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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 Drugs

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Related Diseases

Fusion gene:RAB3GAP2-CNIH4 (FusionGDB2 ID:HG25782TG29097)

Fusion Gene Summary for RAB3GAP2-CNIH4

check button Fusion gene summary
Fusion gene informationFusion gene name: RAB3GAP2-CNIH4
Fusion gene ID: hg25782tg29097
HgeneTgene
Gene symbol

RAB3GAP2

CNIH4

Gene ID

25782

29097

Gene nameRAB3 GTPase activating non-catalytic protein subunit 2cornichon family AMPA receptor auxiliary protein 4
SynonymsRAB3-GAP150|RAB3GAP150|SPG69|WARBM2|p150CNIH-4|CNIH2|HSPC163
Cytomap('RAB3GAP2')('CNIH4')

1q41

1q42.11

Type of geneprotein-codingprotein-coding
Descriptionrab3 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 subunitprotein cornichon homolog 4cornichon homolog 4
Modification date2020031320200313
UniProtAcc..
Ensembl transtripts involved in fusion geneENST00000358951, ENST00000462353, 
Fusion gene scores* DoF score12 X 12 X 7=100810 X 7 X 8=560
# samples 1513
** MAII scorelog2(15/1008*10)=-2.74846123300404
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(13/560*10)=-2.10691520391651
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: RAB3GAP2 [Title/Abstract] AND CNIH4 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointRAB3GAP2(220383730)-CNIH4(224563497), # samples:2
RAB3GAP2(220383729)-CNIH4(224563496), # 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

check buttonFusion gene breakpoints across RAB3GAP2 (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 CNIH4 (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
ChimerDB4BRCATCGA-A2-A1FW-01ARAB3GAP2chr1

220383729

-CNIH4chr1

224563496

+
ChimerDB4BRCATCGA-A2-A1FW-01ARAB3GAP2chr1

220383730

-CNIH4chr1

224563497

+
ChimerDB4BRCATCGA-A2-A1FWRAB3GAP2chr1

220383729

-CNIH4chr1

224563496

+


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Fusion Gene ORF analysis for RAB3GAP2-CNIH4

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-3UTRENST00000358951ENST00000468318RAB3GAP2chr1

