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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: 34591

FusionGeneSummary for SLC6A17_DPYD

check button Fusion gene summary
Fusion gene informationFusion gene name: SLC6A17_DPYD
Fusion gene ID: 34591
HgeneTgene
Gene symbol

SLC6A17

DPYD

Gene ID

388662

1806

Gene namesolute carrier family 6 member 17dihydropyrimidine dehydrogenase
SynonymsMRT48|NTT4DHP|DHPDHASE|DPD
Cytomap

1p13.3

1p21.3

Type of geneprotein-codingprotein-coding
Descriptionsodium-dependent neutral amino acid transporter SLC6A17orphan sodium- and chloride-dependent neurotransmitter transporter NTT4dihydropyrimidine dehydrogenase [NADP(+)]dihydrothymine dehydrogenasedihydrouracil dehydrogenase
Modification date2018052320180523
UniProtAcc

Q9H1V8

Q12882

Ensembl transtripts involved in fusion geneENST00000331565, ENST00000465159, 
ENST00000370192, ENST00000474241, 
ENST00000423006, ENST00000306031, 
Fusion gene scores* DoF score2 X 2 X 2=88 X 8 X 5=320
# samples 28
** MAII scorelog2(2/8*10)=1.32192809488736log2(8/320*10)=-2
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: SLC6A17 [Title/Abstract] AND DPYD [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
TgeneDPYD

GO:0006210

thymine catabolic process

10410956

TgeneDPYD

GO:0006212

uracil catabolic process

1512248|18075467

TgeneDPYD

GO:0006214

thymidine catabolic process

1512248


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-EB-A82C-01ASLC6A17chr1

110719361

+DPYDchr1

97564188

-
* 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-frameENST00000331565ENST00000370192SLC6A17chr1

110719361

+DPYDchr1

97564188

-
5CDS-intronENST00000331565ENST00000474241SLC6A17chr1

110719361

+DPYDchr1

97564188

-
5CDS-intronENST00000331565ENST00000423006SLC6A17chr1

110719361

+DPYDchr1

97564188

-
5CDS-intronENST00000331565ENST00000306031SLC6A17chr1

110719361

+DPYDchr1

97564188

-
intron-3CDSENST00000465159ENST00000370192SLC6A17chr1

110719361

+DPYDchr1

97564188

-
intron-intronENST00000465159ENST00000474241SLC6A17chr1

110719361

+DPYDchr1

97564188

-
intron-intronENST00000465159ENST00000423006SLC6A17chr1

110719361

+DPYDchr1

97564188

-
intron-intronENST00000465159ENST00000306031SLC6A17chr1

110719361

+DPYDchr1

97564188

-

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FusionProtFeatures for SLC6A17_DPYD


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
SLC6A17

Q9H1V8

DPYD

Q12882

Functions as a sodium-dependent vesicular transporterselective for proline, glycine, leucine and alanine. In contrastto other members of this neurotransmitter transporter family, doesnot appear to be chloride-dependent (By similarity).{ECO:0000250|UniProtKB:P31662}.

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
HgeneSLC6A17chr1:110719361chr1:97564188ENST00000331565+612117_147288728Topological domainCytoplasmic
HgeneSLC6A17chr1:110719361chr1:97564188ENST00000331565+612169_222288728Topological domainExtracellular
HgeneSLC6A17chr1:110719361chr1:97564188ENST00000331565+6121_69288728Topological domainCytoplasmic
HgeneSLC6A17chr1:110719361chr1:97564188ENST00000331565+612244_253288728Topological domainCytoplasmic
HgeneSLC6A17chr1:110719361chr1:97564188ENST00000331565+61291_95288728Topological domainExtracellular
HgeneSLC6A17chr1:110719361chr1:97564188ENST00000331565+612148_168288728TransmembraneHelical%3B Name%3D3
HgeneSLC6A17chr1:110719361chr1:97564188ENST00000331565+612223_243288728TransmembraneHelical%3B Name%3D4
HgeneSLC6A17chr1:110719361chr1:97564188ENST00000331565+612254_274288728TransmembraneHelical%3B Name%3D5
HgeneSLC6A17chr1:110719361chr1:97564188ENST00000331565+61270_90288728TransmembraneHelical%3B Name%3D1
HgeneSLC6A17chr1:110719361chr1:97564188ENST00000331565+61296_116288728TransmembraneHelical%3B Name%3D2
TgeneDPYDchr1:110719361chr1:97564188ENST00000370192-1923944_9768741026Domain4Fe-4S ferredoxin-type 2
TgeneDPYDchr1:110719361chr1:97564188ENST00000370192-1923978_10078741026Domain4Fe-4S ferredoxin-type 3

