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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: 34467

FusionGeneSummary for SLC39A8_PPA1

check button Fusion gene summary
Fusion gene informationFusion gene name: SLC39A8_PPA1
Fusion gene ID: 34467
HgeneTgene
Gene symbol

SLC39A8

PPA1

Gene ID

64116

5464

Gene namesolute carrier family 39 member 8pyrophosphatase (inorganic) 1
SynonymsBIGM103|CDG2N|LZT-Hs6|PP3105|ZIP8HEL-S-66p|IOPPP|PP|PP1|SID6-8061
Cytomap

4q24

10q22.1

Type of geneprotein-codingprotein-coding
Descriptionzinc transporter ZIP8BCG induced integral membrane protein BIGM103BCG-induced integral membrane protein in monocyte clone 103 proteinLIV-1 subfamily of ZIP zinc transporter 6ZIP-8Zrt- and Irt-like protein 8solute carrier family 39 (metal ion transpoinorganic pyrophosphatasePPasecytosolic inorganic pyrophosphatasediphosphate phosphohydrolaseepididymis secretory sperm binding protein Li 66pinorganic diphosphatase 1inorganic pyrophosphatase 1pyrophosphatase 1pyrophosphate phospho-hydrolase
Modification date2018052320180523
UniProtAcc

Q9C0K1

Q15181

Ensembl transtripts involved in fusion geneENST00000424970, ENST00000394833, 
ENST00000356736, ENST00000510255, 
ENST00000373232, ENST00000608321, 
ENST00000495346, 
Fusion gene scores* DoF score3 X 3 X 3=271 X 1 X 1=1
# samples 31
** MAII scorelog2(3/27*10)=0.15200309344505
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
log2(1/1*10)=3.32192809488736
Context

PubMed: SLC39A8 [Title/Abstract] AND PPA1 [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
TCGALDCOADTCGA-A6-3809-01ASLC39A8chr4

103228593

-PPA1chr10

71969441

-
* 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-frameENST00000424970ENST00000373232SLC39A8chr4

103228593

-PPA1chr10

71969441

-
5CDS-intronENST00000424970ENST00000608321SLC39A8chr4

103228593

-PPA1chr10

71969441

-
5CDS-intronENST00000424970ENST00000495346SLC39A8chr4

103228593

-PPA1chr10

71969441

-
Frame-shiftENST00000394833ENST00000373232SLC39A8chr4

103228593

-PPA1chr10

71969441

-
5CDS-intronENST00000394833ENST00000608321SLC39A8chr4

103228593

-PPA1chr10

71969441

-
5CDS-intronENST00000394833ENST00000495346SLC39A8chr4

103228593

-PPA1chr10

71969441

-
Frame-shiftENST00000356736ENST00000373232SLC39A8chr4

103228593

-PPA1chr10

71969441

-
5CDS-intronENST00000356736ENST00000608321SLC39A8chr4

103228593

-PPA1chr10

71969441

-
5CDS-intronENST00000356736ENST00000495346SLC39A8chr4

103228593

-PPA1chr10

71969441

-
5UTR-3CDSENST00000510255ENST00000373232SLC39A8chr4

103228593

-PPA1chr10

71969441

-
5UTR-intronENST00000510255ENST00000608321SLC39A8chr4

103228593

-PPA1chr10

71969441

-
5UTR-intronENST00000510255ENST00000495346SLC39A8chr4

103228593

-PPA1chr10

71969441

-

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FusionProtFeatures for SLC39A8_PPA1


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
SLC39A8

Q9C0K1

PPA1

Q15181

Acts as a manganese and zinc influx transporter(PubMed:12504855, PubMed:26637978). Plays a role in manganesereabsorption in the proximal tubule of the kidney and in manganeseuptake into the brain (PubMed:26637978).{ECO:0000269|PubMed:12504855, ECO:0000305|PubMed:26637978}.

