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Center for Computational Systems Medicine
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Gene summary

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Gene structures and expression levels

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Exon skipping events with PSIs in TCGA

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Exon skipping events with PSIs in GTEx

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Open reading frame (ORF) annotation in the exon skipping event

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Exon skipping events in the canonical protein sequence

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SNVs in the skipped exons with depth of coverage

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Splicing Quantitative Trait Loci (sQTLs) in the skipped exons

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Splicing Quantitative Trait Methylation (sQTM) in the skipped exon

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Related drugs with this gene

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Related diseases with this gene

Gene summary for SLC25A25

check button Gene summary
Gene informationGene symbol

SLC25A25

Gene ID

114789

Gene namesolute carrier family 25 member 25
SynonymsMCSC|PCSCL|SCAMC-2
Cytomap

9q34.11

Type of geneprotein-coding
Descriptioncalcium-binding mitochondrial carrier protein SCaMC-2mitochondrial ATP-Mg/Pi carrier protein 3mitochondrial Ca(2+)-dependent solute carrier protein 3short calcium-binding mitochondrial carrier 2small calcium-binding mitochondrial carrier 2solute carr
Modification date20180523
UniProtAcc

Q6KCM7

ContextPubMed: SLC25A25 [Title/Abstract] AND exon [Title/Abstract] AND skip [Title/Abstract]
- Title (PMID)

check button Gene ontology of each this gene with evidence of Inferred from Direct Assay (IDA) from Entrez
GeneGO IDGO termPubMed ID

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Exon skipping events across known transcript of Ensembl for SLC25A25 from UCSC genome browser

check buttonSkipped exons in TCGA and GTEx based on Ensembl gene isoform structure.
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.
all structure

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Gene isoform structures and expression levels for SLC25A25

check button Expression levels of gene isoforms across TCGA.
gencode gene structure

check button Expression levels of gene isoforms across GTEx.
gencode gene structure


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Exon skipping events with PSIs in TCGA for SLC25A25

check button Information of exkip skipping event in TCGA.
Exon skip IDchrExons involved in exon skippingSkipped exonENSGENSTs
exon_skip_4994069130860815:130861004:130861553:130861664:130863374:130863501130861553:130861664ENSG00000148339.8ENST00000472769.1
exon_skip_4994099130863587:130863675:130864358:130864394:130864648:130864760130864358:130864394ENSG00000148339.8ENST00000373069.5,ENST00000373066.5
exon_skip_4994109130864648:130864760:130865959:130866118:130868007:130868160130865959:130866118ENSG00000148339.8ENST00000373069.5,ENST00000373064.5,ENST00000373066.5,ENST00000433501.1,ENST00000432073.2,ENST00000373068.2
exon_skip_4994119130866000:130866118:130868007:130868160:130868428:130868536130868007:130868160ENSG00000148339.8ENST00000373069.5,ENST00000373064.5,ENST00000373066.5,ENST00000433501.1,ENST00000432073.2,ENST00000373068.2
exon_skip_4994159130868007:130868160:130868428:130868536:130868631:130868799130868428:130868536ENSG00000148339.8ENST00000373069.5,ENST00000373064.5,ENST00000373066.5,ENST00000433501.1,ENST00000432073.2,ENST00000373068.2

check button PSI values of skipped exons in TCGA.
psi tcga

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Exon skipping events with PSIs in GTEx for SLC25A25

check button Information of exkip skipping event in GTEx
Exon skip IDchrExons involved in exon skippingSkipped exonENSGENSTs
exon_skip_4994069130860815:130861004:130861553:130861664:130863374:130863501130861553:130861664ENSG00000148339.8ENST00000472769.1
exon_skip_4994099130863587:130863675:130864358:130864394:130864648:130864760130864358:130864394ENSG00000148339.8ENST00000373069.5,ENST00000373066.5
exon_skip_4994109130864648:130864760:130865959:130866118:130868007:130868160130865959:130866118ENSG00000148339.8ENST00000373068.2,ENST00000373069.5,ENST00000373066.5,ENST00000432073.2,ENST00000373064.5,ENST00000433501.1
exon_skip_4994119130866000:130866118:130868007:130868160:130868428:130868536130868007:130868160ENSG00000148339.8ENST00000373068.2,ENST00000373069.5,ENST00000373066.5,ENST00000432073.2,ENST00000373064.5,ENST00000433501.1
exon_skip_4994159130868007:130868160:130868428:130868536:130868631:130868799130868428:130868536ENSG00000148339.8ENST00000373068.2,ENST00000373069.5,ENST00000373066.5,ENST00000432073.2,ENST00000373064.5,ENST00000433501.1

check button PSI values of skipped exons in GTEx.
psi gtex

* Skipped exon sequences.

