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Center for Computational Systems Medicine level1
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Fusion Gene Summary

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Fusion Gene Sample Information

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Fusion ORF Analysis

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Fusion Amino Acid Sequences

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Fusion Protein Functional Features

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Fusion Protein-Protein Interaction

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Related drugs with this fusion protein

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Related disease with this fusion protein

Fusion Protein:DENND1B-ATP6V1G3

Fusion Protein Summary

check button Fusion gene summary
Fusion partner gene informationFusion gene name: DENND1B-ATP6V1G3
FusionPDB ID: 22209
FusionGDB2.0 ID: 22209
HgeneTgene
Gene symbol

DENND1B

ATP6V1G3

Gene ID

163486

127124

Gene nameDENN domain containing 1BATPase H+ transporting V1 subunit G3
SynonymsC1ORF18|C1orf218|FAM31BATP6G3|Vma10
Cytomap

1q31.3

1q31.3

Type of geneprotein-codingprotein-coding
DescriptionDENN domain-containing protein 1BDENN/MADD domain containing 1Bconnecdenn 2family with sequence similarity 31, member BV-type proton ATPase subunit G 3ATPase, H+ transporting, lysosomal (vacuolar proton pump) subunit G3ATPase, H+ transporting, lysosomal 13kDa, V1 subunit G3V-ATPase 13 kDa subunit 3V-ATPase G subunit 3V-ATPase G3 subunitV-ATPase subunit G 3vacuolar
Modification date2020032020200313
UniProtAcc

Q6P3S1

.
Ensembl transtripts involved in fusion geneENST idsENST00000235453, ENST00000367396, 
ENST00000400967, ENST00000477581, 
ENST00000281087, ENST00000309309, 
ENST00000367381, ENST00000367382, 
ENST00000489986, 
Fusion gene scores for assessment (based on all fusion genes of FusionGDB 2.0)* DoF score13 X 7 X 7=6372 X 2 X 2=8
# samples 163
** MAII scorelog2(16/637*10)=-1.99322146736894
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(3/8*10)=1.90689059560852
Context (manual curation of fusion genes in FusionPDB)

PubMed: DENND1B [Title/Abstract] AND ATP6V1G3 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpoint (based on all fusion genes of FusionGDB 2.0)DENND1B(197684161)-ATP6V1G3(198498311), # samples:2
Anticipated loss of major functional domain due to fusion event.DENND1B-ATP6V1G3 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.
DENND1B-ATP6V1G3 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.
DENND1B-ATP6V1G3 seems lost the major protein functional domain in Tgene partner, which is a IUPHAR drug target due to the frame-shifted 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

check buttonFusion gene breakpoints across DENND1B (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 ATP6V1G3 (3'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.
all structure


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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
ChimerDB4STADTCGA-VQ-A92D-01ADENND1Bchr1

197684161

-ATP6V1G3chr1

198498311

-
ChimerDB4STADTCGA-VQ-A92DDENND1Bchr1

197684160

-ATP6V1G3chr1

198498311

-


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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)
ENST00000400967DENND1Bchr1197684161-ENST00000309309ATP6V1G3chr1198498311-5409629370113
ENST00000367396DENND1Bchr1197684161-ENST00000309309ATP6V1G3chr1198498311-7402963342111
ENST00000400967DENND1Bchr1197684160-ENST00000309309ATP6V1G3chr1198498311-5409629370113
ENST00000367396DENND1Bchr1197684160-ENST00000309309ATP6V1G3chr1198498311-7402963342111

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
ENST00000400967ENST00000309309DENND1Bchr1197684161-ATP6V1G3chr1198498311-0.0608188140.9391812
ENST00000367396ENST00000309309DENND1Bchr1197684161-ATP6V1G3chr1198498311-0.0881801840.9118198
ENST00000400967ENST00000309309DENND1Bchr1197684160-ATP6V1G3chr1198498311-0.0608188140.9391812
ENST00000367396ENST00000309309DENND1Bchr1197684160-ATP6V1G3chr1198498311-0.0881801840.9118198

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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

