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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: 15085

FusionGeneSummary for GOLPH3_SLC6A19

check button Fusion gene summary
Fusion gene informationFusion gene name: GOLPH3_SLC6A19
Fusion gene ID: 15085
HgeneTgene
Gene symbol

GOLPH3

SLC6A19

Gene ID

64083

340024

Gene namegolgi phosphoprotein 3solute carrier family 6 member 19
SynonymsGOPP1|GPP34|MIDAS|Vps74B0AT1|HND
Cytomap

5p13.3

5p15.33

Type of geneprotein-codingprotein-coding
DescriptionGolgi phosphoprotein 3coat protein GPP34coat-proteingolgi peripheral membrane protein 1, 34 kDagolgi proteingolgi-associated proteinmitochondrial DNA absence factorsodium-dependent neutral amino acid transporter B(0)AT1sodium-dependent amino acid transporter system B0solute carrier family 6 (neurotransmitter transporter), member 19solute carrier family 6 (neutral amino acid transporter), member 19system B(0) neu
Modification date2018052320180523
UniProtAcc

Q9H4A6

Q695T7

Ensembl transtripts involved in fusion geneENST00000265070, ENST00000512668, 
ENST00000304460, 
Fusion gene scores* DoF score5 X 4 X 4=805 X 3 X 5=75
# samples 55
** MAII scorelog2(5/80*10)=-0.678071905112638
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(5/75*10)=-0.584962500721156
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: GOLPH3 [Title/Abstract] AND SLC6A19 [Title/Abstract] AND fusion [Title/Abstract]

Functional or gene categories assigned by FusionGDB annotationOncogene involved fusion gene, in-frame and retained their domain.
* 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
HgeneGOLPH3

GO:0010821

regulation of mitochondrion organization

16263763


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
TCGARVPRADTCGA-EJ-5496-01AGOLPH3chr5

32173916

-SLC6A19chr5

1219018

+
* 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-frameENST00000265070ENST00000304460GOLPH3chr5

32173916

-SLC6A19chr5

1219018

+
5UTR-3CDSENST00000512668ENST00000304460GOLPH3chr5

32173916

-SLC6A19chr5

1219018

+

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FusionProtFeatures for GOLPH3_SLC6A19


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
GOLPH3

Q9H4A6

SLC6A19

Q695T7

Phosphatidylinositol-4-phosphate-binding protein thatlinks Golgi membranes to the cytoskeleton and may participate inthe tensile force required for vesicle budding from the Golgi.Thereby, may play a role in Golgi membrane trafficking and couldindirectly give its flattened shape to the Golgi apparatus. Mayalso bind to the coatomer to regulate Golgi membrane trafficking.May play a role in anterograde transport from the Golgi to theplasma membrane and regulate secretion. Has also been involved inthe control of the localization of Golgi enzymes throughinteraction with their cytoplasmic part. May play an indirect rolein cell migration. Has also been involved in the modulation ofmTOR signaling. May also be involved in the regulation ofmitochondrial lipids biosynthesis. {ECO:0000269|PubMed:16263763,ECO:0000269|PubMed:19553991, ECO:0000269|PubMed:19837035,ECO:0000269|PubMed:22745132, ECO:0000269|PubMed:23027862,ECO:0000269|PubMed:23345592, ECO:0000269|PubMed:23500462}. Transporter that mediates resorption of neutral aminoacids across the apical membrane of renal and intestinalepithelial cells. This uptake is sodium-dependent and chloride-independent. {ECO:0000269|PubMed:15286788}.

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
HgeneGOLPH3chr5:32173916chr5:1219018ENST00000265070-1448_5175299Compositional biasNote=Poly-Asp
TgeneSLC6A19chr5:32173916chr5:1219018ENST00000304460+712435_456391635Topological domainCytoplasmic
TgeneSLC6A19chr5:32173916chr5:1219018ENST00000304460+712478_490391635Topological domainExtracellular
TgeneSLC6A19chr5:32173916chr5:1219018ENST00000304460+712512_531391635Topological domainCytoplasmic
TgeneSLC6A19chr5:32173916chr5:1219018ENST00000304460+712553_581391635Topological domainExtracellular
TgeneSLC6A19chr5:32173916chr5:1219018ENST00000304460+712603_634391635Topological domainCytoplasmic
TgeneSLC6A19chr5:32173916chr5:1219018ENST00000304460+712414_434391635TransmembraneHelical%3B Name%3D8
TgeneSLC6A19chr5:32173916chr5:1219018ENST00000304460+712457_477391635TransmembraneHelical%3B Name%3D9
TgeneSLC6A19chr5:32173916chr5:1219018ENST00000304460+712491_511391635TransmembraneHelical%3B Name%3D10
TgeneSLC6A19chr5:32173916chr5:1219018ENST00000304460+712532_552391635TransmembraneHelical%3B Name%3D11
TgeneSLC6A19chr5:32173916chr5:1219018ENST00000304460+712582_602391635TransmembraneHelical%3B Name%3D12

