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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:CYP3A4-ITGAV

Fusion Protein Summary

check button Fusion gene summary
Fusion partner gene informationFusion gene name: CYP3A4-ITGAV
FusionPDB ID: 21072
FusionGDB2.0 ID: 21072
HgeneTgene
Gene symbol

CYP3A4

ITGAV

Gene ID

1576

3685

Gene namecytochrome P450 family 3 subfamily A member 4integrin subunit alpha V
SynonymsCP33|CP34|CYP3A|CYP3A3|CYPIIIA3|CYPIIIA4|HLP|NF-25|P450C3|P450PCN1CD51|MSK8|VNRA|VTNR
Cytomap

7q22.1

2q32.1

Type of geneprotein-codingprotein-coding
Descriptioncytochrome P450 3A41,4-cineole 2-exo-monooxygenase1,8-cineole 2-exo-monooxygenaseP450-III, steroid induciblealbendazole monooxygenasealbendazole monooxygenase (sulfoxide-forming)albendazole sulfoxidasecholesterol 25-hydroxylasecytochrome P450 3A3integrin alpha-Vantigen identified by monoclonal antibody L230integrin alphaVbeta3integrin, alpha V (vitronectin receptor, alpha polypeptide, antigen CD51)vitronectin receptor subunit alpha
Modification date2020032720200313
UniProtAcc

Q9HB55

P06756

Ensembl transtripts involved in fusion geneENST idsENST00000336411, ENST00000354593, 
ENST00000474571, ENST00000261023, 
ENST00000374907, ENST00000433736, 
Fusion gene scores for assessment (based on all fusion genes of FusionGDB 2.0)* DoF score2 X 2 X 2=89 X 8 X 6=432
# samples 29
** MAII scorelog2(2/8*10)=1.32192809488736log2(9/432*10)=-2.26303440583379
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context (manual curation of fusion genes in FusionPDB)

PubMed: CYP3A4 [Title/Abstract] AND ITGAV [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpoint (based on all fusion genes of FusionGDB 2.0)CYP3A4(99381634)-ITGAV(187540331), # samples:1
Anticipated loss of major functional domain due to fusion event.CYP3A4-ITGAV 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.
CYP3A4-ITGAV 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
HgeneCYP3A4

GO:0002933

lipid hydroxylation

14559847

HgeneCYP3A4

GO:0008202

steroid metabolic process

14559847

HgeneCYP3A4

GO:0008210

estrogen metabolic process

11555828|12865317|14559847

HgeneCYP3A4

GO:0009822

alkaloid catabolic process

15039299

HgeneCYP3A4

GO:0016098

monoterpenoid metabolic process

16401082

HgeneCYP3A4

GO:0017144

drug metabolic process

15327587|19219744

HgeneCYP3A4

GO:0042572

retinol metabolic process

10681376

HgeneCYP3A4

GO:0042573

retinoic acid metabolic process

11093772

HgeneCYP3A4

GO:0042737

drug catabolic process

15039299

HgeneCYP3A4

GO:0042738

exogenous drug catabolic process

18619574

HgeneCYP3A4

GO:0046483

heterocycle metabolic process

15327587

HgeneCYP3A4

GO:0055114

oxidation-reduction process

16401082|19219744

HgeneCYP3A4

GO:0070989

oxidative demethylation

15039299|18619574

TgeneITGAV

GO:0007155

cell adhesion

10218736

TgeneITGAV

GO:0008284

positive regulation of cell proliferation

19578119

TgeneITGAV

GO:0033627

cell adhesion mediated by integrin

12807887|17158881

TgeneITGAV

GO:0034446

substrate adhesion-dependent cell spreading

24658351

TgeneITGAV

GO:0045785

positive regulation of cell adhesion

10708943

TgeneITGAV

GO:0050764

regulation of phagocytosis

10570297

TgeneITGAV

GO:0070588

calcium ion transmembrane transport

18395422

TgeneITGAV

GO:1901388

regulation of transforming growth factor beta activation

22278742

TgeneITGAV

GO:2000536

negative regulation of entry of bacterium into host cell

10570297


check buttonFusion gene breakpoints across CYP3A4 (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 ITGAV (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
ChimerDB4Non-CancerERR315457CYP3A4chr7

