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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: 22766

FusionGeneSummary for MTHFS_ACAN

check button Fusion gene summary
Fusion gene informationFusion gene name: MTHFS_ACAN
Fusion gene ID: 22766
HgeneTgene
Gene symbol

MTHFS

ACAN

Gene ID

10588

176

Gene namemethenyltetrahydrofolate synthetaseaggrecan
SynonymsHsT19268AGC1|AGCAN|CSPG1|CSPGCP|MSK16|SEDK|SSOAOD
Cytomap

15q25.1

15q26.1

Type of geneprotein-codingprotein-coding
Description5-formyltetrahydrofolate cyclo-ligase5,10-methenyltetrahydrofolate synthetase (5-formyltetrahydrofolate cyclo-ligase)methenyl-THF synthetaseaggrecan core proteincartilage-specific proteoglycan core proteinchondroitin sulfate proteoglycan core protein 1large aggregating proteoglycan
Modification date2018052320180523
UniProtAcc

P49914

Ensembl transtripts involved in fusion geneENST00000258874, ENST00000559722, 
ENST00000439576, ENST00000558207, 
ENST00000559004, ENST00000352105, 
ENST00000561243, 
Fusion gene scores* DoF score3 X 2 X 4=245 X 5 X 3=75
# samples 55
** MAII scorelog2(5/24*10)=1.05889368905357
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
log2(5/75*10)=-0.584962500721156
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: MTHFS [Title/Abstract] AND ACAN [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
HgeneMTHFS

GO:0046653

tetrahydrofolate metabolic process

7766710|19738041


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
TCGARVSTADTCGA-IN-8462-01AMTHFSchr15

80181435

-ACANchr15

89414613

+
* 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
In-frameENST00000258874ENST00000439576MTHFSchr15

80181435

-ACANchr15

89414613

+
5CDS-intronENST00000258874ENST00000558207MTHFSchr15

80181435

-ACANchr15

89414613

+
5CDS-intronENST00000258874ENST00000559004MTHFSchr15

80181435

-ACANchr15

89414613

+
5CDS-intronENST00000258874ENST00000352105MTHFSchr15

80181435

-ACANchr15

89414613

+
5CDS-intronENST00000258874ENST00000561243MTHFSchr15

80181435

-ACANchr15

89414613

+
Frame-shiftENST00000559722ENST00000439576MTHFSchr15

80181435

-ACANchr15

89414613

+
5CDS-intronENST00000559722ENST00000558207MTHFSchr15

80181435

-ACANchr15

89414613

+
5CDS-intronENST00000559722ENST00000559004MTHFSchr15

80181435

-ACANchr15

89414613

+
5CDS-intronENST00000559722ENST00000352105MTHFSchr15

80181435

-ACANchr15

89414613

+
5CDS-intronENST00000559722ENST00000561243MTHFSchr15

80181435

-ACANchr15

89414613

+

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FusionProtFeatures for MTHFS_ACAN


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

P49914

ACAN

Contributes to tetrahydrofolate metabolism. Helpsregulate carbon flow through the folate-dependent one-carbonmetabolic network that supplies carbon for the biosynthesis ofpurines, thymidine and amino acids. Catalyzes the irreversibleconversion of 5-formyltetrahydrofolate (5-FTHF) to yield 5,10-methenyltetrahydrofolate. {ECO:0000269|PubMed:8522195}. Lectin that binds to various sugars: galactose > mannose= fucose > N-acetylglucosamine > N-acetylgalactosamine(PubMed:10224141). Acts as a chemoattractant, probably involved inthe regulation of cell migration (PubMed:28301481).{ECO:0000269|PubMed:10224141, ECO:0000269|PubMed:28301481}.

