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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: 14931

FusionGeneSummary for GNB2L1_HLTF

check button Fusion gene summary
Fusion gene informationFusion gene name: GNB2L1_HLTF
Fusion gene ID: 14931
HgeneTgene
Gene symbol

GNB2L1

HLTF

Gene ID

10399

6596

Gene namereceptor for activated C kinase 1helicase like transcription factor
SynonymsGNB2L1|Gnb2-rs1|H12.3|HLC-7|PIG21HIP116|HIP116A|HLTF1|RNF80|SMARCA3|SNF2L3|ZBU1
Cytomap

5q35.3

3q24

Type of geneprotein-codingprotein-coding
Descriptionreceptor of activated protein C kinase 1cell proliferation-inducing gene 21 proteinguanine nucleotide binding protein (G protein), beta polypeptide 2-like 1guanine nucleotide binding protein beta polypeptide 2-like 1guanine nucleotide-binding protein helicase-like transcription factorDNA-binding protein/plasminogen activator inhibitor-1 regulatorRING finger protein 80RING-type E3 ubiquitin transferase HLTFSNF2-like 3SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfa
Modification date2018052320180519
UniProtAcc

Q14527

Ensembl transtripts involved in fusion geneENST00000514455, ENST00000511566, 
ENST00000376817, ENST00000512805, 
ENST00000504726, ENST00000511900, 
ENST00000456394, ENST00000505461, 
ENST00000465259, ENST00000310053, 
ENST00000392912, ENST00000494055, 
ENST00000481663, 
Fusion gene scores* DoF score4 X 2 X 4=323 X 3 X 3=27
# samples 63
** MAII scorelog2(6/32*10)=0.906890595608518
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
log2(3/27*10)=0.15200309344505
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
Context

PubMed: GNB2L1 [Title/Abstract] AND HLTF [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
HgeneGNB2L1

GO:0001934

positive regulation of protein phosphorylation

11312657|17108144

HgeneGNB2L1

GO:0030308

negative regulation of cell growth

9584165

HgeneGNB2L1

GO:0030335

positive regulation of cell migration

20499158

HgeneGNB2L1

GO:0032436

positive regulation of proteasomal ubiquitin-dependent protein catabolic process

19785988

HgeneGNB2L1

GO:0032464

positive regulation of protein homooligomerization

20541605

HgeneGNB2L1

GO:0043065

positive regulation of apoptotic process

20541605

HgeneGNB2L1

GO:0043547

positive regulation of GTPase activity

20499158

HgeneGNB2L1

GO:0051726

regulation of cell cycle

9584165

HgeneGNB2L1

GO:0071333

cellular response to glucose stimulus

20103773

HgeneGNB2L1

GO:0071363

cellular response to growth factor stimulus

20010870


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-A2MT-06AGNB2L1chr5

180663934

-HLTFchr3

148780866

-
* 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
intron-intronENST00000514455ENST00000465259GNB2L1chr5

