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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:ATRX-ABCB7 (FusionGDB2 ID:HG546TG22)

Fusion Gene Summary for ATRX-ABCB7

check button Fusion gene summary
Fusion gene informationFusion gene name: ATRX-ABCB7
Fusion gene ID: hg546tg22
HgeneTgene
Gene symbol

ATRX

ABCB7

Gene ID

546

22

Gene nameATRX chromatin remodelerATP binding cassette subfamily B member 7
SynonymsJMS|MRX52|RAD54|RAD54L|XH2|XNP|ZNF-HXABC7|ASAT|Atm1p|EST140535
Cytomap('ATRX')('ABCB7')

Xq21.1

Xq13.3

Type of geneprotein-codingprotein-coding
Descriptiontranscriptional regulator ATRXATP-dependent helicase ATRXX-linked helicase IIX-linked nuclear proteinalpha thalassemia/mental retardation syndrome X-linked (RAD54 homolog, S. cerevisiae)ATP-binding cassette sub-family B member 7, mitochondrialABC transporter 7 proteinATP-binding cassette transporter 7ATP-binding cassette, sub-family B (MDR/TAP), member 7
Modification date2020031320200320
UniProtAcc..
Ensembl transtripts involved in fusion geneENST00000373344, ENST00000395603, 
ENST00000480283, ENST00000373341, 
Fusion gene scores* DoF score17 X 13 X 9=19894 X 5 X 4=80
# samples 234
** MAII scorelog2(23/1989*10)=-3.11233750988937
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(4/80*10)=-1
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: ATRX [Title/Abstract] AND ABCB7 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointATRX(77041332)-ABCB7(74318897), # samples:1
ATRX(77041468)-ABCB7(74334669), # samples:1
Anticipated loss of major functional domain due to fusion event.ATRX-ABCB7 seems lost the major protein functional domain in Hgene partner, which is a CGC by not retaining the major functional domain in the partially deleted in-frame ORF.
ATRX-ABCB7 seems lost the major protein functional domain in Hgene partner, which is a CGC by not retaining the major functional domain in the partially deleted in-frame ORF.
ATRX-ABCB7 seems lost the major protein functional domain in Hgene partner, which is a essential gene by not retaining the major functional domain in the partially deleted in-frame ORF.
ATRX-ABCB7 seems lost the major protein functional domain in Hgene partner, which is a essential gene by not retaining the major functional domain in the partially deleted in-frame ORF.
* 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
HgeneATRX

GO:0006334

nucleosome assembly

20651253

HgeneATRX

GO:0006338

chromatin remodeling

20651253


check buttonFusion gene breakpoints across ATRX (5'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.
all structure
check buttonFusion gene breakpoints across ABCB7 (3'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.
all structure

check button Fusion gene information
* 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
ChimerDB4SARCTCGA-HB-A3YV-01AATRXchrX

77041332

-ABCB7chrX

74318897

-
ChimerDB4SARCTCGA-HB-A3YV-01AATRXchrX

77041468

-ABCB7chrX

74334669

-


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Fusion Gene ORF analysis for ATRX-ABCB7

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
5CDS-intronENST00000373344ENST00000534570ATRXchrX

77041468

-ABCB7chrX

74334669

-
5CDS-intronENST00000395603ENST00000534570ATRXchrX

77041468

-ABCB7chrX

74334669

-
5UTR-3CDSENST00000480283ENST00000253577ATRXchrX

77041468

-ABCB7chrX

74334669

-
5UTR-3CDSENST00000480283ENST00000339447ATRXchrX

77041468

-ABCB7chrX

74334669

-
5UTR-3CDSENST00000480283ENST00000373394ATRXchrX

77041468

-ABCB7chrX

74334669

-
5UTR-intronENST00000480283ENST00000534570ATRXchrX

77041468

-ABCB7chrX

74334669

-
In-frameENST00000373344ENST00000253577ATRXchrX

77041468

-ABCB7chrX

74334669

-
In-frameENST00000373344ENST00000339447ATRXchrX

77041468

-ABCB7chrX

74334669

-
In-frameENST00000373344ENST00000373394ATRXchrX

77041468

-ABCB7chrX

74334669

-
In-frameENST00000395603ENST00000253577ATRXchrX

77041468

-ABCB7chrX

74334669

-
In-frameENST00000395603ENST00000339447ATRXchrX

77041468

-ABCB7chrX

74334669

-
In-frameENST00000395603ENST00000373394ATRXchrX

77041468

-ABCB7chrX

74334669

-
intron-3CDSENST00000373341ENST00000253577ATRXchrX

77041332

-ABCB7chrX

74318897

-
intron-3CDSENST00000373341ENST00000253577ATRXchrX

77041468

-ABCB7chrX

74334669

-
intron-3CDSENST00000373341ENST00000339447ATRXchrX

77041468

-ABCB7chrX

74334669

-
intron-3CDSENST00000373341ENST00000373394ATRXchrX

77041468

-ABCB7chrX

74334669

-
intron-3CDSENST00000373344ENST00000253577ATRXchrX

77041332

-ABCB7chrX

74318897

-
intron-3CDSENST00000395603ENST00000253577ATRXchrX

77041332

-ABCB7chrX

74318897

-
intron-3CDSENST00000480283ENST00000253577ATRXchrX

77041332

-ABCB7chrX

74318897

-
intron-intronENST00000373341ENST00000339447ATRXchrX

77041332

-ABCB7chrX

74318897

-
intron-intronENST00000373341ENST00000373394ATRXchrX

77041332

-ABCB7chrX

74318897

-
intron-intronENST00000373341ENST00000534570ATRXchrX

77041332

-ABCB7chrX

74318897

-
intron-intronENST00000373341ENST00000534570ATRXchrX

77041468

-ABCB7chrX

74334669

-
intron-intronENST00000373344ENST00000339447ATRXchrX

77041332

-ABCB7chrX

74318897

-
intron-intronENST00000373344ENST00000373394ATRXchrX

77041332

-ABCB7chrX

74318897

-
intron-intronENST00000373344ENST00000534570ATRXchrX

77041332

-ABCB7chrX

74318897

-
intron-intronENST00000395603ENST00000339447ATRXchrX

77041332

-ABCB7chrX

74318897

-
intron-intronENST00000395603ENST00000373394ATRXchrX

77041332

-ABCB7chrX

74318897

-
intron-intronENST00000395603ENST00000534570ATRXchrX

77041332

-ABCB7chrX

74318897

-
intron-intronENST00000480283ENST00000339447ATRXchrX

77041332

-ABCB7chrX

74318897

-
intron-intronENST00000480283ENST00000373394ATRXchrX

77041332

-ABCB7chrX

74318897

-
intron-intronENST00000480283ENST00000534570ATRXchrX

77041332

-ABCB7chrX

74318897

-

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)
ENST00000373344ATRXchrX77041468-ENST00000253577ABCB7chrX74334669-24192352742328684
ENST00000373344ATRXchrX77041468-ENST00000339447ABCB7chrX74334669-22942352712205644
ENST00000373344ATRXchrX77041468-ENST00000373394ABCB7chrX74334669-24122352712325684
ENST00000395603ATRXchrX77041468-ENST00000253577ABCB7chrX74334669-24192352742328684
ENST00000395603ATRXchrX77041468-ENST00000339447ABCB7chrX74334669-22942352712205644
ENST00000395603ATRXchrX77041468-ENST00000373394ABCB7chrX74334669-24122352712325684

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
ENST00000373344ENST00000253577ATRXchrX77041468-ABCB7chrX74334669-0.0019241310.99807584
ENST00000373344ENST00000339447ATRXchrX77041468-ABCB7chrX74334669-0.0015171860.9984829
ENST00000373344ENST00000373394ATRXchrX77041468-ABCB7chrX74334669-0.0018799350.99812
ENST00000395603ENST00000253577ATRXchrX77041468-ABCB7chrX74334669-0.0019241310.99807584
ENST00000395603ENST00000339447ATRXchrX77041468-ABCB7chrX74334669-0.0015171860.9984829
ENST00000395603ENST00000373394ATRXchrX77041468-ABCB7chrX74334669-0.0018799350.99812

