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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: 872

FusionGeneSummary for ADD1_SLC24A2

check button Fusion gene summary
Fusion gene informationFusion gene name: ADD1_SLC24A2
Fusion gene ID: 872
HgeneTgene
Gene symbol

ADD1

SLC24A2

Gene ID

118

25769

Gene nameadducin 1solute carrier family 24 member 2
SynonymsADDANCKX2
Cytomap

4p16.3

9p22.1-p21.3

Type of geneprotein-codingprotein-coding
Descriptionalpha-adducinadducin 1 (alpha)erythrocyte adducin alpha subunitsodium/potassium/calcium exchanger 2Na(+)/K(+)/Ca(2+)-exchange protein 2retinal cone Na-Ca+K exchangersolute carrier family 24 (sodium/potassium/calcium exchanger), member 2
Modification date2018052320180523
UniProtAcc

P35611

Q9UI40

Ensembl transtripts involved in fusion geneENST00000446856, ENST00000264758, 
ENST00000398125, ENST00000513328, 
ENST00000503455, ENST00000355842, 
ENST00000398123, ENST00000398129, 
ENST00000538860, 		ENST00000341998, 
ENST00000286344, 
Fusion gene scores* DoF score11 X 8 X 7=6166 X 6 X 5=180
# samples 137
** MAII scorelog2(13/616*10)=-2.24441872766645
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(7/180*10)=-1.36257007938471
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: ADD1 [Title/Abstract] AND SLC24A2 [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
HgeneADD1

GO:0032092

positive regulation of protein binding

3693401|7642559

HgeneADD1

GO:0051016

barbed-end actin filament capping

8626479

HgeneADD1

GO:0051017

actin filament bundle assembly

3693401

HgeneADD1

GO:0071277

cellular response to calcium ion

25978380

HgeneADD1

GO:1903142

positive regulation of establishment of endothelial barrier

25978380

HgeneADD1

GO:1903393

positive regulation of adherens junction organization

25978380

TgeneSLC24A2

GO:0034220

ion transmembrane transport

18166528


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
ChiTaRS3.1BI034953ADD1chr4

2895683

-SLC24A2chr9

19725743

+
* 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-intronENST00000446856ENST00000341998ADD1chr4

2895683

-SLC24A2chr9

19725743

+
intron-intronENST00000446856ENST00000286344ADD1chr4

2895683

-SLC24A2chr9

19725743

+
intron-intronENST00000264758ENST00000341998ADD1chr4

2895683

-SLC24A2chr9

19725743

+
intron-intronENST00000264758ENST00000286344ADD1chr4

2895683

-SLC24A2chr9

19725743

+
intron-intronENST00000398125ENST00000341998ADD1chr4

2895683

-SLC24A2chr9

19725743

+
intron-intronENST00000398125ENST00000286344ADD1chr4

2895683

-SLC24A2chr9

19725743

+
intron-intronENST00000513328ENST00000341998ADD1chr4

2895683

-SLC24A2chr9

19725743

+
intron-intronENST00000513328ENST00000286344ADD1chr4

2895683

-SLC24A2chr9

19725743

+
intron-intronENST00000503455ENST00000341998ADD1chr4

2895683

-SLC24A2chr9

19725743

+
intron-intronENST00000503455ENST00000286344ADD1chr4

2895683

-SLC24A2chr9

19725743

+
intron-intronENST00000355842ENST00000341998ADD1chr4

2895683

-SLC24A2chr9

19725743

+
intron-intronENST00000355842ENST00000286344ADD1chr4

2895683

-SLC24A2chr9

19725743

+
intron-intronENST00000398123ENST00000341998ADD1chr4

2895683

-SLC24A2chr9

19725743

+
intron-intronENST00000398123ENST00000286344ADD1chr4

2895683

-SLC24A2chr9

19725743

+
intron-intronENST00000398129ENST00000341998ADD1chr4

2895683

-SLC24A2chr9

19725743

+
intron-intronENST00000398129ENST00000286344ADD1chr4

2895683

-SLC24A2chr9

19725743

+
intron-intronENST00000538860ENST00000341998ADD1chr4

2895683

-SLC24A2chr9

19725743

+
intron-intronENST00000538860ENST00000286344ADD1chr4

2895683

-SLC24A2chr9

19725743

+

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FusionProtFeatures for ADD1_SLC24A2


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
ADD1

P35611

SLC24A2

Q9UI40

Critical component of the visual transduction cascade,controlling the calcium concentration of outer segments duringlight and darkness. Light causes a rapid lowering of cytosolicfree calcium in the outer segment of both retinal rod and conephotoreceptors and the light-induced lowering of calcium is causedby extrusion via this protein which plays a key role in theprocess of light adaptation. Transports 1 Ca(2+) and 1 K(+) inexchange for 4 Na(+).

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 ADD1_SLC24A2


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 ADD1_SLC24A2


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 ADD1_SLC24A2


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 ADD1_SLC24A2


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneADD1C0020538Hypertensive disease2CTD_human
HgeneADD1C2239176Liver carcinoma1CTD_human