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Center for Computational Systems Medicine
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FusionGeneSummary

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FusionProtFeature

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FusionGeneSequence

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FusionGenePPI

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RelatedDrugs

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RelatedDiseases

Fusion gene ID: 30441

FusionGeneSummary for RAPGEF5_ISPD

check button Fusion gene summary
Fusion gene informationFusion gene name: RAPGEF5_ISPD
Fusion gene ID: 30441
HgeneTgene
Gene symbol

RAPGEF5

ISPD

Gene ID

9771

729920

Gene nameRap guanine nucleotide exchange factor 5isoprenoid synthase domain containing
SynonymsGFR|MR-GEF|REPACMDDGA7|MDDGC7|Nip|hCG_1745121|hISPD
Cytomap

7p15.3

7p21.2

Type of geneprotein-codingprotein-coding
Descriptionrap guanine nucleotide exchange factor 5M-Ras-regulated GEFM-Ras-regulated Rap GEFRap guanine nucleotide exchange factor (GEF) 5guanine nucleotide exchange factor for Rap1related to EpacD-ribitol-5-phosphate cytidylyltransferase2-C-methyl-D-erythritol 4-phosphate cytidylyltransferase-like protein4-diphosphocytidyl-2C-methyl-D-erythritol synthase homolognotch1-induced proteintesticular tissue protein Li 97
Modification date2018051920180523
UniProtAcc

Q92565

A4D126

Ensembl transtripts involved in fusion geneENST00000344041, ENST00000475788, 
ENST00000405243, ENST00000401957, 
ENST00000407010, ENST00000399310, 
ENST00000479493, 
Fusion gene scores* DoF score11 X 11 X 6=7263 X 2 X 3=18
# samples 113
** MAII scorelog2(11/726*10)=-2.72246602447109
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(3/18*10)=0.736965594166206
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
Context

PubMed: RAPGEF5 [Title/Abstract] AND ISPD [Title/Abstract] AND fusion [Title/Abstract]

Functional or gene categories assigned by FusionGDB annotation
* 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 button Fusion gene information from three resources
(ChiTars (NAR, 2018), tumorfusions (NAR, 2018), Gao et al. (Cell, 2018))
* 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.
Data typeSourceCancer typeSampleHgeneHchrHbpHstrandTgeneTchrTbpTstrand
TCGARVSKCMTCGA-EE-A2M7-06ARAPGEF5chr7

22186515

-ISPDchr7

16415866

-
* LD: Li Ding group's fusion gene list
  RV: Roel Verhaak group's fusion gene list
  ChiTaRs fusion database

check button Open reading frame (ORF) analsis of fusion genes based on Ensembl gene isoform structure.
* Click on the break point to see the gene structure around the break point region using the UCSC Genome Browser.
ORFHenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrand
In-frameENST00000344041ENST00000407010RAPGEF5chr7

22186515

-ISPDchr7

16415866

-
5CDS-intronENST00000344041ENST00000399310RAPGEF5chr7

22186515

-ISPDchr7

16415866

-
5CDS-intronENST00000344041ENST00000479493RAPGEF5chr7

22186515

-ISPDchr7

16415866

-
intron-3CDSENST00000475788ENST00000407010RAPGEF5chr7

22186515

-ISPDchr7

16415866

-
intron-intronENST00000475788ENST00000399310RAPGEF5chr7

22186515

-ISPDchr7

16415866

-
intron-intronENST00000475788ENST00000479493RAPGEF5chr7

22186515

-ISPDchr7

16415866

-
intron-3CDSENST00000405243ENST00000407010RAPGEF5chr7

22186515

-ISPDchr7

16415866

-
intron-intronENST00000405243ENST00000399310RAPGEF5chr7

22186515

-ISPDchr7

16415866

-
intron-intronENST00000405243ENST00000479493RAPGEF5chr7

22186515

-ISPDchr7

16415866

-
In-frameENST00000401957ENST00000407010RAPGEF5chr7

22186515

-ISPDchr7

16415866

-
5CDS-intronENST00000401957ENST00000399310RAPGEF5chr7

22186515

-ISPDchr7

16415866

-
5CDS-intronENST00000401957ENST00000479493RAPGEF5chr7

22186515

-ISPDchr7

16415866

-

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FusionProtFeatures for RAPGEF5_ISPD