99381634

-ITGAVchr2

187540331

+


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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)
ENST00000354593CYP3A4chr799381634-ENST00000261023ITGAVchr2187540331+4225175136615159
ENST00000354593CYP3A4chr799381634-ENST00000374907ITGAVchr2187540331+4221175136615159
ENST00000354593CYP3A4chr799381634-ENST00000433736ITGAVchr2187540331+765175136615159
ENST00000336411CYP3A4chr799381634-ENST00000261023ITGAVchr2187540331+4305255216695159
ENST00000336411CYP3A4chr799381634-ENST00000374907ITGAVchr2187540331+4301255216695159
ENST00000336411CYP3A4chr799381634-ENST00000433736ITGAVchr2187540331+845255216695159

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
ENST00000354593ENST00000261023CYP3A4chr799381634-ITGAVchr2187540331+0.098548770.9014513
ENST00000354593ENST00000374907CYP3A4chr799381634-ITGAVchr2187540331+0.0305976330.9694024
ENST00000354593ENST00000433736CYP3A4chr799381634-ITGAVchr2187540331+0.0592445170.94075555
ENST00000336411ENST00000261023CYP3A4chr799381634-ITGAVchr2187540331+0.095205350.90479463
ENST00000336411ENST00000374907CYP3A4chr799381634-ITGAVchr2187540331+0.0295335910.97046643
ENST00000336411ENST00000433736CYP3A4chr799381634-ITGAVchr2187540331+0.0469076150.95309234

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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

>21072_21072_1_CYP3A4-ITGAV_CYP3A4_chr7_99381634_ENST00000336411_ITGAV_chr2_187540331_ENST00000261023_length(amino acids)=159AA_BP=13
MASPGCQPGAPLSGCGVAQCLKIVCQVGRLDRGKSAILYVKSLLWTETFMNKENQNHSYSLKSSASFNVIEFPYKNLPIEDITNSTLVTT

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

>21072_21072_2_CYP3A4-ITGAV_CYP3A4_chr7_99381634_ENST00000336411_ITGAV_chr2_187540331_ENST00000374907_length(amino acids)=159AA_BP=13
MASPGCQPGAPLSGCGVAQCLKIVCQVGRLDRGKSAILYVKSLLWTETFMNKENQNHSYSLKSSASFNVIEFPYKNLPIEDITNSTLVTT

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

>21072_21072_3_CYP3A4-ITGAV_CYP3A4_chr7_99381634_ENST00000336411_ITGAV_chr2_187540331_ENST00000433736_length(amino acids)=159AA_BP=13
MASPGCQPGAPLSGCGVAQCLKIVCQVGRLDRGKSAILYVKSLLWTETFMNKENQNHSYSLKSSASFNVIEFPYKNLPIEDITNSTLVTT

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

>21072_21072_4_CYP3A4-ITGAV_CYP3A4_chr7_99381634_ENST00000354593_ITGAV_chr2_187540331_ENST00000261023_length(amino acids)=159AA_BP=13
MASPGCQPGAPLSGCGVAQCLKIVCQVGRLDRGKSAILYVKSLLWTETFMNKENQNHSYSLKSSASFNVIEFPYKNLPIEDITNSTLVTT

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

>21072_21072_5_CYP3A4-ITGAV_CYP3A4_chr7_99381634_ENST00000354593_ITGAV_chr2_187540331_ENST00000374907_length(amino acids)=159AA_BP=13
MASPGCQPGAPLSGCGVAQCLKIVCQVGRLDRGKSAILYVKSLLWTETFMNKENQNHSYSLKSSASFNVIEFPYKNLPIEDITNSTLVTT