- In-frame and not-retained protein feature among the 13 regional features.
>
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgeneGOLPH3chr5:32173916chr5:1219018ENST00000265070-14190_20175299RegionBeta-hairpin required for oligomerization
TgeneSLC6A19chr5:32173916chr5:1219018ENST00000304460+712142_192391635Topological domainExtracellular
TgeneSLC6A19chr5:32173916chr5:1219018ENST00000304460+7121_41391635Topological domainCytoplasmic
TgeneSLC6A19chr5:32173916chr5:1219018ENST00000304460+712214_221391635Topological domainCytoplasmic
TgeneSLC6A19chr5:32173916chr5:1219018ENST00000304460+712243_268391635Topological domainExtracellular
TgeneSLC6A19chr5:32173916chr5:1219018ENST00000304460+712290_304391635Topological domainCytoplasmic
TgeneSLC6A19chr5:32173916chr5:1219018ENST00000304460+712326_413391635Topological domainExtracellular
TgeneSLC6A19chr5:32173916chr5:1219018ENST00000304460+71263_67391635Topological domainExtracellular
TgeneSLC6A19chr5:32173916chr5:1219018ENST00000304460+71289_120391635Topological domainCytoplasmic
TgeneSLC6A19chr5:32173916chr5:1219018ENST00000304460+712121_141391635TransmembraneHelical%3B Name%3D3
TgeneSLC6A19chr5:32173916chr5:1219018ENST00000304460+712193_213391635TransmembraneHelical%3B Name%3D4
TgeneSLC6A19chr5:32173916chr5:1219018ENST00000304460+712222_242391635TransmembraneHelical%3B Name%3D5
TgeneSLC6A19chr5:32173916chr5:1219018ENST00000304460+712269_289391635TransmembraneHelical%3B Name%3D6
TgeneSLC6A19chr5:32173916chr5:1219018ENST00000304460+712305_325391635TransmembraneHelical%3B Name%3D7
TgeneSLC6A19chr5:32173916chr5:1219018ENST00000304460+71242_62391635TransmembraneHelical%3B Name%3D1
TgeneSLC6A19chr5:32173916chr5:1219018ENST00000304460+71268_88391635TransmembraneHelical%3B Name%3D2


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FusionGeneSequence for GOLPH3_SLC6A19


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_GOLPH3_ENST00000265070_chr5_32173916_-_SLC6A19_ENST00000304460_chr5_1219018_+_319aa
MTSLTQRSSGLVQRRTEASRNAADKERAAGGGAGSSEDDAQSRRDEQDDDDKGDSKETRLTLMEEVLLLGLKDREAVEGTGLAFIVFTEA
ITKMPLSPLWSVLFFIMLFCLGLSSMFGNMEGVVVPLQDLRVIPPKWPKEVLTGLICLGTFLIGFIFTLNSGQYWLSLLDSYAGSIPLLI
IAFCEMFSVVYVYGVDRFNKDIEFMIGHKPNIFWQVTWRVVSPLLMLIIFLFFFVVEVSQELTYSIWDPGYEEFPKSQKISYPNWVYVVV