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Open reading frame (ORF) annotation in the exon skipping event for SLC25A25

check button Open reading frame (ORF) of individual exon skipping events in TCGA based on the Ensembl gene structure combined from isoforms.
ENSTStart of skipped exonEnd of skipped exonORF
ENST00000373064130865959130866118In-frame
ENST00000373064130868007130868160In-frame
ENST00000373064130868428130868536In-frame

check button Open reading frame (ORF) of individual exon skipping events in GTEx based on the Ensembl gene structure combined from isoforms.
ENSTStart of skipped exonEnd of skipped exonORF
ENST00000373064130865959130866118In-frame
ENST00000373064130868007130868160In-frame
ENST00000373064130868428130868536In-frame

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Infer the effects of exon skipping event on protein functional features for SLC25A25

check button Exon skipping at the protein sequence level and followed lost functional features.
* Click on the image to enlarge it in a new window.
prot feature distribution

check button Loci of skipped exons in TCGA across genomic, transcript, and protein sequence levels of In-frame cases.
ENSTLength of mRNALength of AA seq.Genomic startGenomic endmRNA startmRNA endAA startAA end
ENST000003730643491469130865959130866118750908162215
ENST0000037306434914691308680071308681609091061215266
ENST00000373064349146913086842813086853610621169266302

check button Loci of skipped exons in GTEx across genomic, transcript, and protein sequence levels of In-frame cases.
ENSTLength of mRNALength of AA seq.Genomic startGenomic endmRNA startmRNA endAA startAA end
ENST000003730643491469130865959130866118750908162215
ENST0000037306434914691308680071308681609091061215266
ENST00000373064349146913086842813086853610621169266302

check button Lost protein functional features of individual exon skipping events in TCGA.
UniProt acc.Start of exon skipping (AA)End of exon skipping (AA)Protein feature start (AA)Protein feature end (AA)Category of protein featureDescription of feature


check button Lost protein functional features of individual exon skipping events in GTEx.
UniProt acc.Start of exon skipping (AA)End of exon skipping (AA)Protein feature start (AA)Protein feature end (AA)Category of protein featureDescription of feature


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SNVs in the skipped exons for SLC25A25

check button - Lollipop plot for presenting exon skipping associated SNVs.
* Click on the image to enlarge it in a new window.
lollipop

check button - Differential PSIs between mutated versus non-mutated samples.
SLC25A25_ESCA_exon_skip_499409_psi_boxplot.png
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SLC25A25_LIHC_exon_skip_499409_psi_boxplot.png
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SLC25A25_PAAD_exon_skip_499410_psi_boxplot.png
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check button - Non-synonymous mutations located in the skipped exons in TCGA.
Cancer typeSampleESIDSkipped exon startSkipped exon endMutation startMutation endMutation typeReference seqMutation seqAAchange
LIHCTCGA-G3-A3CJ-01exon_skip_499409
130864359130864394130864379130864379Frame_Shift_DelG-p.W152fs
LIHCTCGA-DD-A3A0-01exon_skip_499410
130865960130866118130865963130865963Frame_Shift_DelT-p.F196fs
LIHCTCGA-DD-A39Y-01exon_skip_499411
130868008130868160130868074130868074Frame_Shift_DelG-p.G270fs
LIHCTCGA-DD-A3A0-01exon_skip_499411
130868008130868160130868116130868116Frame_Shift_DelA-p.K284fs
PRADTCGA-CH-5769-01exon_skip_499410
130865960130866118130866086130866087Frame_Shift_Ins-Cp.P237fs
LIHCTCGA-BC-A10S-01exon_skip_499415
130868429130868536130868488130868489Frame_Shift_Ins-Gp.V319fs
ESCATCGA-IC-A6RE-01exon_skip_499409
130864359130864394130864363130864363Nonsense_MutationCTp.R147X
ESCATCGA-IC-A6RE-01exon_skip_499409
130864359130864394130864363130864363Nonsense_MutationCTp.R161*
UCECTCGA-BS-A0UJ-01exon_skip_499410
130865960130866118130865958130865958Splice_SiteAGe5-2
PAADTCGA-IB-7651-01exon_skip_499410
130865960130866118130865959130865959Splice_SiteGA.