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

>21072_21072_6_CYP3A4-ITGAV_CYP3A4_chr7_99381634_ENST00000354593_ITGAV_chr2_187540331_ENST00000433736_length(amino acids)=159AA_BP=13
MASPGCQPGAPLSGCGVAQCLKIVCQVGRLDRGKSAILYVKSLLWTETFMNKENQNHSYSLKSSASFNVIEFPYKNLPIEDITNSTLVTT

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

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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/chr7:99381634/chr2:187540331)
- 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
CYP3A4

Q9HB55

ITGAV

P06756

FUNCTION: Exhibits low testosterone 6-beta-hydroxylase activity.FUNCTION: The alpha-V (ITGAV) integrins are receptors for vitronectin, cytotactin, fibronectin, fibrinogen, laminin, matrix metalloproteinase-2, osteopontin, osteomodulin, prothrombin, thrombospondin and vWF. They recognize the sequence R-G-D in a wide array of ligands. ITGAV:ITGB3 binds to fractalkine (CX3CL1) and may act as its coreceptor in CX3CR1-dependent fractalkine signaling (PubMed:23125415). ITGAV:ITGB3 binds to NRG1 (via EGF domain) and this binding is essential for NRG1-ERBB signaling (PubMed:20682778). ITGAV:ITGB3 binds to FGF1 and this binding is essential for FGF1 signaling (PubMed:18441324). ITGAV:ITGB3 binds to FGF2 and this binding is essential for FGF2 signaling (PubMed:28302677). ITGAV:ITGB3 binds to IGF1 and this binding is essential for IGF1 signaling (PubMed:19578119). ITGAV:ITGB3 binds to IGF2 and this binding is essential for IGF2 signaling (PubMed:28873464). ITGAV:ITGB3 binds to IL1B and this binding is essential for IL1B signaling (PubMed:29030430). ITGAV:ITGB3 binds to PLA2G2A via a site (site 2) which is distinct from the classical ligand-binding site (site 1) and this induces integrin conformational changes and enhanced ligand binding to site 1 (PubMed:18635536, PubMed:25398877). ITGAV:ITGB3 and ITGAV:ITGB6 act as a receptor for fibrillin-1 (FBN1) and mediate R-G-D-dependent cell adhesion to FBN1 (PubMed:12807887, PubMed:17158881). Integrin alpha-V/beta-6 or alpha-V/beta-8 (ITGAV:ITGB6 or ITGAV:ITGB8) mediates R-G-D-dependent release of transforming growth factor beta-1 (TGF-beta-1) from regulatory Latency-associated peptide (LAP), thereby playing a key role in TGF-beta-1 activation (PubMed:15184403, PubMed:22278742, PubMed:28117447). ITGAV:ITGB3 act as a receptor for CD40LG (PubMed:31331973). {ECO:0000269|PubMed:12807887, ECO:0000269|PubMed:15184403, ECO:0000269|PubMed:17158881, ECO:0000269|PubMed:18441324, ECO:0000269|PubMed:18635536, ECO:0000269|PubMed:19578119, ECO:0000269|PubMed:20682778, ECO:0000269|PubMed:22278742, ECO:0000269|PubMed:23125415, ECO:0000269|PubMed:25398877, ECO:0000269|PubMed:28117447, ECO:0000269|PubMed:28302677, ECO:0000269|PubMed:28873464, ECO:0000269|PubMed:29030430, ECO:0000269|PubMed:31331973}.; FUNCTION: (Microbial infection) Integrin ITGAV:ITGB5 acts as a receptor for Adenovirus type C. {ECO:0000269|PubMed:20615244}.; FUNCTION: (Microbial infection) Integrin ITGAV:ITGB5 and ITGAV:ITGB3 act as receptors for Coxsackievirus A9 and B1. {ECO:0000269|PubMed:15194773, ECO:0000269|PubMed:7519807, ECO:0000269|PubMed:9426447}.; FUNCTION: (Microbial infection) Integrin ITGAV:ITGB3 acts as a receptor for Herpes virus 8/HHV-8. {ECO:0000269|PubMed:18045938}.; FUNCTION: (Microbial infection) Integrin ITGAV:ITGB6 acts as a receptor for herpes simplex 1/HHV-1. {ECO:0000269|PubMed:24367260}.; FUNCTION: (Microbial infection) Integrin ITGAV:ITGB3 acts as a receptor for Human parechovirus 1. {ECO:0000269|PubMed:11160695}.; FUNCTION: (Microbial infection) Integrin ITGAV:ITGB3 acts as a receptor for West nile virus. {ECO:0000269|PubMed:23658209}.; FUNCTION: (Microbial infection) In case of HIV-1 infection, the interaction with extracellular viral Tat protein seems to enhance angiogenesis in Kaposi's sarcoma lesions. {ECO:0000269|PubMed:10397733}.