- In-frame and not-retained protein feature among the 13 regional features.
>>>>>>>>>>>>>>>
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgeneSLC6A17chr1:110719361chr1:97564188ENST00000331565+612275_300288728Topological domainExtracellular
HgeneSLC6A17chr1:110719361chr1:97564188ENST00000331565+612322_334288728Topological domainCytoplasmic
HgeneSLC6A17chr1:110719361chr1:97564188ENST00000331565+612356_460288728Topological domainExtracellular
HgeneSLC6A17chr1:110719361chr1:97564188ENST00000331565+612482_490288728Topological domainCytoplasmic
HgeneSLC6A17chr1:110719361chr1:97564188ENST00000331565+612512_527288728Topological domainExtracellular
HgeneSLC6A17chr1:110719361chr1:97564188ENST00000331565+612549_573288728Topological domainCytoplasmic
HgeneSLC6A17chr1:110719361chr1:97564188ENST00000331565+612595_617288728Topological domainExtracellular
HgeneSLC6A17chr1:110719361chr1:97564188ENST00000331565+612639_727288728Topological domainCytoplasmic
HgeneSLC6A17chr1:110719361chr1:97564188ENST00000331565+612301_321288728TransmembraneHelical%3B Name%3D6
HgeneSLC6A17chr1:110719361chr1:97564188ENST00000331565+612335_355288728TransmembraneHelical%3B Name%3D7
HgeneSLC6A17chr1:110719361chr1:97564188ENST00000331565+612461_481288728TransmembraneHelical%3B Name%3D8
HgeneSLC6A17chr1:110719361chr1:97564188ENST00000331565+612491_511288728TransmembraneHelical%3B Name%3D9
HgeneSLC6A17chr1:110719361chr1:97564188ENST00000331565+612528_548288728TransmembraneHelical%3B Name%3D10
HgeneSLC6A17chr1:110719361chr1:97564188ENST00000331565+612574_594288728TransmembraneHelical%3B Name%3D11
HgeneSLC6A17chr1:110719361chr1:97564188ENST00000331565+612618_638288728TransmembraneHelical%3B Name%3D12
TgeneDPYDchr1:110719361chr1:97564188ENST00000370192-192369_1008741026Domain4Fe-4S ferredoxin-type 1
TgeneDPYDchr1:110719361chr1:97564188ENST00000370192-1923194_1988741026Nucleotide bindingFAD
TgeneDPYDchr1:110719361chr1:97564188ENST00000370192-1923218_2268741026Nucleotide bindingFAD
TgeneDPYDchr1:110719361chr1:97564188ENST00000370192-1923340_3438741026Nucleotide bindingNADP
TgeneDPYDchr1:110719361chr1:97564188ENST00000370192-1923364_3658741026Nucleotide bindingNADP
TgeneDPYDchr1:110719361chr1:97564188ENST00000370192-1923437_4398741026Nucleotide bindingNADP
TgeneDPYDchr1:110719361chr1:97564188ENST00000370192-1923480_4898741026Nucleotide bindingFAD
TgeneDPYDchr1:110719361chr1:97564188ENST00000370192-1923481_4878741026Nucleotide bindingNADP
TgeneDPYDchr1:110719361chr1:97564188ENST00000370192-1923574_5758741026Nucleotide bindingFMN
TgeneDPYDchr1:110719361chr1:97564188ENST00000370192-1923793_7958741026Nucleotide bindingFMN
TgeneDPYDchr1:110719361chr1:97564188ENST00000370192-1923816_8178741026Nucleotide bindingFMN
TgeneDPYDchr1:110719361chr1:97564188ENST00000370192-1923668_6708741026RegionSubstrate binding
TgeneDPYDchr1:110719361chr1:97564188ENST00000370192-1923736_7378741026RegionSubstrate binding


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FusionGeneSequence for SLC6A17_DPYD


