Fusion Gene Studies
in Kim Lab

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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 Diseases

Fusion gene:UBA1-RAB3GAP2 (FusionGDB2 ID:HG7317TG25782)

Fusion Gene Summary for UBA1-RAB3GAP2

check button Fusion gene summary
Fusion gene informationFusion gene name: UBA1-RAB3GAP2
Fusion gene ID: hg7317tg25782
HgeneTgene
Gene symbol

UBA1

RAB3GAP2

Gene ID

7317

25782

Gene nameubiquitin like modifier activating enzyme 1RAB3 GTPase activating non-catalytic protein subunit 2
SynonymsA1S9|A1S9T|A1ST|AMCX1|CFAP124|GXP1|POC20|SMAX2|UBA1A|UBE1|UBE1XRAB3-GAP150|RAB3GAP150|SPG69|WARBM2|p150
Cytomap('UBA1')('RAB3GAP2')

Xp11.3

1q41

Type of geneprotein-codingprotein-coding
Descriptionubiquitin-like modifier-activating enzyme 1A1S9T and BN75 temperature sensitivity complementingPOC20 centriolar protein homologUBA1, ubiquitin-activating enzyme E1 homolog Atesticular secretory protein Li 63rab3 GTPase-activating protein non-catalytic subunitRAB3 GTPase activating protein subunit 2 (non-catalytic)RGAP-isorab3 GTPase-activating protein 150 kDa subunitrab3-GAP p150rab3-GAP regulatory subunit
Modification date2020031320200313
UniProtAcc..
Ensembl transtripts involved in fusion geneENST00000335972, ENST00000377269, 
ENST00000377351, ENST00000490869, 
Fusion gene scores* DoF score10 X 10 X 5=50011 X 15 X 5=825
# samples 1115
** MAII scorelog2(11/500*10)=-2.18442457113743
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(15/825*10)=-2.4594316186373
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: UBA1 [Title/Abstract] AND RAB3GAP2 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointUBA1(47071866)-RAB3GAP2(220326669), # samples:1
Anticipated loss of major functional domain due to fusion event.UBA1-RAB3GAP2 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.
UBA1-RAB3GAP2 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
HgeneUBA1

GO:0006974

cellular response to DNA damage stimulus

22456334


check buttonFusion gene breakpoints across UBA1 (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 RAB3GAP2 (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 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
ChimerDB4Non-CancerERR315385UBA1chrX

47071866

+RAB3GAP2chr1

220326669

-


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Fusion Gene ORF analysis for UBA1-RAB3GAP2

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-intronENST00000335972ENST00000462353UBA1chrX

47071866

+RAB3GAP2chr1

220326669

-
5CDS-intronENST00000377269ENST00000462353UBA1chrX

47071866

+RAB3GAP2chr1

220326669

-
5CDS-intronENST00000377351ENST00000462353UBA1chrX

47071866

+RAB3GAP2chr1

220326669

-
In-frameENST00000335972ENST00000358951UBA1chrX

47071866

+RAB3GAP2chr1

220326669

-
In-frameENST00000377269ENST00000358951UBA1chrX

47071866

+RAB3GAP2chr1

220326669

-
In-frameENST00000377351ENST00000358951UBA1chrX

47071866

+RAB3GAP2chr1

220326669

-
intron-3CDSENST00000490869ENST00000358951UBA1chrX

47071866

+RAB3GAP2chr1

220326669

-
intron-intronENST00000490869ENST00000462353UBA1chrX

47071866

+RAB3GAP2chr1

220326669

-

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)
ENST00000377351UBA1chrX47071866+ENST00000358951RAB3GAP2chr1220326669-60152599302588852
ENST00000335972UBA1chrX47071866+ENST00000358951RAB3GAP2chr1220326669-610826921502681843
ENST00000377269UBA1chrX47071866+ENST00000358951RAB3GAP2chr1220326669-504816327791621280

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
ENST00000377351ENST00000358951UBA1chrX47071866+RAB3GAP2chr1220326669-0.000255690.99974436
ENST00000335972ENST00000358951UBA1chrX47071866+RAB3GAP2chr1220326669-0.0002719560.999728
ENST00000377269ENST00000358951UBA1chrX47071866+RAB3GAP2chr1220326669-0.0281949360.9718051

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Fusion Genomic Features for UBA1-RAB3GAP2


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 UBA1-RAB3GAP2


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:47071866/chr1:220326669)
- 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

- In-frame and not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgeneUBA1chrX:47071866chr1:220326669ENST00000335972+1265_1101059.0MotifNote=Nuclear localization signal
HgeneUBA1chrX:47071866chr1:220326669ENST00000377351+1265_1101059.0MotifNote=Nuclear localization signal
HgeneUBA1chrX:47071866chr1:220326669ENST00000335972+126576_57701059.0Nucleotide bindingATP
HgeneUBA1chrX:47071866chr1:220326669ENST00000377351+126576_57701059.0Nucleotide bindingATP
HgeneUBA1chrX:47071866chr1:220326669ENST00000335972+12663_61101059.0RegionNote=2 approximate repeats
HgeneUBA1chrX:47071866chr1:220326669ENST00000377351+12663_61101059.0RegionNote=2 approximate repeats
HgeneUBA1chrX:47071866chr1:220326669ENST00000335972+126459_61101059.0RepeatNote=1-2
HgeneUBA1chrX:47071866chr1:220326669ENST00000335972+12663_19901059.0RepeatNote=1-1
HgeneUBA1chrX:47071866chr1:220326669ENST00000377351+126459_61101059.0RepeatNote=1-2
HgeneUBA1chrX:47071866chr1:220326669ENST00000377351+12663_19901059.0RepeatNote=1-1


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Fusion Gene Sequence for UBA1-RAB3GAP2


