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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:FMR1-NDUFS6 (FusionGDB2 ID:30688)

Fusion Gene Summary for FMR1-NDUFS6

check button Fusion gene summary
Fusion gene informationFusion gene name: FMR1-NDUFS6
Fusion gene ID: 30688
HgeneTgene
Gene symbol

FMR1

NDUFS6

Gene ID

106478973

4726

Gene nameFMR1 intronic transcript 1NADH:ubiquinone oxidoreductase subunit S6
SynonymsFMR1CI-13kA|CI-13kD-A|CI13KDA|MC1DN9
Cytomap

Xq27.3

5p15.33

Type of genencRNAprotein-coding
DescriptionFMR1 intronic transcript 1 (non-protein coding)fragile X mental retardation syndrome proteinNADH dehydrogenase [ubiquinone] iron-sulfur protein 6, mitochondrialNADH dehydrogenase (ubiquinone) Fe-S protein 6, 13kDa (NADH-coenzyme Q reductase)NADH-ubiquinone oxidoreductase 13 kDa-A subunitNADH:ubiquinone oxidoreductase NDUFS6 subunitcomplex I
Modification date2019032420200313
UniProtAcc.

O75380

Ensembl transtripts involved in fusion geneENST00000218200, ENST00000370471, 
ENST00000370477, ENST00000334557, 
ENST00000439526, ENST00000370475, 
ENST00000370470, ENST00000440235, 
ENST00000492846, 		ENST00000274137, 
ENST00000469176, ENST00000510329, 
Fusion gene scores* DoF score7 X 3 X 6=1264 X 2 X 2=16
# samples 74
** MAII scorelog2(7/126*10)=-0.84799690655495
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(4/16*10)=1.32192809488736
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
Context

PubMed: FMR1 [Title/Abstract] AND NDUFS6 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointFMR1(146993748)-NDUFS6(1814452), # 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 FMR1 (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 NDUFS6 (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-CG-5721FMR1chrX

146993748

+NDUFS6chr5

1814452

+


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Fusion Gene ORF analysis for FMR1-NDUFS6

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-frameENST00000218200ENST00000274137FMR1chrX

