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| Open reading frame (ORF) annotation in the exon skipping event |
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| Splicing Quantitative Trait Loci (sQTLs) in the skipped exons |
| Splicing Quantitative Trait Methylation (sQTM) in the skipped exon |
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Gene summary for CRISP3 |
 Gene summary |
| Gene information | Gene symbol | CRISP3 | Gene ID | 10321 |
| Gene name | cysteine rich secretory protein 3 | |
| Synonyms | Aeg2|CRISP-3|CRS3|SGP28|dJ442L6.3 | |
| Cytomap | 6p12.3 | |
| Type of gene | protein-coding | |
| Description | cysteine-rich secretory protein 3specific granule protein (28 kDa) | |
| Modification date | 20180523 | |
| UniProtAcc | P54108 | |
| Context | PubMed: CRISP3 [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 |
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Exon skipping events across known transcript of Ensembl for CRISP3 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. |
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Gene isoform structures and expression levels for CRISP3 |
| Expression levels of gene isoforms across TCGA. |
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| Expression levels of gene isoforms across GTEx. |
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Exon skipping events with PSIs in TCGA for CRISP3 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_460066 | 6 | 49696420:49696570:49698875:49698964:49700907:49701005 | 49698875:49698964 | ENSG00000096006.7 | ENST00000433368.2,ENST00000393666.1,ENST00000263045.4,ENST00000371159.4,ENST00000423399.2 |
| exon_skip_460070 | 6 | 49704103:49704220:49705037:49705141:49712043:49712088 | 49705037:49705141 | ENSG00000096006.7 | ENST00000433368.2,ENST00000354620.4 |
| exon_skip_460071 | 6 | 49704103:49704220:49705037:49705165:49712043:49712099 | 49705037:49705165 | ENSG00000096006.7 | ENST00000371159.4 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for CRISP3 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_460066 | 6 | 49696420:49696570:49698875:49698964:49700907:49701005 | 49698875:49698964 | ENSG00000096006.7 | ENST00000263045.4,ENST00000433368.2,ENST00000393666.1,ENST00000423399.2,ENST00000371159.4 |
| exon_skip_460070 | 6 | 49704103:49704220:49705037:49705141:49712043:49712088 | 49705037:49705141 | ENSG00000096006.7 | ENST00000433368.2,ENST00000354620.4 |
| exon_skip_460071 | 6 | 49704103:49704220:49705037:49705165:49712043:49712099 | 49705037:49705165 | ENSG00000096006.7 | ENST00000371159.4 |
| PSI values of skipped exons in GTEx. |
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| * Skipped exon sequences. |
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Open reading frame (ORF) annotation in the exon skipping event for CRISP3 |
| 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 |
| 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 |
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Infer the effects of exon skipping event on protein functional features for CRISP3 |
| Exon skipping at the protein sequence level and followed lost functional features. * Click on the image to enlarge it in a new window. |
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| 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 |
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SNVs in the skipped exons for CRISP3 |
| - Lollipop plot for presenting exon skipping associated SNVs. * Click on the image to enlarge it in a new window. |
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| - 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 |
| HNSC | TCGA-CV-7245-01 | exon_skip_460066 | 49698876 | 49698964 | 49698934 | 49698935 | Frame_Shift_Ins | - | G | p.L207fs |
| HNSC | TCGA-CV-7245-01 | exon_skip_460066 | 49698876 | 49698964 | 49698934 | 49698935 | Frame_Shift_Ins | - | G | p.P184fs |
| LUAD | TCGA-44-8120-01 | exon_skip_460066 | 49698876 | 49698964 | 49698955 | 49698956 | Frame_Shift_Ins | - | A | p.C200fs |
| BLCA | TCGA-PQ-A6FN-01 | exon_skip_460066 | 49698876 | 49698964 | 49698956 | 49698956 | Nonsense_Mutation | C | T | p.W200* |
| - 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 |
| A172_CENTRAL_NERVOUS_SYSTEM | 49698876 | 49698964 | 49698902 | 49698902 | Missense_Mutation | G | A | p.P195L |
| HEC1A_ENDOMETRIUM | 49698876 | 49698964 | 49698921 | 49698921 | Missense_Mutation | C | T | p.A189T |
| HEC1_ENDOMETRIUM | 49698876 | 49698964 | 49698921 | 49698921 | Missense_Mutation | C | T | p.A189T |
| MCC13_SKIN | 49698876 | 49698964 | 49698936 | 49698936 | Missense_Mutation | G | A | p.P184S |
| SNU349_KIDNEY | 49705038 | 49705141 | 49705055 | 49705055 | Missense_Mutation | G | T | p.P19T |
| SNU349_KIDNEY | 49705038 | 49705165 | 49705055 | 49705055 | Missense_Mutation | G | T | p.P19T |
| CHAGOK1_LUNG | 49705038 | 49705141 | 49705072 | 49705072 | Missense_Mutation | C | T | p.G13E |
| CHAGOK1_LUNG | 49705038 | 49705165 | 49705072 | 49705072 | Missense_Mutation | C | T | p.G13E |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for CRISP3 |
| 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 |
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Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for CRISP3 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for CRISP3 |
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RelatedDrugs for CRISP3 |
| 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 |
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RelatedDiseases for CRISP3 |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
| CRISP3 | C0000786 | Spontaneous abortion | 1 | CTD_human |
| CRISP3 | C0032987 | Ectopic Pregnancy | 1 | CTD_human |
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