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
RAPGEF5

Q92565

ISPD

A4D126

Guanine nucleotide exchange factor (GEF) for RAP1A,RAP2A and MRAS/M-Ras-GTP. Its association with MRAS inhibits Rap1activation. {ECO:0000269|PubMed:10777494,ECO:0000269|PubMed:10934204}. Cytidylyltransferase required for protein O-linkedmannosylation (PubMed:26687144, PubMed:27130732, PubMed:27601598,PubMed:22522420, PubMed:22522421). Catalyzes the formation of CDP-ribitol nucleotide sugar from D-ribitol 5-phosphate(PubMed:26687144, PubMed:27130732). CDP-ribitol is a substrate ofFKTN during the biosynthesis of the phosphorylated O-mannosyltrisaccharide (N-acetylgalactosamine-beta-3-N-acetylglucosamine-beta-4-(phosphate-6-)mannose), a carbohydrate structure present inalpha-dystroglycan (DAG1), which is required for binding lamininG-like domain-containing extracellular proteins with high affinity(PubMed:26687144, PubMed:27130732). Shows activity toward otherpentose phosphate sugars and mediates formation of CDP-ribulose orCDP-ribose using CTP and ribulose-5-phosphate or ribose-5-phosphate, respectively (PubMed:26687144). Not Involved indolichol production (PubMed:26687144).{ECO:0000269|PubMed:22522420, ECO:0000269|PubMed:22522421,ECO:0000269|PubMed:26687144, ECO:0000269|PubMed:27130732,ECO:0000269|PubMed:27601598}.

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
HgeneRAPGEF5chr7:22186515chr7:16415866ENST00000401957-91668_201366581DomainN-terminal Ras-GEF

- In-frame and not-retained protein feature among the 13 regional features.
>
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgeneRAPGEF5chr7:22186515chr7:16415866ENST00000401957-916345_579366581DomainRas-GEF


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FusionGeneSequence for RAPGEF5_ISPD


check button For in-frame fusion transcripts, we provide the fusion transcript sequences and fusion amino acid sequences.
(nt: nucleotides, aa: amino acids)

* Fusion amino acid sequences.
>In-frame_RAPGEF5_ENST00000344041_chr7_22186515_-_ISPD_ENST00000407010_chr7_16415866_-_790aa
MAIGVWQLLLDMGIMLSVDQHLYFQDTTVFYQFSSDECSYLYCEFEREEEWQNGVKLLLQLVPLIPARGGICELSHQKIEDSEESSDEIL
VRLTSAVQRELAAVIALKARKSAIEQDEENNDKHVAVTEAESVPDSQAGVMCKLQERDEIGRIELVQKLAKENTQFLQTDKKEQEKSEHQ
DDEVTTVQVKEQDQSVLVLKKVQCCGPAPTAGSAESHWRTVVVSGTPEKILEHLLNDLHLEEVQDKETETLLDDFLLTYTVFMTTDDLCQ
ALLRHTSAKKTQGKEENSDVPRRKRKVLHLVSQWIALYKDWLPEDEHSKMFLKTITRNVLDDVTETPILEKELKEFQKILGMHRRHTVDE
TSPQKKNKALFHQFSLKENWLQHRGTVTETEEIFCHVTITEHSTVSVKAKVSSIAQEILKVVAEKIQTAEEDLALVAITFSGEKHELQPN
DLVISKSLEASGRITVYRKDLADTLNPFAENEESQQRSMRILGMNTWDLALELMNFDWSLFNSIHEAAGAIRPLVSTVVSPSADGCLDYS
LERARHRASEMPQAFLFDVITEATQQCSDTDLEFGTECLQLALKYCCTKAKLVEGSPDLWKVTYKRDLTAAESIIKERISQEICVVMDTE
EDNKHVGHLLEEVLKSELNHVKVTSEALGHAGRHLQQIILDQCYNFVCVNVTTSDFQETQKLLSMLEESSLCILTPVVVVSVHFLDFKLV

