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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: 34256

FusionGeneSummary for SLC25A44_RIPK2

check button Fusion gene summary
Fusion gene informationFusion gene name: SLC25A44_RIPK2
Fusion gene ID: 34256
HgeneTgene
Gene symbol

SLC25A44

RIPK2

Gene ID

9673

8767

Gene namesolute carrier family 25 member 44receptor interacting serine/threonine kinase 2
Synonyms-CARD3|CARDIAK|CCK|GIG30|RICK|RIP2
Cytomap

1q22

8q21.3

Type of geneprotein-codingprotein-coding
Descriptionsolute carrier family 25 member 44receptor-interacting serine/threonine-protein kinase 2CARD-carrying kinaseCARD-containing IL-1 beta ICE-kinaseCARD-containing interleukin-1 beta-converting enzyme (ICE)-associated kinaseRIP-2growth-inhibiting gene 30receptor-interacting protein (RIP
Modification date2018052220180523
UniProtAcc

Q96H78

O43353

Ensembl transtripts involved in fusion geneENST00000359511, ENST00000423538, 
ENST00000469537, 
ENST00000220751, 
ENST00000540020, 
Fusion gene scores* DoF score10 X 5 X 5=2503 X 5 X 5=75
# samples 105
** MAII scorelog2(10/250*10)=-1.32192809488736
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(5/75*10)=-0.584962500721156
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: SLC25A44 [Title/Abstract] AND RIPK2 [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
TgeneRIPK2

GO:0010800

positive regulation of peptidyl-threonine phosphorylation

21887730

TgeneRIPK2

GO:0010942

positive regulation of cell death

16920334

TgeneRIPK2

GO:0033138

positive regulation of peptidyl-serine phosphorylation

21887730

TgeneRIPK2

GO:0034134

toll-like receptor 2 signaling pathway

11894098

TgeneRIPK2

GO:0043123

positive regulation of I-kappaB kinase/NF-kappaB signaling

10329646

TgeneRIPK2

GO:0045087

innate immune response

23806334

TgeneRIPK2

GO:0050718

positive regulation of interleukin-1 beta secretion

11432859

TgeneRIPK2

GO:0050731

positive regulation of peptidyl-tyrosine phosphorylation

21887730

TgeneRIPK2

GO:0051092

positive regulation of NF-kappaB transcription factor activity

11821383

TgeneRIPK2

GO:0070431

nucleotide-binding oligomerization domain containing 2 signaling pathway

23806334

TgeneRIPK2

GO:0071225

cellular response to muramyl dipeptide

21887730

TgeneRIPK2

GO:0097202

activation of cysteine-type endopeptidase activity

11821383


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
ChiTaRS3.1BM929466SLC25A44chr1

156182470

-RIPK2chr8

90803215

+
* 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-3UTRENST00000359511ENST00000220751SLC25A44chr1

156182470

-RIPK2chr8

90803215

+
3UTR-intronENST00000359511ENST00000540020SLC25A44chr1

156182470

-RIPK2chr8

90803215

+
intron-3UTRENST00000423538ENST00000220751SLC25A44chr1

156182470

-RIPK2chr8

90803215

+
intron-intronENST00000423538ENST00000540020SLC25A44chr1

156182470

-RIPK2chr8

90803215

+
3UTR-3UTRENST00000469537ENST00000220751SLC25A44chr1

156182470

-RIPK2chr8

90803215

+
3UTR-intronENST00000469537ENST00000540020SLC25A44chr1

156182470

-RIPK2chr8

90803215

+

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FusionProtFeatures for SLC25A44_RIPK2


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
SLC25A44

Q96H78

RIPK2

O43353

Serine/threonine/tyrosine kinase that plays an essentialrole in modulation of innate and adaptive immune responses. Uponstimulation by bacterial peptidoglycans, NOD1 and NOD2 areactivated, oligomerize and recruit RIPK2 through CARD-CARDdomains. Contributes to the tyrosine phosphorylation of theguanine exchange factor ARHGEF2 through Src tyrosine kinaseleading to NF-kappaB activation by NOD2. Once recruited, RIPK2autophosphorylates and undergoes 'Lys-63'-linkedpolyubiquitination by E3 ubiquitin ligases XIAP, BIRC2 and BIRC3.The polyubiquitinated protein mediates the recruitment ofMAP3K7/TAK1 to IKBKG/NEMO and induces 'Lys-63'-linkedpolyubiquitination of IKBKG/NEMO and subsequent activation ofIKBKB/IKKB. In turn, NF-kappa-B is released from NF-kappa-Binhibitors and translocates into the nucleus where it activatesthe transcription of hundreds of genes involved in immuneresponse, growth control, or protection against apoptosis. Playsalso a role during engagement of the T-cell receptor (TCR) inpromoting BCL10 phosphorylation and subsequent NF-kappa-Bactivation. {ECO:0000269|PubMed:14638696,ECO:0000269|PubMed:17054981, ECO:0000269|PubMed:18079694,ECO:0000269|PubMed:21123652, ECO:0000269|PubMed:21887730}.

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 SLC25A44_RIPK2


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 SLC25A44_RIPK2


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 SLC25A44_RIPK2


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 SLC25A44_RIPK2


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
TgeneRIPK2C0009324Ulcerative Colitis1CTD_human