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Fusion Genomic Features for ATRX-ABCB7


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.
genomic feature

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Fusion Protein Features for ATRX-ABCB7


check button Four levels of functional features of fusion genes
Go to FGviewer search page for the most frequent breakpoint (https://ccsmweb.uth.edu/FGviewer/chrX:77041332/chrX:74318897)
- FGviewer provides the online visualization of the retention search of the protein functional features across DNA, RNA, protein, and pathological levels.
- How to search
1. Put your fusion gene symbol.
2. Press the tab key until there will be shown the breakpoint information filled.
4. Go down and press 'Search' tab twice.
4. Go down to have the hyperlink of the search result.
5. Click the hyperlink.
6. See the FGviewer result for your fusion gene.
FGviewer

check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
..
FUNCTION: Transcriptional activator which is required for calcium-dependent dendritic growth and branching in cortical neurons. Recruits CREB-binding protein (CREBBP) to nuclear bodies. Component of the CREST-BRG1 complex, a multiprotein complex that regulates promoter activation by orchestrating a calcium-dependent release of a repressor complex and a recruitment of an activator complex. In resting neurons, transcription of the c-FOS promoter is inhibited by BRG1-dependent recruitment of a phospho-RB1-HDAC1 repressor complex. Upon calcium influx, RB1 is dephosphorylated by calcineurin, which leads to release of the repressor complex. At the same time, there is increased recruitment of CREBBP to the promoter by a CREST-dependent mechanism, which leads to transcriptional activation. The CREST-BRG1 complex also binds to the NR2B promoter, and activity-dependent induction of NR2B expression involves a release of HDAC1 and recruitment of CREBBP (By similarity). {ECO:0000250}.FUNCTION: Transcriptional activator which is required for calcium-dependent dendritic growth and branching in cortical neurons. Recruits CREB-binding protein (CREBBP) to nuclear bodies. Component of the CREST-BRG1 complex, a multiprotein complex that regulates promoter activation by orchestrating a calcium-dependent release of a repressor complex and a recruitment of an activator complex. In resting neurons, transcription of the c-FOS promoter is inhibited by BRG1-dependent recruitment of a phospho-RB1-HDAC1 repressor complex. Upon calcium influx, RB1 is dephosphorylated by calcineurin, which leads to release of the repressor complex. At the same time, there is increased recruitment of CREBBP to the promoter by a CREST-dependent mechanism, which leads to transcriptional activation. The CREST-BRG1 complex also binds to the NR2B promoter, and activity-dependent induction of NR2B expression involves a release of HDAC1 and recruitment of CREBBP (By similarity). {ECO:0000250}.

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
TgeneABCB7chrX:77041468chrX:74334669ENST00000253577016140_43656754.0DomainABC transmembrane type-1
TgeneABCB7chrX:77041468chrX:74334669ENST00000253577016472_70656754.0DomainABC transporter
TgeneABCB7chrX:77041468chrX:74334669ENST00000373394016140_43656753.0DomainABC transmembrane type-1
TgeneABCB7chrX:77041468chrX:74334669ENST00000373394016472_70656753.0DomainABC transporter
TgeneABCB7chrX:77041468chrX:74334669ENST00000253577016505_51656754.0Nucleotide bindingATP
TgeneABCB7chrX:77041468chrX:74334669ENST00000373394016505_51656753.0Nucleotide bindingATP
TgeneABCB7chrX:77041468chrX:74334669ENST00000253577016141_16156754.0TransmembraneHelical
TgeneABCB7chrX:77041468chrX:74334669ENST00000253577016186_20656754.0TransmembraneHelical
TgeneABCB7chrX:77041468chrX:74334669ENST00000253577016260_28056754.0TransmembraneHelical
TgeneABCB7chrX:77041468chrX:74334669ENST00000253577016291_31156754.0TransmembraneHelical
TgeneABCB7chrX:77041468chrX:74334669ENST00000253577016383_40356754.0TransmembraneHelical
TgeneABCB7chrX:77041468chrX:74334669ENST00000253577016410_43056754.0TransmembraneHelical
TgeneABCB7chrX:77041468chrX:74334669ENST00000373394016141_16156753.0TransmembraneHelical
TgeneABCB7chrX:77041468chrX:74334669ENST00000373394016186_20656753.0TransmembraneHelical
TgeneABCB7chrX:77041468chrX:74334669ENST00000373394016260_28056753.0TransmembraneHelical
TgeneABCB7chrX:77041468chrX:74334669ENST00000373394016291_31156753.0TransmembraneHelical
TgeneABCB7chrX:77041468chrX:74334669ENST00000373394016383_40356753.0TransmembraneHelical
TgeneABCB7chrX:77041468chrX:74334669ENST00000373394016410_43056753.0TransmembraneHelical

- In-frame and not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgeneATRXchrX:77041468chrX:74334669ENST00000373344-1351151_115662493.0Compositional biasNote=Poly-Ser
HgeneATRXchrX:77041468chrX:74334669ENST00000373344-1351166_116962493.0Compositional biasNote=Poly-Lys
HgeneATRXchrX:77041468chrX:74334669ENST00000373344-1351202_120662493.0Compositional biasNote=Poly-Ser
HgeneATRXchrX:77041468chrX:74334669ENST00000373344-1351259_126662493.0Compositional biasNote=Poly-Asp
HgeneATRXchrX:77041468chrX:74334669ENST00000373344-1351443_146662493.0Compositional biasNote=Poly-Glu
HgeneATRXchrX:77041468chrX:74334669ENST00000373344-1351499_150262493.0Compositional biasNote=Poly-Glu
HgeneATRXchrX:77041468chrX:74334669ENST00000373344-1351929_193962493.0Compositional biasNote=Poly-Lys
HgeneATRXchrX:77041468chrX:74334669ENST00000373344-1351941_194862493.0Compositional biasNote=Poly-Ser
HgeneATRXchrX:77041468chrX:74334669ENST00000373344-1352222_222562493.0Compositional biasNote=Poly-Lys
HgeneATRXchrX:77041468chrX:74334669ENST00000373344-1352262_226562493.0Compositional biasNote=Poly-Glu
HgeneATRXchrX:77041468chrX:74334669ENST00000373344-1352420_242562493.0Compositional biasNote=Poly-Gln
HgeneATRXchrX:77041468chrX:74334669ENST00000373344-135745_75062493.0Compositional biasNote=Poly-Ser
HgeneATRXchrX:77041468chrX:74334669ENST00000395603-1341151_115662455.0Compositional biasNote=Poly-Ser
HgeneATRXchrX:77041468chrX:74334669ENST00000395603-1341166_116962455.0Compositional biasNote=Poly-Lys
HgeneATRXchrX:77041468chrX:74334669ENST00000395603-1341202_120662455.0Compositional biasNote=Poly-Ser
HgeneATRXchrX:77041468chrX:74334669ENST00000395603-1341259_126662455.0Compositional biasNote=Poly-Asp
HgeneATRXchrX:77041468chrX:74334669ENST00000395603-1341443_146662455.0Compositional biasNote=Poly-Glu
HgeneATRXchrX:77041468chrX:74334669ENST00000395603-1341499_150262455.0Compositional biasNote=Poly-Glu
HgeneATRXchrX:77041468chrX:74334669ENST00000395603-1341929_193962455.0Compositional biasNote=Poly-Lys
HgeneATRXchrX:77041468chrX:74334669ENST00000395603-1341941_194862455.0Compositional biasNote=Poly-Ser
HgeneATRXchrX:77041468chrX:74334669ENST00000395603-1342222_222562455.0Compositional biasNote=Poly-Lys
HgeneATRXchrX:77041468chrX:74334669ENST00000395603-1342262_226562455.0Compositional biasNote=Poly-Glu
HgeneATRXchrX:77041468chrX:74334669ENST00000395603-1342420_242562455.0Compositional biasNote=Poly-Gln
HgeneATRXchrX:77041468chrX:74334669ENST00000395603-134745_75062455.0Compositional biasNote=Poly-Ser
HgeneATRXchrX:77041468chrX:74334669ENST00000373344-1351581_176862493.0DomainHelicase ATP-binding
HgeneATRXchrX:77041468chrX:74334669ENST00000373344-135159_29662493.0DomainADD
HgeneATRXchrX:77041468chrX:74334669ENST00000373344-1352025_220562493.0DomainHelicase C-terminal
HgeneATRXchrX:77041468chrX:74334669ENST00000395603-1341581_176862455.0DomainHelicase ATP-binding
HgeneATRXchrX:77041468chrX:74334669ENST00000395603-134159_29662455.0DomainADD
HgeneATRXchrX:77041468chrX:74334669ENST00000395603-1342025_220562455.0DomainHelicase C-terminal
HgeneATRXchrX:77041468chrX:74334669ENST00000373344-1351719_172262493.0MotifNote=DEGH box
HgeneATRXchrX:77041468chrX:74334669ENST00000373344-135581_59462493.0MotifNote=PxVxL motif
HgeneATRXchrX:77041468chrX:74334669ENST00000395603-1341719_172262455.0MotifNote=DEGH box
HgeneATRXchrX:77041468chrX:74334669ENST00000395603-134581_59462455.0MotifNote=PxVxL motif
HgeneATRXchrX:77041468chrX:74334669ENST00000373344-1351594_160162493.0Nucleotide bindingATP
HgeneATRXchrX:77041468chrX:74334669ENST00000395603-1341594_160162455.0Nucleotide bindingATP
HgeneATRXchrX:77041468chrX:74334669ENST00000373344-135170_20662493.0Zinc fingerGATA-type%3B atypical
HgeneATRXchrX:77041468chrX:74334669ENST00000373344-135217_27262493.0Zinc fingerPHD-type%3B atypical
HgeneATRXchrX:77041468chrX:74334669ENST00000395603-134170_20662455.0Zinc fingerGATA-type%3B atypical
HgeneATRXchrX:77041468chrX:74334669ENST00000395603-134217_27262455.0Zinc fingerPHD-type%3B atypical


