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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:AHRR-AVIL

Fusion Protein Summary

check button Fusion gene summary
Fusion partner gene informationFusion gene name: AHRR-AVIL
FusionPDB ID: 3138
FusionGDB2.0 ID: 3138
HgeneTgene
Gene symbol

AHRR

AVIL

Gene ID

57491

10677

Gene namearyl-hydrocarbon receptor repressoradvillin
SynonymsAHH|AHHR|bHLHe77ADVIL|DOC6|NPHS21|p92
Cytomap

5p15.33

12q14.1

Type of geneprotein-codingprotein-coding
Descriptionaryl hydrocarbon receptor repressorahR repressoraryl hydrocarbon hydroxylase regulatorclass E basic helix-loop-helix protein 77dioxin receptor repressoradvillin
Modification date2020032220200313
UniProtAcc

A9YTQ3

O75366

Ensembl transtripts involved in fusion geneENST idsENST00000316418, ENST00000505113, 
ENST00000506456, ENST00000512529, 
ENST00000515206, 
ENST00000550083, 
ENST00000257861, ENST00000537081, 
Fusion gene scores for assessment (based on all fusion genes of FusionGDB 2.0)* DoF score6 X 6 X 4=14420 X 12 X 9=2160
# samples 720
** MAII scorelog2(7/144*10)=-1.04064198449735
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(20/2160*10)=-3.43295940727611
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context (manual curation of fusion genes in FusionPDB)

PubMed: AHRR [Title/Abstract] AND AVIL [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpoint (based on all fusion genes of FusionGDB 2.0)AHRR(376831)-AVIL(58193703), # samples:3
Anticipated loss of major functional domain due to fusion event.AHRR-AVIL 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.
AHRR-AVIL 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.
AHRR-AVIL 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.
AHRR-AVIL 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

check buttonFusion gene breakpoints across AHRR (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 AVIL (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
ChimerDB4SARCTCGA-DX-A2IZ-01AAHRRchr5

376831

-AVILchr12

58193703

-
ChimerDB4SARCTCGA-DX-A2IZ-01AAHRRchr5

376831

+AVILchr12

58193703

-


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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)
ENST00000505113AHRRchr5376831+ENST00000537081AVILchr1258193703-114740744646200
ENST00000505113AHRRchr5376831+ENST00000257861AVILchr1258193703-64740744646201
ENST00000316418AHRRchr5376831+ENST00000537081AVILchr1258193703-114740744646200
ENST00000316418AHRRchr5376831+ENST00000257861AVILchr1258193703-64740744646201

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
ENST00000505113ENST00000537081AHRRchr5376831+AVILchr1258193703-0.0071976710.9928023
ENST00000505113ENST00000257861AHRRchr5376831+AVILchr1258193703-0.0116397890.98836017
ENST00000316418ENST00000537081AHRRchr5376831+AVILchr1258193703-0.0071976710.9928023
ENST00000316418ENST00000257861AHRRchr5376831+AVILchr1258193703-0.0116397890.98836017

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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

>3138_3138_1_AHRR-AVIL_AHRR_chr5_376831_ENST00000316418_AVIL_chr12_58193703_ENST00000257861_length(amino acids)=201AA_BP=121
MPRTMIPPGECTYAGRKRRRPLQKQRPAVGAEKSNPSKRHRDRLNAELDHLASLLPFPPDIISKLDKLSVLRLSVSYLRVKSFFQVVQEQ
SSRQPAAGAPSPGDSCPLAGSAVLEGRLLLEDMKNATLSLNSNDSEPKYYPIAVLLKNQNQELPEDVNPAKKENYLSEQDFVSVFGITRG

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

>3138_3138_2_AHRR-AVIL_AHRR_chr5_376831_ENST00000316418_AVIL_chr12_58193703_ENST00000537081_length(amino acids)=200AA_BP=121
MPRTMIPPGECTYAGRKRRRPLQKQRPAVGAEKSNPSKRHRDRLNAELDHLASLLPFPPDIISKLDKLSVLRLSVSYLRVKSFFQVVQEQ
SSRQPAAGAPSPGDSCPLAGSAVLEGRLLLEDMKNATLSLNSNDSEPKYYPIAVLLKNQNQELPEDVNPAKKENYLSEQDFVSVFGITRG

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

>3138_3138_3_AHRR-AVIL_AHRR_chr5_376831_ENST00000505113_AVIL_chr12_58193703_ENST00000257861_length(amino acids)=201AA_BP=121
MPRTMIPPGECTYAGRKRRRPLQKQRPAVGAEKSNPSKRHRDRLNAELDHLASLLPFPPDIISKLDKLSVLRLSVSYLRVKSFFQVVQEQ
SSRQPAAGAPSPGDSCPLAGSAVLEGRLLLEDMKNATLSLNSNDSEPKYYPIAVLLKNQNQELPEDVNPAKKENYLSEQDFVSVFGITRG

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

>3138_3138_4_AHRR-AVIL_AHRR_chr5_376831_ENST00000505113_AVIL_chr12_58193703_ENST00000537081_length(amino acids)=200AA_BP=121
MPRTMIPPGECTYAGRKRRRPLQKQRPAVGAEKSNPSKRHRDRLNAELDHLASLLPFPPDIISKLDKLSVLRLSVSYLRVKSFFQVVQEQ
SSRQPAAGAPSPGDSCPLAGSAVLEGRLLLEDMKNATLSLNSNDSEPKYYPIAVLLKNQNQELPEDVNPAKKENYLSEQDFVSVFGITRG

