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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 C19orf57

check button Gene summary
Gene informationGene symbol

C19orf57

Gene ID

79173

Gene namechromosome 19 open reading frame 57
Synonyms-
Cytomap

19p13.12

Type of geneprotein-coding
Descriptionuncharacterized protein C19orf57pre-T/NK cell associated protein (3B3)
Modification date20180522
UniProtAcc

Q0VDD7

ContextPubMed: C19orf57 [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 C19orf57 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 C19orf57

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 C19orf57

check button Information of exkip skipping event in TCGA.
Exon skip IDchrExons involved in exon skippingSkipped exonENSGENSTs
exon_skip_3156221913993413:13993765:13994120:13994213:13996773:1399686813994120:13994213ENSG00000132016.7ENST00000591586.1,ENST00000454313.1,ENST00000586783.1
exon_skip_3156281913996773:13996868:14000000:14001275:14003598:1400370314000000:14001275ENSG00000132016.7ENST00000346736.2,ENST00000454313.1,ENST00000586783.1
exon_skip_3156291914003598:14003703:14003954:14004036:14006184:1400635914003954:14004036ENSG00000132016.7ENST00000346736.2,ENST00000591586.1,ENST00000454313.1,ENST00000586783.1
exon_skip_3156301914003992:14004036:14006184:14006359:14015674:1401570514006184:14006359ENSG00000132016.7ENST00000346736.2,ENST00000591586.1,ENST00000454313.1,ENST00000586783.1

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

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Exon skipping events with PSIs in GTEx for C19orf57

check button Information of exkip skipping event in GTEx
Exon skip IDchrExons involved in exon skippingSkipped exonENSGENSTs
exon_skip_3156221913993413:13993765:13994120:13994213:13996773:1399686813994120:13994213ENSG00000132016.7ENST00000586783.1,ENST00000454313.1,ENST00000591586.1
exon_skip_3156281913996773:13996868:14000000:14001275:14003598:1400370314000000:14001275ENSG00000132016.7ENST00000586783.1,ENST00000346736.2,ENST00000454313.1
exon_skip_3156291914003598:14003703:14003954:14004036:14006184:1400635914003954:14004036ENSG00000132016.7ENST00000586783.1,ENST00000346736.2,ENST00000454313.1,ENST00000591586.1
exon_skip_3156301914003992:14004036:14006184:14006359:14015674:1401570514006184:14006359ENSG00000132016.7ENST00000586783.1,ENST00000346736.2,ENST00000454313.1,ENST00000591586.1

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 C19orf57

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
ENST000005867831400395414004036Frame-shift
ENST000005867831400618414006359Frame-shift
ENST000005867831399412013994213In-frame
ENST000005867831400000014001275In-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
ENST000005867831400395414004036Frame-shift
ENST000005867831400618414006359Frame-shift
ENST000005867831399412013994213In-frame
ENST000005867831400000014001275In-frame

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Infer the effects of exon skipping event on protein functional features for C19orf57

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
ENST00000586783247166814000000140012753941668131556
ENST000005867832471668139941201399421317641856588618

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
ENST00000586783247166814000000140012753941668131556
ENST000005867832471668139941201399421317641856588618

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
Q0VDD71315561668ChainID=PRO_0000295737;Note=Uncharacterized protein C19orf57
Q0VDD7131556370370Modified residueNote=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000244;evidence=ECO:0000244|PubMed:19690332,ECO:0000244|PubMed:23186163;Dbxref=PMID:19690332,PMID:23186163
Q0VDD7131556267267Natural variantID=VAR_033356;Note=G->R;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:15489334;Dbxref=dbSNP:rs2305775,PMID:15489334
Q0VDD7131556500500Natural variantID=VAR_033357;Note=Q->R;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:15489334;Dbxref=dbSNP:rs3803892,PMID:15489334
Q0VDD7131556491491Sequence conflictNote=D->E;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q0VDD7588618588619Alternative sequenceID=VSP_027044;Note=In isoform 2. RTFVGIQASEASRMEDATNVVRGLIVELSNLN->S;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:14702039,ECO:0000303|PubMed:15489334;Dbxref=PMID:14702039,PMID:15489334
Q0VDD75886181668ChainID=PRO_0000295737;Note=Uncharacterized protein C19orf57


