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Center for Computational Systems Medicine
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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:TMEM97-IFT20 (FusionGDB2 ID:92285)

Fusion Gene Summary for TMEM97-IFT20

check button Fusion gene summary
Fusion gene informationFusion gene name: TMEM97-IFT20
Fusion gene ID: 92285
HgeneTgene
Gene symbol

TMEM97

IFT20

Gene ID

27346

90410

Gene nametransmembrane protein 97intraflagellar transport 20
SynonymsMAC30-
Cytomap

17q11.2

17q11.2

Type of geneprotein-codingprotein-coding
Descriptionsigma intracellular receptor 2meningioma-associated protein 30sigma-2 receptorsigma2 receptorintraflagellar transport protein 20 homologintraflagellar transport 20 homologintraflagellar transport protein IFT20
Modification date2020031320200327
UniProtAcc.

Q8IY31

Ensembl transtripts involved in fusion geneENST00000226230, ENST00000583381, 
ENST00000582113, ENST00000336687, 
ENST00000357896, ENST00000395418, 
ENST00000578122, ENST00000578985, 
ENST00000579419, ENST00000585089, 
ENST00000585313, 
Fusion gene scores* DoF score4 X 3 X 3=362 X 2 X 3=12
# samples 54
** MAII scorelog2(5/36*10)=0.473931188332412
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0		log2(4/12*10)=1.73696559416621
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
Context

PubMed: TMEM97 [Title/Abstract] AND IFT20 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointTMEM97(26646391)-IFT20(26657554), # samples:2
Anticipated loss of major functional domain due to fusion event.TMEM97-IFT20 seems lost the major protein functional domain in Hgene partner, which is a IUPHAR drug target due to the frame-shifted ORF.
TMEM97-IFT20 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
HgeneTMEM97

GO:0042632

cholesterol homeostasis

19583955


check buttonFusion gene breakpoints across TMEM97 (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 IFT20 (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
ChimerDB4BRCATCGA-E2-A14Y-01ATMEM97chr17

26646391

+IFT20chr17

26657554

-
ChimerDB4BRCATCGA-E2-A14YTMEM97chr17

26646391

+IFT20chr17

26657554

-
ChiTaRS5.0N/ABU607589TMEM97chr17

26655514

+IFT20chr17

26657554

-


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Fusion Gene ORF analysis for TMEM97-IFT20

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
3UTR-3CDSENST00000226230ENST00000357896TMEM97chr17

