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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: 14292

FusionGeneSummary for GALNT11_ORAI1

check button Fusion gene summary
Fusion gene informationFusion gene name: GALNT11_ORAI1
Fusion gene ID: 14292
HgeneTgene
Gene symbol

GALNT11

ORAI1

Gene ID

63917

84876

Gene namepolypeptide N-acetylgalactosaminyltransferase 11ORAI calcium release-activated calcium modulator 1
SynonymsGALNAC-T11|GALNACT11CRACM1|IMD9|ORAT1|TAM2|TMEM142A
Cytomap

7q36.1|7q36.1

12q24.31

Type of geneprotein-codingprotein-coding
Descriptionpolypeptide N-acetylgalactosaminyltransferase 11UDP-GalNAc:polypeptide N-acetylgalactosaminyltransferase 11UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 11 (GalNAc-T11)polypeptide GalNAc transferase 11pp-GaNTase 11pcalcium release-activated calcium channel protein 1calcium release-activated calcium modulator 1protein orai-1transmembrane protein 142A
Modification date2018052320180527
UniProtAcc

Q8NCW6

Q96D31

Ensembl transtripts involved in fusion geneENST00000482812, ENST00000430044, 
ENST00000452146, ENST00000434507, 
ENST00000415421, ENST00000320311, 
ENST00000422997, 
ENST00000330079, 
Fusion gene scores* DoF score11 X 5 X 8=4404 X 1 X 6=24
# samples 126
** MAII scorelog2(12/440*10)=-1.87446911791614
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: GALNT11 [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
HgeneGALNT11

GO:0018243

protein O-linked glycosylation via threonine

24226769

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
TCGALDOVTCGA-31-1951-01AGALNT11chr7

151722969

+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
3UTR-3CDSENST00000482812ENST00000330079GALNT11chr7

151722969

+ORAI1chr12

122078947

+
5UTR-3CDSENST00000430044ENST00000330079GALNT11chr7

151722969

+ORAI1chr12

122078947

+
In-frameENST00000452146ENST00000330079GALNT11chr7

151722969

+ORAI1chr12

122078947

+
intron-3CDSENST00000434507ENST00000330079GALNT11chr7

151722969

+ORAI1chr12

122078947

+
intron-3CDSENST00000415421ENST00000330079GALNT11chr7

151722969

+ORAI1chr12

122078947

+
intron-3CDSENST00000320311ENST00000330079GALNT11chr7

151722969

+ORAI1chr12

122078947

+
intron-3CDSENST00000422997ENST00000330079GALNT11chr7

151722969

+ORAI1chr12

122078947

+

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FusionProtFeatures for GALNT11_ORAI1


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
GALNT11

Q8NCW6

ORAI1

Q96D31

Polypeptide N-acetylgalactosaminyltransferase thatcatalyzes the initiation of protein O-linked glycosylation and isinvolved in left/right asymmetry by mediating O-glycosylation ofNOTCH1. O-glycosylation of NOTCH1 promotes activation of NOTCH1,modulating the balance between motile and immotile (sensory) ciliaat the left-right organiser (LRO). Polypeptide N-acetylgalactosaminyltransferases catalyze the transfer of an N-acetyl-D-galactosamine residue to a serine or threonine residue onthe protein receptor. Displays the same enzyme activity towardMUC1, MUC4, and EA2 than GALNT1. Not involved in glycosylation oferythropoietin (EPO). {ECO:0000269|PubMed:11925450,ECO:0000269|PubMed:24226769}. 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

- 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 GALNT11_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.
>In-frame_GALNT11_ENST00000452146_chr7_151722969_+_ORAI1_ENST00000330079_chr12_122078947_+_218aa
MPQPESQKAAILGCGQGGGNGGGAAGRXPRLPTGAAHRLQCLHHSAGGCAPVCAHDQHLHPAQHRGGEQRAQSQLGQGVPPXAHAPPHRA
GLGLLHRHRHAALPSXGGAALLGQVLAPQEAARPAKAHQQAPRQWRSSQRQHQRHHPGPGSCHRLDHHHGALRPDLYRLRRPLLPLTGXP


* Fusion transcript sequences (only coding sequence (CDS) region).
>In-frame_GALNT11_ENST00000452146_chr7_151722969_+_ORAI1_ENST00000330079_chr12_122078947_+_655nt
ATGCCGCAGCCCGAGTCCCAGAAGGCGGCGATCCTGGGCTGCGGGCAAGGCGGTGGCAATGGTGGAGGTGCAGCTGGACGCTGACCACGA
CTACCCACCGGGGCTGCTCATCGCCTTCAGTGCCTGCACCACAGTGCTGGTGGCTGTGCACCTGTTTGCGCTCATGATCAGCACCTGCAT
CCTGCCCAACATCGAGGCGGTGAGCAACGTGCACAATCTCAACTCGGTCAAGGAGTCCCCCCATGAGCGCATGCACCGCCACATCGAGCT
GGCCTGGGCCTTCTCCACCGTCATCGGCACGCTGCTCTTCCTAGCTGAGGTGGTGCTGCTCTGCTGGGTCAAGTTCTTGCCCCTCAAGAA
GCAGCCAGGCCAGCCAAGGCCCACCAGCAAGCCCCCCGCCAGTGGCGCAGCAGCCAACGTCAGCACCAGCGGCATCACCCCGGGCCAGGC
AGCTGCCATCGCCTCGACCACCATCATGGTGCCCTTCGGCCTGATCTTTATCGTCTTCGCCGTCCACTTCTACCGCTCACTGGTTAGCCA
TAAGACTGACCGACAGTTCCAGGAGCTCAACGAGCTGGCGGAGTTTGCCCGCTTACAGGACCAGCTGGACCACAGAGGGGACCACCCCCT


