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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: 10164

FusionGeneSummary for DMXL1_NANS

check button Fusion gene summary
Fusion gene informationFusion gene name: DMXL1_NANS
Fusion gene ID: 10164
HgeneTgene
Gene symbol

DMXL1

NANS

Gene ID

1657

54187

Gene nameDmx like 1N-acetylneuraminate synthase
Synonyms-HEL-S-100|SAS|SEMDCG|SEMDG
Cytomap

5q23.1

9q22.33

Type of geneprotein-codingprotein-coding
DescriptiondmX-like protein 1sialic acid synthaseN-acetylneuraminate-9-phosphate synthaseN-acetylneuraminic acid phosphate synthaseN-acetylneuraminic acid synthaseepididymis secretory protein Li 100sialic acid phosphate synthase
Modification date2018052320180519
UniProtAcc

Q9Y485

Q9NR45

Ensembl transtripts involved in fusion geneENST00000311085, ENST00000539542, 
ENST00000505312, 
ENST00000210444, 
ENST00000461452, 
Fusion gene scores* DoF score2 X 1 X 2=41 X 1 X 1=1
# samples 21
** MAII scorelog2(2/4*10)=2.32192809488736log2(1/1*10)=3.32192809488736
Context

PubMed: DMXL1 [Title/Abstract] AND NANS [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
TCGARVSARCTCGA-DX-A1KZ-01ADMXL1chr5

118407351

+NANSchr9

100843098

+
* 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-frameENST00000311085ENST00000210444DMXL1chr5

118407351

+NANSchr9

100843098

+
5CDS-3UTRENST00000311085ENST00000461452DMXL1chr5

118407351

+NANSchr9

100843098

+
In-frameENST00000539542ENST00000210444DMXL1chr5

118407351

+NANSchr9

100843098

+
5CDS-3UTRENST00000539542ENST00000461452DMXL1chr5

118407351

+NANSchr9

100843098

+
intron-3CDSENST00000505312ENST00000210444DMXL1chr5

118407351

+NANSchr9

100843098

+
intron-3UTRENST00000505312ENST00000461452DMXL1chr5

118407351

+NANSchr9

100843098

+

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FusionProtFeatures for DMXL1_NANS


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
DMXL1

Q9Y485

NANS

Q9NR45

Produces N-acetylneuraminic acid (Neu5Ac) and 2-keto-3-deoxy-D-glycero-D-galacto-nononic acid (KDN). Can also use N-acetylmannosamine 6-phosphate and mannose 6-phosphate assubstrates to generate phosphorylated forms of Neu5Ac and KDN,respectively.

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
TgeneNANSchr5:118407351chr9:100843098ENST00000210444+36294_353201360DomainAFP-like

- In-frame and not-retained protein feature among the 13 regional features.
>>>>>>>>>>>>>>>>>
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgeneDMXL1chr5:118407351chr9:100843098ENST00000311085+1432459_2468293028Compositional biasNote=Poly-Asp
HgeneDMXL1chr5:118407351chr9:100843098ENST00000311085+143108_145293028RepeatNote=WD 1
HgeneDMXL1chr5:118407351chr9:100843098ENST00000311085+1431134_1175293028RepeatNote=WD 9
HgeneDMXL1chr5:118407351chr9:100843098ENST00000311085+1431211_1251293028RepeatNote=WD 10
HgeneDMXL1chr5:118407351chr9:100843098ENST00000311085+143166_206293028RepeatNote=WD 2
HgeneDMXL1chr5:118407351chr9:100843098ENST00000311085+143229_277293028RepeatNote=WD 3
HgeneDMXL1chr5:118407351chr9:100843098ENST00000311085+1432742_2783293028RepeatNote=WD 11
HgeneDMXL1chr5:118407351chr9:100843098ENST00000311085+1432785_2824293028RepeatNote=WD 12
HgeneDMXL1chr5:118407351chr9:100843098ENST00000311085+1432836_2878293028RepeatNote=WD 12
HgeneDMXL1chr5:118407351chr9:100843098ENST00000311085+1432884_2923293028RepeatNote=WD 14
HgeneDMXL1chr5:118407351chr9:100843098ENST00000311085+1432926_2965293028RepeatNote=WD 15
HgeneDMXL1chr5:118407351chr9:100843098ENST00000311085+1432978_3016293028RepeatNote=WD 16
HgeneDMXL1chr5:118407351chr9:100843098ENST00000311085+143476_516293028RepeatNote=WD 4
HgeneDMXL1chr5:118407351chr9:100843098ENST00000311085+143580_621293028RepeatNote=WD 5
HgeneDMXL1chr5:118407351chr9:100843098ENST00000311085+143628_665293028RepeatNote=WD 6
HgeneDMXL1chr5:118407351chr9:100843098ENST00000311085+143848_895293028RepeatNote=WD 7
HgeneDMXL1chr5:118407351chr9:100843098ENST00000311085+143968_1010293028RepeatNote=WD 8


