UTHEALTH HOME    ABOUT SBMI    A-Z    WEBMAIL    INSIDE THE UNIVERSITY
FusionGDB Logo

Home

Download

Statistics

Examples

Help

Contact

Terms of Use

Center for Computational Systems Medicine level1
leaf

Fusion Gene Summary

leaf

Fusion Gene Sample Information

leaf

Fusion ORF Analysis

leaf

Fusion Amino Acid Sequences

leaf

Fusion Protein Functional Features

leaf

Fusion Protein-Protein Interaction

leaf

Related drugs with this fusion protein

leaf

Related disease with this fusion protein

Fusion Protein:GAK-PLEKHG2

Fusion Protein Summary

check button Fusion gene summary
Fusion partner gene informationFusion gene name: GAK-PLEKHG2
FusionPDB ID: 32177
FusionGDB2.0 ID: 32177
HgeneTgene
Gene symbol

GAK

PLEKHG2

Gene ID

2580

64857

Gene namecyclin G associated kinasepleckstrin homology and RhoGEF domain containing G2
SynonymsDNAJ26|DNAJC26ARHGEF42|CLG|CTB-60E11.4|LDAMD
Cytomap

4p16.3

19q13.2

Type of geneprotein-codingprotein-coding
Descriptioncyclin-G-associated kinaseauxilin-2pleckstrin homology domain-containing family G member 2PH domain-containing family G member 2common-site lymphoma/leukemia guanine nucleotide exchange factorpleckstrin homology domain containing, family G (with RhoGef domain) member 2
Modification date2020031320200313
UniProtAcc

O14976

.
Ensembl transtripts involved in fusion geneENST idsENST00000314167, ENST00000511163, 
ENST00000509566, 
ENST00000378550, 
ENST00000409794, ENST00000409797, 
ENST00000425673, ENST00000458508, 
Fusion gene scores for assessment (based on all fusion genes of FusionGDB 2.0)* DoF score16 X 17 X 8=21765 X 5 X 3=75
# samples 185
** MAII scorelog2(18/2176*10)=-3.59560974492067
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(5/75*10)=-0.584962500721156
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context (manual curation of fusion genes in FusionPDB)

PubMed: GAK [Title/Abstract] AND PLEKHG2 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpoint (based on all fusion genes of FusionGDB 2.0)GAK(891821)-PLEKHG2(39912755), # samples:1
Anticipated loss of major functional domain due to fusion event.GAK-PLEKHG2 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.
GAK-PLEKHG2 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.
GAK-PLEKHG2 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.
GAK-PLEKHG2 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
HgeneGAK

GO:0010977

negative regulation of neuron projection development

24510904


check buttonFusion gene breakpoints across GAK (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 PLEKHG2 (3'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.
all structure


Top

Fusion Gene Sample Information

check buttonFusion gene information from FusionGDB2.0.
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-CancerTCGA-HU-A4GC-11AGAKchr4

891821

-PLEKHG2chr19

39912755

+


Top

Fusion ORF Analysis


check buttonFusion information from ORFfinder translation from full-length transcript sequence from FusionPDB.
HenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrandSeq length
(transcript)
BP loci
(transcript)
Predicted start
(transcript)
Predicted stop
(transcript)
Seq length
(amino acids)
ENST00000314167GAKchr4891821-ENST00000409794PLEKHG2chr1939912755+364076211134191102
ENST00000314167GAKchr4891821-ENST00000378550PLEKHG2chr1939912755+993762111992293
ENST00000314167GAKchr4891821-ENST00000425673PLEKHG2chr1939912755+654076211134191102
ENST00000314167GAKchr4891821-ENST00000458508PLEKHG2chr1939912755+320876211131491012
ENST00000314167GAKchr4891821-ENST00000409797PLEKHG2chr1939912755+1215762111992293
ENST00000511163GAKchr4891821-ENST00000409794PLEKHG2chr1939912755+347860018632571023
ENST00000511163GAKchr4891821-ENST00000378550PLEKHG2chr1939912755+831600186830214
ENST00000511163GAKchr4891821-ENST00000425673PLEKHG2chr1939912755+637860018632571023
ENST00000511163GAKchr4891821-ENST00000458508PLEKHG2chr1939912755+30466001862987933
ENST00000511163GAKchr4891821-ENST00000409797PLEKHG2chr1939912755+1053600186830214