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_SLC6A17_ENST00000331565_chr1_110719361_+_DPYD_ENST00000370192_chr1_97564188_-_440aa
MPKNSKVTQREHSSEHVTESVADLLALEEPVDYKQSVLNVAGEAGGKQKAVEEELDAEDRPAWNSKLQYILAQIGFSVGLGNIWRFPYLC
QKNGGGAYLVPYLVLLIIIGIPLFFLELAVGQRIRRGSIGVWHYICPRLGGIGFSSCIVCLFVGLYYNVIIGWSIFYFFKSFQYPLPWSE
CPVVRNGSVAVVEAECEKSSATTYFWYREALDISDSISESGGLNWKMTLCLLVAWSIVGMAVVKGIQSSGKVMYFSSLFPYVVLACFLVR
GLLLRGAVDGILHMFTPKKLPSFGPYLEQRKKIIAENKIRLKEQNVAFSPLKRNCFIPKRPIPTIKDVIGKALQYLGTFGELSNVEQVVA


* Fusion transcript sequences (only coding sequence (CDS) region).
>In-frame_SLC6A17_ENST00000331565_chr1_110719361_+_DPYD_ENST00000370192_chr1_97564188_-_1320nt
ATGCCGAAGAACAGCAAAGTGACCCAGCGTGAGCACAGCAGTGAGCATGTCACTGAGTCCGTGGCCGACCTGCTGGCCCTCGAGGAGCCT
GTGGACTATAAGCAGAGTGTACTGAATGTGGCTGGTGAGGCAGGCGGCAAGCAGAAGGCGGTGGAGGAGGAGCTGGATGCAGAGGACCGG
CCGGCCTGGAACAGTAAGCTGCAGTACATCCTGGCCCAGATTGGCTTCTCTGTGGGCCTCGGCAACATCTGGAGGTTCCCCTACCTGTGC
CAGAAAAATGGAGGAGGTGCTTACCTGGTGCCCTACCTGGTGCTGCTGATCATCATCGGGATCCCCCTCTTCTTCCTGGAGCTGGCTGTG
GGTCAGAGGATCCGCCGCGGCAGCATCGGTGTGTGGCACTATATATGTCCCCGCCTGGGGGGCATCGGCTTCTCCAGCTGCATAGTCTGT
CTCTTTGTGGGGCTGTATTATAATGTGATCATCGGGTGGAGCATCTTCTATTTCTTCAAGTCCTTCCAGTACCCGCTGCCCTGGAGTGAA
TGTCCTGTCGTCAGGAATGGGAGCGTGGCAGTGGTGGAGGCAGAGTGTGAAAAGAGCTCAGCCACTACCTACTTCTGGTACCGAGAGGCC
TTGGACATCTCTGACTCCATCTCGGAGAGTGGGGGCCTCAACTGGAAGATGACCCTGTGCCTCCTCGTGGCCTGGAGCATCGTGGGGATG
GCTGTCGTTAAGGGCATCCAGTCCTCGGGGAAGGTGATGTATTTCAGCTCCCTCTTCCCCTACGTGGTGCTGGCCTGCTTCCTGGTCCGG
GGGCTGTTGCTGCGAGGGGCAGTTGATGGCATCCTACACATGTTCACTCCCAAGAAACTGCCAAGTTTTGGACCTTATCTGGAACAGCGC
AAGAAAATCATAGCAGAAAACAAGATTAGACTGAAAGAACAAAATGTAGCTTTTTCACCACTTAAGAGAAACTGTTTTATCCCCAAAAGG
CCTATTCCTACCATCAAGGATGTAATAGGAAAAGCACTGCAGTACCTTGGAACATTTGGTGAATTGAGCAACGTAGAGCAAGTTGTGGCT
ATGATTGATGAAGAAATGTGTATCAACTGTGGTAAATGCTACATGACCTGTAATGATTCTGGCTACCAGGCTATACAGTTTGATCCAGAA
ACCCACCTGCCCACCATAACCGACACTTGTACAGGCTGTACTCTGTGTCTCAGTGTTTGCCCTATTGTCGACTGCATCAAAATGGTTTCC


