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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: 18423

FusionGeneSummary for KDM2B_ORAI1

check button Fusion gene summary
Fusion gene informationFusion gene name: KDM2B_ORAI1
Fusion gene ID: 18423
HgeneTgene
Gene symbol

KDM2B

ORAI1

Gene ID

84678

84876

Gene namelysine demethylase 2BORAI calcium release-activated calcium modulator 1
SynonymsCXXC2|FBXL10|Fbl10|JHDM1B|PCCX2CRACM1|IMD9|ORAT1|TAM2|TMEM142A
Cytomap

12q24.31

12q24.31

Type of geneprotein-codingprotein-coding
Descriptionlysine-specific demethylase 2BCXXC-type zinc finger protein 2F-box and leucine-rich repeat protein 10F-box protein FBL10F-box/LRR-repeat protein 10JEMMA (Jumonji domain, EMSY-interactor, methyltransferase motif) protein[Histone-H3]-lysine-36 demethycalcium release-activated calcium channel protein 1calcium release-activated calcium modulator 1protein orai-1transmembrane protein 142A
Modification date2018051920180527
UniProtAcc

Q8NHM5

Q96D31

Ensembl transtripts involved in fusion geneENST00000377069, ENST00000542973, 
ENST00000377071, ENST00000536437, 
ENST00000538046, ENST00000543852, 
ENST00000330079, 
Fusion gene scores* DoF score8 X 6 X 7=3364 X 1 X 6=24
# samples 86
** MAII scorelog2(8/336*10)=-2.0703893278914
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(6/24*10)=1.32192809488736
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
Context

PubMed: KDM2B [Title/Abstract] AND ORAI1 [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
HgeneKDM2B

GO:0035518

histone H2A monoubiquitination

16943429

TgeneORAI1

GO:0002115

store-operated calcium entry

28219928

TgeneORAI1

GO:0051928

positive regulation of calcium ion transport

16645049|16733527|16766533|16807233


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
TCGARVTGCTTCGA-2G-AAL5-01AKDM2Bchr12

122012452

-ORAI1chr12

122078947

+
* 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
In-frameENST00000377069ENST00000330079KDM2Bchr12

122012452

-ORAI1chr12

122078947

+
intron-3CDSENST00000542973ENST00000330079KDM2Bchr12

122012452

-ORAI1chr12

122078947

+
In-frameENST00000377071ENST00000330079KDM2Bchr12

122012452

-ORAI1chr12

122078947

+
Frame-shiftENST00000536437ENST00000330079KDM2Bchr12

122012452

-ORAI1chr12

122078947

+
In-frameENST00000538046ENST00000330079KDM2Bchr12

122012452

-ORAI1chr12

122078947

+
intron-3CDSENST00000543852ENST00000330079KDM2Bchr12

122012452

-ORAI1chr12

122078947

+

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FusionProtFeatures for KDM2B_ORAI1


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
KDM2B

Q8NHM5

ORAI1

Q96D31

Ca(2+) release-activated Ca(2+) (CRAC) channel subunitwhich mediates Ca(2+) influx following depletion of intracellularCa(2+) stores and channel activation by the Ca(2+) sensor, STIM1(PubMed:16582901, PubMed:16645049, PubMed:16733527,PubMed:16766533, PubMed:16807233, PubMed:19249086,PubMed:23307288, PubMed:24351972, PubMed:24591628,PubMed:28219928). CRAC channels are the main pathway for Ca(2+)influx in T-cells and promote the immune response to pathogens byactivating the transcription factor NFAT (PubMed:16582901).{ECO:0000269|PubMed:16582901, ECO:0000269|PubMed:16645049,ECO:0000269|PubMed:16733527, ECO:0000269|PubMed:16766533,ECO:0000269|PubMed:16807233, ECO:0000269|PubMed:19249086,ECO:0000269|PubMed:23307288, ECO:0000269|PubMed:24351972,ECO:0000269|PubMed:24591628, ECO:0000269|PubMed:28219928}.

