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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:ATF6-STX6 (FusionGDB2 ID:7535)

Fusion Gene Summary for ATF6-STX6

check button Fusion gene summary
Fusion gene informationFusion gene name: ATF6-STX6
Fusion gene ID: 7535
HgeneTgene
Gene symbol

ATF6

STX6

Gene ID

22926

10228

Gene nameactivating transcription factor 6syntaxin 6
SynonymsACHM7|ATF6A-
Cytomap

1q23.3

1q25.3

Type of geneprotein-codingprotein-coding
Descriptioncyclic AMP-dependent transcription factor ATF-6 alphacAMP-dependent transcription factor ATF-6 alphasyntaxin-6
Modification date2020031320200313
UniProtAcc..
Ensembl transtripts involved in fusion geneENST00000367942, ENST00000476437, 
ENST00000258301, ENST00000469135, 
ENST00000542060, 
Fusion gene scores* DoF score12 X 10 X 8=9603 X 3 X 3=27
# samples 123
** MAII scorelog2(12/960*10)=-3
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(3/27*10)=0.15200309344505
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
Context

PubMed: ATF6 [Title/Abstract] AND STX6 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointATF6(161772062)-STX6(180962561), # samples:2
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
HgeneATF6

GO:0043065

positive regulation of apoptotic process

14752510

HgeneATF6

GO:0045944

positive regulation of transcription by RNA polymerase II

14973138

HgeneATF6

GO:1903893

positive regulation of ATF6-mediated unfolded protein response

9837962

HgeneATF6

GO:1990440

positive regulation of transcription from RNA polymerase II promoter in response to endoplasmic reticulum stress

11163209|11256944|16469704


check buttonFusion gene breakpoints across ATF6 (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 STX6 (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
ChimerDB4ESCATCGA-LN-A49MATF6chr1

161772062

+STX6chr1

180962561

-
ChimerDB4ESCATCGA-LN-A49MATF6chr1

161772062

+STX6chr1

180962561

-


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Fusion Gene ORF analysis for ATF6-STX6

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-frameENST00000367942ENST00000258301ATF6chr1

161772062

+STX6chr1

180962561

-
5CDS-intronENST00000367942ENST00000469135ATF6chr1

161772062

+STX6chr1

180962561

-
5CDS-5UTRENST00000367942ENST00000542060ATF6chr1

161772062

+STX6chr1

180962561

-
intron-3CDSENST00000476437ENST00000258301ATF6chr1

161772062

+STX6chr1

180962561

-
intron-intronENST00000476437ENST00000469135ATF6chr1

161772062

+STX6chr1

180962561

-
intron-5UTRENST00000476437ENST00000542060ATF6chr1

161772062

+STX6chr1

180962561

-

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)
ENST00000367942ATF6chr1161772062+ENST00000258301STX6chr1180962561-5289976101443477

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
ENST00000367942ENST00000258301ATF6chr1161772062+STX6chr1180962561-0.0003837630.99961627

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Fusion Genomic Features for ATF6-STX6


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)

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 ATF6-STX6


check button Go to

FGviewer for the breakpoints of chr1:161772062-chr1:180962561

.
- 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
HgeneATF6chr1:161772062chr1:180962561ENST00000367942+716124_127303.0671.0Compositional biasNote=Poly-Ser
HgeneATF6chr1:161772062chr1:180962561ENST00000367942+7161_150303.0671.0RegionTranscription activation
TgeneSTX6chr1:161772062chr1:180962561ENST0000025830128163_225100.0256.0Domaint-SNARE coiled-coil homology
TgeneSTX6chr1:161772062chr1:180962561ENST0000025830128235_255100.0256.0TransmembraneHelical%3B Anchor for type IV membrane protein