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
HgeneSLC39A8chr4:103228593chr10:71969441ENST00000356736-49154_160184461Topological domainExtracellular
HgeneSLC39A8chr4:103228593chr10:71969441ENST00000356736-491_8184461Topological domainExtracellular
HgeneSLC39A8chr4:103228593chr10:71969441ENST00000356736-4930_132184461Topological domainCytoplasmic
HgeneSLC39A8chr4:103228593chr10:71969441ENST00000394833-38154_160184461Topological domainExtracellular
HgeneSLC39A8chr4:103228593chr10:71969441ENST00000394833-381_8184461Topological domainExtracellular
HgeneSLC39A8chr4:103228593chr10:71969441ENST00000394833-3830_132184461Topological domainCytoplasmic
HgeneSLC39A8chr4:103228593chr10:71969441ENST00000424970-411154_160184445Topological domainExtracellular
HgeneSLC39A8chr4:103228593chr10:71969441ENST00000424970-4111_8184445Topological domainExtracellular
HgeneSLC39A8chr4:103228593chr10:71969441ENST00000424970-41130_132184445Topological domainCytoplasmic
HgeneSLC39A8chr4:103228593chr10:71969441ENST00000356736-49133_153184461TransmembraneHelical
HgeneSLC39A8chr4:103228593chr10:71969441ENST00000356736-49161_181184461TransmembraneHelical
HgeneSLC39A8chr4:103228593chr10:71969441ENST00000356736-499_29184461TransmembraneHelical
HgeneSLC39A8chr4:103228593chr10:71969441ENST00000394833-38133_153184461TransmembraneHelical
HgeneSLC39A8chr4:103228593chr10:71969441ENST00000394833-38161_181184461TransmembraneHelical
HgeneSLC39A8chr4:103228593chr10:71969441ENST00000394833-389_29184461TransmembraneHelical
HgeneSLC39A8chr4:103228593chr10:71969441ENST00000424970-411133_153184445TransmembraneHelical
HgeneSLC39A8chr4:103228593chr10:71969441ENST00000424970-411161_181184445TransmembraneHelical
HgeneSLC39A8chr4:103228593chr10:71969441ENST00000424970-4119_29184445TransmembraneHelical

- In-frame and not-retained protein feature among the 13 regional features.
>>>>>>>>>>>>>>>>>>>>>>>>>>>>>>>>>>>>
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgeneSLC39A8chr4:103228593chr10:71969441ENST00000356736-49343_348184461MotifNote=XEXPHE-motif
HgeneSLC39A8chr4:103228593chr10:71969441ENST00000394833-38343_348184461MotifNote=XEXPHE-motif
HgeneSLC39A8chr4:103228593chr10:71969441ENST00000424970-411343_348184445MotifNote=XEXPHE-motif
HgeneSLC39A8chr4:103228593chr10:71969441ENST00000356736-49182_191184461Topological domainCytoplasmic
HgeneSLC39A8chr4:103228593chr10:71969441ENST00000356736-49213_302184461Topological domainExtracellular
HgeneSLC39A8chr4:103228593chr10:71969441ENST00000356736-49324_365184461Topological domainCytoplasmic
HgeneSLC39A8chr4:103228593chr10:71969441ENST00000356736-49387_388184461Topological domainExtracellular
HgeneSLC39A8chr4:103228593chr10:71969441ENST00000356736-49410_429184461Topological domainCytoplasmic
HgeneSLC39A8chr4:103228593chr10:71969441ENST00000356736-49451_460184461Topological domainExtracellular
HgeneSLC39A8chr4:103228593chr10:71969441ENST00000394833-38182_191184461Topological domainCytoplasmic
HgeneSLC39A8chr4:103228593chr10:71969441ENST00000394833-38213_302184461Topological domainExtracellular
HgeneSLC39A8chr4:103228593chr10:71969441ENST00000394833-38324_365184461Topological domainCytoplasmic
HgeneSLC39A8chr4:103228593chr10:71969441ENST00000394833-38387_388184461Topological domainExtracellular
HgeneSLC39A8chr4:103228593chr10:71969441ENST00000394833-38410_429184461Topological domainCytoplasmic
HgeneSLC39A8chr4:103228593chr10:71969441ENST00000394833-38451_460184461Topological domainExtracellular
HgeneSLC39A8chr4:103228593chr10:71969441ENST00000424970-411182_191184445Topological domainCytoplasmic
HgeneSLC39A8chr4:103228593chr10:71969441ENST00000424970-411213_302184445Topological domainExtracellular
HgeneSLC39A8chr4:103228593chr10:71969441ENST00000424970-411324_365184445Topological domainCytoplasmic
HgeneSLC39A8chr4:103228593chr10:71969441ENST00000424970-411387_388184445Topological domainExtracellular
HgeneSLC39A8chr4:103228593chr10:71969441ENST00000424970-411410_429184445Topological domainCytoplasmic
HgeneSLC39A8chr4:103228593chr10:71969441ENST00000424970-411451_460184445Topological domainExtracellular
HgeneSLC39A8chr4:103228593chr10:71969441ENST00000356736-49192_212184461TransmembraneHelical
HgeneSLC39A8chr4:103228593chr10:71969441ENST00000356736-49303_323184461TransmembraneHelical
HgeneSLC39A8chr4:103228593chr10:71969441ENST00000356736-49366_386184461TransmembraneHelical
HgeneSLC39A8chr4:103228593chr10:71969441ENST00000356736-49389_409184461TransmembraneHelical
HgeneSLC39A8chr4:103228593chr10:71969441ENST00000356736-49430_450184461TransmembraneHelical
HgeneSLC39A8chr4:103228593chr10:71969441ENST00000394833-38192_212184461TransmembraneHelical
HgeneSLC39A8chr4:103228593chr10:71969441ENST00000394833-38303_323184461TransmembraneHelical
HgeneSLC39A8chr4:103228593chr10:71969441ENST00000394833-38366_386184461TransmembraneHelical
HgeneSLC39A8chr4:103228593chr10:71969441ENST00000394833-38389_409184461TransmembraneHelical
HgeneSLC39A8chr4:103228593chr10:71969441ENST00000394833-38430_450184461TransmembraneHelical
HgeneSLC39A8chr4:103228593chr10:71969441ENST00000424970-411192_212184445TransmembraneHelical
HgeneSLC39A8chr4:103228593chr10:71969441ENST00000424970-411303_323184445TransmembraneHelical
HgeneSLC39A8chr4:103228593chr10:71969441ENST00000424970-411366_386184445TransmembraneHelical
HgeneSLC39A8chr4:103228593chr10:71969441ENST00000424970-411389_409184445TransmembraneHelical
HgeneSLC39A8chr4:103228593chr10:71969441ENST00000424970-411430_450184445TransmembraneHelical


