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Center for Computational Systems Medicine
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FusionGeneSummary

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FusionProtFeature

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FusionGeneSequence

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FusionGenePPI

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RelatedDrugs

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RelatedDiseases

Fusion gene ID: 37387

FusionGeneSummary for TBC1D24_MAU2

check button Fusion gene summary
Fusion gene informationFusion gene name: TBC1D24_MAU2
Fusion gene ID: 37387
HgeneTgene
Gene symbol

TBC1D24

MAU2

Gene ID

57465

23383

Gene nameTBC1 domain family member 24MAU2 sister chromatid cohesion factor
SynonymsDFNA65|DFNB86|DOORS|EIEE16|FIME|TLDC6KIAA0892|MAU2L|SCC4|mau-2
Cytomap

16p13.3

19p13.11

Type of geneprotein-codingprotein-coding
DescriptionTBC1 domain family member 24TBC/LysM-associated domain containing 6skywalker homologMAU2 chromatid cohesion factor homologcohesin loading complex subunit SCC4 homologprotein MAU-2sister chromatid cohesion 4
Modification date2018051920180523
UniProtAcc

Q9ULP9

Q9Y6X3

Ensembl transtripts involved in fusion geneENST00000567020, ENST00000293970, 
ENST00000434757, 
ENST00000392313, 
ENST00000262815, ENST00000586189, 
Fusion gene scores* DoF score4 X 6 X 1=246 X 6 X 3=108
# samples 66
** MAII scorelog2(6/24*10)=1.32192809488736
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
log2(6/108*10)=-0.84799690655495
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: TBC1D24 [Title/Abstract] AND MAU2 [Title/Abstract] AND fusion [Title/Abstract]

Functional or gene categories assigned by FusionGDB annotation
* 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
TgeneMAU2

GO:0071921

cohesin loading

22628566


check button Fusion gene information from three resources
(ChiTars (NAR, 2018), tumorfusions (NAR, 2018), Gao et al. (Cell, 2018))
* 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.
Data typeSourceCancer typeSampleHgeneHchrHbpHstrandTgeneTchrTbpTstrand
ChiTaRS3.1AI824289TBC1D24chr16

2570151

-MAU2chr19

19468053

-
* LD: Li Ding group's fusion gene list
  RV: Roel Verhaak group's fusion gene list
  ChiTaRs fusion database

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
intron-3UTRENST00000567020ENST00000392313TBC1D24chr16

2570151

-MAU2chr19

19468053

-
intron-3UTRENST00000567020ENST00000262815TBC1D24chr16

2570151

-MAU2chr19

19468053

-
intron-intronENST00000567020ENST00000586189TBC1D24chr16

2570151

-MAU2chr19

19468053

-
intron-3UTRENST00000293970ENST00000392313TBC1D24chr16

2570151

-MAU2chr19

19468053

-
intron-3UTRENST00000293970ENST00000262815TBC1D24chr16

2570151

-MAU2chr19

19468053

-
intron-intronENST00000293970ENST00000586189TBC1D24chr16

2570151

-MAU2chr19

19468053

-
intron-3UTRENST00000434757ENST00000392313TBC1D24chr16

2570151

-MAU2chr19

19468053

-
intron-3UTRENST00000434757ENST00000262815TBC1D24chr16

2570151

-MAU2chr19

19468053

-
intron-intronENST00000434757ENST00000586189TBC1D24chr16

2570151

-MAU2chr19

19468053

-

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FusionProtFeatures for TBC1D24_MAU2


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
TBC1D24

Q9ULP9

MAU2

Q9Y6X3

May act as a GTPase-activating protein for Rab familyprotein(s). Involved in neuronal projections development, probablythrough a negative modulation of ARF6 function.{ECO:0000269|PubMed:20727515, ECO:0000269|PubMed:20797691}. Plays an important role in the loading of the cohesincomplex on to DNA. Forms a heterodimeric complex (also known ascohesin loading complex) with NIPBL/SCC2 which mediates theloading of the cohesin complex onto chromatin (PubMed:28167679,PubMed:22628566). Plays a role in sister chromatid cohesion andnormal progression through prometaphase (PubMed:16802858,PubMed:16682347). {ECO:0000269|PubMed:16682347,ECO:0000269|PubMed:16802858, ECO:0000269|PubMed:22628566,ECO:0000269|PubMed:28167679}.

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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FusionGeneSequence for TBC1D24_MAU2


check button For in-frame fusion transcripts, we provide the fusion transcript sequences and fusion amino acid sequences.
(nt: nucleotides, aa: amino acids)

* Fusion amino acid sequences.

* Fusion transcript sequences (only coding sequence (CDS) region).

* Fusion transcript sequences (Full-length transcript).

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FusionGenePPI for TBC1D24_MAU2


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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RelatedDrugs for TBC1D24_MAU2


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.0 2018-04-02)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status

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RelatedDiseases for TBC1D24_MAU2


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneTBC1D24C0917800Epilepsy, Myoclonic, Infantile2CTD_human;ORPHANET;UNIPROT
HgeneTBC1D24C3892048DEAFNESS, AUTOSOMAL DOMINANT 652UNIPROT
HgeneTBC1D24C0751778Myoclonic Epilepsies, Progressive1CTD_human
HgeneTBC1D24C0795934Digitorenocerebral Syndrome1ORPHANET;UNIPROT
HgeneTBC1D24C2829265DEAFNESS, AUTOSOMAL RECESSIVE 861UNIPROT
HgeneTBC1D24C3809173EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 161ORPHANET;UNIPROT