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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: 34023

FusionGeneSummary for SLC12A2_ATF5

check button Fusion gene summary
Fusion gene informationFusion gene name: SLC12A2_ATF5
Fusion gene ID: 34023
HgeneTgene
Gene symbol

SLC12A2

ATF5

Gene ID

6558

22809

Gene namesolute carrier family 12 member 2activating transcription factor 5
SynonymsBSC|BSC2|NKCC1|PPP1R141ATFX|HMFN0395
Cytomap

5q23.3

19q13.33

Type of geneprotein-codingprotein-coding
Descriptionsolute carrier family 12 member 2basolateral Na-K-Cl symporterbumetanide-sensitive sodium-(potassium)-chloride cotransporter 1protein phosphatase 1, regulatory subunit 141solute carrier family 12 (sodium/potassium/chloride transporter), member 2solutcyclic AMP-dependent transcription factor ATF-5cAMP-dependent transcription factor ATF-5transcription factor ATFx
Modification date2018052320180523
UniProtAcc

P55011

Q9Y2D1

Ensembl transtripts involved in fusion geneENST00000262461, ENST00000343225, 
ENST00000507791, 
ENST00000595125, 
ENST00000423777, ENST00000600336, 
Fusion gene scores* DoF score9 X 6 X 4=2165 X 5 X 2=50
# samples 95
** MAII scorelog2(9/216*10)=-1.26303440583379
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(5/50*10)=0
Context

PubMed: SLC12A2 [Title/Abstract] AND ATF5 [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
HgeneSLC12A2

GO:0015696

ammonium transport

12946942|18032481

HgeneSLC12A2

GO:0030321

transepithelial chloride transport

12946942

HgeneSLC12A2

GO:0070634

transepithelial ammonium transport

18032481

TgeneATF5

GO:0006355

regulation of transcription, DNA-templated

20654631

TgeneATF5

GO:0008285

negative regulation of cell proliferation

22528486

TgeneATF5

GO:0045892

negative regulation of transcription, DNA-templated

22528486

TgeneATF5

GO:0045893

positive regulation of transcription, DNA-templated

21212266|25512613

TgeneATF5

GO:0045944

positive regulation of transcription by RNA polymerase II

16300731

TgeneATF5

GO:0046605

regulation of centrosome cycle

26213385

TgeneATF5

GO:1902750

negative regulation of cell cycle G2/M phase transition

22528486


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
ChiTaRS3.1BQ322269SLC12A2chr5

127524250

-ATF5chr19

50436438

-
* 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
3UTR-3UTRENST00000262461ENST00000595125SLC12A2chr5

127524250

-ATF5chr19

50436438

-
3UTR-3UTRENST00000262461ENST00000423777SLC12A2chr5

127524250

-ATF5chr19

50436438

-
3UTR-intronENST00000262461ENST00000600336SLC12A2chr5

127524250

-ATF5chr19

50436438

-
intron-3UTRENST00000343225ENST00000595125SLC12A2chr5

127524250

-ATF5chr19

50436438

-
intron-3UTRENST00000343225ENST00000423777SLC12A2chr5

127524250

-ATF5chr19

50436438

-
intron-intronENST00000343225ENST00000600336SLC12A2chr5

127524250

-ATF5chr19

50436438

-
intron-3UTRENST00000507791ENST00000595125SLC12A2chr5

127524250

-ATF5chr19

50436438

-
intron-3UTRENST00000507791ENST00000423777SLC12A2chr5

127524250

-ATF5chr19

50436438

-
intron-intronENST00000507791ENST00000600336SLC12A2chr5

127524250

-ATF5chr19

50436438

-

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FusionProtFeatures for SLC12A2_ATF5


