|
Open reading frame (ORF) annotation in the exon skipping event | |
Splicing Quantitative Trait Loci (sQTLs) in the skipped exons | |
Splicing Quantitative Trait Methylation (sQTM) in the skipped exon | |
Gene summary for C21orf58 |
Gene summary |
Gene information | Gene symbol | C21orf58 | Gene ID | 54058 |
Gene name | chromosome 21 open reading frame 58 | |
Synonyms | - | |
Cytomap | 21q22.3 | |
Type of gene | protein-coding | |
Description | uncharacterized protein C21orf58 | |
Modification date | 20180519 | |
UniProtAcc | P58505 | |
Context | PubMed: C21orf58 [Title/Abstract] AND exon [Title/Abstract] AND skip [Title/Abstract] - Title (PMID) |
Gene ontology of each this gene with evidence of Inferred from Direct Assay (IDA) from Entrez |
Gene | GO ID | GO term | PubMed ID |
Top |
Exon skipping events across known transcript of Ensembl for C21orf58 from UCSC genome browser |
Skipped 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. |
Top |
Gene isoform structures and expression levels for C21orf58 |
Expression levels of gene isoforms across TCGA. |
Expression levels of gene isoforms across GTEx. |
Top |
Exon skipping events with PSIs in TCGA for C21orf58 |
Information of exkip skipping event in TCGA. |
Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
exon_skip_362908 | 21 | 47720424:47720639:47721910:47722068:47722398:47722490 | 47721910:47722068 | ENSG00000160298.13 | ENST00000417060.1 |
exon_skip_362910 | 21 | 47720343:47720708:47721910:47722068:47722398:47722490 | 47721910:47722068 | ENSG00000160298.13 | ENST00000397683.1 |
exon_skip_362911 | 21 | 47721043:47721627:47721910:47722068:47722398:47722490 | 47721910:47722068 | ENSG00000160298.13 | ENST00000397682.3 |
exon_skip_362913 | 21 | 47722398:47722490:47731369:47731481:47734629:47734794 | 47731369:47731481 | ENSG00000160298.13 | ENST00000397679.1,ENST00000417060.1,ENST00000397680.1,ENST00000491666.1,ENST00000397682.3,ENST00000291691.7,ENST00000397683.1 |
exon_skip_362914 | 21 | 47731369:47731481:47734629:47734794:47735387:47735461 | 47734629:47734794 | ENSG00000160298.13 | ENST00000417060.1,ENST00000491666.1,ENST00000291691.7 |
exon_skip_362915 | 21 | 47731369:47731481:47734629:47734963:47735387:47735461 | 47734629:47734963 | ENSG00000160298.13 | ENST00000397679.1,ENST00000397680.1,ENST00000397682.3,ENST00000397683.1 |
exon_skip_362924 | 21 | 47737925:47738134:47738698:47738875:47742552:47742681 | 47738698:47738875 | ENSG00000160298.13 | ENST00000445935.1,ENST00000397685.4 |
PSI values of skipped exons in TCGA. |
Top |
Exon skipping events with PSIs in GTEx for C21orf58 |
Information of exkip skipping event in GTEx |
Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
exon_skip_362908 | 21 | 47720424:47720639:47721910:47722068:47722398:47722490 | 47721910:47722068 | ENSG00000160298.13 | ENST00000417060.1 |
exon_skip_362910 | 21 | 47720343:47720708:47721910:47722068:47722398:47722490 | 47721910:47722068 | ENSG00000160298.13 | ENST00000397683.1 |
exon_skip_362911 | 21 | 47721043:47721627:47721910:47722068:47722398:47722490 | 47721910:47722068 | ENSG00000160298.13 | ENST00000397682.3 |