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FusionGeneSequence for DMXL1_NANS


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_DMXL1_ENST00000311085_chr5_118407351_+_NANS_ENST00000210444_chr9_100843098_+_188aa
MNLHQVLTGAVNPGDHCFSVGSIGDQRFTEYQKLFPDIPIGYSGHETGIAISVAAVALGAKVLERHITLDKTWKGSDHSASLEPGELAEL
VRSVRLVERALGSPTKQLLPCEMACNEKLGKSVVAKVKIPEGTILTMDMLTVKVGEPKGYPPEDIFNLVGKKVLVTVEEDDTIMEELVDN

>In-frame_DMXL1_ENST00000539542_chr5_118407351_+_NANS_ENST00000210444_chr9_100843098_+_188aa
MNLHQVLTGAVNPGDHCFSVGSIGDQRFTEYQKLFPDIPIGYSGHETGIAISVAAVALGAKVLERHITLDKTWKGSDHSASLEPGELAEL
VRSVRLVERALGSPTKQLLPCEMACNEKLGKSVVAKVKIPEGTILTMDMLTVKVGEPKGYPPEDIFNLVGKKVLVTVEEDDTIMEELVDN


* Fusion transcript sequences (only coding sequence (CDS) region).
>In-frame_DMXL1_ENST00000311085_chr5_118407351_+_NANS_ENST00000210444_chr9_100843098_+_564nt
ATGAACCTGCACCAGGTGCTGACCGGGGCTGTGAACCCTGGCGACCACTGCTTCTCCGTGGGCAGCATTGGCGACCAGCGCTTCACGGAA
TATCAGAAGCTCTTTCCTGACATTCCCATAGGGTATTCTGGGCATGAAACAGGCATAGCGATATCTGTGGCCGCAGTGGCTCTGGGGGCC
AAGGTGTTGGAACGTCACATAACTTTGGACAAGACCTGGAAGGGGAGTGACCACTCGGCCTCGCTGGAGCCTGGAGAACTGGCCGAGCTG
GTGCGGTCAGTGCGTCTTGTGGAGCGTGCCCTGGGCTCCCCAACCAAGCAGCTGCTGCCCTGTGAGATGGCCTGCAATGAGAAGCTGGGC
AAGTCTGTGGTGGCCAAAGTGAAAATTCCGGAAGGCACCATTCTAACAATGGACATGCTCACCGTGAAGGTGGGTGAGCCCAAAGGCTAT
CCTCCTGAAGACATCTTTAATCTAGTGGGCAAGAAGGTCCTGGTCACTGTTGAAGAGGATGACACCATCATGGAAGAATTGGTAGATAAT

>In-frame_DMXL1_ENST00000539542_chr5_118407351_+_NANS_ENST00000210444_chr9_100843098_+_564nt
ATGAACCTGCACCAGGTGCTGACCGGGGCTGTGAACCCTGGCGACCACTGCTTCTCCGTGGGCAGCATTGGCGACCAGCGCTTCACGGAA
TATCAGAAGCTCTTTCCTGACATTCCCATAGGGTATTCTGGGCATGAAACAGGCATAGCGATATCTGTGGCCGCAGTGGCTCTGGGGGCC
AAGGTGTTGGAACGTCACATAACTTTGGACAAGACCTGGAAGGGGAGTGACCACTCGGCCTCGCTGGAGCCTGGAGAACTGGCCGAGCTG
GTGCGGTCAGTGCGTCTTGTGGAGCGTGCCCTGGGCTCCCCAACCAAGCAGCTGCTGCCCTGTGAGATGGCCTGCAATGAGAAGCTGGGC
AAGTCTGTGGTGGCCAAAGTGAAAATTCCGGAAGGCACCATTCTAACAATGGACATGCTCACCGTGAAGGTGGGTGAGCCCAAAGGCTAT
CCTCCTGAAGACATCTTTAATCTAGTGGGCAAGAAGGTCCTGGTCACTGTTGAAGAGGATGACACCATCATGGAAGAATTGGTAGATAAT


