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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 C21orf58

check button Gene summary
Gene informationGene symbol

C21orf58

Gene ID

54058

Gene namechromosome 21 open reading frame 58
Synonyms-
Cytomap

21q22.3

Type of geneprotein-coding
Descriptionuncharacterized protein C21orf58
Modification date20180519
UniProtAcc

P58505

ContextPubMed: C21orf58 [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 C21orf58 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 C21orf58

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 C21orf58

check button Information of exkip skipping event in TCGA.
Exon skip IDchrExons involved in exon skippingSkipped exonENSGENSTs
exon_skip_3629082147720424:47720639:47721910:47722068:47722398:4772249047721910:47722068ENSG00000160298.13ENST00000417060.1
exon_skip_3629102147720343:47720708:47721910:47722068:47722398:4772249047721910:47722068ENSG00000160298.13ENST00000397683.1
exon_skip_3629112147721043:47721627:47721910:47722068:47722398:4772249047721910:47722068ENSG00000160298.13ENST00000397682.3
exon_skip_3629132147722398:47722490:47731369:47731481:47734629:4773479447731369:47731481ENSG00000160298.13ENST00000397679.1,ENST00000417060.1,ENST00000397680.1,ENST00000491666.1,ENST00000397682.3,ENST00000291691.7,ENST00000397683.1
exon_skip_3629142147731369:47731481:47734629:47734794:47735387:4773546147734629:47734794ENSG00000160298.13ENST00000417060.1,ENST00000491666.1,ENST00000291691.7
exon_skip_3629152147731369:47731481:47734629:47734963:47735387:4773546147734629:47734963ENSG00000160298.13ENST00000397679.1,ENST00000397680.1,ENST00000397682.3,ENST00000397683.1
exon_skip_3629242147737925:47738134:47738698:47738875:47742552:4774268147738698:47738875ENSG00000160298.13ENST00000445935.1,ENST00000397685.4

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

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Exon skipping events with PSIs in GTEx for C21orf58

check button Information of exkip skipping event in GTEx
Exon skip IDchrExons involved in exon skippingSkipped exonENSGENSTs
exon_skip_3629082147720424:47720639:47721910:47722068:47722398:4772249047721910:47722068ENSG00000160298.13ENST00000417060.1
exon_skip_3629102147720343:47720708:47721910:47722068:47722398:4772249047721910:47722068ENSG00000160298.13ENST00000397683.1
exon_skip_3629112147721043:47721627:47721910:47722068:47722398:4772249047721910:47722068ENSG00000160298.13ENST00000397682.3
exon_skip_3629132147722398:47722490:47731369:47731481:47734629:4773479447731369:47731481ENSG00000160298.13ENST00000491666.1,ENST00000397683.1,ENST00000417060.1,ENST00000397682.3,ENST00000291691.7,ENST00000397679.1,ENST00000397680.1
exon_skip_3629142147731369:47731481:47734629:47734794:47735387:4773546147734629:47734794ENSG00000160298.13ENST00000491666.1,ENST00000417060.1,ENST00000291691.7
exon_skip_3629152147731369:47731481:47734629:47734963:47735387:4773546147734629:47734963ENSG00000160298.13ENST00000397683.1,ENST00000397682.3,ENST00000397679.1,ENST00000397680.1
exon_skip_3629242147737925:47738134:47738698:47738875:47742552:4774268147738698:47738875ENSG00000160298.13ENST00000445935.1,ENST00000397685.4

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 C21orf58

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
ENST000002916914773136947731481Frame-shift
ENST000002916914773462947734794In-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
ENST000002916914773136947731481Frame-shift
ENST000002916914773462947734794In-frame

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Infer the effects of exon skipping event on protein functional features for C21orf58

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
ENST000002916912992322477346294773479415821746148203

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
ENST000002916912992322477346294773479415821746148203

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
P585051482031148Alternative sequenceID=VSP_057984;Note=In isoform 3. MARSRLPATSLRKPWKLDRQKLPSPDSGHSLLCGWSPGGKARPAGNTGAWAPAEQFFPASNRTREGGGLWPPLPLQSSPAAPTMLDSSAAEQVTRLTLKLLGQKLEQERQNVEGGPEGLHLEPGNEDRPDDALQTALKRRRDLLQRLR->MAILPGEAPVPGPGWPEPDAGGASVALGLPVPVCSSSASALQ
P585051482031322ChainID=PRO_0000079521;Note=Uncharacterized protein C21orf58


