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Center for Computational Systems Medicine
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Fusion Gene Summary

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Fusion Gene ORF analysis

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Fusion Genomic Features

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Fusion Protein Features

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Fusion Gene Sequence

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Fusion Gene PPI analysis

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Related Drugs

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Related Diseases

Fusion gene:STIM1-PNPLA2 (FusionGDB2 ID:86799)

Fusion Gene Summary for STIM1-PNPLA2

check button Fusion gene summary
Fusion gene informationFusion gene name: STIM1-PNPLA2
Fusion gene ID: 86799
HgeneTgene
Gene symbol

STIM1

PNPLA2

Gene ID

6786

57104

Gene namestromal interaction molecule 1patatin like phospholipase domain containing 2
SynonymsD11S4896E|GOK|IMD10|STRMK|TAM|TAM11110001C14Rik|ATGL|FP17548|PEDF-R|TTS-2.2|TTS2|iPLA2zeta
Cytomap

11p15.4

11p15.5

Type of geneprotein-codingprotein-coding
Descriptionstromal interaction molecule 1patatin-like phospholipase domain-containing protein 2IPLA2-zetaTTS2.2adipose triglyceride lipasecalcium-independent phospholipase A2desnutrinmutant patatin-like phospholipase domain containing 2pigment epithelium-derived factortransport-secretion
Modification date2020032920200313
UniProtAcc..
Ensembl transtripts involved in fusion geneENST00000300737, ENST00000527651, 
ENST00000527484, ENST00000533977, 
ENST00000336615, 
Fusion gene scores* DoF score21 X 13 X 12=32766 X 7 X 3=126
# samples 237
** MAII scorelog2(23/3276*10)=-3.83222959069663
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(7/126*10)=-0.84799690655495
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: STIM1 [Title/Abstract] AND PNPLA2 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointSTIM1(3877639)-PNPLA2(821628), # samples:3
Anticipated loss of major functional domain due to fusion event.
* 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
HgeneSTIM1

GO:0002115

store-operated calcium entry

28219928

HgeneSTIM1

GO:0005513

detection of calcium ion

16005298

HgeneSTIM1

GO:0032237

activation of store-operated calcium channel activity

16005298|26322679|28219928

HgeneSTIM1

GO:0045762

positive regulation of adenylate cyclase activity

19171672

HgeneSTIM1

GO:0051924

regulation of calcium ion transport

16005298

TgenePNPLA2

GO:0010891

negative regulation of sequestering of triglyceride

16679289

TgenePNPLA2

GO:0010898

positive regulation of triglyceride catabolic process

16679289


check buttonFusion gene breakpoints across STIM1 (5'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.

check buttonFusion gene breakpoints across PNPLA2 (3'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.

check button Fusion gene information from two resources (ChiTars 5.0 and ChimerDB 4.0)
* 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.
SourceDiseaseSampleHgeneHchrHbpHstrandTgeneTchrTbpTstrand
ChimerDB4SKCMTCGA-GN-A8LK-06ASTIM1chr11

3877639

+PNPLA2chr11

821628

+
ChimerDB4SKCMTCGA-GN-A8LKSTIM1chr11

3877639

+PNPLA2chr11

821627

+
ChimerDB4SKCMTCGA-GN-A8LK-06ASTIM1chr11

3877639

+PNPLA2chr11

821628

+
ChimerDB4SKCMTCGA-GN-A8LK-06ASTIM1chr11

3877639

-PNPLA2chr11

821628

+


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Fusion Gene ORF analysis for STIM1-PNPLA2

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-frameENST00000300737ENST00000336615STIM1chr11

3877639

+PNPLA2chr11

821628

+
In-frameENST00000527651ENST00000336615STIM1chr11

3877639

+PNPLA2chr11

821628

+
intron-3CDSENST00000527484ENST00000336615STIM1chr11

3877639

+PNPLA2chr11

821628

+
intron-3CDSENST00000533977ENST00000336615STIM1chr11

3877639

+PNPLA2chr11

821628

+
In-frameENST00000300737ENST00000336615STIM1chr11

3877639

+PNPLA2chr11

821627

+
In-frameENST00000527651ENST00000336615STIM1chr11

3877639

+PNPLA2chr11

821627

+
intron-3CDSENST00000527484ENST00000336615STIM1chr11

3877639

+PNPLA2chr11

821627

+
intron-3CDSENST00000533977ENST00000336615STIM1chr11

3877639

+PNPLA2chr11

821627

+

check buttonORFfinder result based on the fusion transcript sequence of in-frame fusion genes.
HenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrandSeq length
(transcript)		BP loci
(transcript)		Predicted start
(transcript)		Predicted stop
(transcript)		Seq length
(amino acids)
ENST00000300737STIM1chr113877639+ENST00000336615PNPLA2chr11821628+27477085542035493
ENST00000527651STIM1chr113877639+ENST00000336615PNPLA2chr11821628+2267228741555493
ENST00000300737STIM1chr113877639+ENST00000336615PNPLA2chr11821627+27477085542035493
ENST00000527651STIM1chr113877639+ENST00000336615PNPLA2chr11821627+2267228741555493

check buttonDeepORF prediction of the coding potential based on the fusion transcript sequence of in-frame fusion genes. DeepORF is a coding potential classifier based on convolutional neural network by comparing the real Ribo-seq data. If the no-coding score < 0.5 and coding score > 0.5, then the in-frame fusion transcript is predicted as being likely translated.
HenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrandNo-coding scoreCoding score
ENST00000300737ENST00000336615STIM1chr113877639+PNPLA2chr11821628+0.069111510.93088853
ENST00000527651ENST00000336615STIM1chr113877639+PNPLA2chr11821628+0.063453770.9365462
ENST00000300737ENST00000336615STIM1chr113877639+PNPLA2chr11821627+0.069111510.93088853
ENST00000527651ENST00000336615STIM1chr113877639+PNPLA2chr11821627+0.063453770.9365462