- In-frame and not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgeneATF6chr1:161772062chr1:180962561ENST00000367942+716325_328303.0671.0Compositional biasNote=Poly-Lys
HgeneATF6chr1:161772062chr1:180962561ENST00000367942+716463_466303.0671.0Compositional biasNote=Poly-Pro
HgeneATF6chr1:161772062chr1:180962561ENST00000367942+716306_369303.0671.0DomainbZIP
HgeneATF6chr1:161772062chr1:180962561ENST00000367942+716308_339303.0671.0RegionNote=Basic motif
HgeneATF6chr1:161772062chr1:180962561ENST00000367942+716348_355303.0671.0RegionNote=Leucine-zipper
HgeneATF6chr1:161772062chr1:180962561ENST00000367942+7161_377303.0671.0Topological domainCytoplasmic
HgeneATF6chr1:161772062chr1:180962561ENST00000367942+716399_670303.0671.0Topological domainLumenal
HgeneATF6chr1:161772062chr1:180962561ENST00000367942+716378_398303.0671.0TransmembraneHelical%3B Signal-anchor for type II membrane protein
TgeneSTX6chr1:161772062chr1:180962561ENST000002583012841_74100.0256.0Coiled coilOntology_term=ECO:0000255
TgeneSTX6chr1:161772062chr1:180962561ENST00000258301282_234100.0256.0Topological domainCytoplasmic


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Fusion Gene Sequence for ATF6-STX6