* Fusion transcript sequences (only coding sequence (CDS) region).
>In-frame_GOLPH3_ENST00000265070_chr5_32173916_-_SLC6A19_ENST00000304460_chr5_1219018_+_957nt
ATGACCTCGCTGACCCAGCGCAGCTCCGGCCTGGTGCAGCGGCGCACCGAGGCCTCCCGCAACGCCGCCGACAAGGAGCGGGCGGCGGGC
GGCGGCGCCGGCAGCAGCGAGGACGACGCGCAGAGCCGCCGCGACGAGCAGGACGACGACGACAAGGGCGACTCCAAGGAAACGCGGCTG
ACCCTGATGGAGGAAGTGCTCCTGCTGGGCCTCAAGGACCGCGAGGCCGTGGAGGGCACAGGCCTGGCCTTCATCGTCTTCACCGAGGCC
ATCACCAAGATGCCGTTGTCCCCACTGTGGTCTGTGCTCTTCTTCATTATGCTCTTCTGCCTGGGGCTGTCATCTATGTTTGGGAACATG
GAGGGCGTCGTTGTGCCCCTGCAGGACCTCAGAGTCATCCCCCCGAAGTGGCCCAAGGAGGTGCTCACAGGCCTCATCTGCCTGGGGACA
TTCCTCATTGGCTTCATCTTCACGCTGAACTCCGGCCAGTACTGGCTCTCCCTGCTGGACAGCTATGCCGGCTCCATTCCCCTGCTCATC
ATCGCCTTCTGCGAGATGTTCTCTGTGGTCTACGTGTACGGTGTGGACAGGTTCAATAAGGACATCGAGTTCATGATCGGCCACAAGCCC
AACATCTTCTGGCAAGTCACGTGGCGCGTGGTCAGCCCCCTGCTCATGCTGATCATCTTCCTCTTCTTCTTCGTGGTAGAGGTCAGTCAG
GAGCTGACCTACAGCATCTGGGACCCTGGCTACGAGGAATTTCCCAAATCCCAGAAGATCTCCTACCCGAACTGGGTGTATGTGGTGGTG
GTGATTGTGGCTGGAGTGCCCTCCCTCACCATCCCTGGCTATGCCATCTACAAGCTCATCAGGAACCACTGCCAGAAGCCAGGGGACCAT