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Fusion Gene Sequence for ATRX-ABCB7


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.
>8343_8343_1_ATRX-ABCB7_ATRX_chrX_77041468_ENST00000373344_ABCB7_chrX_74334669_ENST00000253577_length(transcript)=2419nt_BP=235nt
CTCGGCCCAACAAAATGGCGGCGGCAGCGGTGTCGCTTTGTTTCCGCGGCTCCTGCGGCGGTGGCAGTGGTAGCGGCCTTTGAGCTGTGG
GGAGGTTCCAGCAGCAGCTACAGTGACGACTAAGACTCCAGTGCATTTCTATCGTAACCGGGCGCGGGGGAGCGCAGATCGGCGCCCAGC
AATCACAGAAGCCGACAAGGCGTTCAAGCGAAAACATGACCGCTGAGCCCATGAGCAGATTCCAGAGTCATTAAAAAGTATCACATGGCA
GAGATTGGGAAAAGGCAATTCAGGACAGTTCTTAGATGCTGCAAAGGCTCTCCAGGTATGGCCACTGATAGAAAAGAGGACATGTTGGCA
TGGTCATGCAGGAGGAGGACTCCACACAGACCCAAAAGAAGGGTTAAAAGATGTTGATACTCGGAAAATCATAAAAGCAATGCTTTCTTA
TGTGTGGCCCAAAGACAGGCCAGATCTACGAGCTAGAGTTGCCATTTCGCTGGGATTTTTGGGTGGTGCAAAGGCCATGAATATTGTGGT
TCCCTTCATGTTTAAATATGCTGTAGACAGCCTCAACCAGATGTCGGGAAACATGCTGAACCTGAGTGATGCACCAAATACAGTTGCAAC
CATGGCAACAGCAGTTCTGATTGGCTATGGTGTATCAAGAGCTGGAGCTGCTTTTTTTAACGAAGTTCGAAATGCAGTATTTGGCAAGGT
AGCCCAGAATTCAATCCGAAGAATAGCCAAAAATGTCTTTCTCCATCTTCACAACCTGGATCTGGGTTTTCACCTGAGCAGACAGACGGG
AGCTTTATCTAAGGCTATTGACAGAGGAACAAGGGGTATCAGTTTTGTCCTGAGTGCTTTGGTATTTAATCTTCTTCCCATCATGTTTGA
AGTGATGCTTGTCAGTGGTGTTTTGTATTACAAATGCGGTGCCCAGTTTGCTTTGGTAACCCTTGGAACACTTGGTACATACACAGCATT
CACAGTTGCAGTCACACGGTGGAGAACTAGATTTAGAATAGAAATGAACAAAGCAGATAATGATGCAGGTAATGCTGCTATAGACTCACT
GCTGAATTATGAAACTGTGAAGTATTTTAATAATGAAAGATATGAAGCACAGAGATATGATGGATTTTTGAAGACGTATGAGACTGCTTC
ATTGAAAAGTACCTCTACTCTGGCTATGCTGAACTTTGGTCAAAGTGCTATTTTCAGTGTCGGTTTAACAGCTATAATGGTGCTCGCCAG
TCAGGGAATTGTGGCAGGTACCCTTACTGTTGGAGATCTAGTAATGGTGAATGGACTGCTTTTTCAGCTTTCATTACCCCTGAACTTTCT
GGGAACTGTATATAGAGAGACTAGACAAGCACTCATAGATATGAACACCTTGTTTACTCTACTCAAGGTAGACACCCAAATTAAAGACAA
AGTGATGGCATCTCCCCTTCAGATCACACCACAGACAGCTACCGTGGCCTTTGATAATGTGCATTTTGAATACATTGAGGGCCAGAAAGT
CCTTAGTGGAATATCCTTTGAAGTCCCTGCAGGAAAGAAAGTGGCCATTGTAGGAGGTAGTGGGTCAGGGAAAAGCACAATAGTGAGGCT
ATTATTTCGCTTCTATGAGCCTCAAAAGGGTAGCATTTATCTTGCTGGTCAAAATATACAAGATGTGAGCCTGGAAAGCCTTCGGAGGGC
AGTGGGAGTGGTACCTCAGGATGCTGTCCTCTTCCATAATACTATTTATTACAACCTCTTATATGGAAACATCAGTGCTTCACCTGAGGA
AGTGTATGCAGTGGCAAAATTAGCTGGACTTCATGATGCAATTCTTCGAATGCCACATGGATATGACACCCAAGTAGGGGAACGAGGACT
CAAGCTTTCAGGAGGAGAAAAGCAAAGAGTAGCAATTGCAAGAGCCATTTTGAAGGACCCCCCAGTCATACTCTATGATGAAGCTACTTC
ATCGTTAGATTCGATTACTGAAGAGACTATTCTTGGTGCCATGAAGGATGTGGTCAAACACAGAACTTCTATTTTCATTGCACACAGATT
GTCAACAGTGGTTGATGCAGATGAAATCATTGTCTTGGATCAGGGTAAGGTAGCCGAACGTGGTACCCACCATGGTTTGCTTGCTAACCC
TCATAGTATCTATTCAGAAATGTGGCATACACAGAGCAGCCGTGTGCAGAACCATGATAACCCCAAATGGGAAGCAAAGAAAGAAAATAT
ATCCAAAGAGGAGGAAAGAAAGAAACTACAAGAAGAAATTGTCAATAGTGTGAAAGGCTGTGGAAACTGTTCGTGCTAAGTCACATAAGA

