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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: 6139

FusionGeneSummary for CD244_AHCYL2

check button Fusion gene summary
Fusion gene informationFusion gene name: CD244_AHCYL2
Fusion gene ID: 6139
HgeneTgene
Gene symbol

CD244

AHCYL2

Gene ID

51744

23382

Gene nameCD244 moleculeadenosylhomocysteinase like 2
Synonyms2B4|NAIL|NKR2B4|Nmrk|SLAMF4ADOHCYASE3|IRBIT2
Cytomap

1q23.3

7q32.1

Type of geneprotein-codingprotein-coding
Descriptionnatural killer cell receptor 2B4CD244 molecule, natural killer cell receptor 2B4NK cell activation inducing ligand NAILNK cell activation-inducing ligandNK cell type I receptor protein 2B4SLAM family member 4h2B4signaling lymphocytic activation moladenosylhomocysteinase 3IP(3)Rs binding protein released with IP(3) 2S-adenosyl-L-homocysteine hydrolase 3S-adenosylhomocysteine hydrolase-like 2long-IRBITputative adenosylhomocysteinase 3
Modification date2018051920180523
UniProtAcc

Q9BZW8

Q96HN2

Ensembl transtripts involved in fusion geneENST00000368034, ENST00000368033, 
ENST00000322302, ENST00000368032, 
ENST00000481677, 
ENST00000325006, 
ENST00000446544, ENST00000531335, 
ENST00000474594, ENST00000446212, 
ENST00000490911, ENST00000472554, 
Fusion gene scores* DoF score2 X 2 X 2=87 X 5 X 5=175
# samples 27
** MAII scorelog2(2/8*10)=1.32192809488736log2(7/175*10)=-1.32192809488736
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: CD244 [Title/Abstract] AND AHCYL2 [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
HgeneCD244

GO:0002323

natural killer cell activation involved in immune response

11714776

HgeneCD244

GO:0060732

positive regulation of inositol phosphate biosynthetic process

8376943

HgeneCD244

GO:0071663

positive regulation of granzyme B production

11714776

HgeneCD244

GO:1902715

positive regulation of interferon-gamma secretion

11714776

HgeneCD244

GO:2000484

positive regulation of interleukin-8 secretion

8376943


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
ChiTaRS3.1AW947006CD244chr1

160810825

+AHCYL2chr7

129069615

-
* 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-3UTRENST00000368034ENST00000325006CD244chr1

