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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 C12orf57

check button Gene summary
Gene informationGene symbol

C12orf57

Gene ID

113246

Gene namechromosome 12 open reading frame 57
SynonymsC10|GRCC10
Cytomap

12p13.31

Type of geneprotein-coding
Descriptionprotein C10gene rich cluster C10likely ortholog of mouse gene rich cluster, C10
Modification date20180519
UniProtAcc

Q99622

ContextPubMed: C12orf57 [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 C12orf57 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 C12orf57

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 C12orf57

check button Information of exkip skipping event in TCGA.
Exon skip IDchrExons involved in exon skippingSkipped exonENSGENSTs
exon_skip_79813127052704:7052825:7053269:7053336:7053638:70536527053269:7053336ENSG00000111678.6ENST00000545581.1
exon_skip_79815127053284:7053336:7053542:7053815:7054933:70550847053542:7053815ENSG00000111678.6ENST00000540506.2
exon_skip_79816127053284:7053336:7053638:7053728:7054933:70550847053638:7053728ENSG00000111678.6ENST00000537087.1
exon_skip_79817127053284:7053336:7053638:7053815:7054933:70550847053638:7053815ENSG00000111678.6ENST00000545581.1,ENST00000229281.5

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

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Exon skipping events with PSIs in GTEx for C12orf57

check button Information of exkip skipping event in GTEx
Exon skip IDchrExons involved in exon skippingSkipped exonENSGENSTs
exon_skip_79813127052704:7052825:7053269:7053336:7053638:70536527053269:7053336ENSG00000111678.6ENST00000545581.1
exon_skip_79815127053284:7053336:7053542:7053815:7054933:70550847053542:7053815ENSG00000111678.6ENST00000540506.2
exon_skip_79816127053284:7053336:7053638:7053728:7054933:70550847053638:7053728ENSG00000111678.6ENST00000537087.1
exon_skip_79817127053284:7053336:7053638:7053815:7054933:70550847053638:7053815ENSG00000111678.6ENST00000545581.1,ENST00000229281.5

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 C12orf57

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
ENST0000022928170536387053815In-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
ENST0000022928170536387053815In-frame

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Infer the effects of exon skipping event on protein functional features for C12orf57

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
ENST00000229281577126705363870538151523281776

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
ENST00000229281577126705363870538151523281776

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
Q9962217762126ChainID=PRO_0000065034;Note=Protein C10
Q9962217765151Natural variantID=VAR_069774;Note=In TEMTYS. L->Q;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:23453665;Dbxref=dbSNP:rs587776955,PMID:23453665


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
Q9962217762126ChainID=PRO_0000065034;Note=Protein C10
Q9962217765151Natural variantID=VAR_069774;Note=In TEMTYS. L->Q;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:23453665;Dbxref=dbSNP:rs587776955,PMID:23453665


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SNVs in the skipped exons for C12orf57

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.
C12orf57_BRCA_exon_skip_79815_psi_boxplot.png
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C12orf57_LIHC_exon_skip_79815_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-DD-A1EG-01exon_skip_79813
7053270705333670533017053301Frame_Shift_DelC-p.T6fs
LIHCTCGA-DD-A1EG-01exon_skip_79815
7053543705381570537197053719Frame_Shift_DelA-p.N45fs
LIHCTCGA-DD-A1EG-01exon_skip_79816
7053639705372870537197053719Frame_Shift_DelA-p.N45fs
LIHCTCGA-DD-A1EG-01exon_skip_79817
7053639705381570537197053719Frame_Shift_DelA-p.N45fs
BRCATCGA-BH-A0B4-01exon_skip_79815
7053543705381570537587053761Frame_Shift_DelGCCA-p.A58fs
BRCATCGA-BH-A0B4-01exon_skip_79817
7053639705381570537587053761Frame_Shift_DelGCCA-p.A58fs
BRCATCGA-BH-A0B4-01exon_skip_79815
7053543705381570537627053763Frame_Shift_Ins-Tp.Q60fs
BRCATCGA-BH-A0B4-01exon_skip_79817
7053639705381570537627053763Frame_Shift_Ins-Tp.Q60fs