220383730

-CNIH4chr1

224563497

+
5CDS-3UTRENST00000358951ENST00000468318RAB3GAP2chr1

220383729

-CNIH4chr1

224563496

+
5CDS-intronENST00000358951ENST00000366856RAB3GAP2chr1

220383730

-CNIH4chr1

224563497

+
5CDS-intronENST00000358951ENST00000366856RAB3GAP2chr1

220383729

-CNIH4chr1

224563496

+
5CDS-intronENST00000358951ENST00000366857RAB3GAP2chr1

220383730

-CNIH4chr1

224563497

+
5CDS-intronENST00000358951ENST00000366857RAB3GAP2chr1

220383729

-CNIH4chr1

224563496

+
5CDS-intronENST00000358951ENST00000366858RAB3GAP2chr1

220383730

-CNIH4chr1

224563497

+
5CDS-intronENST00000358951ENST00000366858RAB3GAP2chr1

220383729

-CNIH4chr1

224563496

+
In-frameENST00000358951ENST00000465271RAB3GAP2chr1

220383730

-CNIH4chr1

224563497

+
In-frameENST00000358951ENST00000465271RAB3GAP2chr1

220383729

-CNIH4chr1

224563496

+
intron-3CDSENST00000462353ENST00000465271RAB3GAP2chr1

220383730

-CNIH4chr1

224563497

+
intron-3CDSENST00000462353ENST00000465271RAB3GAP2chr1

220383729

-CNIH4chr1

224563496

+
intron-3UTRENST00000462353ENST00000468318RAB3GAP2chr1

220383730

-CNIH4chr1

224563497

+
intron-3UTRENST00000462353ENST00000468318RAB3GAP2chr1

220383729

-CNIH4chr1

224563496

+
intron-intronENST00000462353ENST00000366856RAB3GAP2chr1

220383730

-CNIH4chr1

224563497

+
intron-intronENST00000462353ENST00000366856RAB3GAP2chr1

220383729

-CNIH4chr1

224563496

+
intron-intronENST00000462353ENST00000366857RAB3GAP2chr1

220383730

-CNIH4chr1

224563497

+
intron-intronENST00000462353ENST00000366857RAB3GAP2chr1

220383729

-CNIH4chr1

224563496

+
intron-intronENST00000462353ENST00000366858RAB3GAP2chr1

220383730

-CNIH4chr1

224563497

+
intron-intronENST00000462353ENST00000366858RAB3GAP2chr1

220383729

-CNIH4chr1

224563496

+

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)
ENST00000358951RAB3GAP2chr1220383730-ENST00000465271CNIH4chr1224563497+4387729117752211
ENST00000358951RAB3GAP2chr1220383729-ENST00000465271CNIH4chr1224563496+4387729117752211

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
ENST00000358951ENST00000465271RAB3GAP2chr1220383730-CNIH4chr1224563497+0.0017758030.9982242
ENST00000358951ENST00000465271RAB3GAP2chr1220383729-CNIH4chr1224563496+0.0017758030.9982242

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Fusion Genomic Features for RAB3GAP2-CNIH4


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)
RAB3GAP2chr1220383729-CNIH4chr1224563496+9.79E-070.99999905
RAB3GAP2chr1220383729-CNIH4chr1224563496+9.79E-070.99999905
RAB3GAP2chr1220383729-CNIH4chr1224563496+9.79E-070.99999905
RAB3GAP2chr1220383729-CNIH4chr1224563496+9.79E-070.99999905

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

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.
genomic feature of top 1%

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Fusion Protein Features for RAB3GAP2-CNIH4


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/chr1:220383730/chr1:224563497)
- 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
TgeneCNIH4chr1:220383729chr1:224563496ENST0000036685724118_1388393.0TransmembraneHelical
TgeneCNIH4chr1:220383730chr1:224563497ENST0000036685724118_1388393.0TransmembraneHelical

- In-frame and not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
TgeneCNIH4chr1:220383729chr1:224563496ENST000003668572457_778393.0TransmembraneHelical
TgeneCNIH4chr1:220383729chr1:224563496ENST00000366857245_258393.0TransmembraneHelical
TgeneCNIH4chr1:220383729chr1:224563496ENST0000046527135118_138130140.0TransmembraneHelical
TgeneCNIH4chr1:220383729chr1:224563496ENST000004652713557_77130140.0TransmembraneHelical
TgeneCNIH4chr1:220383729chr1:224563496ENST00000465271355_25130140.0TransmembraneHelical
TgeneCNIH4chr1:220383730chr1:224563497ENST000003668572457_778393.0TransmembraneHelical
TgeneCNIH4chr1:220383730chr1:224563497ENST00000366857245_258393.0TransmembraneHelical
TgeneCNIH4chr1:220383730chr1:224563497ENST0000046527135118_138130140.0TransmembraneHelical
TgeneCNIH4chr1:220383730chr1:224563497ENST000004652713557_77130140.0TransmembraneHelical
TgeneCNIH4chr1:220383730chr1:224563497ENST00000465271355_25130140.0TransmembraneHelical


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Fusion Gene Sequence for RAB3GAP2-CNIH4


