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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: 22763

FusionGeneSummary for MTHFD1_UVRAG

check button Fusion gene summary
Fusion gene informationFusion gene name: MTHFD1_UVRAG
Fusion gene ID: 22763
HgeneTgene
Gene symbol

MTHFD1

UVRAG

Gene ID

4522

7405

Gene namemethylenetetrahydrofolate dehydrogenase, cyclohydrolase and formyltetrahydrofolate synthetase 1UV radiation resistance associated
SynonymsCIMAH|MTHFC|MTHFDDHTX|VPS38|p63
Cytomap

14q23.3

11q13.5

Type of geneprotein-codingprotein-coding
DescriptionC-1-tetrahydrofolate synthase, cytoplasmic5,10-methylenetetrahydrofolate dehydrogenase, 5,10-methylenetetrahydrofolate cyclohydrolase, 10-formyltetrahydrofolate synthetaseC1-THF synthasecytoplasmic C-1-tetrahydrofolate synthasemethylenetetrahydrofolatUV radiation resistance-associated gene proteinbeclin 1 binding proteindisrupted in heterotaxy
Modification date2018052320180523
UniProtAcc

P11586

Q9P2Y5

Ensembl transtripts involved in fusion geneENST00000545908, ENST00000216605, 
ENST00000556284, 		ENST00000356136, 
ENST00000528420, ENST00000533454, 
ENST00000531818, ENST00000532130, 
ENST00000539288, ENST00000525872, 
ENST00000538870, 
Fusion gene scores* DoF score3 X 3 X 2=1824 X 13 X 11=3432
# samples 325
** MAII scorelog2(3/18*10)=0.736965594166206
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0		log2(25/3432*10)=-3.77904955283746
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: MTHFD1 [Title/Abstract] AND UVRAG [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
TgeneUVRAG

GO:0071900

regulation of protein serine/threonine kinase activity

22542840

TgeneUVRAG

GO:0097680

double-strand break repair via classical nonhomologous end joining

22542840


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
ChiTaRS3.1BE707197MTHFD1chr14

64905879

+UVRAGchr11

75853215

-
* 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
5CDS-3UTRENST00000545908ENST00000356136MTHFD1chr14

