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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: 4562

FusionGeneSummary for BTK_CYB561D1

check button Fusion gene summary
Fusion gene informationFusion gene name: BTK_CYB561D1
Fusion gene ID: 4562
HgeneTgene
Gene symbol

BTK

CYB561D1

Gene ID

695

284613

Gene nameBruton tyrosine kinasecytochrome b561 family member D1
SynonymsAGMX1|AT|ATK|BPK|IMD1|PSCTK1|XLA-
Cytomap

Xq22.1

1p13.3

Type of geneprotein-codingprotein-coding
Descriptiontyrosine-protein kinase BTKB-cell progenitor kinaseBruton agammaglobulinemia tyrosine kinaseBruton's tyrosine kinaseagammaglobulinaemia tyrosine kinasedominant-negative kinase-deficient Brutons tyrosine kinasetruncated Bruton agammaglobulinemia tyrocytochrome b561 domain-containing protein 1cytochrome b-561 domain containing 1
Modification date2018052320180330
UniProtAcc

Q06187

Q8N8Q1

Ensembl transtripts involved in fusion geneENST00000372880, ENST00000308731, 
ENST00000464567, 		ENST00000393709, 
ENST00000496961, ENST00000533024, 
ENST00000310611, ENST00000527072, 
ENST00000420578, ENST00000528785, 
ENST00000369868, ENST00000430195, 
Fusion gene scores* DoF score1 X 1 X 1=13 X 3 X 2=18
# samples 13
** MAII scorelog2(1/1*10)=3.32192809488736log2(3/18*10)=0.736965594166206
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
Context

PubMed: BTK [Title/Abstract] AND CYB561D1 [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
HgeneBTK

GO:0018108

peptidyl-tyrosine phosphorylation

11606584


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
ChiTaRS3.1BE047734BTKchrX

100635253

-CYB561D1chr1

110042114

+
* 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-intronENST00000372880ENST00000393709BTKchrX