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.
>71366_71366_1_RAB3GAP2-CNIH4_RAB3GAP2_chr1_220383729_ENST00000358951_CNIH4_chr1_224563496_ENST00000465271_length(transcript)=4387nt_BP=729nt
GGTTTCTCCGCCTTCTGCTTGGCTAGAGCTATTGGGGCTCGGTGGCGGCCGCAGTGGGGTGGAGGGGGCAGGGCGTGGTGAGGTAAGGTG
AGTGCCGTAGTGGGGTTCCCTGGAGCCATGGCCTGCTCCATTGTCCAGTTCTGCTACTTCCAGGACCTCCAGGCCGCCCGGGACTTCCTC
TTTCCTCACCTGCGGGAGGAGATCCTCAGCGGCGCCTTGCGGAGGGACCCCAGTAAATCAACAGACTGGGAAGATGATGGTTGGGGAGCA
TGGGAAGAAAATGAACCACAAGAACCTGAAGAAGAAGGAAATACTTGCAAAACACAAAAAACTTCCTGGCTCCAAGATTGTGTTTTATCC
TTATCTCCAACCAATGATCTTATGGTGATAGCTCGAGAGCAAAAAGCTGTATTTCTAGTGCCAAAATGGAAATATAGTGATAAAGGAAAG
GAAGAAATGCAATTTGCTGTTGGCTGGAGTGGTTCCTTAAATGTCGAAGAAGGGGAATGTGTAACCAGTGCTCTATGTATCCCACTAGCA
AGCCAAAAGAGGAGTTCCACTGGGCGTCCTGACTGGACCTGCATTGTGGTGGGTTTTACTTCAGGTTATGTACGCTTCTACACTGAGAAT
GGTGTGCTCTTGCTTGCACAGCTTTTGAATGAGGACCCAGTACTTCAACTTAAATGCAGAACCTATGAAATACCACGACATCCCGGCGTG
ACTGAGCAGTATGATCTTAGCTTTGATAAATGACTGAAGCTGGAGAAGCCGTGGTTGAAGTCAGCCTACACTACAGTGCACAGTTGAGGA
GCCAGAGACTTCTTAAATCATCCTTAGAACCGTGACCATAGCAGTATATATTTTCCTCTTGGAACAAAAAACTATTTTTGCTGTATTTTT
ACCATATAAAGTATTTAAAAAACATGAATTGAGTTTCTGTAGATTTCTAGTTCTCAACTTTAGCCTGAACGCCAACACTTGAAGGTGTTT
TTCATCCTCTGTATGTTGAAGGTGGTTATTTGTATGTAGGAACAGGACTGCCATCCCAGCTTTGCATGCCAAAGAAATAAAGAACACACT
TTAAAGGGCAAACTGAAGAGATGAGCGAGCAAAGGTGCCCTTCAGGTCTACTGAAAAGTTAGAGTACAAAACAACACTGTTGATCTGGAC
AAAAGAAGAAAAATTACCCTTTTTGCTTGTGTTGTGACAACTTCATTTAATATGGTTTAAAGATTTATGAGACTGTCAGCTAAAAGTCTT
TTCACAAGAATGTCAACAGAGAATGGCATCTCAAAATATATATATTTCTTTGCACAATTTGTGAAACCTTATAAGCCATTTTCCCCAGGT
ACAATGTAGTTCCTGCTGATAGAAAGGAAATATTTTGTCAAGAGCTTTCATTTAAAAGCTACTACCTCCACAATCACCCCCAAACCCAGA
AAATCCCCACTGGCTCTTGCCAGTCTGGTTTTCGTATTGCAGTTATTCCAATTGTATTTGATCTCCCTGATAACGTATTTTCATGGGTTT
GGGTAGAAGATGCTAATCAGATTAGAAGCAGGAATAGTTATTTGCTGTCTGTGAAATTGAGCCTTTTGGTGCGCCACGTGGTGCCAGATC
AACACTTCTATCCCTCTGCACTGACCACGTTGTGAACTGGGAGACCAAATGCAAGCCATTTCATGGACATAGCAATATACAACCAAACTC
TGTTCCTTGGAGTTATATTGTAAACTCTTGCAGGTGGGAGAGCAGTTCACCTCCTTAGCTCTGTTTGCCAGCTCTTACAGGGTAAAATAA
ACCTGGCAATTTATCCTCAGTCCTAGTTTGTGGTTTAATGTTGCTATCTTAAGCACTGGCATTTGGGCAAAACATGACTGTGTTCTGTGG
GAGAATCCAAAGGCATTATTCACTCTAGTTGAGATAGAATTGGGTGGCTAAACAGGGTGTGTGGTACCCAAAAGATTAAATGTTACATGT
CCTTTTAGTCCTTGACCAGGTCTAGCCTTGGCAGAAGCAAGGGAGCCACTAAGCCAAACTCCCTGTGCAGACAGACCATGTTTCAAGGCT