* Fusion transcript sequences (Full-length transcript).
>In-frame_GOLPH3_ENST00000265070_chr5_32173916_-_SLC6A19_ENST00000304460_chr5_1219018_+_4486nt
ACATCCTCCGGTGACGTCAGCCGGGGCCGCCATATTGGAAAGGCGCCGCCGCCGCCTCCGCCTTGGAGCTCGGGGTGTTTCGGGGACTGC
GGCCACAGGCAGGAAGGCGCTCCTCTCCTGCCCCGCCGACGCCCGGCCAGCCCGCTTCGCCCTGACCTGTTTCCTCATGACTGCCCCCGG
CCCTGCTGCCGACGGACGTCGCCCCGGCGTCCGGATTTAACACGGAAACCCGGATCGGAGGCCGCGCGGGGAGGAGGAGGGCGACCCGGT
CGGTCCTGCGACCCTCTCGGCCCGGCTCGGCGCCTCGGCGGGAGCCATGACCTCGCTGACCCAGCGCAGCTCCGGCCTGGTGCAGCGGCG
CACCGAGGCCTCCCGCAACGCCGCCGACAAGGAGCGGGCGGCGGGCGGCGGCGCCGGCAGCAGCGAGGACGACGCGCAGAGCCGCCGCGA
CGAGCAGGACGACGACGACAAGGGCGACTCCAAGGAAACGCGGCTGACCCTGATGGAGGAAGTGCTCCTGCTGGGCCTCAAGGACCGCGA
GGCCGTGGAGGGCACAGGCCTGGCCTTCATCGTCTTCACCGAGGCCATCACCAAGATGCCGTTGTCCCCACTGTGGTCTGTGCTCTTCTT
CATTATGCTCTTCTGCCTGGGGCTGTCATCTATGTTTGGGAACATGGAGGGCGTCGTTGTGCCCCTGCAGGACCTCAGAGTCATCCCCCC
GAAGTGGCCCAAGGAGGTGCTCACAGGCCTCATCTGCCTGGGGACATTCCTCATTGGCTTCATCTTCACGCTGAACTCCGGCCAGTACTG
GCTCTCCCTGCTGGACAGCTATGCCGGCTCCATTCCCCTGCTCATCATCGCCTTCTGCGAGATGTTCTCTGTGGTCTACGTGTACGGTGT
GGACAGGTTCAATAAGGACATCGAGTTCATGATCGGCCACAAGCCCAACATCTTCTGGCAAGTCACGTGGCGCGTGGTCAGCCCCCTGCT
CATGCTGATCATCTTCCTCTTCTTCTTCGTGGTAGAGGTCAGTCAGGAGCTGACCTACAGCATCTGGGACCCTGGCTACGAGGAATTTCC
CAAATCCCAGAAGATCTCCTACCCGAACTGGGTGTATGTGGTGGTGGTGATTGTGGCTGGAGTGCCCTCCCTCACCATCCCTGGCTATGC
CATCTACAAGCTCATCAGGAACCACTGCCAGAAGCCAGGGGACCATCAGGGGCTGGTGAGCACACTGTCCACAGCCTCCATGAACGGGGA
CCTGAAGTACTGAGAAGGCCCATCCCACGGCGTGCCATACACTGGTGTCAGGGAAGGAGGAACCAGCAAGACCTGTGGGGTGGGGGCCGG
GCTGCACCTGCATGTGTGTAAGCGTGAGTGTATGCTCGTGTGTGAGTGTGTGTATTGTACACGCATGTGCCATGTGTGCAGATATGTATC
GTGTGTGCATGTACATGCATGGGCACTGTGTGAGTGTGCACGTGTATGCACACATATACATGTGTGTGGGTGTGTGTATTGTATGTGCAT
GTGCCATGTGTGCAGATGTGTCATGTTGTGTGTGTGCATGTACATGTATGGACATTGTGTGAGTGTGCAAGTGTGCATGCATATACATGT
GTGCGATATTTGCTGCCCGTGTGTGTGCATGTATATATAGACATACATGCCTATGTTGTGTGTGGTGTGCATATGTGTGAACACACACGT
GTATACATGCATGCACATGTGCTCGTACAATGGGTGTCCACATGCACGTGTATATGTATATCTGTGAGTGTATATACATGCATGCAATTG
TGTGTATGTGTGTTCTGTGTGTGCGTTTGCAAGTATATATGCACATGTGTATATGTACATGTATGCCTGTGTGACGTGTGTATATGTGAG
CATGTGTACGTGTGTGTATACGTGTGTTGTGTATATGTGTGTGTCTGTACCTGTTTGTGTATATGTGTGTGATGTGTGCTCGTGTGTGTG
CATATTCAGGCAGGTGTGCATTTGTGCATGCCAGTGTGTATGTATGTGCGCATATGGACACGCATGGACACGCATATGGACACATATGGA
CACACATATGGACACGTGTGGATATGTGTGCGTACACGTCGCTGGGACACATGCCTGCCACTCGGGGCCCAGCTGCCCTCTGTGTTTGTC
CTTGCCACAGTCACGGGGTGCATGTGCAGAGGGGAGCAGACCACTGGGGACGTGCTGTGCCCTGCACGTGCCCGGGGGAAGCGGAAGCTG
CAGCTGGGGTGGGGGCAGCACCTCTATGCTTCATCTCTGTGGGTGGCAGGAGACAAAAGCACAGGGTACTATCTTGGCTCCTGGGAGCGA
CTCTTGCTACCCACCCCCACCCATCCCCTTCCCCTTGGTGTTGACCTTTGACCTGGGGGTTCCCAGAGCCCTGTAGCCCTCGACCCGGAG
CAGCCTCTCGGAAGCCGGAGTGGGCAGTTGCTGGCGATTCTGAGAAAACTTGGCCGCATCCACCGGGGCCCTGCCTCCAGTCGGCCGCTG