exon_skip_362913 | 21 | 47722398:47722490:47731369:47731481:47734629:47734794 | 47731369:47731481 | ENSG00000160298.13 | ENST00000491666.1,ENST00000397683.1,ENST00000417060.1,ENST00000397682.3,ENST00000291691.7,ENST00000397679.1,ENST00000397680.1 |
exon_skip_362914 | 21 | 47731369:47731481:47734629:47734794:47735387:47735461 | 47734629:47734794 | ENSG00000160298.13 | ENST00000491666.1,ENST00000417060.1,ENST00000291691.7 |
exon_skip_362915 | 21 | 47731369:47731481:47734629:47734963:47735387:47735461 | 47734629:47734963 | ENSG00000160298.13 | ENST00000397683.1,ENST00000397682.3,ENST00000397679.1,ENST00000397680.1 |
exon_skip_362924 | 21 | 47737925:47738134:47738698:47738875:47742552:47742681 | 47738698:47738875 | ENSG00000160298.13 | ENST00000445935.1,ENST00000397685.4 |
PSI values of skipped exons in GTEx. |
* Skipped exon sequences. |
Top |
Open reading frame (ORF) annotation in the exon skipping event for C21orf58 |
Open reading frame (ORF) of individual exon skipping events in TCGA based on the Ensembl gene structure combined from isoforms. |
ENST | Start of skipped exon | End of skipped exon | ORF |
ENST00000291691 | 47731369 | 47731481 | Frame-shift |
ENST00000291691 | 47734629 | 47734794 | In-frame |
Open reading frame (ORF) of individual exon skipping events in GTEx based on the Ensembl gene structure combined from isoforms. |
ENST | Start of skipped exon | End of skipped exon | ORF |
ENST00000291691 | 47731369 | 47731481 | Frame-shift |
ENST00000291691 | 47734629 | 47734794 | In-frame |
Top |
Infer the effects of exon skipping event on protein functional features for C21orf58 |
Exon skipping at the protein sequence level and followed lost functional features. * Click on the image to enlarge it in a new window. |
Loci of skipped exons in TCGA across genomic, transcript, and protein sequence levels of In-frame cases. |
ENST | Length of mRNA | Length of AA seq. | Genomic start | Genomic end | mRNA start | mRNA end | AA start | AA end |
ENST00000291691 | 2992 | 322 | 47734629 | 47734794 | 1582 | 1746 | 148 | 203 |
Loci of skipped exons in GTEx across genomic, transcript, and protein sequence levels of In-frame cases. |
ENST | Length of mRNA | Length of AA seq. | Genomic start | Genomic end | mRNA start | mRNA end | AA start | AA end |
ENST00000291691 | 2992 | 322 | 47734629 | 47734794 | 1582 | 1746 | 148 | 203 |
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 feature | Description of feature |
P58505 | 148 | 203 | 1 | 148 | Alternative sequence | ID=VSP_057984;Note=In isoform 3. MARSRLPATSLRKPWKLDRQKLPSPDSGHSLLCGWSPGGKARPAGNTGAWAPAEQFFPASNRTREGGGLWPPLPLQSSPAAPTMLDSSAAEQVTRLTLKLLGQKLEQERQNVEGGPEGLHLEPGNEDRPDDALQTALKRRRDLLQRLR->MAILPGEAPVPGPGWPEPDAGGASVALGLPVPVCSSSASALQ |
P58505 | 148 | 203 | 1 | 322 | Chain | ID=PRO_0000079521;Note=Uncharacterized protein C21orf58 |
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 feature | Description of feature |