GGAAGTAGTGCCCTGGCAACACACAAAAGGAACGGTGAAATGGTAGGCAAAGTGAACTTGGCTCTGCTGGCCTCTTTGGGGTCACAGAAA
TTGCTCCTTGTGGTAATCTTATATTTCTGTCAGGCACAGGGCCAAGAAGCTGTGTAACAGACATTACTTTGCTTGCATCTCTTTTTCATA
CCTTTTCCCTCTGAGGCAGCTTTTGCTTAGAAAACAGTCCCTTCACTCTGCCTTTCCTCCTAACTTCCTGTGCCTCTTCATGTTCTGCTC
AAGCTTTTTAAAGCAACGAAGCTGTTGGAGAACTTAAATCCTTGCAACTGAGAGATAAGCTACTTAAAGGCGGTAGAGATCTTTTTTTTT
TTTTTTTTGAGATGGGGTCTTGCTGTGTTGCCCAGGCTGGAGTGCAGTGGTGTGATCTCAGCTCACTGCAACCTCTGCTTTCTGGGTTCA
AGCGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACGGCTAGCTACTCCTGGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTT
CACCATGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAAACGATCTGCCTGCCTTGGTCTCCCAAAGTGCTGGGATTATAGGTGTGAGC
CACTGCGCCTGGCCATGTAGATGACTTTTGACCAAAATGTTTCACCTTCTCATTCAGATATTCTTAGTAACCAAAACAGTGACTCATGCA
GTTGAGAGAGCCTTTGGGCTGTCAGTTTACAGTACATCAGGCTTGCTGAGGCTAAGCAAATCAGAAAGGTGCCATGTTTATAACAGAGGT
CAAAGCTCCTTACTTCTGAAACATTAGCTGTGGTTAAAAACAAAAACTCTTCCTTCTTGTATTGCTTGTCTATCAAAGCCAGGAAAGTGG
GGGATCACTGTAGTTAAATTTTTTTTTTTTTTAATTAGAGACAGAGTCTTGCCCTGTCGCCCAAGCTGGAGTGCACTGGCGCAATCGTGG
TACACTGCAGCCTTGAACTCCTGGACTCAAGCAGTCCTCCTGCCTCAGCTTCCCAAGTAGTTGGGAGTAGGTGCACACCACCATGCCCAG
CGAATTTTTTGTAGAGACAGAGGTCTTGCTATGTTGCCTAGGCTGGTATCAAAATTACTGGCCTCAAGCGATTCTCCTGCCTCGGCCTCC
CAGATGTTGGGATTACTGGTGTGAGCCACCACGCCCAGCTCAAAAACAATTTTTTTAGGGGCACTTCTACAAATCATGAAAGGGGGATAA
AAGCACTGACTTTAAAAAGCCATGTTTAAGATGCTATAAATGTTCTCCCCTTTTCATTGATTGGAGAGTTGTAGAGGACCTTAGAGATCA
TTTTGTCTAACTCCCTCATCCCAAAGATAAACTGAGGCCTAGAGATCGTTCAGGGTGTTGTAACTGGGAACATCTGAATGCTGAGGCCTA
GAGATCGTTCAGGGTGTTGTAACTGGGAACATCTGAATGCTGAGGCCTAGAGATCGTTCAGGGTGTTGTAACTGGGAACATCTGAATGCT
GAGGCCTAGAGATCGTTCAGGGTGTTGTAACTGGGAACATCTGAATGCTGAGGCCTAGAGATCGTTCAGGGTGTTGTAACTGGGAACATC
TGAATGCTGAGGCCTAGAGATCGTTCAGGGTGTTGTAACTGGGAACATCTGAATGCTGAGGCCTAGAGATCGTTCAGGGTGTTGTAACTG
GGAACATCTGAATGCTGAGGCCTAGAGATCGTTCAGGGTGTTGTAACTGGGAACATCTGAATGCTGAGGCTTAGTCCAGTGTTCTCTCTC
CCTTACCACTCCTCTTCCCCTTCCCTCTATAATGGCAGTACCCAGGGCCCGGTCCATAGACTACTATCGAGTGCTCCTATGTGCATCTTA
GTACGTATCATTTTCCCTTGCCTTTTTCCTTCTATCCTTTCAGTGGTAGCAACTGCCCTTGCTAATCACCGTAACCTCGGCTGAGAAAGA
AGAGGAAGCGAAATCCAAGATGCAGCTCAGTTCATCAAAGCCTAGCAGGTCCCCTCAGCTGCCTTTTCATGCCTGCCACAGACTACAGTA
GGACAAAACCTGACCTGGTCTTTGAAGTTAAGAGCTAAGAAAGCTTCCTATAGTAGTATCTCCCATGGCACTTACCACATTCTATCTGGT
ATTACAGTTATTTGTATGCAATTAATCACTCTTAGATTGTATGTTCCTGGAGGGCAGAATATGCCCATTCATATTTGTATCTTCTTCCTT