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_ENST00000367942_ENST00000258301_TCGA-LN-A49M_ATF6_chr1_161772062_+_STX6_chr1_180962561_length(transcript)=5289nt_BP=976nt
TTTTGTCCGCCTGCCGCCGCCGTCCCAGATATTAATCACGGAGTTCCAGGGAGAAGGAACTTGTGAAATGGGGGAGCCGGCTGGGGTTGC
CGGCACCATGGAGTCACCTTTTAGCCCGGGACTCTTTCACAGGCTGGATGAAGATTGGGATTCTGCTCTCTTTGCTGAACTCGGTTATTT
CACAGACACTGATGAGCTGCAATTGGAAGCAGCAAATGAGACGTATGAAAACAATTTTGATAATCTTGATTTTGATTTGGATTTGATGCC
TTGGGAGTCAGACATTTGGGACATCAACAACCAAATCTGTACAGTTAAAGATATTAAGGCAGAACCTCAGCCACTTTCTCCAGCCTCCTC
AAGTTATTCAGTCTCGTCTCCTCGGTCAGTGGACTCTTATTCTTCAACTCAGCATGTTCCTGAGGAGTTGGATTTGTCTTCTAGTTCTCA
GATGTCTCCCCTTTCCTTATATGGTGAAAACTCTAATAGTCTCTCTTCAGCGGAGCCACTGAAGGAAGATAAGCCTGTCACTGGTCCTAG
GAACAAGACTGAAAATGGACTGACTCCAAAGAAAAAAATTCAGGTGAATTCAAAACCTTCAATTCAGCCCAAGCCTTTATTGCTTCCAGC
AGCACCCAAGACTCAAACAAACTCCAGTGTTCCAGCAAAAACCATCATTATTCAGACAGTACCAACGCTTATGCCATTGGCAAAGCAGCA
ACCAATTATCAGTTTACAACCTGCACCCACTAAAGGCCAGACGGTTTTGCTGTCTCAGCCTACTGTGGTACAACTTCAAGCACCTGGAGT
TCTGCCCTCTGCTCAGCCAGTCCTTGCTGTTGCTGGGGGAGTCACACAGCTCCCTAATCACGTGGTGAATGTGGTACCAGCCCCTTCAGC
GAATAGCCCAGTGAATGGAAAACTTTCCGTGACTAAACCTGTCCTACAAAGTACCATGAGAAATGTCGGTTCAGATGACATGAAAGATCA
GATGTCAACTTCATCTGTGCAGGCATTAGCTGAAAGAAAAAATAGACAGGCACTGCTGGGAGACAGTGGCAGCCAGAACTGGAGCACTGG
AACAACAGATAAATATGGGCGTCTGGACCGAGAGCTCCAGAGAGCCAATTCTCATTTCATTGAGGAGCAGCAGGCACAGCAGCAGTTGAT
CGTGGAACAGCAGGATGAGCAGTTGGAGCTGGTCTCTGGCAGCATCGGGGTGCTGAAGAACATGTCCCAGCGCATCGGAGGGGAGCTGGA
GGAACAGGCAGTTATGTTGGAAGATTTCTCTCACGAATTGGAGAGCACTCAGTCCCGGCTGGACAATGTGATGAAGAAACTTGCAAAAGT
ATCTCATATGACCAGTGATCGGCGCCAATGGTGTGCCATAGCCATCCTCTTTGCAGTCCTGTTGGTTGTGCTCATCCTCTTCTTAGTGCT
GTGACGGCGGGGCCTCTGGGTGCGAGTTCCTCCTGCATATGAACCGAGGGGAGGAGGAGAAGCTGAGCACGTGTGACATTGCCGTCTACT
CACATTCCTATCCTGGAAACATACTGCTGCACTGACTTTTCTCCGTGTGACCCCACAATTGACATGGCTCCTCCATCCCAGCGCTGGAAG
GGCCAGTGGGAAGAGGAAATAGATGTCTGCACTCCTGGCTGCAGCTGGACAACAGAAGCCCCATGCCGCCTGTCCAGTTCGGAGGAGAAC
TAGCTGCTGCCTTGCCTTCCGGGACCTCGTTTGCTGAGGAGGGACTTACAGACTCCACTGGTGTTTTGCTGTTGCTCATTCCATGCATCT
TTGGCAGCTCTTTTCTTCTGCTCAGACCCTTCCCCGTGCTCAGACAGTGCACCGCTGTCCCATCTAAAGAAACCTGTCAGGAATACGAGC
TTCTGGGTATGTTTCGTTTCCCATTGCTGTAGCATTTCTTATCCCCTGAGAGCTGATGATTATTGAGGACAGAAGGCTCAGAAACAGTTT
GTGACAGAAAATGCAGTGTTTCATTTTTCAGGGATAAATGCTAAGATAAAATTGCTTTTCCAGGTCATTTTTTTTTGTGGTAAGAATAAC
TAATGGAAAATAATGAAACACCCTGGGGTTTGGGGGTGCTAACAACTTGTGGCTTTAACTGACAGGAGCAATTAAAAAGAGCAAGAGGGT
TCTGCATTGGCATAGCTTAGGGAAGGGTTAATGATGTCGCCACAGGTCAGCTCCTGATCCTTGCCGACTTGATGTTGCTGTACCAGGGCT
TCCTCCCCAGAGGTGCAGCTTGCGTTTTGAGGGTGATTGCTACATATGTTGTTGCTAAACAGCTCAGTAACACACTTGAATGAATTTGGA
TACCAGATTGTCCTCATTACAGTTCTTTTACTCTTAGGGCACTCTACACTGGGGGTTGGGGTTGGGAGTGGTTAGTACATTTATTACATT
TATTAAGAAACGTAATGACATAAAAGGTTAGCTCTGGGCCAGACTTCTCTTACTCTGTGGGTAATGGCAAGGATGTGTAGGTAAACTTGG
TTCTTTTTTTTCCCTAAGATGACAGCTTGATTTTATCATCTGCAGTCAAATAACTGAGCCAATCCAAATTTAAATGATAGATGCTTTAAT
TGAGTTTAAGTAGCTGAAACTGCTGAGACACTAAACTTTAACCTTCTGATGACTTTTTAAAATGCCTCAAATGTGCACATGTATATAGGA
TATTTTTATAACTTCCCTGATGAATAATCTGATATTAAAGTAGTATTTGGACCCAGAGCCAGAACTCGGTGGTGGAGGCTGCTGGTCTCT
CCTCACCACCTTCTTTTGCACTTGGAAAGAACAGCAACATCTGGATAGAGTTCTAGCTTTGACTTCTCATTTCCTTGTCTTTTTGGGTGC
ATTCCTCAGCACACTTTTTTTTTAAACCTTTTTGTTTTGTTTTGTTTGTATTTCATGTGGTTTTATTTGGGGGTTTTGGTTTTTTCACCC
TTTTTTGTGATTTGCAATGATGTGCTTGCCCAGCTAACTTTTGAATTGCACTTTTTAATAAATATTCTTAACAATTTTTGAAGAAGGATA
TTTTATCTCATTTGAGATCATGGTAGGTTAAGAAAATATGCCTGTTGATGAAAGCTAAAAGCAAATTTATGAAACTAAAAGGGTGATTGA
CATCCATGTTTACACTCCGCTCTAATGTTTGATATATAAATAAGTTATTTTCAAATTAGGAAAAAACAGTGAGTATTACAAAGGGCTTCA
GATGTTTAGAGTACTAGGTTATTTATGTTTTACAAAGTTTGAATCTTCTATAAACTAAGAAAGGGGATGATCCTTAGATTTGCATTAAAA
TATAGAAGTCTTTTAAAGTAAATGTGAACCTTGTCTAAGTACTGTAATCCACACAACACATTATAAGAAGCAAACCAGCATCTTAAGGAA
TTATAAAATTACCCTATTTAAAAGCCATGCTATTGTTCTGCTATTACCAGATTTATTGTGCCACACAAAAGGATCATGTGTGTCAGCAGG
GGCCGTTTGGAACAAACCTAGTCATTAATGAGTAAGATACTCCTGTTAGTTCAGGGACCAAGTTTTATGACCCAGAGGCTTAATGATGTT
TGGATATATTTCAAATCGGCGTGCTTACCTCACTGATTTAAATTATTTTCTAAATAGTGGCCATTGTAGACCTGACTCAGGCTGAAGCTA
AATAGAGAACAATTTAGAAAGTTAACTAACAATACAGTGCATTCTACCCGTAGGGCCACCATGCCCTTCTGCCCCTGGCTGATTTGATCC
TGTGTCTGATCCCATTGCACCCTGACTGGGCAGTCCCTACAGAACCAGTGTTAATTTGAAGGGCCTCCACTCAGGCTCCAAATGTGGCAG
CCAAAGAGAACAATCCAGGGAACCTACATTTATTTTTAAGGACAAATATTTCCTCCTCAGTGGTCCTAATGTTCAGGGCTTTAGAGGGAA
CCCAGGTGGTCTCTTCACCCTGTGTCCTAGAATGGGAGAGTAAGTAGACAGTGGTGATAACCCCACACTGCTTATAAGTGCATCTTTATA
GTATTTGGGGCTTTCCTACCCCTTTAGCCTTCTGTACCTAGTACCATATTCCAGTTTTAAAGAACTGGCAGAATGTGATGGATAACAGAG
GAAGAGCTCAATTTATGTTTATTGGAAGAACATTTTACTTAAATGATTTGAGGGGTGGGAGGGAGTGAACTACTGAGTTTGCCAGAGTGA
AAATCCATCTGAAAAACTCAGCTACCTTTAGTTTTTAGTCCTCATTTTTGGTCTTGTCTCTGCGGACTGTGAAGAATCACAATGCTCTAT
ATGCCCTGGACTGTGTGGCAAATGCAGGTTGCAGCGTGTGTGTTACATGAGGATCTTCCACAATTTCAGAATGCACGCCAGAGCTGAAGG
GGGAAACTTGGTAACTTGCCCATTATTCTCTGCTTTTAGCCAGAGTTAAACAGACTGATGGGTCTGGTAGCCAACAACTTGGCAACTTCC
ACTCCTTCTCACCTCGTGAGATTAAGGGCTGTGAAAAGAAATCTAGTCTAACTCCAACAGAAATCTGTCTCTGTTAAGTGTTTTACCTTC
TGTAAGTAGAGATGGTAGAGCCAAGATTTTTCTTTTGGTAATTTCCCTGTCTATAAAGTGAGACCAAAGGGATATCTGTTCCCTGTTACC
TTTTTGGAGAATTCATAACATTTGAAGATCAAAAAATTGAATGATAAATATGAATGGCTTTTCAATTCTGTGGACTTTGTACCATTTGGC
TTCACCTTGTACTGCAAGATGAATTTGTAAACAAAACAAAATTGGACTGTCTGGAAAGCTAAAGTTCTGAAATATGGAATGTACTGCCTC
TAATTTTTCTTTGTCTTCCTCTCACTGGCATTTTTTTCTCTCCCAGGTTTCTTAAGAATAATGTTTTTTAAAGGAGGCTTTTTGCCCATC
AAGAATAAAAAGAAATAAAACCAAAGGGTTACCGGACTTAAGCCCCCGCAGTCACTGTGCGCCATCCCTGAGCAAAGTCCGCCCCTGAGG
ACAGTGCCCCTGCCCCAGTGACAGGCCTTACTCCTCCCAGGGCCTTTGCTTCTAATAGGGGGTGGTCTTTCTTTTCTTTCTCTCCTTTTT
TTTTTTTTGATTAAAAAATAAAACCAAACCAGAATTTGCTGAAAGCAGGTACCTTTCAGTAGCTCCGATCAGAGTAACTCAGCTTAGAGA