>8343_8343_1_ATRX-ABCB7_ATRX_chrX_77041468_ENST00000373344_ABCB7_chrX_74334669_ENST00000253577_length(amino acids)=684AA_BP=
MGKGNSGQFLDAAKALQVWPLIEKRTCWHGHAGGGLHTDPKEGLKDVDTRKIIKAMLSYVWPKDRPDLRARVAISLGFLGGAKAMNIVVP
FMFKYAVDSLNQMSGNMLNLSDAPNTVATMATAVLIGYGVSRAGAAFFNEVRNAVFGKVAQNSIRRIAKNVFLHLHNLDLGFHLSRQTGA
LSKAIDRGTRGISFVLSALVFNLLPIMFEVMLVSGVLYYKCGAQFALVTLGTLGTYTAFTVAVTRWRTRFRIEMNKADNDAGNAAIDSLL
NYETVKYFNNERYEAQRYDGFLKTYETASLKSTSTLAMLNFGQSAIFSVGLTAIMVLASQGIVAGTLTVGDLVMVNGLLFQLSLPLNFLG
TVYRETRQALIDMNTLFTLLKVDTQIKDKVMASPLQITPQTATVAFDNVHFEYIEGQKVLSGISFEVPAGKKVAIVGGSGSGKSTIVRLL
FRFYEPQKGSIYLAGQNIQDVSLESLRRAVGVVPQDAVLFHNTIYYNLLYGNISASPEEVYAVAKLAGLHDAILRMPHGYDTQVGERGLK
LSGGEKQRVAIARAILKDPPVILYDEATSSLDSITEETILGAMKDVVKHRTSIFIAHRLSTVVDADEIIVLDQGKVAERGTHHGLLANPH

--------------------------------------------------------------
>8343_8343_2_ATRX-ABCB7_ATRX_chrX_77041468_ENST00000373344_ABCB7_chrX_74334669_ENST00000339447_length(transcript)=2294nt_BP=235nt
CTCGGCCCAACAAAATGGCGGCGGCAGCGGTGTCGCTTTGTTTCCGCGGCTCCTGCGGCGGTGGCAGTGGTAGCGGCCTTTGAGCTGTGG
GGAGGTTCCAGCAGCAGCTACAGTGACGACTAAGACTCCAGTGCATTTCTATCGTAACCGGGCGCGGGGGAGCGCAGATCGGCGCCCAGC
AATCACAGAAGCCGACAAGGCGTTCAAGCGAAAACATGACCGCTGAGCCCATGAGATTCCAGAGTCATTAAAAAGTATCACATGGCAGAG
ATTGGGAAAAGGCAATTCAGGACAGTTCTTAGATGCTGCAAAGGCTCTCCAGGTATGGCCACTGATAGAAAAGAGGACATGTTGGCATGG
TCATGCAGGAGGAGGACTCCACACAGACCCAAAAGAAGGGGCCATGAATATTGTGGTTCCCTTCATGTTTAAATATGCTGTAGACAGCCT
CAACCAGATGTCGGGAAACATGCTGAACCTGAGTGATGCACCAAATACAGTTGCAACCATGGCAACAGCAGTTCTGATTGGCTATGGTGT
ATCAAGAGCTGGAGCTGCTTTTTTTAACGAAGTTCGAAATGCAGTATTTGGCAAGGTAGCCCAGAATTCAATCCGAAGAATAGCCAAAAA
TGTCTTTCTCCATCTTCACAACCTGGATCTGGGTTTTCACCTGAGCAGACAGACGGGAGCTTTATCTAAGGCTATTGACAGAGGAACAAG
GGGTATCAGTTTTGTCCTGAGTGCTTTGGTATTTAATCTTCTTCCCATCATGTTTGAAGTGATGCTTGTCAGTGGTGTTTTGTATTACAA
ATGCGGTGCCCAGTTTGCTTTGGTAACCCTTGGAACACTTGGTACATACACAGCATTCACAGTTGCAGTCACACGGTGGAGAACTAGATT
TAGAATAGAAATGAACAAAGCAGATAATGATGCAGGTAATGCTGCTATAGACTCACTGCTGAATTATGAAACTGTGAAGTATTTTAATAA
TGAAAGATATGAAGCACAGAGATATGATGGATTTTTGAAGACGTATGAGACTGCTTCATTGAAAAGTACCTCTACTCTGGCTATGCTGAA
CTTTGGTCAAAGTGCTATTTTCAGTGTCGGTTTAACAGCTATAATGGTGCTCGCCAGTCAGGGAATTGTGGCAGGTACCCTTACTGTTGG
AGATCTAGTAATGGTGAATGGACTGCTTTTTCAGCTTTCATTACCCCTGAACTTTCTGGGAACTGTATATAGAGAGACTAGACAAGCACT
CATAGATATGAACACCTTGTTTACTCTACTCAAGGTAGACACCCAAATTAAAGACAAAGTGATGGCATCTCCCCTTCAGATCACACCACA
GACAGCTACCGTGGCCTTTGATAATGTGCATTTTGAATACATTGAGGGCCAGAAAGTCCTTAGTGGAATATCCTTTGAAGTCCCTGCAGG
AAAGAAAGTGGCCATTGTAGGAGGTAGTGGGTCAGGGAAAAGCACAATAGTGAGGCTATTATTTCGCTTCTATGAGCCTCAAAAGGGTAG
CATTTATCTTGCTGGTCAAAATATACAAGATGTGAGCCTGGAAAGCCTTCGGAGGGCAGTGGGAGTGGTACCTCAGGATGCTGTCCTCTT
CCATAATACTATTTATTACAACCTCTTATATGGAAACATCAGTGCTTCACCTGAGGAAGTGTATGCAGTGGCAAAATTAGCTGGACTTCA
TGATGCAATTCTTCGAATGCCACATGGATATGACACCCAAGTAGGGGAACGAGGACTCAAGCTTTCAGGAGGAGAAAAGCAAAGAGTAGC
AATTGCAAGAGCCATTTTGAAGGACCCCCCAGTCATACTCTATGATGAAGCTACTTCATCGTTAGATTCGATTACTGAAGAGACTATTCT
TGGTGCCATGAAGGATGTGGTCAAACACAGAACTTCTATTTTCATTGCACACAGATTGTCAACAGTGGTTGATGCAGATGAAATCATTGT
CTTGGATCAGGGTAAGGTAGCCGAACGTGGTACCCACCATGGTTTGCTTGCTAACCCTCATAGTATCTATTCAGAAATGTGGCATACACA
GAGCAGCCGTGTGCAGAACCATGATAACCCCAAATGGGAAGCAAAGAAAGAAAATATATCCAAAGAGGAGGAAAGAAAGAAACTACAAGA
AGAAATTGTCAATAGTGTGAAAGGCTGTGGAAACTGTTCGTGCTAAGTCACATAAGACATTTTCTTTTTTTGTTGTTTTGGACTACATAT

>8343_8343_2_ATRX-ABCB7_ATRX_chrX_77041468_ENST00000373344_ABCB7_chrX_74334669_ENST00000339447_length(amino acids)=644AA_BP=
MGKGNSGQFLDAAKALQVWPLIEKRTCWHGHAGGGLHTDPKEGAMNIVVPFMFKYAVDSLNQMSGNMLNLSDAPNTVATMATAVLIGYGV
SRAGAAFFNEVRNAVFGKVAQNSIRRIAKNVFLHLHNLDLGFHLSRQTGALSKAIDRGTRGISFVLSALVFNLLPIMFEVMLVSGVLYYK
CGAQFALVTLGTLGTYTAFTVAVTRWRTRFRIEMNKADNDAGNAAIDSLLNYETVKYFNNERYEAQRYDGFLKTYETASLKSTSTLAMLN
FGQSAIFSVGLTAIMVLASQGIVAGTLTVGDLVMVNGLLFQLSLPLNFLGTVYRETRQALIDMNTLFTLLKVDTQIKDKVMASPLQITPQ
TATVAFDNVHFEYIEGQKVLSGISFEVPAGKKVAIVGGSGSGKSTIVRLLFRFYEPQKGSIYLAGQNIQDVSLESLRRAVGVVPQDAVLF
HNTIYYNLLYGNISASPEEVYAVAKLAGLHDAILRMPHGYDTQVGERGLKLSGGEKQRVAIARAILKDPPVILYDEATSSLDSITEETIL
GAMKDVVKHRTSIFIAHRLSTVVDADEIIVLDQGKVAERGTHHGLLANPHSIYSEMWHTQSSRVQNHDNPKWEAKKENISKEEERKKLQE