146993748

+NDUFS6chr5

1814452

+
Frame-shiftENST00000218200ENST00000469176FMR1chrX

146993748

+NDUFS6chr5

1814452

+
5CDS-intronENST00000218200ENST00000510329FMR1chrX

146993748

+NDUFS6chr5

1814452

+
In-frameENST00000370471ENST00000274137FMR1chrX

146993748

+NDUFS6chr5

1814452

+
Frame-shiftENST00000370471ENST00000469176FMR1chrX

146993748

+NDUFS6chr5

1814452

+
5CDS-intronENST00000370471ENST00000510329FMR1chrX

146993748

+NDUFS6chr5

1814452

+
In-frameENST00000370477ENST00000274137FMR1chrX

146993748

+NDUFS6chr5

1814452

+
Frame-shiftENST00000370477ENST00000469176FMR1chrX

146993748

+NDUFS6chr5

1814452

+
5CDS-intronENST00000370477ENST00000510329FMR1chrX

146993748

+NDUFS6chr5

1814452

+
In-frameENST00000334557ENST00000274137FMR1chrX

146993748

+NDUFS6chr5

1814452

+
Frame-shiftENST00000334557ENST00000469176FMR1chrX

146993748

+NDUFS6chr5

1814452

+
5CDS-intronENST00000334557ENST00000510329FMR1chrX

146993748

+NDUFS6chr5

1814452

+
In-frameENST00000439526ENST00000274137FMR1chrX

146993748

+NDUFS6chr5

1814452

+
Frame-shiftENST00000439526ENST00000469176FMR1chrX

146993748

+NDUFS6chr5

1814452

+
5CDS-intronENST00000439526ENST00000510329FMR1chrX

146993748

+NDUFS6chr5

1814452

+
In-frameENST00000370475ENST00000274137FMR1chrX

146993748

+NDUFS6chr5

1814452

+
Frame-shiftENST00000370475ENST00000469176FMR1chrX

146993748

+NDUFS6chr5

1814452

+
5CDS-intronENST00000370475ENST00000510329FMR1chrX

146993748

+NDUFS6chr5

1814452

+
In-frameENST00000370470ENST00000274137FMR1chrX

146993748

+NDUFS6chr5

1814452

+
Frame-shiftENST00000370470ENST00000469176FMR1chrX

146993748

+NDUFS6chr5

1814452

+
5CDS-intronENST00000370470ENST00000510329FMR1chrX

146993748

+NDUFS6chr5

1814452

+
intron-3CDSENST00000440235ENST00000274137FMR1chrX

146993748

+NDUFS6chr5

1814452

+
intron-3CDSENST00000440235ENST00000469176FMR1chrX

146993748

+NDUFS6chr5

1814452

+
intron-intronENST00000440235ENST00000510329FMR1chrX

146993748

+NDUFS6chr5

1814452

+
intron-3CDSENST00000492846ENST00000274137FMR1chrX

146993748

+NDUFS6chr5

1814452

+
intron-3CDSENST00000492846ENST00000469176FMR1chrX

146993748

+NDUFS6chr5

1814452

+
intron-intronENST00000492846ENST00000510329FMR1chrX

146993748

+NDUFS6chr5

1814452

+

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)
ENST00000218200FMR1chrX146993748+ENST00000274137NDUFS6chr51814452+11582807251105126
ENST00000370471FMR1chrX146993748+ENST00000274137NDUFS6chr51814452+11582807251105126
ENST00000370477FMR1chrX146993748+ENST00000274137NDUFS6chr51814452+11462687131093126
ENST00000334557FMR1chrX146993748+ENST00000274137NDUFS6chr51814452+10571796241004126
ENST00000439526FMR1chrX146993748+ENST00000274137NDUFS6chr51814452+10571796241004126
ENST00000370475FMR1chrX146993748+ENST00000274137NDUFS6chr51814452+10571796241004126
ENST00000370470FMR1chrX146993748+ENST00000274137NDUFS6chr51814452+92951496876126

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
ENST00000218200ENST00000274137FMR1chrX146993748+NDUFS6chr51814452+0.26886830.73113173
ENST00000370471ENST00000274137FMR1chrX146993748+NDUFS6chr51814452+0.26886830.73113173
ENST00000370477ENST00000274137FMR1chrX146993748+NDUFS6chr51814452+0.187252970.81274706
ENST00000334557ENST00000274137FMR1chrX146993748+NDUFS6chr51814452+0.263362020.736638
ENST00000439526ENST00000274137FMR1chrX146993748+NDUFS6chr51814452+0.263362020.736638
ENST00000370475ENST00000274137FMR1chrX146993748+NDUFS6chr51814452+0.263362020.736638
ENST00000370470ENST00000274137FMR1chrX146993748+NDUFS6chr51814452+0.65608220.34391776

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Fusion Genomic Features for FMR1-NDUFS6


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)
FMR1chrX146993748+NDUFS6chr51814452+1.05E-111
FMR1chrX146993748+NDUFS6chr51814452+1.05E-111

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 FMR1-NDUFS6


check button Go to

FGviewer for the breakpoints of chrX:146993748-chr5:1814452

.
- 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
.NDUFS6

O75380

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: Accessory subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (Complex I), that is believed not to be involved in catalysis. Complex I functions in the transfer of electrons from NADH to the respiratory chain. The immediate electron acceptor for the enzyme is believed to be ubiquinone. {ECO:0000269|PubMed:27626371}.

