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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: 4530

FusionGeneSummary for BTBD3_CCDC126

check button Fusion gene summary
Fusion gene informationFusion gene name: BTBD3_CCDC126
Fusion gene ID: 4530
HgeneTgene
Gene symbol

BTBD3

CCDC126

Gene ID

22903

90693

Gene nameBTB domain containing 3coiled-coil domain containing 126
SynonymsdJ742J24.1-
Cytomap

20p12.2

7p15.3

Type of geneprotein-codingprotein-coding
DescriptionBTB/POZ domain-containing protein 3BTB (POZ) domain containing 3coiled-coil domain-containing protein 126
Modification date2018052320180519
UniProtAcc

Q9Y2F9

Q96EE4

Ensembl transtripts involved in fusion geneENST00000254977, ENST00000399006, 
ENST00000405977, ENST00000378226, 
ENST00000488503, 
ENST00000307471, 
ENST00000409765, ENST00000410069, 
ENST00000486109, 
Fusion gene scores* DoF score5 X 2 X 4=401 X 1 X 1=1
# samples 41
** MAII scorelog2(4/40*10)=0log2(1/1*10)=3.32192809488736
Context

PubMed: BTBD3 [Title/Abstract] AND CCDC126 [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
TCGARVUCECTCGA-AJ-A3IA-01ABTBD3chr20

11871602

+CCDC126chr7

23682550

+
* 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-3CDSENST00000254977ENST00000307471BTBD3chr20

11871602

+CCDC126chr7

23682550

+
5UTR-3CDSENST00000254977ENST00000409765BTBD3chr20

11871602

+CCDC126chr7

23682550

+
5UTR-3CDSENST00000254977ENST00000410069BTBD3chr20

11871602

+CCDC126chr7

23682550

+
5UTR-intronENST00000254977ENST00000486109BTBD3chr20

11871602

+CCDC126chr7

23682550

+
5UTR-3CDSENST00000399006ENST00000307471BTBD3chr20

11871602

+CCDC126chr7

23682550

+
5UTR-3CDSENST00000399006ENST00000409765BTBD3chr20

11871602

+CCDC126chr7

23682550

+
5UTR-3CDSENST00000399006ENST00000410069BTBD3chr20

11871602

+CCDC126chr7

23682550

+
5UTR-intronENST00000399006ENST00000486109BTBD3chr20

11871602

+CCDC126chr7

23682550

+
5UTR-3CDSENST00000405977ENST00000307471BTBD3chr20

11871602

+CCDC126chr7

23682550

+
5UTR-3CDSENST00000405977ENST00000409765BTBD3chr20

11871602

+CCDC126chr7

23682550

+
5UTR-3CDSENST00000405977ENST00000410069BTBD3chr20

11871602

+CCDC126chr7

23682550

+
5UTR-intronENST00000405977ENST00000486109BTBD3chr20

11871602

+CCDC126chr7

23682550

+
intron-3CDSENST00000378226ENST00000307471BTBD3chr20

11871602

+CCDC126chr7

23682550

+
intron-3CDSENST00000378226ENST00000409765BTBD3chr20

11871602

+CCDC126chr7

23682550

+
intron-3CDSENST00000378226ENST00000410069BTBD3chr20

11871602

+CCDC126chr7

23682550

+
intron-intronENST00000378226ENST00000486109BTBD3chr20

11871602

+CCDC126chr7

23682550

+
intron-3CDSENST00000488503ENST00000307471BTBD3chr20

11871602

+CCDC126chr7

23682550

+
intron-3CDSENST00000488503ENST00000409765BTBD3chr20

11871602

+CCDC126chr7

23682550

+
intron-3CDSENST00000488503ENST00000410069BTBD3chr20

11871602

+CCDC126chr7

23682550

+
intron-intronENST00000488503ENST00000486109BTBD3chr20

11871602

+CCDC126chr7

23682550

+

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FusionProtFeatures for BTBD3_CCDC126


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
BTBD3

Q9Y2F9

CCDC126

Q96EE4

Acts as a key regulator of dendritic field orientationduring development of sensory cortex. Also directs dendritestoward active axon terminals when ectopically expressed (Bysimilarity). {ECO:0000250}.

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 BTBD3_CCDC126


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 BTBD3_CCDC126


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
BTBD3PLXNB3, ELAVL1, CLTC, SEC16A, GTSE1, TRIM25CCDC126HTT, GPM6A, MFF


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 BTBD3_CCDC126


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 BTBD3_CCDC126


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
TgeneCCDC126C0023893Liver Cirrhosis, Experimental1CTD_human