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
ENST00000314167ENST00000409794GAKchr4891821-PLEKHG2chr1939912755+0.00485150.9951485
ENST00000314167ENST00000378550GAKchr4891821-PLEKHG2chr1939912755+0.0067509140.99324906
ENST00000314167ENST00000425673GAKchr4891821-PLEKHG2chr1939912755+0.0022872140.99771273
ENST00000314167ENST00000458508GAKchr4891821-PLEKHG2chr1939912755+0.0053780320.994622
ENST00000314167ENST00000409797GAKchr4891821-PLEKHG2chr1939912755+0.0047533010.9952467
ENST00000511163ENST00000409794GAKchr4891821-PLEKHG2chr1939912755+0.0058760140.994124
ENST00000511163ENST00000378550GAKchr4891821-PLEKHG2chr1939912755+0.0124414770.9875585
ENST00000511163ENST00000425673GAKchr4891821-PLEKHG2chr1939912755+0.0029495610.9970504
ENST00000511163ENST00000458508GAKchr4891821-PLEKHG2chr1939912755+0.0068408970.9931591
ENST00000511163ENST00000409797GAKchr4891821-PLEKHG2chr1939912755+0.0078146690.9921853

Top

Fusion Amino Acid Sequences


check button For individual full-length fusion transcript sequence from FusionPDB, we ran ORFfinder and chose the longest ORF among the all predicted ones.
>FusionGDB ID_FusionGDB isoform ID_FGname_Hgene_Hchr_Hbp_Henst_Tgene_Tchr_Tbp_Tenst_length(fusion AA) seq_BP

>32177_32177_1_GAK-PLEKHG2_GAK_chr4_891821_ENST00000314167_PLEKHG2_chr19_39912755_ENST00000378550_length(amino acids)=293AA_BP=217
MSLLQSALDFLAGPGSLGGASGRDQSDFVGQTVELGELRLRVRRVLAEGGFAFVYEAQDVGSGREYALKRLLSNEEEKNRAIIQEVCFMK
KLSGHPNIVQFCSAASIGKEESDTGQAEFLLLTELCKGQLVEFLKKMESRGPLSCDTVLKIFYQTCRAVQHMHRQKPPIIHRDLKVENLL
LSNQGTIKLCDFGSATTISHYPDYSWSAQRRALVEEEHAGSEGELYPPESQPPVSGSAPPEDLEDAGPPTLDPSGTSITEEILELLNQRG

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

>32177_32177_2_GAK-PLEKHG2_GAK_chr4_891821_ENST00000314167_PLEKHG2_chr19_39912755_ENST00000409794_length(amino acids)=1102AA_BP=217
MSLLQSALDFLAGPGSLGGASGRDQSDFVGQTVELGELRLRVRRVLAEGGFAFVYEAQDVGSGREYALKRLLSNEEEKNRAIIQEVCFMK
KLSGHPNIVQFCSAASIGKEESDTGQAEFLLLTELCKGQLVEFLKKMESRGPLSCDTVLKIFYQTCRAVQHMHRQKPPIIHRDLKVENLL
LSNQGTIKLCDFGSATTISHYPDYSWSAQRRALVEEEHAGSEGELYPPESQPPVSGSAPPEDLEDAGPPTLDPSGTSITEEILELLNQRG
LRDPGPSTHDIPKFPGDSQVPGDSETLTFQALPSRDSSEEEEEEEEGLEMDERGPSPLHVLEGLESSIAAEMPSIPCLTKIPDVPNLPEI
PSRCEIPEGSRLPSLSDISDVFEMPCLPAIPSVPNTPSLSSTPTLSCDSWLQGPLQEPAEAPATRRELFSGSNPGKLGEPPSGGKAGPEE
DEEGVSFTDFQPQDVTQHQGFPDELAFRSCSEIRSAWQALEQGQLARPGFPEPLLILEDSDLGGDSGSGKAGAPSSERTASRVRELARLY
SERIQQMQRAETRASANAPRRRPRVLAQPQPSPCLPQEQAEPGLLPAFGHVLVCELAFPLTCAQESVPLGPAVWVQAAIPLSKQGGSPDG
QGLHVSNLPKQDLPGIHVSAATLLPEQGGSRHVQAPAATPLPKQEGPLHLQVPALTTFSDQGHPEIQVPATTPLPEHRSHMVIPAPSTAF
CPEQGHCADIHVPTTPALPKEICSDFTVSVTTPVPKQEGHLDSESPTNIPLTKQGGSRDVQGPDPVCSQPIQPLSWHGSSLDPQGPGDTL
PPLPCHLPDLQIPGTSPLPAHGSHLDHRIPANAPLSLSQELPDTQVPATTPLPLPQVLTDIWVQALPTSPKQGSLPDIQGPAAAPPLPEP
SLTDTQVQKLTPSLEQKSLIDAHVPAATPLPERGGSLDIQGLSPTPVQTTMVLSKPGGSLASHVARLESSDLTPPHSPPPSSRQLLGPNA
AALSRYLAASYISQSLARRQGPGGGAPAASRGSWSSAPTSRASSPPPQPQPPPPPARRLSYATTVNIHVGGGGRLRPAKAQVRLNHPALL