>In-frame_RAPGEF5_ENST00000401957_chr7_22186515_-_ISPD_ENST00000407010_chr7_16415866_-_640aa
MGSSRLRVFDPHLERKDSAAALSDRELPLPTFDVPTFKYIDEEDEDDEWSSRSQSSTEDDSVDSLLSDRTVVVSGTPEKILEHLLNDLHL
EEVQDKETETLLDDFLLTYTVFMTTDDLCQALLRHTSAKKTQGKEENSDVPRRKRKVLHLVSQWIALYKDWLPEDEHSKMFLKTITRNVL
DDVTETPILEKELKEFQKILGMHRRHTVDETSPQKKNKALFHQFSLKENWLQHRGTVTETEEIFCHVTITEHSTVSVKAKVSSIAQEILK
VVAEKIQTAEEDLALVAITFSGEKHELQPNDLVISKSLEASGRITVYRKDLADTLNPFAENEESQQRSMRILGMNTWDLALELMNFDWSL
FNSIHEAAGAIRPLVSTVVSPSADGCLDYSLERARHRASEMPQAFLFDVITEATQQCSDTDLEFGTECLQLALKYCCTKAKLVEGSPDLW
KVTYKRDLTAAESIIKERISQEICVVMDTEEDNKHVGHLLEEVLKSELNHVKVTSEALGHAGRHLQQIILDQCYNFVCVNVTTSDFQETQ
KLLSMLEESSLCILTPVVVVSVHFLDFKLVPPSQKMENLMQIREFAKEVKERNILLTGLLISYPQDDQKLQESLRQGAIIIASLIKERNS


* Fusion transcript sequences (only coding sequence (CDS) region).
>In-frame_RAPGEF5_ENST00000344041_chr7_22186515_-_ISPD_ENST00000407010_chr7_16415866_-_2370nt
ATGGCCATAGGAGTCTGGCAACTCCTACTGGACATGGGAATTATGTTATCAGTGGACCAGCATCTATACTTTCAAGATACTTATGTTTTC
TACCAGTTTTCCTCTGATGAATGTAGCTACTTGTACTGTGAATTTGAAAGAGAAGAAGAATGGCAAAATGGTGTCAAGCTTTTACTGCAA
CTTGTGCCTCTCATTCCTGCCAGAGGTGGCATCTGTGAACTGTCTCATCAGAAAATTGAAGACTCCGAAGAAAGCAGTGATGAAATTCTT
GTGCGTCTAACATCTGCGGTGCAGAGAGAGCTAGCAGCTGTTATTGCTTTGAAAGCAAGGAAGTCTGCAATTGAACAAGATGAAGAAAAC
AACGACAAACATGTAGCTGTAACAGAAGCCGAAAGTGTTCCAGATTCTCAGGCAGGGGTGATGTGCAAGCTCCAGGAAAGAGATGAAATC
GGACGAATTGAACTAGTCCAGAAGCTGGCAAAAGAAAACTATCAGTTTTTGCAGACGGACAAAAAAGAACAGGAGAAGTCTGAACACCAA
GATGATGAAGTGACGACTGTTCAGGTTAAAGAGCAAGACCAGAGCGTCCTGGTGCTGAAGAAAGTGCAGTGCTGTGGCCCAGCCCCCACA
GCTGGGAGTGCGGAGAGCCATTGGAGATATGTGGTGGTGTCCGGGACCCCGGAGAAGATTTTGGAGCACCTTTTGAATGACTTGCACCTG
GAAGAAGTCCAGGACAAAGAAACAGAGACCCTCCTGGATGACTTCCTTCTCACGTACACTGTCTTCATGACAACTGATGACTTGTGCCAG
GCTCTGTTAAGGCACTATTCTGCTAAGAAGTATCAAGGCAAAGAGGAAAACTCAGACGTTCCGCGTAGGAAACGTAAAGTCTTGCATCTT
GTTTCCCAGTGGATTGCTCTGTACAAAGACTGGTTACCTGAAGATGAACATTCAAAAATGTTTTTAAAGACCATATATAGGAATGTACTG
GATGATGTTTATGAATATCCAATACTTGAAAAAGAATTGAAAGAATTTCAAAAGATACTTGGAATGCACCGTCGTCACACTGTAGATGAA
TATTCACCACAAAAAAAGAATAAAGCCCTTTTCCACCAATTCAGTCTTAAGGAGAACTGGCTCCAGCATAGAGGAACTGTGACTGAAACG
GAGGAAATTTTCTGCCACGTGTATATAACAGAGCACTCCTATGTCAGTGTGAAGGCAAAAGTTTCCAGTATAGCCCAAGAGATCCTAAAA
GTCGTGGCAGAAAAGATCCAGTATGCAGAAGAGGATCTGGCTCTGGTGGCCATCACATTCTCTGGGGAAAAGCATGAACTTCAGCCAAAT
GACTTAGTCATCTCCAAATCCCTCGAGGCATCTGGTCGAATATATGTCTACCGGAAAGACCTGGCGGACACTTTGAACCCATTTGCAGAA
AATGAGGAATCACAGCAAAGGTCGATGAGGATTTTGGGAATGAACACTTGGGATCTTGCTCTGGAATTAATGAATTTTGATTGGAGTCTA
TTCAATTCAATTCACGAGGCAGCAGGAGCCATTCGACCTCTTGTATCTACTGTCGTCAGTCCATCTGCTGATGGTTGCTTAGACTACTCG
CTAGAACGTGCCAGACACAGAGCAAGTGAAATGCCCCAAGCTTTTCTATTTGATGTGATTTATGAAGCATATCAGCAGTGTAGTGACTAT
GACTTGGAATTTGGAACTGAGTGTTTGCAATTGGCCCTAAAATACTGTTGCACTAAAGCCAAACTTGTAGAAGGATCACCTGACCTCTGG
AAGGTGACCTACAAACGAGATCTCTATGCGGCTGAATCGATTATTAAGGAGAGAATTTCCCAAGAGATTTGTGTAGTTATGGATACAGAA
GAAGATAACAAACATGTAGGTCATCTTCTTGAAGAAGTGCTGAAAAGTGAATTAAATCATGTAAAAGTCACATCTGAGGCTCTGGGTCAT
GCTGGCAGACATCTTCAGCAAATCATCTTAGATCAATGCTACAATTTTGTTTGTGTGAATGTTACAACCTCTGATTTTCAAGAAACCCAG
AAGTTACTGAGCATGCTTGAAGAGAGTAGTCTTTGCATTTTATATCCTGTTGTTGTTGTTTCAGTTCATTTTCTTGATTTTAAATTAGTA
CCTCCCAGTCAGAAAATGGAAAACCTAATGCAGATTAGAGAATTTGCAAAGGAAGTAAAAGAAAGAAATATTTTGTTATATGGGCTTCTC
ATATCTTACCCACAGGATGATCAGAAGCTACAGGAGAGTTTAAGGCAAGGTGCTATCATTATTGCTTCATTAATCAAGGAAAGAAATTCT

