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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:AVL9-ERC1

Fusion Protein Summary

check button Fusion gene summary
Fusion partner gene informationFusion gene name: AVL9-ERC1
FusionPDB ID: 8541
FusionGDB2.0 ID: 8541
HgeneTgene
Gene symbol

AVL9

ERC1

Gene ID

23080

23085

Gene nameAVL9 cell migration associatedELKS/RAB6-interacting/CAST family member 1
SynonymsKIAA0241Cast2|ELKS|ERC-1|RAB6IP2
Cytomap

7p14.3

12p13.33

Type of geneprotein-codingprotein-coding
Descriptionlate secretory pathway protein AVL9 homologAVL9 homolog (S. cerevisiase)ELKS/Rab6-interacting/CAST family member 1RAB6 interacting protein 2
Modification date2020031320200313
UniProtAcc

Q8NBF6

Q8IUD2

Ensembl transtripts involved in fusion geneENST idsENST00000459629, ENST00000318709, 
ENST00000404479, ENST00000409301, 
ENST00000355446, ENST00000360905, 
ENST00000397203, ENST00000543086, 
ENST00000546231, ENST00000589028, 
ENST00000536573, 
Fusion gene scores for assessment (based on all fusion genes of FusionGDB 2.0)* DoF score10 X 3 X 7=21023 X 29 X 12=8004
# samples 1233
** MAII scorelog2(12/210*10)=-0.807354922057604
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(33/8004*10)=-4.60018323765993
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context (manual curation of fusion genes in FusionPDB)

PubMed: AVL9 [Title/Abstract] AND ERC1 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpoint (based on all fusion genes of FusionGDB 2.0)AVL9(32535414)-ERC1(1517315), # samples:1
Anticipated loss of major functional domain due to fusion event.AVL9-ERC1 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.
AVL9-ERC1 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.
AVL9-ERC1 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.
AVL9-ERC1 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
HgeneAVL9

GO:0016477

cell migration

22595670

TgeneERC1

GO:0007252

I-kappaB phosphorylation

15218148


check buttonFusion gene breakpoints across AVL9 (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 ERC1 (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-CD-5798-01AAVL9chr7

32535414

+ERC1chr12

1517315

+


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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)
ENST00000404479AVL9chr732535414+ENST00000543086ERC1chr121517315+6222930518172
ENST00000404479AVL9chr732535414+ENST00000546231ERC1chr121517315+1018930518172
ENST00000404479AVL9chr732535414+ENST00000397203ERC1chr121517315+6213930518172
ENST00000404479AVL9chr732535414+ENST00000360905ERC1chr121517315+2776930518172
ENST00000404479AVL9chr732535414+ENST00000589028ERC1chr121517315+6213930518172
ENST00000404479AVL9chr732535414+ENST00000355446ERC1chr121517315+2832931396908162
ENST00000318709AVL9chr732535414+ENST00000543086ERC1chr121517315+6443314221739172
ENST00000318709AVL9chr732535414+ENST00000546231ERC1chr121517315+1239314221739172
ENST00000318709AVL9chr732535414+ENST00000397203ERC1chr121517315+6434314221739172
ENST00000318709AVL9chr732535414+ENST00000360905ERC1chr121517315+2997314221739172
ENST00000318709AVL9chr732535414+ENST00000589028ERC1chr121517315+6434314221739172
ENST00000318709AVL9chr732535414+ENST00000355446ERC1chr121517315+305331416171129162
ENST00000409301AVL9chr732535414+ENST00000543086ERC1chr121517315+6406277184702172
ENST00000409301AVL9chr732535414+ENST00000546231ERC1chr121517315+1202277184702172
ENST00000409301AVL9chr732535414+ENST00000397203ERC1chr121517315+6397277184702172
ENST00000409301AVL9chr732535414+ENST00000360905ERC1chr121517315+2960277184702172
ENST00000409301AVL9chr732535414+ENST00000589028ERC1chr121517315+6397277184702172
ENST00000409301AVL9chr732535414+ENST00000355446ERC1chr121517315+301627715801092162

