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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:ACTG1-CXCR5

Fusion Protein Summary

check button Fusion gene summary
Fusion partner gene informationFusion gene name: ACTG1-CXCR5
FusionPDB ID: 1670
FusionGDB2.0 ID: 1670
HgeneTgene
Gene symbol

ACTG1

CXCR5

Gene ID

71

643

Gene nameactin gamma 1C-X-C motif chemokine receptor 5
SynonymsACT|ACTG|DFNA20|DFNA26|HEL-176BLR1|CD185|MDR15
Cytomap

17q25.3

11q23.3

Type of geneprotein-codingprotein-coding
Descriptionactin, cytoplasmic 2cytoskeletal gamma-actinepididymis luminal protein 176C-X-C chemokine receptor type 5Burkitt lymphoma receptor 1, GTP binding protein (chemokine (C-X-C motif) receptor 5)Burkitt lymphoma receptor 1, GTP-binding proteinCXC-R5CXCR-5MDR-15chemokine (C-X-C motif) receptor 5monocyte-derived receptor 15
Modification date2020032720200313
UniProtAcc

P63261

P32302

Ensembl transtripts involved in fusion geneENST idsENST00000331925, ENST00000573283, 
ENST00000575087, ENST00000575842, 
ENST00000292174, 
Fusion gene scores for assessment (based on all fusion genes of FusionGDB 2.0)* DoF score51 X 36 X 13=2386812 X 4 X 8=384
# samples 5812
** MAII scorelog2(58/23868*10)=-5.36288097153997
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(12/384*10)=-1.67807190511264
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context (manual curation of fusion genes in FusionPDB)

PubMed: ACTG1 [Title/Abstract] AND CXCR5 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpoint (based on all fusion genes of FusionGDB 2.0)ACTG1(79476999)-CXCR5(118754475), # samples:1
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 ACTG1 (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 CXCR5 (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
ChimerDB4DLBCTCGA-GR-A4D9-01BACTG1chr17

79476999

-CXCR5chr11

118754475

+


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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)
ENST00000331925ACTG1chr1779476999-ENST00000292174CXCR5chr11118754475+642519941351274379

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
ENST00000331925ENST00000292174ACTG1chr1779476999-CXCR5chr11118754475+0.0024746270.9975254

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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

>1670_1670_1_ACTG1-CXCR5_ACTG1_chr17_79476999_ENST00000331925_CXCR5_chr11_118754475_ENST00000292174_length(amino acids)=379AA_BP=
MPVAMEEEIAALVIDNGSGMCKAGFAGDDAPRAVFPSIVGRPRHQGVMVGMGQKDSYVGDEAQSKRGILTLKYPIEHGIVTNWDDMEKIW
HHTFYNELRVAPEEHPVLLTEAPLNPKANREKMTQIMFETFNTPAMYVAIQAVLSLYASGRTTGIVMDSGDGVTHTVPIYEGYALPHAIL
RLDLAGRDLTDYLMKILTERGYSFTTTAEREIVRDIKEKLCYVALDFEQEMATAASSSSLEKSYELPDGQVITIGNERFRCPEALFQPSF
LGMESCGIHETTFNSIMKCDVDIRKDLYANTVLSGGTTMYPGIADRMQKEITALAPSTMKIKIIAPPERKYSVWIGGSILASLSTFQQMW

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

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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/chr17:79476999/chr11:118754475)
- 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
ACTG1

P63261

CXCR5

P32302

FUNCTION: Actins are highly conserved proteins that are involved in various types of cell motility and are ubiquitously expressed in all eukaryotic cells. {ECO:0000305|PubMed:29581253}.FUNCTION: Cytokine receptor that binds to B-lymphocyte chemoattractant (BLC). Involved in B-cell migration into B-cell follicles of spleen and Peyer patches but not into those of mesenteric or peripheral lymph nodes. May have a regulatory function in Burkitt lymphoma (BL) lymphomagenesis and/or B-cell differentiation.

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
TgeneCXCR5chr17:79476999chr11:118754475ENST00000292174-12110_12417.0373.0Topological domainExtracellular
TgeneCXCR5chr17:79476999chr11:118754475ENST00000292174-12146_16717.0373.0Topological domainCytoplasmic
TgeneCXCR5chr17:79476999chr11:118754475ENST00000292174-12189_21917.0373.0Topological domainExtracellular
TgeneCXCR5chr17:79476999chr11:118754475ENST00000292174-12241_25917.0373.0Topological domainCytoplasmic
TgeneCXCR5chr17:79476999chr11:118754475ENST00000292174-12281_30417.0373.0Topological domainExtracellular
TgeneCXCR5chr17:79476999chr11:118754475ENST00000292174-12326_37217.0373.0Topological domainCytoplasmic
TgeneCXCR5chr17:79476999chr11:118754475ENST00000292174-1277_8817.0373.0Topological domainCytoplasmic
TgeneCXCR5chr17:79476999chr11:118754475ENST00000292174-12125_14517.0373.0TransmembraneHelical%3B Name%3D3
TgeneCXCR5chr17:79476999chr11:118754475ENST00000292174-12168_18817.0373.0TransmembraneHelical%3B Name%3D4
TgeneCXCR5chr17:79476999chr11:118754475ENST00000292174-12220_24017.0373.0TransmembraneHelical%3B Name%3D5
TgeneCXCR5chr17:79476999chr11:118754475ENST00000292174-12260_28017.0373.0TransmembraneHelical%3B Name%3D6
TgeneCXCR5chr17:79476999chr11:118754475ENST00000292174-12305_32517.0373.0TransmembraneHelical%3B Name%3D7
TgeneCXCR5chr17:79476999chr11:118754475ENST00000292174-1256_7617.0373.0TransmembraneHelical%3B Name%3D1
TgeneCXCR5chr17:79476999chr11:118754475ENST00000292174-1289_10917.0373.0TransmembraneHelical%3B Name%3D2