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
HgeneCYP3A4chr7:99381634chr2:187540331ENST00000336411-1132_2223.666666666666668504.0TransmembraneHelical
TgeneITGAVchr7:99381634chr2:187540331ENST0000026102325301019_1023902.01049.0MotifNote=GFFKR motif
TgeneITGAVchr7:99381634chr2:187540331ENST0000037490723281019_1023866.01013.0MotifNote=GFFKR motif
TgeneITGAVchr7:99381634chr2:187540331ENST0000043373625301019_1023856.01003.0MotifNote=GFFKR motif
TgeneITGAVchr7:99381634chr2:187540331ENST0000026102325301017_1048902.01049.0Topological domainCytoplasmic
TgeneITGAVchr7:99381634chr2:187540331ENST0000037490723281017_1048866.01013.0Topological domainCytoplasmic
TgeneITGAVchr7:99381634chr2:187540331ENST0000043373625301017_1048856.01003.0Topological domainCytoplasmic
TgeneITGAVchr7:99381634chr2:187540331ENST000002610232530993_1016902.01049.0TransmembraneHelical
TgeneITGAVchr7:99381634chr2:187540331ENST000003749072328993_1016866.01013.0TransmembraneHelical
TgeneITGAVchr7:99381634chr2:187540331ENST000004337362530993_1016856.01003.0TransmembraneHelical