P58505 | 148 | 203 | 1 | 148 | Alternative sequence | ID=VSP_057984;Note=In isoform 3. MARSRLPATSLRKPWKLDRQKLPSPDSGHSLLCGWSPGGKARPAGNTGAWAPAEQFFPASNRTREGGGLWPPLPLQSSPAAPTMLDSSAAEQVTRLTLKLLGQKLEQERQNVEGGPEGLHLEPGNEDRPDDALQTALKRRRDLLQRLR->MAILPGEAPVPGPGWPEPDAGGASVALGLPVPVCSSSASALQ |
P58505 | 148 | 203 | 1 | 322 | Chain | ID=PRO_0000079521;Note=Uncharacterized protein C21orf58 |
Top |
SNVs in the skipped exons for C21orf58 |
- Lollipop plot for presenting exon skipping associated SNVs. * Click on the image to enlarge it in a new window. |
- Differential PSIs between mutated versus non-mutated samples. |
- Non-synonymous mutations located in the skipped exons in TCGA. |
Cancer type | Sample | ESID | Skipped exon start | Skipped exon end | Mutation start | Mutation end | Mutation type | Reference seq | Mutation seq | AAchange |
LIHC | TCGA-G3-A3CJ-01 | exon_skip_362913 | 47731370 | 47731481 | 47731409 | 47731409 | Frame_Shift_Del | G | - | p.Q228fs |
KIRC | TCGA-B8-4620-01 | exon_skip_362913 | 47731370 | 47731481 | 47731440 | 47731441 | Frame_Shift_Del | CT | - | p.217_218del |
COAD | TCGA-F4-6703-01 | exon_skip_362914 | 47734630 | 47734794 | 47734699 | 47734699 | Frame_Shift_Del | G | - | p.T181fs |
COAD | TCGA-F4-6703-01 | exon_skip_362915 | 47734630 | 47734963 | 47734699 | 47734699 | Frame_Shift_Del | G | - | p.T181fs |
UCEC | TCGA-D1-A17H-01 | exon_skip_362914 | 47734630 | 47734794 | 47734699 | 47734699 | Frame_Shift_Del | G | - | p.P180fs |
UCEC | TCGA-D1-A17H-01 | exon_skip_362915 | 47734630 | 47734963 | 47734699 | 47734699 | Frame_Shift_Del | G | - | p.P180fs |
LUAD | TCGA-55-7913-01 | exon_skip_362915 | 47734630 | 47734963 | 47734799 | 47734799 | Frame_Shift_Del | A | - | p.L41fs |
BRCA | TCGA-E9-A1NC-01 | exon_skip_362914 | 47734630 | 47734794 | 47734733 | 47734734 | Frame_Shift_Ins | - | AT | p.A169fs |
BRCA | TCGA-E9-A1NC-01 | exon_skip_362915 | 47734630 | 47734963 | 47734733 | 47734734 | Frame_Shift_Ins | - | AT | p.A169fs |
SKCM | TCGA-GF-A6C9-06 | exon_skip_362913 | 47731370 | 47731481 | 47731394 | 47731394 | Nonsense_Mutation | G | A | p.Q233* |
- Depth of coverage in the three exons composing exon skipping event |
- Non-synonymous mutations located in the skipped exons in CCLE. |
Sample | Skipped exon start | Skipped exon end | Mutation start | Mutation end | Mutation type | Reference seq | Mutation seq | AAchange |
KPNYN_AUTONOMIC_GANGLIA | 47721911 | 47722068 | 47721989 | 47721990 | In_Frame_Ins | - | GGC | p.297_298insR |
CW2_LARGE_INTESTINE | 47721911 | 47722068 | 47722032 | 47722032 | Missense_Mutation | C | T | p.A284T |
DMS79_LUNG | 47731370 | 47731481 | 47731374 | 47731374 | Missense_Mutation | C | A | p.K239N |
T24_URINARY_TRACT | 47731370 | 47731481 | 47731427 | 47731427 | Missense_Mutation | C | G | p.A222P |
SLR20_KIDNEY | 47731370 | 47731481 | 47731427 | 47731427 | Missense_Mutation | C | G | p.A222P |
SH4_SKIN | 47734630 | 47734794 | 47734787 | 47734787 | Missense_Mutation | T | C | p.H151R |
SH4_SKIN | 47734630 | 47734963 | 47734787 | 47734787 | Missense_Mutation | T | C | p.H151R |