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Fusion Genomic Features for STIM1-PNPLA2


check buttonFusionAI prediction of the potential fusion gene breakpoint based on the pre-mature RNA sequence context (+/- 5kb of individual partner genes, total 20kb length sequence). FusionAI is a fusion gene breakpoint classifier based on convolutional neural network by comparing the fusion positive and negative sequence context of ~ 20K fusion gene data. From here, we can have the relative potentency of the 20K genomic sequence how individual sequnce will be likely used as the gene fusion breakpoints.
HgeneHchrHbpHstrandTgeneTchrTbpTstrand1-pp (fusion gene breakpoint)
STIM1chr113877639+PNPLA2chr11821627+5.93E-101
STIM1chr113877639+PNPLA2chr11821627+5.93E-101
STIM1chr113877639+PNPLA2chr11821627+5.93E-101
STIM1chr113877639+PNPLA2chr11821627+5.93E-101

check buttonDistribution of 44 human genomic features loci across 20kb length fusion breakpoint regions. We integrated a total of 44 different types of human genomic feature loci information across five big categories including virus integration sites, repeats, structural variants, chromatin states, and gene expression regulation. More details are in help page.

check buttonDistribution of 44 human genomic features loci across 20kb length fusion breakpoint regions that are ovelapped with the top 1% feature importance score regions. More details are in help page.

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Fusion Protein Features for STIM1-PNPLA2


check button Go to

FGviewer for the breakpoints of chr11:3877639-chr11:821628

.
- FGviewer provides the online visualization of the retention search of the protein functional features across DNA, RNA, protein, and pathological levels.
FGviewer

check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
..
FUNCTION: Might normally function as a transcriptional repressor. EWS-fusion-proteins (EFPS) may play a role in the tumorigenic process. They may disturb gene expression by mimicking, or interfering with the normal function of CTD-POLII within the transcription initiation complex. They may also contribute to an aberrant activation of the fusion protein target genes.FUNCTION: Might normally function as a transcriptional repressor. EWS-fusion-proteins (EFPS) may play a role in the tumorigenic process. They may disturb gene expression by mimicking, or interfering with the normal function of CTD-POLII within the transcription initiation complex. They may also contribute to an aberrant activation of the fusion protein target genes.

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
TgenePNPLA2chr11:3877639chr11:821627ENST00000336615110166_16862.333333333333336505.0MotifDGA/G
TgenePNPLA2chr11:3877639chr11:821628ENST00000336615110166_16862.333333333333336505.0MotifDGA/G

- In-frame and not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgeneSTIM1chr11:3877639chr11:821627ENST00000300737+11276_8746.333333333333336686.0Calcium binding.
HgeneSTIM1chr11:3877639chr11:821628ENST00000300737+11276_8746.333333333333336686.0Calcium binding.
HgeneSTIM1chr11:3877639chr11:821627ENST00000300737+112248_44246.333333333333336686.0Coiled coilOntology_term=ECO:0000269,ECO:0000269,ECO:0000269
HgeneSTIM1chr11:3877639chr11:821628ENST00000300737+112248_44246.333333333333336686.0Coiled coilOntology_term=ECO:0000269,ECO:0000269,ECO:0000269
HgeneSTIM1chr11:3877639chr11:821627ENST00000300737+112270_33646.333333333333336686.0Compositional biasNote=Glu-rich
HgeneSTIM1chr11:3877639chr11:821627ENST00000300737+112600_62946.333333333333336686.0Compositional biasNote=Pro/Ser-rich
HgeneSTIM1chr11:3877639chr11:821627ENST00000300737+112672_68546.333333333333336686.0Compositional biasNote=Lys-rich
HgeneSTIM1chr11:3877639chr11:821628ENST00000300737+112270_33646.333333333333336686.0Compositional biasNote=Glu-rich
HgeneSTIM1chr11:3877639chr11:821628ENST00000300737+112600_62946.333333333333336686.0Compositional biasNote=Pro/Ser-rich
HgeneSTIM1chr11:3877639chr11:821628ENST00000300737+112672_68546.333333333333336686.0Compositional biasNote=Lys-rich
HgeneSTIM1chr11:3877639chr11:821627ENST00000300737+112132_20046.333333333333336686.0DomainSAM
HgeneSTIM1chr11:3877639chr11:821627ENST00000300737+11263_9846.333333333333336686.0DomainNote=EF-hand
HgeneSTIM1chr11:3877639chr11:821628ENST00000300737+112132_20046.333333333333336686.0DomainSAM
HgeneSTIM1chr11:3877639chr11:821628ENST00000300737+11263_9846.333333333333336686.0DomainNote=EF-hand
HgeneSTIM1chr11:3877639chr11:821627ENST00000300737+112642_64546.333333333333336686.0MotifNote=Microtubule tip localization signal
HgeneSTIM1chr11:3877639chr11:821628ENST00000300737+112642_64546.333333333333336686.0MotifNote=Microtubule tip localization signal
HgeneSTIM1chr11:3877639chr11:821627ENST00000300737+112334_44446.333333333333336686.0RegionNote=SOAR/CAD
HgeneSTIM1chr11:3877639chr11:821628ENST00000300737+112334_44446.333333333333336686.0RegionNote=SOAR/CAD
HgeneSTIM1chr11:3877639chr11:821627ENST00000300737+112235_68546.333333333333336686.0Topological domainCytoplasmic
HgeneSTIM1chr11:3877639chr11:821627ENST00000300737+11223_21346.333333333333336686.0Topological domainExtracellular
HgeneSTIM1chr11:3877639chr11:821628ENST00000300737+112235_68546.333333333333336686.0Topological domainCytoplasmic
HgeneSTIM1chr11:3877639chr11:821628ENST00000300737+11223_21346.333333333333336686.0Topological domainExtracellular
HgeneSTIM1chr11:3877639chr11:821627ENST00000300737+112214_23446.333333333333336686.0TransmembraneHelical
HgeneSTIM1chr11:3877639chr11:821628ENST00000300737+112214_23446.333333333333336686.0TransmembraneHelical
TgenePNPLA2chr11:3877639chr11:821627ENST0000033661511010_17962.333333333333336505.0DomainPNPLA
TgenePNPLA2chr11:3877639chr11:821628ENST0000033661511010_17962.333333333333336505.0DomainPNPLA
TgenePNPLA2chr11:3877639chr11:821627ENST0000033661511014_1962.333333333333336505.0MotifGXGXXG
TgenePNPLA2chr11:3877639chr11:821627ENST0000033661511045_4962.333333333333336505.0MotifGXSXG
TgenePNPLA2chr11:3877639chr11:821628ENST0000033661511014_1962.333333333333336505.0MotifGXGXXG
TgenePNPLA2chr11:3877639chr11:821628ENST0000033661511045_4962.333333333333336505.0MotifGXSXG
TgenePNPLA2chr11:3877639chr11:821627ENST000003366151101_862.333333333333336505.0Topological domainCytoplasmic
TgenePNPLA2chr11:3877639chr11:821627ENST0000033661511030_50462.333333333333336505.0Topological domainLumenal
TgenePNPLA2chr11:3877639chr11:821628ENST000003366151101_862.333333333333336505.0Topological domainCytoplasmic
TgenePNPLA2chr11:3877639chr11:821628ENST0000033661511030_50462.333333333333336505.0Topological domainLumenal
TgenePNPLA2chr11:3877639chr11:821627ENST000003366151109_2962.333333333333336505.0TransmembraneHelical%3B Signal-anchor for type II membrane protein
TgenePNPLA2chr11:3877639chr11:821628ENST000003366151109_2962.333333333333336505.0TransmembraneHelical%3B Signal-anchor for type II membrane protein