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
P585051482031148Alternative sequenceID=VSP_057984;Note=In isoform 3. MARSRLPATSLRKPWKLDRQKLPSPDSGHSLLCGWSPGGKARPAGNTGAWAPAEQFFPASNRTREGGGLWPPLPLQSSPAAPTMLDSSAAEQVTRLTLKLLGQKLEQERQNVEGGPEGLHLEPGNEDRPDDALQTALKRRRDLLQRLR->MAILPGEAPVPGPGWPEPDAGGASVALGLPVPVCSSSASALQ
P585051482031322ChainID=PRO_0000079521;Note=Uncharacterized protein C21orf58


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SNVs in the skipped exons for C21orf58

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.

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_362913
47731370477314814773140947731409Frame_Shift_DelG-p.Q228fs
KIRCTCGA-B8-4620-01exon_skip_362913
47731370477314814773144047731441Frame_Shift_DelCT-p.217_218del
COADTCGA-F4-6703-01exon_skip_362914
47734630477347944773469947734699Frame_Shift_DelG-p.T181fs
COADTCGA-F4-6703-01exon_skip_362915
47734630477349634773469947734699Frame_Shift_DelG-p.T181fs
UCECTCGA-D1-A17H-01exon_skip_362914
47734630477347944773469947734699Frame_Shift_DelG-p.P180fs
UCECTCGA-D1-A17H-01exon_skip_362915
47734630477349634773469947734699Frame_Shift_DelG-p.P180fs
LUADTCGA-55-7913-01exon_skip_362915
47734630477349634773479947734799Frame_Shift_DelA-p.L41fs
BRCATCGA-E9-A1NC-01exon_skip_362914
47734630477347944773473347734734Frame_Shift_Ins-ATp.A169fs
BRCATCGA-E9-A1NC-01exon_skip_362915
47734630477349634773473347734734Frame_Shift_Ins-ATp.A169fs
SKCMTCGA-GF-A6C9-06exon_skip_362913
47731370477314814773139447731394Nonsense_MutationGAp.Q233*

check button - Depth of coverage in the three exons composing exon skipping event
Depth of coverage in three exonsMutation description
C21orf58_47731369_47731481_47734629_47734963_47735387_47735461_TCGA-55-7913-01Sample: TCGA-55-7913-01
Cancer type: LUAD
ESID: exon_skip_362915
Skipped exon start: 47734630
Skipped exon end: 47734963
Mutation start: 47734799
Mutation end: 47734799
Mutation type: Frame_Shift_Del
Reference seq: A
Mutation seq: -
AAchange: p.L41fs
exon_skip_362915_LUAD_TCGA-55-7913-01.png
boxplot

check button - Non-synonymous mutations located in the skipped exons in CCLE.
SampleSkipped exon startSkipped exon endMutation startMutation endMutation typeReference seqMutation seqAAchange
KPNYN_AUTONOMIC_GANGLIA47721911477220684772198947721990In_Frame_Ins-GGCp.297_298insR
CW2_LARGE_INTESTINE47721911477220684772203247722032Missense_MutationCTp.A284T
DMS79_LUNG47731370477314814773137447731374Missense_MutationCAp.K239N
T24_URINARY_TRACT47731370477314814773142747731427Missense_MutationCGp.A222P
SLR20_KIDNEY47731370477314814773142747731427Missense_MutationCGp.A222P
SH4_SKIN47734630477347944773478747734787Missense_MutationTCp.H151R
SH4_SKIN47734630477349634773478747734787Missense_MutationTCp.H151R
BT474_BREAST47731370477314814773144247731442Nonsense_MutationGAp.Q217*
VMCUB1_URINARY_TRACT47721911477220684772191447721914Nonstop_MutationCGp.*323S
CW2_LARGE_INTESTINE47721911477220684772191547721915Nonstop_MutationAGp.*323R