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
HgeneMTHFSchr15:80181435chr15:89414613ENST00000258874-2310_14126204Nucleotide bindingNote=ATP

- In-frame and not-retained protein feature among the 13 regional features.
>>
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgeneMTHFSchr15:80181435chr15:89414613ENST00000258874-23145_153126204Nucleotide bindingNote=ATP
HgeneMTHFSchr15:80181435chr15:89414613ENST00000258874-23148_152126204RegionNote=Substrate binding


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FusionGeneSequence for MTHFS_ACAN


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.
>In-frame_MTHFS_ENST00000258874_chr15_80181435_-_ACAN_ENST00000439576_chr15_89414613_+_342aa
MAAAAVSSAKRSLRGELKQRLRAMSAEERLRQSRVLSQKVIAHSEYQKSKRISIFLSMQDEIETEEIIKDIFQRGKICFIPRYRFQSNHM
DMVRIESPEEISLLPKTSWNIPQPGEGDVREEALSTDQEVCEEGWNKYQGHCYRHFPDRETWVDAERRCREQQSHLSSIVTPEEQEFVNN
NAQDYQWIGLNDRTIEGDFRWSDGHPMQFENWRPNQPDNFFAAGEDCVVMIWHEKGEWNDVPCNYHLPFTCKKGTVACGEPPVVEHARTF


* Fusion transcript sequences (only coding sequence (CDS) region).
>In-frame_MTHFS_ENST00000258874_chr15_80181435_-_ACAN_ENST00000439576_chr15_89414613_+_1026nt
ATGGCGGCGGCAGCGGTGAGCAGCGCCAAGCGGAGCCTGCGGGGAGAGCTGAAGCAGCGTCTGCGGGCGATGAGTGCCGAGGAGCGGCTA
CGCCAGTCCCGCGTACTGAGCCAGAAGGTGATTGCCCACAGTGAGTATCAAAAGTCCAAAAGAATTTCCATCTTTCTGAGCATGCAAGAT
GAAATTGAGACAGAAGAGATCATCAAGGACATTTTCCAACGAGGCAAAATCTGCTTCATCCCTCGGTACCGGTTCCAGAGCAATCACATG
GATATGGTGAGAATAGAATCACCAGAGGAAATTTCTTTACTTCCCAAAACATCCTGGAATATCCCTCAGCCTGGTGAGGGTGATGTTCGG
GAGGAGGCCTTGTCCACAGACCAGGAGGTATGTGAGGAGGGCTGGAACAAGTACCAGGGCCACTGTTACCGCCACTTCCCGGACCGCGAG
ACCTGGGTGGATGCTGAGCGCCGGTGTCGGGAGCAGCAGTCACACCTGAGCAGCATCGTCACCCCCGAGGAGCAGGAGTTTGTCAACAAC
AATGCCCAAGACTACCAGTGGATCGGCCTGAACGACAGGACCATCGAAGGGGACTTCCGCTGGTCAGATGGACACCCCATGCAATTTGAG
AACTGGCGCCCCAACCAGCCTGACAACTTTTTTGCCGCTGGAGAGGACTGTGTGGTGATGATCTGGCACGAGAAGGGCGAGTGGAATGAT
GTTCCCTGCAATTACCACCTCCCCTTCACGTGTAAAAAGGGCACAGTGGCCTGCGGAGAGCCCCCTGTGGTGGAGCATGCCAGGACCTTC
GGGCAGAAGAAGGACCGGTATGAGATCAATTCCCTGGTGCGGTACCAGTGCACAGAGGGGTTTGTCCAGCGCCACATGCCCACCATCCGG
TGCCAGCCCAGCGGGCACTGGGAGGAGCCTCAGATCACCTGCACAGACCCCACCACCTACAAACGCAGACTACAGAAGCGGAGCTCACGG


