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Fusion Gene Summary

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Fusion Gene ORF analysis

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Fusion Genomic Features

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Fusion Protein Features

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Fusion Gene Sequence

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Fusion Gene PPI analysis

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Related Drugs

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Related Diseases

Fusion gene:AMOTL1-CCDC88B (FusionGDB2 ID:HG154810TG283234)

Fusion Gene Summary for AMOTL1-CCDC88B

check button Fusion gene summary
Fusion gene informationFusion gene name: AMOTL1-CCDC88B
Fusion gene ID: hg154810tg283234
HgeneTgene
Gene symbol

AMOTL1

CCDC88B

Gene ID

154810

283234

Gene nameangiomotin like 1coiled-coil domain containing 88B
SynonymsJEAPBRLZ|CCDC88|HKRP3|gipie
Cytomap('AMOTL1')('CCDC88B')

11q21

11q13.1

Type of geneprotein-codingprotein-coding
Descriptionangiomotin-like protein 1junction-enriched and associated proteincoiled-coil domain-containing protein 88B78 kDa glucose-regulated protein [GRP78]-interacting protein induced by ER stressGRP78-interacting protein induced by ER stressbrain leucine zipper domain-containing proteinbrain leucine zipper proteincoiled-c
Modification date2020031320200320
UniProtAcc

Q8IY63

.
Ensembl transtripts involved in fusion geneENST00000317829, ENST00000433060, 
ENST00000317837, ENST00000539727, 
Fusion gene scores* DoF score6 X 6 X 6=2164 X 6 X 4=96
# samples 75
** MAII scorelog2(7/216*10)=-1.6256044852185
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(5/96*10)=-0.941106310946431
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: AMOTL1 [Title/Abstract] AND CCDC88B [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointAMOTL1(94587247)-CCDC88B(64118948), # samples:4
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 button Fusion gene information
* 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
ChimerDB4LGGTCGA-FG-5963-01AAMOTL1chr11

94587247

-CCDC88Bchr11

64118948

+
ChimerDB4LGGTCGA-FG-5963-01AAMOTL1chr11

94587247

+CCDC88Bchr11

64118948

+
ChimerDB4LGGTCGA-FG-5963-02AAMOTL1chr11

94587247

-CCDC88Bchr11

64118948

+
ChimerDB4LGGTCGA-FG-5963AMOTL1chr11

94587247

+CCDC88Bchr11

64118948

+
ChimerDB4LGGTCGA-FG-5963AMOTL1chr11

94587247

+CCDC88Bchr11

64119601

+
ChimerDB4LGGTCGA-FG-5963AMOTL1chr11

94587247

+CCDC88Bchr11

64119602

+


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Fusion Gene ORF analysis for AMOTL1-CCDC88B

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
5CDS-3UTRENST00000317829ENST00000356786AMOTL1chr11