- Not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
TgeneCXCR5chr17:79476999chr11:118754475ENST00000292174-121_5517.0373.0Topological domainExtracellular


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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
ACTG1CFL2, CFL1, ACTG1, ACTB, DSTN, TMSB4X, FHOD1, EPS8L1, EPS8L2, FEZ1, CTNND1, ST3GAL3, SH3GL2, EIF6, PFN2, PRSS23, BCAP31, RBX1, MDK, CAP1, CAP2, RUVBL2, MEPCE, RUVBL1, gag, MORF4L1, MORF4L2, MRGBP, DMAP1, KAT5, POU5F1, UCHL5, YWHAQ, DISC1, TNIK, RPS6KA5, MAPK6, NDRG1, SP1, UBE2Q2, FBXO25, MYOC, LRRK2, APOE, PSEN2, BRCA1, LIG4, TSGA10, TRAF3IP1, GZMK, GZMA, HSP90AA1, HSP90AB1, PPP1CC, MYC, MLH1, UBL4A, ITGA4, ILF3, AICDA, WIPF1, FN1, CTTN, ADRB2, PLD1, CTBP2, GIT2, GRB2, COTL1, WASL, FBXO6, TOPBP1, CDKN2A, ACTA1, ACTBL2, BRK1, HSPA5, UBASH3B, ERRFI1, LGR4, EHHADH, CCDC22, WDYHV1, CCDC101, CCDC8, EZH2, SUZ12, EED, RNF2, BMI1, FAF2, RPS6KB2, CORO1B, CORO1C, CAD, EEF1A1, EEF1A2, NCKAP1, RAN, YARS, SFN, HSPB2, SRPK2, HIST1H3E, CAPZA2, CDK2, DBN1, FLNA, MYH9, MYO1C, PPP1CB, VCL, IQGAP1, PDLIM7, LIMA1, ANLN, MYO5C, MYO19, MYO18A, Actb, Flot1, Flot2, Myh9, Myo1c, Tpm1, Coro1c, Tmod3, Lima1, Tmed10, Calml3, Myh10, Flnb, TRAF2, VASP, GAN, MCM2, SHC1, ERBB3, RC3H1, Pparg, DUSP19, C17orf89, MCPH1, ACT1, AIP1, SRP1, TAE1, HDAC6, ZNF598, FGFR1, CTNNB1, KRAS, LARS, ACO2, CSNK1A1, TGFB1, PRPF8, EFTUD2, AAR2, PPP5C, CHD3, RIOK1, ESR2, H2AFZ, H3F3A, HIST1H4H, HIST2H2AC, VIM, GPD1, CERS1, HEXIM1, LARP7, CDH1, BIN1, CDK9, TLR9, RC3H2, PSMA3, FAF1, IKBKG, FADD, TANK, USP14, UCHL3, DCTN4, HOOK3, HRAS, MAPT, HIST1H4A, PSMD14, BIRC3, WWP2, HTT, PARK2, CDC37, PLEKHA4, MAGEA3, S, FANCD2, LINC01554, ZC3H18, DOK2, ELK4, MAPK7, PRKCA, PTPN12, PTPRR, RASA1, SH3BGRL, NEK4, DUX4, FASN, LDLR, SREBF2, AIMP2, BRD4, NUPR1, ORF14, Apc2, WDR76, RNF208, EIF3F, INSIG1, INSIG2, RIN3, DDX58, SPOP, ISG15, UFL1, DDRGK1, TP53, NPM1, FXR1, WDR5, BGLT3, SPRTN, BTF3, SLFN11, LHPP, CCNF, MAP1LC3B, NBR1, SQSTM1, OPTN, TOLLIP, NR3C1,


check button Protein-protein interactors based on sequence similarity (STRING)
GeneSTRING network
ACTG1all structure
CXCR5