check button - Depth of coverage in the three exons composing exon skipping event
Depth of coverage in three exonsMutation description
C12orf57_7053284_7053336_7053542_7053815_7054933_7055084_TCGA-BH-A0B4-01Sample: TCGA-BH-A0B4-01
Cancer type: BRCA
ESID: exon_skip_79817
Skipped exon start: 7053639
Skipped exon end: 7053815
Mutation start: 7053758
Mutation end: 7053761
Mutation type: Frame_Shift_Del
Reference seq: GCCA
Mutation seq: -
AAchange: p.A58fs
C12orf57_7053284_7053336_7053542_7053815_7054933_7055084_TCGA-BH-A0B4-01Sample: TCGA-BH-A0B4-01
Cancer type: BRCA
ESID: exon_skip_79815
Skipped exon start: 7053543
Skipped exon end: 7053815
Mutation start: 7053758
Mutation end: 7053761
Mutation type: Frame_Shift_Del
Reference seq: GCCA
Mutation seq: -
AAchange: p.A58fs
C12orf57_7053284_7053336_7053542_7053815_7054933_7055084_TCGA-BH-A0B4-01Sample: TCGA-BH-A0B4-01
Cancer type: BRCA
ESID: exon_skip_79817
Skipped exon start: 7053639
Skipped exon end: 7053815
Mutation start: 7053762
Mutation end: 7053763
Mutation type: Frame_Shift_Ins
Reference seq: -
Mutation seq: T
AAchange: p.Q60fs
C12orf57_7053284_7053336_7053542_7053815_7054933_7055084_TCGA-BH-A0B4-01Sample: TCGA-BH-A0B4-01
Cancer type: BRCA
ESID: exon_skip_79815
Skipped exon start: 7053543
Skipped exon end: 7053815
Mutation start: 7053762
Mutation end: 7053763
Mutation type: Frame_Shift_Ins
Reference seq: -
Mutation seq: T
AAchange: p.Q60fs
exon_skip_79815_BRCA_TCGA-BH-A0B4-01.png
boxplot
C12orf57_7053284_7053336_7053542_7053815_7054933_7055084_TCGA-DD-A1EG-01Sample: TCGA-DD-A1EG-01
Cancer type: LIHC
ESID: exon_skip_79813
Skipped exon start: 7053270
Skipped exon end: 7053336
Mutation start: 7053301
Mutation end: 7053301
Mutation type: Frame_Shift_Del
Reference seq: C
Mutation seq: -
AAchange: p.T6fs
C12orf57_7053284_7053336_7053542_7053815_7054933_7055084_TCGA-DD-A1EG-01Sample: TCGA-DD-A1EG-01
Cancer type: LIHC
ESID: exon_skip_79817
Skipped exon start: 7053639
Skipped exon end: 7053815
Mutation start: 7053719
Mutation end: 7053719
Mutation type: Frame_Shift_Del
Reference seq: A
Mutation seq: -
AAchange: p.N45fs
C12orf57_7053284_7053336_7053542_7053815_7054933_7055084_TCGA-DD-A1EG-01Sample: TCGA-DD-A1EG-01
Cancer type: LIHC
ESID: exon_skip_79816
Skipped exon start: 7053639
Skipped exon end: 7053728
Mutation start: 7053719
Mutation end: 7053719
Mutation type: Frame_Shift_Del
Reference seq: A
Mutation seq: -
AAchange: p.N45fs
C12orf57_7053284_7053336_7053542_7053815_7054933_7055084_TCGA-DD-A1EG-01Sample: TCGA-DD-A1EG-01
Cancer type: LIHC
ESID: exon_skip_79815
Skipped exon start: 7053543
Skipped exon end: 7053815
Mutation start: 7053719
Mutation end: 7053719
Mutation type: Frame_Shift_Del
Reference seq: A
Mutation seq: -
AAchange: p.N45fs
exon_skip_103075_LIHC_TCGA-DD-A1EG-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
D566MG_CENTRAL_NERVOUS_SYSTEM7053639705381570537207053722In_Frame_DelACG-p.D46del
D566MG_CENTRAL_NERVOUS_SYSTEM7053639705372870537207053722In_Frame_DelACG-p.D46del
D566MG_CENTRAL_NERVOUS_SYSTEM7053543705381570537207053722In_Frame_DelACG-p.D46del
CROAP2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE7053270705333670533177053317Missense_MutationGTp.L11F
MJ_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE7053639705381570536927053692Missense_MutationACp.M36L
MJ_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE7053639705372870536927053692Missense_MutationACp.M36L
MJ_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE7053543705381570536927053692Missense_MutationACp.M36L
TE441T_SOFT_TISSUE7053639705381570537557053755Missense_MutationGAp.V57M
TE441T_SOFT_TISSUE7053543705381570537557053755Missense_MutationGAp.V57M

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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for C12orf57

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 C12orf57


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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for C12orf57


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RelatedDrugs for C12orf57

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 C12orf57

check button Diseases associated with this gene.
(DisGeNet 4.0)
GeneDisease IDDisease name# pubmedsSource
C12orf57C1857512Temtamy syndrome1ORPHANET;UNIPROT
C12orf57C3714756Intellectual Disability1CTD_human