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FusionGeneSequence for SLC39A8_PPA1


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_SLC39A8_ENST00000424970_chr4_103228593_-_PPA1_ENST00000373232_chr10_71969441_-_303aa
MAPGRAVAGLLLLAAAGLGGVAEGPGLAFSEDVLSVFGANLSLSAAQLQHLLEQMGAASRVGVPEPGQLHFNQCLTAEEIFSLHGFSNAT
QITSSKFSVICPAVLQQLNFHPCEDRPKHKTRPSHSEVWGYGFLSVTIINLASLLGLILTPLIKKSYFPKILTFFVGLAIGTLFSNAIFQ
LIPEISMMSNGXNLATXKLLWTGLEGIRFLMENQKMSLRLMQNLKIRTLPLILLKALMTIGKHXXLRKRMEKESVAXIQLCLRAPSSVIL


* Fusion transcript sequences (only coding sequence (CDS) region).
>In-frame_SLC39A8_ENST00000424970_chr4_103228593_-_PPA1_ENST00000373232_chr10_71969441_-_911nt
ATGGCCCCGGGTCGCGCGGTGGCCGGGCTCCTGTTGCTGGCGGCCGCCGGCCTCGGAGGAGTGGCGGAGGGGCCAGGGCTAGCCTTCAGC
GAGGATGTGCTGAGCGTGTTCGGCGCGAATCTGAGCCTGTCGGCGGCGCAGCTCCAGCACTTGCTGGAGCAGATGGGAGCCGCCTCCCGC
GTGGGCGTCCCGGAGCCTGGCCAGCTGCACTTCAACCAGTGTTTAACTGCTGAAGAGATCTTTTCCCTTCATGGCTTTTCAAATGCTACC
CAAATAACCAGCTCCAAATTCTCTGTCATCTGTCCAGCAGTCTTACAGCAATTGAACTTTCACCCATGTGAGGATCGGCCCAAGCACAAA
ACAAGACCAAGTCATTCAGAAGTTTGGGGATATGGATTCCTGTCAGTGACGATTATTAATCTGGCATCTCTCCTCGGATTGATTTTGACT
CCACTGATAAAGAAATCTTATTTCCCAAAGATTTTGACCTTTTTTGTGGGGCTGGCTATTGGGACTCTTTTTTCAAATGCAATTTTCCAA
CTTATTCCAGAGATATCAATGATGTCAAACGGCTGAAACCTGGCTACTTAGAAGCTACTGTGGACTGGTTTAGAAGGTATAAGGTTCCTG
ATGGAAAACCAGAAAATGAGTTTGCGTTTAATGCAGAATTTAAAGATAAGGACTTTGCCATTGATATTATTAAAAGCACTCATGACCATT
GGAAAGCATTAGTGACTAAGAAAACGAATGGAAAAGGAATCAGTTGCATGAATACAACTTTGTCTGAGAGCCCCTTCAAGTGTGATCCTG
ATGCTGCCAGAGCCATTGTGGATGCTTTACCACCACCCTGTGAATCTGCCTGCACAGTACCAACAGACGTGGATAAGTGGTTCCATCACC