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
HgeneFMR1chrX:146993748chr5:1814452ENST00000370470+117222_25117.0591.0DomainKH 1
HgeneFMR1chrX:146993748chr5:1814452ENST00000370470+117285_31417.0591.0DomainKH 2
HgeneFMR1chrX:146993748chr5:1814452ENST00000370470+1174_5017.0591.0DomainAgenet-like 1
HgeneFMR1chrX:146993748chr5:1814452ENST00000370470+11763_11517.0591.0DomainAgenet-like 2
HgeneFMR1chrX:146993748chr5:1814452ENST00000370475+117222_25117.0633.0DomainKH 1
HgeneFMR1chrX:146993748chr5:1814452ENST00000370475+117285_31417.0633.0DomainKH 2
HgeneFMR1chrX:146993748chr5:1814452ENST00000370475+1174_5017.0633.0DomainAgenet-like 1
HgeneFMR1chrX:146993748chr5:1814452ENST00000370475+11763_11517.0633.0DomainAgenet-like 2
HgeneFMR1chrX:146993748chr5:1814452ENST00000370470+117424_44317.0591.0MotifNuclear export signal
HgeneFMR1chrX:146993748chr5:1814452ENST00000370475+117424_44317.0633.0MotifNuclear export signal
HgeneFMR1chrX:146993748chr5:1814452ENST00000370470+1171_18417.0591.0RegionRequired for nuclear localization
HgeneFMR1chrX:146993748chr5:1814452ENST00000370470+117397_49117.0591.0RegionRequired for nuclear export
HgeneFMR1chrX:146993748chr5:1814452ENST00000370470+117534_54817.0591.0RegionNote=RNA-binding RGG-box
HgeneFMR1chrX:146993748chr5:1814452ENST00000370475+1171_18417.0633.0RegionRequired for nuclear localization
HgeneFMR1chrX:146993748chr5:1814452ENST00000370475+117397_49117.0633.0RegionRequired for nuclear export
HgeneFMR1chrX:146993748chr5:1814452ENST00000370475+117534_54817.0633.0RegionNote=RNA-binding RGG-box


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Fusion Gene Sequence for FMR1-NDUFS6


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_ENST00000218200_ENST00000274137_TCGA-CG-5721_FMR1_chrX_146993748_+_NDUFS6_chr5_1814452_length(transcript)=1158nt_BP=280nt
ACTTCCGGTGGAGGGCCGCCTCTGAGCGGGCGGCGGGCCGACGGCGAGCGCGGGCGGCGGCGGTGACGGAGGCGCCGCTGCCAGGGGGCG
TGCGGCAGCGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGAGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCTGGGCCTCGAGCGCCCGCA
GCCCACCTCTCGGGGGCGGGCTCCCGGCGCTAGCAGGGCTGAAGAGAAGATGGAGGAGCTGGTGGTGGAAGTGCGGGGCTCCAATGGCGC
TTTCTACAAGGTGAATGAAAACTTTGCCATTGATTTGATAGCAGAGCAGCCCGTGAGCGAGGTGGAGACTCGGGTGATAGCGTGCGATGG
CGGCGGGGGAGCTCTTGGCCACCCAAAAGTGTATATAAACTTGGACAAAGAAACAAAAACCGGCACATGCGGTTACTGTGGGCTCCAGTT
CAGACAGCACCACCACTAGAGCGTGTGGCACGCCGGGGGTCCCGCAGCATCCTGTGAGCATTTCCGCGGGGAAGCTGAGCACGTGAAGCT
CGCTGGTTCTGTGCGAAGGGTATTCCTGGTGCTGAATAAAGGGTGTTGCTGTCAAGGCTGACAATTTGTAAGTTTGTTTCTTTCATAGTC
TGGGCTTTGGAAGTGAACATCCACGTGGACATGGGTAGACATGCGAGTGGAAGCAGTGCCCGCTCCAGTGAGCCTGAGCTGCCTCCTGCC
GGCCGCTGCCTGCCTTACCGGCTGCTTCTGTGTGTCTCCTCTTATCCTTGGGGCCACGTGGGCTGCAGGAATGGGCGGGGGGCAGGGAAG
GAGAAGGAGAAGTGCCTCTTGTTTTGCAGATGCAACTGTGCTTCAGAGAGCCAAGGTGGGTCTTGAGGTGCATAGTGAAGGAGGGTGCCC
AGGCCTCAACTGGTCCTATGGGAAGGTCAGCCTCTCTCCTGTTGCTGGCTTGCAGAGCTGGTCTATCCGTCCGTCCTAGTCCCTATGTTG
AAATGTCAGATCTTAAAACCCAAGAATTTAAGCACTGGTTTGAAGGCATCGAAAGTCACATACTGGCCACATTAAGGACAGTCTATGTTT

>In-frame_ENST00000218200_ENST00000274137_TCGA-CG-5721_FMR1_chrX_146993748_+_NDUFS6_chr5_1814452_length(amino acids)=126AA_start in transcript=725_stop in transcript=1105
MPALPAASVCLLLSLGPRGLQEWAGGREGEGEVPLVLQMQLCFREPRWVLRCIVKEGAQASTGPMGRSASLLLLACRAGLSVRPSPYVEM