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

>32177_32177_3_GAK-PLEKHG2_GAK_chr4_891821_ENST00000314167_PLEKHG2_chr19_39912755_ENST00000409797_length(amino acids)=293AA_BP=217
MSLLQSALDFLAGPGSLGGASGRDQSDFVGQTVELGELRLRVRRVLAEGGFAFVYEAQDVGSGREYALKRLLSNEEEKNRAIIQEVCFMK
KLSGHPNIVQFCSAASIGKEESDTGQAEFLLLTELCKGQLVEFLKKMESRGPLSCDTVLKIFYQTCRAVQHMHRQKPPIIHRDLKVENLL
LSNQGTIKLCDFGSATTISHYPDYSWSAQRRALVEEEHAGSEGELYPPESQPPVSGSAPPEDLEDAGPPTLDPSGTSITEEILELLNQRG

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

>32177_32177_4_GAK-PLEKHG2_GAK_chr4_891821_ENST00000314167_PLEKHG2_chr19_39912755_ENST00000425673_length(amino acids)=1102AA_BP=217
MSLLQSALDFLAGPGSLGGASGRDQSDFVGQTVELGELRLRVRRVLAEGGFAFVYEAQDVGSGREYALKRLLSNEEEKNRAIIQEVCFMK
KLSGHPNIVQFCSAASIGKEESDTGQAEFLLLTELCKGQLVEFLKKMESRGPLSCDTVLKIFYQTCRAVQHMHRQKPPIIHRDLKVENLL
LSNQGTIKLCDFGSATTISHYPDYSWSAQRRALVEEEHAGSEGELYPPESQPPVSGSAPPEDLEDAGPPTLDPSGTSITEEILELLNQRG
LRDPGPSTHDIPKFPGDSQVPGDSETLTFQALPSRDSSEEEEEEEEGLEMDERGPSPLHVLEGLESSIAAEMPSIPCLTKIPDVPNLPEI
PSRCEIPEGSRLPSLSDISDVFEMPCLPAIPSVPNTPSLSSTPTLSCDSWLQGPLQEPAEAPATRRELFSGSNPGKLGEPPSGGKAGPEE
DEEGVSFTDFQPQDVTQHQGFPDELAFRSCSEIRSAWQALEQGQLARPGFPEPLLILEDSDLGGDSGSGKAGAPSSERTASRVRELARLY
SERIQQMQRAETRASANAPRRRPRVLAQPQPSPCLPQEQAEPGLLPAFGHVLVCELAFPLTCAQESVPLGPAVWVQAAIPLSKQGGSPDG
QGLHVSNLPKQDLPGIHVSAATLLPEQGGSRHVQAPAATPLPKQEGPLHLQVPALTTFSDQGHPEIQVPATTPLPEHRSHMVIPAPSTAF
CPEQGHCADIHVPTTPALPKEICSDFTVSVTTPVPKQEGHLDSESPTNIPLTKQGGSRDVQGPDPVCSQPIQPLSWHGSSLDPQGPGDTL
PPLPCHLPDLQIPGTSPLPAHGSHLDHRIPANAPLSLSQELPDTQVPATTPLPLPQVLTDIWVQALPTSPKQGSLPDIQGPAAAPPLPEP
SLTDTQVQKLTPSLEQKSLIDAHVPAATPLPERGGSLDIQGLSPTPVQTTMVLSKPGGSLASHVARLESSDLTPPHSPPPSSRQLLGPNA
AALSRYLAASYISQSLARRQGPGGGAPAASRGSWSSAPTSRASSPPPQPQPPPPPARRLSYATTVNIHVGGGGRLRPAKAQVRLNHPALL