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 ACTG1-CXCR5


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 ACTG1-CXCR5


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
HgeneACTG1C3711374Nonsyndromic Deafness18CLINGEN
HgeneACTG1C1858172Deafness, Autosomal Dominant 208CTD_human;GENOMICS_ENGLAND;UNIPROT
HgeneACTG1C3281235BARAITSER-WINTER SYNDROME 24CLINGEN;CTD_human;GENOMICS_ENGLAND;UNIPROT
HgeneACTG1C0001787Osteoporosis, Age-Related1CTD_human
HgeneACTG1C0005745Blepharoptosis1GENOMICS_ENGLAND
HgeneACTG1C0007097Carcinoma1CTD_human
HgeneACTG1C0007621Neoplastic Cell Transformation1CTD_human
HgeneACTG1C0009363Congenital ocular coloboma (disorder)1CTD_human
HgeneACTG1C0014544Epilepsy1GENOMICS_ENGLAND
HgeneACTG1C0024433Macrostomia1GENOMICS_ENGLAND
HgeneACTG1C0024667Animal Mammary Neoplasms1CTD_human
HgeneACTG1C0024668Mammary Neoplasms, Experimental1CTD_human
HgeneACTG1C0029456Osteoporosis1CTD_human
HgeneACTG1C0029459Osteoporosis, Senile1CTD_human
HgeneACTG1C0033377Ptosis1GENOMICS_ENGLAND
HgeneACTG1C0205696Anaplastic carcinoma1CTD_human
HgeneACTG1C0205697Carcinoma, Spindle-Cell1CTD_human
HgeneACTG1C0205698Undifferentiated carcinoma1CTD_human
HgeneACTG1C0205699Carcinomatosis1CTD_human
HgeneACTG1C0240583Short upturned nose1GENOMICS_ENGLAND
HgeneACTG1C0265541Cranioschisis1CTD_human
HgeneACTG1C0266551Congenital coloboma of iris1ORPHANET
HgeneACTG1C0376634Craniofacial Abnormalities1CTD_human
HgeneACTG1C0497552Congenital neurologic anomalies1CTD_human
HgeneACTG1C0751406Post-Traumatic Osteoporosis1CTD_human
HgeneACTG1C0857379Abnormality of the pinna1GENOMICS_ENGLAND
HgeneACTG1C0948089Acute Coronary Syndrome1CTD_human
HgeneACTG1C1257925Mammary Carcinoma, Animal1CTD_human
HgeneACTG1C1384666hearing impairment1GENOMICS_ENGLAND
HgeneACTG1C1843156Progressive sensorineural hearing impairment1GENOMICS_ENGLAND
HgeneACTG1C1844505Pointed chin1GENOMICS_ENGLAND
HgeneACTG1C1849340Long palpebral fissure1GENOMICS_ENGLAND
HgeneACTG1C1855722Iris Coloboma with Ptosis, Hypertelorism, and Mental Retardation1ORPHANET
HgeneACTG1C1865014Long philtrum1GENOMICS_ENGLAND
HgeneACTG1C1865017Thin upper lip vermilion1GENOMICS_ENGLAND
HgeneACTG1C1868571Highly arched eyebrow1GENOMICS_ENGLAND
HgeneACTG1C1970280Hearing loss begins with loss of high frequencies1GENOMICS_ENGLAND
HgeneACTG1C1970281Audiogram shows sloping configuration1GENOMICS_ENGLAND
HgeneACTG1C1970282Deafness, profound, by 6th decade1GENOMICS_ENGLAND
HgeneACTG1C3279369Microphthalmia (in some patients)1GENOMICS_ENGLAND
HgeneACTG1C3549665Deafness (in some patients)1GENOMICS_ENGLAND
HgeneACTG1C3808883Short neck (in some patients)1GENOMICS_ENGLAND
HgeneACTG1C4012410Enlarged ventricles (in some patients)1GENOMICS_ENGLAND
HgeneACTG1C4229649Heart defect (in some patients)1GENOMICS_ENGLAND
HgeneACTG1C4229650Pterygium colli (in some patients)1GENOMICS_ENGLAND
HgeneACTG1C4229651Hypertelorism/telecanthus1GENOMICS_ENGLAND
HgeneACTG1C4229652Eye coloboma (in some patients)1GENOMICS_ENGLAND
HgeneACTG1C4229653Trigonocephaly/metopic ridge1GENOMICS_ENGLAND
HgeneACTG1C4231117Pectus (in some patients)1GENOMICS_ENGLAND
HgeneACTG1C4231118Kyphosis/scoliosis (in some patients)1GENOMICS_ENGLAND
HgeneACTG1C4231120Prominent nasal root on profile1GENOMICS_ENGLAND
HgeneACTG1C4231121Large, squared nose tip1GENOMICS_ENGLAND
HgeneACTG1C4231123Retrognathia (in some patients)1GENOMICS_ENGLAND
HgeneACTG1C4231124Prominent/full/wide cheeks1GENOMICS_ENGLAND
HgeneACTG1C4554007Uveoretinal Coloboma1CTD_human
HgeneACTG1C4708599Coloboma of choroid and retina1ORPHANET