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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for C21orf58

check button sQTL information located at the skipped exons.
Exon skip IDChromosomeThree exonsSkippped exonENSTCancer typeSNP idLocationDNA change (ref/var)P-value
exon_skip_3629102147720343:47720708:47721910:47722068:47722398:4772249047721910:47722068ENST00000397683.1KIRCrs71318063chr21:47721985A/ATGG2.98e-03
exon_skip_3629102147720343:47720708:47721910:47722068:47722398:4772249047721910:47722068ENST00000397683.1THCArs71318063chr21:47721985A/ATGG3.90e-05
exon_skip_3629102147720343:47720708:47721910:47722068:47722398:4772249047721910:47722068ENST00000397683.1THCArs71318063chr21:47721985A/ATGG3.90e-05
exon_skip_3629112147721043:47721627:47721910:47722068:47722398:4772249047721910:47722068ENST00000397682.3KIRCrs71318063chr21:47721985A/ATGG2.98e-03
exon_skip_3629112147721043:47721627:47721910:47722068:47722398:4772249047721910:47722068ENST00000397682.3THCArs71318063chr21:47721985A/ATGG3.90e-05
exon_skip_3629112147721043:47721627:47721910:47722068:47722398:4772249047721910:47722068ENST00000397682.3THCArs71318063chr21:47721985A/ATGG3.90e-05
exon_skip_3629142147731369:47731481:47734629:47734794:47735387:4773546147734629:47734794ENST00000417060.1,ENST00000491666.1,ENST00000291691.7CESCrs13047478chr21:47734659G/A5.22e-04
exon_skip_3629142147731369:47731481:47734629:47734794:47735387:4773546147734629:47734794ENST00000417060.1,ENST00000491666.1,ENST00000291691.7CESCrs13047478chr21:47734659G/A5.22e-04
exon_skip_3629142147731369:47731481:47734629:47734794:47735387:4773546147734629:47734794ENST00000417060.1,ENST00000491666.1,ENST00000291691.7BRCArs13047478chr21:47734659G/A1.91e-05
exon_skip_3629142147731369:47731481:47734629:47734794:47735387:4773546147734629:47734794ENST00000417060.1,ENST00000491666.1,ENST00000291691.7BRCArs13047478chr21:47734659G/A1.10e-04
exon_skip_3629142147731369:47731481:47734629:47734794:47735387:4773546147734629:47734794ENST00000417060.1,ENST00000491666.1,ENST00000291691.7LGGrs13047478chr21:47734659G/A1.01e-04
exon_skip_3629142147731369:47731481:47734629:47734794:47735387:4773546147734629:47734794ENST00000417060.1,ENST00000491666.1,ENST00000291691.7LGGrs13047478chr21:47734659G/A1.01e-04
exon_skip_3629142147731369:47731481:47734629:47734794:47735387:4773546147734629:47734794ENST00000417060.1,ENST00000491666.1,ENST00000291691.7KIRCrs13047478chr21:47734659G/A9.43e-05
exon_skip_3629142147731369:47731481:47734629:47734794:47735387:4773546147734629:47734794ENST00000417060.1,ENST00000491666.1,ENST00000291691.7KIRCrs13047478chr21:47734659G/A1.50e-04
exon_skip_3629142147731369:47731481:47734629:47734794:47735387:4773546147734629:47734794ENST00000417060.1,ENST00000491666.1,ENST00000291691.7LIHCrs13047478chr21:47734659G/A8.11e-04
exon_skip_3629142147731369:47731481:47734629:47734794:47735387:4773546147734629:47734794ENST00000417060.1,ENST00000491666.1,ENST00000291691.7LUSCrs13047478chr21:47734659G/A1.57e-04
exon_skip_3629142147731369:47731481:47734629:47734794:47735387:4773546147734629:47734794ENST00000417060.1,ENST00000491666.1,ENST00000291691.7LUSCrs13047478chr21:47734659G/A2.39e-04
exon_skip_3629142147731369:47731481:47734629:47734794:47735387:4773546147734629:47734794ENST00000417060.1,ENST00000491666.1,ENST00000291691.7PRADrs13047478chr21:47734659G/A2.87e-03
exon_skip_3629142147731369:47731481:47734629:47734794:47735387:4773546147734629:47734794ENST00000417060.1,ENST00000491666.1,ENST00000291691.7PRADrs13047478chr21:47734659G/A2.87e-03
exon_skip_3629142147731369:47731481:47734629:47734794:47735387:4773546147734629:47734794ENST00000417060.1,ENST00000491666.1,ENST00000291691.7THCArs13047478chr21:47734659G/A1.18e-04
exon_skip_3629142147731369:47731481:47734629:47734794:47735387:4773546147734629:47734794ENST00000417060.1,ENST00000491666.1,ENST00000291691.7THCArs13047478chr21:47734659G/A1.18e-04