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Fusion Gene Sequence for STIM1-PNPLA2


check button For in-frame fusion transcripts, we provide the fusion transcript sequences and fusion amino acid sequences. To have fusion amino acid sequence, we ran ORFfinder and chose the longest ORF among the all predicted ones.
>In-frame_ENST00000300737_ENST00000336615_TCGA-GN-A8LK-06A_STIM1_chr11_3877639_+_PNPLA2_chr11_821628_length(transcript)=2747nt_BP=708nt
GCTGGACCTGGGCACCGCCAGCCGCCTGGGCACGGGACTGGGCGGGGGCGCTGACCTCGGCCTAGGAGGCCCAGGATCCCGGAGACGCCC
GCGCCCTCAGGACCCTGCGGGTCGCACGCCCTCCCCAGCTTCTGCTGCTCGCCGCTCTTCGGCAGGGCGAGGTCAGGTGCCCCCTTCTCG
CCTCTCTTCTCTTCTCTTCTCTTCCTCCTCCACTTCTGTGCCCGCGGAGACTCCGGCCGCCCCCTTCCGCAGGGGTGTAGTAATCTGCGG
AGCTGACAGCAGCCCCGCAGCCACCCTGCCCGAAGTCTCCGGAAGCGGCACGAGCTCAGGCCGCCGCAGCCCCGGCGGACCCACTGTTGG
ACCTGAGGAGCCAGCCCTCCTCCCGCACCCAAACTTGGAGCACTTGACCTTTGGCTGTTGGAGGGGGCAGGCTCGCGGGTGGCTGGACAG
CTGCGGAGCCGCGAGGGCATCTTGCCTGGAGACCGTCGGCTGCACTCCCGGGCTCCTGGCTTTGCCTCTGGGATCCCGAGGTGTCCACAT
CAGACGCATGTTGACTGAGACCTAGAGTCATGGATGTATGCGTCCGTCTTGCCCTGTGGCTCCTCTGGGGACTCCTCCTGCACCAGGGCC
AGAGCCTCAGCCATAGTCACAGTGAGAAGGCGACAGGAACCAGCTCGGGGGCCAACTCTGAGGAGTCCACTGCAGCAGGTGAGGCTGGTG
CCAAGTTCATTGAGGTATCTAAAGAGGCCCGGAAGCGGTTCCTGGGCCCCCTGCACCCCTCCTTCAACCTGGTAAAGATCATCCGCAGTT
TCCTGCTGAAGGTCCTGCCTGCTGATAGCCATGAGCATGCCAGTGGGCGCCTGGGCATCTCCCTGACCCGCGTGTCAGACGGCGAGAATG
TCATTATATCCCACTTCAACTCCAAGGACGAGCTCATCCAGGCCAATGTCTGCAGCGGTTTCATCCCCGTGTACTGTGGGCTCATCCCTC
CCTCCCTCCAGGGGGTGCGCTACGTGGATGGTGGCATTTCAGACAACCTGCCACTCTATGAGCTTAAGAACACCATCACAGTGTCCCCCT
TCTCGGGCGAGAGTGACATCTGTCCGCAGGACAGCTCCACCAACATCCACGAGCTGCGGGTCACCAACACCAGCATCCAGTTCAACCTGC
GCAACCTCTACCGCCTCTCCAAGGCCCTCTTCCCGCCGGAGCCCCTGGTGCTGCGAGAGATGTGCAAGCAGGGATACCGGGATGGCCTGC
GCTTTCTGCAGCGGAACGGCCTCCTGAACCGGCCCAACCCCTTGCTGGCGTTGCCCCCCGCCCGCCCCCACGGCCCAGAGGACAAGGACC
AGGCAGTGGAGAGCGCCCAAGCGGAGGATTACTCGCAGCTGCCCGGAGAAGATCACATCCTGGAGCACCTGCCCGCCCGGCTCAATGAGG