* Fusion transcript sequences (Full-length transcript).
>In-frame_SLC6A17_ENST00000331565_chr1_110719361_+_DPYD_ENST00000370192_chr1_97564188_-_3038nt
AGGGTGGCCTTTCGGAAAGCGAGGGAACAGTGCGCGCAGCGCTCCGCCCAGCTCCGTTCTGCTCCGCAGAGCCGGCGCTGCCAGGGCGCA
GGGAGGGCGGCACTCGGCCCCAGTCTTCGCAATCCCGCGCGCTCTCTCCGCCGTGGGACCTGGGTCCCCGCGCCGCTCCCCTGAGCCCCG
AGCGCGCGGCGGGCGGGAGCCAGGTTGGGACTGGTGGTGAGGCAGGGAGTGAGGAGCGAGCGGAGTCGCGTGCGCCGGCGCGCAGCTCCG
GGTCGCCCCAGCCCCAGCCGGGGGCCTGTGGCCCGGGGGAGGAGCTGTGCGTCCGCGACCCGTCGGGGATCGCAGCTGCTCGGCCGGAGT
GCACGGGCCGAGTCTGCGCGACTACCCACGCGTGACAGGTCCCTGAATGAGAAGGAGCTGACAGCAGCTGAATTCCATCTTCTCTGTGTG
CTGGGGAGCAGGGCTACACGGCCCAGGTGGCATCAATGCCGAAGAACAGCAAAGTGACCCAGCGTGAGCACAGCAGTGAGCATGTCACTG
AGTCCGTGGCCGACCTGCTGGCCCTCGAGGAGCCTGTGGACTATAAGCAGAGTGTACTGAATGTGGCTGGTGAGGCAGGCGGCAAGCAGA
AGGCGGTGGAGGAGGAGCTGGATGCAGAGGACCGGCCGGCCTGGAACAGTAAGCTGCAGTACATCCTGGCCCAGATTGGCTTCTCTGTGG
GCCTCGGCAACATCTGGAGGTTCCCCTACCTGTGCCAGAAAAATGGAGGAGGTGCTTACCTGGTGCCCTACCTGGTGCTGCTGATCATCA
TCGGGATCCCCCTCTTCTTCCTGGAGCTGGCTGTGGGTCAGAGGATCCGCCGCGGCAGCATCGGTGTGTGGCACTATATATGTCCCCGCC
TGGGGGGCATCGGCTTCTCCAGCTGCATAGTCTGTCTCTTTGTGGGGCTGTATTATAATGTGATCATCGGGTGGAGCATCTTCTATTTCT
TCAAGTCCTTCCAGTACCCGCTGCCCTGGAGTGAATGTCCTGTCGTCAGGAATGGGAGCGTGGCAGTGGTGGAGGCAGAGTGTGAAAAGA
GCTCAGCCACTACCTACTTCTGGTACCGAGAGGCCTTGGACATCTCTGACTCCATCTCGGAGAGTGGGGGCCTCAACTGGAAGATGACCC
TGTGCCTCCTCGTGGCCTGGAGCATCGTGGGGATGGCTGTCGTTAAGGGCATCCAGTCCTCGGGGAAGGTGATGTATTTCAGCTCCCTCT
TCCCCTACGTGGTGCTGGCCTGCTTCCTGGTCCGGGGGCTGTTGCTGCGAGGGGCAGTTGATGGCATCCTACACATGTTCACTCCCAAGA
AACTGCCAAGTTTTGGACCTTATCTGGAACAGCGCAAGAAAATCATAGCAGAAAACAAGATTAGACTGAAAGAACAAAATGTAGCTTTTT
CACCACTTAAGAGAAACTGTTTTATCCCCAAAAGGCCTATTCCTACCATCAAGGATGTAATAGGAAAAGCACTGCAGTACCTTGGAACAT
TTGGTGAATTGAGCAACGTAGAGCAAGTTGTGGCTATGATTGATGAAGAAATGTGTATCAACTGTGGTAAATGCTACATGACCTGTAATG
ATTCTGGCTACCAGGCTATACAGTTTGATCCAGAAACCCACCTGCCCACCATAACCGACACTTGTACAGGCTGTACTCTGTGTCTCAGTG
TTTGCCCTATTGTCGACTGCATCAAAATGGTTTCCAGGACAACACCTTATGAACCAAAGAGAGGCGTACCCTTATCTGTGAATCCGGTGT
GTTAAGGTGATTTGTGAAACAGTTGCTGTGAACTTTCATGTCACCTACATATGCTGATCTTTTAAAATCATGATCCTTGTGTTCAGCTCT
TTCCAAATTAAAACAAATATACATTTTCTAAATAAAAATATGTAATTTCAAAATACATTTGTAAGTGTAAAAAATGTCTCATGTCAATGA
CCATTCAATTAGTGGTCATAAAATAGAATAATTCTTTTCTGAGGATAGTAGTTAAATAACTGTGTGGCAGTTAATTGGATGTTCACTGCC
AGTTGTCTTATGTGAAAAATTAACTTTTTTGTGGCAATTAGTGTGACAGTTTCCAAATTGCCCTATGCTGTGCTCCATATTTGATTTCTA
ATTGTAAGTGAAATTAAGCATTTTGAAACAAAGTACTCTTTAACATACAAGAAAATGTATCCAAGGAAACATTTTATCATTAAAAATTAC
CTTTAATTTTAATGCTGTTTCTAAGAAAATGTAGTTAGCTCCATAAAGTACAAATGAAGAAAGTCAAAAAATTATTTGCTATGGCAGGAT
AAGAAAGCCTAAAATTGAGTTTGTAGAACTTTATTAAGTAAAATCCCCTTCGCTGAAATTGCTTATTTTTGGTGTTGGATAGAGGATAGG
GAGAATATTTACTAACTAAATACCATTCACTACTCATGCGTGAGATGGGTGTACAAACTCATCCTCTTTTAATGGCATTTCTCTTTAAAC
TATGTTCCTAACAAAATGAGATGATAGGATAGATCCTGGTTACCACTCTTTTGCTGTGCACATACGGGCTCTGACTGGTTTTAATAGTCA
CCTTCATGATTATAGCAACTAATGTTTGAACAAAGCTCAAAGTATGCAATGCTTCATTATTCAAGAATGAAAAATATAATGTTGATAATA
TATATTAAGTGTGCCAAATCAGTTTGACTACTCTCTGTTTTAGTGTTTATGTTTAAAAGAAATATATTTTTTGTTATTATTAGATAATAT
TTTTGTATTTCTCTATTTTCATAATCAGTAAATAGTGTCATATAAACTCATTTATCTCCTCTTCATGGCATCTTCAATATGAATCTATAA
GTAGTAAATCAGAAAGTAACAATCTATGGCTTATTTCTATGACAAATTCAAGAGCTAGAAAAATAAAATGTTTCATTATGCACTTTTAGA