--------------------------------------------------------------
>8343_8343_3_ATRX-ABCB7_ATRX_chrX_77041468_ENST00000373344_ABCB7_chrX_74334669_ENST00000373394_length(transcript)=2412nt_BP=235nt
CTCGGCCCAACAAAATGGCGGCGGCAGCGGTGTCGCTTTGTTTCCGCGGCTCCTGCGGCGGTGGCAGTGGTAGCGGCCTTTGAGCTGTGG
GGAGGTTCCAGCAGCAGCTACAGTGACGACTAAGACTCCAGTGCATTTCTATCGTAACCGGGCGCGGGGGAGCGCAGATCGGCGCCCAGC
AATCACAGAAGCCGACAAGGCGTTCAAGCGAAAACATGACCGCTGAGCCCATGAGATTCCAGAGTCATTAAAAAGTATCACATGGCAGAG
ATTGGGAAAAGGCAATTCAGGACAGTTCTTAGATGCTGCAAAGGCTCTCCAGGTATGGCCACTGATAGAAAAGAGGACATGTTGGCATGG
TCATGCAGGAGGAGGACTCCACACAGACCCAAAAGAAGGGTTAAAAGATGTTGATACTCGGAAAATCATAAAAGCAATGCTTTCTTATGT
GTGGCCCAAAGACAGGCCAGATCTACGAGCTAGAGTTGCCATTTCGCTGGGATTTTTGGGTGGTGCAAAGGCCATGAATATTGTGGTTCC
CTTCATGTTTAAATATGCTGTAGACAGCCTCAACCAGATGTCGGGAAACATGCTGAACCTGAGTGATGCACCAAATACAGTTGCAACCAT
GGCAACAGCAGTTCTGATTGGCTATGGTGTATCAAGAGCTGGAGCTGCTTTTTTTAACGAAGTTCGAAATGCAGTATTTGGCAAGGTAGC
CCAGAATTCAATCCGAAGAATAGCCAAAAATGTCTTTCTCCATCTTCACAACCTGGATCTGGGTTTTCACCTGAGCAGACAGACGGGAGC
TTTATCTAAGGCTATTGACAGAGGAACAAGGGGTATCAGTTTTGTCCTGAGTGCTTTGGTATTTAATCTTCTTCCCATCATGTTTGAAGT
GATGCTTGTCAGTGGTGTTTTGTATTACAAATGCGGTGCCCAGTTTGCTTTGGTAACCCTTGGAACACTTGGTACATACACAGCATTCAC
AGTTGCAGTCACACGGTGGAGAACTAGATTTAGAATAGAAATGAACAAAGCAGATAATGATGCAGGTAATGCTGCTATAGACTCACTGCT
GAATTATGAAACTGTGAAGTATTTTAATAATGAAAGATATGAAGCACAGAGATATGATGGATTTTTGAAGACGTATGAGACTGCTTCATT
GAAAAGTACCTCTACTCTGGCTATGCTGAACTTTGGTCAAAGTGCTATTTTCAGTGTCGGTTTAACAGCTATAATGGTGCTCGCCAGTCA
GGGAATTGTGGCAGGTACCCTTACTGTTGGAGATCTAGTAATGGTGAATGGACTGCTTTTTCAGCTTTCATTACCCCTGAACTTTCTGGG
AACTGTATATAGAGAGACTAGACAAGCACTCATAGATATGAACACCTTGTTTACTCTACTCAAGGTAGACACCCAAATTAAAGACAAAGT
GATGGCATCTCCCCTTCAGATCACACCACAGACAGCTACCGTGGCCTTTGATAATGTGCATTTTGAATACATTGAGGGCCAGAAAGTCCT
TAGTGGAATATCCTTTGAAGTCCCTGCAGGAAAGAAAGTGGCCATTGTAGGAGGTAGTGGGTCAGGGAAAAGCACAATAGTGAGGCTATT
ATTTCGCTTCTATGAGCCTCAAAAGGGTAGCATTTATCTTGCTGGTCAAAATATACAAGATGTGAGCCTGGAAAGCCTTCGGAGGGCAGT
GGGAGTGGTACCTCAGGATGCTGTCCTCTTCCATAATACTATTTATTACAACCTCTTATATGGAAACATCAGTGCTTCACCTGAGGAAGT
GTATGCAGTGGCAAAATTAGCTGGACTTCATGATGCAATTCTTCGAATGCCACATGGATATGACACCCAAGTAGGGGAACGAGGACTCAA
GCTTTCAGGAGGAGAAAAGCAAAGAGTAGCAATTGCAAGAGCCATTTTGAAGGACCCCCCAGTCATACTCTATGATGAAGCTACTTCATC
GTTAGATTCGATTACTGAAGAGACTATTCTTGGTGCCATGAAGGATGTGGTCAAACACAGAACTTCTATTTTCATTGCACACAGATTGTC
AACAGTGGTTGATGCAGATGAAATCATTGTCTTGGATCAGGGTAAGGTAGCCGAACGTGGTACCCACCATGGTTTGCTTGCTAACCCTCA
TAGTATCTATTCAGAAATGTGGCATACACAGAGCAGCCGTGTGCAGAACCATGATAACCCCAAATGGGAAGCAAAGAAAGAAAATATATC
CAAAGAGGAGGAAAGAAAGAAACTACAAGAAGAAATTGTCAATAGTGTGAAAGGCTGTGGAAACTGTTCGTGCTAAGTCACATAAGACAT

>8343_8343_3_ATRX-ABCB7_ATRX_chrX_77041468_ENST00000373344_ABCB7_chrX_74334669_ENST00000373394_length(amino acids)=684AA_BP=
MGKGNSGQFLDAAKALQVWPLIEKRTCWHGHAGGGLHTDPKEGLKDVDTRKIIKAMLSYVWPKDRPDLRARVAISLGFLGGAKAMNIVVP
FMFKYAVDSLNQMSGNMLNLSDAPNTVATMATAVLIGYGVSRAGAAFFNEVRNAVFGKVAQNSIRRIAKNVFLHLHNLDLGFHLSRQTGA
LSKAIDRGTRGISFVLSALVFNLLPIMFEVMLVSGVLYYKCGAQFALVTLGTLGTYTAFTVAVTRWRTRFRIEMNKADNDAGNAAIDSLL
NYETVKYFNNERYEAQRYDGFLKTYETASLKSTSTLAMLNFGQSAIFSVGLTAIMVLASQGIVAGTLTVGDLVMVNGLLFQLSLPLNFLG
TVYRETRQALIDMNTLFTLLKVDTQIKDKVMASPLQITPQTATVAFDNVHFEYIEGQKVLSGISFEVPAGKKVAIVGGSGSGKSTIVRLL
FRFYEPQKGSIYLAGQNIQDVSLESLRRAVGVVPQDAVLFHNTIYYNLLYGNISASPEEVYAVAKLAGLHDAILRMPHGYDTQVGERGLK
LSGGEKQRVAIARAILKDPPVILYDEATSSLDSITEETILGAMKDVVKHRTSIFIAHRLSTVVDADEIIVLDQGKVAERGTHHGLLANPH