>In-frame_RAPGEF5_ENST00000401957_chr7_22186515_-_ISPD_ENST00000407010_chr7_16415866_-_1920nt
ATGGGCAGCTCCCGGCTGAGGGTCTTTGACCCTCATTTGGAGAGGAAAGATTCCGCCGCGGCGCTCTCAGACCGAGAGCTGCCCTTGCCT
ACCTTCGATGTGCCTTATTTCAAATACATCGACGAGGAGGATGAGGACGATGAATGGAGCAGCCGCTCGCAGTCTTCCACCGAGGATGAC
TCAGTGGACTCTCTGCTCTCTGACAGATATGTGGTGGTGTCCGGGACCCCGGAGAAGATTTTGGAGCACCTTTTGAATGACTTGCACCTG
GAAGAAGTCCAGGACAAAGAAACAGAGACCCTCCTGGATGACTTCCTTCTCACGTACACTGTCTTCATGACAACTGATGACTTGTGCCAG
GCTCTGTTAAGGCACTATTCTGCTAAGAAGTATCAAGGCAAAGAGGAAAACTCAGACGTTCCGCGTAGGAAACGTAAAGTCTTGCATCTT
GTTTCCCAGTGGATTGCTCTGTACAAAGACTGGTTACCTGAAGATGAACATTCAAAAATGTTTTTAAAGACCATATATAGGAATGTACTG
GATGATGTTTATGAATATCCAATACTTGAAAAAGAATTGAAAGAATTTCAAAAGATACTTGGAATGCACCGTCGTCACACTGTAGATGAA
TATTCACCACAAAAAAAGAATAAAGCCCTTTTCCACCAATTCAGTCTTAAGGAGAACTGGCTCCAGCATAGAGGAACTGTGACTGAAACG
GAGGAAATTTTCTGCCACGTGTATATAACAGAGCACTCCTATGTCAGTGTGAAGGCAAAAGTTTCCAGTATAGCCCAAGAGATCCTAAAA
GTCGTGGCAGAAAAGATCCAGTATGCAGAAGAGGATCTGGCTCTGGTGGCCATCACATTCTCTGGGGAAAAGCATGAACTTCAGCCAAAT
GACTTAGTCATCTCCAAATCCCTCGAGGCATCTGGTCGAATATATGTCTACCGGAAAGACCTGGCGGACACTTTGAACCCATTTGCAGAA
AATGAGGAATCACAGCAAAGGTCGATGAGGATTTTGGGAATGAACACTTGGGATCTTGCTCTGGAATTAATGAATTTTGATTGGAGTCTA
TTCAATTCAATTCACGAGGCAGCAGGAGCCATTCGACCTCTTGTATCTACTGTCGTCAGTCCATCTGCTGATGGTTGCTTAGACTACTCG
CTAGAACGTGCCAGACACAGAGCAAGTGAAATGCCCCAAGCTTTTCTATTTGATGTGATTTATGAAGCATATCAGCAGTGTAGTGACTAT
GACTTGGAATTTGGAACTGAGTGTTTGCAATTGGCCCTAAAATACTGTTGCACTAAAGCCAAACTTGTAGAAGGATCACCTGACCTCTGG
AAGGTGACCTACAAACGAGATCTCTATGCGGCTGAATCGATTATTAAGGAGAGAATTTCCCAAGAGATTTGTGTAGTTATGGATACAGAA
GAAGATAACAAACATGTAGGTCATCTTCTTGAAGAAGTGCTGAAAAGTGAATTAAATCATGTAAAAGTCACATCTGAGGCTCTGGGTCAT
GCTGGCAGACATCTTCAGCAAATCATCTTAGATCAATGCTACAATTTTGTTTGTGTGAATGTTACAACCTCTGATTTTCAAGAAACCCAG
AAGTTACTGAGCATGCTTGAAGAGAGTAGTCTTTGCATTTTATATCCTGTTGTTGTTGTTTCAGTTCATTTTCTTGATTTTAAATTAGTA
CCTCCCAGTCAGAAAATGGAAAACCTAATGCAGATTAGAGAATTTGCAAAGGAAGTAAAAGAAAGAAATATTTTGTTATATGGGCTTCTC
ATATCTTACCCACAGGATGATCAGAAGCTACAGGAGAGTTTAAGGCAAGGTGCTATCATTATTGCTTCATTAATCAAGGAAAGAAATTCT