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FusionGenePPI for SLC6A17_DPYD


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
SLC6A17DPYDCHAC2, GOPC, LXN, APOA1BP, C9orf64, GAPDH, TRNT1, RPE, CLK1


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 SLC6A17_DPYD


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 SLC6A17_DPYD


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneSLC6A17C4225395MENTAL RETARDATION, AUTOSOMAL RECESSIVE 481ORPHANET;UNIPROT
TgeneDPYDC0009404Colorectal Neoplasms5CTD_human
TgeneDPYDC1959620Dihydropyrimidine Dehydrogenase Deficiency4CTD_human;HPO;ORPHANET;UNIPROT
TgeneDPYDC0038356Stomach Neoplasms3CTD_human
TgeneDPYDC0030297Pancreatic Neoplasm2CTD_human
TgeneDPYDC0034139Purine-Pyrimidine Metabolism, Inborn Errors2CTD_human
TgeneDPYDC0036341Schizophrenia2CTD_human
TgeneDPYDC1510586Autism Spectrum Disorders2CTD_human;HPO
TgeneDPYDC0004352Autistic Disorder1CTD_human;HPO
TgeneDPYDC0009375Colonic Neoplasms1CTD_human
TgeneDPYDC0018671Head and Neck Neoplasms1CTD_human
TgeneDPYDC0023014Language Development Disorders1CTD_human
TgeneDPYDC0024121Lung Neoplasms1CTD_human
TgeneDPYDC0027627Neoplasm Metastasis1CTD_human
TgeneDPYDC0027765nervous system disorder1CTD_human
TgeneDPYDC0027947Neutropenia1CTD_human
TgeneDPYDC0028754Obesity1CTD_human;HPO
TgeneDPYDC0031117Peripheral Neuropathy1CTD_human
TgeneDPYDC0270612Leukoencephalopathies1CTD_human
TgeneDPYDC1458155Mammary Neoplasms1CTD_human
TgeneDPYDC2239176Liver carcinoma1CTD_human