--------------------------------------------------------------
>8343_8343_4_ATRX-ABCB7_ATRX_chrX_77041468_ENST00000395603_ABCB7_chrX_74334669_ENST00000253577_length(transcript)=2419nt_BP=235nt
CTCGGCCCAACAAAATGGCGGCGGCAGCGGTGTCGCTTTGTTTCCGCGGCTCCTGCGGCGGTGGCAGTGGTAGCGGCCTTTGAGCTGTGG
GGAGGTTCCAGCAGCAGCTACAGTGACGACTAAGACTCCAGTGCATTTCTATCGTAACCGGGCGCGGGGGAGCGCAGATCGGCGCCCAGC
AATCACAGAAGCCGACAAGGCGTTCAAGCGAAAACATGACCGCTGAGCCCATGAGCAGATTCCAGAGTCATTAAAAAGTATCACATGGCA
GAGATTGGGAAAAGGCAATTCAGGACAGTTCTTAGATGCTGCAAAGGCTCTCCAGGTATGGCCACTGATAGAAAAGAGGACATGTTGGCA
TGGTCATGCAGGAGGAGGACTCCACACAGACCCAAAAGAAGGGTTAAAAGATGTTGATACTCGGAAAATCATAAAAGCAATGCTTTCTTA
TGTGTGGCCCAAAGACAGGCCAGATCTACGAGCTAGAGTTGCCATTTCGCTGGGATTTTTGGGTGGTGCAAAGGCCATGAATATTGTGGT
TCCCTTCATGTTTAAATATGCTGTAGACAGCCTCAACCAGATGTCGGGAAACATGCTGAACCTGAGTGATGCACCAAATACAGTTGCAAC
CATGGCAACAGCAGTTCTGATTGGCTATGGTGTATCAAGAGCTGGAGCTGCTTTTTTTAACGAAGTTCGAAATGCAGTATTTGGCAAGGT
AGCCCAGAATTCAATCCGAAGAATAGCCAAAAATGTCTTTCTCCATCTTCACAACCTGGATCTGGGTTTTCACCTGAGCAGACAGACGGG
AGCTTTATCTAAGGCTATTGACAGAGGAACAAGGGGTATCAGTTTTGTCCTGAGTGCTTTGGTATTTAATCTTCTTCCCATCATGTTTGA
AGTGATGCTTGTCAGTGGTGTTTTGTATTACAAATGCGGTGCCCAGTTTGCTTTGGTAACCCTTGGAACACTTGGTACATACACAGCATT
CACAGTTGCAGTCACACGGTGGAGAACTAGATTTAGAATAGAAATGAACAAAGCAGATAATGATGCAGGTAATGCTGCTATAGACTCACT
GCTGAATTATGAAACTGTGAAGTATTTTAATAATGAAAGATATGAAGCACAGAGATATGATGGATTTTTGAAGACGTATGAGACTGCTTC
ATTGAAAAGTACCTCTACTCTGGCTATGCTGAACTTTGGTCAAAGTGCTATTTTCAGTGTCGGTTTAACAGCTATAATGGTGCTCGCCAG
TCAGGGAATTGTGGCAGGTACCCTTACTGTTGGAGATCTAGTAATGGTGAATGGACTGCTTTTTCAGCTTTCATTACCCCTGAACTTTCT
GGGAACTGTATATAGAGAGACTAGACAAGCACTCATAGATATGAACACCTTGTTTACTCTACTCAAGGTAGACACCCAAATTAAAGACAA
AGTGATGGCATCTCCCCTTCAGATCACACCACAGACAGCTACCGTGGCCTTTGATAATGTGCATTTTGAATACATTGAGGGCCAGAAAGT
CCTTAGTGGAATATCCTTTGAAGTCCCTGCAGGAAAGAAAGTGGCCATTGTAGGAGGTAGTGGGTCAGGGAAAAGCACAATAGTGAGGCT
ATTATTTCGCTTCTATGAGCCTCAAAAGGGTAGCATTTATCTTGCTGGTCAAAATATACAAGATGTGAGCCTGGAAAGCCTTCGGAGGGC
AGTGGGAGTGGTACCTCAGGATGCTGTCCTCTTCCATAATACTATTTATTACAACCTCTTATATGGAAACATCAGTGCTTCACCTGAGGA
AGTGTATGCAGTGGCAAAATTAGCTGGACTTCATGATGCAATTCTTCGAATGCCACATGGATATGACACCCAAGTAGGGGAACGAGGACT
CAAGCTTTCAGGAGGAGAAAAGCAAAGAGTAGCAATTGCAAGAGCCATTTTGAAGGACCCCCCAGTCATACTCTATGATGAAGCTACTTC
ATCGTTAGATTCGATTACTGAAGAGACTATTCTTGGTGCCATGAAGGATGTGGTCAAACACAGAACTTCTATTTTCATTGCACACAGATT
GTCAACAGTGGTTGATGCAGATGAAATCATTGTCTTGGATCAGGGTAAGGTAGCCGAACGTGGTACCCACCATGGTTTGCTTGCTAACCC
TCATAGTATCTATTCAGAAATGTGGCATACACAGAGCAGCCGTGTGCAGAACCATGATAACCCCAAATGGGAAGCAAAGAAAGAAAATAT
ATCCAAAGAGGAGGAAAGAAAGAAACTACAAGAAGAAATTGTCAATAGTGTGAAAGGCTGTGGAAACTGTTCGTGCTAAGTCACATAAGA

>8343_8343_4_ATRX-ABCB7_ATRX_chrX_77041468_ENST00000395603_ABCB7_chrX_74334669_ENST00000253577_length(amino acids)=684AA_BP=
MGKGNSGQFLDAAKALQVWPLIEKRTCWHGHAGGGLHTDPKEGLKDVDTRKIIKAMLSYVWPKDRPDLRARVAISLGFLGGAKAMNIVVP
FMFKYAVDSLNQMSGNMLNLSDAPNTVATMATAVLIGYGVSRAGAAFFNEVRNAVFGKVAQNSIRRIAKNVFLHLHNLDLGFHLSRQTGA
LSKAIDRGTRGISFVLSALVFNLLPIMFEVMLVSGVLYYKCGAQFALVTLGTLGTYTAFTVAVTRWRTRFRIEMNKADNDAGNAAIDSLL
NYETVKYFNNERYEAQRYDGFLKTYETASLKSTSTLAMLNFGQSAIFSVGLTAIMVLASQGIVAGTLTVGDLVMVNGLLFQLSLPLNFLG
TVYRETRQALIDMNTLFTLLKVDTQIKDKVMASPLQITPQTATVAFDNVHFEYIEGQKVLSGISFEVPAGKKVAIVGGSGSGKSTIVRLL
FRFYEPQKGSIYLAGQNIQDVSLESLRRAVGVVPQDAVLFHNTIYYNLLYGNISASPEEVYAVAKLAGLHDAILRMPHGYDTQVGERGLK
LSGGEKQRVAIARAILKDPPVILYDEATSSLDSITEETILGAMKDVVKHRTSIFIAHRLSTVVDADEIIVLDQGKVAERGTHHGLLANPH

