FusionGDB Logo

Home

Download

Statistics

Examples

Help

Contact
Center for Computational Systems Medicine
leaf

Fusion Gene Summary

leaf

Fusion Gene ORF analysis

leaf

Fusion Genomic Features

leaf

Fusion Protein Features

leaf

Fusion Gene Sequence

leaf

Fusion Gene PPI analysis

leaf

Related Drugs

leaf

Related Diseases

Fusion gene:FAM126A-CCT7 (FusionGDB2 ID:28438)

Fusion Gene Summary for FAM126A-CCT7

check button Fusion gene summary
Fusion gene informationFusion gene name: FAM126A-CCT7
Fusion gene ID: 28438
HgeneTgene
Gene symbol

FAM126A

CCT7

Gene ID

84668

10574

Gene namefamily with sequence similarity 126 member Achaperonin containing TCP1 subunit 7
SynonymsDRCTNNB1A|HCC|HLD5|HYCC1CCTETA|CCTH|NIP7-1|TCP1ETA
Cytomap

7p15.3

2p13.2

Type of geneprotein-codingprotein-coding
Descriptionhyccindown regulated by Ctnnb1, adown-regulated by CTNNB1 protein AT-complex protein 1 subunit etaCCT-etaHIV-1 Nef interacting proteinTCP-1-etachaperonin containing t-complex polypeptide 1, eta subunit
Modification date2020031320200313
UniProtAcc

Q9BYI3

Q99832

Ensembl transtripts involved in fusion geneENST00000409763, ENST00000409923, 
ENST00000432176, ENST00000498833, 
ENST00000258091, ENST00000398422, 
ENST00000537131, ENST00000538797, 
ENST00000539919, ENST00000540468, 
ENST00000473786, 
Fusion gene scores* DoF score5 X 5 X 4=1007 X 9 X 3=189
# samples 59
** MAII scorelog2(5/100*10)=-1
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(9/189*10)=-1.0703893278914
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: FAM126A [Title/Abstract] AND CCT7 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointFAM126A(23053544)-CCT7(73479768), # samples:1
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
HgeneFAM126A

GO:0046854

phosphatidylinositol phosphorylation

26571211

HgeneFAM126A

GO:0072659

protein localization to plasma membrane

26571211


check buttonFusion gene breakpoints across FAM126A (5'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.

check buttonFusion gene breakpoints across CCT7 (3'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.

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-BR-7722-01AFAM126Achr7

23053544

-CCT7chr2

73479768

+


Top

Fusion Gene ORF analysis for FAM126A-CCT7

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
5UTR-3CDSENST00000409763ENST00000258091FAM126Achr7