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.
>95800_95800_1_UBA1-RAB3GAP2_UBA1_chrX_47071866_ENST00000335972_RAB3GAP2_chr1_220326669_ENST00000358951_length(transcript)=6108nt_BP=2692nt
GGCTCGGCTGTAAGGAGGTGGCAGGGACAACCACAACCACAACGGCCGGGGGAGGAGAAGGCGGCAGCGGCGATTCTAGGCGGCCCAGGC
GGCGGGGAGGAGGAGAAGGAGGAGGGTGGCGGCCGGGCTTGGCTTCGGCTCCTTGAGGAGTTGGCGGCGGCGCGACCCGGGGAACCGGCA
TTGATGTCCAGCTCGCCGCTGTCCAAGAAACGTCGCGTGTCCGGGCCTGATCCAAAGCCGGGTTCTAACTGCTCCCCTGCCCAGTCCGTG
TTGTCCGAAGTGCCCTCGGTGCCAACCAACGGAATGGCCAAGAACGGCAGTGAAGCAGACATAGACGAGGGCCTTTACTCCCGGCAGCTG
TATGTGTTGGGCCATGAGGCAATGAAGCGGCTCCAGACATCCAGTGTCCTGGTATCAGGCCTGCGGGGCCTGGGCGTGGAGATCGCTAAG
AACATCATCCTTGGTGGGGTCAAGGCTGTTACCCTACATGACCAGGGCACTGCCCAGTGGGCTGATCTTTCCTCCCAGTTCTACCTGCGG
GAGGAGGACATCGGTAAAAACCGGGCCGAGGTATCACAGCCCCGCCTCGCTGAGCTCAACAGCTATGTGCCTGTCACTGCCTACACTGGA
CCCCTCGTTGAGGACTTCCTTAGTGGTTTCCAGGTGGTGGTGCTCACCAACACCCCCCTGGAGGACCAGCTGCGAGTGGGTGAGTTCTGT
CACAACCGTGGCATCAAGCTGGTGGTGGCAGACACGCGGGGCCTGTTTGGGCAGCTCTTCTGTGACTTTGGAGAGGAAATGATCCTCACA
GATTCCAATGGGGAGCAGCCACTCAGTGCTATGGTTTCTATGGTTACCAAGGACAACCCCGGTGTGGTTACCTGCCTGGATGAGGCCCGA
CACGGGTTTGAGAGCGGGGACTTTGTCTCCTTTTCAGAAGTACAGGGCATGGTTGAACTCAACGGAAATCAGCCCATGGAGATCAAAGTC
CTGGGTCCTTATACCTTTAGCATCTGTGACACCTCCAACTTCTCCGACTACATCCGTGGAGGCATCGTCAGTCAGGTCAAAGTACCTAAG
AAGATTAGCTTTAAATCCTTGGTGGCCTCACTGGCAGAACCTGACTTTGTGGTGACGGACTTCGCCAAGTTTTCTCGCCCTGCCCAGCTG
CACATTGGCTTCCAGGCCCTGCACCAGTTCTGTGCTCAGCATGGCCGGCCACCTCGGCCCCGCAATGAGGAGGATGCAGCAGAACTGGTA
GCCTTAGCACAGGCTGTGAATGCTCGAGCCCTGCCAGCAGTGCAGCAAAATAACCTGGACGAGGACCTCATCCGGAAGCTGGCATATGTG
GCTGCTGGGGATCTGGCACCCATAAACGCCTTCATTGGGGGCCTGGCTGCCCAGGAAGTCATGAAGGCCTGCTCCGGGAAGTTCATGCCC
ATCATGCAGTGGCTATACTTTGATGCCCTTGAGTGTCTCCCTGAGGACAAAGAGGTCCTCACAGAGGACAAGTGCCTCCAGCGCCAGAAC
CGTTATGACGGGCAAGTGGCTGTGTTTGGCTCAGACCTGCAAGAGAAGCTGGGCAAGCAGAAGTATTTCCTGGTGGGTGCGGGGGCCATT
GGCTGTGAGCTGCTCAAGAACTTTGCCATGATTGGGCTGGGCTGCGGGGAGGGTGGAGAAATCATCGTTACAGACATGGACACCATTGAG
AAGTCAAATCTGAATCGACAGTTTCTTTTCCGGCCCTGGGATGTCACGAAGTTAAAGTCTGACACGGCTGCTGCAGCTGTGCGCCAAATG
AATCCACATATCCGGGTGACAAGCCACCAGAACCGTGTGGGTCCTGACACGGAGCGCATCTATGATGACGATTTTTTCCAAAACCTAGAT
GGCGTGGCCAATGCCCTGGACAACGTGGATGCCCGCATGTACATGGACCGCCGCTGTGTCTACTACCGGAAGCCACTGCTGGAGTCAGGC
ACACTGGGCACCAAAGGCAATGTGCAGGTGGTGATCCCCTTCCTGACAGAGTCGTACAGTTCCAGCCAGGACCCACCTGAGAAGTCCATC
CCCATCTGTACCCTGAAGAACTTCCCTAATGCCATCGAGCACACCCTGCAGTGGGCTCGGGATGAGTTTGAAGGCCTCTTCAAGCAGCCA
GCAGAAAATGTCAACCAGTACCTCACAGACCCCAAGTTTGTGGAGCGAACACTGCGGCTGGCAGGCACTCAGCCCTTGGAGGTGCTGGAG
GCTGTGCAGCGCAGCCTGGTGCTGCAGCGACCACAGACCTGGGCTGACTGCGTGACCTGGGCCTGCCACCACTGGCACACCCAGTACTCG
AACAACATCCGGCAGCTGCTGCACAACTTCCCTCCTGACCAGCTCACAAGCTCAGGAGCGCCGTTCTGGTCTGGGCCCAAACGCTGTCCA
CACCCGCTCACCTTTGATGTCAACAATCCCCTGCATCTGGACTATGTGATGGCTGCTGCCAACCTGTTTGCCCAGACCTACGGGCTGACA
GGCTCTCAGGACCGAGCTGCTGTGGCCACATTCCTGCAGTCTGTGCAGGTCCCCGAATTCACCCCCAAGTCTGGCGTCAAGATCCATGTT
TCTGACCAGGAGCTGCAGAGCGCCAATGCCTCTGTTGGACAAGCTCCCTGGATTCAAGATGTACCCCATTGACTTTGAGAAGGACCCCCA
GGACCTTCAAAACACTGAAGTGCCAATTGCAACAACAGCTAAACTAGTAAATAAAGTAATTGAGCTTTTACCAGAAAAACATGGGCAATA
TGGTCTAGCCTTACACCTCATTGAAGCTGTGGAAGCCATATCTCTTCCTTCTTTATGACACTTACCTACTGGAAATAGTCTAAAATTATG