180663934

-HLTFchr3

148780866

-
intron-intronENST00000514455ENST00000310053GNB2L1chr5

180663934

-HLTFchr3

148780866

-
intron-intronENST00000514455ENST00000392912GNB2L1chr5

180663934

-HLTFchr3

148780866

-
intron-intronENST00000514455ENST00000494055GNB2L1chr5

180663934

-HLTFchr3

148780866

-
intron-intronENST00000514455ENST00000481663GNB2L1chr5

180663934

-HLTFchr3

148780866

-
5CDS-intronENST00000511566ENST00000465259GNB2L1chr5

180663934

-HLTFchr3

148780866

-
5CDS-intronENST00000511566ENST00000310053GNB2L1chr5

180663934

-HLTFchr3

148780866

-
5CDS-intronENST00000511566ENST00000392912GNB2L1chr5

180663934

-HLTFchr3

148780866

-
5CDS-intronENST00000511566ENST00000494055GNB2L1chr5

180663934

-HLTFchr3

148780866

-
5CDS-intronENST00000511566ENST00000481663GNB2L1chr5

180663934

-HLTFchr3

148780866

-
5CDS-intronENST00000376817ENST00000465259GNB2L1chr5

180663934

-HLTFchr3

148780866

-
5CDS-intronENST00000376817ENST00000310053GNB2L1chr5

180663934

-HLTFchr3

148780866

-
5CDS-intronENST00000376817ENST00000392912GNB2L1chr5

180663934

-HLTFchr3

148780866

-
5CDS-intronENST00000376817ENST00000494055GNB2L1chr5

180663934

-HLTFchr3

148780866

-
5CDS-intronENST00000376817ENST00000481663GNB2L1chr5

180663934

-HLTFchr3

148780866

-
5CDS-intronENST00000512805ENST00000465259GNB2L1chr5

180663934

-HLTFchr3

148780866

-
5CDS-intronENST00000512805ENST00000310053GNB2L1chr5

180663934

-HLTFchr3

148780866

-
5CDS-intronENST00000512805ENST00000392912GNB2L1chr5

180663934

-HLTFchr3

148780866

-
5CDS-intronENST00000512805ENST00000494055GNB2L1chr5

180663934

-HLTFchr3

148780866

-
5CDS-intronENST00000512805ENST00000481663GNB2L1chr5

180663934

-HLTFchr3

148780866

-
5CDS-intronENST00000504726ENST00000465259GNB2L1chr5

180663934

-HLTFchr3

148780866

-
5CDS-intronENST00000504726ENST00000310053GNB2L1chr5

180663934

-HLTFchr3

148780866

-
5CDS-intronENST00000504726ENST00000392912GNB2L1chr5

180663934

-HLTFchr3

148780866

-
5CDS-intronENST00000504726ENST00000494055GNB2L1chr5

180663934

-HLTFchr3

148780866

-
5CDS-intronENST00000504726ENST00000481663GNB2L1chr5

180663934

-HLTFchr3

148780866

-
intron-intronENST00000511900ENST00000465259GNB2L1chr5

180663934

-HLTFchr3

148780866

-
intron-intronENST00000511900ENST00000310053GNB2L1chr5

180663934

-HLTFchr3

148780866

-
intron-intronENST00000511900ENST00000392912GNB2L1chr5

180663934

-HLTFchr3

148780866

-
intron-intronENST00000511900ENST00000494055GNB2L1chr5

180663934

-HLTFchr3

148780866

-
intron-intronENST00000511900ENST00000481663GNB2L1chr5

180663934

-HLTFchr3

148780866

-
intron-intronENST00000456394ENST00000465259GNB2L1chr5

180663934

-HLTFchr3

148780866

-
intron-intronENST00000456394ENST00000310053GNB2L1chr5

180663934

-HLTFchr3

148780866

-
intron-intronENST00000456394ENST00000392912GNB2L1chr5

180663934

-HLTFchr3

148780866

-
intron-intronENST00000456394ENST00000494055GNB2L1chr5

180663934

-HLTFchr3

148780866

-
intron-intronENST00000456394ENST00000481663GNB2L1chr5

180663934

-HLTFchr3

148780866

-
intron-intronENST00000505461ENST00000465259GNB2L1chr5

180663934

-HLTFchr3

148780866

-
intron-intronENST00000505461ENST00000310053GNB2L1chr5

180663934

-HLTFchr3

148780866

-
intron-intronENST00000505461ENST00000392912GNB2L1chr5

180663934

-HLTFchr3

148780866

-
intron-intronENST00000505461ENST00000494055GNB2L1chr5

180663934

-HLTFchr3

148780866

-
intron-intronENST00000505461ENST00000481663GNB2L1chr5

180663934

-HLTFchr3

148780866

-

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FusionProtFeatures for GNB2L1_HLTF


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
GNB2L1

HLTF

Q14527

Lectin that binds to various sugars: galactose > mannose= fucose > N-acetylglucosamine > N-acetylgalactosamine(PubMed:10224141). Acts as a chemoattractant, probably involved inthe regulation of cell migration (PubMed:28301481).{ECO:0000269|PubMed:10224141, ECO:0000269|PubMed:28301481}. Has both helicase and E3 ubiquitin ligase activities.Possesses intrinsic ATP-dependent nucleosome-remodeling activity;This activity may be required for transcriptional activation orrepression of specific target promoters (By similarity). These mayinclude the SERPINE1 and HIV-1 promoters and the SV40 enhancer, towhich this protein can bind directly. Plays a role in error-freepostreplication repair (PRR) of damaged DNA and maintains genomicstability through acting as a ubiquitin ligase for 'Lys-63'-linkedpolyubiquitination of chromatin-bound PCNA. {ECO:0000250,ECO:0000269|PubMed:10391891, ECO:0000269|PubMed:18316726,ECO:0000269|PubMed:18719106, ECO:0000269|PubMed:7876228,ECO:0000269|PubMed:8672239, ECO:0000269|PubMed:9126292}.

