FusionGDB Logo

Home

Download

Statistics

Examples

Help

Contact
Center for Computational Systems Medicine
leaf

FusionGeneSummary

leaf

FusionProtFeature

leaf

FusionGeneSequence

leaf

FusionGenePPI

leaf

RelatedDrugs

leaf

RelatedDiseases

Fusion gene ID: 7322

FusionGeneSummary for CLCN4_APP

check button Fusion gene summary
Fusion gene informationFusion gene name: CLCN4_APP
Fusion gene ID: 7322
HgeneTgene
Gene symbol

CLCN4

APP

Gene ID

1183

351

Gene namechloride voltage-gated channel 4amyloid beta precursor protein
SynonymsCLC4|ClC-4|ClC-4A|MRX15|MRX49AAA|ABETA|ABPP|AD1|APPI|CTFgamma|CVAP|PN-II|PN2|preA4
Cytomap

Xp22.2

21q21.3

Type of geneprotein-codingprotein-coding
DescriptionH(+)/Cl(-) exchange transporter 4chloride channel 4chloride channel protein 4chloride channel, voltage-sensitive 4chloride transporter ClC-4amyloid-beta A4 proteinalzheimer disease amyloid proteinamyloid beta (A4) precursor proteinamyloid beta A4 proteinamyloid precursor proteinbeta-amyloid peptidebeta-amyloid peptide(1-40)beta-amyloid peptide(1-42)beta-amyloid precursor proteincereb
Modification date2018052320180527
UniProtAcc

P51793

P05067

Ensembl transtripts involved in fusion geneENST00000380833, ENST00000380829, 
ENST00000421085, 		ENST00000346798, 
ENST00000354192, ENST00000348990, 
ENST00000357903, ENST00000358918, 
ENST00000359726, ENST00000448388, 
ENST00000440126, ENST00000439274, 
ENST00000474136, 
Fusion gene scores* DoF score4 X 4 X 3=4816 X 17 X 6=1632
# samples 420
** MAII scorelog2(4/48*10)=-0.263034405833794
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(20/1632*10)=-3.02856915219677
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: CLCN4 [Title/Abstract] AND APP [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
HgeneCLCN4

GO:0006821

chloride transport

10564087

TgeneAPP

GO:0001934

positive regulation of protein phosphorylation

11404397

TgeneAPP

GO:0008285

negative regulation of cell proliferation

22944668


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
ChiTaRS3.1AV728963CLCN4chrX

10166101

+APPchr21

27253883

-
* 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-3UTRENST00000380833ENST00000346798CLCN4chrX

