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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:GNA11-TLE6 (FusionGDB2 ID:33404)

Fusion Gene Summary for GNA11-TLE6

check button Fusion gene summary
Fusion gene informationFusion gene name: GNA11-TLE6
Fusion gene ID: 33404
HgeneTgene
Gene symbol

GNA11

TLE6

Gene ID

2767

79816

Gene nameG protein subunit alpha 11TLE family member 6, subcortical maternal complex member
SynonymsFBH|FBH2|FHH2|GNA-11|HHC2|HYPOC2GRG6|PREMBL
Cytomap

19p13.3

19p13.3

Type of geneprotein-codingprotein-coding
Descriptionguanine nucleotide-binding protein subunit alpha-11g alpha-11guanine nucleotide binding protein (G protein), alpha 11 (Gq class)guanine nucleotide-binding protein G(y) subunit alphatransducin-like enhancer protein 6transducin like enhancer of split 6transducin-like enhancer of split 6 (E(sp1) homolog, Drosophila)
Modification date2020031320200313
UniProtAcc

P29992

.
Ensembl transtripts involved in fusion geneENST00000078429, ENST00000586180, 
ENST00000246112, ENST00000482627, 
ENST00000452088, ENST00000478073, 
Fusion gene scores* DoF score8 X 4 X 5=1605 X 5 X 5=125
# samples 127
** MAII scorelog2(12/160*10)=-0.415037499278844
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(7/125*10)=-0.836501267717121
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: GNA11 [Title/Abstract] AND TLE6 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointGNA11(3113482)-TLE6(2991841), # samples:1
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

check buttonFusion gene breakpoints across GNA11 (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 TLE6 (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
ChimerDB4STADTCGA-BR-8295-01AGNA11chr19

3113482

+TLE6chr19

2991841

+


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Fusion Gene ORF analysis for GNA11-TLE6

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-frameENST00000078429ENST00000246112GNA11chr19

3113482

+TLE6chr19

2991841

+
5CDS-intronENST00000078429ENST00000482627GNA11chr19

3113482

+TLE6chr19

2991841

+
5CDS-intronENST00000078429ENST00000452088GNA11chr19

3113482

+TLE6chr19

2991841

+
5CDS-intronENST00000078429ENST00000478073GNA11chr19

3113482

+TLE6chr19

2991841

+
intron-3CDSENST00000586180ENST00000246112GNA11chr19

3113482

+TLE6chr19

2991841

+
intron-intronENST00000586180ENST00000482627GNA11chr19

3113482

+TLE6chr19

2991841

+
intron-intronENST00000586180ENST00000452088GNA11chr19

3113482

+TLE6chr19

2991841

+
intron-intronENST00000586180ENST00000478073GNA11chr19

3113482

+TLE6chr19

2991841

+

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)
ENST00000078429GNA11chr193113482+ENST00000246112TLE6chr192991841+136871811802393

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
ENST00000078429ENST00000246112GNA11chr193113482+TLE6chr192991841+0.002791620.9972084

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Fusion Genomic Features for GNA11-TLE6


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)
GNA11chr193113482+TLE6chr192991840+3.08E-060.9999969
GNA11chr193113482+TLE6chr192991840+3.08E-060.9999969

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 GNA11-TLE6


check button Go to

FGviewer for the breakpoints of chr19:3113482-chr19:2991841

.
- 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
GNA11

P29992

.
FUNCTION: Guanine nucleotide-binding proteins (G proteins) are involved as modulators or transducers in various transmembrane signaling systems. Acts as an activator of phospholipase C. Transduces FFAR4 signaling in response to long-chain fatty acids (LCFAs). {ECO:0000269|PubMed:27852822}.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
HgeneGNA11chr19:3113482chr19:2991841ENST00000078429+3746_53158.66666666666666360.0Nucleotide bindingGTP
HgeneGNA11chr19:3113482chr19:2991841ENST00000078429+3741_54158.66666666666666360.0RegionG1 motif
TgeneTLE6chr19:3113482chr19:2991841ENST000002461121217419_456414.6666666666667573.0RepeatNote=WD 4
TgeneTLE6chr19:3113482chr19:2991841ENST000002461121217458_497414.6666666666667573.0RepeatNote=WD 5
TgeneTLE6chr19:3113482chr19:2991841ENST000002461121217499_538414.6666666666667573.0RepeatNote=WD 6
TgeneTLE6chr19:3113482chr19:2991841ENST000002461121217540_571414.6666666666667573.0RepeatNote=WD 7
TgeneTLE6chr19:3113482chr19:2991841ENST000004520881116332_372291.6666666666667450.0RepeatNote=WD 2
TgeneTLE6chr19:3113482chr19:2991841ENST000004520881116377_416291.6666666666667450.0RepeatNote=WD 3
TgeneTLE6chr19:3113482chr19:2991841ENST000004520881116419_456291.6666666666667450.0RepeatNote=WD 4
TgeneTLE6chr19:3113482chr19:2991841ENST000004520881116458_497291.6666666666667450.0RepeatNote=WD 5
TgeneTLE6chr19:3113482chr19:2991841ENST000004520881116499_538291.6666666666667450.0RepeatNote=WD 6
TgeneTLE6chr19:3113482chr19:2991841ENST000004520881116540_571291.6666666666667450.0RepeatNote=WD 7