--------------------------------------------------------------
>In-frame_ENST00000370471_ENST00000274137_TCGA-CG-5721_FMR1_chrX_146993748_+_NDUFS6_chr5_1814452_length(transcript)=1158nt_BP=280nt
ACTTCCGGTGGAGGGCCGCCTCTGAGCGGGCGGCGGGCCGACGGCGAGCGCGGGCGGCGGCGGTGACGGAGGCGCCGCTGCCAGGGGGCG
TGCGGCAGCGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGAGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCTGGGCCTCGAGCGCCCGCA
GCCCACCTCTCGGGGGCGGGCTCCCGGCGCTAGCAGGGCTGAAGAGAAGATGGAGGAGCTGGTGGTGGAAGTGCGGGGCTCCAATGGCGC
TTTCTACAAGGTGAATGAAAACTTTGCCATTGATTTGATAGCAGAGCAGCCCGTGAGCGAGGTGGAGACTCGGGTGATAGCGTGCGATGG
CGGCGGGGGAGCTCTTGGCCACCCAAAAGTGTATATAAACTTGGACAAAGAAACAAAAACCGGCACATGCGGTTACTGTGGGCTCCAGTT
CAGACAGCACCACCACTAGAGCGTGTGGCACGCCGGGGGTCCCGCAGCATCCTGTGAGCATTTCCGCGGGGAAGCTGAGCACGTGAAGCT
CGCTGGTTCTGTGCGAAGGGTATTCCTGGTGCTGAATAAAGGGTGTTGCTGTCAAGGCTGACAATTTGTAAGTTTGTTTCTTTCATAGTC
TGGGCTTTGGAAGTGAACATCCACGTGGACATGGGTAGACATGCGAGTGGAAGCAGTGCCCGCTCCAGTGAGCCTGAGCTGCCTCCTGCC
GGCCGCTGCCTGCCTTACCGGCTGCTTCTGTGTGTCTCCTCTTATCCTTGGGGCCACGTGGGCTGCAGGAATGGGCGGGGGGCAGGGAAG
GAGAAGGAGAAGTGCCTCTTGTTTTGCAGATGCAACTGTGCTTCAGAGAGCCAAGGTGGGTCTTGAGGTGCATAGTGAAGGAGGGTGCCC
AGGCCTCAACTGGTCCTATGGGAAGGTCAGCCTCTCTCCTGTTGCTGGCTTGCAGAGCTGGTCTATCCGTCCGTCCTAGTCCCTATGTTG
AAATGTCAGATCTTAAAACCCAAGAATTTAAGCACTGGTTTGAAGGCATCGAAAGTCACATACTGGCCACATTAAGGACAGTCTATGTTT

>In-frame_ENST00000370471_ENST00000274137_TCGA-CG-5721_FMR1_chrX_146993748_+_NDUFS6_chr5_1814452_length(amino acids)=126AA_start in transcript=725_stop in transcript=1105
MPALPAASVCLLLSLGPRGLQEWAGGREGEGEVPLVLQMQLCFREPRWVLRCIVKEGAQASTGPMGRSASLLLLACRAGLSVRPSPYVEM