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
TgeneORAI1chr12:122012452chr12:122078947ENST00000330079+02106_119103304Topological domainExtracellular
TgeneORAI1chr12:122012452chr12:122078947ENST00000330079+02141_173103304Topological domainCytoplasmic
TgeneORAI1chr12:122012452chr12:122078947ENST00000330079+02195_234103304Topological domainExtracellular
TgeneORAI1chr12:122012452chr12:122078947ENST00000330079+02256_301103304Topological domainCytoplasmic
TgeneORAI1chr12:122012452chr12:122078947ENST00000330079+02120_140103304TransmembraneHelical
TgeneORAI1chr12:122012452chr12:122078947ENST00000330079+02174_194103304TransmembraneHelical
TgeneORAI1chr12:122012452chr12:122078947ENST00000330079+02235_255103304TransmembraneHelical

- In-frame and not-retained protein feature among the 13 regional features.
>>>>>>>>>>>>>>>>>>>>>>>>>>>>>>>>>>>>>>>>>>
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgeneKDM2Bchr12:122012452chr12:122078947ENST00000377069-423943_9711011266Coiled coilOntology_term=ECO:0000255
HgeneKDM2Bchr12:122012452chr12:122078947ENST00000377071-423943_9711321337Coiled coilOntology_term=ECO:0000255
HgeneKDM2Bchr12:122012452chr12:122078947ENST00000542973-114943_971-130912Coiled coilOntology_term=ECO:0000255
HgeneKDM2Bchr12:122012452chr12:122078947ENST00000377069-4231014_10561011266Compositional biasNote=Pro-rich
HgeneKDM2Bchr12:122012452chr12:122078947ENST00000377069-423409_4301011266Compositional biasNote=Glu-rich
HgeneKDM2Bchr12:122012452chr12:122078947ENST00000377071-4231014_10561321337Compositional biasNote=Pro-rich
HgeneKDM2Bchr12:122012452chr12:122078947ENST00000377071-423409_4301321337Compositional biasNote=Glu-rich
HgeneKDM2Bchr12:122012452chr12:122078947ENST00000542973-1141014_1056-130912Compositional biasNote=Pro-rich
HgeneKDM2Bchr12:122012452chr12:122078947ENST00000542973-114409_430-130912Compositional biasNote=Glu-rich
HgeneKDM2Bchr12:122012452chr12:122078947ENST00000377069-4231059_11051011266DomainNote=F-box
HgeneKDM2Bchr12:122012452chr12:122078947ENST00000377069-423178_3461011266DomainJmjC
HgeneKDM2Bchr12:122012452chr12:122078947ENST00000377071-4231059_11051321337DomainNote=F-box
HgeneKDM2Bchr12:122012452chr12:122078947ENST00000377071-423178_3461321337DomainJmjC
HgeneKDM2Bchr12:122012452chr12:122078947ENST00000542973-1141059_1105-130912DomainNote=F-box
HgeneKDM2Bchr12:122012452chr12:122078947ENST00000542973-114178_346-130912DomainJmjC
HgeneKDM2Bchr12:122012452chr12:122078947ENST00000377069-4231093_11201011266RepeatNote=LRR 1
HgeneKDM2Bchr12:122012452chr12:122078947ENST00000377069-4231133_11541011266RepeatNote=LRR 2
HgeneKDM2Bchr12:122012452chr12:122078947ENST00000377069-4231156_11821011266RepeatNote=LRR 3
HgeneKDM2Bchr12:122012452chr12:122078947ENST00000377069-4231222_12471011266RepeatNote=LRR 4
HgeneKDM2Bchr12:122012452chr12:122078947ENST00000377069-4231248_12771011266RepeatNote=LRR 5
HgeneKDM2Bchr12:122012452chr12:122078947ENST00000377069-4231278_13021011266RepeatNote=LRR 6
HgeneKDM2Bchr12:122012452chr12:122078947ENST00000377069-4231303_13361011266RepeatNote=LRR 7
HgeneKDM2Bchr12:122012452chr12:122078947ENST00000377071-4231093_11201321337RepeatNote=LRR 1
HgeneKDM2Bchr12:122012452chr12:122078947ENST00000377071-4231133_11541321337RepeatNote=LRR 2
HgeneKDM2Bchr12:122012452chr12:122078947ENST00000377071-4231156_11821321337RepeatNote=LRR 3
HgeneKDM2Bchr12:122012452chr12:122078947ENST00000377071-4231222_12471321337RepeatNote=LRR 4
HgeneKDM2Bchr12:122012452chr12:122078947ENST00000377071-4231248_12771321337RepeatNote=LRR 5
HgeneKDM2Bchr12:122012452chr12:122078947ENST00000377071-4231278_13021321337RepeatNote=LRR 6
HgeneKDM2Bchr12:122012452chr12:122078947ENST00000377071-4231303_13361321337RepeatNote=LRR 7
HgeneKDM2Bchr12:122012452chr12:122078947ENST00000542973-1141093_1120-130912RepeatNote=LRR 1
HgeneKDM2Bchr12:122012452chr12:122078947ENST00000542973-1141133_1154-130912RepeatNote=LRR 2
HgeneKDM2Bchr12:122012452chr12:122078947ENST00000542973-1141156_1182-130912RepeatNote=LRR 3
HgeneKDM2Bchr12:122012452chr12:122078947ENST00000542973-1141222_1247-130912RepeatNote=LRR 4
HgeneKDM2Bchr12:122012452chr12:122078947ENST00000542973-1141248_1277-130912RepeatNote=LRR 5
HgeneKDM2Bchr12:122012452chr12:122078947ENST00000542973-1141278_1302-130912RepeatNote=LRR 6
HgeneKDM2Bchr12:122012452chr12:122078947ENST00000542973-1141303_1336-130912RepeatNote=LRR 7
HgeneKDM2Bchr12:122012452chr12:122078947ENST00000377069-423606_6521011266Zinc fingerCXXC-type
HgeneKDM2Bchr12:122012452chr12:122078947ENST00000377069-423659_7251011266Zinc fingerPHD-type
HgeneKDM2Bchr12:122012452chr12:122078947ENST00000377071-423606_6521321337Zinc fingerCXXC-type
HgeneKDM2Bchr12:122012452chr12:122078947ENST00000377071-423659_7251321337Zinc fingerPHD-type
HgeneKDM2Bchr12:122012452chr12:122078947ENST00000542973-114606_652-130912Zinc fingerCXXC-type
HgeneKDM2Bchr12:122012452chr12:122078947ENST00000542973-114659_725-130912Zinc fingerPHD-type
TgeneORAI1chr12:122012452chr12:122078947ENST00000330079+023_47103304Compositional biasNote=Pro-rich
TgeneORAI1chr12:122012452chr12:122078947ENST00000330079+021_87103304Topological domainCytoplasmic
TgeneORAI1chr12:122012452chr12:122078947ENST00000330079+0288_105103304TransmembraneHelical