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
ENST00000404479ENST00000543086AVL9chr732535414+ERC1chr121517315+0.0037818590.99621814
ENST00000404479ENST00000546231AVL9chr732535414+ERC1chr121517315+0.0022896050.99771035
ENST00000404479ENST00000397203AVL9chr732535414+ERC1chr121517315+0.0045640120.995436
ENST00000404479ENST00000360905AVL9chr732535414+ERC1chr121517315+0.0026177730.9973822
ENST00000404479ENST00000589028AVL9chr732535414+ERC1chr121517315+0.0045640120.995436
ENST00000404479ENST00000355446AVL9chr732535414+ERC1chr121517315+0.0096507730.9903493
ENST00000318709ENST00000543086AVL9chr732535414+ERC1chr121517315+0.0037406320.99625933
ENST00000318709ENST00000546231AVL9chr732535414+ERC1chr121517315+0.0031119610.996888
ENST00000318709ENST00000397203AVL9chr732535414+ERC1chr121517315+0.0045212850.9954787
ENST00000318709ENST00000360905AVL9chr732535414+ERC1chr121517315+0.0036299060.9963701
ENST00000318709ENST00000589028AVL9chr732535414+ERC1chr121517315+0.0045212850.9954787
ENST00000318709ENST00000355446AVL9chr732535414+ERC1chr121517315+0.0145911530.98540884
ENST00000409301ENST00000543086AVL9chr732535414+ERC1chr121517315+0.0037768470.9962231
ENST00000409301ENST00000546231AVL9chr732535414+ERC1chr121517315+0.0039631810.9960368
ENST00000409301ENST00000397203AVL9chr732535414+ERC1chr121517315+0.0045589210.9954411
ENST00000409301ENST00000360905AVL9chr732535414+ERC1chr121517315+0.0028482990.9971517
ENST00000409301ENST00000589028AVL9chr732535414+ERC1chr121517315+0.0045589210.9954411
ENST00000409301ENST00000355446AVL9chr732535414+ERC1chr121517315+0.014751960.9852481

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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

>8541_8541_1_AVL9-ERC1_AVL9_chr7_32535414_ENST00000318709_ERC1_chr12_1517315_ENST00000355446_length(amino acids)=162AA_BP=
MAGALSTSHVLQLEIFDLTPQYDNVNSLKQERLVENTSHHLLVNWPRNRVRKAATDRQGWMKTQTLGERVLPSHREACSQLPGTKHLMWK

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

>8541_8541_2_AVL9-ERC1_AVL9_chr7_32535414_ENST00000318709_ERC1_chr12_1517315_ENST00000360905_length(amino acids)=172AA_BP=31
MEKARRGGDGVPRGPVLHIVVVGFHHKKGCQTQNRMKLMADNYEDDHFKSSHSNQTNHKPSPDQIIQPLLELDQNRSKLKLYIGHLTTLC

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

>8541_8541_3_AVL9-ERC1_AVL9_chr7_32535414_ENST00000318709_ERC1_chr12_1517315_ENST00000397203_length(amino acids)=172AA_BP=31
MEKARRGGDGVPRGPVLHIVVVGFHHKKGCQTQNRMKLMADNYEDDHFKSSHSNQTNHKPSPDQIIQPLLELDQNRSKLKLYIGHLTTLC

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

>8541_8541_4_AVL9-ERC1_AVL9_chr7_32535414_ENST00000318709_ERC1_chr12_1517315_ENST00000543086_length(amino acids)=172AA_BP=31
MEKARRGGDGVPRGPVLHIVVVGFHHKKGCQTQNRMKLMADNYEDDHFKSSHSNQTNHKPSPDQIIQPLLELDQNRSKLKLYIGHLTTLC

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

>8541_8541_5_AVL9-ERC1_AVL9_chr7_32535414_ENST00000318709_ERC1_chr12_1517315_ENST00000546231_length(amino acids)=172AA_BP=31
MEKARRGGDGVPRGPVLHIVVVGFHHKKGCQTQNRMKLMADNYEDDHFKSSHSNQTNHKPSPDQIIQPLLELDQNRSKLKLYIGHLTTLC

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

>8541_8541_6_AVL9-ERC1_AVL9_chr7_32535414_ENST00000318709_ERC1_chr12_1517315_ENST00000589028_length(amino acids)=172AA_BP=31
MEKARRGGDGVPRGPVLHIVVVGFHHKKGCQTQNRMKLMADNYEDDHFKSSHSNQTNHKPSPDQIIQPLLELDQNRSKLKLYIGHLTTLC

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

>8541_8541_7_AVL9-ERC1_AVL9_chr7_32535414_ENST00000404479_ERC1_chr12_1517315_ENST00000355446_length(amino acids)=162AA_BP=
MAGALSTSHVLQLEIFDLTPQYDNVNSLKQERLVENTSHHLLVNWPRNRVRKAATDRQGWMKTQTLGERVLPSHREACSQLPGTKHLMWK

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

>8541_8541_8_AVL9-ERC1_AVL9_chr7_32535414_ENST00000404479_ERC1_chr12_1517315_ENST00000360905_length(amino acids)=172AA_BP=31
MEKARRGGDGVPRGPVLHIVVVGFHHKKGCQTQNRMKLMADNYEDDHFKSSHSNQTNHKPSPDQIIQPLLELDQNRSKLKLYIGHLTTLC