* Fusion transcript sequences (Full-length transcript).
>In-frame_DMXL1_ENST00000311085_chr5_118407351_+_NANS_ENST00000210444_chr9_100843098_+_664nt
GAGGGAAGGAGGGAGGGAAGCAGCCGCTGACCCGTGGCATGAGCTGGATGCGGTGTCCGTTGCAGGACTAGGGCGCCGACATGAACCTGC
ACCAGGTGCTGACCGGGGCTGTGAACCCTGGCGACCACTGCTTCTCCGTGGGCAGCATTGGCGACCAGCGCTTCACGGAATATCAGAAGC
TCTTTCCTGACATTCCCATAGGGTATTCTGGGCATGAAACAGGCATAGCGATATCTGTGGCCGCAGTGGCTCTGGGGGCCAAGGTGTTGG
AACGTCACATAACTTTGGACAAGACCTGGAAGGGGAGTGACCACTCGGCCTCGCTGGAGCCTGGAGAACTGGCCGAGCTGGTGCGGTCAG
TGCGTCTTGTGGAGCGTGCCCTGGGCTCCCCAACCAAGCAGCTGCTGCCCTGTGAGATGGCCTGCAATGAGAAGCTGGGCAAGTCTGTGG
TGGCCAAAGTGAAAATTCCGGAAGGCACCATTCTAACAATGGACATGCTCACCGTGAAGGTGGGTGAGCCCAAAGGCTATCCTCCTGAAG
ACATCTTTAATCTAGTGGGCAAGAAGGTCCTGGTCACTGTTGAAGAGGATGACACCATCATGGAAGAATTGGTAGATAATCATGGCAAAA

>In-frame_DMXL1_ENST00000539542_chr5_118407351_+_NANS_ENST00000210444_chr9_100843098_+_610nt
GTCCGTTGCAGGACTAGGGCGCCGACATGAACCTGCACCAGGTGCTGACCGGGGCTGTGAACCCTGGCGACCACTGCTTCTCCGTGGGCA
GCATTGGCGACCAGCGCTTCACGGAATATCAGAAGCTCTTTCCTGACATTCCCATAGGGTATTCTGGGCATGAAACAGGCATAGCGATAT
CTGTGGCCGCAGTGGCTCTGGGGGCCAAGGTGTTGGAACGTCACATAACTTTGGACAAGACCTGGAAGGGGAGTGACCACTCGGCCTCGC
TGGAGCCTGGAGAACTGGCCGAGCTGGTGCGGTCAGTGCGTCTTGTGGAGCGTGCCCTGGGCTCCCCAACCAAGCAGCTGCTGCCCTGTG
AGATGGCCTGCAATGAGAAGCTGGGCAAGTCTGTGGTGGCCAAAGTGAAAATTCCGGAAGGCACCATTCTAACAATGGACATGCTCACCG
TGAAGGTGGGTGAGCCCAAAGGCTATCCTCCTGAAGACATCTTTAATCTAGTGGGCAAGAAGGTCCTGGTCACTGTTGAAGAGGATGACA


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FusionGenePPI for DMXL1_NANS


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
DMXL1CALM1, ROGDI, ATP6V1C2, ATP6V1B1, RAP1B, RNASEH2A, ATOH1, TRIM25NANSDDA1, PCMT1, CRK, RAD23B, HSP90AA1, HSP90AB1, BAG3, EIF4E, GBP2, ASS1, ATG3, CKB, CNDP2, DAK, MVD, NPEPPS, PDIA3, POLE3, RPLP2, SLC9A3R1, SMEK2, SHMT2, NXF1, AKR1A1, FAHD1, GOT1, MPI, CARKD, DAZAP1, FH, GLOD4, PIR, PKM, TKT, PRDX1, PRDX2, NTRK1, PA2G4, ANXA5, GPI, UBE2N, PPA1, HPRT1, PLS3, TRAP1, SND1


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 DMXL1_NANS


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 DMXL1_NANS


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneDMXL1C0017638Glioma1CTD_human
TgeneNANSC0005941Bone Diseases, Developmental1CTD_human
TgeneNANSC0008073Developmental Disabilities1CTD_human
TgeneNANSC1864872Spondyloepimetaphyseal dysplasia, Genevieve type1ORPHANET;UNIPROT