BT474_BREAST | 47731370 | 47731481 | 47731442 | 47731442 | Nonsense_Mutation | G | A | p.Q217* |
VMCUB1_URINARY_TRACT | 47721911 | 47722068 | 47721914 | 47721914 | Nonstop_Mutation | C | G | p.*323S |
CW2_LARGE_INTESTINE | 47721911 | 47722068 | 47721915 | 47721915 | Nonstop_Mutation | A | G | p.*323R |
Top |
Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for C21orf58 |
sQTL information located at the skipped exons. |
Exon skip ID | Chromosome | Three exons | Skippped exon | ENST | Cancer type | SNP id | Location | DNA change (ref/var) | P-value |
exon_skip_362910 | 21 | 47720343:47720708:47721910:47722068:47722398:47722490 | 47721910:47722068 | ENST00000397683.1 | KIRC | rs71318063 | chr21:47721985 | A/ATGG | 2.98e-03 |
exon_skip_362910 | 21 | 47720343:47720708:47721910:47722068:47722398:47722490 | 47721910:47722068 | ENST00000397683.1 | THCA | rs71318063 | chr21:47721985 | A/ATGG | 3.90e-05 |
exon_skip_362910 | 21 | 47720343:47720708:47721910:47722068:47722398:47722490 | 47721910:47722068 | ENST00000397683.1 | THCA | rs71318063 | chr21:47721985 | A/ATGG | 3.90e-05 |
exon_skip_362911 | 21 | 47721043:47721627:47721910:47722068:47722398:47722490 | 47721910:47722068 | ENST00000397682.3 | KIRC | rs71318063 | chr21:47721985 | A/ATGG | 2.98e-03 |
exon_skip_362911 | 21 | 47721043:47721627:47721910:47722068:47722398:47722490 | 47721910:47722068 | ENST00000397682.3 | THCA | rs71318063 | chr21:47721985 | A/ATGG | 3.90e-05 |
exon_skip_362911 | 21 | 47721043:47721627:47721910:47722068:47722398:47722490 | 47721910:47722068 | ENST00000397682.3 | THCA | rs71318063 | chr21:47721985 | A/ATGG | 3.90e-05 |
exon_skip_362914 | 21 | 47731369:47731481:47734629:47734794:47735387:47735461 | 47734629:47734794 | ENST00000417060.1,ENST00000491666.1,ENST00000291691.7 | CESC | rs13047478 | chr21:47734659 | G/A | 5.22e-04 |
exon_skip_362914 | 21 | 47731369:47731481:47734629:47734794:47735387:47735461 | 47734629:47734794 | ENST00000417060.1,ENST00000491666.1,ENST00000291691.7 | CESC | rs13047478 | chr21:47734659 | G/A | 5.22e-04 |
exon_skip_362914 | 21 | 47731369:47731481:47734629:47734794:47735387:47735461 | 47734629:47734794 | ENST00000417060.1,ENST00000491666.1,ENST00000291691.7 | BRCA | rs13047478 | chr21:47734659 | G/A | 1.91e-05 |
exon_skip_362914 | 21 | 47731369:47731481:47734629:47734794:47735387:47735461 | 47734629:47734794 | ENST00000417060.1,ENST00000491666.1,ENST00000291691.7 | BRCA | rs13047478 | chr21:47734659 | G/A | 1.10e-04 |
exon_skip_362914 | 21 | 47731369:47731481:47734629:47734794:47735387:47735461 | 47734629:47734794 | ENST00000417060.1,ENST00000491666.1,ENST00000291691.7 | LGG | rs13047478 | chr21:47734659 | G/A | 1.01e-04 |
exon_skip_362914 | 21 | 47731369:47731481:47734629:47734794:47735387:47735461 | 47734629:47734794 | ENST00000417060.1,ENST00000491666.1,ENST00000291691.7 | LGG | rs13047478 | chr21:47734659 | G/A | 1.01e-04 |
exon_skip_362914 | 21 | 47731369:47731481:47734629:47734794:47735387:47735461 | 47734629:47734794 | ENST00000417060.1,ENST00000491666.1,ENST00000291691.7 | KIRC | rs13047478 | chr21:47734659 | G/A | 9.43e-05 |