>In-frame_ENST00000367942_ENST00000258301_TCGA-LN-A49M_ATF6_chr1_161772062_+_STX6_chr1_180962561_length(amino acids)=477AA_start in transcript=10_stop in transcript=1443
MPPPSQILITEFQGEGTCEMGEPAGVAGTMESPFSPGLFHRLDEDWDSALFAELGYFTDTDELQLEAANETYENNFDNLDFDLDLMPWES
DIWDINNQICTVKDIKAEPQPLSPASSSYSVSSPRSVDSYSSTQHVPEELDLSSSSQMSPLSLYGENSNSLSSAEPLKEDKPVTGPRNKT
ENGLTPKKKIQVNSKPSIQPKPLLLPAAPKTQTNSSVPAKTIIIQTVPTLMPLAKQQPIISLQPAPTKGQTVLLSQPTVVQLQAPGVLPS
AQPVLAVAGGVTQLPNHVVNVVPAPSANSPVNGKLSVTKPVLQSTMRNVGSDDMKDQMSTSSVQALAERKNRQALLGDSGSQNWSTGTTD
KYGRLDRELQRANSHFIEEQQAQQQLIVEQQDEQLELVSGSIGVLKNMSQRIGGELEEQAVMLEDFSHELESTQSRLDNVMKKLAKVSHM