- Not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
TgeneITGAVchr7:99381634chr2:187540331ENST000002610232530260_268902.01049.0Calcium bindingOntology_term=ECO:0000255,ECO:0000269
TgeneITGAVchr7:99381634chr2:187540331ENST000002610232530314_322902.01049.0Calcium bindingOntology_term=ECO:0000255,ECO:0000269
TgeneITGAVchr7:99381634chr2:187540331ENST000002610232530379_387902.01049.0Calcium bindingOntology_term=ECO:0000255,ECO:0000269
TgeneITGAVchr7:99381634chr2:187540331ENST000002610232530443_451902.01049.0Calcium bindingOntology_term=ECO:0000255,ECO:0000269
TgeneITGAVchr7:99381634chr2:187540331ENST000003749072328260_268866.01013.0Calcium bindingOntology_term=ECO:0000255,ECO:0000269
TgeneITGAVchr7:99381634chr2:187540331ENST000003749072328314_322866.01013.0Calcium bindingOntology_term=ECO:0000255,ECO:0000269
TgeneITGAVchr7:99381634chr2:187540331ENST000003749072328379_387866.01013.0Calcium bindingOntology_term=ECO:0000255,ECO:0000269
TgeneITGAVchr7:99381634chr2:187540331ENST000003749072328443_451866.01013.0Calcium bindingOntology_term=ECO:0000255,ECO:0000269
TgeneITGAVchr7:99381634chr2:187540331ENST000004337362530260_268856.01003.0Calcium bindingOntology_term=ECO:0000255,ECO:0000269
TgeneITGAVchr7:99381634chr2:187540331ENST000004337362530314_322856.01003.0Calcium bindingOntology_term=ECO:0000255,ECO:0000269
TgeneITGAVchr7:99381634chr2:187540331ENST000004337362530379_387856.01003.0Calcium bindingOntology_term=ECO:0000255,ECO:0000269
TgeneITGAVchr7:99381634chr2:187540331ENST000004337362530443_451856.01003.0Calcium bindingOntology_term=ECO:0000255,ECO:0000269
TgeneITGAVchr7:99381634chr2:187540331ENST000002610232530109_170902.01049.0RepeatFG-GAP 2
TgeneITGAVchr7:99381634chr2:187540331ENST000002610232530173_225902.01049.0RepeatFG-GAP 3
TgeneITGAVchr7:99381634chr2:187540331ENST000002610232530237_291902.01049.0RepeatFG-GAP 4
TgeneITGAVchr7:99381634chr2:187540331ENST000002610232530292_357902.01049.0RepeatFG-GAP 5
TgeneITGAVchr7:99381634chr2:187540331ENST00000261023253032_98902.01049.0RepeatFG-GAP 1
TgeneITGAVchr7:99381634chr2:187540331ENST000002610232530358_415902.01049.0RepeatFG-GAP 6
TgeneITGAVchr7:99381634chr2:187540331ENST000002610232530419_482902.01049.0RepeatFG-GAP 7
TgeneITGAVchr7:99381634chr2:187540331ENST000003749072328109_170866.01013.0RepeatFG-GAP 2
TgeneITGAVchr7:99381634chr2:187540331ENST000003749072328173_225866.01013.0RepeatFG-GAP 3
TgeneITGAVchr7:99381634chr2:187540331ENST000003749072328237_291866.01013.0RepeatFG-GAP 4
TgeneITGAVchr7:99381634chr2:187540331ENST000003749072328292_357866.01013.0RepeatFG-GAP 5
TgeneITGAVchr7:99381634chr2:187540331ENST00000374907232832_98866.01013.0RepeatFG-GAP 1
TgeneITGAVchr7:99381634chr2:187540331ENST000003749072328358_415866.01013.0RepeatFG-GAP 6
TgeneITGAVchr7:99381634chr2:187540331ENST000003749072328419_482866.01013.0RepeatFG-GAP 7
TgeneITGAVchr7:99381634chr2:187540331ENST000004337362530109_170856.01003.0RepeatFG-GAP 2
TgeneITGAVchr7:99381634chr2:187540331ENST000004337362530173_225856.01003.0RepeatFG-GAP 3
TgeneITGAVchr7:99381634chr2:187540331ENST000004337362530237_291856.01003.0RepeatFG-GAP 4
TgeneITGAVchr7:99381634chr2:187540331ENST000004337362530292_357856.01003.0RepeatFG-GAP 5
TgeneITGAVchr7:99381634chr2:187540331ENST00000433736253032_98856.01003.0RepeatFG-GAP 1
TgeneITGAVchr7:99381634chr2:187540331ENST000004337362530358_415856.01003.0RepeatFG-GAP 6
TgeneITGAVchr7:99381634chr2:187540331ENST000004337362530419_482856.01003.0RepeatFG-GAP 7
TgeneITGAVchr7:99381634chr2:187540331ENST00000261023253031_992902.01049.0Topological domainExtracellular
TgeneITGAVchr7:99381634chr2:187540331ENST00000374907232831_992866.01013.0Topological domainExtracellular
TgeneITGAVchr7:99381634chr2:187540331ENST00000433736253031_992856.01003.0Topological 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


check button Protein-protein interactors based on sequence similarity (STRING)
GeneSTRING network
CYP3A4
ITGAV


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 CYP3A4-ITGAV


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 CYP3A4-ITGAV


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