26655514

+IFT20chr17

26657554

-
3UTR-3CDSENST00000226230ENST00000395418TMEM97chr17

26655514

+IFT20chr17

26657554

-
3UTR-3CDSENST00000226230ENST00000578122TMEM97chr17

26655514

+IFT20chr17

26657554

-
3UTR-3CDSENST00000226230ENST00000578985TMEM97chr17

26655514

+IFT20chr17

26657554

-
3UTR-3CDSENST00000226230ENST00000579419TMEM97chr17

26655514

+IFT20chr17

26657554

-
3UTR-3CDSENST00000226230ENST00000585089TMEM97chr17

26655514

+IFT20chr17

26657554

-
3UTR-3CDSENST00000226230ENST00000585313TMEM97chr17

26655514

+IFT20chr17

26657554

-
5UTR-3CDSENST00000583381ENST00000357896TMEM97chr17

26646391

+IFT20chr17

26657554

-
5UTR-3CDSENST00000583381ENST00000395418TMEM97chr17

26646391

+IFT20chr17

26657554

-
5UTR-3CDSENST00000583381ENST00000578122TMEM97chr17

26646391

+IFT20chr17

26657554

-
5UTR-3CDSENST00000583381ENST00000578985TMEM97chr17

26646391

+IFT20chr17

26657554

-
5UTR-3CDSENST00000583381ENST00000579419TMEM97chr17

26646391

+IFT20chr17

26657554

-
5UTR-3CDSENST00000583381ENST00000585089TMEM97chr17

26646391

+IFT20chr17

26657554

-
5UTR-3CDSENST00000583381ENST00000585313TMEM97chr17

26646391

+IFT20chr17

26657554

-
Frame-shiftENST00000226230ENST00000357896TMEM97chr17

26646391

+IFT20chr17

26657554

-
Frame-shiftENST00000226230ENST00000395418TMEM97chr17

26646391

+IFT20chr17

26657554

-
Frame-shiftENST00000226230ENST00000578122TMEM97chr17

26646391

+IFT20chr17

26657554

-
Frame-shiftENST00000226230ENST00000578985TMEM97chr17

26646391

+IFT20chr17

26657554

-
Frame-shiftENST00000226230ENST00000579419TMEM97chr17

26646391

+IFT20chr17

26657554

-
Frame-shiftENST00000226230ENST00000585089TMEM97chr17

26646391

+IFT20chr17

26657554

-
Frame-shiftENST00000226230ENST00000585313TMEM97chr17

26646391

+IFT20chr17

26657554

-
Frame-shiftENST00000582113ENST00000357896TMEM97chr17

26646391

+IFT20chr17

26657554

-
Frame-shiftENST00000582113ENST00000395418TMEM97chr17

26646391

+IFT20chr17

26657554

-
Frame-shiftENST00000582113ENST00000578122TMEM97chr17

26646391

+IFT20chr17

26657554

-
Frame-shiftENST00000582113ENST00000578985TMEM97chr17

26646391

+IFT20chr17

26657554

-
Frame-shiftENST00000582113ENST00000579419TMEM97chr17

26646391

+IFT20chr17

26657554

-
Frame-shiftENST00000582113ENST00000585089TMEM97chr17

26646391

+IFT20chr17

26657554

-
Frame-shiftENST00000582113ENST00000585313TMEM97chr17

26646391

+IFT20chr17

26657554

-
intron-3CDSENST00000336687ENST00000357896TMEM97chr17

26646391

+IFT20chr17

26657554

-
intron-3CDSENST00000336687ENST00000357896TMEM97chr17

26655514

+IFT20chr17

26657554

-
intron-3CDSENST00000336687ENST00000395418TMEM97chr17

26646391

+IFT20chr17

26657554

-
intron-3CDSENST00000336687ENST00000395418TMEM97chr17

26655514

+IFT20chr17

26657554

-
intron-3CDSENST00000336687ENST00000578122TMEM97chr17

26646391

+IFT20chr17

26657554

-
intron-3CDSENST00000336687ENST00000578122TMEM97chr17

26655514

+IFT20chr17

26657554

-
intron-3CDSENST00000336687ENST00000578985TMEM97chr17

26646391

+IFT20chr17

26657554

-
intron-3CDSENST00000336687ENST00000578985TMEM97chr17

26655514

+IFT20chr17

26657554

-
intron-3CDSENST00000336687ENST00000579419TMEM97chr17

26646391

+IFT20chr17

26657554

-
intron-3CDSENST00000336687ENST00000579419TMEM97chr17

26655514

+IFT20chr17

26657554

-
intron-3CDSENST00000336687ENST00000585089TMEM97chr17

26646391

+IFT20chr17

26657554

-
intron-3CDSENST00000336687ENST00000585089TMEM97chr17

26655514

+IFT20chr17

26657554

-
intron-3CDSENST00000336687ENST00000585313TMEM97chr17

26646391

+IFT20chr17

26657554

-
intron-3CDSENST00000336687ENST00000585313TMEM97chr17

26655514

+IFT20chr17

26657554

-
intron-3CDSENST00000582113ENST00000357896TMEM97chr17

26655514

+IFT20chr17

26657554

-
intron-3CDSENST00000582113ENST00000395418TMEM97chr17

26655514

+IFT20chr17

26657554

-
intron-3CDSENST00000582113ENST00000578122TMEM97chr17

26655514

+IFT20chr17

26657554

-
intron-3CDSENST00000582113ENST00000578985TMEM97chr17

26655514

+IFT20chr17

26657554

-
intron-3CDSENST00000582113ENST00000579419TMEM97chr17

26655514

+IFT20chr17

26657554

-
intron-3CDSENST00000582113ENST00000585089TMEM97chr17

26655514

+IFT20chr17

26657554

-
intron-3CDSENST00000582113ENST00000585313TMEM97chr17

26655514

+IFT20chr17

26657554

-
intron-3CDSENST00000583381ENST00000357896TMEM97chr17

26655514

+IFT20chr17

26657554

-
intron-3CDSENST00000583381ENST00000395418TMEM97chr17

26655514

+IFT20chr17

26657554

-
intron-3CDSENST00000583381ENST00000578122TMEM97chr17

26655514

+IFT20chr17

26657554

-
intron-3CDSENST00000583381ENST00000578985TMEM97chr17

26655514

+IFT20chr17

26657554

-
intron-3CDSENST00000583381ENST00000579419TMEM97chr17

26655514

+IFT20chr17

26657554

-
intron-3CDSENST00000583381ENST00000585089TMEM97chr17

26655514

+IFT20chr17

26657554

-
intron-3CDSENST00000583381ENST00000585313TMEM97chr17

26655514

+IFT20chr17

26657554

-

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 TMEM97-IFT20


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.

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.

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Fusion Protein Features for TMEM97-IFT20


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/:26646391/:26657554)
- 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
.IFT20

Q8IY31

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: Part of intraflagellar transport (IFT) particles involved in ciliary process assembly. May play a role in the trafficking of ciliary membrane proteins from the Golgi complex to the cilium (PubMed:16775004). Regulates the platelet-derived growth factor receptor-alpha (PDGFRA) signaling pathway. Required for protein stability of E3 ubiquitin ligases CBL and CBLB that mediate ubiquitination and internalization of PDGFRA for proper feedback inhibition of PDGFRA signaling (PubMed:29237719). Essential for male fertility. Plays an important role in spermatogenesis, particularly spermiogenesis, when germ cells form flagella. May play a role in the transport of flagellar proteins ODF2 and SPAG16 to build sperm flagella and in the removal of redundant sperm cytoplasm (By similarity). Also involved in autophagy since it is required for trafficking of ATG16L and the expansion of the autophagic compartment (By similarity). {ECO:0000250|UniProtKB:Q61025, ECO:0000269|PubMed:16775004, ECO:0000269|PubMed:29237719}.

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 TMEM97-IFT20


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 TMEM97-IFT20


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 TMEM97-IFT20


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 TMEM97-IFT20


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