exon_skip_362914 | 21 | 47731369:47731481:47734629:47734794:47735387:47735461 | 47734629:47734794 | ENST00000417060.1,ENST00000491666.1,ENST00000291691.7 | KIRC | rs13047478 | chr21:47734659 | G/A | 1.50e-04 |
exon_skip_362914 | 21 | 47731369:47731481:47734629:47734794:47735387:47735461 | 47734629:47734794 | ENST00000417060.1,ENST00000491666.1,ENST00000291691.7 | LIHC | rs13047478 | chr21:47734659 | G/A | 8.11e-04 |
exon_skip_362914 | 21 | 47731369:47731481:47734629:47734794:47735387:47735461 | 47734629:47734794 | ENST00000417060.1,ENST00000491666.1,ENST00000291691.7 | LUSC | rs13047478 | chr21:47734659 | G/A | 1.57e-04 |
exon_skip_362914 | 21 | 47731369:47731481:47734629:47734794:47735387:47735461 | 47734629:47734794 | ENST00000417060.1,ENST00000491666.1,ENST00000291691.7 | LUSC | rs13047478 | chr21:47734659 | G/A | 2.39e-04 |
exon_skip_362914 | 21 | 47731369:47731481:47734629:47734794:47735387:47735461 | 47734629:47734794 | ENST00000417060.1,ENST00000491666.1,ENST00000291691.7 | PRAD | rs13047478 | chr21:47734659 | G/A | 2.87e-03 |
exon_skip_362914 | 21 | 47731369:47731481:47734629:47734794:47735387:47735461 | 47734629:47734794 | ENST00000417060.1,ENST00000491666.1,ENST00000291691.7 | PRAD | rs13047478 | chr21:47734659 | G/A | 2.87e-03 |
exon_skip_362914 | 21 | 47731369:47731481:47734629:47734794:47735387:47735461 | 47734629:47734794 | ENST00000417060.1,ENST00000491666.1,ENST00000291691.7 | THCA | rs13047478 | chr21:47734659 | G/A | 1.18e-04 |
exon_skip_362914 | 21 | 47731369:47731481:47734629:47734794:47735387:47735461 | 47734629:47734794 | ENST00000417060.1,ENST00000491666.1,ENST00000291691.7 | THCA | rs13047478 | chr21:47734659 | G/A | 1.18e-04 |
exon_skip_362915 | 21 | 47731369:47731481:47734629:47734963:47735387:47735461 | 47734629:47734963 | ENST00000397679.1,ENST00000397680.1,ENST00000397682.3,ENST00000397683.1 | CESC | rs13047478 | chr21:47734659 | G/A | 5.22e-04 |
exon_skip_362915 | 21 | 47731369:47731481:47734629:47734963:47735387:47735461 | 47734629:47734963 | ENST00000397679.1,ENST00000397680.1,ENST00000397682.3,ENST00000397683.1 | CESC | rs13047478 | chr21:47734659 | G/A | 5.22e-04 |
exon_skip_362915 | 21 | 47731369:47731481:47734629:47734963:47735387:47735461 | 47734629:47734963 | ENST00000397679.1,ENST00000397680.1,ENST00000397682.3,ENST00000397683.1 | BRCA | rs13047478 | chr21:47734659 | G/A | 1.91e-05 |
exon_skip_362915 | 21 | 47731369:47731481:47734629:47734963:47735387:47735461 | 47734629:47734963 | ENST00000397679.1,ENST00000397680.1,ENST00000397682.3,ENST00000397683.1 | BRCA | rs13047478 | chr21:47734659 | G/A | 1.10e-04 |
exon_skip_362915 | 21 | 47731369:47731481:47734629:47734963:47735387:47735461 | 47734629:47734963 | ENST00000397679.1,ENST00000397680.1,ENST00000397682.3,ENST00000397683.1 | LGG | rs13047478 | chr21:47734659 | G/A | 1.01e-04 |
exon_skip_362915 | 21 | 47731369:47731481:47734629:47734963:47735387:47735461 | 47734629:47734963 | ENST00000397679.1,ENST00000397680.1,ENST00000397682.3,ENST00000397683.1 | LGG | rs13047478 | chr21:47734659 | G/A | 1.01e-04 |
