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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: 41986

FusionGeneSummary for WHSC1_FAM53A

check button Fusion gene summary
Fusion gene informationFusion gene name: WHSC1_FAM53A
Fusion gene ID: 41986
HgeneTgene
Gene symbol

WHSC1

FAM53A

Gene ID

7468

152877

Gene namenuclear receptor binding SET domain protein 2family with sequence similarity 53 member A
SynonymsKMT3F|KMT3G|MMSET|REIIBP|TRX5|WHS|WHSC1DNTNP
Cytomap

4p16.3

4p16.3

Type of geneprotein-codingprotein-coding
Descriptionhistone-lysine N-methyltransferase NSD2IL5 promoter REII region-binding proteinWolf-Hirschhorn syndrome candidate 1multiple myeloma SET domain containing protein type IIInuclear SET domain-containing protein 2probable histone-lysine N-methyltransferaprotein FAM53Adorsal neural-tube nuclear protein
Modification date2018051920180519
UniProtAcc

Q6NSI3

Ensembl transtripts involved in fusion geneENST00000508803, ENST00000382892, 
ENST00000382891, ENST00000382895, 
ENST00000482415, ENST00000382888, 
ENST00000514045, ENST00000436793, 
ENST00000420906, ENST00000503128, 
ENST00000398261, 		ENST00000308132, 
ENST00000489363, ENST00000461064, 
ENST00000472884, 
Fusion gene scores* DoF score11 X 9 X 5=4952 X 2 X 2=8
# samples 112
** MAII scorelog2(11/495*10)=-2.16992500144231
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(2/8*10)=1.32192809488736
Context

PubMed: WHSC1 [Title/Abstract] AND FAM53A [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

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
TCGARVLUADTCGA-38-4630-01AWHSC1chr4

1957915

+FAM53Achr4

1619838

-
* 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-intronENST00000508803ENST00000308132WHSC1chr4