100635253

-CYB561D1chr1

110042114

+
intron-intronENST00000372880ENST00000496961BTKchrX

100635253

-CYB561D1chr1

110042114

+
intron-intronENST00000372880ENST00000533024BTKchrX

100635253

-CYB561D1chr1

110042114

+
intron-3UTRENST00000372880ENST00000310611BTKchrX

100635253

-CYB561D1chr1

110042114

+
intron-intronENST00000372880ENST00000527072BTKchrX

100635253

-CYB561D1chr1

110042114

+
intron-intronENST00000372880ENST00000420578BTKchrX

100635253

-CYB561D1chr1

110042114

+
intron-intronENST00000372880ENST00000528785BTKchrX

100635253

-CYB561D1chr1

110042114

+
intron-intronENST00000372880ENST00000369868BTKchrX

100635253

-CYB561D1chr1

110042114

+
intron-3UTRENST00000372880ENST00000430195BTKchrX

100635253

-CYB561D1chr1

110042114

+
intron-intronENST00000308731ENST00000393709BTKchrX

100635253

-CYB561D1chr1

110042114

+
intron-intronENST00000308731ENST00000496961BTKchrX

100635253

-CYB561D1chr1

110042114

+
intron-intronENST00000308731ENST00000533024BTKchrX

100635253

-CYB561D1chr1

110042114

+
intron-3UTRENST00000308731ENST00000310611BTKchrX

100635253

-CYB561D1chr1

110042114

+
intron-intronENST00000308731ENST00000527072BTKchrX

100635253

-CYB561D1chr1

110042114

+
intron-intronENST00000308731ENST00000420578BTKchrX

100635253

-CYB561D1chr1

110042114

+
intron-intronENST00000308731ENST00000528785BTKchrX

100635253

-CYB561D1chr1

110042114

+
intron-intronENST00000308731ENST00000369868BTKchrX

100635253

-CYB561D1chr1

110042114

+
intron-3UTRENST00000308731ENST00000430195BTKchrX

100635253

-CYB561D1chr1

110042114

+
intron-intronENST00000464567ENST00000393709BTKchrX

100635253

-CYB561D1chr1

110042114

+
intron-intronENST00000464567ENST00000496961BTKchrX

100635253

-CYB561D1chr1

110042114

+
intron-intronENST00000464567ENST00000533024BTKchrX

100635253

-CYB561D1chr1

110042114

+
intron-3UTRENST00000464567ENST00000310611BTKchrX

100635253

-CYB561D1chr1

110042114

+
intron-intronENST00000464567ENST00000527072BTKchrX

100635253

-CYB561D1chr1

110042114

+
intron-intronENST00000464567ENST00000420578BTKchrX

100635253

-CYB561D1chr1

110042114

+
intron-intronENST00000464567ENST00000528785BTKchrX

100635253

-CYB561D1chr1

110042114

+
intron-intronENST00000464567ENST00000369868BTKchrX

100635253

-CYB561D1chr1

110042114

+
intron-3UTRENST00000464567ENST00000430195BTKchrX

100635253

-CYB561D1chr1

110042114

+

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FusionProtFeatures for BTK_CYB561D1


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

Q06187

CYB561D1

Q8N8Q1

Non-receptor tyrosine kinase indispensable for Blymphocyte development, differentiation and signaling. Binding ofantigen to the B-cell antigen receptor (BCR) triggers signalingthat ultimately leads to B-cell activation. After BCR engagementand activation at the plasma membrane, phosphorylates PLCG2 atseveral sites, igniting the downstream signaling pathway throughcalcium mobilization, followed by activation of the protein kinaseC (PKC) family members. PLCG2 phosphorylation is performed inclose cooperation with the adapter protein B-cell linker proteinBLNK. BTK acts as a platform to bring together a diverse array ofsignaling proteins and is implicated in cytokine receptorsignaling pathways. Plays an important role in the function ofimmune cells of innate as well as adaptive immunity, as acomponent of the Toll-like receptors (TLR) pathway. The TLRpathway acts as a primary surveillance system for the detection ofpathogens and are crucial to the activation of host defense.Especially, is a critical molecule in regulating TLR9 activationin splenic B-cells. Within the TLR pathway, induces tyrosinephosphorylation of TIRAP which leads to TIRAP degradation. BTKplays also a critical role in transcription regulation. Inducesthe activity of NF-kappa-B, which is involved in regulating theexpression of hundreds of genes. BTK is involved on the signalingpathway linking TLR8 and TLR9 to NF-kappa-B. Transientlyphosphorylates transcription factor GTF2I on tyrosine residues inresponse to BCR. GTF2I then translocates to the nucleus to bindregulatory enhancer elements to modulate gene expression. ARID3Aand NFAT are other transcriptional target of BTK. BTK is requiredfor the formation of functional ARID3A DNA-binding complexes.There is however no evidence that BTK itself binds directly toDNA. BTK has a dual role in the regulation of apoptosis.{ECO:0000269|PubMed:11606584, ECO:0000269|PubMed:16415872,ECO:0000269|PubMed:16517732, ECO:0000269|PubMed:16738337,ECO:0000269|PubMed:17932028, ECO:0000269|PubMed:9012831}.

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 BTK_CYB561D1


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 BTK_CYB561D1


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 BTK_CYB561D1


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.0 2018-04-02)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status
HgeneBTKQ06187DB09053IbrutinibTyrosine-protein kinase BTKsmall moleculeapproved
HgeneBTKQ06187DB01254DasatinibTyrosine-protein kinase BTKsmall moleculeapproved|investigational

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RelatedDiseases for BTK_CYB561D1


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneBTKC0221026X-linked agammaglobulinemia21CTD_human;ORPHANET;UNIPROT
HgeneBTKC0001768Agammaglobulinemia1CTD_human;HPO