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FusionGeneSequence for KDM2B_ORAI1


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 KDM2B_ORAI1


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
KDM2BBCOR, PCGF1, SKP1, EZH2, CEBPE, LZTR1, JUN, CUL1, SIN3A, PCGF3, RNF2, RYBP, YAF2, HIST1H3A, KIAA0368, KDM2B, UBE2D1, ACBD3, RBX1, FOS, NANOG, POU5F1, TRIM25ORAI1UBQLN1, LPAR6, FAF2


check button - Retained PPIs in in-frame fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenStill interaction with
TgeneORAI1chr12:122012452chr12:122078947ENST00000330079+02272_292103304STIM1


check button - Lost PPIs in in-frame fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenInteraction lost with
TgeneORAI1chr12:122012452chr12:122078947ENST00000330079+0270_90103304STIM1


check button - Retained PPIs, but lost function due to frame-shift fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenInteraction lost with


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RelatedDrugs for KDM2B_ORAI1


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 KDM2B_ORAI1


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneKDM2BC0036341Schizophrenia1CTD_human
TgeneORAI1C0020538Hypertensive disease1CTD_human
TgeneORAI1C2748568Immune dysfunction with T-cell inactivation due to calcium entry defect 11CTD_human;ORPHANET;UNIPROT
TgeneORAI1C4014557MYOPATHY, TUBULAR AGGREGATE, 21UNIPROT