ATTATAACATGAAGTAGTGCATGGTTATTTTACATAGTAAGACCTGGAATTTTATGGGAAAAGTATGTCTTTTTTTTTCCTTTTGTAAAA
TAAATAAAAGTATATACAACTTTTAAAAAGTGCAACCCTGGCTAAATTCCACTCCTTTGGTTAATACTGAAGATAAAATATAAACAAATG
TCAACTCTGTTATAATTAATACAGATGTTTTACTGTTTATTTCTAATTCAAACACTTAAGTAGCTTTATTGTTAAACTTTGCTATTTAAA
ATTGGTTATAATTTAGATTATGTTCTTATAAGATTCTATATTTCCTATCTAAAATGTTGTTGTAATTCAATTTAAATGTGTTCATGTACA
GTCCCCATCAGTAGCGTATAGAACACCCCACTCTCCTTTAGTAAATGTTGAGAAAATGCCTTTGTTGTCATGCTCCAAATCCCACACTGG
GCTGCCACCTGGGAGTTCTGGATACCGAAAGGTTCCTTTCCCAGAGGTTCTGCTGTTGCCATCAGAGGAGGATGACCGTGCTTGAGGAGG
AAGAATGGGTTCAAGATCATCATATTCATCAGAAGGGGACACTAAATAGAACCCTTAACCTGTTGTACTTGCCAAAATTGAGAATCAGAG
ATGTGTAAAATGCAGCAAATTAATTATAATGTAAGTTAAGATTTGCTTTTTGCCAAGTTGCAAAGTTGTATCCACATCAGGTCACTGTAA
AAATGTATTATCTTGTAAAACTTATGTAAAAAAAAAAAAAAAAAAAAGGCAAAGATACTAAAAATTTTAAGTCCGACTTTATTTTTCCTA
CAAGTGTTTAGAAATGCTTCTGGGATTTGCTAATATTATCTGTCCTTGGGAACAGTATTGAAAAAACTGCTTAGTGGTATTACAGCTTTA
GCAAACCTACCTCACAGCTGGGATGAGAGGATAAAATACAACTAATTTTGTACCCTATAGTGCCTAGAGCAGTCCAAGTGCTAAATAAAT
ATTTACTGATTAAAACCAAACTATAGCTACTCGGGAGGCTGGAGGAGGATCGCTTGAGCCCAGGAGTTTGAGGCCATTCTGGGCAATATA
GCAAGACCCTGTCTCGAAAAAAAAAAAAAAAAGAAAAAACCAAACTAACCAAAACTCTGTAAAAGAGTGCTTTGAGCTCTACAAATACCA
AGTATTTATTGTGGTATATTTTTAGAATGTAGCCATACAGTGTAATTATGGGTATCTGTCATGGATCACAATTATTATTCATAGTAAGTC
ATTGTGATACAGAAGTTTGTTTCTTCACTTCCCCTTAAGAAGCCAACTATAGTAATCATGCAAAGTTGAGGAGTATGTCCTTCAGGGATA
TAAAAAGAAAAACAAATCTGTTTTTTGAGCTAAAAGAGCACATCCAAACAAGAATTTAACTGGCTAAAATTTAGTAATTACTGTTAAGTA
ACTATCAAACTTGAAATCTTACAAGATAAATGGTTAAGATGTCTTGAGTATTTGGGATGGGGGCCTGTGAGTCTGATTGAGACATACATT
TTACAGAGTAGCAGCACTGGAAAGGGCTAGTCCAACCTCCCAGCCTCTGCTTGGGTCTCCGCTGCCCCAGCCACACACATCCTAGAATTC
TTGTAAACATATCTGGCTCTGTGTTAACAGTCACTTGTTATATGTTTTCTAAGAGATTAGTTCTTCCTGTGATTTTTCCAAGTACGCTGA
AAGTAGTAGTATGAACTTAAGGAGGCTAGTCAAAGAAACTTGGAGTTATAGGTATTTTTAAAGAATAAATCCTCAATTCCATCATCACTT
GGCGGGGAGGGGGCACTTATTAAGCATTTTAGATAATAAAACTGGTTAAGCTTACTCTGGTAGAACAGACAATCAAATCTGGGGATTGCT
GAGAACAATAATAAGCTGAAGTATGGCTCACAGAATCCTAACACAAATCATTAAGTCTCTAGTTAGATTTGTTATCCTAAAATTTTTCAT
AGAATTTTAAAATCTAATTCTGACTTGTATGGTTAAGAAAAGCAGTTAAATATTTTACTACTTATCAAGGGCTTTTAAAATAAATAAATC
TGATTGATAGGAAGAAAGGCAAATAAATACCTATGTAGACATTCTATAATAACAAAGAGCCATAGATGATAAAGGAATTAGATTTTAATG
TAGAATGGGTGGTTTCTGAAACAAAGGTATGTGGTACTTTGTAGTTATTGATGAGAAGCCAGTAACCAGTAGTGTTTTCCTAGATATATG
CCCACCCTCACACAACTTTCTTCATTAACAAACATTAAATATGCATTTGTATCTTATTAAATTATATTGTATAATGCTGAAGGAAAACAA
AAAGTGTTCAAATAATCATAACTTCTACATTACAGGTTCTGTTTAGATGCAGAACTAGAGGGGCCAGGGTAAATGTAGATAAAGAGATAT
ATAGCACCATGCTTCTTAATGCTTCATACTTTTGCAAACAGAAAAAAAAAGTTTTACTTTTATTATAAAACTTCATCTATGGTCAAAGTA
AACACTGTTACATTTAAATTGCTTTTTAAAAACAATTGCGATCTAAAAAGTCAAAAATCTGAAATTTAATAATATGAGACTTACACTGAA
TATAATGTTCATTTAGAAGTTGCTGTGGTCCACTTCATTTATAAGGAACAAATATTTTTACAGTACACTATAGCAACAGCAAAAGCCCTC
TCTCACCCTGATAGGAATGGGTTTGCTGGGTGTCTAGAAGTTAGATTCCTGCTGAATAGAATTAGCCATCCTTAAAAGATTTTAATCCAA
TACTGAACTGTTTATAAAATGCTTTCTCTATTGTAATGTACTGTAAGTAGTGAAATTCTGTATATACTGCTATTTTCTGTCTGTTCATTG
TTGTGAACTTCTTATGTATATTAGTGAAATAAATTTTCAGCTTTCAGCCATTCTACAGGTTCATGACAAAGAGGTCCTTGCCTCTCAGCT
GCTGGTGCTCACGGGGCAAAGGCTGGCTCATGCGCTTCTCCACACCCAGACAAAAGAAGGAATGGAGCTGCTTGCCAGACTTCCACCCAC
ACTGTGTACTTGGCTGAAAGCAATGCACCCACTCCTTTTGGGAAAGACCAAGATTGGCCAGCTCTAGCTGTGGATTTAGCCCATCACCTT