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

>32177_32177_5_GAK-PLEKHG2_GAK_chr4_891821_ENST00000314167_PLEKHG2_chr19_39912755_ENST00000458508_length(amino acids)=1012AA_BP=217
MSLLQSALDFLAGPGSLGGASGRDQSDFVGQTVELGELRLRVRRVLAEGGFAFVYEAQDVGSGREYALKRLLSNEEEKNRAIIQEVCFMK
KLSGHPNIVQFCSAASIGKEESDTGQAEFLLLTELCKGQLVEFLKKMESRGPLSCDTVLKIFYQTCRAVQHMHRQKPPIIHRDLKVENLL
LSNQGTIKLCDFGSATTISHYPDYSWSAQRRALVEEEHAGSEGELYPPESQPPVSGSAPPEDLEDAGPPTLDPSGTSITEEILELLNQRG
LRDPGPSTHDIPKFPGDSQVPGDSETLTFQALPSRDSSEEEEEEEEGLEMDERGPSPLHVLEGLESSIAAEMPSIPCLTKIPDVPNLPEI
PSRCEIPEGSRLPSLSDISDVFEMPCLPAIPSVPNTPSLSSTPTLSCDSWLQGPLQEPAEAPATRRELFSGSNPGKLGEPPSGGKAGPEE
DEEGVSFTDFQPQDVTQHQGFPDELAFRSCSEIRSAWQALEQGQLARPGFPEPLLILEDSDLGGDSGSGKAGAPSSERTASRVRELARLY
SERIQQMQRAETRASANAPRRRPRVLAQPQPSPCLPQEQAEPGLLPAFGHVLVCELAFPLTCAQESVPLGPAVWVQAAIPLSKQGGSPDG
QGLHVSNLPKQDLPGIHVSAATLLPEQGGSRHVQAPAATPLPKQEGPLHLQVPALTTFSDQGHPEIQVPATTPLPEHRSHMVIPAPSTAF
CPEQGHCADIHVPTTPALPKEICSDFTVSVTTPVPKQEGHLDSESPTNIPLTKQGGSRDVQGPDPVCSQPIQPLSWHGSSLDPQGPGDTL
PPLPCHLPDLQIPGTSPLPAHGSHLDHRIPANAPLSLSQELPDTQVPATTPLPLPQVLTDIWVQALPTSPKQGSLPDIQGPAAAPPLPEP
SLTDTQVQKLTPSLEQKSLIDAHVPAATPLPERGGSLDIQGLSPTPVQTTMVLSKPGGSLASHVARNLWAFTGPRGLLMPPSTCEPGHEA

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

>32177_32177_6_GAK-PLEKHG2_GAK_chr4_891821_ENST00000511163_PLEKHG2_chr19_39912755_ENST00000378550_length(amino acids)=214AA_BP=138
MSLLQSALDFLAGPGSLGGASGRDQSDFVGQTVELGELRLRVRRVLAEGQLVEFLKKMESRGPLSCDTVLKIFYQTCRAVQHMHRQKPPI
IHRDLKVENLLLSNQGTIKLCDFGSATTISHYPDYSWSAQRRALVEEEHAGSEGELYPPESQPPVSGSAPPEDLEDAGPPTLDPSGTSIT

