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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: 27699

FusionGeneSummary for PLOD3_SLC9A1

check button Fusion gene summary
Fusion gene informationFusion gene name: PLOD3_SLC9A1
Fusion gene ID: 27699
HgeneTgene
Gene symbol

PLOD3

SLC9A1

Gene ID

8985

6548

Gene nameprocollagen-lysine,2-oxoglutarate 5-dioxygenase 3solute carrier family 9 member A1
SynonymsLH3APNH|LIKNS|NHE-1|NHE1|PPP1R143
Cytomap

7q22.1

1p36.11

Type of geneprotein-codingprotein-coding
Descriptionprocollagen-lysine,2-oxoglutarate 5-dioxygenase 3lysine hydroxylase 3lysyl hydroxlase 3lysyl hydroxylase 3sodium/hydrogen exchanger 1Na(+)/H(+) exchanger 1Na-Li countertransporterprotein phosphatase 1, regulatory subunit 143solute carrier family 9 (sodium/hydrogen exchanger), isoform 1 (antiporter, Na+/H+, amiloride sensitive)solute carrier family 9 (sod
Modification date2018052320180527
UniProtAcc

O60568

P19634

Ensembl transtripts involved in fusion geneENST00000223127, ENST00000263980, 
ENST00000490329, ENST00000545949, 
ENST00000374086, 
Fusion gene scores* DoF score4 X 5 X 1=204 X 5 X 3=60
# samples 65
** MAII scorelog2(6/20*10)=1.58496250072116
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
log2(5/60*10)=-0.263034405833794
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: PLOD3 [Title/Abstract] AND SLC9A1 [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
HgenePLOD3

GO:0017185

peptidyl-lysine hydroxylation

9582318|9724729

HgenePLOD3

GO:0046947

hydroxylysine biosynthetic process

9582318|9724729

TgeneSLC9A1

GO:0006883

cellular sodium ion homeostasis

24840010

TgeneSLC9A1

GO:0006885

regulation of pH

8901634

TgeneSLC9A1

GO:0010447

response to acidic pH

8901634

TgeneSLC9A1

GO:0045944

positive regulation of transcription by RNA polymerase II

22688515

TgeneSLC9A1

GO:0051453

regulation of intracellular pH

15035633|24840010

TgeneSLC9A1

GO:0070886

positive regulation of calcineurin-NFAT signaling cascade

22688515

TgeneSLC9A1

GO:0071468

cellular response to acidic pH

24840010

TgeneSLC9A1

GO:0098719

sodium ion import across plasma membrane

24840010

TgeneSLC9A1

GO:1902600

proton transmembrane transport

24840010


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
ChiTaRS3.1BQ369217PLOD3chr7

100853705

-SLC9A1chr1

27436212

-
ChiTaRS3.1BQ369038PLOD3chr7

100853705

-SLC9A1chr1

27436212

-
* 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-3CDSENST00000223127ENST00000263980PLOD3chr7

100853705

-SLC9A1chr1

27436212

-
intron-intronENST00000223127ENST00000490329PLOD3chr7

100853705

-SLC9A1chr1

27436212

-
intron-5UTRENST00000223127ENST00000545949PLOD3chr7

100853705

-SLC9A1chr1

27436212

-
intron-5UTRENST00000223127ENST00000374086PLOD3chr7

100853705

-SLC9A1chr1

27436212

-

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FusionProtFeatures for PLOD3_SLC9A1


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
PLOD3

O60568

SLC9A1

P19634

Forms hydroxylysine residues in -Xaa-Lys-Gly- sequencesin collagens. These hydroxylysines serve as sites of attachmentfor carbohydrate units and are essential for the stability of theintermolecular collagen cross-links.{ECO:0000250|UniProtKB:P24802}. Involved in pH regulation to eliminate acids generatedby active metabolism or to counter adverse environmentalconditions. Major proton extruding system driven by the inwardsodium ion chemical gradient. Plays an important role in signaltransduction. {ECO:0000269|PubMed:11350981,ECO:0000269|PubMed:15035633, ECO:0000269|PubMed:8901634}.

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 PLOD3_SLC9A1


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 PLOD3_SLC9A1


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


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 PLOD3_SLC9A1


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.0 2018-04-02)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status
HgenePLOD3O60568DB00126Vitamin CProcollagen-lysine,2-oxoglutarate 5-dioxygenase 3small moleculeapproved|nutraceutical
TgeneSLC9A1P19634DB00594AmilorideSodium/hydrogen exchanger 1small moleculeapproved

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RelatedDiseases for PLOD3_SLC9A1


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgenePLOD3C2676285Bone Fragility with Contractures, Arterial Rupture, and Deafness1CTD_human;ORPHANET;UNIPROT
TgeneSLC9A1C0004763Barrett Esophagus1CTD_human
TgeneSLC9A1C0007194Hypertrophic Cardiomyopathy1CTD_human
TgeneSLC9A1C0011853Diabetes Mellitus, Experimental1CTD_human
TgeneSLC9A1C0013604Edema1CTD_human
TgeneSLC9A1C0018801Heart failure1CTD_human
TgeneSLC9A1C0030193Pain1CTD_human
TgeneSLC9A1C0035126Reperfusion Injury1CTD_human
TgeneSLC9A1C0036982Shock, Hemorrhagic1CTD_human
TgeneSLC9A1C4225383LICHTENSTEIN-KNORR SYNDROME1ORPHANET;UNIPROT