--------------------------------------------------------------
>In-frame_ENST00000370477_ENST00000274137_TCGA-CG-5721_FMR1_chrX_146993748_+_NDUFS6_chr5_1814452_length(transcript)=1146nt_BP=268nt
GGGCCGCCTCTGAGCGGGCGGCGGGCCGACGGCGAGCGCGGGCGGCGGCGGTGACGGAGGCGCCGCTGCCAGGGGGCGTGCGGCAGCGCG
GCGGCGGCGGCGGCGGCGGCGGCGGCGGAGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCTGGGCCTCGAGCGCCCGCAGCCCACCTCTCG
GGGGCGGGCTCCCGGCGCTAGCAGGGCTGAAGAGAAGATGGAGGAGCTGGTGGTGGAAGTGCGGGGCTCCAATGGCGCTTTCTACAAGGT
GAATGAAAACTTTGCCATTGATTTGATAGCAGAGCAGCCCGTGAGCGAGGTGGAGACTCGGGTGATAGCGTGCGATGGCGGCGGGGGAGC
TCTTGGCCACCCAAAAGTGTATATAAACTTGGACAAAGAAACAAAAACCGGCACATGCGGTTACTGTGGGCTCCAGTTCAGACAGCACCA
CCACTAGAGCGTGTGGCACGCCGGGGGTCCCGCAGCATCCTGTGAGCATTTCCGCGGGGAAGCTGAGCACGTGAAGCTCGCTGGTTCTGT
GCGAAGGGTATTCCTGGTGCTGAATAAAGGGTGTTGCTGTCAAGGCTGACAATTTGTAAGTTTGTTTCTTTCATAGTCTGGGCTTTGGAA
GTGAACATCCACGTGGACATGGGTAGACATGCGAGTGGAAGCAGTGCCCGCTCCAGTGAGCCTGAGCTGCCTCCTGCCGGCCGCTGCCTG
CCTTACCGGCTGCTTCTGTGTGTCTCCTCTTATCCTTGGGGCCACGTGGGCTGCAGGAATGGGCGGGGGGCAGGGAAGGAGAAGGAGAAG
TGCCTCTTGTTTTGCAGATGCAACTGTGCTTCAGAGAGCCAAGGTGGGTCTTGAGGTGCATAGTGAAGGAGGGTGCCCAGGCCTCAACTG
GTCCTATGGGAAGGTCAGCCTCTCTCCTGTTGCTGGCTTGCAGAGCTGGTCTATCCGTCCGTCCTAGTCCCTATGTTGAAATGTCAGATC
TTAAAACCCAAGAATTTAAGCACTGGTTTGAAGGCATCGAAAGTCACATACTGGCCACATTAAGGACAGTCTATGTTTTTAAAAGAGTAA

>In-frame_ENST00000370477_ENST00000274137_TCGA-CG-5721_FMR1_chrX_146993748_+_NDUFS6_chr5_1814452_length(amino acids)=126AA_start in transcript=713_stop in transcript=1093
MPALPAASVCLLLSLGPRGLQEWAGGREGEGEVPLVLQMQLCFREPRWVLRCIVKEGAQASTGPMGRSASLLLLACRAGLSVRPSPYVEM

--------------------------------------------------------------
>In-frame_ENST00000334557_ENST00000274137_TCGA-CG-5721_FMR1_chrX_146993748_+_NDUFS6_chr5_1814452_length(transcript)=1057nt_BP=179nt
GGCGGCGGCGGCGGCGGCGGCGGCGGCGGAGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCTGGGCCTCGAGCGCCCGCAGCCCACCTCTC
GGGGGCGGGCTCCCGGCGCTAGCAGGGCTGAAGAGAAGATGGAGGAGCTGGTGGTGGAAGTGCGGGGCTCCAATGGCGCTTTCTACAAGG
TGAATGAAAACTTTGCCATTGATTTGATAGCAGAGCAGCCCGTGAGCGAGGTGGAGACTCGGGTGATAGCGTGCGATGGCGGCGGGGGAG
CTCTTGGCCACCCAAAAGTGTATATAAACTTGGACAAAGAAACAAAAACCGGCACATGCGGTTACTGTGGGCTCCAGTTCAGACAGCACC
ACCACTAGAGCGTGTGGCACGCCGGGGGTCCCGCAGCATCCTGTGAGCATTTCCGCGGGGAAGCTGAGCACGTGAAGCTCGCTGGTTCTG
TGCGAAGGGTATTCCTGGTGCTGAATAAAGGGTGTTGCTGTCAAGGCTGACAATTTGTAAGTTTGTTTCTTTCATAGTCTGGGCTTTGGA
AGTGAACATCCACGTGGACATGGGTAGACATGCGAGTGGAAGCAGTGCCCGCTCCAGTGAGCCTGAGCTGCCTCCTGCCGGCCGCTGCCT
GCCTTACCGGCTGCTTCTGTGTGTCTCCTCTTATCCTTGGGGCCACGTGGGCTGCAGGAATGGGCGGGGGGCAGGGAAGGAGAAGGAGAA
GTGCCTCTTGTTTTGCAGATGCAACTGTGCTTCAGAGAGCCAAGGTGGGTCTTGAGGTGCATAGTGAAGGAGGGTGCCCAGGCCTCAACT
GGTCCTATGGGAAGGTCAGCCTCTCTCCTGTTGCTGGCTTGCAGAGCTGGTCTATCCGTCCGTCCTAGTCCCTATGTTGAAATGTCAGAT
CTTAAAACCCAAGAATTTAAGCACTGGTTTGAAGGCATCGAAAGTCACATACTGGCCACATTAAGGACAGTCTATGTTTTTAAAAGAGTA