* Fusion transcript sequences (Full-length transcript).
>In-frame_RAPGEF5_ENST00000344041_chr7_22186515_-_ISPD_ENST00000407010_chr7_16415866_-_3186nt
GCTGCGGCCGCGGCTGAGGGACCTGCCCGCGCTGCTGCGGAGCGGGCTCACGCTGCGGAGGAAGCGGAGCGCCGCTGGGGGCCGGACTCT
ATCAAGAAGAATATCTAATCCGTACCTTGAACATACGCCTTCCCAGATTTATGGAGAGAATTCTTCTTGTGCAGGAAGAGCATTGAGGAA
TATTATTATCGTTCAAGCAGCTGACCTGATAAAGGACAGAGTGAACCTCAAGGGGTTTTACAGGAGGAGCTGCGTTGGGTCAGAGCTGGT
AGACTGGCTTCTAGAACACTGTCCTTTCGTCCAGTGCAGATCTATGGCCATAGGAGTCTGGCAACTCCTACTGGACATGGGAATTATGTT
ATCAGTGGACCAGCATCTATACTTTCAAGATACTTATGTTTTCTACCAGTTTTCCTCTGATGAATGTAGCTACTTGTACTGTGAATTTGA
AAGAGAAGAAGAATGGCAAAATGGTGTCAAGCTTTTACTGCAACTTGTGCCTCTCATTCCTGCCAGAGGTGGCATCTGTGAACTGTCTCA
TCAGAAAATTGAAGACTCCGAAGAAAGCAGTGATGAAATTCTTGTGCGTCTAACATCTGCGGTGCAGAGAGAGCTAGCAGCTGTTATTGC
TTTGAAAGCAAGGAAGTCTGCAATTGAACAAGATGAAGAAAACAACGACAAACATGTAGCTGTAACAGAAGCCGAAAGTGTTCCAGATTC
TCAGGCAGGGGTGATGTGCAAGCTCCAGGAAAGAGATGAAATCGGACGAATTGAACTAGTCCAGAAGCTGGCAAAAGAAAACTATCAGTT
TTTGCAGACGGACAAAAAAGAACAGGAGAAGTCTGAACACCAAGATGATGAAGTGACGACTGTTCAGGTTAAAGAGCAAGACCAGAGCGT
CCTGGTGCTGAAGAAAGTGCAGTGCTGTGGCCCAGCCCCCACAGCTGGGAGTGCGGAGAGCCATTGGAGATATGTGGTGGTGTCCGGGAC
CCCGGAGAAGATTTTGGAGCACCTTTTGAATGACTTGCACCTGGAAGAAGTCCAGGACAAAGAAACAGAGACCCTCCTGGATGACTTCCT
TCTCACGTACACTGTCTTCATGACAACTGATGACTTGTGCCAGGCTCTGTTAAGGCACTATTCTGCTAAGAAGTATCAAGGCAAAGAGGA
AAACTCAGACGTTCCGCGTAGGAAACGTAAAGTCTTGCATCTTGTTTCCCAGTGGATTGCTCTGTACAAAGACTGGTTACCTGAAGATGA
ACATTCAAAAATGTTTTTAAAGACCATATATAGGAATGTACTGGATGATGTTTATGAATATCCAATACTTGAAAAAGAATTGAAAGAATT
TCAAAAGATACTTGGAATGCACCGTCGTCACACTGTAGATGAATATTCACCACAAAAAAAGAATAAAGCCCTTTTCCACCAATTCAGTCT
TAAGGAGAACTGGCTCCAGCATAGAGGAACTGTGACTGAAACGGAGGAAATTTTCTGCCACGTGTATATAACAGAGCACTCCTATGTCAG
