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:TMEM66-ATF7IP (FusionGDB2 ID:92226)

Fusion Gene Summary for TMEM66-ATF7IP

check button Fusion gene summary
Fusion gene informationFusion gene name: TMEM66-ATF7IP
Fusion gene ID: 92226
HgeneTgene
Gene symbol

TMEM66

ATF7IP

Gene ID

51669

55729

Gene namestore-operated calcium entry associated regulatory factoractivating transcription factor 7 interacting protein
SynonymsFOAP-7|HSPC035|TMEM66|XTP3AM|ATF-IP|MCAF|MCAF1|p621
Cytomap

8p12

12p13.1

Type of geneprotein-codingprotein-coding
Descriptionstore-operated calcium entry-associated regulatory factorHBV X-transactivated gene 3 proteinHBV XAg-transactivated protein 3SARAF long isoformSARAF short isoformSOCE-associated regulatory factortesticular secretory protein Li 59transmembrane proteiactivating transcription factor 7-interacting protein 1ATF-interacting proteinATF7-interacting proteinATFa-associated modulatorMBD1-containing chromatin-associated factor 1
Modification date2020031320200313
UniProtAcc.

Q5U623

Ensembl transtripts involved in fusion geneENST00000256255, ENST00000536273, 
ENST00000545648, ENST00000521083, 
ENST00000536444, ENST00000540793, 
ENST00000541654, ENST00000543189, 
ENST00000544627, ENST00000261168, 
Fusion gene scores* DoF score5 X 4 X 4=8010 X 11 X 6=660
# samples 514
** MAII scorelog2(5/80*10)=-0.678071905112638
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(14/660*10)=-2.23703919730085
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: TMEM66 [Title/Abstract] AND ATF7IP [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointTMEM66(29927158)-ATF7IP(14649234), # samples:1
Anticipated loss of major functional domain due to fusion event.TMEM66-ATF7IP seems lost the major protein functional domain in Tgene partner, which is a epigenetic factor due to the frame-shifted ORF.
TMEM66-ATF7IP seems lost the major protein functional domain in Tgene partner, which is a essential gene due to the frame-shifted 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
HgeneTMEM66

GO:2001256

regulation of store-operated calcium entry

22464749

TgeneATF7IP

GO:0006306

DNA methylation

12665582

TgeneATF7IP

GO:0045892

negative regulation of transcription, DNA-templated

12665582

TgeneATF7IP

GO:0045893

positive regulation of transcription, DNA-templated

12665582

TgeneATF7IP

GO:0045898

regulation of RNA polymerase II transcriptional preinitiation complex assembly

12665582


check buttonFusion gene breakpoints across TMEM66 (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 ATF7IP (3'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.
all structure

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
ChimerDB4BRCATCGA-E2-A150-01ATMEM66chr8

29927158

-ATF7IPchr12

14649234

+


Top

Fusion Gene ORF analysis for TMEM66-ATF7IP

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-intronENST00000256255ENST00000536444TMEM66chr8

