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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:TBC1D14-MAD1L1 (FusionGDB2 ID:88608)

Fusion Gene Summary for TBC1D14-MAD1L1

check button Fusion gene summary
Fusion gene informationFusion gene name: TBC1D14-MAD1L1
Fusion gene ID: 88608
HgeneTgene
Gene symbol

TBC1D14

MAD1L1

Gene ID

57533

8379

Gene nameTBC1 domain family member 14mitotic arrest deficient 1 like 1
Synonyms-MAD1|PIG9|TP53I9|TXBP181
Cytomap

4p16.1

7p22.3

Type of geneprotein-codingprotein-coding
DescriptionTBC1 domain family member 14mitotic spindle assembly checkpoint protein MAD1MAD1 mitotic arrest deficient like 1MAD1-like protein 1mitotic arrest deficient 1-like protein 1mitotic checkpoint MAD1 protein homologmitotic-arrest deficient 1, yeast, homolog-like 1tax-binding prote
Modification date2020031320200313
UniProtAcc.

Q9Y6D9

Ensembl transtripts involved in fusion geneENST00000448507, ENST00000409757, 
ENST00000410031, ENST00000451522, 
ENST00000446947, 		ENST00000402746, 
ENST00000399654, ENST00000406869, 
ENST00000265854, ENST00000486340, 
Fusion gene scores* DoF score8 X 5 X 9=36023 X 16 X 12=4416
# samples 1337
** MAII scorelog2(13/360*10)=-1.46948528330122
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(37/4416*10)=-3.57714299626186
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: TBC1D14 [Title/Abstract] AND MAD1L1 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointTBC1D14(6969151)-MAD1L1(1938026), # samples:1
Anticipated loss of major functional domain due to fusion event.TBC1D14-MAD1L1 seems lost the major protein functional domain in Hgene partner, which is a essential gene due to the frame-shifted ORF.
TBC1D14-MAD1L1 seems lost the major protein functional domain in Tgene partner, which is a tumor suppressor due to the frame-shifted ORF.
TBC1D14-MAD1L1 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
TgeneMAD1L1

GO:0007094

mitotic spindle assembly checkpoint

18981471

TgeneMAD1L1

GO:0090235

regulation of metaphase plate congression

20133940


check buttonFusion gene breakpoints across TBC1D14 (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 MAD1L1 (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-HU-8238-01ATBC1D14chr4

6969151

+MAD1L1chr7

1938026

-


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Fusion Gene ORF analysis for TBC1D14-MAD1L1

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
Frame-shiftENST00000448507ENST00000402746TBC1D14chr4