TGTGAAGGCAAAAGTTTCCAGTATAGCCCAAGAGATCCTAAAAGTCGTGGCAGAAAAGATCCAGTATGCAGAAGAGGATCTGGCTCTGGT
GGCCATCACATTCTCTGGGGAAAAGCATGAACTTCAGCCAAATGACTTAGTCATCTCCAAATCCCTCGAGGCATCTGGTCGAATATATGT
CTACCGGAAAGACCTGGCGGACACTTTGAACCCATTTGCAGAAAATGAGGAATCACAGCAAAGGTCGATGAGGATTTTGGGAATGAACAC
TTGGGATCTTGCTCTGGAATTAATGAATTTTGATTGGAGTCTATTCAATTCAATTCACGAGGCAGCAGGAGCCATTCGACCTCTTGTATC
TACTGTCGTCAGTCCATCTGCTGATGGTTGCTTAGACTACTCGCTAGAACGTGCCAGACACAGAGCAAGTGAAATGCCCCAAGCTTTTCT
ATTTGATGTGATTTATGAAGCATATCAGCAGTGTAGTGACTATGACTTGGAATTTGGAACTGAGTGTTTGCAATTGGCCCTAAAATACTG
TTGCACTAAAGCCAAACTTGTAGAAGGATCACCTGACCTCTGGAAGGTGACCTACAAACGAGATCTCTATGCGGCTGAATCGATTATTAA
GGAGAGAATTTCCCAAGAGATTTGTGTAGTTATGGATACAGAAGAAGATAACAAACATGTAGGTCATCTTCTTGAAGAAGTGCTGAAAAG
TGAATTAAATCATGTAAAAGTCACATCTGAGGCTCTGGGTCATGCTGGCAGACATCTTCAGCAAATCATCTTAGATCAATGCTACAATTT
TGTTTGTGTGAATGTTACAACCTCTGATTTTCAAGAAACCCAGAAGTTACTGAGCATGCTTGAAGAGAGTAGTCTTTGCATTTTATATCC
TGTTGTTGTTGTTTCAGTTCATTTTCTTGATTTTAAATTAGTACCTCCCAGTCAGAAAATGGAAAACCTAATGCAGATTAGAGAATTTGC
AAAGGAAGTAAAAGAAAGAAATATTTTGTTATATGGGCTTCTCATATCTTACCCACAGGATGATCAGAAGCTACAGGAGAGTTTAAGGCA
AGGTGCTATCATTATTGCTTCATTAATCAAGGAAAGAAATTCTGGACTCATTGGTCAGCTTCTGATAGCATGAAGAACACAAAAAATTAC
CTATTTTCTAAAACATCTATTTGCGTATCTTAATTGTGCTTTGTGCCCCCGCTGCTGTGTGTGGTAGAATGTTTCAGTTGTCTTTTATAT
CTTCTCTATAATTTGTAGGATGTGATGCTTAGATTATAAAGCAGATTAATGTTTATATCTGTGAAATAAAGAATACTTTTGTGTATGACA
AATATTAATTGCCTGAACCAGAAAAAAATAGTAGATAAGTGGAAAATAATAGCCTTCAAATGAATCTTTCCACAGAGACATGAACGGTCA
AATAGAAATAATGATGGGGTGAGCTATTCTTTCAAGGAATGAGAATTTAGAAAACTTCAGTTATTATCCTAACTGTTAATTAATAATTTA
CACTATTATGAAGCTAATGGATAAACTTCAGAATTATTCTCACTTCTATAATTGTCCTGTCACCAGGTGATATTTTGTCTTTTTGTCTTG