CCCTGCTGGAGGCCTGCGTGGAGCCCACGGACCTGCTGACCACCCTCTCCAACATGCTGCCTGTGCGTCTGGCCACGGCCATGATGGTGC
CCTACACGCTGCCGCTGGAGAGCGCTCTGTCCTTCACCATCCGCTTGCTGGAGTGGCTGCCCGACGTTCCCGAGGACATCCGGTGGATGA
AGGAGCAGACGGGCAGCATCTGCCAGTACCTGGTGATGCGCGCCAAGAGGAAGCTGGGCAGGCACCTGCCCTCCAGGCTGCCGGAGCAGG
TGGAGCTGCGCCGCGTCCAGTCGCTGCCGTCCGTGCCGCTGTCCTGCGCCGCCTACAGAGAGGCACTGCCCGGCTGGATGCGCAACAACC
TCTCGCTGGGGGACGCGCTGGCCAAGTGGGAGGAGTGCCAGCGCCAGCTGCTGCTCGGCCTCTTCTGCACCAACGTGGCCTTCCCGCCCG
AAGCTCTGCGCATGCGCGCACCCGCCGACCCGGCTCCCGCCCCCGCGGACCCAGCATCCCCGCAGCACCAGCTGGCCGGGCCTGCCCCCT
TGCTGAGCACCCCTGCTCCCGAGGCCCGGCCCGTGATCGGGGCCCTGGGGCTGTGAGACCCCGACCCTCTCGAGGAACCCTGCCTGAGAC
GCCTCCATTACCACTGCGCAGTGAGATGAGGGGACTCACAGTTGCCAAGAGGGGTCTTTGCCGTGGGCCCCCTCGCCAGCCACTCACCAG
CTGCATGCACTGAGAGGGGAGGTTTCCACACCCCTCCCCTGGGCCGCTGAGGCCCCGCGCACCTGTGCCTTAATCTTCCCTCCCCTGTGC
TGCCCGAGCACCTCCCCCGCCCCTTTACTCCTGAGAACTTTGCAGCTGCCCTTCCCTCCCCGTTTTTCATGGCCTGCTGAAATATGTGTG
TGAAGAATTATTTATTTTCGCCAAAGCACATGTAATAAATGCTGCAGCCCAGCCTCTGCCCACTTTGTGTGTATGTGACCGCCTGCTTAC
TTGCAGTGAGAGCCTGGTGGCCAGGGTCTGGCCCTACCTTGGCTGACCAGCCTCTCCACAGCTGCAGGCCAGGTCTCCCAGCGTCGCACT
CCTGGGCCTGGCATTTGGAACCTGCCAGGCTGGCCTGGGAACACCCCCCTACAGGCACATATGAACGTACTGCATTCCTGCCGACCCCCC
TGTCTAGGATGCATCCACACCCCCCCCAATTTTGCCCAGCAGCCTCCTGGCTGACCCTTGGCCACAGCCTTCTGAGGGCCAATGGAAATA

>In-frame_ENST00000300737_ENST00000336615_TCGA-GN-A8LK-06A_STIM1_chr11_3877639_+_PNPLA2_chr11_821628_length(amino acids)=493AA_start in transcript=554_stop in transcript=2035
MRPRVMDVCVRLALWLLWGLLLHQGQSLSHSHSEKATGTSSGANSEESTAAGEAGAKFIEVSKEARKRFLGPLHPSFNLVKIIRSFLLKV
LPADSHEHASGRLGISLTRVSDGENVIISHFNSKDELIQANVCSGFIPVYCGLIPPSLQGVRYVDGGISDNLPLYELKNTITVSPFSGES
DICPQDSSTNIHELRVTNTSIQFNLRNLYRLSKALFPPEPLVLREMCKQGYRDGLRFLQRNGLLNRPNPLLALPPARPHGPEDKDQAVES
AQAEDYSQLPGEDHILEHLPARLNEALLEACVEPTDLLTTLSNMLPVRLATAMMVPYTLPLESALSFTIRLLEWLPDVPEDIRWMKEQTG
SICQYLVMRAKRKLGRHLPSRLPEQVELRRVQSLPSVPLSCAAYREALPGWMRNNLSLGDALAKWEECQRQLLLGLFCTNVAFPPEALRM