160810825

+AHCYL2chr7

129069615

-
intron-3UTRENST00000368034ENST00000446544CD244chr1

160810825

+AHCYL2chr7

129069615

-
intron-3UTRENST00000368034ENST00000531335CD244chr1

160810825

+AHCYL2chr7

129069615

-
intron-intronENST00000368034ENST00000474594CD244chr1

160810825

+AHCYL2chr7

129069615

-
intron-3UTRENST00000368034ENST00000446212CD244chr1

160810825

+AHCYL2chr7

129069615

-
intron-intronENST00000368034ENST00000490911CD244chr1

160810825

+AHCYL2chr7

129069615

-
intron-intronENST00000368034ENST00000472554CD244chr1

160810825

+AHCYL2chr7

129069615

-
intron-3UTRENST00000368033ENST00000325006CD244chr1

160810825

+AHCYL2chr7

129069615

-
intron-3UTRENST00000368033ENST00000446544CD244chr1

160810825

+AHCYL2chr7

129069615

-
intron-3UTRENST00000368033ENST00000531335CD244chr1

160810825

+AHCYL2chr7

129069615

-
intron-intronENST00000368033ENST00000474594CD244chr1

160810825

+AHCYL2chr7

129069615

-
intron-3UTRENST00000368033ENST00000446212CD244chr1

160810825

+AHCYL2chr7

129069615

-
intron-intronENST00000368033ENST00000490911CD244chr1

160810825

+AHCYL2chr7

129069615

-
intron-intronENST00000368033ENST00000472554CD244chr1

160810825

+AHCYL2chr7

129069615

-
intron-3UTRENST00000322302ENST00000325006CD244chr1

160810825

+AHCYL2chr7

129069615

-
intron-3UTRENST00000322302ENST00000446544CD244chr1

160810825

+AHCYL2chr7

129069615

-
intron-3UTRENST00000322302ENST00000531335CD244chr1

160810825

+AHCYL2chr7

129069615

-
intron-intronENST00000322302ENST00000474594CD244chr1

160810825

+AHCYL2chr7

129069615

-
intron-3UTRENST00000322302ENST00000446212CD244chr1

160810825

+AHCYL2chr7

129069615

-
intron-intronENST00000322302ENST00000490911CD244chr1

160810825

+AHCYL2chr7

129069615

-
intron-intronENST00000322302ENST00000472554CD244chr1

160810825

+AHCYL2chr7

129069615

-
intron-3UTRENST00000368032ENST00000325006CD244chr1

160810825

+AHCYL2chr7

129069615

-
intron-3UTRENST00000368032ENST00000446544CD244chr1

160810825

+AHCYL2chr7

129069615

-
intron-3UTRENST00000368032ENST00000531335CD244chr1

160810825

+AHCYL2chr7

129069615

-
intron-intronENST00000368032ENST00000474594CD244chr1

160810825

+AHCYL2chr7

129069615

-
intron-3UTRENST00000368032ENST00000446212CD244chr1

160810825

+AHCYL2chr7

129069615

-
intron-intronENST00000368032ENST00000490911CD244chr1

160810825

+AHCYL2chr7

129069615

-
intron-intronENST00000368032ENST00000472554CD244chr1

160810825

+AHCYL2chr7

129069615

-
intron-3UTRENST00000481677ENST00000325006CD244chr1

160810825

+AHCYL2chr7

129069615

-
intron-3UTRENST00000481677ENST00000446544CD244chr1

160810825

+AHCYL2chr7

129069615

-
intron-3UTRENST00000481677ENST00000531335CD244chr1

160810825

+AHCYL2chr7

129069615

-
intron-intronENST00000481677ENST00000474594CD244chr1

160810825

+AHCYL2chr7

129069615

-
intron-3UTRENST00000481677ENST00000446212CD244chr1

160810825

+AHCYL2chr7

129069615

-
intron-intronENST00000481677ENST00000490911CD244chr1

160810825

+AHCYL2chr7

129069615

-
intron-intronENST00000481677ENST00000472554CD244chr1

160810825

+AHCYL2chr7

129069615

-

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FusionProtFeatures for CD244_AHCYL2


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
CD244

Q9BZW8

AHCYL2

Q96HN2

Heterophilic receptor of the signaling lymphocyticactivation molecule (SLAM) family; its ligand is CD48. SLAMreceptors triggered by homo- or heterotypic cell-cell interactionsare modulating the activation and differentiation of a widevariety of immune cells and thus are involved in the regulationand interconnection of both innate and adaptive immune response.Activities are controlled by presence or absence of smallcytoplasmic adapter proteins, SH2D1A/SAP and/or SH2D1B/EAT-2. Actsas activating natural killer (NK) cell receptor (PubMed:10359122,PubMed:8376943, PubMed:11714776). Activating function implicatesassociation with SH2D1A and FYN (PubMed:15713798). Downstreamingsignaling involves predominantly VAV1, and, to a lesser degree,INPP5D/SHIP1 and CBL. Signal attenuation in the absence of SH2D1Ais proposed to be dependent on INPP5D and to a lesser extentPTPN6/SHP-1 and PTPN11/SHP-2 (PubMed:10934222, PubMed:15713798).Stimulates NK cell cytotoxicity, production of IFN-gamma andgranule exocytosis (PubMed:8376943, PubMed:11714776). Optimalexpansion and activation of NK cells seems to be dependent on theengagement of CD244 with CD48 expressed on neighboring NK cells(By similarity). Acts as costimulator in NK activation byenhancing signals by other NK receptors such as NCR3 and NCR1(PubMed:10741393). At early stages of NK cell differentiation mayfunction as an inhibitory receptor possibly ensuring the self-tolerance of developing NK cells (PubMed:11917118). Involved inthe regulation of CD8(+) T-cell proliferation; expression onactivated T-cells and binding to CD488 provides costimulatory-likefunction for neighboring T-cells (By similarity). Inhibitsinflammatory responses in dendritic cells (DCs) (By similarity).{ECO:0000250|UniProtKB:Q07763, ECO:0000269|PubMed:10359122,ECO:0000269|PubMed:10741393, ECO:0000269|PubMed:10934222,ECO:0000269|PubMed:11714776, ECO:0000269|PubMed:11917118,ECO:0000269|PubMed:8376943, ECO:0000305|PubMed:15713798}. May regulate the electrogenic sodium/bicarbonatecotransporter SLC4A4 activity and Mg(2+)-sensitivity. On thecontrary of its homolog AHCYL1, does not regulate ITPR1sensitivity to inositol 1,4,5-trisphosphate (PubMed:19220705).{ECO:0000250|UniProtKB:A6QLP2, ECO:0000269|PubMed:19220705}.

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 CD244_AHCYL2


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 CD244_AHCYL2


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 CD244_AHCYL2


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 CD244_AHCYL2


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneCD244C0003873Rheumatoid Arthritis1CTD_human
TgeneAHCYL2C0033578Prostatic Neoplasms1CTD_human