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

>32177_32177_7_GAK-PLEKHG2_GAK_chr4_891821_ENST00000511163_PLEKHG2_chr19_39912755_ENST00000409794_length(amino acids)=1023AA_BP=138
MSLLQSALDFLAGPGSLGGASGRDQSDFVGQTVELGELRLRVRRVLAEGQLVEFLKKMESRGPLSCDTVLKIFYQTCRAVQHMHRQKPPI
IHRDLKVENLLLSNQGTIKLCDFGSATTISHYPDYSWSAQRRALVEEEHAGSEGELYPPESQPPVSGSAPPEDLEDAGPPTLDPSGTSIT
EEILELLNQRGLRDPGPSTHDIPKFPGDSQVPGDSETLTFQALPSRDSSEEEEEEEEGLEMDERGPSPLHVLEGLESSIAAEMPSIPCLT
KIPDVPNLPEIPSRCEIPEGSRLPSLSDISDVFEMPCLPAIPSVPNTPSLSSTPTLSCDSWLQGPLQEPAEAPATRRELFSGSNPGKLGE
PPSGGKAGPEEDEEGVSFTDFQPQDVTQHQGFPDELAFRSCSEIRSAWQALEQGQLARPGFPEPLLILEDSDLGGDSGSGKAGAPSSERT
ASRVRELARLYSERIQQMQRAETRASANAPRRRPRVLAQPQPSPCLPQEQAEPGLLPAFGHVLVCELAFPLTCAQESVPLGPAVWVQAAI
PLSKQGGSPDGQGLHVSNLPKQDLPGIHVSAATLLPEQGGSRHVQAPAATPLPKQEGPLHLQVPALTTFSDQGHPEIQVPATTPLPEHRS
HMVIPAPSTAFCPEQGHCADIHVPTTPALPKEICSDFTVSVTTPVPKQEGHLDSESPTNIPLTKQGGSRDVQGPDPVCSQPIQPLSWHGS
SLDPQGPGDTLPPLPCHLPDLQIPGTSPLPAHGSHLDHRIPANAPLSLSQELPDTQVPATTPLPLPQVLTDIWVQALPTSPKQGSLPDIQ
GPAAAPPLPEPSLTDTQVQKLTPSLEQKSLIDAHVPAATPLPERGGSLDIQGLSPTPVQTTMVLSKPGGSLASHVARLESSDLTPPHSPP
PSSRQLLGPNAAALSRYLAASYISQSLARRQGPGGGAPAASRGSWSSAPTSRASSPPPQPQPPPPPARRLSYATTVNIHVGGGGRLRPAK

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

>32177_32177_8_GAK-PLEKHG2_GAK_chr4_891821_ENST00000511163_PLEKHG2_chr19_39912755_ENST00000409797_length(amino acids)=214AA_BP=138
MSLLQSALDFLAGPGSLGGASGRDQSDFVGQTVELGELRLRVRRVLAEGQLVEFLKKMESRGPLSCDTVLKIFYQTCRAVQHMHRQKPPI
IHRDLKVENLLLSNQGTIKLCDFGSATTISHYPDYSWSAQRRALVEEEHAGSEGELYPPESQPPVSGSAPPEDLEDAGPPTLDPSGTSIT

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

>32177_32177_9_GAK-PLEKHG2_GAK_chr4_891821_ENST00000511163_PLEKHG2_chr19_39912755_ENST00000425673_length(amino acids)=1023AA_BP=138
MSLLQSALDFLAGPGSLGGASGRDQSDFVGQTVELGELRLRVRRVLAEGQLVEFLKKMESRGPLSCDTVLKIFYQTCRAVQHMHRQKPPI
IHRDLKVENLLLSNQGTIKLCDFGSATTISHYPDYSWSAQRRALVEEEHAGSEGELYPPESQPPVSGSAPPEDLEDAGPPTLDPSGTSIT
EEILELLNQRGLRDPGPSTHDIPKFPGDSQVPGDSETLTFQALPSRDSSEEEEEEEEGLEMDERGPSPLHVLEGLESSIAAEMPSIPCLT
KIPDVPNLPEIPSRCEIPEGSRLPSLSDISDVFEMPCLPAIPSVPNTPSLSSTPTLSCDSWLQGPLQEPAEAPATRRELFSGSNPGKLGE
PPSGGKAGPEEDEEGVSFTDFQPQDVTQHQGFPDELAFRSCSEIRSAWQALEQGQLARPGFPEPLLILEDSDLGGDSGSGKAGAPSSERT
ASRVRELARLYSERIQQMQRAETRASANAPRRRPRVLAQPQPSPCLPQEQAEPGLLPAFGHVLVCELAFPLTCAQESVPLGPAVWVQAAI
PLSKQGGSPDGQGLHVSNLPKQDLPGIHVSAATLLPEQGGSRHVQAPAATPLPKQEGPLHLQVPALTTFSDQGHPEIQVPATTPLPEHRS
HMVIPAPSTAFCPEQGHCADIHVPTTPALPKEICSDFTVSVTTPVPKQEGHLDSESPTNIPLTKQGGSRDVQGPDPVCSQPIQPLSWHGS
SLDPQGPGDTLPPLPCHLPDLQIPGTSPLPAHGSHLDHRIPANAPLSLSQELPDTQVPATTPLPLPQVLTDIWVQALPTSPKQGSLPDIQ
GPAAAPPLPEPSLTDTQVQKLTPSLEQKSLIDAHVPAATPLPERGGSLDIQGLSPTPVQTTMVLSKPGGSLASHVARLESSDLTPPHSPP
PSSRQLLGPNAAALSRYLAASYISQSLARRQGPGGGAPAASRGSWSSAPTSRASSPPPQPQPPPPPARRLSYATTVNIHVGGGGRLRPAK