--------------------------------------------------------------
>8343_8343_5_ATRX-ABCB7_ATRX_chrX_77041468_ENST00000395603_ABCB7_chrX_74334669_ENST00000339447_length(transcript)=2294nt_BP=235nt
CTCGGCCCAACAAAATGGCGGCGGCAGCGGTGTCGCTTTGTTTCCGCGGCTCCTGCGGCGGTGGCAGTGGTAGCGGCCTTTGAGCTGTGG
GGAGGTTCCAGCAGCAGCTACAGTGACGACTAAGACTCCAGTGCATTTCTATCGTAACCGGGCGCGGGGGAGCGCAGATCGGCGCCCAGC
AATCACAGAAGCCGACAAGGCGTTCAAGCGAAAACATGACCGCTGAGCCCATGAGATTCCAGAGTCATTAAAAAGTATCACATGGCAGAG
ATTGGGAAAAGGCAATTCAGGACAGTTCTTAGATGCTGCAAAGGCTCTCCAGGTATGGCCACTGATAGAAAAGAGGACATGTTGGCATGG
TCATGCAGGAGGAGGACTCCACACAGACCCAAAAGAAGGGGCCATGAATATTGTGGTTCCCTTCATGTTTAAATATGCTGTAGACAGCCT
CAACCAGATGTCGGGAAACATGCTGAACCTGAGTGATGCACCAAATACAGTTGCAACCATGGCAACAGCAGTTCTGATTGGCTATGGTGT
ATCAAGAGCTGGAGCTGCTTTTTTTAACGAAGTTCGAAATGCAGTATTTGGCAAGGTAGCCCAGAATTCAATCCGAAGAATAGCCAAAAA
TGTCTTTCTCCATCTTCACAACCTGGATCTGGGTTTTCACCTGAGCAGACAGACGGGAGCTTTATCTAAGGCTATTGACAGAGGAACAAG
GGGTATCAGTTTTGTCCTGAGTGCTTTGGTATTTAATCTTCTTCCCATCATGTTTGAAGTGATGCTTGTCAGTGGTGTTTTGTATTACAA
ATGCGGTGCCCAGTTTGCTTTGGTAACCCTTGGAACACTTGGTACATACACAGCATTCACAGTTGCAGTCACACGGTGGAGAACTAGATT
TAGAATAGAAATGAACAAAGCAGATAATGATGCAGGTAATGCTGCTATAGACTCACTGCTGAATTATGAAACTGTGAAGTATTTTAATAA
TGAAAGATATGAAGCACAGAGATATGATGGATTTTTGAAGACGTATGAGACTGCTTCATTGAAAAGTACCTCTACTCTGGCTATGCTGAA
CTTTGGTCAAAGTGCTATTTTCAGTGTCGGTTTAACAGCTATAATGGTGCTCGCCAGTCAGGGAATTGTGGCAGGTACCCTTACTGTTGG
AGATCTAGTAATGGTGAATGGACTGCTTTTTCAGCTTTCATTACCCCTGAACTTTCTGGGAACTGTATATAGAGAGACTAGACAAGCACT
CATAGATATGAACACCTTGTTTACTCTACTCAAGGTAGACACCCAAATTAAAGACAAAGTGATGGCATCTCCCCTTCAGATCACACCACA
GACAGCTACCGTGGCCTTTGATAATGTGCATTTTGAATACATTGAGGGCCAGAAAGTCCTTAGTGGAATATCCTTTGAAGTCCCTGCAGG
AAAGAAAGTGGCCATTGTAGGAGGTAGTGGGTCAGGGAAAAGCACAATAGTGAGGCTATTATTTCGCTTCTATGAGCCTCAAAAGGGTAG
CATTTATCTTGCTGGTCAAAATATACAAGATGTGAGCCTGGAAAGCCTTCGGAGGGCAGTGGGAGTGGTACCTCAGGATGCTGTCCTCTT
CCATAATACTATTTATTACAACCTCTTATATGGAAACATCAGTGCTTCACCTGAGGAAGTGTATGCAGTGGCAAAATTAGCTGGACTTCA
TGATGCAATTCTTCGAATGCCACATGGATATGACACCCAAGTAGGGGAACGAGGACTCAAGCTTTCAGGAGGAGAAAAGCAAAGAGTAGC
AATTGCAAGAGCCATTTTGAAGGACCCCCCAGTCATACTCTATGATGAAGCTACTTCATCGTTAGATTCGATTACTGAAGAGACTATTCT
TGGTGCCATGAAGGATGTGGTCAAACACAGAACTTCTATTTTCATTGCACACAGATTGTCAACAGTGGTTGATGCAGATGAAATCATTGT
CTTGGATCAGGGTAAGGTAGCCGAACGTGGTACCCACCATGGTTTGCTTGCTAACCCTCATAGTATCTATTCAGAAATGTGGCATACACA
GAGCAGCCGTGTGCAGAACCATGATAACCCCAAATGGGAAGCAAAGAAAGAAAATATATCCAAAGAGGAGGAAAGAAAGAAACTACAAGA
AGAAATTGTCAATAGTGTGAAAGGCTGTGGAAACTGTTCGTGCTAAGTCACATAAGACATTTTCTTTTTTTGTTGTTTTGGACTACATAT

>8343_8343_5_ATRX-ABCB7_ATRX_chrX_77041468_ENST00000395603_ABCB7_chrX_74334669_ENST00000339447_length(amino acids)=644AA_BP=
MGKGNSGQFLDAAKALQVWPLIEKRTCWHGHAGGGLHTDPKEGAMNIVVPFMFKYAVDSLNQMSGNMLNLSDAPNTVATMATAVLIGYGV
SRAGAAFFNEVRNAVFGKVAQNSIRRIAKNVFLHLHNLDLGFHLSRQTGALSKAIDRGTRGISFVLSALVFNLLPIMFEVMLVSGVLYYK
CGAQFALVTLGTLGTYTAFTVAVTRWRTRFRIEMNKADNDAGNAAIDSLLNYETVKYFNNERYEAQRYDGFLKTYETASLKSTSTLAMLN
FGQSAIFSVGLTAIMVLASQGIVAGTLTVGDLVMVNGLLFQLSLPLNFLGTVYRETRQALIDMNTLFTLLKVDTQIKDKVMASPLQITPQ
TATVAFDNVHFEYIEGQKVLSGISFEVPAGKKVAIVGGSGSGKSTIVRLLFRFYEPQKGSIYLAGQNIQDVSLESLRRAVGVVPQDAVLF
HNTIYYNLLYGNISASPEEVYAVAKLAGLHDAILRMPHGYDTQVGERGLKLSGGEKQRVAIARAILKDPPVILYDEATSSLDSITEETIL
GAMKDVVKHRTSIFIAHRLSTVVDADEIIVLDQGKVAERGTHHGLLANPHSIYSEMWHTQSSRVQNHDNPKWEAKKENISKEEERKKLQE