>22209_22209_1_DENND1B-ATP6V1G3_DENND1B_chr1_197684160_ENST00000367396_ATP6V1G3_chr1_198498311_ENST00000309309_length(amino acids)=111AA_BP=
MLPPWLASIAFLFLVSKVLWEFPQYHRIFIFRGMTFHFQHQVKGSVWICLGPAVHGYMSVWGCPSGPRALAWKPAARPREGRAVPAHAGG

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

>22209_22209_2_DENND1B-ATP6V1G3_DENND1B_chr1_197684160_ENST00000400967_ATP6V1G3_chr1_198498311_ENST00000309309_length(amino acids)=113AA_BP=22
MAPTCIFESCGIVEIPRGLWRPGKGKRLKQAKEEAMVEIDQYRMQRDKEFRLKQSKIMGSQNNLSDEIEEQTLGKIQELNGHYNKYMESV

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

>22209_22209_3_DENND1B-ATP6V1G3_DENND1B_chr1_197684161_ENST00000367396_ATP6V1G3_chr1_198498311_ENST00000309309_length(amino acids)=111AA_BP=
MLPPWLASIAFLFLVSKVLWEFPQYHRIFIFRGMTFHFQHQVKGSVWICLGPAVHGYMSVWGCPSGPRALAWKPAARPREGRAVPAHAGG

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

>22209_22209_4_DENND1B-ATP6V1G3_DENND1B_chr1_197684161_ENST00000400967_ATP6V1G3_chr1_198498311_ENST00000309309_length(amino acids)=113AA_BP=22
MAPTCIFESCGIVEIPRGLWRPGKGKRLKQAKEEAMVEIDQYRMQRDKEFRLKQSKIMGSQNNLSDEIEEQTLGKIQELNGHYNKYMESV

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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/chr1:197684161/chr1:198498311)
- 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
DENND1B

Q6P3S1

.
FUNCTION: Guanine nucleotide exchange factor (GEF) for RAB35 that acts as a regulator of T-cell receptor (TCR) internalization in TH2 cells (PubMed:20154091, PubMed:20937701, PubMed:24520163, PubMed:26774822). Acts by promoting the exchange of GDP to GTP, converting inactive GDP-bound RAB35 into its active GTP-bound form (PubMed:20154091, PubMed:20937701). Plays a role in clathrin-mediated endocytosis (PubMed:20154091). Controls cytokine production in TH2 lymphocytes by controlling the rate of TCR internalization and routing to endosomes: acts by mediating clathrin-mediated endocytosis of TCR via its interaction with the adapter protein complex 2 (AP-2) and GEF activity (PubMed:26774822). Dysregulation leads to impaired TCR down-modulation and recycling, affecting cytokine production in TH2 cells (PubMed:26774822). {ECO:0000269|PubMed:20154091, ECO:0000269|PubMed:20937701, ECO:0000269|PubMed:24520163, ECO:0000269|PubMed:26774822}.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