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

>32177_32177_10_GAK-PLEKHG2_GAK_chr4_891821_ENST00000511163_PLEKHG2_chr19_39912755_ENST00000458508_length(amino acids)=933AA_BP=138
MSLLQSALDFLAGPGSLGGASGRDQSDFVGQTVELGELRLRVRRVLAEGQLVEFLKKMESRGPLSCDTVLKIFYQTCRAVQHMHRQKPPI
IHRDLKVENLLLSNQGTIKLCDFGSATTISHYPDYSWSAQRRALVEEEHAGSEGELYPPESQPPVSGSAPPEDLEDAGPPTLDPSGTSIT
EEILELLNQRGLRDPGPSTHDIPKFPGDSQVPGDSETLTFQALPSRDSSEEEEEEEEGLEMDERGPSPLHVLEGLESSIAAEMPSIPCLT
KIPDVPNLPEIPSRCEIPEGSRLPSLSDISDVFEMPCLPAIPSVPNTPSLSSTPTLSCDSWLQGPLQEPAEAPATRRELFSGSNPGKLGE
PPSGGKAGPEEDEEGVSFTDFQPQDVTQHQGFPDELAFRSCSEIRSAWQALEQGQLARPGFPEPLLILEDSDLGGDSGSGKAGAPSSERT
ASRVRELARLYSERIQQMQRAETRASANAPRRRPRVLAQPQPSPCLPQEQAEPGLLPAFGHVLVCELAFPLTCAQESVPLGPAVWVQAAI
PLSKQGGSPDGQGLHVSNLPKQDLPGIHVSAATLLPEQGGSRHVQAPAATPLPKQEGPLHLQVPALTTFSDQGHPEIQVPATTPLPEHRS
HMVIPAPSTAFCPEQGHCADIHVPTTPALPKEICSDFTVSVTTPVPKQEGHLDSESPTNIPLTKQGGSRDVQGPDPVCSQPIQPLSWHGS
SLDPQGPGDTLPPLPCHLPDLQIPGTSPLPAHGSHLDHRIPANAPLSLSQELPDTQVPATTPLPLPQVLTDIWVQALPTSPKQGSLPDIQ
GPAAAPPLPEPSLTDTQVQKLTPSLEQKSLIDAHVPAATPLPERGGSLDIQGLSPTPVQTTMVLSKPGGSLASHVARNLWAFTGPRGLLM

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

Top

Fusion Protein Functional Features


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/chr4:891821/chr19:39912755)
- 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
GAK

O14976

.
FUNCTION: Associates with cyclin G and CDK5. Seems to act as an auxilin homolog that is involved in the uncoating of clathrin-coated vesicles by Hsc70 in non-neuronal cells. Expression oscillates slightly during the cell cycle, peaking at G1. {ECO:0000269|PubMed:10625686}.FUNCTION: Might normally function as a transcriptional repressor. EWS-fusion-proteins (EFPS) may play a role in the tumorigenic process. They may disturb gene expression by mimicking, or interfering with the normal function of CTD-POLII within the transcription initiation complex. They may also contribute to an aberrant activation of the fusion protein target genes.

check buttonRetention analysis result of each fusion partner protein across 39 protein features of UniProt such as six molecule processing features, 13 region features, four site features, six amino acid modification features, two natural variation features, five experimental info features, and 3 secondary structure features. Here, because of limited space for viewing, we only show the protein feature retention information belong to the 13 regional features. All retention annotation result can be downloaded at