>71366_71366_1_RAB3GAP2-CNIH4_RAB3GAP2_chr1_220383729_ENST00000358951_CNIH4_chr1_224563496_ENST00000465271_length(amino acids)=211AA_BP=
MACSIVQFCYFQDLQAARDFLFPHLREEILSGALRRDPSKSTDWEDDGWGAWEENEPQEPEEEGNTCKTQKTSWLQDCVLSLSPTNDLMV
IAREQKAVFLVPKWKYSDKGKEEMQFAVGWSGSLNVEEGECVTSALCIPLASQKRSSTGRPDWTCIVVGFTSGYVRFYTENGVLLLAQLL

--------------------------------------------------------------
>71366_71366_2_RAB3GAP2-CNIH4_RAB3GAP2_chr1_220383730_ENST00000358951_CNIH4_chr1_224563497_ENST00000465271_length(transcript)=4387nt_BP=729nt
GGTTTCTCCGCCTTCTGCTTGGCTAGAGCTATTGGGGCTCGGTGGCGGCCGCAGTGGGGTGGAGGGGGCAGGGCGTGGTGAGGTAAGGTG
AGTGCCGTAGTGGGGTTCCCTGGAGCCATGGCCTGCTCCATTGTCCAGTTCTGCTACTTCCAGGACCTCCAGGCCGCCCGGGACTTCCTC
TTTCCTCACCTGCGGGAGGAGATCCTCAGCGGCGCCTTGCGGAGGGACCCCAGTAAATCAACAGACTGGGAAGATGATGGTTGGGGAGCA
TGGGAAGAAAATGAACCACAAGAACCTGAAGAAGAAGGAAATACTTGCAAAACACAAAAAACTTCCTGGCTCCAAGATTGTGTTTTATCC
TTATCTCCAACCAATGATCTTATGGTGATAGCTCGAGAGCAAAAAGCTGTATTTCTAGTGCCAAAATGGAAATATAGTGATAAAGGAAAG
GAAGAAATGCAATTTGCTGTTGGCTGGAGTGGTTCCTTAAATGTCGAAGAAGGGGAATGTGTAACCAGTGCTCTATGTATCCCACTAGCA
AGCCAAAAGAGGAGTTCCACTGGGCGTCCTGACTGGACCTGCATTGTGGTGGGTTTTACTTCAGGTTATGTACGCTTCTACACTGAGAAT
GGTGTGCTCTTGCTTGCACAGCTTTTGAATGAGGACCCAGTACTTCAACTTAAATGCAGAACCTATGAAATACCACGACATCCCGGCGTG
ACTGAGCAGTATGATCTTAGCTTTGATAAATGACTGAAGCTGGAGAAGCCGTGGTTGAAGTCAGCCTACACTACAGTGCACAGTTGAGGA
GCCAGAGACTTCTTAAATCATCCTTAGAACCGTGACCATAGCAGTATATATTTTCCTCTTGGAACAAAAAACTATTTTTGCTGTATTTTT
ACCATATAAAGTATTTAAAAAACATGAATTGAGTTTCTGTAGATTTCTAGTTCTCAACTTTAGCCTGAACGCCAACACTTGAAGGTGTTT
TTCATCCTCTGTATGTTGAAGGTGGTTATTTGTATGTAGGAACAGGACTGCCATCCCAGCTTTGCATGCCAAAGAAATAAAGAACACACT
TTAAAGGGCAAACTGAAGAGATGAGCGAGCAAAGGTGCCCTTCAGGTCTACTGAAAAGTTAGAGTACAAAACAACACTGTTGATCTGGAC
AAAAGAAGAAAAATTACCCTTTTTGCTTGTGTTGTGACAACTTCATTTAATATGGTTTAAAGATTTATGAGACTGTCAGCTAAAAGTCTT
TTCACAAGAATGTCAACAGAGAATGGCATCTCAAAATATATATATTTCTTTGCACAATTTGTGAAACCTTATAAGCCATTTTCCCCAGGT
ACAATGTAGTTCCTGCTGATAGAAAGGAAATATTTTGTCAAGAGCTTTCATTTAAAAGCTACTACCTCCACAATCACCCCCAAACCCAGA
AAATCCCCACTGGCTCTTGCCAGTCTGGTTTTCGTATTGCAGTTATTCCAATTGTATTTGATCTCCCTGATAACGTATTTTCATGGGTTT
GGGTAGAAGATGCTAATCAGATTAGAAGCAGGAATAGTTATTTGCTGTCTGTGAAATTGAGCCTTTTGGTGCGCCACGTGGTGCCAGATC
AACACTTCTATCCCTCTGCACTGACCACGTTGTGAACTGGGAGACCAAATGCAAGCCATTTCATGGACATAGCAATATACAACCAAACTC
TGTTCCTTGGAGTTATATTGTAAACTCTTGCAGGTGGGAGAGCAGTTCACCTCCTTAGCTCTGTTTGCCAGCTCTTACAGGGTAAAATAA
ACCTGGCAATTTATCCTCAGTCCTAGTTTGTGGTTTAATGTTGCTATCTTAAGCACTGGCATTTGGGCAAAACATGACTGTGTTCTGTGG
