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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: 8527

FusionGeneSummary for CRTC1_KCNN1

check button Fusion gene summary
Fusion gene informationFusion gene name: CRTC1_KCNN1
Fusion gene ID: 8527
HgeneTgene
Gene symbol

CRTC1

KCNN1

Gene ID

23373

3780

Gene nameCREB regulated transcription coactivator 1potassium calcium-activated channel subfamily N member 1
SynonymsMECT1|TORC-1|TORC1|WAMTP1KCa2.1|SK1|SKCA1|hSK1
Cytomap

19p13.11

19p13.11

Type of geneprotein-codingprotein-coding
DescriptionCREB-regulated transcription coactivator 1mucoepidermoid carcinoma translocated protein 1transducer of regulated cAMP response element-binding protein (CREB) 1small conductance calcium-activated potassium channel protein 1potassium channel, calcium activated intermediate/small conductance subfamily N alpha, member 1potassium intermediate/small conductance calcium-activated channel, subfamily N, member 1small
Modification date2018052320180523
UniProtAcc

Q6UUV9

Q92952

Ensembl transtripts involved in fusion geneENST00000321949, ENST00000338797, 
ENST00000594658, ENST00000601916, 
ENST00000222249, ENST00000594192, 
Fusion gene scores* DoF score7 X 4 X 4=1123 X 2 X 3=18
# samples 93
** MAII scorelog2(9/112*10)=-0.315501825727929
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(3/18*10)=0.736965594166206
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
Context

PubMed: CRTC1 [Title/Abstract] AND KCNN1 [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
HgeneCRTC1

GO:0045944

positive regulation of transcription by RNA polymerase II

14536081


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
TCGARVUCECTCGA-AJ-A3BF-01ACRTC1chr19

18794638

+KCNN1chr19

18084617

+
* 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-5UTRENST00000321949ENST00000222249CRTC1chr19

18794638

+KCNN1chr19

18084617

+
5CDS-intronENST00000321949ENST00000594192CRTC1chr19

18794638

+KCNN1chr19

18084617

+
5CDS-5UTRENST00000338797ENST00000222249CRTC1chr19

18794638

+KCNN1chr19

18084617

+
5CDS-intronENST00000338797ENST00000594192CRTC1chr19

18794638

+KCNN1chr19

18084617

+
intron-5UTRENST00000594658ENST00000222249CRTC1chr19

18794638

+KCNN1chr19

18084617

+
intron-intronENST00000594658ENST00000594192CRTC1chr19

18794638

+KCNN1chr19

18084617

+
intron-5UTRENST00000601916ENST00000222249CRTC1chr19

18794638

+KCNN1chr19

18084617

+
intron-intronENST00000601916ENST00000594192CRTC1chr19

18794638

+KCNN1chr19

18084617

+

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FusionProtFeatures for CRTC1_KCNN1


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
CRTC1

Q6UUV9

KCNN1

Q92952

Forms a voltage-independent potassium channel activatedby intracellular calcium. Activation is followed by membranehyperpolarization. Thought to regulate neuronal excitability bycontributing to the slow component of synapticafterhyperpolarization. The channel is blocked by apamin (Bysimilarity). {ECO:0000250}.

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 CRTC1_KCNN1


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 CRTC1_KCNN1


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
CRTC1CREB1, MAP3K1, MEIS1, YWHAE, CREBBP, EP300, SRPK2, XPO1, KCTD3, KIF13B, CBY1KCNN1


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 CRTC1_KCNN1


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.0 2018-04-02)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status
TgeneKCNN1Q92952DB01110MiconazoleSmall conductance calcium-activated potassium channel protein 1small moleculeapproved|investigational|vet_approved

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RelatedDiseases for CRTC1_KCNN1


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneCRTC1C0279628Adenocarcinoma Of Esophagus1CTD_human
HgeneCRTC1C0525045Mood Disorders1PSYGENET