10166101

+APPchr21

27253883

-
5CDS-3UTRENST00000380833ENST00000354192CLCN4chrX

10166101

+APPchr21

27253883

-
5CDS-3UTRENST00000380833ENST00000348990CLCN4chrX

10166101

+APPchr21

27253883

-
5CDS-3UTRENST00000380833ENST00000357903CLCN4chrX

10166101

+APPchr21

27253883

-
5CDS-3UTRENST00000380833ENST00000358918CLCN4chrX

10166101

+APPchr21

27253883

-
5CDS-3UTRENST00000380833ENST00000359726CLCN4chrX

10166101

+APPchr21

27253883

-
5CDS-3UTRENST00000380833ENST00000448388CLCN4chrX

10166101

+APPchr21

27253883

-
5CDS-3UTRENST00000380833ENST00000440126CLCN4chrX

10166101

+APPchr21

27253883

-
5CDS-3UTRENST00000380833ENST00000439274CLCN4chrX

10166101

+APPchr21

27253883

-
5CDS-intronENST00000380833ENST00000474136CLCN4chrX

10166101

+APPchr21

27253883

-
5CDS-3UTRENST00000380829ENST00000346798CLCN4chrX

10166101

+APPchr21

27253883

-
5CDS-3UTRENST00000380829ENST00000354192CLCN4chrX

10166101

+APPchr21

27253883

-
5CDS-3UTRENST00000380829ENST00000348990CLCN4chrX

10166101

+APPchr21

27253883

-
5CDS-3UTRENST00000380829ENST00000357903CLCN4chrX

10166101

+APPchr21

27253883

-
5CDS-3UTRENST00000380829ENST00000358918CLCN4chrX

10166101

+APPchr21

27253883

-
5CDS-3UTRENST00000380829ENST00000359726CLCN4chrX

10166101

+APPchr21

27253883

-
5CDS-3UTRENST00000380829ENST00000448388CLCN4chrX

10166101

+APPchr21

27253883

-
5CDS-3UTRENST00000380829ENST00000440126CLCN4chrX

10166101

+APPchr21

27253883

-
5CDS-3UTRENST00000380829ENST00000439274CLCN4chrX

10166101

+APPchr21

27253883

-
5CDS-intronENST00000380829ENST00000474136CLCN4chrX

10166101

+APPchr21

27253883

-
5CDS-3UTRENST00000421085ENST00000346798CLCN4chrX

10166101

+APPchr21

27253883

-
5CDS-3UTRENST00000421085ENST00000354192CLCN4chrX

10166101

+APPchr21

27253883

-
5CDS-3UTRENST00000421085ENST00000348990CLCN4chrX

10166101

+APPchr21

27253883

-
5CDS-3UTRENST00000421085ENST00000357903CLCN4chrX

10166101

+APPchr21

27253883

-
5CDS-3UTRENST00000421085ENST00000358918CLCN4chrX

10166101

+APPchr21

27253883

-
5CDS-3UTRENST00000421085ENST00000359726CLCN4chrX

10166101

+APPchr21

27253883

-
5CDS-3UTRENST00000421085ENST00000448388CLCN4chrX

10166101

+APPchr21

27253883

-
5CDS-3UTRENST00000421085ENST00000440126CLCN4chrX

10166101

+APPchr21

27253883

-
5CDS-3UTRENST00000421085ENST00000439274CLCN4chrX

10166101

+APPchr21

27253883

-
5CDS-intronENST00000421085ENST00000474136CLCN4chrX

10166101

+APPchr21

27253883

-

Top

FusionProtFeatures for CLCN4_APP


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
CLCN4

P51793

APP

P05067

Proton-coupled chloride transporter. Functions asantiport system and exchanges chloride ions against protons.{ECO:0000269|PubMed:23647072, ECO:0000269|PubMed:25644381}.

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


Top

FusionGeneSequence for CLCN4_APP


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).

Top

FusionGenePPI for CLCN4_APP


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


Top

RelatedDrugs for CLCN4_APP


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.0 2018-04-02)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status
TgeneAPPP05067DB06782DimercaprolAmyloid-beta A4 proteinsmall moleculeapproved
TgeneAPPP05067DB09148Florbetaben (18F)Amyloid-beta A4 proteinsmall moleculeapproved
TgeneAPPP05067DB00746DeferoxamineAmyloid-beta A4 proteinsmall moleculeapproved|investigational
TgeneAPPP05067DB01370AluminiumAmyloid-beta A4 proteinsmall moleculeapproved|investigational
TgeneAPPP05067DB01593ZincAmyloid-beta A4 proteinsmall moleculeapproved|investigational
TgeneAPPP05067DB09149Florbetapir (18F)Amyloid-beta A4 proteinsmall moleculeapproved|investigational
TgeneAPPP05067DB09151Flutemetamol (18F)Amyloid-beta A4 proteinsmall moleculeapproved|investigational

Top

RelatedDiseases for CLCN4_APP


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneCLCN4C3887959MENTAL RETARDATION, X-LINKED 492UNIPROT
TgeneAPPC0002395Alzheimer's Disease55CTD_human;HPO;ORPHANET;UNIPROT
TgeneAPPC0025261Memory Disorders12CTD_human
TgeneAPPC0027746Nerve Degeneration11CTD_human
TgeneAPPC0023186Learning Disorders6CTD_human
TgeneAPPC0011570Mental Depression5PSYGENET
TgeneAPPC0011581Depressive disorder5PSYGENET
TgeneAPPC2751536CEREBRAL AMYLOID ANGIOPATHY, APP-RELATED5ORPHANET;UNIPROT
TgeneAPPC0009241Cognition Disorders4CTD_human
TgeneAPPC0522224Paralysed4CTD_human
TgeneAPPC0524851Neurodegenerative Disorders2CTD_human
TgeneAPPC0600467Neurogenic Inflammation2CTD_human
TgeneAPPC2931672Cerebral hemorrhage with amyloidosis, hereditary, Dutch type2CTD_human;ORPHANET
TgeneAPPC0002622Amnesia1CTD_human
TgeneAPPC0002726Amyloidosis1CTD_human
TgeneAPPC0003469Anxiety Disorders1CTD_human
TgeneAPPC0005586Bipolar Disorder1PSYGENET
TgeneAPPC0006111Brain Diseases1CTD_human
TgeneAPPC0011573Endogenous depression1PSYGENET
TgeneAPPC0016667Fragile X Syndrome1CTD_human
TgeneAPPC0023893Liver Cirrhosis, Experimental1CTD_human
TgeneAPPC0027540Necrosis1CTD_human
TgeneAPPC0037928Spinal Cord Diseases1CTD_human
TgeneAPPC0038002Splenomegaly1CTD_human
TgeneAPPC0043094Weight Gain1CTD_human
TgeneAPPC0085220Cerebral Amyloid Angiopathy1CTD_human;HPO
TgeneAPPC0231341Premature aging syndrome1CTD_human
TgeneAPPC0338656Impaired cognition1CTD_human
TgeneAPPC0497327Dementia1CTD_human;HPO
TgeneAPPC2936349Plaque, Amyloid1CTD_human