>In-frame_RAPGEF5_ENST00000401957_chr7_22186515_-_ISPD_ENST00000407010_chr7_16415866_-_2671nt
AGTTTCCCTGCAGCCACAGAGGCACGCGCTCCCGTTTCCTTTTCCCTGCCTGCCTTCCCTTCCCTTGCTCCATCTCACTCGCTCTCTGCC
TCCTCTACCCTCCCTCCCTCTCTTTTCTCTCCGCCTCTCCAGCGTTCTAGCTGACTGCAGAGCTCTTAGCAGCCAGATGGACTCAGTTCC
CAGTGAAAGGACAGGGATGGCAAGATCTTTTAGCATTTAGGGGATGCCTTTGTTAGTAACCGTTCACAATGGGCAGCTCCCGGCTGAGGG
TCTTTGACCCTCATTTGGAGAGGAAAGATTCCGCCGCGGCGCTCTCAGACCGAGAGCTGCCCTTGCCTACCTTCGATGTGCCTTATTTCA
AATACATCGACGAGGAGGATGAGGACGATGAATGGAGCAGCCGCTCGCAGTCTTCCACCGAGGATGACTCAGTGGACTCTCTGCTCTCTG
ACAGATATGTGGTGGTGTCCGGGACCCCGGAGAAGATTTTGGAGCACCTTTTGAATGACTTGCACCTGGAAGAAGTCCAGGACAAAGAAA
CAGAGACCCTCCTGGATGACTTCCTTCTCACGTACACTGTCTTCATGACAACTGATGACTTGTGCCAGGCTCTGTTAAGGCACTATTCTG
CTAAGAAGTATCAAGGCAAAGAGGAAAACTCAGACGTTCCGCGTAGGAAACGTAAAGTCTTGCATCTTGTTTCCCAGTGGATTGCTCTGT
ACAAAGACTGGTTACCTGAAGATGAACATTCAAAAATGTTTTTAAAGACCATATATAGGAATGTACTGGATGATGTTTATGAATATCCAA
TACTTGAAAAAGAATTGAAAGAATTTCAAAAGATACTTGGAATGCACCGTCGTCACACTGTAGATGAATATTCACCACAAAAAAAGAATA
AAGCCCTTTTCCACCAATTCAGTCTTAAGGAGAACTGGCTCCAGCATAGAGGAACTGTGACTGAAACGGAGGAAATTTTCTGCCACGTGT
ATATAACAGAGCACTCCTATGTCAGTGTGAAGGCAAAAGTTTCCAGTATAGCCCAAGAGATCCTAAAAGTCGTGGCAGAAAAGATCCAGT
ATGCAGAAGAGGATCTGGCTCTGGTGGCCATCACATTCTCTGGGGAAAAGCATGAACTTCAGCCAAATGACTTAGTCATCTCCAAATCCC
TCGAGGCATCTGGTCGAATATATGTCTACCGGAAAGACCTGGCGGACACTTTGAACCCATTTGCAGAAAATGAGGAATCACAGCAAAGGT
CGATGAGGATTTTGGGAATGAACACTTGGGATCTTGCTCTGGAATTAATGAATTTTGATTGGAGTCTATTCAATTCAATTCACGAGGCAG
CAGGAGCCATTCGACCTCTTGTATCTACTGTCGTCAGTCCATCTGCTGATGGTTGCTTAGACTACTCGCTAGAACGTGCCAGACACAGAG
CAAGTGAAATGCCCCAAGCTTTTCTATTTGATGTGATTTATGAAGCATATCAGCAGTGTAGTGACTATGACTTGGAATTTGGAACTGAGT
GTTTGCAATTGGCCCTAAAATACTGTTGCACTAAAGCCAAACTTGTAGAAGGATCACCTGACCTCTGGAAGGTGACCTACAAACGAGATC
TCTATGCGGCTGAATCGATTATTAAGGAGAGAATTTCCCAAGAGATTTGTGTAGTTATGGATACAGAAGAAGATAACAAACATGTAGGTC
ATCTTCTTGAAGAAGTGCTGAAAAGTGAATTAAATCATGTAAAAGTCACATCTGAGGCTCTGGGTCATGCTGGCAGACATCTTCAGCAAA
TCATCTTAGATCAATGCTACAATTTTGTTTGTGTGAATGTTACAACCTCTGATTTTCAAGAAACCCAGAAGTTACTGAGCATGCTTGAAG
AGAGTAGTCTTTGCATTTTATATCCTGTTGTTGTTGTTTCAGTTCATTTTCTTGATTTTAAATTAGTACCTCCCAGTCAGAAAATGGAAA
ACCTAATGCAGATTAGAGAATTTGCAAAGGAAGTAAAAGAAAGAAATATTTTGTTATATGGGCTTCTCATATCTTACCCACAGGATGATC
AGAAGCTACAGGAGAGTTTAAGGCAAGGTGCTATCATTATTGCTTCATTAATCAAGGAAAGAAATTCTGGACTCATTGGTCAGCTTCTGA
TAGCATGAAGAACACAAAAAATTACCTATTTTCTAAAACATCTATTTGCGTATCTTAATTGTGCTTTGTGCCCCCGCTGCTGTGTGTGGT
AGAATGTTTCAGTTGTCTTTTATATCTTCTCTATAATTTGTAGGATGTGATGCTTAGATTATAAAGCAGATTAATGTTTATATCTGTGAA
ATAAAGAATACTTTTGTGTATGACAAATATTAATTGCCTGAACCAGAAAAAAATAGTAGATAAGTGGAAAATAATAGCCTTCAAATGAAT
CTTTCCACAGAGACATGAACGGTCAAATAGAAATAATGATGGGGTGAGCTATTCTTTCAAGGAATGAGAATTTAGAAAACTTCAGTTATT
ATCCTAACTGTTAATTAATAATTTACACTATTATGAAGCTAATGGATAAACTTCAGAATTATTCTCACTTCTATAATTGTCCTGTCACCA