--------------------------------------------------------------
>In-frame_ENST00000527651_ENST00000336615_TCGA-GN-A8LK-06A_STIM1_chr11_3877639_+_PNPLA2_chr11_821628_length(transcript)=2267nt_BP=228nt
GACCGTCGGCTGCACTCCCGGGCTCCTGGCTTTGCCTCTGGGATCCCGAGGTGTCCACATCAGACGCATGTTGACTGAGACCTAGAGTCA
TGGATGTATGCGTCCGTCTTGCCCTGTGGCTCCTCTGGGGACTCCTCCTGCACCAGGGCCAGAGCCTCAGCCATAGTCACAGTGAGAAGG
CGACAGGAACCAGCTCGGGGGCCAACTCTGAGGAGTCCACTGCAGCAGGTGAGGCTGGTGCCAAGTTCATTGAGGTATCTAAAGAGGCCC
GGAAGCGGTTCCTGGGCCCCCTGCACCCCTCCTTCAACCTGGTAAAGATCATCCGCAGTTTCCTGCTGAAGGTCCTGCCTGCTGATAGCC
ATGAGCATGCCAGTGGGCGCCTGGGCATCTCCCTGACCCGCGTGTCAGACGGCGAGAATGTCATTATATCCCACTTCAACTCCAAGGACG
AGCTCATCCAGGCCAATGTCTGCAGCGGTTTCATCCCCGTGTACTGTGGGCTCATCCCTCCCTCCCTCCAGGGGGTGCGCTACGTGGATG
GTGGCATTTCAGACAACCTGCCACTCTATGAGCTTAAGAACACCATCACAGTGTCCCCCTTCTCGGGCGAGAGTGACATCTGTCCGCAGG
ACAGCTCCACCAACATCCACGAGCTGCGGGTCACCAACACCAGCATCCAGTTCAACCTGCGCAACCTCTACCGCCTCTCCAAGGCCCTCT
TCCCGCCGGAGCCCCTGGTGCTGCGAGAGATGTGCAAGCAGGGATACCGGGATGGCCTGCGCTTTCTGCAGCGGAACGGCCTCCTGAACC
GGCCCAACCCCTTGCTGGCGTTGCCCCCCGCCCGCCCCCACGGCCCAGAGGACAAGGACCAGGCAGTGGAGAGCGCCCAAGCGGAGGATT
ACTCGCAGCTGCCCGGAGAAGATCACATCCTGGAGCACCTGCCCGCCCGGCTCAATGAGGCCCTGCTGGAGGCCTGCGTGGAGCCCACGG
ACCTGCTGACCACCCTCTCCAACATGCTGCCTGTGCGTCTGGCCACGGCCATGATGGTGCCCTACACGCTGCCGCTGGAGAGCGCTCTGT
CCTTCACCATCCGCTTGCTGGAGTGGCTGCCCGACGTTCCCGAGGACATCCGGTGGATGAAGGAGCAGACGGGCAGCATCTGCCAGTACC
TGGTGATGCGCGCCAAGAGGAAGCTGGGCAGGCACCTGCCCTCCAGGCTGCCGGAGCAGGTGGAGCTGCGCCGCGTCCAGTCGCTGCCGT
CCGTGCCGCTGTCCTGCGCCGCCTACAGAGAGGCACTGCCCGGCTGGATGCGCAACAACCTCTCGCTGGGGGACGCGCTGGCCAAGTGGG
AGGAGTGCCAGCGCCAGCTGCTGCTCGGCCTCTTCTGCACCAACGTGGCCTTCCCGCCCGAAGCTCTGCGCATGCGCGCACCCGCCGACC
CGGCTCCCGCCCCCGCGGACCCAGCATCCCCGCAGCACCAGCTGGCCGGGCCTGCCCCCTTGCTGAGCACCCCTGCTCCCGAGGCCCGGC
CCGTGATCGGGGCCCTGGGGCTGTGAGACCCCGACCCTCTCGAGGAACCCTGCCTGAGACGCCTCCATTACCACTGCGCAGTGAGATGAG
GGGACTCACAGTTGCCAAGAGGGGTCTTTGCCGTGGGCCCCCTCGCCAGCCACTCACCAGCTGCATGCACTGAGAGGGGAGGTTTCCACA
CCCCTCCCCTGGGCCGCTGAGGCCCCGCGCACCTGTGCCTTAATCTTCCCTCCCCTGTGCTGCCCGAGCACCTCCCCCGCCCCTTTACTC
CTGAGAACTTTGCAGCTGCCCTTCCCTCCCCGTTTTTCATGGCCTGCTGAAATATGTGTGTGAAGAATTATTTATTTTCGCCAAAGCACA
TGTAATAAATGCTGCAGCCCAGCCTCTGCCCACTTTGTGTGTATGTGACCGCCTGCTTACTTGCAGTGAGAGCCTGGTGGCCAGGGTCTG
GCCCTACCTTGGCTGACCAGCCTCTCCACAGCTGCAGGCCAGGTCTCCCAGCGTCGCACTCCTGGGCCTGGCATTTGGAACCTGCCAGGC
TGGCCTGGGAACACCCCCCTACAGGCACATATGAACGTACTGCATTCCTGCCGACCCCCCTGTCTAGGATGCATCCACACCCCCCCCAAT
TTTGCCCAGCAGCCTCCTGGCTGACCCTTGGCCACAGCCTTCTGAGGGCCAATGGAAATATTTGGGACCAAGATTCTTGGTAAATAAAAA

>In-frame_ENST00000527651_ENST00000336615_TCGA-GN-A8LK-06A_STIM1_chr11_3877639_+_PNPLA2_chr11_821628_length(amino acids)=493AA_start in transcript=74_stop in transcript=1555
MRPRVMDVCVRLALWLLWGLLLHQGQSLSHSHSEKATGTSSGANSEESTAAGEAGAKFIEVSKEARKRFLGPLHPSFNLVKIIRSFLLKV
LPADSHEHASGRLGISLTRVSDGENVIISHFNSKDELIQANVCSGFIPVYCGLIPPSLQGVRYVDGGISDNLPLYELKNTITVSPFSGES
DICPQDSSTNIHELRVTNTSIQFNLRNLYRLSKALFPPEPLVLREMCKQGYRDGLRFLQRNGLLNRPNPLLALPPARPHGPEDKDQAVES
AQAEDYSQLPGEDHILEHLPARLNEALLEACVEPTDLLTTLSNMLPVRLATAMMVPYTLPLESALSFTIRLLEWLPDVPEDIRWMKEQTG
SICQYLVMRAKRKLGRHLPSRLPEQVELRRVQSLPSVPLSCAAYREALPGWMRNNLSLGDALAKWEECQRQLLLGLFCTNVAFPPEALRM