* Fusion transcript sequences (Full-length transcript).
>In-frame_GALNT11_ENST00000452146_chr7_151722969_+_ORAI1_ENST00000330079_chr12_122078947_+_1771nt
GCGACGCCTGGCTGCTGGGCCCCGGGGCAGTTCAGCCCGCGCCGCTCCTGCGGGTCGGACTGGGGCTGTGGCGGGAGAGAAGATGCCGCA
GCCCGAGTCCCAGAAGGCGGCGATCCTGGGCTGCGGGCAAGGCGGTGGCAATGGTGGAGGTGCAGCTGGACGCTGACCACGACTACCCAC
CGGGGCTGCTCATCGCCTTCAGTGCCTGCACCACAGTGCTGGTGGCTGTGCACCTGTTTGCGCTCATGATCAGCACCTGCATCCTGCCCA
ACATCGAGGCGGTGAGCAACGTGCACAATCTCAACTCGGTCAAGGAGTCCCCCCATGAGCGCATGCACCGCCACATCGAGCTGGCCTGGG
CCTTCTCCACCGTCATCGGCACGCTGCTCTTCCTAGCTGAGGTGGTGCTGCTCTGCTGGGTCAAGTTCTTGCCCCTCAAGAAGCAGCCAG
GCCAGCCAAGGCCCACCAGCAAGCCCCCCGCCAGTGGCGCAGCAGCCAACGTCAGCACCAGCGGCATCACCCCGGGCCAGGCAGCTGCCA
TCGCCTCGACCACCATCATGGTGCCCTTCGGCCTGATCTTTATCGTCTTCGCCGTCCACTTCTACCGCTCACTGGTTAGCCATAAGACTG
ACCGACAGTTCCAGGAGCTCAACGAGCTGGCGGAGTTTGCCCGCTTACAGGACCAGCTGGACCACAGAGGGGACCACCCCCTGACGCCCG
GCAGCCACTATGCCTAGGCCCATGTGGTCTGGGCCCTTCCAGTGCTTTGGCCTTACGCCCTTCCCCTTGACCTTGTCCTGCCCCAGCCTC
ACGGACAGCCTGCGCAGGGGGCTGGGCTTCAGCAAGGGGCAGAGCATGGAGGGAAGAGGATTTTTATAAGAGAAATTTCTGCACTTTGAA
ACTGTCCTCTAAGAGAATAAGCATTTCCTGTTCTTCCAGCTCCAGGTCCACCTCCTGTTGGGAGGCGGTGGGGGGCCAAAGTGGGGCCAC
ACACTCGCTGTGTCCCCTCTCCTCCCCTGTGCCAGTGCCACCTGGGTGCCTCCTCCTGTCCTGTCCGTCTCAACCTCCCTCCCGTCCAGC
ATTGAGTGTGTACATGTGTGTGTGACACATAAATATACTCATAAGGACACCTCCTTCCCGTGTCTTGTATTTGTTGGGCCTGGGCTACTG
CTCACCCTGGTTAGGTGAGCCTCTAGGAAAACTTAAAACAAATTTTAAGCCAGGTATGGTGGCACATACCTGTGGTCTCAGCTATTCAGG
AGGCCAAGGCAGGAGGATCTCTTGAGCCCAGGAGTTTGAGACCCCATCTCAAACAAAAAATACAAAAATTAGCCAGCCACGGCGCCTGCA
CTTCCAGCTCCTTTGAGAGACTGAGGCAGGAAGATTGCCTAAGCCCAGGAGGCCAAGTCTGCAGTGAGCTATGGTAACACCACTGCACTC
CAACCTGGGCAACAGAGGGAGACTCTGTCTCTAAAAAAATAGAAAAATTTGCCCTGCATGGTGGCTCACGCCTGTAATCCTAGCCCTTTG
GAAGGCCAAGGCGGGCAGATCACTTGAGGTCGGGAGTTCGAGACCAGCCTGACCAACATGGAGAAACCCCATCTGTACTAAAAATACAAA
ATTAGCTGGGTTTGGTGGCGCATGCTTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGCGGAGGTTG


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FusionGenePPI for GALNT11_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
GALNT11KLK11, HLA-DPA1, SPACA1, NRG1, SDF4, DHRS9, SUCLG2, VSIG4, FNDC4, TOR1AIP2, P2RX2, TMPRSS11B, PDCD1, ARMC6ORAI1UBQLN1, LPAR6, FAF2


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 GALNT11_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 GALNT11_ORAI1


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