- In-frame and not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgeneGNA11chr19:3113482chr19:2991841ENST00000078429+3738_359158.66666666666666360.0DomainG-alpha
HgeneGNA11chr19:3113482chr19:2991841ENST00000078429+37180_186158.66666666666666360.0Nucleotide bindingGTP
HgeneGNA11chr19:3113482chr19:2991841ENST00000078429+37205_209158.66666666666666360.0Nucleotide bindingGTP
HgeneGNA11chr19:3113482chr19:2991841ENST00000078429+37274_277158.66666666666666360.0Nucleotide bindingGTP
HgeneGNA11chr19:3113482chr19:2991841ENST00000078429+37178_186158.66666666666666360.0RegionG2 motif
HgeneGNA11chr19:3113482chr19:2991841ENST00000078429+37201_210158.66666666666666360.0RegionG3 motif
HgeneGNA11chr19:3113482chr19:2991841ENST00000078429+37270_277158.66666666666666360.0RegionG4 motif
HgeneGNA11chr19:3113482chr19:2991841ENST00000078429+37329_334158.66666666666666360.0RegionG5 motif
TgeneTLE6chr19:3113482chr19:2991841ENST000002461121217284_322414.6666666666667573.0RepeatNote=WD 1
TgeneTLE6chr19:3113482chr19:2991841ENST000002461121217332_372414.6666666666667573.0RepeatNote=WD 2
TgeneTLE6chr19:3113482chr19:2991841ENST000002461121217377_416414.6666666666667573.0RepeatNote=WD 3
TgeneTLE6chr19:3113482chr19:2991841ENST000004520881116284_322291.6666666666667450.0RepeatNote=WD 1


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Fusion Gene Sequence for GNA11-TLE6


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_ENST00000078429_ENST00000246112_TCGA-BR-8295-01A_GNA11_chr19_3113482_+_TLE6_chr19_2991841_length(transcript)=1368nt_BP=718nt
GCTGCGGCGGCGGCGCGGGCTGAGTGCGGCCGCGCGGGAGTCCGCGGCTGGCGCGGCCCGAGCGGGGACCCGGCGGCTCGCCAGGCGGCG
GCCGAGGCGGGGCGGGCCGGCCCGGGGCCGAGGGCCGGTGGCCGAGGCCGGAGGGCCGCGGCGGGCGGCGGCCGAGGCGGCTCCGGCCAG
GGCCGGGCCGGGGGCCGGGGGGCGGCGGCGGGCAGGCGGCCGCGTCGGCCGGGGCCGGGACGATGACTCTGGAGTCCATGATGGCGTGTT
GCCTGAGCGATGAGGTGAAGGAGTCCAAGCGGATCAACGCCGAGATCGAGAAGCAGCTGCGGCGGGACAAGCGCGACGCCCGGCGCGAGC
TCAAGCTGCTGCTGCTCGGCACGGGCGAGAGCGGGAAGAGCACGTTCATCAAGCAGATGCGCATCATCCACGGCGCCGGCTACTCGGAGG
AGGACAAGCGCGGCTTCACCAAGCTCGTCTACCAGAACATCTTCACCGCCATGCAGGCCATGATCCGGGCCATGGAGACGCTCAAGATCC
TCTACAAGTACGAGCAGAACAAGGCCAATGCGCTCCTGATCCGGGAGGTGGACGTGGAGAAGGTGACCACCTTCGAGCATCAGTACGTCA
GTGCCATCAAGACCCTGTGGGAGGACCCGGGCATCCAGGAATGCTACGACCGCAGGCGCGAGTACCAGCTCTCCGACTCTGCCAAGTAGG
ACCTCAAGGGTTATCCTGATGGAGTCAAGAGTATCGTGGTCAAGGGCTACAACATCTGGACTGGGGGTCCGGATGCCTGTCTGCGGTGCT
GGGACCAGAGGACCATCATGAAACCTCTGGAGTACCAATTCAAGTCTCAGATAATGAGCCTGTCCCACAGCCCCCAGGAGGACTGGGTGC
TGCTGGGCATGGCCAATGGCCAGCAGTGGCTGCAAAGCACCAGCGGGAGCCAGCGGCACATGGTGGGGCAAAAAGACAGCGTCATCCTGA
GCGTCAAGTTCTCCCCCTTTGGCCAGTGGTGGGCAAGCGTTGGAATGGACGACTTCCTTGGCGTCTACAGCATGCCGGCGGGGACAAAAG
TGTTCGAGGTGCCTGAGATGTCTCCAGTCACGTGCTGTGACGTCTCTTCCAACAACCGCCTCGTTGTCACAGGCTCCGGGGAGCACGCCT
CCGTGTACCAGATCACCTACTGAGGGGCCTCGCTGCTGTCATCCCACTCCGGCTCCTCTTTTCATCCCCCCCCTTCCCCCCCCCCAACAA
GGGGGACATGGTGGAGGGAAGCGGGAAGGCTCTTCTGTGGCATCGCACGATCTAGTCTGTGGTGTAGACTGGTCGCCATCACGTGTAATA