23053544

-CCT7chr2

73479768

+
5UTR-3CDSENST00000409763ENST00000398422FAM126Achr7

23053544

-CCT7chr2

73479768

+
5UTR-3CDSENST00000409763ENST00000537131FAM126Achr7

23053544

-CCT7chr2

73479768

+
5UTR-3CDSENST00000409763ENST00000538797FAM126Achr7

23053544

-CCT7chr2

73479768

+
5UTR-3CDSENST00000409763ENST00000539919FAM126Achr7

23053544

-CCT7chr2

73479768

+
5UTR-3CDSENST00000409763ENST00000540468FAM126Achr7

23053544

-CCT7chr2

73479768

+
5UTR-3CDSENST00000409923ENST00000258091FAM126Achr7

23053544

-CCT7chr2

73479768

+
5UTR-3CDSENST00000409923ENST00000398422FAM126Achr7

23053544

-CCT7chr2

73479768

+
5UTR-3CDSENST00000409923ENST00000537131FAM126Achr7

23053544

-CCT7chr2

73479768

+
5UTR-3CDSENST00000409923ENST00000538797FAM126Achr7

23053544

-CCT7chr2

73479768

+
5UTR-3CDSENST00000409923ENST00000539919FAM126Achr7

23053544

-CCT7chr2

73479768

+
5UTR-3CDSENST00000409923ENST00000540468FAM126Achr7

23053544

-CCT7chr2

73479768

+
5UTR-3CDSENST00000432176ENST00000258091FAM126Achr7

23053544

-CCT7chr2

73479768

+
5UTR-3CDSENST00000432176ENST00000398422FAM126Achr7

23053544

-CCT7chr2

73479768

+
5UTR-3CDSENST00000432176ENST00000537131FAM126Achr7

23053544

-CCT7chr2

73479768

+
5UTR-3CDSENST00000432176ENST00000538797FAM126Achr7

23053544

-CCT7chr2

73479768

+
5UTR-3CDSENST00000432176ENST00000539919FAM126Achr7

23053544

-CCT7chr2

73479768

+
5UTR-3CDSENST00000432176ENST00000540468FAM126Achr7

23053544

-CCT7chr2

73479768

+
5UTR-intronENST00000409763ENST00000473786FAM126Achr7

23053544

-CCT7chr2

73479768

+
5UTR-intronENST00000409923ENST00000473786FAM126Achr7

23053544

-CCT7chr2

73479768

+
5UTR-intronENST00000432176ENST00000473786FAM126Achr7

23053544

-CCT7chr2

73479768

+
intron-3CDSENST00000498833ENST00000258091FAM126Achr7

23053544

-CCT7chr2

73479768

+
intron-3CDSENST00000498833ENST00000398422FAM126Achr7

23053544

-CCT7chr2

73479768

+
intron-3CDSENST00000498833ENST00000537131FAM126Achr7

23053544

-CCT7chr2

73479768

+
intron-3CDSENST00000498833ENST00000538797FAM126Achr7

23053544

-CCT7chr2

73479768

+
intron-3CDSENST00000498833ENST00000539919FAM126Achr7

23053544

-CCT7chr2

73479768

+
intron-3CDSENST00000498833ENST00000540468FAM126Achr7

23053544

-CCT7chr2

73479768

+
intron-intronENST00000498833ENST00000473786FAM126Achr7

23053544

-CCT7chr2

73479768

+

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

Top

Fusion Genomic Features for FAM126A-CCT7


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)
FAM126Achr723053543-CCT7chr273479767+3.76E-091
FAM126Achr723053543-CCT7chr273479767+3.76E-091

check buttonDistribution of 44 human genomic features loci across 20kb length fusion breakpoint regions. We integrated a total of 44 different types of human genomic feature loci information across five big categories including virus integration sites, repeats, structural variants, chromatin states, and gene expression regulation. More details are in help page.

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%

Top

Fusion Protein Features for FAM126A-CCT7


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/:23053544/:73479768)
- 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
FAM126A

Q9BYI3

CCT7

Q99832

FUNCTION: Component of a complex required to localize phosphatidylinositol 4-kinase (PI4K) to the plasma membrane (PubMed:26571211). The complex acts as a regulator of phosphatidylinositol 4-phosphate (PtdIns(4)P) synthesis (PubMed:26571211). FAM126A plays a key role in oligodendrocytes formation, a cell type with expanded plasma membrane that requires generation of PtdIns(4)P (PubMed:26571211). Its role in oligodendrocytes formation probably explains its importance in myelination of the central and peripheral nervous system (PubMed:26571211, PubMed:16951682). May also have a role in the beta-catenin/Lef signaling pathway (Probable). {ECO:0000269|PubMed:16951682, ECO:0000269|PubMed:26571211, ECO:0000305|PubMed:10910037}.FUNCTION: Component of the chaperonin-containing T-complex (TRiC), a molecular chaperone complex that assists the folding of proteins upon ATP hydrolysis (PubMed:25467444). The TRiC complex mediates the folding of WRAP53/TCAB1, thereby regulating telomere maintenance (PubMed:25467444). The TRiC complex plays a role in the folding of actin and tubulin (Probable). {ECO:0000269|PubMed:25467444, ECO:0000305}.

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


Top

Fusion Gene Sequence for FAM126A-CCT7


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.

Top

Fusion Gene PPI Analysis for FAM126A-CCT7


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


Top

Related Drugs for FAM126A-CCT7


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

Top

Related Diseases for FAM126A-CCT7


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