>In-frame_ENST00000334557_ENST00000274137_TCGA-CG-5721_FMR1_chrX_146993748_+_NDUFS6_chr5_1814452_length(amino acids)=126AA_start in transcript=624_stop in transcript=1004
MPALPAASVCLLLSLGPRGLQEWAGGREGEGEVPLVLQMQLCFREPRWVLRCIVKEGAQASTGPMGRSASLLLLACRAGLSVRPSPYVEM

--------------------------------------------------------------
>In-frame_ENST00000439526_ENST00000274137_TCGA-CG-5721_FMR1_chrX_146993748_+_NDUFS6_chr5_1814452_length(transcript)=1057nt_BP=179nt
GGCGGCGGCGGCGGCGGCGGCGGCGGCGGAGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCTGGGCCTCGAGCGCCCGCAGCCCACCTCTC
GGGGGCGGGCTCCCGGCGCTAGCAGGGCTGAAGAGAAGATGGAGGAGCTGGTGGTGGAAGTGCGGGGCTCCAATGGCGCTTTCTACAAGG
TGAATGAAAACTTTGCCATTGATTTGATAGCAGAGCAGCCCGTGAGCGAGGTGGAGACTCGGGTGATAGCGTGCGATGGCGGCGGGGGAG
CTCTTGGCCACCCAAAAGTGTATATAAACTTGGACAAAGAAACAAAAACCGGCACATGCGGTTACTGTGGGCTCCAGTTCAGACAGCACC
ACCACTAGAGCGTGTGGCACGCCGGGGGTCCCGCAGCATCCTGTGAGCATTTCCGCGGGGAAGCTGAGCACGTGAAGCTCGCTGGTTCTG
TGCGAAGGGTATTCCTGGTGCTGAATAAAGGGTGTTGCTGTCAAGGCTGACAATTTGTAAGTTTGTTTCTTTCATAGTCTGGGCTTTGGA
AGTGAACATCCACGTGGACATGGGTAGACATGCGAGTGGAAGCAGTGCCCGCTCCAGTGAGCCTGAGCTGCCTCCTGCCGGCCGCTGCCT
GCCTTACCGGCTGCTTCTGTGTGTCTCCTCTTATCCTTGGGGCCACGTGGGCTGCAGGAATGGGCGGGGGGCAGGGAAGGAGAAGGAGAA
GTGCCTCTTGTTTTGCAGATGCAACTGTGCTTCAGAGAGCCAAGGTGGGTCTTGAGGTGCATAGTGAAGGAGGGTGCCCAGGCCTCAACT
GGTCCTATGGGAAGGTCAGCCTCTCTCCTGTTGCTGGCTTGCAGAGCTGGTCTATCCGTCCGTCCTAGTCCCTATGTTGAAATGTCAGAT
CTTAAAACCCAAGAATTTAAGCACTGGTTTGAAGGCATCGAAAGTCACATACTGGCCACATTAAGGACAGTCTATGTTTTTAAAAGAGTA

>In-frame_ENST00000439526_ENST00000274137_TCGA-CG-5721_FMR1_chrX_146993748_+_NDUFS6_chr5_1814452_length(amino acids)=126AA_start in transcript=624_stop in transcript=1004
MPALPAASVCLLLSLGPRGLQEWAGGREGEGEVPLVLQMQLCFREPRWVLRCIVKEGAQASTGPMGRSASLLLLACRAGLSVRPSPYVEM