>95800_95800_1_UBA1-RAB3GAP2_UBA1_chrX_47071866_ENST00000335972_RAB3GAP2_chr1_220326669_ENST00000358951_length(amino acids)=843AA_BP=
MAAARPGEPALMSSSPLSKKRRVSGPDPKPGSNCSPAQSVLSEVPSVPTNGMAKNGSEADIDEGLYSRQLYVLGHEAMKRLQTSSVLVSG
LRGLGVEIAKNIILGGVKAVTLHDQGTAQWADLSSQFYLREEDIGKNRAEVSQPRLAELNSYVPVTAYTGPLVEDFLSGFQVVVLTNTPL
EDQLRVGEFCHNRGIKLVVADTRGLFGQLFCDFGEEMILTDSNGEQPLSAMVSMVTKDNPGVVTCLDEARHGFESGDFVSFSEVQGMVEL
NGNQPMEIKVLGPYTFSICDTSNFSDYIRGGIVSQVKVPKKISFKSLVASLAEPDFVVTDFAKFSRPAQLHIGFQALHQFCAQHGRPPRP
RNEEDAAELVALAQAVNARALPAVQQNNLDEDLIRKLAYVAAGDLAPINAFIGGLAAQEVMKACSGKFMPIMQWLYFDALECLPEDKEVL
TEDKCLQRQNRYDGQVAVFGSDLQEKLGKQKYFLVGAGAIGCELLKNFAMIGLGCGEGGEIIVTDMDTIEKSNLNRQFLFRPWDVTKLKS
DTAAAAVRQMNPHIRVTSHQNRVGPDTERIYDDDFFQNLDGVANALDNVDARMYMDRRCVYYRKPLLESGTLGTKGNVQVVIPFLTESYS
SSQDPPEKSIPICTLKNFPNAIEHTLQWARDEFEGLFKQPAENVNQYLTDPKFVERTLRLAGTQPLEVLEAVQRSLVLQRPQTWADCVTW
ACHHWHTQYSNNIRQLLHNFPPDQLTSSGAPFWSGPKRCPHPLTFDVNNPLHLDYVMAAANLFAQTYGLTGSQDRAAVATFLQSVQVPEF