--------------------------------------------------------------
>In-frame_ENST00000300737_ENST00000336615_TCGA-GN-A8LK_STIM1_chr11_3877639_+_PNPLA2_chr11_821627_length(transcript)=2747nt_BP=708nt
GCTGGACCTGGGCACCGCCAGCCGCCTGGGCACGGGACTGGGCGGGGGCGCTGACCTCGGCCTAGGAGGCCCAGGATCCCGGAGACGCCC
GCGCCCTCAGGACCCTGCGGGTCGCACGCCCTCCCCAGCTTCTGCTGCTCGCCGCTCTTCGGCAGGGCGAGGTCAGGTGCCCCCTTCTCG
CCTCTCTTCTCTTCTCTTCTCTTCCTCCTCCACTTCTGTGCCCGCGGAGACTCCGGCCGCCCCCTTCCGCAGGGGTGTAGTAATCTGCGG
AGCTGACAGCAGCCCCGCAGCCACCCTGCCCGAAGTCTCCGGAAGCGGCACGAGCTCAGGCCGCCGCAGCCCCGGCGGACCCACTGTTGG
ACCTGAGGAGCCAGCCCTCCTCCCGCACCCAAACTTGGAGCACTTGACCTTTGGCTGTTGGAGGGGGCAGGCTCGCGGGTGGCTGGACAG
CTGCGGAGCCGCGAGGGCATCTTGCCTGGAGACCGTCGGCTGCACTCCCGGGCTCCTGGCTTTGCCTCTGGGATCCCGAGGTGTCCACAT
CAGACGCATGTTGACTGAGACCTAGAGTCATGGATGTATGCGTCCGTCTTGCCCTGTGGCTCCTCTGGGGACTCCTCCTGCACCAGGGCC
AGAGCCTCAGCCATAGTCACAGTGAGAAGGCGACAGGAACCAGCTCGGGGGCCAACTCTGAGGAGTCCACTGCAGCAGGTGAGGCTGGTG
CCAAGTTCATTGAGGTATCTAAAGAGGCCCGGAAGCGGTTCCTGGGCCCCCTGCACCCCTCCTTCAACCTGGTAAAGATCATCCGCAGTT
TCCTGCTGAAGGTCCTGCCTGCTGATAGCCATGAGCATGCCAGTGGGCGCCTGGGCATCTCCCTGACCCGCGTGTCAGACGGCGAGAATG
TCATTATATCCCACTTCAACTCCAAGGACGAGCTCATCCAGGCCAATGTCTGCAGCGGTTTCATCCCCGTGTACTGTGGGCTCATCCCTC
CCTCCCTCCAGGGGGTGCGCTACGTGGATGGTGGCATTTCAGACAACCTGCCACTCTATGAGCTTAAGAACACCATCACAGTGTCCCCCT
TCTCGGGCGAGAGTGACATCTGTCCGCAGGACAGCTCCACCAACATCCACGAGCTGCGGGTCACCAACACCAGCATCCAGTTCAACCTGC
GCAACCTCTACCGCCTCTCCAAGGCCCTCTTCCCGCCGGAGCCCCTGGTGCTGCGAGAGATGTGCAAGCAGGGATACCGGGATGGCCTGC
GCTTTCTGCAGCGGAACGGCCTCCTGAACCGGCCCAACCCCTTGCTGGCGTTGCCCCCCGCCCGCCCCCACGGCCCAGAGGACAAGGACC
AGGCAGTGGAGAGCGCCCAAGCGGAGGATTACTCGCAGCTGCCCGGAGAAGATCACATCCTGGAGCACCTGCCCGCCCGGCTCAATGAGG
CCCTGCTGGAGGCCTGCGTGGAGCCCACGGACCTGCTGACCACCCTCTCCAACATGCTGCCTGTGCGTCTGGCCACGGCCATGATGGTGC
CCTACACGCTGCCGCTGGAGAGCGCTCTGTCCTTCACCATCCGCTTGCTGGAGTGGCTGCCCGACGTTCCCGAGGACATCCGGTGGATGA
AGGAGCAGACGGGCAGCATCTGCCAGTACCTGGTGATGCGCGCCAAGAGGAAGCTGGGCAGGCACCTGCCCTCCAGGCTGCCGGAGCAGG
TGGAGCTGCGCCGCGTCCAGTCGCTGCCGTCCGTGCCGCTGTCCTGCGCCGCCTACAGAGAGGCACTGCCCGGCTGGATGCGCAACAACC
TCTCGCTGGGGGACGCGCTGGCCAAGTGGGAGGAGTGCCAGCGCCAGCTGCTGCTCGGCCTCTTCTGCACCAACGTGGCCTTCCCGCCCG
AAGCTCTGCGCATGCGCGCACCCGCCGACCCGGCTCCCGCCCCCGCGGACCCAGCATCCCCGCAGCACCAGCTGGCCGGGCCTGCCCCCT
TGCTGAGCACCCCTGCTCCCGAGGCCCGGCCCGTGATCGGGGCCCTGGGGCTGTGAGACCCCGACCCTCTCGAGGAACCCTGCCTGAGAC
GCCTCCATTACCACTGCGCAGTGAGATGAGGGGACTCACAGTTGCCAAGAGGGGTCTTTGCCGTGGGCCCCCTCGCCAGCCACTCACCAG
CTGCATGCACTGAGAGGGGAGGTTTCCACACCCCTCCCCTGGGCCGCTGAGGCCCCGCGCACCTGTGCCTTAATCTTCCCTCCCCTGTGC
TGCCCGAGCACCTCCCCCGCCCCTTTACTCCTGAGAACTTTGCAGCTGCCCTTCCCTCCCCGTTTTTCATGGCCTGCTGAAATATGTGTG
TGAAGAATTATTTATTTTCGCCAAAGCACATGTAATAAATGCTGCAGCCCAGCCTCTGCCCACTTTGTGTGTATGTGACCGCCTGCTTAC
TTGCAGTGAGAGCCTGGTGGCCAGGGTCTGGCCCTACCTTGGCTGACCAGCCTCTCCACAGCTGCAGGCCAGGTCTCCCAGCGTCGCACT
CCTGGGCCTGGCATTTGGAACCTGCCAGGCTGGCCTGGGAACACCCCCCTACAGGCACATATGAACGTACTGCATTCCTGCCGACCCCCC
TGTCTAGGATGCATCCACACCCCCCCCAATTTTGCCCAGCAGCCTCCTGGCTGACCCTTGGCCACAGCCTTCTGAGGGCCAATGGAAATA