64905879

+UVRAGchr11

75853215

-
5CDS-intronENST00000545908ENST00000528420MTHFD1chr14

64905879

+UVRAGchr11

75853215

-
5CDS-intronENST00000545908ENST00000533454MTHFD1chr14

64905879

+UVRAGchr11

75853215

-
5CDS-3UTRENST00000545908ENST00000531818MTHFD1chr14

64905879

+UVRAGchr11

75853215

-
5CDS-intronENST00000545908ENST00000532130MTHFD1chr14

64905879

+UVRAGchr11

75853215

-
5CDS-intronENST00000545908ENST00000539288MTHFD1chr14

64905879

+UVRAGchr11

75853215

-
5CDS-intronENST00000545908ENST00000525872MTHFD1chr14

64905879

+UVRAGchr11

75853215

-
5CDS-intronENST00000545908ENST00000538870MTHFD1chr14

64905879

+UVRAGchr11

75853215

-
5CDS-3UTRENST00000216605ENST00000356136MTHFD1chr14

64905879

+UVRAGchr11

75853215

-
5CDS-intronENST00000216605ENST00000528420MTHFD1chr14

64905879

+UVRAGchr11

75853215

-
5CDS-intronENST00000216605ENST00000533454MTHFD1chr14

64905879

+UVRAGchr11

75853215

-
5CDS-3UTRENST00000216605ENST00000531818MTHFD1chr14

64905879

+UVRAGchr11

75853215

-
5CDS-intronENST00000216605ENST00000532130MTHFD1chr14

64905879

+UVRAGchr11

75853215

-
5CDS-intronENST00000216605ENST00000539288MTHFD1chr14

64905879

+UVRAGchr11

75853215

-
5CDS-intronENST00000216605ENST00000525872MTHFD1chr14

64905879

+UVRAGchr11

75853215

-
5CDS-intronENST00000216605ENST00000538870MTHFD1chr14

64905879

+UVRAGchr11

75853215

-
intron-3UTRENST00000556284ENST00000356136MTHFD1chr14

64905879

+UVRAGchr11

75853215

-
intron-intronENST00000556284ENST00000528420MTHFD1chr14

64905879

+UVRAGchr11

75853215

-
intron-intronENST00000556284ENST00000533454MTHFD1chr14

64905879

+UVRAGchr11

75853215

-
intron-3UTRENST00000556284ENST00000531818MTHFD1chr14

64905879

+UVRAGchr11

75853215

-
intron-intronENST00000556284ENST00000532130MTHFD1chr14

64905879

+UVRAGchr11

75853215

-
intron-intronENST00000556284ENST00000539288MTHFD1chr14

64905879

+UVRAGchr11

75853215

-
intron-intronENST00000556284ENST00000525872MTHFD1chr14

64905879

+UVRAGchr11

75853215

-
intron-intronENST00000556284ENST00000538870MTHFD1chr14

64905879

+UVRAGchr11

75853215

-

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FusionProtFeatures for MTHFD1_UVRAG


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
MTHFD1

P11586

UVRAG

Q9P2Y5

Versatile protein that is involved in regulation ofdifferent cellular pathways implicated in membrane trafficking.Involved in regulation of the COPI-dependent retrograde transportfrom Golgi and the endoplasmic reticulum by associating with theNRZ complex; the function is dependent on its binding tophosphatidylinositol 3-phosphate (PtdIns(3)P) (PubMed:24056303).During autophagy acts as regulatory subunit of the alternativePI3K complex II (PI3KC3-C2) that mediates formation ofphosphatidylinositol 3-phosphate and is believed to be involved inmaturation of autophagosomes and endocytosis. Activates lipidkinase activity of PIK3C3. Involved in the regulation ofdegradative endocytic trafficking and cytokinesis, and inregulation of ATG9A transport from the Golgi to the autophagosome;the functions seems to implicate its association with PI3KC3-C2(PubMed:16799551, PubMed:20643123, PubMed:24056303). Involved inmaturation of autophagosomes and degradative endocytic traffickingindependently of BECN1 but depending on its association with aclass C Vps complex (possibly the HOPS complex); the associationis also proposed to promote autophagosome recruitment andactivation of Rab7 and endosome-endosome fusion events(PubMed:18552835). Enhances class C Vps complex (possibly HOPScomplex) association with a SNARE complex and promotes fusogenicSNARE complex formation during late endocytic membrane fusion(PubMed:24550300). In case of negative-strand RNA virus infectionis required for efficient virus entry, promotes endocytictransport of virions and is implicated in a VAMP8-specificfusogenic SNARE complex assembly (PubMed:24550300).{ECO:0000269|PubMed:18552835, ECO:0000269|PubMed:20643123,ECO:0000269|PubMed:24056303, ECO:0000305}. Involved in maintaining chromosomal stability. PromotesDNA double-strand break (DSB) repair by association with DNA-dependent protein kinase complex DNA-PK and activating it in non-homologous end joining (NHEJ) (PubMed:22542840). Required forcentrosome stability and proper chromosome segregation(PubMed:22542840). {ECO:0000269|PubMed:22542840}.

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 MTHFD1_UVRAG


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 MTHFD1_UVRAG


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 MTHFD1_UVRAG


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 MTHFD1_UVRAG


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneMTHFD1C0027794Neural Tube Defects2CTD_human
HgeneMTHFD1C1866558Neural tube defect, folate-sensitive2CTD_human;UNIPROT
HgeneMTHFD1C0000832Abruptio Placentae1CTD_human
HgeneMTHFD1C0005586Bipolar Disorder1PSYGENET
HgeneMTHFD1C0036341Schizophrenia1PSYGENET