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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: 12746

FusionGeneSummary for FAM213A_YTHDC1

check button Fusion gene summary
Fusion gene informationFusion gene name: FAM213A_YTHDC1
Fusion gene ID: 12746
HgeneTgene
Gene symbol

FAM213A

YTHDC1

Gene ID

84293

91746

Gene namefamily with sequence similarity 213 member AYTH domain containing 1
SynonymsAdrx|C10orf58|PAMMYT521|YT521-B
Cytomap

10q23.1

4q13.2

Type of geneprotein-codingprotein-coding
Descriptionredox-regulatory protein FAM213AAdiporedoxinUPF0765 protein C10orf58peroxiredoxin (PRX)-like 2 activated in M-CSF stimulated monocytesperoxiredoxin-like 2 activated in M-CSF stimulated monocytesredox-regulatory protein PAMMYTH domain-containing protein 1putative splicing factor YT521splicing factor YT521splicing factor YT521-B
Modification date2018052320180519
UniProtAcc

Q9BRX8

Q96MU7

Ensembl transtripts involved in fusion geneENST00000372188, ENST00000372187, 
ENST00000372185, ENST00000372181, 
ENST00000344157, ENST00000355665, 
ENST00000579690, ENST00000552105, 
ENST00000550485, 
Fusion gene scores* DoF score5 X 6 X 2=605 X 5 X 2=50
# samples 65
** MAII scorelog2(6/60*10)=0log2(5/50*10)=0
Context

PubMed: FAM213A [Title/Abstract] AND YTHDC1 [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
HgeneFAM213A

GO:0045670

regulation of osteoclast differentiation

19951071

HgeneFAM213A

GO:0055114

oxidation-reduction process

19951071

TgeneYTHDC1

GO:0006376

mRNA splice site selection

20167602

TgeneYTHDC1

GO:0048024

regulation of mRNA splicing, via spliceosome

26876937


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
TCGALDBRCATCGA-AQ-A04L-01BFAM213Achr10

82180401

+YTHDC1chr4

69180041

-
* 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
Frame-shiftENST00000372188ENST00000344157FAM213Achr10

82180401

+YTHDC1chr4

69180041

-
Frame-shiftENST00000372188ENST00000355665FAM213Achr10

82180401

+YTHDC1chr4

69180041

-
Frame-shiftENST00000372188ENST00000579690FAM213Achr10

82180401

+YTHDC1chr4

69180041

-
5CDS-intronENST00000372188ENST00000552105FAM213Achr10

82180401

+YTHDC1chr4

69180041

-
5CDS-intronENST00000372188ENST00000550485FAM213Achr10

82180401

+YTHDC1chr4

69180041

-
Frame-shiftENST00000372187ENST00000344157FAM213Achr10

82180401

+YTHDC1chr4

69180041

-
Frame-shiftENST00000372187ENST00000355665FAM213Achr10

82180401

+YTHDC1chr4

69180041

-
Frame-shiftENST00000372187ENST00000579690FAM213Achr10

82180401

+YTHDC1chr4

69180041

-
5CDS-intronENST00000372187ENST00000552105FAM213Achr10

82180401

+YTHDC1chr4

69180041

-
5CDS-intronENST00000372187ENST00000550485FAM213Achr10

82180401

+YTHDC1chr4

69180041

-
Frame-shiftENST00000372185ENST00000344157FAM213Achr10

82180401

+YTHDC1chr4

69180041

-
Frame-shiftENST00000372185ENST00000355665FAM213Achr10

82180401

+YTHDC1chr4

69180041

-
Frame-shiftENST00000372185ENST00000579690FAM213Achr10

82180401

+YTHDC1chr4

69180041

-
5CDS-intronENST00000372185ENST00000552105FAM213Achr10

82180401

+YTHDC1chr4

69180041

-
5CDS-intronENST00000372185ENST00000550485FAM213Achr10

82180401

+YTHDC1chr4

69180041

-
Frame-shiftENST00000372181ENST00000344157FAM213Achr10

82180401

+YTHDC1chr4

69180041

-
Frame-shiftENST00000372181ENST00000355665FAM213Achr10

82180401

+YTHDC1chr4

69180041

-
Frame-shiftENST00000372181ENST00000579690FAM213Achr10

82180401

+YTHDC1chr4

69180041

-
5CDS-intronENST00000372181ENST00000552105FAM213Achr10

82180401

+YTHDC1chr4

69180041

-
5CDS-intronENST00000372181ENST00000550485FAM213Achr10

82180401

+YTHDC1chr4

69180041

-

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FusionProtFeatures for FAM213A_YTHDC1