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
Q0VDD71315561668ChainID=PRO_0000295737;Note=Uncharacterized protein C19orf57
Q0VDD7131556370370Modified residueNote=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000244;evidence=ECO:0000244|PubMed:19690332,ECO:0000244|PubMed:23186163;Dbxref=PMID:19690332,PMID:23186163
Q0VDD7131556267267Natural variantID=VAR_033356;Note=G->R;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:15489334;Dbxref=dbSNP:rs2305775,PMID:15489334
Q0VDD7131556500500Natural variantID=VAR_033357;Note=Q->R;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:15489334;Dbxref=dbSNP:rs3803892,PMID:15489334
Q0VDD7131556491491Sequence conflictNote=D->E;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q0VDD7588618588619Alternative sequenceID=VSP_027044;Note=In isoform 2. RTFVGIQASEASRMEDATNVVRGLIVELSNLN->S;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:14702039,ECO:0000303|PubMed:15489334;Dbxref=PMID:14702039,PMID:15489334
Q0VDD75886181668ChainID=PRO_0000295737;Note=Uncharacterized protein C19orf57


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SNVs in the skipped exons for C19orf57

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.
C19orf57_HNSC_exon_skip_315628_psi_boxplot.png
boxplot
C19orf57_SARC_exon_skip_315628_psi_boxplot.png
boxplot

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_315628
14000001140012751400001114000011Frame_Shift_DelG-p.P554fs
LIHCTCGA-DD-A3A1-01exon_skip_315628
14000001140012751400002014000020Frame_Shift_DelA-p.F550fs
BRCATCGA-BH-A0BJ-01exon_skip_315628
14000001140012751400092614000926Frame_Shift_DelT-p.D248fs
SARCTCGA-DX-A3U7-01exon_skip_315628
14000001140012751400005114000051Nonsense_MutationGAp.Q540*
HNSCTCGA-CV-6961-01exon_skip_315628
14000001140012751400082414000824Nonsense_MutationGCp.S282*
SKCMTCGA-EE-A2M5-06exon_skip_315628
14000001140012751400120314001203Nonsense_MutationGAp.Q156*
SKCMTCGA-RP-A694-06exon_skip_315628
14000001140012751400120314001203Nonsense_MutationGAp.Q156*
CESCTCGA-MY-A5BD-01exon_skip_315629
14003955140040361400395714003957Nonsense_MutationGAp.Q96*
KIRPTCGA-5P-A9KA-01exon_skip_315629
14003955140040361400403714004037Splice_SiteCT.

check button - Depth of coverage in the three exons composing exon skipping event
Depth of coverage in three exonsMutation description
C19orf57_13996773_13996868_14000000_14001275_14003598_14003703_TCGA-CV-6961-01Sample: TCGA-CV-6961-01
Cancer type: HNSC
ESID: exon_skip_315628
Skipped exon start: 14000001
Skipped exon end: 14001275
Mutation start: 14000824
Mutation end: 14000824
Mutation type: Nonsense_Mutation
Reference seq: G
Mutation seq: C
AAchange: p.S282*
exon_skip_10881_HNSC_TCGA-CV-6961-01.png
boxplot
exon_skip_303822_HNSC_TCGA-CV-6961-01.png
boxplot
exon_skip_307295_HNSC_TCGA-CV-6961-01.png
boxplot
exon_skip_307296_HNSC_TCGA-CV-6961-01.png
boxplot
exon_skip_315628_HNSC_TCGA-CV-6961-01.png
boxplot
exon_skip_488752_HNSC_TCGA-CV-6961-01.png
boxplot
exon_skip_93891_HNSC_TCGA-CV-6961-01.png
boxplot
C19orf57_13996773_13996868_14000000_14001275_14003598_14003703_TCGA-DX-A3U7-01Sample: TCGA-DX-A3U7-01
Cancer type: SARC
ESID: exon_skip_315628
Skipped exon start: 14000001
Skipped exon end: 14001275
Mutation start: 14000051
Mutation end: 14000051
Mutation type: Nonsense_Mutation
Reference seq: G
Mutation seq: A
AAchange: p.Q540*
exon_skip_315628_SARC_TCGA-DX-A3U7-01.png
boxplot

