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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: 2018

FusionGeneSummary for AP1B1_CLCN3

check button Fusion gene summary
Fusion gene informationFusion gene name: AP1B1_CLCN3
Fusion gene ID: 2018
HgeneTgene
Gene symbol

AP1B1

CLCN3

Gene ID

162

1182

Gene nameadaptor related protein complex 1 subunit beta 1chloride voltage-gated channel 3
SynonymsADTB1|AP105A|BAM22|CLAPB2CLC3|ClC-3
Cytomap

22q12.2

4q33

Type of geneprotein-codingprotein-coding
DescriptionAP-1 complex subunit beta-1ADTB1, CLAPB2Golgi adaptor HA1/AP1 adaptin beta subunitadapter-related protein complex 1 subunit beta-1adaptor protein complex AP-1 subunit beta-1adaptor related protein complex 1 beta 1 subunitbeta-1-adaptinbeta-adaptin H(+)/Cl(-) exchange transporter 3chloride channel 3chloride channel protein 3chloride channel, voltage-sensitive 3chloride transporter ClC-3
Modification date2018052220180523
UniProtAcc

Q10567

P51790

Ensembl transtripts involved in fusion geneENST00000356015, ENST00000432560, 
ENST00000357586, ENST00000405198, 
ENST00000317368, ENST00000402502, 
ENST00000415447, ENST00000472057, 
ENST00000513761, ENST00000347613, 
ENST00000360642, ENST00000504131, 
ENST00000506924, 
Fusion gene scores* DoF score7 X 7 X 5=24536 X 4 X 19=2736
# samples 739
** MAII scorelog2(7/245*10)=-1.8073549220576
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(39/2736*10)=-2.81052220113629
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: AP1B1 [Title/Abstract] AND CLCN3 [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
TgeneCLCN3

GO:1902476

chloride transmembrane transport

11274166


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-BT-A3PH-01AAP1B1chr22

29723671

-CLCN3chr4

170623929

+
* 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
5CDS-intronENST00000356015ENST00000513761AP1B1chr22