>In-frame_ENST00000300737_ENST00000336615_TCGA-GN-A8LK_STIM1_chr11_3877639_+_PNPLA2_chr11_821627_length(amino acids)=493AA_start in transcript=554_stop in transcript=2035
MRPRVMDVCVRLALWLLWGLLLHQGQSLSHSHSEKATGTSSGANSEESTAAGEAGAKFIEVSKEARKRFLGPLHPSFNLVKIIRSFLLKV
LPADSHEHASGRLGISLTRVSDGENVIISHFNSKDELIQANVCSGFIPVYCGLIPPSLQGVRYVDGGISDNLPLYELKNTITVSPFSGES
DICPQDSSTNIHELRVTNTSIQFNLRNLYRLSKALFPPEPLVLREMCKQGYRDGLRFLQRNGLLNRPNPLLALPPARPHGPEDKDQAVES
AQAEDYSQLPGEDHILEHLPARLNEALLEACVEPTDLLTTLSNMLPVRLATAMMVPYTLPLESALSFTIRLLEWLPDVPEDIRWMKEQTG
SICQYLVMRAKRKLGRHLPSRLPEQVELRRVQSLPSVPLSCAAYREALPGWMRNNLSLGDALAKWEECQRQLLLGLFCTNVAFPPEALRM

--------------------------------------------------------------
>In-frame_ENST00000527651_ENST00000336615_TCGA-GN-A8LK_STIM1_chr11_3877639_+_PNPLA2_chr11_821627_length(transcript)=2267nt_BP=228nt
GACCGTCGGCTGCACTCCCGGGCTCCTGGCTTTGCCTCTGGGATCCCGAGGTGTCCACATCAGACGCATGTTGACTGAGACCTAGAGTCA
TGGATGTATGCGTCCGTCTTGCCCTGTGGCTCCTCTGGGGACTCCTCCTGCACCAGGGCCAGAGCCTCAGCCATAGTCACAGTGAGAAGG
CGACAGGAACCAGCTCGGGGGCCAACTCTGAGGAGTCCACTGCAGCAGGTGAGGCTGGTGCCAAGTTCATTGAGGTATCTAAAGAGGCCC
GGAAGCGGTTCCTGGGCCCCCTGCACCCCTCCTTCAACCTGGTAAAGATCATCCGCAGTTTCCTGCTGAAGGTCCTGCCTGCTGATAGCC
ATGAGCATGCCAGTGGGCGCCTGGGCATCTCCCTGACCCGCGTGTCAGACGGCGAGAATGTCATTATATCCCACTTCAACTCCAAGGACG
AGCTCATCCAGGCCAATGTCTGCAGCGGTTTCATCCCCGTGTACTGTGGGCTCATCCCTCCCTCCCTCCAGGGGGTGCGCTACGTGGATG
GTGGCATTTCAGACAACCTGCCACTCTATGAGCTTAAGAACACCATCACAGTGTCCCCCTTCTCGGGCGAGAGTGACATCTGTCCGCAGG
ACAGCTCCACCAACATCCACGAGCTGCGGGTCACCAACACCAGCATCCAGTTCAACCTGCGCAACCTCTACCGCCTCTCCAAGGCCCTCT
TCCCGCCGGAGCCCCTGGTGCTGCGAGAGATGTGCAAGCAGGGATACCGGGATGGCCTGCGCTTTCTGCAGCGGAACGGCCTCCTGAACC
GGCCCAACCCCTTGCTGGCGTTGCCCCCCGCCCGCCCCCACGGCCCAGAGGACAAGGACCAGGCAGTGGAGAGCGCCCAAGCGGAGGATT
ACTCGCAGCTGCCCGGAGAAGATCACATCCTGGAGCACCTGCCCGCCCGGCTCAATGAGGCCCTGCTGGAGGCCTGCGTGGAGCCCACGG
ACCTGCTGACCACCCTCTCCAACATGCTGCCTGTGCGTCTGGCCACGGCCATGATGGTGCCCTACACGCTGCCGCTGGAGAGCGCTCTGT
CCTTCACCATCCGCTTGCTGGAGTGGCTGCCCGACGTTCCCGAGGACATCCGGTGGATGAAGGAGCAGACGGGCAGCATCTGCCAGTACC
TGGTGATGCGCGCCAAGAGGAAGCTGGGCAGGCACCTGCCCTCCAGGCTGCCGGAGCAGGTGGAGCTGCGCCGCGTCCAGTCGCTGCCGT
CCGTGCCGCTGTCCTGCGCCGCCTACAGAGAGGCACTGCCCGGCTGGATGCGCAACAACCTCTCGCTGGGGGACGCGCTGGCCAAGTGGG
AGGAGTGCCAGCGCCAGCTGCTGCTCGGCCTCTTCTGCACCAACGTGGCCTTCCCGCCCGAAGCTCTGCGCATGCGCGCACCCGCCGACC
CGGCTCCCGCCCCCGCGGACCCAGCATCCCCGCAGCACCAGCTGGCCGGGCCTGCCCCCTTGCTGAGCACCCCTGCTCCCGAGGCCCGGC
CCGTGATCGGGGCCCTGGGGCTGTGAGACCCCGACCCTCTCGAGGAACCCTGCCTGAGACGCCTCCATTACCACTGCGCAGTGAGATGAG
GGGACTCACAGTTGCCAAGAGGGGTCTTTGCCGTGGGCCCCCTCGCCAGCCACTCACCAGCTGCATGCACTGAGAGGGGAGGTTTCCACA
CCCCTCCCCTGGGCCGCTGAGGCCCCGCGCACCTGTGCCTTAATCTTCCCTCCCCTGTGCTGCCCGAGCACCTCCCCCGCCCCTTTACTC
CTGAGAACTTTGCAGCTGCCCTTCCCTCCCCGTTTTTCATGGCCTGCTGAAATATGTGTGTGAAGAATTATTTATTTTCGCCAAAGCACA
TGTAATAAATGCTGCAGCCCAGCCTCTGCCCACTTTGTGTGTATGTGACCGCCTGCTTACTTGCAGTGAGAGCCTGGTGGCCAGGGTCTG
GCCCTACCTTGGCTGACCAGCCTCTCCACAGCTGCAGGCCAGGTCTCCCAGCGTCGCACTCCTGGGCCTGGCATTTGGAACCTGCCAGGC
TGGCCTGGGAACACCCCCCTACAGGCACATATGAACGTACTGCATTCCTGCCGACCCCCCTGTCTAGGATGCATCCACACCCCCCCCAAT
TTTGCCCAGCAGCCTCCTGGCTGACCCTTGGCCACAGCCTTCTGAGGGCCAATGGAAATATTTGGGACCAAGATTCTTGGTAAATAAAAA

