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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: 23817

FusionGeneSummary for NDST1_FAM114A2

check button Fusion gene summary
Fusion gene informationFusion gene name: NDST1_FAM114A2
Fusion gene ID: 23817
HgeneTgene
Gene symbol

NDST1

FAM114A2

Gene ID

3340

10827

Gene nameN-deacetylase and N-sulfotransferase 1family with sequence similarity 114 member A2
SynonymsHSST|MRT46|NST1133K02|C5orf3
Cytomap

5q33.1

5q33.2

Type of geneprotein-codingprotein-coding
Descriptionbifunctional heparan sulfate N-deacetylase/N-sulfotransferase 1HSNST 1N-Deacetylase-N-sulfotransferase 1N-HSST 1N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 1N-deacetylase/N-sulfotransferase 1N-heparan sulfate sulfotransferase 1NDST-1[Hprotein FAM114A2testis tissue sperm-binding protein Li 81P
Modification date2018051920180519
UniProtAcc

P52848

Q9NRY5

Ensembl transtripts involved in fusion geneENST00000523767, ENST00000261797, 
ENST00000521752, 		ENST00000351797, 
ENST00000522858, ENST00000520667, 
ENST00000518946, ENST00000520313, 
Fusion gene scores* DoF score2 X 3 X 3=183 X 3 X 3=27
# samples 33
** MAII scorelog2(3/18*10)=0.736965594166206
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0		log2(3/27*10)=0.15200309344505
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
Context

PubMed: NDST1 [Title/Abstract] AND FAM114A2 [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
HgeneNDST1

GO:0015012

heparan sulfate proteoglycan biosynthetic process

9915799

HgeneNDST1

GO:0015014

heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process

9915799


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
TCGARVSKCMTCGA-EE-A2GJ-06ANDST1chr5

149865566

+FAM114A2chr5

153414527

-
TCGALDSKCMTCGA-EE-A2GJ-06ANDST1chr5

149865586

+FAM114A2chr5

153414527

-
* 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
intron-5UTRENST00000523767ENST00000351797NDST1chr5

149865566

+FAM114A2chr5

153414527

-
intron-5UTRENST00000523767ENST00000522858NDST1chr5

149865566

+FAM114A2chr5

153414527

-
intron-5UTRENST00000523767ENST00000520667NDST1chr5

149865566

+FAM114A2chr5

153414527

-
intron-intronENST00000523767ENST00000518946NDST1chr5

149865566

+FAM114A2chr5

153414527

-
intron-5UTRENST00000523767ENST00000520313NDST1chr5

149865566

+FAM114A2chr5

153414527

-
intron-5UTRENST00000261797ENST00000351797NDST1chr5

149865566

+FAM114A2chr5

153414527

-
intron-5UTRENST00000261797ENST00000522858NDST1chr5

149865566

+FAM114A2chr5

153414527

-
intron-5UTRENST00000261797ENST00000520667NDST1chr5

149865566

+FAM114A2chr5

153414527

-
intron-intronENST00000261797ENST00000518946NDST1chr5

149865566

+FAM114A2chr5

153414527

-
intron-5UTRENST00000261797ENST00000520313NDST1chr5

149865566

+FAM114A2chr5

153414527

-
intron-5UTRENST00000521752ENST00000351797NDST1chr5

149865566

+FAM114A2chr5

153414527

-
intron-5UTRENST00000521752ENST00000522858NDST1chr5

149865566

+FAM114A2chr5

153414527

-
intron-5UTRENST00000521752ENST00000520667NDST1chr5

149865566

+FAM114A2chr5

153414527

-
intron-intronENST00000521752ENST00000518946NDST1chr5

149865566

+FAM114A2chr5

153414527

-
intron-5UTRENST00000521752ENST00000520313NDST1chr5

149865566

+FAM114A2chr5

153414527

-
intron-5UTRENST00000523767ENST00000351797NDST1chr5

149865586

+FAM114A2chr5

153414527

-
intron-5UTRENST00000523767ENST00000522858NDST1chr5

149865586

+FAM114A2chr5

153414527

-
intron-5UTRENST00000523767ENST00000520667NDST1chr5

149865586

+FAM114A2chr5

153414527

-
intron-intronENST00000523767ENST00000518946NDST1chr5

149865586

+FAM114A2chr5

153414527

-
intron-5UTRENST00000523767ENST00000520313NDST1chr5

149865586

+FAM114A2chr5

153414527

-
intron-5UTRENST00000261797ENST00000351797NDST1chr5

149865586

+FAM114A2chr5

153414527

-
intron-5UTRENST00000261797ENST00000522858NDST1chr5

149865586

+FAM114A2chr5

153414527

-
intron-5UTRENST00000261797ENST00000520667NDST1chr5

149865586

+FAM114A2chr5

153414527

-
intron-intronENST00000261797ENST00000518946NDST1chr5

149865586

+FAM114A2chr5

153414527

-
intron-5UTRENST00000261797ENST00000520313NDST1chr5

149865586

+FAM114A2chr5

153414527

-
intron-5UTRENST00000521752ENST00000351797NDST1chr5

149865586

+FAM114A2chr5

153414527

-
intron-5UTRENST00000521752ENST00000522858NDST1chr5

149865586

+FAM114A2chr5

153414527

-
intron-5UTRENST00000521752ENST00000520667NDST1chr5

149865586

+FAM114A2chr5

153414527

-
intron-intronENST00000521752ENST00000518946NDST1chr5

149865586

+FAM114A2chr5

153414527

-
intron-5UTRENST00000521752ENST00000520313NDST1chr5

149865586

+FAM114A2chr5

153414527

-

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FusionProtFeatures for NDST1_FAM114A2


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
NDST1

P52848

FAM114A2

Q9NRY5

Essential bifunctional enzyme that catalyzes both the N-deacetylation and the N-sulfation of glucosamine (GlcNAc) of theglycosaminoglycan in heparan sulfate. Modifies the GlcNAc-GlcAdisaccharide repeating sugar backbone to make N-sulfatedheparosan, a prerequisite substrate for later modifications inheparin biosynthesis (PubMed:10758005, PubMed:12634318). Plays arole in determining the extent and pattern of sulfation of heparansulfate. Compared to other NDST enzymes, its presence isabsolutely required. Participates in biosynthesis of heparansulfate that can ultimately serve as L-selectin ligands, therebyplaying a role in inflammatory response (PubMed:10758005,PubMed:12634318). Required for the exosomal release of SDCBP, CD63and syndecan (PubMed:22660413). {ECO:0000269|PubMed:10758005,ECO:0000269|PubMed:12634318, ECO:0000269|PubMed:22660413}.

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 NDST1_FAM114A2


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 NDST1_FAM114A2


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
NDST1CPEB4, TAZ, IDS, PLAUR, HLA-E, NAAA, XRCC5, TMEM132A, CD83, NRROSFAM114A2ELAVL1, COPS5, APP, TMEM51, CD274, KIR3DL1, SCN2B, EWSR1, KIR3DL2, EPHA1, LRRC4, CPNE5, TMEM206, SIGLECL1


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 NDST1_FAM114A2


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 NDST1_FAM114A2


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneNDST1C0015393Eye Abnormalities1CTD_human
HgeneNDST1C0376634Craniofacial Abnormalities1CTD_human
HgeneNDST1C1955869Malformations of Cortical Development1CTD_human
HgeneNDST1C3714756Intellectual Disability1CTD_human;HPO
HgeneNDST1C4015283MENTAL RETARDATION, AUTOSOMAL RECESSIVE 461UNIPROT