29927158

-ATF7IPchr12

14649234

+
5CDS-intronENST00000256255ENST00000540793TMEM66chr8

29927158

-ATF7IPchr12

14649234

+
5CDS-intronENST00000256255ENST00000541654TMEM66chr8

29927158

-ATF7IPchr12

14649234

+
5CDS-intronENST00000256255ENST00000543189TMEM66chr8

29927158

-ATF7IPchr12

14649234

+
5CDS-intronENST00000256255ENST00000544627TMEM66chr8

29927158

-ATF7IPchr12

14649234

+
5CDS-intronENST00000536273ENST00000536444TMEM66chr8

29927158

-ATF7IPchr12

14649234

+
5CDS-intronENST00000536273ENST00000540793TMEM66chr8

29927158

-ATF7IPchr12

14649234

+
5CDS-intronENST00000536273ENST00000541654TMEM66chr8

29927158

-ATF7IPchr12

14649234

+
5CDS-intronENST00000536273ENST00000543189TMEM66chr8

29927158

-ATF7IPchr12

14649234

+
5CDS-intronENST00000536273ENST00000544627TMEM66chr8

29927158

-ATF7IPchr12

14649234

+
5CDS-intronENST00000545648ENST00000536444TMEM66chr8

29927158

-ATF7IPchr12

14649234

+
5CDS-intronENST00000545648ENST00000540793TMEM66chr8

29927158

-ATF7IPchr12

14649234

+
5CDS-intronENST00000545648ENST00000541654TMEM66chr8

29927158

-ATF7IPchr12

14649234

+
5CDS-intronENST00000545648ENST00000543189TMEM66chr8

29927158

-ATF7IPchr12

14649234

+
5CDS-intronENST00000545648ENST00000544627TMEM66chr8

29927158

-ATF7IPchr12

14649234

+
Frame-shiftENST00000536273ENST00000261168TMEM66chr8

29927158

-ATF7IPchr12

14649234

+
Frame-shiftENST00000545648ENST00000261168TMEM66chr8

29927158

-ATF7IPchr12

14649234

+
In-frameENST00000256255ENST00000261168TMEM66chr8

29927158

-ATF7IPchr12

14649234

+
intron-3CDSENST00000521083ENST00000261168TMEM66chr8

29927158

-ATF7IPchr12

14649234

+
intron-intronENST00000521083ENST00000536444TMEM66chr8

29927158

-ATF7IPchr12

14649234

+
intron-intronENST00000521083ENST00000540793TMEM66chr8

29927158

-ATF7IPchr12

14649234

+
intron-intronENST00000521083ENST00000541654TMEM66chr8

29927158

-ATF7IPchr12

14649234

+
intron-intronENST00000521083ENST00000543189TMEM66chr8

29927158

-ATF7IPchr12

14649234

+
intron-intronENST00000521083ENST00000544627TMEM66chr8

29927158

-ATF7IPchr12

14649234

+

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)
ENST00000256255TMEM66chr829927158-ENST00000261168ATF7IPchr1214649234+21119582581106282

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
ENST00000256255ENST00000261168TMEM66chr829927158-ATF7IPchr1214649234+0.0009470980.99905294

Top

Fusion Genomic Features for TMEM66-ATF7IP


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)

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.
genomic feature

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.

Top

Fusion Protein Features for TMEM66-ATF7IP


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/chr8:29927158/chr12:14649234)
- 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
.ATF7IP

Q5U623

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}.FUNCTION: Recruiter that couples transcriptional factors to general transcription apparatus and thereby modulates transcription regulation and chromatin formation. Can both act as an activator or a repressor depending on the context. Mediates MBD1-dependent transcriptional repression, probably by recruiting complexes containing SETDB1. The complex formed with MBD1 and SETDB1 represses transcription and probably couples DNA methylation and histone H3 'Lys-9' trimethylation (H3K9me3) activity (Probable). {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
HgeneTMEM66chr8:29927158chr12:14649234ENST00000256255-3631_173233340.0Topological domainLumenal
HgeneTMEM66chr8:29927158chr12:14649234ENST00000256255-36174_194233340.0TransmembraneHelical
TgeneATF7IPchr8:29927158chr12:14649234ENST00000261168015617_66501271.0Coiled coilOntology_term=ECO:0000255
TgeneATF7IPchr8:29927158chr12:14649234ENST00000540793014617_66501271.0Coiled coilOntology_term=ECO:0000255
TgeneATF7IPchr8:29927158chr12:14649234ENST00000543189013617_66501106.0Coiled coilOntology_term=ECO:0000255
TgeneATF7IPchr8:29927158chr12:14649234ENST00000261168015349_58001271.0Compositional biasNote=Glu-rich
TgeneATF7IPchr8:29927158chr12:14649234ENST00000540793014349_58001271.0Compositional biasNote=Glu-rich
TgeneATF7IPchr8:29927158chr12:14649234ENST00000543189013349_58001106.0Compositional biasNote=Glu-rich
TgeneATF7IPchr8:29927158chr12:14649234ENST000002611680151160_127001271.0DomainFibronectin type-III
TgeneATF7IPchr8:29927158chr12:14649234ENST000005407930141160_127001271.0DomainFibronectin type-III
TgeneATF7IPchr8:29927158chr12:14649234ENST000005431890131160_127001106.0DomainFibronectin type-III
TgeneATF7IPchr8:29927158chr12:14649234ENST00000261168015553_57101271.0MotifNuclear localization signal
TgeneATF7IPchr8:29927158chr12:14649234ENST00000540793014553_57101271.0MotifNuclear localization signal
TgeneATF7IPchr8:29927158chr12:14649234ENST00000543189013553_57101106.0MotifNuclear localization signal