--------------------------------------------------------------
>95800_95800_2_UBA1-RAB3GAP2_UBA1_chrX_47071866_ENST00000377269_RAB3GAP2_chr1_220326669_ENST00000358951_length(transcript)=5048nt_BP=1632nt
CTAATTGAAGTTTTTATTTTTTATGGAGGCATAACATATCTAGAATAAGGTACACAGATTTTTTTTTTTTTTTTTTTGAGGTGGAGTTTT
GCTCATGTTGCCCAGGTTGGAGTGCAGTGGCGCAGTCTCGGCTCACTGCAGCCTCCGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGC
CTTCCAAAGTGCTGGGAATACAGGCGTGAGCCACCTCGCCTGGCACTCAGATCTTAATACATTTTTAGGCTGGGCATGGCGGCTGACACC
TATAATCTCAGCACTCAGGAGGCCAAGGAGTGAGGTTTGTTTGAGCCCAGGAGTTCAAGACCAGCCTAGGCAACATAGCAAGACCCTGTC
TCTACAACAAATCTTAAAAATTAGCCGGGTGTGGTGGCATGTGCCTGCTGTCCCAGCTATTCGGGAGGCTGAGGTGGGAGGATCGTTTCA
ACCTGGGAGGTCAAGGCTGCTGTGAGCCGTGATTGCATCGCTGCACTCCAGCTCGGGTGACAGTGTGAGACTTTGTCTCAAACAACAAAA
CAAAACAGTTTTCCACATACACAGCACTATTGTAACCACTGCCCAAATCAACTTCATTGATTTTTCTTTTTTTGAGACAGTCTTCCTCTG
TCACCCAGGCTGGAGTGCAATGGCATGATCTCGGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGAGATTTCCTGCCTCAGCCTCCTGAG
TAGCTGGGATTACAGGCATCTGCCACCACGCCCAGCTACTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGTCAGGCTGGTC
TCGAACCCTTGACCTCAGGTGATCCATCTGCCTTAGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCTACTGTGCCTGGCCTGGTTTTT
CAATTGAGGTGGGGGAATGGGGAAGGCTAGAGGGCTTCCCCACTTCCAGAGTAGCTGTGCGCCTTGTACTTGCTTTATTCACTGATGGTC
CTTCTAATAATGCCTGCGGAAACCCATTTTGTCAACTGTGGCCACATGTAATCTGTTTGCTCTGTCTGCAGTGGGCTCGGGATGAGTTTG
AAGGCCTCTTCAAGCAGCCAGCAGAAAATGTCAACCAGTACCTCACAGACCCCAAGTTTGTGGAGCGAACACTGCGGCTGGCAGGCACTC
AGCCCTTGGAGGTGCTGGAGGCTGTGCAGCGCAGCCTGGTGCTGCAGCGACCACAGACCTGGGCTGACTGCGTGACCTGGGCCTGCCACC
ACTGGCACACCCAGTACTCGAACAACATCCGGCAGCTGCTGCACAACTTCCCTCCTGACCAGCTCACAAGCTCAGGAGCGCCGTTCTGGT
CTGGGCCCAAACGCTGTCCACACCCGCTCACCTTTGATGTCAACAATCCCCTGCATCTGGACTATGTGATGGCTGCTGCCAACCTGTTTG
CCCAGACCTACGGGCTGACAGGCTCTCAGGACCGAGCTGCTGTGGCCACATTCCTGCAGTCTGTGCAGGTCCCCGAATTCACCCCCAAGT
CTGGCGTCAAGATCCATGTTTCTGACCAGGAGCTGCAGAGCGCCAATGCCTCTGTTGGACAAGCTCCCTGGATTCAAGATGTACCCCATT
GACTTTGAGAAGGACCCCCAGGACCTTCAAAACACTGAAGTGCCAATTGCAACAACAGCTAAACTAGTAAATAAAGTAATTGAGCTTTTA
CCAGAAAAACATGGGCAATATGGTCTAGCCTTACACCTCATTGAAGCTGTGGAAGCCATATCTCTTCCTTCTTTATGACACTTACCTACT
GGAAATAGTCTAAAATTATGATTATAACATGAAGTAGTGCATGGTTATTTTACATAGTAAGACCTGGAATTTTATGGGAAAAGTATGTCT
TTTTTTTTCCTTTTGTAAAATAAATAAAAGTATATACAACTTTTAAAAAGTGCAACCCTGGCTAAATTCCACTCCTTTGGTTAATACTGA
AGATAAAATATAAACAAATGTCAACTCTGTTATAATTAATACAGATGTTTTACTGTTTATTTCTAATTCAAACACTTAAGTAGCTTTATT
GTTAAACTTTGCTATTTAAAATTGGTTATAATTTAGATTATGTTCTTATAAGATTCTATATTTCCTATCTAAAATGTTGTTGTAATTCAA
TTTAAATGTGTTCATGTACAGTCCCCATCAGTAGCGTATAGAACACCCCACTCTCCTTTAGTAAATGTTGAGAAAATGCCTTTGTTGTCA
TGCTCCAAATCCCACACTGGGCTGCCACCTGGGAGTTCTGGATACCGAAAGGTTCCTTTCCCAGAGGTTCTGCTGTTGCCATCAGAGGAG
GATGACCGTGCTTGAGGAGGAAGAATGGGTTCAAGATCATCATATTCATCAGAAGGGGACACTAAATAGAACCCTTAACCTGTTGTACTT
GCCAAAATTGAGAATCAGAGATGTGTAAAATGCAGCAAATTAATTATAATGTAAGTTAAGATTTGCTTTTTGCCAAGTTGCAAAGTTGTA
TCCACATCAGGTCACTGTAAAAATGTATTATCTTGTAAAACTTATGTAAAAAAAAAAAAAAAAAAAAGGCAAAGATACTAAAAATTTTAA
GTCCGACTTTATTTTTCCTACAAGTGTTTAGAAATGCTTCTGGGATTTGCTAATATTATCTGTCCTTGGGAACAGTATTGAAAAAACTGC
TTAGTGGTATTACAGCTTTAGCAAACCTACCTCACAGCTGGGATGAGAGGATAAAATACAACTAATTTTGTACCCTATAGTGCCTAGAGC
AGTCCAAGTGCTAAATAAATATTTACTGATTAAAACCAAACTATAGCTACTCGGGAGGCTGGAGGAGGATCGCTTGAGCCCAGGAGTTTG
AGGCCATTCTGGGCAATATAGCAAGACCCTGTCTCGAAAAAAAAAAAAAAAAGAAAAAACCAAACTAACCAAAACTCTGTAAAAGAGTGC
TTTGAGCTCTACAAATACCAAGTATTTATTGTGGTATATTTTTAGAATGTAGCCATACAGTGTAATTATGGGTATCTGTCATGGATCACA
ATTATTATTCATAGTAAGTCATTGTGATACAGAAGTTTGTTTCTTCACTTCCCCTTAAGAAGCCAACTATAGTAATCATGCAAAGTTGAG
GAGTATGTCCTTCAGGGATATAAAAAGAAAAACAAATCTGTTTTTTGAGCTAAAAGAGCACATCCAAACAAGAATTTAACTGGCTAAAAT
TTAGTAATTACTGTTAAGTAACTATCAAACTTGAAATCTTACAAGATAAATGGTTAAGATGTCTTGAGTATTTGGGATGGGGGCCTGTGA
GTCTGATTGAGACATACATTTTACAGAGTAGCAGCACTGGAAAGGGCTAGTCCAACCTCCCAGCCTCTGCTTGGGTCTCCGCTGCCCCAG
CCACACACATCCTAGAATTCTTGTAAACATATCTGGCTCTGTGTTAACAGTCACTTGTTATATGTTTTCTAAGAGATTAGTTCTTCCTGT
GATTTTTCCAAGTACGCTGAAAGTAGTAGTATGAACTTAAGGAGGCTAGTCAAAGAAACTTGGAGTTATAGGTATTTTTAAAGAATAAAT
CCTCAATTCCATCATCACTTGGCGGGGAGGGGGCACTTATTAAGCATTTTAGATAATAAAACTGGTTAAGCTTACTCTGGTAGAACAGAC
AATCAAATCTGGGGATTGCTGAGAACAATAATAAGCTGAAGTATGGCTCACAGAATCCTAACACAAATCATTAAGTCTCTAGTTAGATTT
GTTATCCTAAAATTTTTCATAGAATTTTAAAATCTAATTCTGACTTGTATGGTTAAGAAAAGCAGTTAAATATTTTACTACTTATCAAGG
GCTTTTAAAATAAATAAATCTGATTGATAGGAAGAAAGGCAAATAAATACCTATGTAGACATTCTATAATAACAAAGAGCCATAGATGAT
AAAGGAATTAGATTTTAATGTAGAATGGGTGGTTTCTGAAACAAAGGTATGTGGTACTTTGTAGTTATTGATGAGAAGCCAGTAACCAGT
AGTGTTTTCCTAGATATATGCCCACCCTCACACAACTTTCTTCATTAACAAACATTAAATATGCATTTGTATCTTATTAAATTATATTGT
ATAATGCTGAAGGAAAACAAAAAGTGTTCAAATAATCATAACTTCTACATTACAGGTTCTGTTTAGATGCAGAACTAGAGGGGCCAGGGT
AAATGTAGATAAAGAGATATATAGCACCATGCTTCTTAATGCTTCATACTTTTGCAAACAGAAAAAAAAAGTTTTACTTTTATTATAAAA
CTTCATCTATGGTCAAAGTAAACACTGTTACATTTAAATTGCTTTTTAAAAACAATTGCGATCTAAAAAGTCAAAAATCTGAAATTTAAT
AATATGAGACTTACACTGAATATAATGTTCATTTAGAAGTTGCTGTGGTCCACTTCATTTATAAGGAACAAATATTTTTACAGTACACTA
TAGCAACAGCAAAAGCCCTCTCTCACCCTGATAGGAATGGGTTTGCTGGGTGTCTAGAAGTTAGATTCCTGCTGAATAGAATTAGCCATC
CTTAAAAGATTTTAATCCAATACTGAACTGTTTATAAAATGCTTTCTCTATTGTAATGTACTGTAAGTAGTGAAATTCTGTATATACTGC
TATTTTCTGTCTGTTCATTGTTGTGAACTTCTTATGTATATTAGTGAAATAAATTTTCAGCTTTCAGCCATTCTACAGGTTCATGACAAA
GAGGTCCTTGCCTCTCAGCTGCTGGTGCTCACGGGGCAAAGGCTGGCTCATGCGCTTCTCCACACCCAGACAAAAGAAGGAATGGAGCTG
CTTGCCAGACTTCCACCCACACTGTGTACTTGGCTGAAAGCAATGCACCCACTCCTTTTGGGAAAGACCAAGATTGGCCAGCTCTAGCTG
TGGATTTAGCCCATCACCTTCAAGTTAGTGAAGATGTTGTTAGAAGGCATTATGTGGGGGAACTATACAACTATGGAGTTGACCACTTAG