CCGAGTCTCTGCGTTCTGGCCGCTTCCCGGCTTAATGAATGCCAGCCATTTAATCATTGCTCCTGCCACCACAAATAGATGAGCAGTTAA
ATAAAACTCAACTTGGCATAATTCAAGGCAAATACCACTCTGTGCATTTTCTTAAGAGGACATGAGCTGTGTGAATTTTTAGCCAGCCTT
TGGAAAAGATGGGTTACAGGGTAACTCAACCCTGGCTGCCATCCTTGGGCACTGTGTGTGTCCAGGGCACCTTGGAGGACCGTGCAGCCC
CCAGAAGCTTCCAGCTCCCGCACCACTCAGTGAAGCCCAGCCTGGCGCCTGCCCTGCCCCCGTCACGGGATGGGCCCCCATTGGGGTTCA
ACATTCCATCGCAGCCAAAGGCAGTCGGCACTTGGGACATCTGCTTCCACGGACAGGTCACCTCCGCTTTGCACGGAAGAATCTGGATGC
TTACATTAAACTGGTGTTCTGAGAGTTCCTACGGACAGGTCACCTCCGCTTTGCATGGAAGAATCTGGATGCTTACATTAAACTGGTGTT
CTGAGAGTTCCTACGGACAGGTCACCTCTGCTTTCCATAGAAGAATCTGGACGCTTACATTAAACTGATGTTCTGAGAATTCCTACAGGC
AGGACTGAAAGCCTGGTGTGTGCCAGTATGATGTTCCACCCACAGAAACCTGGTCACAATCGTCCCTTCCAGCACCCCATCCAGCAGTGA
CTGCACACACTGAGTCCCCTACCAGCCCCTTTCACCCTGCTGACTGTCACTGGGCCCTGGGATGCGCAAGACTCCACAGCAGCAGAGGTG
GGGGGACATATCACAGCCTCTGCCCCCGGCTGTGATGCCACCGAGGGGCTCGCCTGCTGATGGCTTCAACAGGGTCTCACCTCATCTTTT
CCTGCTCTTTGGCCCTGGATCGAGAAAATTTCCATCAGTGCCCCATTAATATGCTGCCCTGTGGCATCTGCCCAGGAGGCCCTGCCAGGC
GTGCACAGGTGTGCATTGGTGTACCCTGGCATGCACAGGTGTGCACTGATGTGCCCTGGCATCCATTGGTGTACCCTGGTGTGCCTGCCA
TAGGACCCTGGGCGGGAGCTCCCATCTCATCTACATCTCCTGATTCATGCGTTGTTTCATAGGTTTCAATGTCTCTGTAAATGTGGTAGA
AATGCAGGCTTTATGGGCATAAAGTGTACATTTCTAAATAAATCCCTTCTATTGAGTATGCTCACCCTAGAAGTTACTGTTGTCCAGACG
TAGAGGGATGAGTGAGCCAGTGACCTCAGACGGGATGGTGGGGACGGCAGGTCCAGCTCCTGCCTCCTCCTGGGGGGTCTGGCTTTGGGG
GCTTGCTCCGAAGAGGCCATGGCCCAGGCCTGTGGCCTCACAATGGGGACCAACCAGCTCTTCTCATCTTCTTCCCTCACACTTCCTCTC
ACTCAAATAAGAACCTTCCAAAAATGTGTCCACCTGGGCCCCTGCCCTGGGACTCATGGATTTGGAGTTGTGGCCACACGGTTGAGGGGT
GCAGTGTCCAGTGGAATGGGGCAATTGCGGGCCTGGGGGCCCTTGGCCTGTCCGTGGCGGGAGCATCTGCAAGGAGGAGCCCCAGAGTCC
AGGGAGCACTGTGGGGAGCTCCTTAGAGCTGAACTCACCCGGCGTCAACTCATCAACCCTCCACCCATGGACAGGGGTGCCCCCAGCACA
GGAGAGGACTCAGCCCTCTGCCCCCACGCACGGTGGGTGCCTGTCACCCTGTCCTGCCCAGCGGCCCGAGGGCAGCAGTGGGTGTGAGGG
CAGCCCCCGGCCTCCCAAGAGCAGCTGAGAGGATCCCTGCGGGAATCCGGGCTTCGGGTGCATGCGATCTGATCTGAGTTGTTTCTGACA


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FusionGenePPI for GOLPH3_SLC6A19


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
GOLPH3ELAVL1, ARL6IP1, PNKD, P2RY12, RASSF8, GMPPB, GMPPA, WBSCR16, FAM20B, TSR3, C3orf58, AIMP1, DCUN1D1, RANBP1, PFDN4, PFDN5, RUVBL2, SRM, TIPRL, VBP1, NDUFA4, COQ9, NME4, ADCK3, C15orf48, ACN9, ADCK4, DUSP9, ST3GAL1, AMIGO3, GPRC5C, C5AR2, CHST6, CHSY3, SLC39A5, P2RX1, ENTPD7, P2RY8, TNFRSF8, STEAP1, TRIM25SLC6A19


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 GOLPH3_SLC6A19


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 GOLPH3_SLC6A19


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
TgeneSLC6A19C0018609Hartnup Disease2CTD_human;ORPHANET;UNIPROT