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FusionGenePPI for RAPGEF5_ISPD


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
RAPGEF5RAP2A, RAP1A, MRAS, KCND3, PLAC9, VANGL1, TMEM253, ANK3, ANK1, MAPK8IP2, ANK2, DDHD2, TUBB1, HSP90AA4P, CCDC88A, UBB, HERC1, PPFIBP1, RICTOR, PLEC, ZNHIT2, WNK1, PRKAR1B, PPP2R5D, PRKACB, PIK3CB, FLNC, ATP2B2ISPD


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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RelatedDrugs for RAPGEF5_ISPD


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.0 2018-04-02)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status

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RelatedDiseases for RAPGEF5_ISPD


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneRAPGEF5C0005586Bipolar Disorder1PSYGENET
HgeneRAPGEF5C0033975Psychotic Disorders1PSYGENET
HgeneRAPGEF5C0036341Schizophrenia1PSYGENET
HgeneRAPGEF5C0041696Unipolar Depression1PSYGENET
HgeneRAPGEF5C0236733Amphetamine-Related Disorders1CTD_human
HgeneRAPGEF5C0349204Nonorganic psychosis1PSYGENET
HgeneRAPGEF5C1269683Major Depressive Disorder1PSYGENET
TgeneISPDC0265221Walker-Warburg congenital muscular dystrophy2CTD_human;ORPHANET
TgeneISPDC3553330MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 72UNIPROT
TgeneISPDC0015393Eye Abnormalities1CTD_human
TgeneISPDC0020255Hydrocephalus1CTD_human
TgeneISPDC0026848Myopathy1CTD_human
TgeneISPDC4015095MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 71ORPHANET;UNIPROT