--------------------------------------------------------------
>8343_8343_6_ATRX-ABCB7_ATRX_chrX_77041468_ENST00000395603_ABCB7_chrX_74334669_ENST00000373394_length(transcript)=2412nt_BP=235nt
CTCGGCCCAACAAAATGGCGGCGGCAGCGGTGTCGCTTTGTTTCCGCGGCTCCTGCGGCGGTGGCAGTGGTAGCGGCCTTTGAGCTGTGG
GGAGGTTCCAGCAGCAGCTACAGTGACGACTAAGACTCCAGTGCATTTCTATCGTAACCGGGCGCGGGGGAGCGCAGATCGGCGCCCAGC
AATCACAGAAGCCGACAAGGCGTTCAAGCGAAAACATGACCGCTGAGCCCATGAGATTCCAGAGTCATTAAAAAGTATCACATGGCAGAG
ATTGGGAAAAGGCAATTCAGGACAGTTCTTAGATGCTGCAAAGGCTCTCCAGGTATGGCCACTGATAGAAAAGAGGACATGTTGGCATGG
TCATGCAGGAGGAGGACTCCACACAGACCCAAAAGAAGGGTTAAAAGATGTTGATACTCGGAAAATCATAAAAGCAATGCTTTCTTATGT
GTGGCCCAAAGACAGGCCAGATCTACGAGCTAGAGTTGCCATTTCGCTGGGATTTTTGGGTGGTGCAAAGGCCATGAATATTGTGGTTCC
CTTCATGTTTAAATATGCTGTAGACAGCCTCAACCAGATGTCGGGAAACATGCTGAACCTGAGTGATGCACCAAATACAGTTGCAACCAT
GGCAACAGCAGTTCTGATTGGCTATGGTGTATCAAGAGCTGGAGCTGCTTTTTTTAACGAAGTTCGAAATGCAGTATTTGGCAAGGTAGC
CCAGAATTCAATCCGAAGAATAGCCAAAAATGTCTTTCTCCATCTTCACAACCTGGATCTGGGTTTTCACCTGAGCAGACAGACGGGAGC
TTTATCTAAGGCTATTGACAGAGGAACAAGGGGTATCAGTTTTGTCCTGAGTGCTTTGGTATTTAATCTTCTTCCCATCATGTTTGAAGT
GATGCTTGTCAGTGGTGTTTTGTATTACAAATGCGGTGCCCAGTTTGCTTTGGTAACCCTTGGAACACTTGGTACATACACAGCATTCAC
AGTTGCAGTCACACGGTGGAGAACTAGATTTAGAATAGAAATGAACAAAGCAGATAATGATGCAGGTAATGCTGCTATAGACTCACTGCT
GAATTATGAAACTGTGAAGTATTTTAATAATGAAAGATATGAAGCACAGAGATATGATGGATTTTTGAAGACGTATGAGACTGCTTCATT
GAAAAGTACCTCTACTCTGGCTATGCTGAACTTTGGTCAAAGTGCTATTTTCAGTGTCGGTTTAACAGCTATAATGGTGCTCGCCAGTCA
GGGAATTGTGGCAGGTACCCTTACTGTTGGAGATCTAGTAATGGTGAATGGACTGCTTTTTCAGCTTTCATTACCCCTGAACTTTCTGGG
AACTGTATATAGAGAGACTAGACAAGCACTCATAGATATGAACACCTTGTTTACTCTACTCAAGGTAGACACCCAAATTAAAGACAAAGT
GATGGCATCTCCCCTTCAGATCACACCACAGACAGCTACCGTGGCCTTTGATAATGTGCATTTTGAATACATTGAGGGCCAGAAAGTCCT
TAGTGGAATATCCTTTGAAGTCCCTGCAGGAAAGAAAGTGGCCATTGTAGGAGGTAGTGGGTCAGGGAAAAGCACAATAGTGAGGCTATT
ATTTCGCTTCTATGAGCCTCAAAAGGGTAGCATTTATCTTGCTGGTCAAAATATACAAGATGTGAGCCTGGAAAGCCTTCGGAGGGCAGT
GGGAGTGGTACCTCAGGATGCTGTCCTCTTCCATAATACTATTTATTACAACCTCTTATATGGAAACATCAGTGCTTCACCTGAGGAAGT
GTATGCAGTGGCAAAATTAGCTGGACTTCATGATGCAATTCTTCGAATGCCACATGGATATGACACCCAAGTAGGGGAACGAGGACTCAA
GCTTTCAGGAGGAGAAAAGCAAAGAGTAGCAATTGCAAGAGCCATTTTGAAGGACCCCCCAGTCATACTCTATGATGAAGCTACTTCATC
GTTAGATTCGATTACTGAAGAGACTATTCTTGGTGCCATGAAGGATGTGGTCAAACACAGAACTTCTATTTTCATTGCACACAGATTGTC
AACAGTGGTTGATGCAGATGAAATCATTGTCTTGGATCAGGGTAAGGTAGCCGAACGTGGTACCCACCATGGTTTGCTTGCTAACCCTCA
TAGTATCTATTCAGAAATGTGGCATACACAGAGCAGCCGTGTGCAGAACCATGATAACCCCAAATGGGAAGCAAAGAAAGAAAATATATC
CAAAGAGGAGGAAAGAAAGAAACTACAAGAAGAAATTGTCAATAGTGTGAAAGGCTGTGGAAACTGTTCGTGCTAAGTCACATAAGACAT

>8343_8343_6_ATRX-ABCB7_ATRX_chrX_77041468_ENST00000395603_ABCB7_chrX_74334669_ENST00000373394_length(amino acids)=684AA_BP=
MGKGNSGQFLDAAKALQVWPLIEKRTCWHGHAGGGLHTDPKEGLKDVDTRKIIKAMLSYVWPKDRPDLRARVAISLGFLGGAKAMNIVVP
FMFKYAVDSLNQMSGNMLNLSDAPNTVATMATAVLIGYGVSRAGAAFFNEVRNAVFGKVAQNSIRRIAKNVFLHLHNLDLGFHLSRQTGA
LSKAIDRGTRGISFVLSALVFNLLPIMFEVMLVSGVLYYKCGAQFALVTLGTLGTYTAFTVAVTRWRTRFRIEMNKADNDAGNAAIDSLL
NYETVKYFNNERYEAQRYDGFLKTYETASLKSTSTLAMLNFGQSAIFSVGLTAIMVLASQGIVAGTLTVGDLVMVNGLLFQLSLPLNFLG
TVYRETRQALIDMNTLFTLLKVDTQIKDKVMASPLQITPQTATVAFDNVHFEYIEGQKVLSGISFEVPAGKKVAIVGGSGSGKSTIVRLL
FRFYEPQKGSIYLAGQNIQDVSLESLRRAVGVVPQDAVLFHNTIYYNLLYGNISASPEEVYAVAKLAGLHDAILRMPHGYDTQVGERGLK
LSGGEKQRVAIARAILKDPPVILYDEATSSLDSITEETILGAMKDVVKHRTSIFIAHRLSTVVDADEIIVLDQGKVAERGTHHGLLANPH

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

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Fusion Gene PPI Analysis for ATRX-ABCB7


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
HgeneATRXchrX:77041468chrX:74334669ENST00000373344-1351189_13266.6666666666666672493.0DAXX
HgeneATRXchrX:77041468chrX:74334669ENST00000395603-1341189_13266.6666666666666672455.0DAXX
HgeneATRXchrX:77041468chrX:74334669ENST00000373344-1352010_22806.6666666666666672493.0MECP2
HgeneATRXchrX:77041468chrX:74334669ENST00000395603-1342010_22806.6666666666666672455.0MECP2


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 ATRX-ABCB7


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 ATRX-ABCB7


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneATRXC0796003Juberg-Marsidi syndrome17CLINGEN;CTD_human;GENOMICS_ENGLAND;ORPHANET;UNIPROT
HgeneATRXC1845055ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME, NONDELETION TYPE, X-LINKED16CTD_human;GENOMICS_ENGLAND;UNIPROT
HgeneATRXC0017638Glioma2CTD_human
HgeneATRXC0027819Neuroblastoma2CTD_human
HgeneATRXC0259783mixed gliomas2CTD_human
HgeneATRXC0555198Malignant Glioma2CTD_human
HgeneATRXC0010417Cryptorchidism1CTD_human
HgeneATRXC0010606Adenoid Cystic Carcinoma1CTD_human
HgeneATRXC0018273Growth Disorders1CTD_human
HgeneATRXC0030297Pancreatic Neoplasm1CTD_human
HgeneATRXC0030846Penile Diseases1CTD_human
HgeneATRXC0039978Thoracic Diseases1CTD_human
HgeneATRXC0206754Neuroendocrine Tumors1CTD_human
HgeneATRXC0346647Malignant neoplasm of pancreas1CTD_human
HgeneATRXC0376634Craniofacial Abnormalities1CTD_human
HgeneATRXC0431663Bilateral Cryptorchidism1CTD_human
HgeneATRXC0431664Unilateral Cryptorchidism1CTD_human
HgeneATRXC0585216Alpha-Thalassemia Myelodysplasia Syndrome1CTD_human;GENOMICS_ENGLAND;ORPHANET
HgeneATRXC0796159Mental retardation Smith Fineman Myers type1ORPHANET
HgeneATRXC1136249Mental Retardation, X-Linked1CTD_human
HgeneATRXC1563730Abdominal Cryptorchidism1CTD_human
HgeneATRXC1563731Inguinal Cryptorchidism1CTD_human
HgeneATRXC2713368Hematopoetic Myelodysplasia1CTD_human
HgeneATRXC3463824MYELODYSPLASTIC SYNDROME1CTD_human
TgeneC1845028ANEMIA, SIDEROBLASTIC, AND SPINOCEREBELLAR ATAXIA6CTD_human;GENOMICS_ENGLAND;UNIPROT
TgeneC0002896Sideroblastic anemia2CTD_human
TgeneC0004134Ataxia1CTD_human
TgeneC0240991Ataxia, Sensory1CTD_human
TgeneC0278161Ataxia, Motor1CTD_human
TgeneC0427190Ataxia, Truncal1CTD_human
TgeneC0520966Abnormal coordination1CTD_human
TgeneC0750937Ataxia, Appendicular1CTD_human
TgeneC0750940Tremor, Rubral1CTD_human