>95800_95800_2_UBA1-RAB3GAP2_UBA1_chrX_47071866_ENST00000377269_RAB3GAP2_chr1_220326669_ENST00000358951_length(amino acids)=280AA_BP=
MGFHHVGQAGLEPLTSGDPSALASQSAGITGVSYCAWPGFSIEVGEWGRLEGFPTSRVAVRLVLALFTDGPSNNACGNPFCQLWPHVICL
LCLQWARDEFEGLFKQPAENVNQYLTDPKFVERTLRLAGTQPLEVLEAVQRSLVLQRPQTWADCVTWACHHWHTQYSNNIRQLLHNFPPD
QLTSSGAPFWSGPKRCPHPLTFDVNNPLHLDYVMAAANLFAQTYGLTGSQDRAAVATFLQSVQVPEFTPKSGVKIHVSDQELQSANASVG

--------------------------------------------------------------
>95800_95800_3_UBA1-RAB3GAP2_UBA1_chrX_47071866_ENST00000377351_RAB3GAP2_chr1_220326669_ENST00000358951_length(transcript)=6015nt_BP=2599nt
CTTGTACGACAGAGGTGGTTTGCTCTTCCGTTGCCCCGTGGCTTCAGCTCATCTTTGGCAGGAAGGCGAGGCTTCCGCCCGGCACAGGGG
ATGTCCAGCTCGCCGCTGTCCAAGAAACGTCGCGTGTCCGGGCCTGATCCAAAGCCGGGTTCTAACTGCTCCCCTGCCCAGTCCGTGTTG
TCCGAAGTGCCCTCGGTGCCAACCAACGGAATGGCCAAGAACGGCAGTGAAGCAGACATAGACGAGGGCCTTTACTCCCGGCAGCTGTAT
GTGTTGGGCCATGAGGCAATGAAGCGGCTCCAGACATCCAGTGTCCTGGTATCAGGCCTGCGGGGCCTGGGCGTGGAGATCGCTAAGAAC
ATCATCCTTGGTGGGGTCAAGGCTGTTACCCTACATGACCAGGGCACTGCCCAGTGGGCTGATCTTTCCTCCCAGTTCTACCTGCGGGAG
GAGGACATCGGTAAAAACCGGGCCGAGGTATCACAGCCCCGCCTCGCTGAGCTCAACAGCTATGTGCCTGTCACTGCCTACACTGGACCC
CTCGTTGAGGACTTCCTTAGTGGTTTCCAGGTGGTGGTGCTCACCAACACCCCCCTGGAGGACCAGCTGCGAGTGGGTGAGTTCTGTCAC
AACCGTGGCATCAAGCTGGTGGTGGCAGACACGCGGGGCCTGTTTGGGCAGCTCTTCTGTGACTTTGGAGAGGAAATGATCCTCACAGAT
TCCAATGGGGAGCAGCCACTCAGTGCTATGGTTTCTATGGTTACCAAGGACAACCCCGGTGTGGTTACCTGCCTGGATGAGGCCCGACAC
GGGTTTGAGAGCGGGGACTTTGTCTCCTTTTCAGAAGTACAGGGCATGGTTGAACTCAACGGAAATCAGCCCATGGAGATCAAAGTCCTG
GGTCCTTATACCTTTAGCATCTGTGACACCTCCAACTTCTCCGACTACATCCGTGGAGGCATCGTCAGTCAGGTCAAAGTACCTAAGAAG
ATTAGCTTTAAATCCTTGGTGGCCTCACTGGCAGAACCTGACTTTGTGGTGACGGACTTCGCCAAGTTTTCTCGCCCTGCCCAGCTGCAC
ATTGGCTTCCAGGCCCTGCACCAGTTCTGTGCTCAGCATGGCCGGCCACCTCGGCCCCGCAATGAGGAGGATGCAGCAGAACTGGTAGCC
TTAGCACAGGCTGTGAATGCTCGAGCCCTGCCAGCAGTGCAGCAAAATAACCTGGACGAGGACCTCATCCGGAAGCTGGCATATGTGGCT
GCTGGGGATCTGGCACCCATAAACGCCTTCATTGGGGGCCTGGCTGCCCAGGAAGTCATGAAGGCCTGCTCCGGGAAGTTCATGCCCATC
ATGCAGTGGCTATACTTTGATGCCCTTGAGTGTCTCCCTGAGGACAAAGAGGTCCTCACAGAGGACAAGTGCCTCCAGCGCCAGAACCGT
TATGACGGGCAAGTGGCTGTGTTTGGCTCAGACCTGCAAGAGAAGCTGGGCAAGCAGAAGTATTTCCTGGTGGGTGCGGGGGCCATTGGC
TGTGAGCTGCTCAAGAACTTTGCCATGATTGGGCTGGGCTGCGGGGAGGGTGGAGAAATCATCGTTACAGACATGGACACCATTGAGAAG
TCAAATCTGAATCGACAGTTTCTTTTCCGGCCCTGGGATGTCACGAAGTTAAAGTCTGACACGGCTGCTGCAGCTGTGCGCCAAATGAAT
CCACATATCCGGGTGACAAGCCACCAGAACCGTGTGGGTCCTGACACGGAGCGCATCTATGATGACGATTTTTTCCAAAACCTAGATGGC
GTGGCCAATGCCCTGGACAACGTGGATGCCCGCATGTACATGGACCGCCGCTGTGTCTACTACCGGAAGCCACTGCTGGAGTCAGGCACA
CTGGGCACCAAAGGCAATGTGCAGGTGGTGATCCCCTTCCTGACAGAGTCGTACAGTTCCAGCCAGGACCCACCTGAGAAGTCCATCCCC
ATCTGTACCCTGAAGAACTTCCCTAATGCCATCGAGCACACCCTGCAGTGGGCTCGGGATGAGTTTGAAGGCCTCTTCAAGCAGCCAGCA
GAAAATGTCAACCAGTACCTCACAGACCCCAAGTTTGTGGAGCGAACACTGCGGCTGGCAGGCACTCAGCCCTTGGAGGTGCTGGAGGCT
GTGCAGCGCAGCCTGGTGCTGCAGCGACCACAGACCTGGGCTGACTGCGTGACCTGGGCCTGCCACCACTGGCACACCCAGTACTCGAAC
AACATCCGGCAGCTGCTGCACAACTTCCCTCCTGACCAGCTCACAAGCTCAGGAGCGCCGTTCTGGTCTGGGCCCAAACGCTGTCCACAC
CCGCTCACCTTTGATGTCAACAATCCCCTGCATCTGGACTATGTGATGGCTGCTGCCAACCTGTTTGCCCAGACCTACGGGCTGACAGGC
TCTCAGGACCGAGCTGCTGTGGCCACATTCCTGCAGTCTGTGCAGGTCCCCGAATTCACCCCCAAGTCTGGCGTCAAGATCCATGTTTCT
GACCAGGAGCTGCAGAGCGCCAATGCCTCTGTTGGACAAGCTCCCTGGATTCAAGATGTACCCCATTGACTTTGAGAAGGACCCCCAGGA
CCTTCAAAACACTGAAGTGCCAATTGCAACAACAGCTAAACTAGTAAATAAAGTAATTGAGCTTTTACCAGAAAAACATGGGCAATATGG