94587247

+CCDC88Bchr11

64118948

+
5CDS-3UTRENST00000317829ENST00000356786AMOTL1chr11

94587247

+CCDC88Bchr11

64119601

+
5CDS-3UTRENST00000317829ENST00000356786AMOTL1chr11

94587247

+CCDC88Bchr11

64119602

+
5CDS-3UTRENST00000317829ENST00000463837AMOTL1chr11

94587247

+CCDC88Bchr11

64118948

+
5CDS-3UTRENST00000317829ENST00000463837AMOTL1chr11

94587247

+CCDC88Bchr11

64119601

+
5CDS-3UTRENST00000317829ENST00000463837AMOTL1chr11

94587247

+CCDC88Bchr11

64119602

+
5CDS-3UTRENST00000433060ENST00000356786AMOTL1chr11

94587247

+CCDC88Bchr11

64118948

+
5CDS-3UTRENST00000433060ENST00000356786AMOTL1chr11

94587247

+CCDC88Bchr11

64119601

+
5CDS-3UTRENST00000433060ENST00000356786AMOTL1chr11

94587247

+CCDC88Bchr11

64119602

+
5CDS-3UTRENST00000433060ENST00000463837AMOTL1chr11

94587247

+CCDC88Bchr11

64118948

+
5CDS-3UTRENST00000433060ENST00000463837AMOTL1chr11

94587247

+CCDC88Bchr11

64119601

+
5CDS-3UTRENST00000433060ENST00000463837AMOTL1chr11

94587247

+CCDC88Bchr11

64119602

+
5CDS-5UTRENST00000317829ENST00000301897AMOTL1chr11

94587247

+CCDC88Bchr11

64118948

+
5CDS-5UTRENST00000317829ENST00000301897AMOTL1chr11

94587247

+CCDC88Bchr11

64119601

+
5CDS-5UTRENST00000317829ENST00000301897AMOTL1chr11

94587247

+CCDC88Bchr11

64119602

+
5CDS-5UTRENST00000317829ENST00000359902AMOTL1chr11

94587247

+CCDC88Bchr11

64118948

+
5CDS-5UTRENST00000317829ENST00000359902AMOTL1chr11

94587247

+CCDC88Bchr11

64119601

+
5CDS-5UTRENST00000317829ENST00000359902AMOTL1chr11

94587247

+CCDC88Bchr11

64119602

+
5CDS-5UTRENST00000433060ENST00000301897AMOTL1chr11

94587247

+CCDC88Bchr11

64118948

+
5CDS-5UTRENST00000433060ENST00000301897AMOTL1chr11

94587247

+CCDC88Bchr11

64119601

+
5CDS-5UTRENST00000433060ENST00000301897AMOTL1chr11

94587247

+CCDC88Bchr11

64119602

+
5CDS-5UTRENST00000433060ENST00000359902AMOTL1chr11

94587247

+CCDC88Bchr11

64118948

+
5CDS-5UTRENST00000433060ENST00000359902AMOTL1chr11

94587247

+CCDC88Bchr11

64119601

+
5CDS-5UTRENST00000433060ENST00000359902AMOTL1chr11

94587247

+CCDC88Bchr11

64119602

+
intron-3UTRENST00000317837ENST00000356786AMOTL1chr11

94587247

+CCDC88Bchr11

64118948

+
intron-3UTRENST00000317837ENST00000356786AMOTL1chr11

94587247

+CCDC88Bchr11

64119601

+
intron-3UTRENST00000317837ENST00000356786AMOTL1chr11

94587247

+CCDC88Bchr11

64119602

+
intron-3UTRENST00000317837ENST00000463837AMOTL1chr11

94587247

+CCDC88Bchr11

64118948

+
intron-3UTRENST00000317837ENST00000463837AMOTL1chr11

94587247

+CCDC88Bchr11

64119601

+
intron-3UTRENST00000317837ENST00000463837AMOTL1chr11

94587247

+CCDC88Bchr11

64119602

+
intron-3UTRENST00000539727ENST00000356786AMOTL1chr11

94587247

+CCDC88Bchr11

64118948

+
intron-3UTRENST00000539727ENST00000356786AMOTL1chr11

94587247

+CCDC88Bchr11

64119601

+
intron-3UTRENST00000539727ENST00000356786AMOTL1chr11

94587247

+CCDC88Bchr11

64119602

+
intron-3UTRENST00000539727ENST00000463837AMOTL1chr11

94587247

+CCDC88Bchr11

64118948

+
intron-3UTRENST00000539727ENST00000463837AMOTL1chr11

94587247

+CCDC88Bchr11

64119601

+
intron-3UTRENST00000539727ENST00000463837AMOTL1chr11

94587247

+CCDC88Bchr11

64119602

+
intron-5UTRENST00000317837ENST00000301897AMOTL1chr11

94587247

+CCDC88Bchr11

64118948

+
intron-5UTRENST00000317837ENST00000301897AMOTL1chr11

94587247

+CCDC88Bchr11

64119601

+
intron-5UTRENST00000317837ENST00000301897AMOTL1chr11

94587247

+CCDC88Bchr11

64119602

+
intron-5UTRENST00000317837ENST00000359902AMOTL1chr11

94587247

+CCDC88Bchr11

64118948

+
intron-5UTRENST00000317837ENST00000359902AMOTL1chr11

94587247

+CCDC88Bchr11

64119601

+
intron-5UTRENST00000317837ENST00000359902AMOTL1chr11

94587247

+CCDC88Bchr11

64119602

+
intron-5UTRENST00000539727ENST00000301897AMOTL1chr11

94587247

+CCDC88Bchr11

64118948

+
intron-5UTRENST00000539727ENST00000301897AMOTL1chr11

94587247

+CCDC88Bchr11

64119601

+
intron-5UTRENST00000539727ENST00000301897AMOTL1chr11

94587247

+CCDC88Bchr11

64119602

+
intron-5UTRENST00000539727ENST00000359902AMOTL1chr11

94587247

+CCDC88Bchr11

64118948

+
intron-5UTRENST00000539727ENST00000359902AMOTL1chr11

94587247

+CCDC88Bchr11

64119601

+