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

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Fusion Gene PPI Analysis for ATF6-STX6


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
HgeneATF6chr1:161772062chr1:180962561ENST00000367942+716468_589303.0671.0THBS4


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 ATF6-STX6


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 ATF6-STX6


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneATF6C0152200Achromatopsia2CTD_human;GENOMICS_ENGLAND;ORPHANET
HgeneATF6C4225297ACHROMATOPSIA 72CLINGEN;CTD_human;GENOMICS_ENGLAND;UNIPROT
HgeneATF6C0003949Asbestosis1CTD_human
HgeneATF6C0009398Color vision defect1CTD_human
HgeneATF6C0022336Creutzfeldt-Jakob disease1CTD_human
HgeneATF6C0035334Retinitis Pigmentosa1CTD_human
HgeneATF6C0036457Scrapie1CTD_human
HgeneATF6C0085636Photophobia1CTD_human
HgeneATF6C0155015Color Blindness, Red1CTD_human
HgeneATF6C0155016Color Blindness, Red-Green1CTD_human
HgeneATF6C0155017Color Blindness, Blue1CTD_human
HgeneATF6C0155018Color Blindness, Acquired1CTD_human
HgeneATF6C0239777Color Blindness, Green1CTD_human
HgeneATF6C0242225Color blindness1CTD_human
HgeneATF6C0376329New Variant Creutzfeldt-Jakob Disease1CTD_human
HgeneATF6C0700501Congenital nystagmus1CTD_human
HgeneATF6C0751042Color Blindness, Inherited1CTD_human
HgeneATF6C0751043Monochromatopsia1CTD_human
HgeneATF6C0751254Creutzfeldt-Jakob Disease, Familial1CTD_human
HgeneATF6C2930617Pulmonary Fibrosis - from Asbestos Exposure1CTD_human
HgeneATF6C3489532Cone-Rod Dystrophy 21ORPHANET
TgeneSTX6C0038868Progressive supranuclear palsy1CTD_human
TgeneSTX6C1866282CEROID LIPOFUSCINOSIS, NEURONAL, 61CTD_human
TgeneSTX6C4551862Ophthalmoplegia, Progressive Supranuclear1CTD_human
TgeneSTX6C4551863Supranuclear Palsy, Progressive, 11CTD_human