>In-frame_ENST00000078429_ENST00000246112_TCGA-BR-8295-01A_GNA11_chr19_3113482_+_TLE6_chr19_2991841_length(amino acids)=393AA_start in transcript=1180_stop in transcript=2
MVHGGVLPGACDNEAVVGRDVTARDWRHLRHLEHFCPRRHAVDAKEVVHSNACPPLAKGGELDAQDDAVFLPHHVPLAPAGALQPLLAIG
HAQQHPVLLGAVGQAHYLRLELVLQRFHDGPLVPAPQTGIRTPSPDVVALDHDTLDSIRITLEVLLGRVGELVLAPAVVAFLDARVLPQG
LDGTDVLMLEGGHLLHVHLPDQERIGLVLLVLVEDLERLHGPDHGLHGGEDVLVDELGEAALVLLRVAGAVDDAHLLDERALPALARAEQ
QQLELAPGVALVPPQLLLDLGVDPLGLLHLIAQATRHHGLQSHRPGPGRRGRLPAAAPRPPARPWPEPPRPPPAAALRPRPPALGPGPAR

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

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Fusion Gene PPI Analysis for GNA11-TLE6


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 GNA11-TLE6


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 GNA11-TLE6


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneGNA11C0220633Uveal melanoma5CGI;CTD_human;ORPHANET
HgeneGNA11C1840347HYPOCALCIURIC HYPERCALCEMIA, FAMILIAL, TYPE II (disorder)3CTD_human;GENOMICS_ENGLAND;ORPHANET;UNIPROT
HgeneGNA11C3809243HYPOCALCEMIA, AUTOSOMAL DOMINANT 23GENOMICS_ENGLAND;UNIPROT
HgeneGNA11C0346373Malignant melanoma of iris2ORPHANET
HgeneGNA11C0346388Malignant melanoma of choroid2ORPHANET
HgeneGNA11C0018798Congenital Heart Defects1CTD_human
HgeneGNA11C0025202melanoma1CGI;CTD_human
HgeneGNA11C0235753Congenital hemangioma1GENOMICS_ENGLAND
HgeneGNA11C1274879Port-wine stain with oculocutaneous melanosis1GENOMICS_ENGLAND
HgeneGNA11C3715128HYPOCALCEMIA, AUTOSOMAL DOMINANT 11ORPHANET
HgeneGNA11C3838883Phakomatosis cesioflammea1ORPHANET
HgeneGNA11C3839296Phakomatosis cesiomarmorata1ORPHANET
HgeneGNA11C4048195Autosomal dominant hypocalcemia1ORPHANET
HgeneGNA11C4552089HYPOCALCEMIA, AUTOSOMAL DOMINANT 1, WITH BARTTER SYNDROME1ORPHANET
TgeneTLE6C4225197PREIMPLANTATION EMBRYONIC LETHALITY 11CTD_human;UNIPROT