download page

* Minus value of BPloci means that the break pointn is located before the CDS.
- Retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
TgenePLEKHG2chr4:891821chr19:39912755ENST0000037855015181067_1184501.0578.0Compositional biasNote=Pro-rich
TgenePLEKHG2chr4:891821chr19:39912755ENST0000037855015181319_1328501.0578.0Compositional biasNote=Poly-Pro
TgenePLEKHG2chr4:891821chr19:39912755ENST0000037855015181344_1347501.0578.0Compositional biasNote=Poly-Gly
TgenePLEKHG2chr4:891821chr19:39912755ENST000003785501518593_600501.0578.0Compositional biasNote=Poly-Glu
TgenePLEKHG2chr4:891821chr19:39912755ENST0000040979415191067_1184501.01387.0Compositional biasNote=Pro-rich
TgenePLEKHG2chr4:891821chr19:39912755ENST0000040979415191319_1328501.01387.0Compositional biasNote=Poly-Pro
TgenePLEKHG2chr4:891821chr19:39912755ENST0000040979415191344_1347501.01387.0Compositional biasNote=Poly-Gly
TgenePLEKHG2chr4:891821chr19:39912755ENST000004097941519593_600501.01387.0Compositional biasNote=Poly-Glu
TgenePLEKHG2chr4:891821chr19:39912755ENST0000040979715181067_1184501.0578.0Compositional biasNote=Pro-rich
TgenePLEKHG2chr4:891821chr19:39912755ENST0000040979715181319_1328501.0578.0Compositional biasNote=Poly-Pro
TgenePLEKHG2chr4:891821chr19:39912755ENST0000040979715181344_1347501.0578.0Compositional biasNote=Poly-Gly
TgenePLEKHG2chr4:891821chr19:39912755ENST000004097971518593_600501.0578.0Compositional biasNote=Poly-Glu
TgenePLEKHG2chr4:891821chr19:39912755ENST0000042567313171067_1184472.01358.0Compositional biasNote=Pro-rich
TgenePLEKHG2chr4:891821chr19:39912755ENST0000042567313171319_1328472.01358.0Compositional biasNote=Poly-Pro
TgenePLEKHG2chr4:891821chr19:39912755ENST0000042567313171344_1347472.01358.0Compositional biasNote=Poly-Gly
TgenePLEKHG2chr4:891821chr19:39912755ENST000004256731317593_600472.01358.0Compositional biasNote=Poly-Glu

- Not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgeneGAKchr4:891821chr19:39912755ENST00000314167-628347_350217.01312.0Compositional biasNote=Poly-Pro
HgeneGAKchr4:891821chr19:39912755ENST00000314167-6281247_1311217.01312.0DomainJ
HgeneGAKchr4:891821chr19:39912755ENST00000314167-628399_566217.01312.0DomainPhosphatase tensin-type
HgeneGAKchr4:891821chr19:39912755ENST00000314167-62840_314217.01312.0DomainProtein kinase
HgeneGAKchr4:891821chr19:39912755ENST00000314167-628572_710217.01312.0DomainC2 tensin-type
TgenePLEKHG2chr4:891821chr19:39912755ENST000003785501518102_283501.0578.0DomainDH
TgenePLEKHG2chr4:891821chr19:39912755ENST000003785501518313_411501.0578.0DomainPH
TgenePLEKHG2chr4:891821chr19:39912755ENST000004097941519102_283501.01387.0DomainDH
TgenePLEKHG2chr4:891821chr19:39912755ENST000004097941519313_411501.01387.0DomainPH
TgenePLEKHG2chr4:891821chr19:39912755ENST000004097971518102_283501.0578.0DomainDH
TgenePLEKHG2chr4:891821chr19:39912755ENST000004097971518313_411501.0578.0DomainPH
TgenePLEKHG2chr4:891821chr19:39912755ENST000004256731317102_283472.01358.0DomainDH
TgenePLEKHG2chr4:891821chr19:39912755ENST000004256731317313_411472.01358.0DomainPH


Top

Fusion Protein-Protein Interaction


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 from validated records (BIOGRID-3.4.160)
GenePPI interactors


check button Protein-protein interactors based on sequence similarity (STRING)
GeneSTRING network
GAK
PLEKHG2


check button - Retained interactions in fusion protein (protein functional feature from UniProt).
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenStill interaction with


check button - Lost interactions due to fusion (protein functional feature from UniProt).
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenInteraction lost with


Top

Related Drugs to GAK-PLEKHG2


check button Drugs used for this fusion-positive patient.
(Manual curation of PubMed, 04-30-2022 + MyCancerGenome)
HgeneTgeneDrugSourcePMID

Top

Related Diseases to GAK-PLEKHG2


check button Diseases that have this fusion gene.
(Manual curation of PubMed, 04-30-2022 + MyCancerGenome)
HgeneTgeneDiseaseSourcePMID

check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource