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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:C12orf76-IFT81 (FusionGDB2 ID:10896)

Fusion Gene Summary for C12orf76-IFT81

check button Fusion gene summary
Fusion gene informationFusion gene name: C12orf76-IFT81
Fusion gene ID: 10896
HgeneTgene
Gene symbol

C12orf76

IFT81

Gene ID

400073

28981

Gene namechromosome 12 open reading frame 76intraflagellar transport 81
Synonyms-CDV-1|CDV-1R|CDV1|CDV1R|DV1|SRTD19
Cytomap

12q24.11

12q24.11

Type of geneprotein-codingprotein-coding
Descriptionuncharacterized protein C12orf76intraflagellar transport protein 81 homologcarnitine deficiency-associated gene expressed in ventricle 1carnitine deficiency-associated protein expressed in ventricle 1
Modification date2020032020200313
UniProtAcc.

Q8WYA0

Ensembl transtripts involved in fusion geneENST00000548191, ENST00000548936, 
ENST00000309050, ENST00000546627, 
ENST00000546651, ENST00000547573, 
ENST00000549724, ENST00000551185, 
ENST00000361948, ENST00000549009, 
ENST00000242591, ENST00000552912, 
Fusion gene scores* DoF score5 X 3 X 3=456 X 8 X 8=384
# samples 512
** MAII scorelog2(5/45*10)=0.15200309344505
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0		log2(12/384*10)=-1.67807190511264
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: C12orf76 [Title/Abstract] AND IFT81 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointC12orf76(110511227)-IFT81(110618227), # samples:3
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 buttonFusion gene breakpoints across C12orf76 (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 IFT81 (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
ChimerDB4SKCMTCGA-ER-A19W-06AC12orf76chr12

110511227

-IFT81chr12

110618227

+


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Fusion Gene ORF analysis for C12orf76-IFT81

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-intronENST00000548191ENST00000361948C12orf76chr12

110511227

-IFT81chr12

110618227

+
5CDS-intronENST00000548191ENST00000549009C12orf76chr12

110511227

-IFT81chr12

110618227

+
5UTR-3CDSENST00000548936ENST00000242591C12orf76chr12

110511227

-IFT81chr12

110618227

+
5UTR-3CDSENST00000548936ENST00000552912C12orf76chr12

110511227

-IFT81chr12

110618227

+
5UTR-intronENST00000548936ENST00000361948C12orf76chr12

110511227

-IFT81chr12

110618227

+
5UTR-intronENST00000548936ENST00000549009C12orf76chr12

110511227

-IFT81chr12

110618227

+
In-frameENST00000548191ENST00000242591C12orf76chr12

110511227

-IFT81chr12

110618227

+
In-frameENST00000548191ENST00000552912C12orf76chr12

110511227

-IFT81chr12

110618227

+
intron-3CDSENST00000309050ENST00000242591C12orf76chr12

110511227

-IFT81chr12

110618227

+
intron-3CDSENST00000309050ENST00000552912C12orf76chr12

110511227

-IFT81chr12

110618227

+
intron-3CDSENST00000546627ENST00000242591C12orf76chr12

110511227

-IFT81chr12

110618227

+
intron-3CDSENST00000546627ENST00000552912C12orf76chr12

110511227

-IFT81chr12

110618227

+
intron-3CDSENST00000546651ENST00000242591C12orf76chr12

110511227

-IFT81chr12

110618227

+
intron-3CDSENST00000546651ENST00000552912C12orf76chr12

110511227

-IFT81chr12

110618227

+
intron-3CDSENST00000547573ENST00000242591C12orf76chr12

110511227

-IFT81chr12

110618227

+
intron-3CDSENST00000547573ENST00000552912C12orf76chr12

110511227

-IFT81chr12

110618227

+
intron-3CDSENST00000549724ENST00000242591C12orf76chr12

110511227

-IFT81chr12

110618227

+
intron-3CDSENST00000549724ENST00000552912C12orf76chr12

110511227

-IFT81chr12

110618227

+
intron-3CDSENST00000551185ENST00000242591C12orf76chr12

110511227

-IFT81chr12

110618227

+
intron-3CDSENST00000551185ENST00000552912C12orf76chr12

110511227

-IFT81chr12

110618227

+
intron-intronENST00000309050ENST00000361948C12orf76chr12

110511227

-IFT81chr12

110618227

+
intron-intronENST00000309050ENST00000549009C12orf76chr12

110511227

-IFT81chr12

110618227

+
intron-intronENST00000546627ENST00000361948C12orf76chr12

110511227

-IFT81chr12

110618227

+
intron-intronENST00000546627ENST00000549009C12orf76chr12

110511227

-IFT81chr12

110618227

+
intron-intronENST00000546651ENST00000361948C12orf76chr12

110511227

-IFT81chr12

110618227

+
intron-intronENST00000546651ENST00000549009C12orf76chr12

110511227

-IFT81chr12

110618227

+
intron-intronENST00000547573ENST00000361948C12orf76chr12

110511227

-IFT81chr12

110618227

+
intron-intronENST00000547573ENST00000549009C12orf76chr12

110511227

-IFT81chr12

110618227

+
intron-intronENST00000549724ENST00000361948C12orf76chr12

110511227

-IFT81chr12

110618227

+
intron-intronENST00000549724ENST00000549009C12orf76chr12

110511227

-IFT81chr12

110618227

+
intron-intronENST00000551185ENST00000361948C12orf76chr12

110511227

-IFT81chr12

110618227

+
intron-intronENST00000551185ENST00000549009C12orf76chr12

110511227

-IFT81chr12

110618227

+

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)
ENST00000548191C12orf76chr12110511227-ENST00000552912IFT81chr12110618227+16572653581107249
ENST00000548191C12orf76chr12110511227-ENST00000242591IFT81chr12110618227+16792653581107249

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
ENST00000548191ENST00000552912C12orf76chr12110511227-IFT81chr12110618227+0.0003472970.99965274
ENST00000548191ENST00000242591C12orf76chr12110511227-IFT81chr12110618227+0.0003238940.9996761

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Fusion Genomic Features for C12orf76-IFT81


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)
C12orf76chr12110511226-IFT81chr12110618226+0.0001037750.99989617
C12orf76chr12110511226-IFT81chr12110618226+0.0001037750.99989617

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.
genomic feature of top 1%

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Fusion Protein Features for C12orf76-IFT81


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/chr12:110511227/chr12:110618227)
- 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
.IFT81

Q8WYA0

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: Component of the intraflagellar transport (IFT) complex B: together with IFT74, forms a tubulin-binding module that specifically mediates transport of tubulin within the cilium. Binds tubulin via its CH (calponin-homology)-like region (PubMed:23990561). Required for ciliogenesis (PubMed:27666822, PubMed:23990561). Required for proper regulation of SHH signaling (PubMed:27666822). {ECO:0000269|PubMed:23990561, ECO:0000269|PubMed:27666822}.

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
TgeneIFT81chr12:110511227chr12:110618227ENST000002425911019416_456396677.0Coiled coilOntology_term=ECO:0000255
TgeneIFT81chr12:110511227chr12:110618227ENST000002425911019490_622396677.0Coiled coilOntology_term=ECO:0000255
TgeneIFT81chr12:110511227chr12:110618227ENST00000361948012132_2580432.0Coiled coilOntology_term=ECO:0000255
TgeneIFT81chr12:110511227chr12:110618227ENST00000361948012306_3890432.0Coiled coilOntology_term=ECO:0000255
TgeneIFT81chr12:110511227chr12:110618227ENST00000361948012416_4560432.0Coiled coilOntology_term=ECO:0000255
TgeneIFT81chr12:110511227chr12:110618227ENST00000361948012490_6220432.0Coiled coilOntology_term=ECO:0000255
TgeneIFT81chr12:110511227chr12:110618227ENST000005529121019416_456396677.0Coiled coilOntology_term=ECO:0000255
TgeneIFT81chr12:110511227chr12:110618227ENST000005529121019490_622396677.0Coiled coilOntology_term=ECO:0000255
TgeneIFT81chr12:110511227chr12:110618227ENST000003619480122_1210432.0RegionNote=CH (calponin-homology)-like region

- In-frame and not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
TgeneIFT81chr12:110511227chr12:110618227ENST000002425911019132_258396677.0Coiled coilOntology_term=ECO:0000255
TgeneIFT81chr12:110511227chr12:110618227ENST000002425911019306_389396677.0Coiled coilOntology_term=ECO:0000255
TgeneIFT81chr12:110511227chr12:110618227ENST000005529121019132_258396677.0Coiled coilOntology_term=ECO:0000255
TgeneIFT81chr12:110511227chr12:110618227ENST000005529121019306_389396677.0Coiled coilOntology_term=ECO:0000255
TgeneIFT81chr12:110511227chr12:110618227ENST0000024259110192_121396677.0RegionNote=CH (calponin-homology)-like region
TgeneIFT81chr12:110511227chr12:110618227ENST0000055291210192_121396677.0RegionNote=CH (calponin-homology)-like region


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Fusion Gene Sequence for C12orf76-IFT81


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.
>10896_10896_1_C12orf76-IFT81_C12orf76_chr12_110511227_ENST00000548191_IFT81_chr12_110618227_ENST00000242591_length(transcript)=1679nt_BP=265nt
GTCATTGGAAGAGCTCAAAGTTAAAGGCTCCCGCTAAAAATCAGTATGTTTCATTTTGCAGTTACTGGGAGGGGGCTTGCTGTGGCCCCA
TCTGGGAGAGTTGAGCCCTGGTCCAGCCCCGCGCAGGAAGGGAGGCTGTAACCGTGCCAGCCTGCTGCAGCTGCAGTGATGTTTTCCTGT
ATGAGACAAACAAAGTCGCCCGGATCCAAAGCATCAATTATGGCACCATTAAGTTCTTCCACGTGATCGTCTTTTCCTATGTTAGTTCAA
ACGATATGTCAATAAACTTCGAAGCAAGAGTACAGTTTTCAAAAAGAAGCATCAGATAATAGCTGAACTTAAAGCTGAATTCGGTCTTTT
GCAGAGGACTGAAGAACTTCTTAAGCAACGTCATGAAAATATTCAACAACAACTGCAAACTATGGAGGAGAAAAAGGGTATATCTGGATA
TAGTTACACCCAAGAAGAGCTAGAAAGAGTATCTGCACTGAAGAGTGAAGTTGATGAAATGAAAGGACGAACATTGGATGATATGTCTGA
AATGGTGAAAAAACTGTATTCATTGGTATCTGAAAAGAAGTCAGCTCTTGCCTCAGTTATAAAAGAGCTACGACAGTTGCGTCAAAAATA
TCAAGAACTGACCCAGGAGTGTGATGAAAAGAAATCCCAGTATGATAGCTGTGCAGCAGGCCTCGAAAGCAATCGGTCCAAATTAGAACA
GGAAGTTAGAAGACTCCGTGAAGAATGTCTTCAAGAAGAAAGTAGATACCATTATACAAATTGTATGATTAAGAACCTAGAAGTTCAACT
TCGTCGTGCTACTGATGAGATGAAGGCATATATCTCTTCTGATCAACAAGAAAAAAGAAAGGCAATTAGGGAACAGTATACCAAAAATAC
TGCTGAACAAGAAAACCTTGGAAAGAAACTTCGGGAAAAACAAAAAGTTATACGAGAAAGTCATGGTCCAAATATGAAACAAGCAAAAAT
GTGGCGTGATTTGGAACAATTAATGGAATGTAAGAAACAGTGCTTTCTGAAACAACAAAGCCAAACTTCCATTGGTCAGGTAATTCAGGA
GGGTGGGGAGGACCGGCTAATACTGTGAATTCTTGTGTCATCGTTTGGGGTTTTACTTGATACCACTAGCTATAAGCCTAATCTCATAAT
GTATTTCTTTTTTGAAACTGATTTGTATAGCATTTTGTTTTCAGAAGAGCCATTCTTTATTAAGTTTTCATAGAAAATAATGTTAAGGTA
GATTTAGTTTGAATGTTTTTTCATATGAAAAAGAGGCTTTTATTCTTTTCCATAGTTTAGACATCACTGGCGTCTTCTGAGTTTTATGAG
ACAGGAAACTAAGTTTACTATCTGTAAATGTAAACATATGTCCATTAAGAAACATGTAGTTTTTTTTTAGAATGTAATAACCCAGTGGCT
TACTGTTTTTCTTAATCTCTTTTAAAAAAACTTTAGAAGAATCTTTTAGGAACTAATATCTCTTGTTCTGAAGAAACATTTATCTGACGT
TCAGCAGTTCCTACAGTTTTACTTCAGTTTATTTTTCTTCTGTAAAATGCAAGAAAATTTAATATTTTGACTAACATGTCTTTTCTGTTT

>10896_10896_1_C12orf76-IFT81_C12orf76_chr12_110511227_ENST00000548191_IFT81_chr12_110618227_ENST00000242591_length(amino acids)=249AA_BP=
MQRTEELLKQRHENIQQQLQTMEEKKGISGYSYTQEELERVSALKSEVDEMKGRTLDDMSEMVKKLYSLVSEKKSALASVIKELRQLRQK
YQELTQECDEKKSQYDSCAAGLESNRSKLEQEVRRLREECLQEESRYHYTNCMIKNLEVQLRRATDEMKAYISSDQQEKRKAIREQYTKN

--------------------------------------------------------------
>10896_10896_2_C12orf76-IFT81_C12orf76_chr12_110511227_ENST00000548191_IFT81_chr12_110618227_ENST00000552912_length(transcript)=1657nt_BP=265nt
GTCATTGGAAGAGCTCAAAGTTAAAGGCTCCCGCTAAAAATCAGTATGTTTCATTTTGCAGTTACTGGGAGGGGGCTTGCTGTGGCCCCA
TCTGGGAGAGTTGAGCCCTGGTCCAGCCCCGCGCAGGAAGGGAGGCTGTAACCGTGCCAGCCTGCTGCAGCTGCAGTGATGTTTTCCTGT
ATGAGACAAACAAAGTCGCCCGGATCCAAAGCATCAATTATGGCACCATTAAGTTCTTCCACGTGATCGTCTTTTCCTATGTTAGTTCAA
ACGATATGTCAATAAACTTCGAAGCAAGAGTACAGTTTTCAAAAAGAAGCATCAGATAATAGCTGAACTTAAAGCTGAATTCGGTCTTTT
GCAGAGGACTGAAGAACTTCTTAAGCAACGTCATGAAAATATTCAACAACAACTGCAAACTATGGAGGAGAAAAAGGGTATATCTGGATA
TAGTTACACCCAAGAAGAGCTAGAAAGAGTATCTGCACTGAAGAGTGAAGTTGATGAAATGAAAGGACGAACATTGGATGATATGTCTGA
AATGGTGAAAAAACTGTATTCATTGGTATCTGAAAAGAAGTCAGCTCTTGCCTCAGTTATAAAAGAGCTACGACAGTTGCGTCAAAAATA
TCAAGAACTGACCCAGGAGTGTGATGAAAAGAAATCCCAGTATGATAGCTGTGCAGCAGGCCTCGAAAGCAATCGGTCCAAATTAGAACA
GGAAGTTAGAAGACTCCGTGAAGAATGTCTTCAAGAAGAAAGTAGATACCATTATACAAATTGTATGATTAAGAACCTAGAAGTTCAACT
TCGTCGTGCTACTGATGAGATGAAGGCATATATCTCTTCTGATCAACAAGAAAAAAGAAAGGCAATTAGGGAACAGTATACCAAAAATAC
TGCTGAACAAGAAAACCTTGGAAAGAAACTTCGGGAAAAACAAAAAGTTATACGAGAAAGTCATGGTCCAAATATGAAACAAGCAAAAAT
GTGGCGTGATTTGGAACAATTAATGGAATGTAAGAAACAGTGCTTTCTGAAACAACAAAGCCAAACTTCCATTGGTCAGGTAATTCAGGA
GGGTGGGGAGGACCGGCTAATACTGTGAATTCTTGTGTCATCGTTTGGGGTTTTACTTGATACCACTAGCTATAAGCCTAATCTCATAAT
GTATTTCTTTTTTGAAACTGATTTGTATAGCATTTTGTTTTCAGAAGAGCCATTCTTTATTAAGTTTTCATAGAAAATAATGTTAAGGTA
GATTTAGTTTGAATGTTTTTTCATATGAAAAAGAGGCTTTTATTCTTTTCCATAGTTTAGACATCACTGGCGTCTTCTGAGTTTTATGAG
ACAGGAAACTAAGTTTACTATCTGTAAATGTAAACATATGTCCATTAAGAAACATGTAGTTTTTTTTTAGAATGTAATAACCCAGTGGCT
TACTGTTTTTCTTAATCTCTTTTAAAAAAACTTTAGAAGAATCTTTTAGGAACTAATATCTCTTGTTCTGAAGAAACATTTATCTGACGT
TCAGCAGTTCCTACAGTTTTACTTCAGTTTATTTTTCTTCTGTAAAATGCAAGAAAATTTAATATTTTGACTAACATGTCTTTTCTGTTT

>10896_10896_2_C12orf76-IFT81_C12orf76_chr12_110511227_ENST00000548191_IFT81_chr12_110618227_ENST00000552912_length(amino acids)=249AA_BP=
MQRTEELLKQRHENIQQQLQTMEEKKGISGYSYTQEELERVSALKSEVDEMKGRTLDDMSEMVKKLYSLVSEKKSALASVIKELRQLRQK
YQELTQECDEKKSQYDSCAAGLESNRSKLEQEVRRLREECLQEESRYHYTNCMIKNLEVQLRRATDEMKAYISSDQQEKRKAIREQYTKN

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

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Fusion Gene PPI Analysis for C12orf76-IFT81


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 C12orf76-IFT81


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 C12orf76-IFT81


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