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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/chr5:376831/chr12:58193703)
- 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
AHRR

A9YTQ3

AVIL

O75366

FUNCTION: Mediates dioxin toxicity and is involved in regulation of cell growth and differentiation. Represses the transcription activity of AHR by competing with this transcription factor for heterodimer formation with the ARNT and subsequently binding to the xenobiotic response element (XRE) sequence present in the promoter regulatory region of variety of genes. Represses CYP1A1 by binding the XRE sequence and recruiting ANKRA2, HDAC4 and/or HDAC5. Autoregulates its expression by associating with its own XRE site. {ECO:0000269|PubMed:17890447, ECO:0000269|PubMed:18172554}.FUNCTION: Ca(2+)-regulated actin-binding protein which plays an important role in actin bundling (PubMed:29058690). May have a unique function in the morphogenesis of neuronal cells which form ganglia. Required for SREC1-mediated regulation of neurite-like outgrowth. Plays a role in regenerative sensory axon outgrowth and remodeling processes after peripheral injury in neonates. Involved in the formation of long fine actin-containing filopodia-like structures in fibroblast. Plays a role in ciliogenesis. In podocytes, controls lamellipodia formation through the regulation of EGF-induced diacylglycerol generation by PLCE1 and ARP2/3 complex assembly (PubMed:29058690). {ECO:0000269|PubMed:20393563, ECO:0000269|PubMed:29058690}.

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
HgeneAHRRchr5:376831chr12:58193703ENST00000316418+41228_81121.0720.0DomainbHLH
HgeneAHRRchr5:376831chr12:58193703ENST00000505113+41128_81121.0702.0DomainbHLH
TgeneAVILchr5:376831chr12:58193703ENST000002578611619753_819740.0820.0DomainHP
TgeneAVILchr5:376831chr12:58193703ENST000005370811619753_819733.0813.0DomainHP
TgeneAVILchr5:376831chr12:58193703ENST000005370811619731_819733.0813.0RegionHeadpiece

- Not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgeneAHRRchr5:376831chr12:58193703ENST00000316418+412112_182121.0720.0DomainPAS
HgeneAHRRchr5:376831chr12:58193703ENST00000505113+411112_182121.0702.0DomainPAS
HgeneAHRRchr5:376831chr12:58193703ENST00000316418+412551_701121.0720.0RegionNeeded for transcriptional repression
HgeneAHRRchr5:376831chr12:58193703ENST00000505113+411551_701121.0702.0RegionNeeded for transcriptional repression
TgeneAVILchr5:376831chr12:58193703ENST000002578611619109_116740.0820.0RegionPolyphosphoinositide binding
TgeneAVILchr5:376831chr12:58193703ENST000002578611619135_143740.0820.0RegionPolyphosphoinositide binding
TgeneAVILchr5:376831chr12:58193703ENST0000025786116191_731740.0820.0RegionCore
TgeneAVILchr5:376831chr12:58193703ENST000002578611619731_819740.0820.0RegionHeadpiece
TgeneAVILchr5:376831chr12:58193703ENST000005370811619109_116733.0813.0RegionPolyphosphoinositide binding
TgeneAVILchr5:376831chr12:58193703ENST000005370811619135_143733.0813.0RegionPolyphosphoinositide binding
TgeneAVILchr5:376831chr12:58193703ENST0000053708116191_731733.0813.0RegionCore
TgeneAVILchr5:376831chr12:58193703ENST000002578611619145_185740.0820.0RepeatNote=Gelsolin-like 2
TgeneAVILchr5:376831chr12:58193703ENST00000257861161924_73740.0820.0RepeatNote=Gelsolin-like 1
TgeneAVILchr5:376831chr12:58193703ENST000002578611619262_306740.0820.0RepeatNote=Gelsolin-like 3
TgeneAVILchr5:376831chr12:58193703ENST000002578611619403_454740.0820.0RepeatNote=Gelsolin-like 4
TgeneAVILchr5:376831chr12:58193703ENST000002578611619525_565740.0820.0RepeatNote=Gelsolin-like 5
TgeneAVILchr5:376831chr12:58193703ENST000002578611619628_669740.0820.0RepeatNote=Gelsolin-like 6
TgeneAVILchr5:376831chr12:58193703ENST000005370811619145_185733.0813.0RepeatNote=Gelsolin-like 2
TgeneAVILchr5:376831chr12:58193703ENST00000537081161924_73733.0813.0RepeatNote=Gelsolin-like 1
TgeneAVILchr5:376831chr12:58193703ENST000005370811619262_306733.0813.0RepeatNote=Gelsolin-like 3
TgeneAVILchr5:376831chr12:58193703ENST000005370811619403_454733.0813.0RepeatNote=Gelsolin-like 4
TgeneAVILchr5:376831chr12:58193703ENST000005370811619525_565733.0813.0RepeatNote=Gelsolin-like 5
TgeneAVILchr5:376831chr12:58193703ENST000005370811619628_669733.0813.0RepeatNote=Gelsolin-like 6


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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
AHRR
AVIL


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 AHRR-AVIL


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 AHRR-AVIL


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