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
FAM213A

Q9BRX8

YTHDC1

Q96MU7

Involved in redox regulation of the cell(PubMed:26438880, PubMed:19951071). Acts as an antioxidant(PubMed:19951071, PubMed:26438880). Inhibits TNFSF11-induced NFKB1and JUN activation and osteoclast differentiation(PubMed:19951071). May affect bone resorption and help to maintainbone mass (PubMed:19951071). Acts as a negative regulator ofmacrophage-mediated inflammation by inhibiting macrophageproduction of inflammatory cytokines, probably through suppressionof the MAPK signaling pathway (PubMed:26438880).{ECO:0000269|PubMed:19951071, ECO:0000269|PubMed:26438880}. Regulator of alternative splicing that specificallyrecognizes and binds N6-methyladenosine (m6A)-containing RNAs(PubMed:26318451, PubMed:26876937, PubMed:25242552,PubMed:28984244). M6A is a modification present at internal sitesof mRNAs and some non-coding RNAs and plays a role in theefficiency of mRNA splicing, processing and stability(PubMed:26318451, PubMed:25242552). Acts as a key regulator ofexon-inclusion or exon-skipping during alternative splicing viainteraction with mRNA splicing factors SRSF3 and SRSF10(PubMed:26876937). Specifically binds m6A-containing mRNAs andpromotes recruitment of SRSF3 to its mRNA-binding elementsadjacent to m6A sites, leading to exon-inclusion duringalternative splicing (PubMed:26876937). In contrast, interactionwith SRSF3 prevents interaction with SRSF10, a splicing factorthat promotes exon skipping: this prevents SRSF10 from binding toits mRNA-binding sites close to m6A-containing regions, leading toinhibit exon skipping during alternative splicing(PubMed:26876937). May also regulate alternative splice siteselection (PubMed:20167602). Also involved in nuclear export ofm6A-containing mRNAs via interaction with SRSF3: interaction withSRSF3 facilitates m6A-containing mRNA-binding to both SRSF3 andNXF1, promoting mRNA nuclear export (PubMed:28984244). Alsorecognizes and binds m6A on other RNA molecules (PubMed:27602518).Involved in random X inactivation mediated by Xist RNA: recognizesand binds m6A-containing Xist and promotes transcriptionrepression activity of Xist (PubMed:27602518). Involved in S-adenosyl-L-methionine homeostasis by regulating expression ofMAT2A transcripts, probably by binding m6A-containing MAT2A mRNAs(By similarity). {ECO:0000250|UniProtKB:E9Q5K9,ECO:0000269|PubMed:20167602, ECO:0000269|PubMed:25242552,ECO:0000269|PubMed:26318451, ECO:0000269|PubMed:26876937,ECO:0000269|PubMed:27602518, ECO:0000269|PubMed:28984244}.

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 FAM213A_YTHDC1


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 FAM213A_YTHDC1


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
FAM213AAPP, ST3GAL4, HLA-C, A4GNT, COQ9, YIPF3, CSGALNACT2, SLC18A1, GRPR, TLR5, SLC39A12, ADPGK, TMEM30A, HLA-G, TACR1, GPR114, RTN1, TSPAN5, CHRND, GDPD5, FAM131B, MMEYTHDC1ABL1, EMD, KHDRBS1, ISG15, MAGOH, EIF4A3, KIAA0101, ADAMTS4, SOX13, GOLGA2, LAMC3, LZTS2, PLG, CFH, VPS51, KRT18, TRA2B, LAMTOR5, CORO1A, MPRIP, EDC4, TRA2A, SEPT10, PROSER2, SRPK1, SRPK2, CLK2, DVL3, HNRNPK, KHDRBS3, SDCBP2, RBMY1F, KHDRBS2, BMI1, RALYL, HNRNPA1, ILF2, RBMX, SNIP1, SRC, IFI16, CLK1, KPNB1, SLAIN2, FOXK2, ZC3H18, APOBEC3D, ELAVL2, CLK3, FBXW11, C11orf57, CDX1, SNRNP70, GSPT2, NXF2, HIST1H1T, DLST


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 FAM213A_YTHDC1


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 FAM213A_YTHDC1


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