TCTAGCCTTACACCTCATTGAAGCTGTGGAAGCCATATCTCTTCCTTCTTTATGACACTTACCTACTGGAAATAGTCTAAAATTATGATT
ATAACATGAAGTAGTGCATGGTTATTTTACATAGTAAGACCTGGAATTTTATGGGAAAAGTATGTCTTTTTTTTTCCTTTTGTAAAATAA
ATAAAAGTATATACAACTTTTAAAAAGTGCAACCCTGGCTAAATTCCACTCCTTTGGTTAATACTGAAGATAAAATATAAACAAATGTCA
ACTCTGTTATAATTAATACAGATGTTTTACTGTTTATTTCTAATTCAAACACTTAAGTAGCTTTATTGTTAAACTTTGCTATTTAAAATT
GGTTATAATTTAGATTATGTTCTTATAAGATTCTATATTTCCTATCTAAAATGTTGTTGTAATTCAATTTAAATGTGTTCATGTACAGTC
CCCATCAGTAGCGTATAGAACACCCCACTCTCCTTTAGTAAATGTTGAGAAAATGCCTTTGTTGTCATGCTCCAAATCCCACACTGGGCT
GCCACCTGGGAGTTCTGGATACCGAAAGGTTCCTTTCCCAGAGGTTCTGCTGTTGCCATCAGAGGAGGATGACCGTGCTTGAGGAGGAAG
AATGGGTTCAAGATCATCATATTCATCAGAAGGGGACACTAAATAGAACCCTTAACCTGTTGTACTTGCCAAAATTGAGAATCAGAGATG
TGTAAAATGCAGCAAATTAATTATAATGTAAGTTAAGATTTGCTTTTTGCCAAGTTGCAAAGTTGTATCCACATCAGGTCACTGTAAAAA
TGTATTATCTTGTAAAACTTATGTAAAAAAAAAAAAAAAAAAAAGGCAAAGATACTAAAAATTTTAAGTCCGACTTTATTTTTCCTACAA
GTGTTTAGAAATGCTTCTGGGATTTGCTAATATTATCTGTCCTTGGGAACAGTATTGAAAAAACTGCTTAGTGGTATTACAGCTTTAGCA
AACCTACCTCACAGCTGGGATGAGAGGATAAAATACAACTAATTTTGTACCCTATAGTGCCTAGAGCAGTCCAAGTGCTAAATAAATATT
TACTGATTAAAACCAAACTATAGCTACTCGGGAGGCTGGAGGAGGATCGCTTGAGCCCAGGAGTTTGAGGCCATTCTGGGCAATATAGCA
AGACCCTGTCTCGAAAAAAAAAAAAAAAAGAAAAAACCAAACTAACCAAAACTCTGTAAAAGAGTGCTTTGAGCTCTACAAATACCAAGT
ATTTATTGTGGTATATTTTTAGAATGTAGCCATACAGTGTAATTATGGGTATCTGTCATGGATCACAATTATTATTCATAGTAAGTCATT
GTGATACAGAAGTTTGTTTCTTCACTTCCCCTTAAGAAGCCAACTATAGTAATCATGCAAAGTTGAGGAGTATGTCCTTCAGGGATATAA
AAAGAAAAACAAATCTGTTTTTTGAGCTAAAAGAGCACATCCAAACAAGAATTTAACTGGCTAAAATTTAGTAATTACTGTTAAGTAACT
ATCAAACTTGAAATCTTACAAGATAAATGGTTAAGATGTCTTGAGTATTTGGGATGGGGGCCTGTGAGTCTGATTGAGACATACATTTTA
CAGAGTAGCAGCACTGGAAAGGGCTAGTCCAACCTCCCAGCCTCTGCTTGGGTCTCCGCTGCCCCAGCCACACACATCCTAGAATTCTTG
TAAACATATCTGGCTCTGTGTTAACAGTCACTTGTTATATGTTTTCTAAGAGATTAGTTCTTCCTGTGATTTTTCCAAGTACGCTGAAAG
TAGTAGTATGAACTTAAGGAGGCTAGTCAAAGAAACTTGGAGTTATAGGTATTTTTAAAGAATAAATCCTCAATTCCATCATCACTTGGC
GGGGAGGGGGCACTTATTAAGCATTTTAGATAATAAAACTGGTTAAGCTTACTCTGGTAGAACAGACAATCAAATCTGGGGATTGCTGAG
AACAATAATAAGCTGAAGTATGGCTCACAGAATCCTAACACAAATCATTAAGTCTCTAGTTAGATTTGTTATCCTAAAATTTTTCATAGA
ATTTTAAAATCTAATTCTGACTTGTATGGTTAAGAAAAGCAGTTAAATATTTTACTACTTATCAAGGGCTTTTAAAATAAATAAATCTGA
TTGATAGGAAGAAAGGCAAATAAATACCTATGTAGACATTCTATAATAACAAAGAGCCATAGATGATAAAGGAATTAGATTTTAATGTAG
AATGGGTGGTTTCTGAAACAAAGGTATGTGGTACTTTGTAGTTATTGATGAGAAGCCAGTAACCAGTAGTGTTTTCCTAGATATATGCCC
ACCCTCACACAACTTTCTTCATTAACAAACATTAAATATGCATTTGTATCTTATTAAATTATATTGTATAATGCTGAAGGAAAACAAAAA
GTGTTCAAATAATCATAACTTCTACATTACAGGTTCTGTTTAGATGCAGAACTAGAGGGGCCAGGGTAAATGTAGATAAAGAGATATATA
GCACCATGCTTCTTAATGCTTCATACTTTTGCAAACAGAAAAAAAAAGTTTTACTTTTATTATAAAACTTCATCTATGGTCAAAGTAAAC
ACTGTTACATTTAAATTGCTTTTTAAAAACAATTGCGATCTAAAAAGTCAAAAATCTGAAATTTAATAATATGAGACTTACACTGAATAT
AATGTTCATTTAGAAGTTGCTGTGGTCCACTTCATTTATAAGGAACAAATATTTTTACAGTACACTATAGCAACAGCAAAAGCCCTCTCT
CACCCTGATAGGAATGGGTTTGCTGGGTGTCTAGAAGTTAGATTCCTGCTGAATAGAATTAGCCATCCTTAAAAGATTTTAATCCAATAC
TGAACTGTTTATAAAATGCTTTCTCTATTGTAATGTACTGTAAGTAGTGAAATTCTGTATATACTGCTATTTTCTGTCTGTTCATTGTTG
TGAACTTCTTATGTATATTAGTGAAATAAATTTTCAGCTTTCAGCCATTCTACAGGTTCATGACAAAGAGGTCCTTGCCTCTCAGCTGCT
GGTGCTCACGGGGCAAAGGCTGGCTCATGCGCTTCTCCACACCCAGACAAAAGAAGGAATGGAGCTGCTTGCCAGACTTCCACCCACACT
GTGTACTTGGCTGAAAGCAATGCACCCACTCCTTTTGGGAAAGACCAAGATTGGCCAGCTCTAGCTGTGGATTTAGCCCATCACCTTCAA