>In-frame_ENST00000527651_ENST00000336615_TCGA-GN-A8LK_STIM1_chr11_3877639_+_PNPLA2_chr11_821627_length(amino acids)=493AA_start in transcript=74_stop in transcript=1555
MRPRVMDVCVRLALWLLWGLLLHQGQSLSHSHSEKATGTSSGANSEESTAAGEAGAKFIEVSKEARKRFLGPLHPSFNLVKIIRSFLLKV
LPADSHEHASGRLGISLTRVSDGENVIISHFNSKDELIQANVCSGFIPVYCGLIPPSLQGVRYVDGGISDNLPLYELKNTITVSPFSGES
DICPQDSSTNIHELRVTNTSIQFNLRNLYRLSKALFPPEPLVLREMCKQGYRDGLRFLQRNGLLNRPNPLLALPPARPHGPEDKDQAVES
AQAEDYSQLPGEDHILEHLPARLNEALLEACVEPTDLLTTLSNMLPVRLATAMMVPYTLPLESALSFTIRLLEWLPDVPEDIRWMKEQTG
SICQYLVMRAKRKLGRHLPSRLPEQVELRRVQSLPSVPLSCAAYREALPGWMRNNLSLGDALAKWEECQRQLLLGLFCTNVAFPPEALRM

--------------------------------------------------------------

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Fusion Gene PPI Analysis for STIM1-PNPLA2


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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Related Drugs for STIM1-PNPLA2


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.8 2021-05-08)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status

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Related Diseases for STIM1-PNPLA2


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneSTIM1C1861451Stormorken Syndrome5GENOMICS_ENGLAND;ORPHANET;UNIPROT
HgeneSTIM1C4011726MYOPATHY, TUBULAR AGGREGATE, 14GENOMICS_ENGLAND;UNIPROT
HgeneSTIM1C2748557Immune dysfunction with T-cell inactivation due to calcium entry defect 23CTD_human;GENOMICS_ENGLAND;ORPHANET;UNIPROT
HgeneSTIM1C0020538Hypertensive disease1CTD_human
HgeneSTIM1C0024121Lung Neoplasms1CTD_human
HgeneSTIM1C0027659Neoplasms, Experimental1CTD_human
HgeneSTIM1C0087031Juvenile-Onset Still Disease1CTD_human
HgeneSTIM1C0242379Malignant neoplasm of lung1CTD_human
HgeneSTIM1C0410207Tubular Aggregate Myopathy1CTD_human;ORPHANET
HgeneSTIM1C0494261Combined immunodeficiency1GENOMICS_ENGLAND
HgeneSTIM1C3495559Juvenile arthritis1CTD_human
HgeneSTIM1C3495676Anorectal Malformations1GENOMICS_ENGLAND
HgeneSTIM1C3714758Juvenile psoriatic arthritis1CTD_human
HgeneSTIM1C4552091Polyarthritis, Juvenile, Rheumatoid Factor Negative1CTD_human
HgeneSTIM1C4704862Polyarthritis, Juvenile, Rheumatoid Factor Positive1CTD_human
TgenePNPLA2C1853136Neutral Lipid Storage Disease with Myopathy3CTD_human;GENOMICS_ENGLAND;ORPHANET;UNIPROT
TgenePNPLA2C0018799Heart Diseases2CTD_human
TgenePNPLA2C0032460Polycystic Ovary Syndrome1CTD_human
TgenePNPLA2C1136382Sclerocystic Ovaries1CTD_human