check button - Non-synonymous mutations located in the skipped exons in CCLE.
SampleSkipped exon startSkipped exon endMutation startMutation endMutation typeReference seqMutation seqAAchange
2313287_STOMACH14000001140012751400044514000445Frame_Shift_DelG-p.P408fs
KATOIII_STOMACH14000001140012751400071914000729Frame_Shift_DelCTGCTGGGGGT-p.TPSR314fs
FARAGE_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE14000001140012751400106914001076Frame_Shift_DelCCCCGTCC-p.GTG198fs
JURKAT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE14000001140012751400118214001182Frame_Shift_DelC-p.D163fs
L1236_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE13994121139942131399415513994155Missense_MutationCTp.V608M
TK_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE14000001140012751400003014000030Missense_MutationCTp.A547T
JURKAT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE14000001140012751400007814000078Missense_MutationCTp.V531M
PLB985_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE14000001140012751400013814000138Missense_MutationCTp.G511R
UMUC16_URINARY_TRACT14000001140012751400025814000258Missense_MutationCTp.E471K
MDAMB435S_SKIN14000001140012751400040114000401Missense_MutationGAp.P423L
NCC010_KIDNEY14000001140012751400042914000429Missense_MutationCTp.G414S
SNU175_LARGE_INTESTINE14000001140012751400042914000429Missense_MutationCAp.G414C
OCIAML5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE14000001140012751400054514000545Missense_MutationGAp.A375V
RERFLCKJ_LUNG14000001140012751400056014000560Missense_MutationGAp.S370F
AN3CA_ENDOMETRIUM14000001140012751400059614000596Missense_MutationCTp.G358E
C33A_CERVIX14000001140012751400061314000613Missense_MutationCAp.R352S
CCRFCEM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE14000001140012751400066314000663Missense_MutationTCp.M336V
HEC108_ENDOMETRIUM14000001140012751400066614000666Missense_MutationCTp.G335R
UMUC16_URINARY_TRACT14000001140012751400085514000855Missense_MutationCTp.E272K
EN_ENDOMETRIUM14000001140012751400085514000855Missense_MutationCTp.E272K
LB2518MEL_SKIN14000001140012751400098114000981Missense_MutationCTp.D230N
MOLT3_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE14000001140012751400109214001092Missense_MutationCTp.D193N
IGROV1_OVARY14000001140012751400117014001170Missense_MutationCTp.A167T
P3HR1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE14000001140012751400120114001201Missense_MutationCAp.Q156H
JIYOYEP2003_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE14000001140012751400120114001201Missense_MutationCAp.Q156H
KYSE220_OESOPHAGUS14000001140012751400120914001209Missense_MutationGCp.P154A
CPCN_LUNG14000001140012751400125414001254Missense_MutationCTp.A139T
KYSE140_OESOPHAGUS14006185140063591400619414006194Missense_MutationGAp.A66V
P31FUJ_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE14006185140063591400619414006194Missense_MutationGAp.A66V
MM370_SKIN14006185140063591400626314006263Missense_MutationGAp.P43L
KYSE140_OESOPHAGUS14006185140063591400628014006280Missense_MutationCGp.L37F
ONS76_CENTRAL_NERVOUS_SYSTEM14006185140063591400629714006297Missense_MutationGAp.P32S
NCIH1838_LUNG14006185140063591400630314006303Missense_MutationCTp.G30R
SW1783_CENTRAL_NERVOUS_SYSTEM14006185140063591400632314006323Missense_MutationGAp.P23L
SNU1040_LARGE_INTESTINE14000001140012751400013214000132Nonsense_MutationGAp.R513*

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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for C19orf57

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 C19orf57


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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for C19orf57


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RelatedDrugs for C19orf57

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 C19orf57

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