exon_skip_362915 | 21 | 47731369:47731481:47734629:47734963:47735387:47735461 | 47734629:47734963 | ENST00000397679.1,ENST00000397680.1,ENST00000397682.3,ENST00000397683.1 | KIRC | rs13047478 | chr21:47734659 | G/A | 9.43e-05 |
exon_skip_362915 | 21 | 47731369:47731481:47734629:47734963:47735387:47735461 | 47734629:47734963 | ENST00000397679.1,ENST00000397680.1,ENST00000397682.3,ENST00000397683.1 | KIRC | rs13047478 | chr21:47734659 | G/A | 1.50e-04 |
exon_skip_362915 | 21 | 47731369:47731481:47734629:47734963:47735387:47735461 | 47734629:47734963 | ENST00000397679.1,ENST00000397680.1,ENST00000397682.3,ENST00000397683.1 | LIHC | rs13047478 | chr21:47734659 | G/A | 8.11e-04 |
exon_skip_362915 | 21 | 47731369:47731481:47734629:47734963:47735387:47735461 | 47734629:47734963 | ENST00000397679.1,ENST00000397680.1,ENST00000397682.3,ENST00000397683.1 | LUSC | rs13047478 | chr21:47734659 | G/A | 1.57e-04 |
exon_skip_362915 | 21 | 47731369:47731481:47734629:47734963:47735387:47735461 | 47734629:47734963 | ENST00000397679.1,ENST00000397680.1,ENST00000397682.3,ENST00000397683.1 | LUSC | rs13047478 | chr21:47734659 | G/A | 2.39e-04 |
exon_skip_362915 | 21 | 47731369:47731481:47734629:47734963:47735387:47735461 | 47734629:47734963 | ENST00000397679.1,ENST00000397680.1,ENST00000397682.3,ENST00000397683.1 | PRAD | rs13047478 | chr21:47734659 | G/A | 2.87e-03 |
exon_skip_362915 | 21 | 47731369:47731481:47734629:47734963:47735387:47735461 | 47734629:47734963 | ENST00000397679.1,ENST00000397680.1,ENST00000397682.3,ENST00000397683.1 | PRAD | rs13047478 | chr21:47734659 | G/A | 2.87e-03 |
exon_skip_362915 | 21 | 47731369:47731481:47734629:47734963:47735387:47735461 | 47734629:47734963 | ENST00000397679.1,ENST00000397680.1,ENST00000397682.3,ENST00000397683.1 | THCA | rs13047478 | chr21:47734659 | G/A | 1.18e-04 |
exon_skip_362915 | 21 | 47731369:47731481:47734629:47734963:47735387:47735461 | 47734629:47734963 | ENST00000397679.1,ENST00000397680.1,ENST00000397682.3,ENST00000397683.1 | THCA | rs13047478 | chr21:47734659 | G/A | 1.18e-04 |
exon_skip_362908 | 21 | 47720424:47720639:47721910:47722068:47722398:47722490 | 47721910:47722068 | ENST00000417060.1 | KIRC | rs71318063 | chr21:47721985 | A/ATGG | 2.98e-03 |
exon_skip_362908 | 21 | 47720424:47720639:47721910:47722068:47722398:47722490 | 47721910:47722068 | ENST00000417060.1 | THCA | rs71318063 | chr21:47721985 | A/ATGG | 3.90e-05 |
exon_skip_362908 | 21 | 47720424:47720639:47721910:47722068:47722398:47722490 | 47721910:47722068 | ENST00000417060.1 | THCA | rs71318063 | chr21:47721985 | A/ATGG | 3.90e-05 |
Top |
Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for C21orf58 |
Top |
Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for C21orf58 |
Top |
RelatedDrugs for C21orf58 |
Approved drugs targeting this gene. (DrugBank Version 5.1.0 2018-04-02) |
Gene | UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
Top |
RelatedDiseases for C21orf58 |
Diseases associated with this gene. (DisGeNet 4.0) |
Gene | Disease ID | Disease name | # pubmeds | Source |