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

>8541_8541_9_AVL9-ERC1_AVL9_chr7_32535414_ENST00000404479_ERC1_chr12_1517315_ENST00000397203_length(amino acids)=172AA_BP=31
MEKARRGGDGVPRGPVLHIVVVGFHHKKGCQTQNRMKLMADNYEDDHFKSSHSNQTNHKPSPDQIIQPLLELDQNRSKLKLYIGHLTTLC

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

>8541_8541_10_AVL9-ERC1_AVL9_chr7_32535414_ENST00000404479_ERC1_chr12_1517315_ENST00000543086_length(amino acids)=172AA_BP=31
MEKARRGGDGVPRGPVLHIVVVGFHHKKGCQTQNRMKLMADNYEDDHFKSSHSNQTNHKPSPDQIIQPLLELDQNRSKLKLYIGHLTTLC

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

>8541_8541_11_AVL9-ERC1_AVL9_chr7_32535414_ENST00000404479_ERC1_chr12_1517315_ENST00000546231_length(amino acids)=172AA_BP=31
MEKARRGGDGVPRGPVLHIVVVGFHHKKGCQTQNRMKLMADNYEDDHFKSSHSNQTNHKPSPDQIIQPLLELDQNRSKLKLYIGHLTTLC

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

>8541_8541_12_AVL9-ERC1_AVL9_chr7_32535414_ENST00000404479_ERC1_chr12_1517315_ENST00000589028_length(amino acids)=172AA_BP=31
MEKARRGGDGVPRGPVLHIVVVGFHHKKGCQTQNRMKLMADNYEDDHFKSSHSNQTNHKPSPDQIIQPLLELDQNRSKLKLYIGHLTTLC

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

>8541_8541_13_AVL9-ERC1_AVL9_chr7_32535414_ENST00000409301_ERC1_chr12_1517315_ENST00000355446_length(amino acids)=162AA_BP=
MAGALSTSHVLQLEIFDLTPQYDNVNSLKQERLVENTSHHLLVNWPRNRVRKAATDRQGWMKTQTLGERVLPSHREACSQLPGTKHLMWK

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

>8541_8541_14_AVL9-ERC1_AVL9_chr7_32535414_ENST00000409301_ERC1_chr12_1517315_ENST00000360905_length(amino acids)=172AA_BP=31
MEKARRGGDGVPRGPVLHIVVVGFHHKKGCQTQNRMKLMADNYEDDHFKSSHSNQTNHKPSPDQIIQPLLELDQNRSKLKLYIGHLTTLC

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

>8541_8541_15_AVL9-ERC1_AVL9_chr7_32535414_ENST00000409301_ERC1_chr12_1517315_ENST00000397203_length(amino acids)=172AA_BP=31
MEKARRGGDGVPRGPVLHIVVVGFHHKKGCQTQNRMKLMADNYEDDHFKSSHSNQTNHKPSPDQIIQPLLELDQNRSKLKLYIGHLTTLC

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

>8541_8541_16_AVL9-ERC1_AVL9_chr7_32535414_ENST00000409301_ERC1_chr12_1517315_ENST00000543086_length(amino acids)=172AA_BP=31
MEKARRGGDGVPRGPVLHIVVVGFHHKKGCQTQNRMKLMADNYEDDHFKSSHSNQTNHKPSPDQIIQPLLELDQNRSKLKLYIGHLTTLC

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

>8541_8541_17_AVL9-ERC1_AVL9_chr7_32535414_ENST00000409301_ERC1_chr12_1517315_ENST00000546231_length(amino acids)=172AA_BP=31
MEKARRGGDGVPRGPVLHIVVVGFHHKKGCQTQNRMKLMADNYEDDHFKSSHSNQTNHKPSPDQIIQPLLELDQNRSKLKLYIGHLTTLC

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

>8541_8541_18_AVL9-ERC1_AVL9_chr7_32535414_ENST00000409301_ERC1_chr12_1517315_ENST00000589028_length(amino acids)=172AA_BP=31
MEKARRGGDGVPRGPVLHIVVVGFHHKKGCQTQNRMKLMADNYEDDHFKSSHSNQTNHKPSPDQIIQPLLELDQNRSKLKLYIGHLTTLC

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

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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/chr7:32535414/chr12:1517315)
- 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
AVL9

Q8NBF6

ERC1

Q8IUD2

FUNCTION: Functions in cell migration. {ECO:0000269|PubMed:22595670}.FUNCTION: Regulatory subunit of the IKK complex. Probably recruits IkappaBalpha/NFKBIA to the complex. May be involved in the organization of the cytomatrix at the nerve terminals active zone (CAZ) which regulates neurotransmitter release. May be involved in vesicle trafficking at the CAZ. May be involved in Rab-6 regulated endosomes to Golgi transport. {ECO:0000269|PubMed:15218148}.