* Fusion transcript sequences (Full-length transcript).
>In-frame_SLC39A8_ENST00000424970_chr4_103228593_-_PPA1_ENST00000373232_chr10_71969441_-_1552nt
ACTTCTAAGTTTGCGGCGGAGAGAATAAAGCAGAAAGACAGGAAGAGGAGGTGGAGTTCTACAGCTCTCCAGGAGGCCGGGGGGCCCACT
CCGCCTATCGCTCCCCTCGGCTACGCTGCCACTTCAATGCCCCGCAGGTCGCGAGCTGCTGTTCTTTCGAAGGCGTCGGAGAACCAGGGG
CGTCCCGCGCCACCTCTGACTCGGAGCAGCGCCGAGCACTGACGCTCCCGCCCTTGGGCAAGGACGCCAGTGCGCCCGCGCGCGTCCCTC
TGCGCGGCAGCCCGTCGCGGGCCCTCAAGGGGAAGCCCAGGCCAGGATGGCCCCGGGTCGCGCGGTGGCCGGGCTCCTGTTGCTGGCGGC
CGCCGGCCTCGGAGGAGTGGCGGAGGGGCCAGGGCTAGCCTTCAGCGAGGATGTGCTGAGCGTGTTCGGCGCGAATCTGAGCCTGTCGGC
GGCGCAGCTCCAGCACTTGCTGGAGCAGATGGGAGCCGCCTCCCGCGTGGGCGTCCCGGAGCCTGGCCAGCTGCACTTCAACCAGTGTTT
AACTGCTGAAGAGATCTTTTCCCTTCATGGCTTTTCAAATGCTACCCAAATAACCAGCTCCAAATTCTCTGTCATCTGTCCAGCAGTCTT
ACAGCAATTGAACTTTCACCCATGTGAGGATCGGCCCAAGCACAAAACAAGACCAAGTCATTCAGAAGTTTGGGGATATGGATTCCTGTC
AGTGACGATTATTAATCTGGCATCTCTCCTCGGATTGATTTTGACTCCACTGATAAAGAAATCTTATTTCCCAAAGATTTTGACCTTTTT
TGTGGGGCTGGCTATTGGGACTCTTTTTTCAAATGCAATTTTCCAACTTATTCCAGAGATATCAATGATGTCAAACGGCTGAAACCTGGC
TACTTAGAAGCTACTGTGGACTGGTTTAGAAGGTATAAGGTTCCTGATGGAAAACCAGAAAATGAGTTTGCGTTTAATGCAGAATTTAAA
GATAAGGACTTTGCCATTGATATTATTAAAAGCACTCATGACCATTGGAAAGCATTAGTGACTAAGAAAACGAATGGAAAAGGAATCAGT
TGCATGAATACAACTTTGTCTGAGAGCCCCTTCAAGTGTGATCCTGATGCTGCCAGAGCCATTGTGGATGCTTTACCACCACCCTGTGAA
TCTGCCTGCACAGTACCAACAGACGTGGATAAGTGGTTCCATCACCAGAAAAACTAATGAGATTTCTCTGGAATACAAGCTGATATTGCT
ACATCGTGTTCATCTGGATGTATTAGAAGTAAAAGTAGTAGCTTTTCAAAGCTTTAAATTTGTAGAACTCATCTAACTAAAGTAAATTCT
GCTGTGACTAATCCAATATACTCAGAATGTTATCCATCTAAAGCATTTTTCATATCTCAACTAAGATAACTTTTAGCACATGCTTAAATA
TCAAAGCAGTTGTCATTTGGAAGTCACTTGTGAATAGATGTGCAAGGGGAGCACATATTGGATGTATATGTTACCATATGTTAGGAAATA


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FusionGenePPI for SLC39A8_PPA1


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
SLC39A8TAOK2, GPD2, RMDN2, SLC9A6, LEMD2, C1GALT1C1, C1orf43, ERGIC2, ZDHHC17, EXTL2, VAPB, EDA, ST7L, SGPP1, MGAT5, HMOX1, SPPL3, STX4, SLC22A18, ERGIC3, TMEM179B, TMPPE, VANGL2, TMX2, SLC4A2, GP1BB, TRIM25PPA1HSPB1, SETDB1, TP53, UNC119, MTRNR2L1, CLNS1A, CFL2, HSPD1, FN1, NPM1, FBXO6, C11orf54, DDAH2, DUT, ITPA, AIP, FKBP7, GLO1, MYO1E, NAV1, PABPC4, PLIN3, RDX, TLE3, PRDX2, STIP1, NTRK1, MED20, LCA5, OTUB1, CDC73, DUSP13, UBC, HPRT1, NANS, UBE2N, GPI, ANXA5, PA2G4, PLS3, DLD, SOD1, MCPH1, BRCA1


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 SLC39A8_PPA1


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 SLC39A8_PPA1


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneSLC39A8C0023893Liver Cirrhosis, Experimental1CTD_human
HgeneSLC39A8C4225234CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIn1ORPHANET;UNIPROT