29723671

-CLCN3chr4

170623929

+
5CDS-intronENST00000356015ENST00000347613AP1B1chr22

29723671

-CLCN3chr4

170623929

+
5CDS-intronENST00000356015ENST00000360642AP1B1chr22

29723671

-CLCN3chr4

170623929

+
5CDS-intronENST00000356015ENST00000504131AP1B1chr22

29723671

-CLCN3chr4

170623929

+
5CDS-intronENST00000356015ENST00000506924AP1B1chr22

29723671

-CLCN3chr4

170623929

+
5CDS-intronENST00000432560ENST00000513761AP1B1chr22

29723671

-CLCN3chr4

170623929

+
5CDS-intronENST00000432560ENST00000347613AP1B1chr22

29723671

-CLCN3chr4

170623929

+
5CDS-intronENST00000432560ENST00000360642AP1B1chr22

29723671

-CLCN3chr4

170623929

+
5CDS-intronENST00000432560ENST00000504131AP1B1chr22

29723671

-CLCN3chr4

170623929

+
5CDS-intronENST00000432560ENST00000506924AP1B1chr22

29723671

-CLCN3chr4

170623929

+
5CDS-intronENST00000357586ENST00000513761AP1B1chr22

29723671

-CLCN3chr4

170623929

+
5CDS-intronENST00000357586ENST00000347613AP1B1chr22

29723671

-CLCN3chr4

170623929

+
5CDS-intronENST00000357586ENST00000360642AP1B1chr22

29723671

-CLCN3chr4

170623929

+
5CDS-intronENST00000357586ENST00000504131AP1B1chr22

29723671

-CLCN3chr4

170623929

+
5CDS-intronENST00000357586ENST00000506924AP1B1chr22

29723671

-CLCN3chr4

170623929

+
intron-intronENST00000405198ENST00000513761AP1B1chr22

29723671

-CLCN3chr4

170623929

+
intron-intronENST00000405198ENST00000347613AP1B1chr22

29723671

-CLCN3chr4

170623929

+
intron-intronENST00000405198ENST00000360642AP1B1chr22

29723671

-CLCN3chr4

170623929

+
intron-intronENST00000405198ENST00000504131AP1B1chr22

29723671

-CLCN3chr4

170623929

+
intron-intronENST00000405198ENST00000506924AP1B1chr22

29723671

-CLCN3chr4

170623929

+
intron-intronENST00000317368ENST00000513761AP1B1chr22

29723671

-CLCN3chr4

170623929

+
intron-intronENST00000317368ENST00000347613AP1B1chr22

29723671

-CLCN3chr4

170623929

+
intron-intronENST00000317368ENST00000360642AP1B1chr22

29723671

-CLCN3chr4

170623929

+
intron-intronENST00000317368ENST00000504131AP1B1chr22

29723671

-CLCN3chr4

170623929

+
intron-intronENST00000317368ENST00000506924AP1B1chr22

29723671

-CLCN3chr4

170623929

+
intron-intronENST00000402502ENST00000513761AP1B1chr22

29723671

-CLCN3chr4

170623929

+
intron-intronENST00000402502ENST00000347613AP1B1chr22

29723671

-CLCN3chr4

170623929

+
intron-intronENST00000402502ENST00000360642AP1B1chr22

29723671

-CLCN3chr4

170623929

+
intron-intronENST00000402502ENST00000504131AP1B1chr22

29723671

-CLCN3chr4

170623929

+
intron-intronENST00000402502ENST00000506924AP1B1chr22

29723671

-CLCN3chr4

170623929

+
intron-intronENST00000415447ENST00000513761AP1B1chr22

29723671

-CLCN3chr4

170623929

+
intron-intronENST00000415447ENST00000347613AP1B1chr22

29723671

-CLCN3chr4

170623929

+
intron-intronENST00000415447ENST00000360642AP1B1chr22

29723671

-CLCN3chr4

170623929

+
intron-intronENST00000415447ENST00000504131AP1B1chr22

29723671

-CLCN3chr4

170623929

+
intron-intronENST00000415447ENST00000506924AP1B1chr22

29723671

-CLCN3chr4

170623929

+
intron-intronENST00000472057ENST00000513761AP1B1chr22

29723671

-CLCN3chr4

170623929

+
intron-intronENST00000472057ENST00000347613AP1B1chr22

29723671

-CLCN3chr4

170623929

+
intron-intronENST00000472057ENST00000360642AP1B1chr22

29723671

-CLCN3chr4

170623929

+
intron-intronENST00000472057ENST00000504131AP1B1chr22

29723671

-CLCN3chr4

170623929

+
intron-intronENST00000472057ENST00000506924AP1B1chr22

29723671

-CLCN3chr4

170623929

+

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FusionProtFeatures for AP1B1_CLCN3


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
AP1B1

Q10567

CLCN3

P51790

Subunit of clathrin-associated adaptor protein complex 1that plays a role in protein sorting in the late-Golgi/trans-Golginetwork (TGN) and/or endosomes. The AP complexes mediate both therecruitment of clathrin to membranes and the recognition ofsorting signals within the cytosolic tails of transmembrane cargomolecules. Mediates the exchange of chloride ions against protons.Functions as antiporter and contributes to the acidification ofthe endosome and synaptic vesicle lumen, and may thereby affectvesicle trafficking and exocytosis. May play an important role inneuronal cell function through regulation of membrane excitabilityby protein kinase C. It could help neuronal cells to establishshort-term memory. {ECO:0000269|PubMed:11967229}.

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 AP1B1_CLCN3


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 AP1B1_CLCN3


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
AP1B1AP1G1, PRKDC, ATM, ATR, ARF1, CLINT1, AMPH, CLTC, CABIN1, KIF13A, AP2M1, AP1M1, SNCA, SIRT7, CUL3, CDK2, COPS5, SHBG, EPN1, EPS15, SNAP91, AP1S2, AP1S1, BARD1, VCP, NTRK2, PPP6R3, ABCE1, DIABLO, INTS9, TBC1D2, TRIP10, TRMT61A, RPA3, RPA2, RPA1, EGFR, CCDC183, NECAP2, LRFN4, PNKD, AP1M2, CCNL2, AP2A1, AP2A2, CBS, ARHGAP1, FLNB, PRKAB1, TTC37, UBA1, NTRK1, ARRB2, TMEM17, XPO1, GTSE1, SNW1, CDC5L, AP2S1, ARFGAP1, RUNDC3A, GPR156, SNX9, PPP6R2, LSR, GPBP1L1, FBXO4, FCHO1, STAMBPL1, HIP1R, SIGLECL1, SHC1, MTUS2, MTNR1B, DLD, TRIM25, SLC2A8CLCN3CLCN3, SLC9A3R1, PDZK1, GOPC, CFTR, LGALS3, LGALS8, LGALS9, LYPD3, HSPB1, TMEM9B, GGA1, TPCN2, TRIM25


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 AP1B1_CLCN3


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 AP1B1_CLCN3


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
TgeneCLCN3C0017638Glioma1CTD_human
TgeneCLCN3C0038356Stomach Neoplasms1CTD_human
TgeneCLCN3C2931822Nasopharyngeal carcinoma1CTD_human