GAGAATCCAAAGGCATTATTCACTCTAGTTGAGATAGAATTGGGTGGCTAAACAGGGTGTGTGGTACCCAAAAGATTAAATGTTACATGT
CCTTTTAGTCCTTGACCAGGTCTAGCCTTGGCAGAAGCAAGGGAGCCACTAAGCCAAACTCCCTGTGCAGACAGACCATGTTTCAAGGCT
GGAAGTAGTGCCCTGGCAACACACAAAAGGAACGGTGAAATGGTAGGCAAAGTGAACTTGGCTCTGCTGGCCTCTTTGGGGTCACAGAAA
TTGCTCCTTGTGGTAATCTTATATTTCTGTCAGGCACAGGGCCAAGAAGCTGTGTAACAGACATTACTTTGCTTGCATCTCTTTTTCATA
CCTTTTCCCTCTGAGGCAGCTTTTGCTTAGAAAACAGTCCCTTCACTCTGCCTTTCCTCCTAACTTCCTGTGCCTCTTCATGTTCTGCTC
AAGCTTTTTAAAGCAACGAAGCTGTTGGAGAACTTAAATCCTTGCAACTGAGAGATAAGCTACTTAAAGGCGGTAGAGATCTTTTTTTTT
TTTTTTTTGAGATGGGGTCTTGCTGTGTTGCCCAGGCTGGAGTGCAGTGGTGTGATCTCAGCTCACTGCAACCTCTGCTTTCTGGGTTCA
AGCGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACGGCTAGCTACTCCTGGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTT
CACCATGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAAACGATCTGCCTGCCTTGGTCTCCCAAAGTGCTGGGATTATAGGTGTGAGC
CACTGCGCCTGGCCATGTAGATGACTTTTGACCAAAATGTTTCACCTTCTCATTCAGATATTCTTAGTAACCAAAACAGTGACTCATGCA
GTTGAGAGAGCCTTTGGGCTGTCAGTTTACAGTACATCAGGCTTGCTGAGGCTAAGCAAATCAGAAAGGTGCCATGTTTATAACAGAGGT
CAAAGCTCCTTACTTCTGAAACATTAGCTGTGGTTAAAAACAAAAACTCTTCCTTCTTGTATTGCTTGTCTATCAAAGCCAGGAAAGTGG
GGGATCACTGTAGTTAAATTTTTTTTTTTTTTAATTAGAGACAGAGTCTTGCCCTGTCGCCCAAGCTGGAGTGCACTGGCGCAATCGTGG
TACACTGCAGCCTTGAACTCCTGGACTCAAGCAGTCCTCCTGCCTCAGCTTCCCAAGTAGTTGGGAGTAGGTGCACACCACCATGCCCAG
CGAATTTTTTGTAGAGACAGAGGTCTTGCTATGTTGCCTAGGCTGGTATCAAAATTACTGGCCTCAAGCGATTCTCCTGCCTCGGCCTCC
CAGATGTTGGGATTACTGGTGTGAGCCACCACGCCCAGCTCAAAAACAATTTTTTTAGGGGCACTTCTACAAATCATGAAAGGGGGATAA
AAGCACTGACTTTAAAAAGCCATGTTTAAGATGCTATAAATGTTCTCCCCTTTTCATTGATTGGAGAGTTGTAGAGGACCTTAGAGATCA
TTTTGTCTAACTCCCTCATCCCAAAGATAAACTGAGGCCTAGAGATCGTTCAGGGTGTTGTAACTGGGAACATCTGAATGCTGAGGCCTA
GAGATCGTTCAGGGTGTTGTAACTGGGAACATCTGAATGCTGAGGCCTAGAGATCGTTCAGGGTGTTGTAACTGGGAACATCTGAATGCT
GAGGCCTAGAGATCGTTCAGGGTGTTGTAACTGGGAACATCTGAATGCTGAGGCCTAGAGATCGTTCAGGGTGTTGTAACTGGGAACATC
TGAATGCTGAGGCCTAGAGATCGTTCAGGGTGTTGTAACTGGGAACATCTGAATGCTGAGGCCTAGAGATCGTTCAGGGTGTTGTAACTG
GGAACATCTGAATGCTGAGGCCTAGAGATCGTTCAGGGTGTTGTAACTGGGAACATCTGAATGCTGAGGCTTAGTCCAGTGTTCTCTCTC
CCTTACCACTCCTCTTCCCCTTCCCTCTATAATGGCAGTACCCAGGGCCCGGTCCATAGACTACTATCGAGTGCTCCTATGTGCATCTTA
GTACGTATCATTTTCCCTTGCCTTTTTCCTTCTATCCTTTCAGTGGTAGCAACTGCCCTTGCTAATCACCGTAACCTCGGCTGAGAAAGA
AGAGGAAGCGAAATCCAAGATGCAGCTCAGTTCATCAAAGCCTAGCAGGTCCCCTCAGCTGCCTTTTCATGCCTGCCACAGACTACAGTA
GGACAAAACCTGACCTGGTCTTTGAAGTTAAGAGCTAAGAAAGCTTCCTATAGTAGTATCTCCCATGGCACTTACCACATTCTATCTGGT
ATTACAGTTATTTGTATGCAATTAATCACTCTTAGATTGTATGTTCCTGGAGGGCAGAATATGCCCATTCATATTTGTATCTTCTTCCTT

