_ENST00000355666_chr21_38538777_-_0nt

>In-frame_SMARCB1_ENST00000407082_chr22_24175831_+_TTC3_ENST00000399017_chr21_38538777_-_0nt

>In-frame_SMARCB1_ENST00000407082_chr22_24175831_+_TTC3_ENST00000354749_chr21_38538777_-_0nt


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FusionGenePPI for SMARCB1_TTC3


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


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 SMARCB1_TTC3


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 SMARCB1_TTC3


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneSMARCB1C0206743Rhabdoid Tumor2CTD_human
HgeneSMARCB1C3553248MENTAL RETARDATION, AUTOSOMAL DOMINANT 152UNIPROT
HgeneSMARCB1C0265338Coffin-Siris syndrome1CTD_human;ORPHANET
HgeneSMARCB1C1335929Schwannomatosis1CTD_human;ORPHANET