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>In-frame_ENST00000370475_ENST00000274137_TCGA-CG-5721_FMR1_chrX_146993748_+_NDUFS6_chr5_1814452_length(transcript)=1057nt_BP=179nt
GGCGGCGGCGGCGGCGGCGGCGGCGGCGGAGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCTGGGCCTCGAGCGCCCGCAGCCCACCTCTC
GGGGGCGGGCTCCCGGCGCTAGCAGGGCTGAAGAGAAGATGGAGGAGCTGGTGGTGGAAGTGCGGGGCTCCAATGGCGCTTTCTACAAGG
TGAATGAAAACTTTGCCATTGATTTGATAGCAGAGCAGCCCGTGAGCGAGGTGGAGACTCGGGTGATAGCGTGCGATGGCGGCGGGGGAG
CTCTTGGCCACCCAAAAGTGTATATAAACTTGGACAAAGAAACAAAAACCGGCACATGCGGTTACTGTGGGCTCCAGTTCAGACAGCACC
ACCACTAGAGCGTGTGGCACGCCGGGGGTCCCGCAGCATCCTGTGAGCATTTCCGCGGGGAAGCTGAGCACGTGAAGCTCGCTGGTTCTG
TGCGAAGGGTATTCCTGGTGCTGAATAAAGGGTGTTGCTGTCAAGGCTGACAATTTGTAAGTTTGTTTCTTTCATAGTCTGGGCTTTGGA
AGTGAACATCCACGTGGACATGGGTAGACATGCGAGTGGAAGCAGTGCCCGCTCCAGTGAGCCTGAGCTGCCTCCTGCCGGCCGCTGCCT
GCCTTACCGGCTGCTTCTGTGTGTCTCCTCTTATCCTTGGGGCCACGTGGGCTGCAGGAATGGGCGGGGGGCAGGGAAGGAGAAGGAGAA
GTGCCTCTTGTTTTGCAGATGCAACTGTGCTTCAGAGAGCCAAGGTGGGTCTTGAGGTGCATAGTGAAGGAGGGTGCCCAGGCCTCAACT
GGTCCTATGGGAAGGTCAGCCTCTCTCCTGTTGCTGGCTTGCAGAGCTGGTCTATCCGTCCGTCCTAGTCCCTATGTTGAAATGTCAGAT
CTTAAAACCCAAGAATTTAAGCACTGGTTTGAAGGCATCGAAAGTCACATACTGGCCACATTAAGGACAGTCTATGTTTTTAAAAGAGTA

>In-frame_ENST00000370475_ENST00000274137_TCGA-CG-5721_FMR1_chrX_146993748_+_NDUFS6_chr5_1814452_length(amino acids)=126AA_start in transcript=624_stop in transcript=1004
MPALPAASVCLLLSLGPRGLQEWAGGREGEGEVPLVLQMQLCFREPRWVLRCIVKEGAQASTGPMGRSASLLLLACRAGLSVRPSPYVEM

--------------------------------------------------------------
>In-frame_ENST00000370470_ENST00000274137_TCGA-CG-5721_FMR1_chrX_146993748_+_NDUFS6_chr5_1814452_length(transcript)=929nt_BP=51nt
ATGGAGGAGCTGGTGGTGGAAGTGCGGGGCTCCAATGGCGCTTTCTACAAGGTGAATGAAAACTTTGCCATTGATTTGATAGCAGAGCAG
CCCGTGAGCGAGGTGGAGACTCGGGTGATAGCGTGCGATGGCGGCGGGGGAGCTCTTGGCCACCCAAAAGTGTATATAAACTTGGACAAA
GAAACAAAAACCGGCACATGCGGTTACTGTGGGCTCCAGTTCAGACAGCACCACCACTAGAGCGTGTGGCACGCCGGGGGTCCCGCAGCA
TCCTGTGAGCATTTCCGCGGGGAAGCTGAGCACGTGAAGCTCGCTGGTTCTGTGCGAAGGGTATTCCTGGTGCTGAATAAAGGGTGTTGC
TGTCAAGGCTGACAATTTGTAAGTTTGTTTCTTTCATAGTCTGGGCTTTGGAAGTGAACATCCACGTGGACATGGGTAGACATGCGAGTG
GAAGCAGTGCCCGCTCCAGTGAGCCTGAGCTGCCTCCTGCCGGCCGCTGCCTGCCTTACCGGCTGCTTCTGTGTGTCTCCTCTTATCCTT
GGGGCCACGTGGGCTGCAGGAATGGGCGGGGGGCAGGGAAGGAGAAGGAGAAGTGCCTCTTGTTTTGCAGATGCAACTGTGCTTCAGAGA
GCCAAGGTGGGTCTTGAGGTGCATAGTGAAGGAGGGTGCCCAGGCCTCAACTGGTCCTATGGGAAGGTCAGCCTCTCTCCTGTTGCTGGC
TTGCAGAGCTGGTCTATCCGTCCGTCCTAGTCCCTATGTTGAAATGTCAGATCTTAAAACCCAAGAATTTAAGCACTGGTTTGAAGGCAT
CGAAAGTCACATACTGGCCACATTAAGGACAGTCTATGTTTTTAAAAGAGTAAGGATTATAATGTAGTGTAACATAAAAATAAAAGTAGA