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


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FusionGeneSequence for GNB2L1_HLTF


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.

* Fusion transcript sequences (only coding sequence (CDS) region).

* Fusion transcript sequences (Full-length transcript).

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FusionGenePPI for GNB2L1_HLTF


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
GNB2L1HABP4, NSMAF, AR, ITGB2, TSC22D4, PTPRM, CCNA1, EIF6, TYK2, JAK1, STAT1, IL4R, IL2RB, EPOR, TP73, RB1, TP63, CDKN1A, DDX19B, SLC27A6, PTN, GOLM1, GRAP2, PRKCB, ITGB1, CSF2RB, PRKCE, SLC9A3R1, PDE4D, FYN, GRIN2B, PLCG1, IFNAR2, PRKCA, LARP4B, PABPC1, AGTRAP, SRC, RASA3, RASA1, IGF1R, OTUB1, SAT1, HIF1A, SAP25, HIST1H3A, HIST1H4A, GNB2L1, JUN, FBXW7, RNF185, FEM1B, TCEB1, COPS5, MAPK6, SREK1, TCEB2, SIRT7, PRKAB2, ISG15, VHL, CUL3, CDK2, CUL1, CAND1, PPP2R1A, MID1, GNB1, GNG2, DYNLL1, BCL2L11, CISH, CUL2, KCNA5, KCNAB1, NR3C1, RPL13, RPL4, RPL7A, ANXA2, RPL27A, RPL15, RPL21, RPL19, RPS27L, RPL37A, RPS2, TIAL1, HSD17B4, RPS25, HSP90B1, BRCA1, ECT2, MDC1, PAXIP1, TP53BP1, FN1, VCAM1, CHERP, PRPF31, IK, WDR83, DGCR14, HNRNPH2, IL7R, UBL4A, CFTR, CBX8, PPID, CD81, FBXW2, ADRB2, RHOA, ADH1B, AURKB, TBXA2R, AGTR1, FBXO6, TARDBP, PTOV1, RPS6, EIF3E, DYNC1LI2, EIF3K, RPS21, RPS5, RPSA, RPS12, RPS13, RPS16, RPS18, RPS20, RPS27, RPS3A, RPS3, RPS8, RPS9, SYNCRIP, TRIM45, STAU1, HUWE1, MKRN2, ALK, SYN2, CUL7, OBSL1, EZH2, SUZ12, RNF2, BMI1, WDR76, ESR1, LARP4, TNRC6C, MKI67, ZCCHC3, HELZ, RIOK3, WIPI1, HNRNPA1, UNK, CAB39, CCDC58, FUBP1, AK2, ARF4, DAZAP1, EEF1A1, ELAVL1, HSPA9, PIR, RPL12, RPL5, RPL7, RPLP0, UBE2T, LSM12, PCBP1, PCBP2, SFN, NTRK1, IFNAR1, NPM1, RPL10, SGTB, TRAF6, TNFRSF11A, GAN, SKI, MCM2, GLI1, TRAF2, MAP3K7, MAP2K6, U2AF2, AHSA1, WWP2, DERL1, ZNF746, CDH1, MTNR1A, CYLD, MCPH1, EED, SMPD3, RSC1A1HLTFPCNA, UBE2N, UBE2V2, RAD18, USP7, RPAP1, UBE2Z, EWSR1, CHFR, SHPRH, RNF146, ELAVL1, SPRTN, SP1, SP3, NOTCH1, DTL, BRCA1, CDK9, HSPA8, SULT1C2, WBP4, RPA3, RPA2, RPA1, UBC, UBE2A, HLTF, DLD, RNF166, APLF, HIST1H2BA, S100A10, FBXW11, NTRK1, PDK3, SMC1A, EMC2, AP4S1, SYNPO, CERK, TCEAL4, SNW1, CDC5L, NANOG, POU5F1, NFATC1, NFATC2, PMPCA, CHD1L, FEN1, VPRBP


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 GNB2L1_HLTF


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 GNB2L1_HLTF


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
TgeneHLTFC0022665Kidney Neoplasm1CTD_human