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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: 22237

FusionGeneSummary for MNAT1_RASGEF1B

check button Fusion gene summary
Fusion gene informationFusion gene name: MNAT1_RASGEF1B
Fusion gene ID: 22237
HgeneTgene
Gene symbol

MNAT1

RASGEF1B

Gene ID

4331

153020

Gene nameMNAT1, CDK activating kinase assembly factorRasGEF domain family member 1B
SynonymsCAP35|MAT1|RNF66|TFB3GPIG4
Cytomap

14q23.1

4q21.21

Type of geneprotein-codingprotein-coding
DescriptionCDK-activating kinase assembly factor MAT1CDK7/cyclin-H assembly factorMNAT CDK-activating kinase assembly factor 1RING finger protein 66RING finger protein MAT1cyclin G1 interacting proteinmenage a trois 1 (CAK assembly factor)menage a trois homolras-GEF domain-containing family member 1BGPI gamma-4
Modification date2018052320180519
UniProtAcc

P51948

Q0VAM2

Ensembl transtripts involved in fusion geneENST00000555545, ENST00000261245, 
ENST00000539616, 
ENST00000509081, 
ENST00000264400, ENST00000335927, 
ENST00000436139, ENST00000514889, 
Fusion gene scores* DoF score5 X 3 X 4=606 X 4 X 5=120
# samples 56
** MAII scorelog2(5/60*10)=-0.263034405833794
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(6/120*10)=-1
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: MNAT1 [Title/Abstract] AND RASGEF1B [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
HgeneMNAT1

GO:0006357

regulation of transcription by RNA polymerase II

10801852

HgeneMNAT1

GO:0006366

transcription by RNA polymerase II

9852112

HgeneMNAT1

GO:0045944

positive regulation of transcription by RNA polymerase II

8692841


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
TCGARVPRADTCGA-KK-A6E1-01AMNAT1chr14

61201669

+RASGEF1Bchr4

82380668

-
* 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
3UTR-5UTRENST00000555545ENST00000509081MNAT1chr14

61201669

+RASGEF1Bchr4

82380668

-
3UTR-5UTRENST00000555545ENST00000264400MNAT1chr14

61201669

+RASGEF1Bchr4

82380668

-
3UTR-5UTRENST00000555545ENST00000335927MNAT1chr14

61201669

+RASGEF1Bchr4

82380668

-
3UTR-5UTRENST00000555545ENST00000436139MNAT1chr14

61201669

+RASGEF1Bchr4

82380668

-
3UTR-intronENST00000555545ENST00000514889MNAT1chr14

61201669

+RASGEF1Bchr4

82380668

-
5CDS-5UTRENST00000261245ENST00000509081MNAT1chr14

61201669

+RASGEF1Bchr4

82380668

-
5CDS-5UTRENST00000261245ENST00000264400MNAT1chr14

61201669

+RASGEF1Bchr4

82380668

-
5CDS-5UTRENST00000261245ENST00000335927MNAT1chr14

61201669

+RASGEF1Bchr4

82380668

-
5CDS-5UTRENST00000261245ENST00000436139MNAT1chr14

61201669

+RASGEF1Bchr4

82380668

-
5CDS-intronENST00000261245ENST00000514889MNAT1chr14

61201669

+RASGEF1Bchr4

82380668

-
5CDS-5UTRENST00000539616ENST00000509081MNAT1chr14

61201669

+RASGEF1Bchr4

82380668

-
5CDS-5UTRENST00000539616ENST00000264400MNAT1chr14

61201669

+RASGEF1Bchr4

82380668

-
5CDS-5UTRENST00000539616ENST00000335927MNAT1chr14

61201669

+RASGEF1Bchr4

82380668

-
5CDS-5UTRENST00000539616ENST00000436139MNAT1chr14

61201669

+RASGEF1Bchr4

82380668

-
5CDS-intronENST00000539616ENST00000514889MNAT1chr14

61201669

+RASGEF1Bchr4

82380668

-

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FusionProtFeatures for MNAT1_RASGEF1B


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
MNAT1

P51948

RASGEF1B

Q0VAM2

Stabilizes the cyclin H-CDK7 complex to form afunctional CDK-activating kinase (CAK) enzymatic complex. CAKactivates the cyclin-associated kinases CDK1, CDK2, CDK4 and CDK6by threonine phosphorylation. CAK complexed to the core-TFIIHbasal transcription factor activates RNA polymerase II by serinephosphorylation of the repetitive C-terminal domain (CTD) of itslarge subunit (POLR2A), allowing its escape from the promoter andelongation of the transcripts. Involved in cell cycle control andin RNA transcription by RNA polymerase II.{ECO:0000269|PubMed:10024882}. Guanine nucleotide exchange factor (GEF) withspecificity for RAP2A, it doesn't seems to activate other Rasfamily proteins (in vitro). {ECO:0000269|PubMed:19645719,ECO:0000269|PubMed:23894443}.

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 MNAT1_RASGEF1B


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 MNAT1_RASGEF1B


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
MNAT1CCNH, ERCC3, MTA1, ESR1, CDK7, HPS6, COPS6, RBM48, EEF1A1, LRIF1, POU5F1, POU2F2, POU2F1, MCM7, RB1, TP53, DMAP1, GTF2H2, GTF2H1, SP1, ERCC2, XBP1P1, ICK, BRCA1, GTF2H3, GTF2H4, USP2, POLR2A, SUPT5H, NKX3-1, TRIM2, TRIM9, TRIML1, MKRN3, TRIM31, TRIM34, RNF32, TRIM17, RNF7, RNF41, TRIM21, TRIM39, TRIM5, MDM4, TRIM26, NGFRAP1, RPA3, RPA2, RPA1, CDK2, SFR1, HIST1H2BG, PCIF1, GTF2H5, MAGEC2, MAGEE2, SIRT6RASGEF1BEGFR, COL1A1, GAPDHS


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 MNAT1_RASGEF1B


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 MNAT1_RASGEF1B


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
TgeneRASGEF1BC3495559Juvenile arthritis1CTD_human