exon_skip_3629152147731369:47731481:47734629:47734963:47735387:4773546147734629:47734963ENST00000397679.1,ENST00000397680.1,ENST00000397682.3,ENST00000397683.1CESCrs13047478chr21:47734659G/A5.22e-04
exon_skip_3629152147731369:47731481:47734629:47734963:47735387:4773546147734629:47734963ENST00000397679.1,ENST00000397680.1,ENST00000397682.3,ENST00000397683.1CESCrs13047478chr21:47734659G/A5.22e-04
exon_skip_3629152147731369:47731481:47734629:47734963:47735387:4773546147734629:47734963ENST00000397679.1,ENST00000397680.1,ENST00000397682.3,ENST00000397683.1BRCArs13047478chr21:47734659G/A1.91e-05
exon_skip_3629152147731369:47731481:47734629:47734963:47735387:4773546147734629:47734963ENST00000397679.1,ENST00000397680.1,ENST00000397682.3,ENST00000397683.1BRCArs13047478chr21:47734659G/A1.10e-04
exon_skip_3629152147731369:47731481:47734629:47734963:47735387:4773546147734629:47734963ENST00000397679.1,ENST00000397680.1,ENST00000397682.3,ENST00000397683.1LGGrs13047478chr21:47734659G/A1.01e-04
exon_skip_3629152147731369:47731481:47734629:47734963:47735387:4773546147734629:47734963ENST00000397679.1,ENST00000397680.1,ENST00000397682.3,ENST00000397683.1LGGrs13047478chr21:47734659G/A1.01e-04
exon_skip_3629152147731369:47731481:47734629:47734963:47735387:4773546147734629:47734963ENST00000397679.1,ENST00000397680.1,ENST00000397682.3,ENST00000397683.1KIRCrs13047478chr21:47734659G/A9.43e-05
exon_skip_3629152147731369:47731481:47734629:47734963:47735387:4773546147734629:47734963ENST00000397679.1,ENST00000397680.1,ENST00000397682.3,ENST00000397683.1KIRCrs13047478chr21:47734659G/A1.50e-04
exon_skip_3629152147731369:47731481:47734629:47734963:47735387:4773546147734629:47734963ENST00000397679.1,ENST00000397680.1,ENST00000397682.3,ENST00000397683.1LIHCrs13047478chr21:47734659G/A8.11e-04
exon_skip_3629152147731369:47731481:47734629:47734963:47735387:4773546147734629:47734963ENST00000397679.1,ENST00000397680.1,ENST00000397682.3,ENST00000397683.1LUSCrs13047478chr21:47734659G/A1.57e-04
exon_skip_3629152147731369:47731481:47734629:47734963:47735387:4773546147734629:47734963ENST00000397679.1,ENST00000397680.1,ENST00000397682.3,ENST00000397683.1LUSCrs13047478chr21:47734659G/A2.39e-04
exon_skip_3629152147731369:47731481:47734629:47734963:47735387:4773546147734629:47734963ENST00000397679.1,ENST00000397680.1,ENST00000397682.3,ENST00000397683.1PRADrs13047478chr21:47734659G/A2.87e-03
exon_skip_3629152147731369:47731481:47734629:47734963:47735387:4773546147734629:47734963ENST00000397679.1,ENST00000397680.1,ENST00000397682.3,ENST00000397683.1PRADrs13047478chr21:47734659G/A2.87e-03
exon_skip_3629152147731369:47731481:47734629:47734963:47735387:4773546147734629:47734963ENST00000397679.1,ENST00000397680.1,ENST00000397682.3,ENST00000397683.1THCArs13047478chr21:47734659G/A1.18e-04
exon_skip_3629152147731369:47731481:47734629:47734963:47735387:4773546147734629:47734963ENST00000397679.1,ENST00000397680.1,ENST00000397682.3,ENST00000397683.1THCArs13047478chr21:47734659G/A1.18e-04
exon_skip_3629082147720424:47720639:47721910:47722068:47722398:4772249047721910:47722068ENST00000417060.1KIRCrs71318063chr21:47721985A/ATGG2.98e-03
exon_skip_3629082147720424:47720639:47721910:47722068:47722398:4772249047721910:47722068ENST00000417060.1THCArs71318063chr21:47721985A/ATGG3.90e-05
exon_skip_3629082147720424:47720639:47721910:47722068:47722398:4772249047721910:47722068ENST00000417060.1THCArs71318063chr21:47721985A/ATGG3.90e-05

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Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for C21orf58


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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for C21orf58


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RelatedDrugs for C21orf58

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 C21orf58

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