|
||||||
|
 | |
| |
| |
| |
| 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 ZCCHC17 |
 Gene summary |
| Gene information | Gene symbol | ZCCHC17 | Gene ID | 51538 |
| Gene name | zinc finger CCHC-type containing 17 | |
| Synonyms | HSPC251|PS1D|pNO40 | |
| Cytomap | 1p35.2 | |
| Type of gene | protein-coding | |
| Description | nucleolar protein of 40 kDanucleolar protein 40pnn-interacting nucleolar proteinputative S1 RNA binding domain proteinzinc finger CCHC domain-containing protein 17zinc finger, CCHC domain containing 17 | |
| Modification date | 20180522 | |
| UniProtAcc | Q9NP64 | |
| Context | PubMed: ZCCHC17 [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 ZCCHC17 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 ZCCHC17 |
| Expression levels of gene isoforms across TCGA. |
 |
| Expression levels of gene isoforms across GTEx. |
 |
Top |
Exon skipping events with PSIs in TCGA for ZCCHC17 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_3568 | 1 | 31769882:31769922:31782890:31783011:31791013:31791083 | 31782890:31783011 | ENSG00000121766.10 | ENST00000479629.1,ENST00000546109.1 |
| exon_skip_3572 | 1 | 31769882:31769922:31791955:31792013:31810021:31810122 | 31791955:31792013 | ENSG00000121766.10 | ENST00000422613.2 |
| exon_skip_3573 | 1 | 31769893:31769943:31782890:31783011:31791955:31792013 | 31782890:31783011 | ENSG00000121766.10 | ENST00000490049.1 |
| exon_skip_3574 | 1 | 31769854:31770060:31782890:31783011:31791955:31792013 | 31782890:31783011 | ENSG00000121766.10 | ENST00000373714.1 |
| exon_skip_3575 | 1 | 31782890:31783011:31791013:31791083:31791955:31792013 | 31791013:31791083 | ENSG00000121766.10 | ENST00000479629.1,ENST00000546109.1 |
| exon_skip_3577 | 1 | 31782890:31783011:31791955:31792013:31810021:31810122 | 31791955:31792013 | ENSG00000121766.10 | ENST00000373714.1,ENST00000344147.5,ENST00000490049.1 |
| exon_skip_3579 | 1 | 31791955:31792013:31810021:31810122:31811803:31811808 | 31810021:31810122 | ENSG00000121766.10 | ENST00000479629.1,ENST00000546109.1,ENST00000373714.1,ENST00000344147.5,ENST00000490049.1,ENST00000422613.2 |
| exon_skip_3585 | 1 | 31810021:31810122:31811803:31811895:31819486:31819587 | 31811803:31811895 | ENSG00000121766.10 | ENST00000479629.1,ENST00000546109.1,ENST00000373714.1,ENST00000344147.5,ENST00000422613.2 |
| exon_skip_3587 | 1 | 31811803:31811895:31819486:31819587:31821675:31821815 | 31819486:31819587 | ENSG00000121766.10 | ENST00000479629.1,ENST00000546109.1,ENST00000373714.1,ENST00000344147.5 |
| exon_skip_3596 | 1 | 31819486:31819587:31821675:31821821:31836878:31837036 | 31821675:31821821 | ENSG00000121766.10 | ENST00000546109.1,ENST00000373714.1,ENST00000344147.5 |
| PSI values of skipped exons in TCGA. |
 |
Top |
Exon skipping events with PSIs in GTEx for ZCCHC17 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_3568 | 1 | 31769882:31769922:31782890:31783011:31791013:31791083 | 31782890:31783011 | ENSG00000121766.10 | ENST00000479629.1,ENST00000546109.1 |
| exon_skip_3572 | 1 | 31769882:31769922:31791955:31792013:31810021:31810122 | 31791955:31792013 | ENSG00000121766.10 | ENST00000422613.2 |
| exon_skip_3573 | 1 | 31769893:31769943:31782890:31783011:31791955:31792013 | 31782890:31783011 | ENSG00000121766.10 | ENST00000490049.1 |
| exon_skip_3574 | 1 | 31769854:31770060:31782890:31783011:31791955:31792013 | 31782890:31783011 | ENSG00000121766.10 | ENST00000373714.1 |
| exon_skip_3575 | 1 | 31782890:31783011:31791013:31791083:31791955:31792013 | 31791013:31791083 | ENSG00000121766.10 | ENST00000479629.1,ENST00000546109.1 |
| exon_skip_3577 | 1 | 31782890:31783011:31791955:31792013:31810021:31810122 | 31791955:31792013 | ENSG00000121766.10 | ENST00000344147.5,ENST00000373714.1,ENST00000490049.1 |
| exon_skip_3579 | 1 | 31791955:31792013:31810021:31810122:31811803:31811808 | 31810021:31810122 | ENSG00000121766.10 | ENST00000344147.5,ENST00000479629.1,ENST00000373714.1,ENST00000546109.1,ENST00000422613.2,ENST00000490049.1 |
| exon_skip_3585 | 1 | 31810021:31810122:31811803:31811895:31819486:31819587 | 31811803:31811895 | ENSG00000121766.10 | ENST00000344147.5,ENST00000479629.1,ENST00000373714.1,ENST00000546109.1,ENST00000422613.2 |
| exon_skip_3587 | 1 | 31811803:31811895:31819486:31819587:31821675:31821815 | 31819486:31819587 | ENSG00000121766.10 | ENST00000344147.5,ENST00000479629.1,ENST00000373714.1,ENST00000546109.1 |
| exon_skip_3591 | 1 | 31811803:31811895:31819486:31819665:31821675:31821815 | 31819486:31819665 | ENSG00000121766.10 | ENST00000422613.2 |
| exon_skip_3596 | 1 | 31819486:31819587:31821675:31821821:31836878:31837036 | 31821675:31821821 | ENSG00000121766.10 | ENST00000344147.5,ENST00000373714.1,ENST00000546109.1 |