- Not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgeneDENND1Bchr1:197684160chr1:198498311ENST00000235453-41614_14332.0397.0DomainuDENN
HgeneDENND1Bchr1:197684160chr1:198498311ENST00000235453-416180_31632.0397.0DomaincDENN
HgeneDENND1Bchr1:197684160chr1:198498311ENST00000235453-416318_39532.0397.0DomaindDENN
HgeneDENND1Bchr1:197684160chr1:198498311ENST00000367396-31614_14342.0427.0DomainuDENN
HgeneDENND1Bchr1:197684160chr1:198498311ENST00000367396-316180_31642.0427.0DomaincDENN
HgeneDENND1Bchr1:197684160chr1:198498311ENST00000367396-316318_39542.0427.0DomaindDENN
HgeneDENND1Bchr1:197684160chr1:198498311ENST00000400967-21414_14332.0397.0DomainuDENN
HgeneDENND1Bchr1:197684160chr1:198498311ENST00000400967-214180_31632.0397.0DomaincDENN
HgeneDENND1Bchr1:197684160chr1:198498311ENST00000400967-214318_39532.0397.0DomaindDENN
HgeneDENND1Bchr1:197684161chr1:198498311ENST00000235453-41614_14332.0397.0DomainuDENN
HgeneDENND1Bchr1:197684161chr1:198498311ENST00000235453-416180_31632.0397.0DomaincDENN
HgeneDENND1Bchr1:197684161chr1:198498311ENST00000235453-416318_39532.0397.0DomaindDENN
HgeneDENND1Bchr1:197684161chr1:198498311ENST00000367396-31614_14342.0427.0DomainuDENN
HgeneDENND1Bchr1:197684161chr1:198498311ENST00000367396-316180_31642.0427.0DomaincDENN
HgeneDENND1Bchr1:197684161chr1:198498311ENST00000367396-316318_39542.0427.0DomaindDENN
HgeneDENND1Bchr1:197684161chr1:198498311ENST00000400967-21414_14332.0397.0DomainuDENN
HgeneDENND1Bchr1:197684161chr1:198498311ENST00000400967-214180_31632.0397.0DomaincDENN
HgeneDENND1Bchr1:197684161chr1:198498311ENST00000400967-214318_39532.0397.0DomaindDENN
HgeneDENND1Bchr1:197684160chr1:198498311ENST00000235453-416398_40232.0397.0MotifFXDXF motif
HgeneDENND1Bchr1:197684160chr1:198498311ENST00000235453-416566_57532.0397.0MotifClathrin box
HgeneDENND1Bchr1:197684160chr1:198498311ENST00000367396-316398_40242.0427.0MotifFXDXF motif
HgeneDENND1Bchr1:197684160chr1:198498311ENST00000367396-316566_57542.0427.0MotifClathrin box
HgeneDENND1Bchr1:197684160chr1:198498311ENST00000400967-214398_40232.0397.0MotifFXDXF motif
HgeneDENND1Bchr1:197684160chr1:198498311ENST00000400967-214566_57532.0397.0MotifClathrin box
HgeneDENND1Bchr1:197684161chr1:198498311ENST00000235453-416398_40232.0397.0MotifFXDXF motif
HgeneDENND1Bchr1:197684161chr1:198498311ENST00000235453-416566_57532.0397.0MotifClathrin box
HgeneDENND1Bchr1:197684161chr1:198498311ENST00000367396-316398_40242.0427.0MotifFXDXF motif
HgeneDENND1Bchr1:197684161chr1:198498311ENST00000367396-316566_57542.0427.0MotifClathrin box
HgeneDENND1Bchr1:197684161chr1:198498311ENST00000400967-214398_40232.0397.0MotifFXDXF motif
HgeneDENND1Bchr1:197684161chr1:198498311ENST00000400967-214566_57532.0397.0MotifClathrin box
TgeneATP6V1G3chr1:197684160chr1:198498311ENST00000281087145_5427.333333333333332119.0Coiled coilOntology_term=ECO:0000255
TgeneATP6V1G3chr1:197684160chr1:198498311ENST00000309309255_5442.666666666666664145.33333333333334Coiled coilOntology_term=ECO:0000255
TgeneATP6V1G3chr1:197684160chr1:198498311ENST00000367381255_5433.333333333333336125.0Coiled coilOntology_term=ECO:0000255
TgeneATP6V1G3chr1:197684160chr1:198498311ENST00000367382035_5427.333333333333332119.0Coiled coilOntology_term=ECO:0000255
TgeneATP6V1G3chr1:197684160chr1:198498311ENST00000489986145_5433.333333333333336125.0Coiled coilOntology_term=ECO:0000255
TgeneATP6V1G3chr1:197684161chr1:198498311ENST00000281087145_5427.333333333333332119.0Coiled coilOntology_term=ECO:0000255
TgeneATP6V1G3chr1:197684161chr1:198498311ENST00000309309255_5442.666666666666664145.33333333333334Coiled coilOntology_term=ECO:0000255
TgeneATP6V1G3chr1:197684161chr1:198498311ENST00000367381255_5433.333333333333336125.0Coiled coilOntology_term=ECO:0000255
TgeneATP6V1G3chr1:197684161chr1:198498311ENST00000367382035_5427.333333333333332119.0Coiled coilOntology_term=ECO:0000255
TgeneATP6V1G3chr1:197684161chr1:198498311ENST00000489986145_5433.333333333333336125.0Coiled coilOntology_term=ECO:0000255


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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
DENND1B
ATP6V1G3


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


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Related Drugs to DENND1B-ATP6V1G3


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

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Related Diseases to DENND1B-ATP6V1G3


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