>In-frame_ENST00000370470_ENST00000274137_TCGA-CG-5721_FMR1_chrX_146993748_+_NDUFS6_chr5_1814452_length(amino acids)=126AA_start in transcript=496_stop in transcript=876
MPALPAASVCLLLSLGPRGLQEWAGGREGEGEVPLVLQMQLCFREPRWVLRCIVKEGAQASTGPMGRSASLLLLACRAGLSVRPSPYVEM

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Fusion Gene PPI Analysis for FMR1-NDUFS6


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
HgeneFMR1chrX:146993748chr5:1814452ENST00000370470+117419_63217.0591.0RANBP9
HgeneFMR1chrX:146993748chr5:1814452ENST00000370475+117419_63217.0633.0RANBP9


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 FMR1-NDUFS6


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.8 2021-05-08)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status
TgeneNDUFS6O75380DB00157NADHSmall moleculeApproved|Nutraceutical

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Related Diseases for FMR1-NDUFS6


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneFMR1C0016667Fragile X Syndrome37CLINGEN;CTD_human;GENOMICS_ENGLAND;UNIPROT
HgeneFMR1C0751156FRAXA Syndrome8CTD_human
HgeneFMR1C0751157FRAXE Syndrome8CTD_human
HgeneFMR1C0004352Autistic Disorder5CTD_human
HgeneFMR1C0020796Profound Mental Retardation2CTD_human
HgeneFMR1C0025363Mental Retardation, Psychosocial2CTD_human
HgeneFMR1C0036341Schizophrenia2PSYGENET
HgeneFMR1C0041696Unipolar Depression2PSYGENET
HgeneFMR1C0376634Craniofacial Abnormalities2CTD_human
HgeneFMR1C0917816Mental deficiency2CTD_human
HgeneFMR1C1269683Major Depressive Disorder2PSYGENET
HgeneFMR1C1839780FRAGILE X TREMOR/ATAXIA SYNDROME2CTD_human;GENOMICS_ENGLAND;ORPHANET
HgeneFMR1C3714756Intellectual Disability2CTD_human
HgeneFMR1C0000768Congenital Abnormality1CTD_human
HgeneFMR1C0003469Anxiety Disorders1CTD_human
HgeneFMR1C0009241Cognition Disorders1CTD_human
HgeneFMR1C0018051Gonadal Dysgenesis1CTD_human
HgeneFMR1C0085215Ovarian Failure, Premature1CTD_human
HgeneFMR1C0086132Depressive Symptoms1PSYGENET
HgeneFMR1C0086367Gonadotropin-Resistant Ovary Syndrome1CTD_human
HgeneFMR1C0282631Facies1CTD_human
HgeneFMR1C0338908Mixed anxiety and depressive disorder1PSYGENET
HgeneFMR1C0376280Anxiety States, Neurotic1CTD_human
HgeneFMR1C0949331Gonadal Agenesis1CTD_human
HgeneFMR1C1279420Anxiety neurosis (finding)1CTD_human
HgeneFMR1C2678248Mood instability1PSYGENET
HgeneFMR1C3275521CHROMOSOME Xq27.3-q28 DUPLICATION SYNDROME1ORPHANET
HgeneFMR1C3494522Hypergonadotropic Ovarian Failure, X-Linked1CTD_human
HgeneFMR1C4552079Premature Ovarian Failure 11CTD_human;GENOMICS_ENGLAND
TgeneNDUFS6C1838979MITOCHONDRIAL COMPLEX I DEFICIENCY5GENOMICS_ENGLAND;ORPHANET
TgeneNDUFS6C4748767MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 92GENOMICS_ENGLAND;UNIPROT
TgeneNDUFS6C0751651Mitochondrial Diseases1GENOMICS_ENGLAND