6969151

+MAD1L1chr7

1938026

-
Frame-shiftENST00000448507ENST00000399654TBC1D14chr4

6969151

+MAD1L1chr7

1938026

-
Frame-shiftENST00000448507ENST00000406869TBC1D14chr4

6969151

+MAD1L1chr7

1938026

-
Frame-shiftENST00000448507ENST00000265854TBC1D14chr4

6969151

+MAD1L1chr7

1938026

-
5CDS-intronENST00000448507ENST00000486340TBC1D14chr4

6969151

+MAD1L1chr7

1938026

-
Frame-shiftENST00000409757ENST00000402746TBC1D14chr4

6969151

+MAD1L1chr7

1938026

-
Frame-shiftENST00000409757ENST00000399654TBC1D14chr4

6969151

+MAD1L1chr7

1938026

-
Frame-shiftENST00000409757ENST00000406869TBC1D14chr4

6969151

+MAD1L1chr7

1938026

-
Frame-shiftENST00000409757ENST00000265854TBC1D14chr4

6969151

+MAD1L1chr7

1938026

-
5CDS-intronENST00000409757ENST00000486340TBC1D14chr4

6969151

+MAD1L1chr7

1938026

-
Frame-shiftENST00000410031ENST00000402746TBC1D14chr4

6969151

+MAD1L1chr7

1938026

-
Frame-shiftENST00000410031ENST00000399654TBC1D14chr4

6969151

+MAD1L1chr7

1938026

-
Frame-shiftENST00000410031ENST00000406869TBC1D14chr4

6969151

+MAD1L1chr7

1938026

-
Frame-shiftENST00000410031ENST00000265854TBC1D14chr4

6969151

+MAD1L1chr7

1938026

-
5CDS-intronENST00000410031ENST00000486340TBC1D14chr4

6969151

+MAD1L1chr7

1938026

-
intron-3CDSENST00000451522ENST00000402746TBC1D14chr4

6969151

+MAD1L1chr7

1938026

-
intron-3CDSENST00000451522ENST00000399654TBC1D14chr4

6969151

+MAD1L1chr7

1938026

-
intron-3CDSENST00000451522ENST00000406869TBC1D14chr4

6969151

+MAD1L1chr7

1938026

-
intron-3CDSENST00000451522ENST00000265854TBC1D14chr4

6969151

+MAD1L1chr7

1938026

-
intron-intronENST00000451522ENST00000486340TBC1D14chr4

6969151

+MAD1L1chr7

1938026

-
intron-3CDSENST00000446947ENST00000402746TBC1D14chr4

6969151

+MAD1L1chr7

1938026

-
intron-3CDSENST00000446947ENST00000399654TBC1D14chr4

6969151

+MAD1L1chr7

1938026

-
intron-3CDSENST00000446947ENST00000406869TBC1D14chr4

6969151

+MAD1L1chr7

1938026

-
intron-3CDSENST00000446947ENST00000265854TBC1D14chr4

6969151

+MAD1L1chr7

1938026

-
intron-intronENST00000446947ENST00000486340TBC1D14chr4

6969151

+MAD1L1chr7

1938026

-

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 TBC1D14-MAD1L1


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 TBC1D14-MAD1L1


check button Go to

FGviewer for the breakpoints of :-:

.
- FGviewer provides the online visualization of the retention search of the protein functional features across DNA, RNA, protein, and pathological levels.
FGviewer

check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
.MAD1L1

Q9Y6D9

FUNCTION: Might normally function as a transcriptional repressor. EWS-fusion-proteins (EFPS) may play a role in the tumorigenic process. They may disturb gene expression by mimicking, or interfering with the normal function of CTD-POLII within the transcription initiation complex. They may also contribute to an aberrant activation of the fusion protein target genes.FUNCTION: Component of the spindle-assembly checkpoint that prevents the onset of anaphase until all chromosomes are properly aligned at the metaphase plate (PubMed:10049595, PubMed:20133940, PubMed:29162720). Forms a heterotetrameric complex with the closed conformation form of MAD2L1 (C-MAD2) at unattached kinetochores during prometaphase, recruits an open conformation of MAD2L1 (O-MAD2) and promotes the conversion of O-MAD2 to C-MAD2, which ensures mitotic checkpoint signaling (PubMed:29162720). {ECO:0000269|PubMed:10049595, ECO:0000269|PubMed:20133940, ECO:0000269|PubMed:29162720}.

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 TBC1D14-MAD1L1


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 TBC1D14-MAD1L1


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 TBC1D14-MAD1L1


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 TBC1D14-MAD1L1


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
TgeneMAD1L1C0036341Schizophrenia1PSYGENET
TgeneMAD1L1C0087031Juvenile-Onset Still Disease1CTD_human
TgeneMAD1L1C1336708Testicular Germ Cell Tumor1CTD_human
TgeneMAD1L1C2931456Prostate cancer, familial1CTD_human
TgeneMAD1L1C3495559Juvenile arthritis1CTD_human
TgeneMAD1L1C3714758Juvenile psoriatic arthritis1CTD_human
TgeneMAD1L1C4552091Polyarthritis, Juvenile, Rheumatoid Factor Negative1CTD_human
TgeneMAD1L1C4704862Polyarthritis, Juvenile, Rheumatoid Factor Positive1CTD_human
TgeneMAD1L1C4722327PROSTATE CANCER, HEREDITARY, 11CTD_human