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Center for Computational Systems Medicine
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FusionGeneSummary

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FusionProtFeature

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FusionGeneSequence

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FusionGenePPI

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RelatedDrugs

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RelatedDiseases

Fusion gene ID: 1620

FusionGeneSummary for AMOTL1_CCDC88B

check button Fusion gene summary
Fusion gene informationFusion gene name: AMOTL1_CCDC88B
Fusion gene ID: 1620
HgeneTgene
Gene symbol

AMOTL1

CCDC88B

Gene ID

154810

283234

Gene nameangiomotin like 1coiled-coil domain containing 88B
SynonymsJEAPBRLZ|CCDC88|HKRP3|gipie
Cytomap

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 date2018052320180523
UniProtAcc

Q8IY63

A6NC98

Ensembl transtripts involved in fusion geneENST00000317829, ENST00000317837, 
ENST00000433060, ENST00000539727, 
ENST00000463837, ENST00000356786, 
ENST00000301897, ENST00000359902, 
Fusion gene scores* DoF score5 X 5 X 5=1254 X 4 X 4=64
# samples 65
** MAII scorelog2(6/125*10)=-1.05889368905357
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(5/64*10)=-0.356143810225275
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]

Functional or gene categories assigned by FusionGDB annotation
* 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 from three resources
(ChiTars (NAR, 2018), tumorfusions (NAR, 2018), Gao et al. (Cell, 2018))
* 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.
Data typeSourceCancer typeSampleHgeneHchrHbpHstrandTgeneTchrTbpTstrand
TCGARVLGGTCGA-FG-5963-01AAMOTL1chr11

94587247

+CCDC88Bchr11

64118948

+
TCGARVLGGTCGA-FG-5963-02AAMOTL1chr11

94587247

+CCDC88Bchr11

64118948

+
* LD: Li Ding group's fusion gene list
  RV: Roel Verhaak group's fusion gene list
  ChiTaRs fusion database

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-3UTRENST00000317829ENST00000463837AMOTL1chr11

94587247

+CCDC88Bchr11

64118948

+
5CDS-3UTRENST00000317829ENST00000356786AMOTL1chr11

94587247

+CCDC88Bchr11

64118948

+
5CDS-5UTRENST00000317829ENST00000301897AMOTL1chr11

94587247

+CCDC88Bchr11

64118948

+
5CDS-5UTRENST00000317829ENST00000359902AMOTL1chr11

94587247

+CCDC88Bchr11

64118948

+
intron-3UTRENST00000317837ENST00000463837AMOTL1chr11

94587247

+CCDC88Bchr11

64118948

+
intron-3UTRENST00000317837ENST00000356786AMOTL1chr11

94587247

+CCDC88Bchr11

64118948

+
intron-5UTRENST00000317837ENST00000301897AMOTL1chr11

94587247

+CCDC88Bchr11

64118948

+
intron-5UTRENST00000317837ENST00000359902AMOTL1chr11

94587247

+CCDC88Bchr11

64118948

+
5CDS-3UTRENST00000433060ENST00000463837AMOTL1chr11

94587247

+CCDC88Bchr11

64118948

+
5CDS-3UTRENST00000433060ENST00000356786AMOTL1chr11

94587247

+CCDC88Bchr11

64118948

+
5CDS-5UTRENST00000433060ENST00000301897AMOTL1chr11

94587247

+CCDC88Bchr11

64118948

+
5CDS-5UTRENST00000433060ENST00000359902AMOTL1chr11

94587247

+CCDC88Bchr11

64118948

+
intron-3UTRENST00000539727ENST00000463837AMOTL1chr11

94587247

+CCDC88Bchr11

64118948

+
intron-3UTRENST00000539727ENST00000356786AMOTL1chr11

94587247

+CCDC88Bchr11

64118948

+
intron-5UTRENST00000539727ENST00000301897AMOTL1chr11

94587247

+CCDC88Bchr11

64118948

+
intron-5UTRENST00000539727ENST00000359902AMOTL1chr11

94587247

+CCDC88Bchr11

64118948

+

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FusionProtFeatures for AMOTL1_CCDC88B


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
AMOTL1

Q8IY63

CCDC88B

A6NC98

Inhibits the Wnt/beta-catenin signaling pathway,probably by recruiting CTNNB1 to recycling endosomes and hencepreventing its translocation to the nucleus.{ECO:0000269|PubMed:22362771}. Acts as a positive regulator of T-cell maturation andinflammatory function. Required for several functions of T-cells,in both the CD4(+) and the CD8(+) compartments and this includesexpression of cell surface markers of activation, proliferation,and cytokine production in response to specific or non-specificstimulation (By similarity). Enhances NK cell cytotoxicity bypositively regulating polarization of microtubule-organizingcenter (MTOC) to cytotoxic synapse, lytic granule transport alongmicrotubules, and dynein-mediated clustering to MTOC(PubMed:25762780). Interacts with HSPA5 and stabilizes theinteraction between HSPA5 and ERN1, leading to suppression ofERN1-induced JNK activation and endoplasmic reticulum stress-induced apoptosis (PubMed:21289099).{ECO:0000250|UniProtKB:Q4QRL3, ECO:0000269|PubMed:21289099,ECO:0000269|PubMed:25762780}.

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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FusionGeneSequence for AMOTL1_CCDC88B


check button For in-frame fusion transcripts, we provide the fusion transcript sequences and fusion amino acid sequences.
(nt: nucleotides, aa: amino acids)

* Fusion amino acid sequences.

* Fusion transcript sequences (only coding sequence (CDS) region).

* Fusion transcript sequences (Full-length transcript).

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FusionGenePPI 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
AMOTL1AMOT, NEDD4L, LATS1, LATS2, YAP1, HECW2, NEDD4, WWOX, SHMT2, MOV10, NXF1, SUZ12, FHL3, MAGEA4, WWP2, TEAD4, RAB3IL1, WWTR1, RNF166, NF2, MPP5, CAPZA2, COG6, ALOX5, IFFO1, COBLL1, CDADC1, SCML1, HMBOX1, DDHD1, TLK2, UHRF1BP1L, WWC1, USP9XCCDC88BPLEKHA5, SRPK2, CDC73


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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RelatedDrugs for AMOTL1_CCDC88B


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.0 2018-04-02)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status

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RelatedDiseases for AMOTL1_CCDC88B


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
TgeneCCDC88BC0023343Leprosy1CTD_human