| PSI values of skipped exons in GTEx. |
 |
| * Skipped exon sequences. |
Top |
Open reading frame (ORF) annotation in the exon skipping event for ZCCHC17 |
| 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 |
| ENST00000373714 | 31782890 | 31783011 | 5CDS-5UTR |
| ENST00000344147 | 31791955 | 31792013 | Frame-shift |
| ENST00000373714 | 31791955 | 31792013 | Frame-shift |
| ENST00000344147 | 31810021 | 31810122 | Frame-shift |
| ENST00000373714 | 31810021 | 31810122 | Frame-shift |
| ENST00000344147 | 31811803 | 31811895 | Frame-shift |
| ENST00000373714 | 31811803 | 31811895 | Frame-shift |
| ENST00000344147 | 31819486 | 31819587 | Frame-shift |
| ENST00000373714 | 31819486 | 31819587 | Frame-shift |
| ENST00000344147 | 31821675 | 31821821 | Frame-shift |
| ENST00000373714 | 31821675 | 31821821 | Frame-shift |
| 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 |
| ENST00000373714 | 31782890 | 31783011 | 5CDS-5UTR |
| ENST00000344147 | 31791955 | 31792013 | Frame-shift |
| ENST00000373714 | 31791955 | 31792013 | Frame-shift |
| ENST00000344147 | 31810021 | 31810122 | Frame-shift |
| ENST00000373714 | 31810021 | 31810122 | Frame-shift |
| ENST00000344147 | 31811803 | 31811895 | Frame-shift |
| ENST00000373714 | 31811803 | 31811895 | Frame-shift |
| ENST00000344147 | 31819486 | 31819587 | Frame-shift |
| ENST00000373714 | 31819486 | 31819587 | Frame-shift |
| ENST00000344147 | 31821675 | 31821821 | Frame-shift |
| ENST00000373714 | 31821675 | 31821821 | Frame-shift |
Top |
Infer the effects of exon skipping event on protein functional features for ZCCHC17 |
| 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 |
| 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 |
| 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 |
| 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 |
Top |
SNVs in the skipped exons for ZCCHC17 |
| - 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-DD-A3A0-01 | exon_skip_3573 exon_skip_3574 exon_skip_3568 | 31782891 | 31783011 | 31782974 | 31782974 | Frame_Shift_Del | A | - | p.E10fs |
| LIHC | TCGA-DD-A1EG-01 | exon_skip_3572 exon_skip_3577 | 31791956 | 31792013 | 31791989 | 31791989 | Frame_Shift_Del | A | - | p.K34fs |
| BRCA | TCGA-A2-A0YK-01 | exon_skip_3585 | 31811804 | 31811895 | 31811816 | 31811816 | Nonsense_Mutation | A | T | p.R80* |
| GBM | TCGA-14-0790-01 | exon_skip_3579 | 31810022 | 31810122 | 31810124 | 31810125 | Splice_Site | - | A | p.E75_splice |
| - Depth of coverage in the three exons composing exon skipping event |
| Depth of coverage in three exons | Mutation description |
| - 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 |
| JHOS4_OVARY | 31791956 | 31792013 | 31791975 | 31791975 | Missense_Mutation | A | G | p.Y29C |
| EN_ENDOMETRIUM | 31791956 | 31792013 | 31791999 | 31791999 | Missense_Mutation | G | C | p.G37A |
| OVSAHO_OVARY | 31810022 | 31810122 | 31810034 | 31810034 | Missense_Mutation | G | A | p.R46Q |
| LOUCY_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 31811804 | 31811895 | 31811843 | 31811843 | Missense_Mutation | G | T | p.V89F |
| BICR18_UPPER_AERODIGESTIVE_TRACT | 31811804 | 31811895 | 31811888 | 31811888 | Missense_Mutation | A | G | p.I104V |
| HPBALL_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 31819487 | 31819587 | 31819497 | 31819497 | Missense_Mutation | A | G | p.R110G |
| MOLT16_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 31819487 | 31819587 | 31819501 | 31819501 | Missense_Mutation | G | A | p.R111Q |
| SHP77_LUNG | 31819487 | 31819587 | 31819522 | 31819522 | Missense_Mutation | A | G | p.Y118C |
| KARPAS45_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 31819487 | 31819587 | 31819578 | 31819578 | Missense_Mutation | G | T | p.G137C |
| NCIH226_LUNG | 31821676 | 31821821 | 31821711 | 31821711 | Missense_Mutation | G | T | p.G152W |
| CMLT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 31821676 | 31821821 | 31821759 | 31821759 | Missense_Mutation | G | A | p.A168T |
| HEC108_ENDOMETRIUM | 31821676 | 31821821 | 31821784 | 31821784 | Missense_Mutation | C | A | p.P176H |
Top |
Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for ZCCHC17 |
| 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 |
Top |
Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for ZCCHC17 |
Top |
Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for ZCCHC17 |
Top |
RelatedDrugs for ZCCHC17 |
| 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 ZCCHC17 |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
Copyright 2018-Present -The University of Texas Health Science Center at Houston (UTHealth)
|