* Fusion transcript sequences (Full-length transcript).
>In-frame_MTHFS_ENST00000258874_chr15_80181435_-_ACAN_ENST00000439576_chr15_89414613_+_1960nt
AGACCGAACCCGAGGGCGCCCAGGGCGCCGAGGGCGGGACTGGACTCGGCTTGGGCGTGAGATGGCGGCGGCAGCGGTGAGCAGCGCCAA
GCGGAGCCTGCGGGGAGAGCTGAAGCAGCGTCTGCGGGCGATGAGTGCCGAGGAGCGGCTACGCCAGTCCCGCGTACTGAGCCAGAAGGT
GATTGCCCACAGTGAGTATCAAAAGTCCAAAAGAATTTCCATCTTTCTGAGCATGCAAGATGAAATTGAGACAGAAGAGATCATCAAGGA
CATTTTCCAACGAGGCAAAATCTGCTTCATCCCTCGGTACCGGTTCCAGAGCAATCACATGGATATGGTGAGAATAGAATCACCAGAGGA
AATTTCTTTACTTCCCAAAACATCCTGGAATATCCCTCAGCCTGGTGAGGGTGATGTTCGGGAGGAGGCCTTGTCCACAGACCAGGAGGT
ATGTGAGGAGGGCTGGAACAAGTACCAGGGCCACTGTTACCGCCACTTCCCGGACCGCGAGACCTGGGTGGATGCTGAGCGCCGGTGTCG
GGAGCAGCAGTCACACCTGAGCAGCATCGTCACCCCCGAGGAGCAGGAGTTTGTCAACAACAATGCCCAAGACTACCAGTGGATCGGCCT
GAACGACAGGACCATCGAAGGGGACTTCCGCTGGTCAGATGGACACCCCATGCAATTTGAGAACTGGCGCCCCAACCAGCCTGACAACTT
TTTTGCCGCTGGAGAGGACTGTGTGGTGATGATCTGGCACGAGAAGGGCGAGTGGAATGATGTTCCCTGCAATTACCACCTCCCCTTCAC
GTGTAAAAAGGGCACAGTGGCCTGCGGAGAGCCCCCTGTGGTGGAGCATGCCAGGACCTTCGGGCAGAAGAAGGACCGGTATGAGATCAA
TTCCCTGGTGCGGTACCAGTGCACAGAGGGGTTTGTCCAGCGCCACATGCCCACCATCCGGTGCCAGCCCAGCGGGCACTGGGAGGAGCC
TCAGATCACCTGCACAGACCCCACCACCTACAAACGCAGACTACAGAAGCGGAGCTCACGGCACCCTCGGAGGAGCCGCCCCAGCACAGC
CCACTGAGAAGAGCTTCCAGGACGCACCCAGGACGCTGAGCCCAGGAGCCTGCCAGGCTGACGTGCATCCCACCCAGACGGTGTCCTCTT
CTTGTCGCTTTTTGTCATATAAGGAATCCCATTAAAGAAGGAAAAAAATAAATCCCACATTTGTGTATGCACCCACTCACCCCTCCAAAT
CAGCAAAACCGCATCTAATTTGTCCGCCGAATGCCAAAGCAAAGCAAACTTATTATAACCCTTGGACTGAGTTTAGAGACATTTCTTCAA
TTTCCCATCGTGCCTTTCCAGGGACCAGTGCAGGGACAGGGGGAGAAGGGGAGGGGTTAAGTTAAATAAAGAAGATTATTTTTGTTTCCT
GACTTTATCCAAGAGCAGTGCAATCGTTGGTTATTTCACCTCCAGGGAGAGCTAGGGAGGAGGGAGGAGGGCTCCAAAGGAGCTGGAAGG
AGCAGAGGCCTGAGAGCAGGAAGAACTCGGAACCGCAGCTGAATGTATTGGATGAGAAGGAGCCAGGAGGGCTACACCATCTGTATGAGG
GAAAAGCCTTGGGGGAGAGGGGTGGGTTCCTGCCTCCTGCCGAGGGTAAGCCGGCAGGAGAGAGCCATCAGAGGGACCTCCGCTGCCTGG
GAGTTGGGTTCCCTCCAAGGGTCCCTCTTTCAGTGTCCTCTCTCTCACCTGGGTCTGCCACCCTAACAGGTGGCAACTCGGCAGGGCTGC
TGGGGGCACTTCCTGCCCAGTGGGGGGTGCCGCCCAACCTTCTCCCCTCCCCACCCCCGCCCCCGGGACCGTGCAGGCACCAGGGTTCCG


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FusionGenePPI for MTHFS_ACAN


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
MTHFSTSC22D4, NDUFS3, PLCL2ACANLUM, TNFAIP6, TNR, FBLN2


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 MTHFS_ACAN


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 MTHFS_ACAN


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneMTHFSC0008924Cleft Lip1CTD_human
HgeneMTHFSC0008925Cleft Palate1CTD_human
TgeneACANC0003873Rheumatoid Arthritis1CTD_human
TgeneACANC0032273Pneumoconiosis1CTD_human
TgeneACANC0238288Muscular Dystrophy, Facioscapulohumeral1CTD_human
TgeneACANC2748544Spondyloepimetaphyseal Dysplasia, Aggrecan Type1CTD_human;ORPHANET;UNIPROT
TgeneACANC3665488Familial Osteochondritis Dissecans1CTD_human;ORPHANET;UNIPROT