intron-5UTRENST00000539727ENST00000359902AMOTL1chr11

94587247

+CCDC88Bchr11

64119602

+

check buttonORFfinder result based on the fusion transcript sequence of in-frame fusion genes.
HenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrandSeq length
(transcript)		BP loci
(transcript)		Predicted start
(transcript)		Predicted stop
(transcript)		Seq length
(amino acids)

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

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Fusion Genomic Features for AMOTL1-CCDC88B


check buttonFusionAI prediction of the potential fusion gene breakpoint based on the pre-mature RNA sequence context (+/- 5kb of individual partner genes, total 20kb length sequence). FusionAI is a fusion gene breakpoint classifier based on convolutional neural network by comparing the fusion positive and negative sequence context of ~ 20K fusion gene data. From here, we can have the relative potentency of the 20K genomic sequence how individual sequnce will be likely used as the gene fusion breakpoints.
HgeneHchrHbpHstrandTgeneTchrTbpTstrand1-pp (fusion gene breakpoint)
AMOTL1chr1194587247+CCDC88Bchr1164119601+0.045380460.95461947
AMOTL1chr1194587247+CCDC88Bchr1164118947+0.0016496490.9983504
AMOTL1chr1194587247+CCDC88Bchr1164118947+0.0016496490.9983504
AMOTL1chr1194587247+CCDC88Bchr1164119601+0.045380460.95461947
AMOTL1chr1194587247+CCDC88Bchr1164118947+0.0016496490.9983504
AMOTL1chr1194587247+CCDC88Bchr1164118947+0.0016496490.9983504


check buttonDistribution of 44 human genomic features loci across 20kb length fusion breakpoint regions that are ovelapped with the top 1% feature importance score regions. More details are in help page.
genomic feature of top 1%

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Fusion Protein Features for AMOTL1-CCDC88B


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/:94587247/:64118948)
- 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
AMOTL1

Q8IY63

.
FUNCTION: Inhibits the Wnt/beta-catenin signaling pathway, probably by recruiting CTNNB1 to recycling endosomes and hence preventing its translocation to the nucleus. {ECO:0000269|PubMed:22362771}.FUNCTION: Transcriptional activator which is required for calcium-dependent dendritic growth and branching in cortical neurons. Recruits CREB-binding protein (CREBBP) to nuclear bodies. Component of the CREST-BRG1 complex, a multiprotein complex that regulates promoter activation by orchestrating a calcium-dependent release of a repressor complex and a recruitment of an activator complex. In resting neurons, transcription of the c-FOS promoter is inhibited by BRG1-dependent recruitment of a phospho-RB1-HDAC1 repressor complex. Upon calcium influx, RB1 is dephosphorylated by calcineurin, which leads to release of the repressor complex. At the same time, there is increased recruitment of CREBBP to the promoter by a CREST-dependent mechanism, which leads to transcriptional activation. The CREST-BRG1 complex also binds to the NR2B promoter, and activity-dependent induction of NR2B expression involves a release of HDAC1 and recruitment of CREBBP (By similarity). {ECO:0000250}.

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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Fusion Gene Sequence for AMOTL1-CCDC88B


check button For in-frame fusion transcripts, we provide the fusion transcript sequences and fusion amino acid sequences. To have fusion amino acid sequence, we ran ORFfinder and chose the longest ORF among the all predicted ones.

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Fusion Gene PPI Analysis for AMOTL1-CCDC88B


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


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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Related Drugs for AMOTL1-CCDC88B


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.8 2021-05-08)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status

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Related Diseases for AMOTL1-CCDC88B


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneAMOTL1C3495676Anorectal Malformations1GENOMICS_ENGLAND
TgeneC0023343Leprosy1CTD_human