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
SLC12A2

P55011

ATF5

Q9Y2D1

Electrically silent transporter system. Mediates sodiumand chloride reabsorption. Plays a vital role in the regulation ofionic balance and cell volume. Transcription factor that either stimulates or repressesgene transcription through binding of different DNA regulatoryelements such as cAMP response element (CRE) (consensus: 5'-GTGACGT[AC][AG]-3'), ATF5-specific response element (ARE)(consensus: 5'-C[CT]TCT[CT]CCTT[AT]-3') but also the amino acidresponse element (AARE), present in many viral and cellularpromoters. Critically involved, often in a cell type-dependentmanner, in cell survival, proliferation, and differentiation(PubMed:10373550, PubMed:15358120, PubMed:21212266,PubMed:20654631). Its transcriptional activity is enhanced byCCND3 and slightly inhibited by CDK4 (PubMed:15358120). Importantregulator of the cerebral cortex formation, functions in cerebralcortical neuroprogenitor cells to maintain proliferation and toblock differentiation into neurons. Must be down-regulated inorder for such cells to exit the cycle and differentiate (Bysimilarity). Participates in the pathways by which SHH promotescerebellar granule neuron progenitor cells proliferation (Bysimilarity). Critical for survival of mature olfactory sensoryneurons (OSN), directs expression of OSN-specific genes (Bysimilarity). May be involved in osteogenic differentiation(PubMed:22442021). Promotes cell proliferation and survival byinducing the expression of EGR1 sinergistically with ELK1. Onceacetylated by EP300, binds to ARE sequences on target genespromoters, such as BCL2 and EGR1 (PubMed:21791614). Plays an anti-apoptotic role through the transcriptional regulation of BCL2,this function seems to be cell type-dependent (By similarity).Cooperates with NR1I3/CAR in the transcriptional activation ofCYP2B6 in liver (PubMed:18332083). In hepatic cells, repressesCRE-dependent transcription and inhibits proliferation by blockingat G2/M phase (PubMed:22528486, PubMed:18701499). May act as anegative regulator of IL1B transduction pathway in liver(PubMed:24379400). Upon IL1B stimulus, cooperates with NLK toactivate the transactivation activity of C/EBP subfamily members(PubMed:25512613). Besides its function of transcription factor,acts as a cofactor of CEBPB to activate CEBPA and promoteadipocyte differentiation (PubMed:24216764). Regulates centrosomedynamics in a cell-cycle- and centriole-age-dependent manner.Forms 9-foci symmetrical ring scaffold around the mother centrioleto control centrosome function and the interaction betweencentrioles and pericentriolar material (PubMed:26213385).{ECO:0000250|UniProtKB:O70191, ECO:0000250|UniProtKB:Q6P788,ECO:0000269|PubMed:10373550, ECO:0000269|PubMed:15358120,ECO:0000269|PubMed:18332083, ECO:0000269|PubMed:18701499,ECO:0000269|PubMed:20654631, ECO:0000269|PubMed:21212266,ECO:0000269|PubMed:21791614, ECO:0000269|PubMed:22442021,ECO:0000269|PubMed:22528486, ECO:0000269|PubMed:24216764,ECO:0000269|PubMed:24379400, ECO:0000269|PubMed:25512613,ECO:0000269|PubMed:26213385}.

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 SLC12A2_ATF5


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 SLC12A2_ATF5


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 SLC12A2_ATF5


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.0 2018-04-02)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status
HgeneSLC12A2P55011DB00887BumetanideSolute carrier family 12 member 2small moleculeapproved
HgeneSLC12A2P55011DB01325QuinethazoneSolute carrier family 12 member 2small moleculeapproved
HgeneSLC12A2P55011DB00761Potassium ChlorideSolute carrier family 12 member 2small moleculeapproved|withdrawn

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RelatedDiseases for SLC12A2_ATF5


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneSLC12A2C0036341Schizophrenia4PSYGENET
HgeneSLC12A2C0007222Cardiovascular Diseases1CTD_human
HgeneSLC12A2C0014544Epilepsy1CTD_human
HgeneSLC12A2C0014556Epilepsy, Temporal Lobe1CTD_human
HgeneSLC12A2C0020538Hypertensive disease1CTD_human
HgeneSLC12A2C0024667Animal Mammary Neoplasms1CTD_human
HgeneSLC12A2C0024668Mammary Neoplasms, Experimental1CTD_human
HgeneSLC12A2C0026650Movement Disorders1CTD_human
HgeneSLC12A2C0033578Prostatic Neoplasms1CTD_human
HgeneSLC12A2C0033975Psychotic Disorders1PSYGENET
HgeneSLC12A2C0271650Impaired glucose tolerance1CTD_human
TgeneATF5C0005586Bipolar Disorder1PSYGENET