- In-frame and not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgeneTMEM66chr8:29927158chr12:14649234ENST00000256255-36195_339233340.0Topological domainCytoplasmic
HgeneTMEM66chr8:29927158chr12:14649234ENST00000536273-25195_33961168.0Topological domainCytoplasmic
HgeneTMEM66chr8:29927158chr12:14649234ENST00000536273-2531_17361168.0Topological domainLumenal
HgeneTMEM66chr8:29927158chr12:14649234ENST00000545648-47195_33961168.0Topological domainCytoplasmic
HgeneTMEM66chr8:29927158chr12:14649234ENST00000545648-4731_17361168.0Topological domainLumenal
HgeneTMEM66chr8:29927158chr12:14649234ENST00000536273-25174_19461168.0TransmembraneHelical
HgeneTMEM66chr8:29927158chr12:14649234ENST00000545648-47174_19461168.0TransmembraneHelical


Top

Fusion Gene Sequence for TMEM66-ATF7IP


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.
>92226_92226_1_TMEM66-ATF7IP_TMEM66_chr8_29927158_ENST00000256255_ATF7IP_chr12_14649234_ENST00000261168_length(transcript)=2111nt_BP=958nt
ACACCGCCTCGCCCCGCCCCAAGCCGCGCTGTGCTCCAGGGGCGGGGGCCCACGGCGGCCACTCACTGAGCCCCACGGGCCGCAGCGGCA
GTGACGTAGGGTTGGCGCACGGATCCGTTGCGGCTGCAGCTCTGCAGTCGGGCCGTTCCTTCGCCGCCGCCAGGGGTAGCGGTGTAGCTG
CGCAGCGTCGCGCGCGCTACCGCACCCAGGTTCGGCCCGTAGGCGTCTGGCAGCCCGGCGCCATCTTCATCGAGCGCCATGGCCGCAGCC
TGCGGGCCGGGAGCGGCCGGGTACTGCTTGCTCCTCGGCTTGCATTTGTTTCTGCTGACCGCGGGCCCTGCCCTGGGCTGGAACGACCCT
GACAGAATGTTGCTGCGGGATGTAAAAGCTCTTACCCTCCACTATGACCGCTATACCACCTCCCGCAGGCTGGATCCCATCCCACAGTTG
AAATGTGTTGGAGGCACAGCTGGTTGTGATTCTTATACCCCAAAAGTCATACAGTGTCAGAACAAAGGCTGGGATGGGTATGATGTACAG
TGGGAATGTAAGACGGACTTAGATATTGCATACAAATTTGGAAAAACTGTGGTGAGCTGTGAAGGCTATGAGTCCTCTGAAGACCAGTAT
GTACTAAGAGGTTCTTGTGGCTTGGAGTATAATTTAGATTATACAGAACTTGGCCTGCAGAAACTGAAGGAGTCTGGAAAGCAGCACGGC
TTTGCCTCTTTCTCTGATTATTATTATAAGTGGTCCTCGGCGGATTCCTGTAACATGAGTGGATTGATTACCATTGTGGTACTCCTTGGG
ATCGCGTTTGTAGTCTATAAGCTGTTCCTGAGTGACGGGCAGTATTCTCCTCCACCGTACTCTGAGTATCCTCCATTTTCCCACCGTTAC
CAGAGATTCACCAACTCAGCAGGACCTCCTCCCCCAGGCTTTAAGTCTGAGTTCACAGACCTCAGCTCACAGTGCATCACCGACCACCAC
AAGTGCATACTGAGCCCCCACGCCCCGTGCACCCAGCACCCTTACCAGAAGCTCCACAACCACAGCGTCTGCCCCCAGAAGCTGCCAGCA
CATCTCTGCCTCAGAAGCCACACTTGAAGTTAGCACGCGTTCAGAGTCAAAATGGCATAGTACTGTCATGGAGTGTCCTGGAGGTGGATC
GAAGCTGTGCCACTGTTGATAGCTACCATCTCTATGCTTACCATGAGGAACCCAGTGCCACTGTGCCCTCACAATGGAAAAAGATTGGGG
AAGTCAAGGCACTTCCCTTGCCCATGGCATGTACTCTCACCCAGTTTGTATCTGGTAGCAAATACTACTTTGCAGTACGAGCCAAGGATA
TTTATGGACGTTTTGGGCCTTTCTGTGATCCTCAGTCAACAGATGTGATCTCTTCTACCCAGAGCAGTTAAACCTTGGAGCCTTTATATT
TTCCTCTTTTAAAATTTCCACCTTTTGGTCTTGTTTTTAATCTTGTGCATGATACCCCATGTAAAATCCACCTTGTGCAAGATTTCTTGG
ACAGATGTGTGTATACACTACATTTGTTTATAACCAGAAGCAAAATAAACTCAGCCCACAAAGCTAGAATCTTTTCCTGGACAGTTTAGG
CTTTGGGGTTTGGAAATGTAAATGTGTACCTTGCTTTAGTTTTGAGGCTGGGGAATATGTGTGGGTGTTTATGTGTGTTTTTCCTTATGT
AGGTGTTATTGCATTGGAGTCTCCCATTTTCATTCTCAAATTTACCTCTTAAAGTACGAAGTAAGTAGATCAAAGGATTTGAGATGTGTA
ACTGGCATGATTCTGCTTTTGAAGGATCTATAGTATCATTTTAGTTAAGTGGGTCAAACAGAATCAAAACAAAACCCAAAGAAATAAATA
AAAAACAAAATGGCTAAATAGTTTAAAATAGGTTAATTCGAACACAGGAAAGGATCTATTTGTTGTTTCTTTTGTCTGGTCTCCTGAGTT
GTTAATTAGGTGAAAAAAGATCTGCAATGGCCCCCTCCCTTTCCTAATCTGGCTTTTACATTTATTTTGTGCCTTAAAGATTAACTACAA