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
TgeneERC1chr7:32535414chr12:1517315ENST0000036090515191060_1100975.01117.0Coiled coilOntology_term=ECO:0000255
TgeneERC1chr7:32535414chr12:1517315ENST0000039720315191060_1100975.01117.0Coiled coilOntology_term=ECO:0000255
TgeneERC1chr7:32535414chr12:1517315ENST0000054308614181060_1100947.01089.0Coiled coilOntology_term=ECO:0000255
TgeneERC1chr7:32535414chr12:1517315ENST0000058902814181060_1100975.01117.0Coiled coilOntology_term=ECO:0000255
TgeneERC1chr7:32535414chr12:1517315ENST0000036090515191046_1108975.01117.0DomainFIP-RBD
TgeneERC1chr7:32535414chr12:1517315ENST0000039720315191046_1108975.01117.0DomainFIP-RBD
TgeneERC1chr7:32535414chr12:1517315ENST0000054308614181046_1108947.01089.0DomainFIP-RBD
TgeneERC1chr7:32535414chr12:1517315ENST0000058902814181046_1108975.01117.0DomainFIP-RBD

- Not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgeneAVL9chr7:32535414chr12:1517315ENST00000318709+116173_34031.0649.0DomaincDENN
HgeneAVL9chr7:32535414chr12:1517315ENST00000318709+11617_16131.0649.0DomainuDENN
HgeneAVL9chr7:32535414chr12:1517315ENST00000318709+116342_59331.0649.0DomaindDENN
HgeneAVL9chr7:32535414chr12:1517315ENST00000318709+116214_23031.0649.0TransmembraneHelical
TgeneERC1chr7:32535414chr12:1517315ENST000003609051519144_988975.01117.0Coiled coilOntology_term=ECO:0000255
TgeneERC1chr7:32535414chr12:1517315ENST000003972031519144_988975.01117.0Coiled coilOntology_term=ECO:0000255
TgeneERC1chr7:32535414chr12:1517315ENST000005430861418144_988947.01089.0Coiled coilOntology_term=ECO:0000255
TgeneERC1chr7:32535414chr12:1517315ENST000005890281418144_988975.01117.0Coiled 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
ERC1YWHAG, TWF2, RAB6A, RAB6B, KBTBD7, IKBKB, MAP3K7, IKBKG, XIAP, ITSN2, RAD23A, SH3KBP1, CHUK, NFKBIA, CUL3, APP, ATP6V0D1, NCBP1, WDR4, ERC2, MYC, PAN2, CDK19, MAPK4, CDK20, LATS2, STK4, GFOD1, ADPRHL2, SNX2, MED4, EWSR1, SRPK2, OFD1, PCM1, CEP104, CEP162, CEP152, CEP128, CEP135, CEP89, CNTRL, FBF1, NINL, NIN, SCLT1, SASS6, DVL2, SLC16A6, KIF23, MAPRE1, RACGAP1, CHST15, PPP1R21, Actb, Cd2ap, Kif4, Myh9, Ckap5, MACROD1, PCGF1, NANOG, POU5F1, NHLRC2, CDH1, EYA4, TSHB, SPERT, TRIM25, BRCA1, LNX1, EFTUD2, MYO6, AGR2, KIAA1429, FLCN, DNAJC5, GBF1, DYNC1I2, BICD1, BICD2, APEX1, DYRK1A, nsp13, LMBR1L, PLEKHA4, CYLD, DUSP1, RASSF8, nsp16, nsp7, CIT, ANLN, KIF14, TRIM33, nsp13ab, nsp16ab, SEC62, ORF6, MKRN3, ACTR3, AGPS, AMOT, ANAPC2, CYP2C9, DCTN2, ERGIC2, GOLGA1, IMPDH2, KDM1A, KRT18, KRT19, KRT8, NDC80, NEFM, PEX14, PFN1, PXN, SEPT10, SYNE3, TMOD1, NAA40, VPS33A, NUP62, FTL, DES, YWHAQ, SERF2, YWHAB, ING1, CEP112, MFAP4, C15orf59, YWHAH, PIPSL, KRT38, KRT37, ATG16L1, TBC1D32, E, ATRX,


check button Protein-protein interactors based on sequence similarity (STRING)
GeneSTRING network
AVL9
ERC1all structure


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 AVL9-ERC1


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 AVL9-ERC1


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
TgeneERC1C0238463Papillary thyroid carcinoma1ORPHANET
TgeneERC1C4749581Distal monosomy 12p1ORPHANET