>95800_95800_3_UBA1-RAB3GAP2_UBA1_chrX_47071866_ENST00000377351_RAB3GAP2_chr1_220326669_ENST00000358951_length(amino acids)=852AA_BP=
MPRGFSSSLAGRRGFRPAQGMSSSPLSKKRRVSGPDPKPGSNCSPAQSVLSEVPSVPTNGMAKNGSEADIDEGLYSRQLYVLGHEAMKRL
QTSSVLVSGLRGLGVEIAKNIILGGVKAVTLHDQGTAQWADLSSQFYLREEDIGKNRAEVSQPRLAELNSYVPVTAYTGPLVEDFLSGFQ
VVVLTNTPLEDQLRVGEFCHNRGIKLVVADTRGLFGQLFCDFGEEMILTDSNGEQPLSAMVSMVTKDNPGVVTCLDEARHGFESGDFVSF
SEVQGMVELNGNQPMEIKVLGPYTFSICDTSNFSDYIRGGIVSQVKVPKKISFKSLVASLAEPDFVVTDFAKFSRPAQLHIGFQALHQFC
AQHGRPPRPRNEEDAAELVALAQAVNARALPAVQQNNLDEDLIRKLAYVAAGDLAPINAFIGGLAAQEVMKACSGKFMPIMQWLYFDALE
CLPEDKEVLTEDKCLQRQNRYDGQVAVFGSDLQEKLGKQKYFLVGAGAIGCELLKNFAMIGLGCGEGGEIIVTDMDTIEKSNLNRQFLFR
PWDVTKLKSDTAAAAVRQMNPHIRVTSHQNRVGPDTERIYDDDFFQNLDGVANALDNVDARMYMDRRCVYYRKPLLESGTLGTKGNVQVV
IPFLTESYSSSQDPPEKSIPICTLKNFPNAIEHTLQWARDEFEGLFKQPAENVNQYLTDPKFVERTLRLAGTQPLEVLEAVQRSLVLQRP
QTWADCVTWACHHWHTQYSNNIRQLLHNFPPDQLTSSGAPFWSGPKRCPHPLTFDVNNPLHLDYVMAAANLFAQTYGLTGSQDRAAVATF

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

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Fusion Gene PPI Analysis for UBA1-RAB3GAP2


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 UBA1-RAB3GAP2


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 UBA1-RAB3GAP2


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneUBA1C1844934Arthrogryposis multiplex congenita, distal, X-linked2CTD_human;GENOMICS_ENGLAND;ORPHANET;UNIPROT
HgeneUBA1C0007137Squamous cell carcinoma1CTD_human
TgeneC3280214WARBURG MICRO SYNDROME 24GENOMICS_ENGLAND
TgeneC0796037Martsolf syndrome3CTD_human;GENOMICS_ENGLAND;ORPHANET;UNIPROT
TgeneC0037772Spastic Paraplegia1GENOMICS_ENGLAND
TgeneC1838625Warburg Sjo Fledelius syndrome1CTD_human;GENOMICS_ENGLAND;ORPHANET