>92226_92226_1_TMEM66-ATF7IP_TMEM66_chr8_29927158_ENST00000256255_ATF7IP_chr12_14649234_ENST00000261168_length(amino acids)=282AA_BP=233
MAAACGPGAAGYCLLLGLHLFLLTAGPALGWNDPDRMLLRDVKALTLHYDRYTTSRRLDPIPQLKCVGGTAGCDSYTPKVIQCQNKGWDG
YDVQWECKTDLDIAYKFGKTVVSCEGYESSEDQYVLRGSCGLEYNLDYTELGLQKLKESGKQHGFASFSDYYYKWSSADSCNMSGLITIV
VLLGIAFVVYKLFLSDGQYSPPPYSEYPPFSHRYQRFTNSAGPPPPGFKSEFTDLSSQCITDHHKCILSPHAPCTQHPYQKLHNHSVCPQ

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

Top

Fusion Gene PPI Analysis for TMEM66-ATF7IP


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
TgeneATF7IPchr8:29927158chr12:14649234ENST000002611680151154_127001271.0MBD1
TgeneATF7IPchr8:29927158chr12:14649234ENST000005407930141154_127001271.0MBD1
TgeneATF7IPchr8:29927158chr12:14649234ENST000005431890131154_127001106.0MBD1
TgeneATF7IPchr8:29927158chr12:14649234ENST00000261168015562_81701271.0SETDB1
TgeneATF7IPchr8:29927158chr12:14649234ENST00000540793014562_81701271.0SETDB1
TgeneATF7IPchr8:29927158chr12:14649234ENST00000543189013562_81701106.0SETDB1
TgeneATF7IPchr8:29927158chr12:14649234ENST00000261168015965_97501271.0SUMO
TgeneATF7IPchr8:29927158chr12:14649234ENST00000540793014965_97501271.0SUMO
TgeneATF7IPchr8:29927158chr12:14649234ENST00000543189013965_97501106.0SUMO


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 TMEM66-ATF7IP


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 TMEM66-ATF7IP


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