check button - Depth of coverage in the three exons composing exon skipping event
Depth of coverage in three exonsMutation description
SLC25A25_130864648_130864760_130865959_130866118_130868007_130868160_TCGA-IB-7651-01Sample: TCGA-IB-7651-01
Cancer type: PAAD
ESID: exon_skip_499410
Skipped exon start: 130865960
Skipped exon end: 130866118
Mutation start: 130865959
Mutation end: 130865959
Mutation type: Splice_Site
Reference seq: G
Mutation seq: A
AAchange: .
exon_skip_113241_PAAD_TCGA-IB-7651-01.png
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SLC25A25_130863587_130863675_130864358_130864394_130864648_130864760_TCGA-IC-A6RE-01Sample: TCGA-IC-A6RE-01
Cancer type: ESCA
ESID: exon_skip_499409
Skipped exon start: 130864359
Skipped exon end: 130864394
Mutation start: 130864363
Mutation end: 130864363
Mutation type: Nonsense_Mutation
Reference seq: C
Mutation seq: T
AAchange: p.R147X
SLC25A25_130863587_130863675_130864358_130864394_130864648_130864760_TCGA-IC-A6RE-01Sample: TCGA-IC-A6RE-01
Cancer type: ESCA
ESID: exon_skip_499409
Skipped exon start: 130864359
Skipped exon end: 130864394
Mutation start: 130864363
Mutation end: 130864363
Mutation type: Nonsense_Mutation
Reference seq: C
Mutation seq: T
AAchange: p.R161*
exon_skip_379913_ESCA_TCGA-IC-A6RE-01.png
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exon_skip_499409_ESCA_TCGA-IC-A6RE-01.png
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exon_skip_68768_ESCA_TCGA-IC-A6RE-01.png
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exon_skip_80515_ESCA_TCGA-IC-A6RE-01.png
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SLC25A25_130863587_130863675_130864358_130864394_130864648_130864760_TCGA-G3-A3CJ-01Sample: TCGA-G3-A3CJ-01
Cancer type: LIHC
ESID: exon_skip_499409
Skipped exon start: 130864359
Skipped exon end: 130864394
Mutation start: 130864379
Mutation end: 130864379
Mutation type: Frame_Shift_Del
Reference seq: G
Mutation seq: -
AAchange: p.W152fs
exon_skip_101516_LIHC_TCGA-G3-A3CJ-01.png
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check button - Non-synonymous mutations located in the skipped exons in CCLE.
SampleSkipped exon startSkipped exon endMutation startMutation endMutation typeReference seqMutation seqAAchange
PECAPJ34CLONEC12_UPPER_AERODIGESTIVE_TRACT130865960130866118130866093130866094Frame_Shift_DelTG-p.L207fs
EN_ENDOMETRIUM130865960130866118130866086130866087Frame_Shift_Ins-Cp.A205fs
SNU1040_LARGE_INTESTINE130868008130868160130868014130868014Missense_MutationGAp.A218T
MCC26_SKIN130868008130868160130868093130868093Missense_MutationGAp.R244Q
MFE319_ENDOMETRIUM130868008130868160130868128130868128Missense_MutationGAp.E256K
HT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE130868008130868160130868152130868152Missense_MutationTCp.Y264H
HCT15_LARGE_INTESTINE130868429130868536130868505130868505Missense_MutationCAp.A292D
CHP134_AUTONOMIC_GANGLIA130868429130868536130868518130868518Missense_MutationCAp.S296R

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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for SLC25A25

check button sQTL information located at the skipped exons.
Exon skip IDChromosomeThree exonsSkippped exonENSTCancer typeSNP idLocationDNA change (ref/var)P-value

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Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for SLC25A25


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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for SLC25A25


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RelatedDrugs for SLC25A25

check button Approved drugs targeting this gene.
(DrugBank Version 5.1.0 2018-04-02)
GeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status

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RelatedDiseases for SLC25A25

check button Diseases associated with this gene.
(DisGeNet 4.0)
GeneDisease IDDisease name# pubmedsSource