>71366_71366_2_RAB3GAP2-CNIH4_RAB3GAP2_chr1_220383730_ENST00000358951_CNIH4_chr1_224563497_ENST00000465271_length(amino acids)=211AA_BP=
MACSIVQFCYFQDLQAARDFLFPHLREEILSGALRRDPSKSTDWEDDGWGAWEENEPQEPEEEGNTCKTQKTSWLQDCVLSLSPTNDLMV
IAREQKAVFLVPKWKYSDKGKEEMQFAVGWSGSLNVEEGECVTSALCIPLASQKRSSTGRPDWTCIVVGFTSGYVRFYTENGVLLLAQLL

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Fusion Gene PPI Analysis for RAB3GAP2-CNIH4


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 RAB3GAP2-CNIH4


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 RAB3GAP2-CNIH4


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneRAB3GAP2C3280214WARBURG MICRO SYNDROME 24GENOMICS_ENGLAND
HgeneRAB3GAP2C0796037Martsolf syndrome3CTD_human;GENOMICS_ENGLAND;ORPHANET;UNIPROT
HgeneRAB3GAP2C0037772Spastic Paraplegia1GENOMICS_ENGLAND
HgeneRAB3GAP2C1838625Warburg Sjo Fledelius syndrome1CTD_human;GENOMICS_ENGLAND;ORPHANET