1957915

+FAM53Achr4

1619838

-
5CDS-intronENST00000508803ENST00000489363WHSC1chr4

1957915

+FAM53Achr4

1619838

-
5CDS-intronENST00000508803ENST00000461064WHSC1chr4

1957915

+FAM53Achr4

1619838

-
5CDS-intronENST00000508803ENST00000472884WHSC1chr4

1957915

+FAM53Achr4

1619838

-
5CDS-intronENST00000382892ENST00000308132WHSC1chr4

1957915

+FAM53Achr4

1619838

-
5CDS-intronENST00000382892ENST00000489363WHSC1chr4

1957915

+FAM53Achr4

1619838

-
5CDS-intronENST00000382892ENST00000461064WHSC1chr4

1957915

+FAM53Achr4

1619838

-
5CDS-intronENST00000382892ENST00000472884WHSC1chr4

1957915

+FAM53Achr4

1619838

-
5CDS-intronENST00000382891ENST00000308132WHSC1chr4

1957915

+FAM53Achr4

1619838

-
5CDS-intronENST00000382891ENST00000489363WHSC1chr4

1957915

+FAM53Achr4

1619838

-
5CDS-intronENST00000382891ENST00000461064WHSC1chr4

1957915

+FAM53Achr4

1619838

-
5CDS-intronENST00000382891ENST00000472884WHSC1chr4

1957915

+FAM53Achr4

1619838

-
5CDS-intronENST00000382895ENST00000308132WHSC1chr4

1957915

+FAM53Achr4

1619838

-
5CDS-intronENST00000382895ENST00000489363WHSC1chr4

1957915

+FAM53Achr4

1619838

-
5CDS-intronENST00000382895ENST00000461064WHSC1chr4

1957915

+FAM53Achr4

1619838

-
5CDS-intronENST00000382895ENST00000472884WHSC1chr4

1957915

+FAM53Achr4

1619838

-
3UTR-intronENST00000482415ENST00000308132WHSC1chr4

1957915

+FAM53Achr4

1619838

-
3UTR-intronENST00000482415ENST00000489363WHSC1chr4

1957915

+FAM53Achr4

1619838

-
3UTR-intronENST00000482415ENST00000461064WHSC1chr4

1957915

+FAM53Achr4

1619838

-
3UTR-intronENST00000482415ENST00000472884WHSC1chr4

1957915

+FAM53Achr4

1619838

-
5CDS-intronENST00000382888ENST00000308132WHSC1chr4

1957915

+FAM53Achr4

1619838

-
5CDS-intronENST00000382888ENST00000489363WHSC1chr4

1957915

+FAM53Achr4

1619838

-
5CDS-intronENST00000382888ENST00000461064WHSC1chr4

1957915

+FAM53Achr4

1619838

-
5CDS-intronENST00000382888ENST00000472884WHSC1chr4

1957915

+FAM53Achr4

1619838

-
intron-intronENST00000514045ENST00000308132WHSC1chr4

1957915

+FAM53Achr4

1619838

-
intron-intronENST00000514045ENST00000489363WHSC1chr4

1957915

+FAM53Achr4

1619838

-
intron-intronENST00000514045ENST00000461064WHSC1chr4

1957915

+FAM53Achr4

1619838

-
intron-intronENST00000514045ENST00000472884WHSC1chr4

1957915

+FAM53Achr4

1619838

-
intron-intronENST00000436793ENST00000308132WHSC1chr4

1957915

+FAM53Achr4

1619838

-
intron-intronENST00000436793ENST00000489363WHSC1chr4

1957915

+FAM53Achr4

1619838

-
intron-intronENST00000436793ENST00000461064WHSC1chr4

1957915

+FAM53Achr4

1619838

-
intron-intronENST00000436793ENST00000472884WHSC1chr4

1957915

+FAM53Achr4

1619838

-
intron-intronENST00000420906ENST00000308132WHSC1chr4

1957915

+FAM53Achr4

1619838

-
intron-intronENST00000420906ENST00000489363WHSC1chr4

1957915

+FAM53Achr4

1619838

-
intron-intronENST00000420906ENST00000461064WHSC1chr4

1957915

+FAM53Achr4

1619838

-
intron-intronENST00000420906ENST00000472884WHSC1chr4

1957915

+FAM53Achr4

1619838

-
intron-intronENST00000503128ENST00000308132WHSC1chr4

1957915

+FAM53Achr4

1619838

-
intron-intronENST00000503128ENST00000489363WHSC1chr4

1957915

+FAM53Achr4

1619838

-
intron-intronENST00000503128ENST00000461064WHSC1chr4

1957915

+FAM53Achr4

1619838

-
intron-intronENST00000503128ENST00000472884WHSC1chr4

1957915

+FAM53Achr4

1619838

-
intron-intronENST00000398261ENST00000308132WHSC1chr4

1957915

+FAM53Achr4

1619838

-
intron-intronENST00000398261ENST00000489363WHSC1chr4

1957915

+FAM53Achr4

1619838

-
intron-intronENST00000398261ENST00000461064WHSC1chr4

1957915

+FAM53Achr4

1619838

-
intron-intronENST00000398261ENST00000472884WHSC1chr4

1957915

+FAM53Achr4

1619838

-

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FusionProtFeatures for WHSC1_FAM53A


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
WHSC1

FAM53A

Q6NSI3

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}. May play an important role in neural development; thedorsomedial roof of the third ventricle.{ECO:0000250|UniProtKB:Q5ZKN5}.

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 WHSC1_FAM53A


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 WHSC1_FAM53A


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
WHSC1AR, HDAC1, SIN3B, WHSC1, HDAC2, SIN3A, KDM1A, BRD4, SIRT7, HIST2H3C, IQGAP1, TIAM1, CTNNB1, MDC1, APP, LSM1, TRIM28, HIST3H3, HIST1H3A, ESR1, RPL14, RPL8, ZC3H3, PRR11, RBM4B, GEMIN4, GEMIN5, DDX20, GOLGA3, MYBBP1A, PLEC, CCDC88C, RPL6, RBM10, PRPSAP2, THRAP3, RPLP0, PTPN13, SMN1, KIF11, WDR77, MYCBP2, MAP1B, SKIV2L2, IFI16, HIST1H4A, DTL, PCNA, CDC14B, WDR46, DGCR8, RPL30, HIST1H1E, PRDM5, ZNF2, CNBP, ZNF692, RPL28, RPL37A, RRP8, CPNE4, KNOP1, GLTSCR2, GPATCH4, ZC3HAV1, TRIM25FAM53AAPP


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 WHSC1_FAM53A


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 WHSC1_FAM53A


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