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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 CSRNP1 |
 Gene summary |
| Gene information | Gene symbol | CSRNP1 | Gene ID | 64651 |
| Gene name | cysteine and serine rich nuclear protein 1 | |
| Synonyms | AXUD1|CSRNP-1|FAM130B|TAIP-3|URAX1 | |
| Cytomap | 3p22.2 | |
| Type of gene | protein-coding | |
| Description | cysteine/serine-rich nuclear protein 1AXIN1 up-regulated 1TGF-beta-induced apoptosis protein 3axin-1 up-regulated gene 1 protein | |
| Modification date | 20180519 | |
| UniProtAcc | Q96S65 | |
| Context | PubMed: CSRNP1 [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 CSRNP1 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 CSRNP1 |
| 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 CSRNP1 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_382502 | 3 | 39185457:39185535:39185627:39185942:39186487:39186747 | 39185627:39185942 | ENSG00000144655.10 | ENST00000514182.1,ENST00000273153.5 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for CSRNP1 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_382502 | 3 | 39185457:39185535:39185627:39185942:39186487:39186747 | 39185627:39185942 | ENSG00000144655.10 | ENST00000273153.5,ENST00000514182.1 |
| 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 CSRNP1 |
| 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 |
| ENST00000273153 | 39185627 | 39185942 | In-frame |
| ENST00000514182 | 39185627 | 39185942 | 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 |
| ENST00000273153 | 39185627 | 39185942 | In-frame |
| ENST00000514182 | 39185627 | 39185942 | In-frame |
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Infer the effects of exon skipping event on protein functional features for CSRNP1 |
| 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 |
| ENST00000273153 | 3165 | 589 | 39185627 | 39185942 | 644 | 958 | 155 | 260 |
| ENST00000514182 | 2610 | 589 | 39185627 | 39185942 | 572 | 886 | 155 | 260 |
| 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 |
| ENST00000273153 | 3165 | 589 | 39185627 | 39185942 | 644 | 958 | 155 | 260 |
| ENST00000514182 | 2610 | 589 | 39185627 | 39185942 | 572 | 886 | 155 | 260 |
| 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 |
| Q96S65 | 155 | 260 | 1 | 589 | Chain | ID=PRO_0000114786;Note=Cysteine/serine-rich nuclear protein 1 |
| Q96S65 | 155 | 260 | 1 | 589 | Chain | ID=PRO_0000114786;Note=Cysteine/serine-rich nuclear protein 1 |
| Q96S65 | 155 | 260 | 237 | 275 | Compositional bias | Note=Cys-rich |
| Q96S65 | 155 | 260 | 237 | 275 | Compositional bias | Note=Cys-rich |
| 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 |
| Q96S65 | 155 | 260 | 1 | 589 | Chain | ID=PRO_0000114786;Note=Cysteine/serine-rich nuclear protein 1 |
| Q96S65 | 155 | 260 | 1 | 589 | Chain | ID=PRO_0000114786;Note=Cysteine/serine-rich nuclear protein 1 |
| Q96S65 | 155 | 260 | 237 | 275 | Compositional bias | Note=Cys-rich |
| Q96S65 | 155 | 260 | 237 | 275 | Compositional bias | Note=Cys-rich |
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SNVs in the skipped exons for CSRNP1 |
| - 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 |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_382502 | 39185628 | 39185942 | 39185855 | 39185855 | Frame_Shift_Del | C | - | p.A185fs |
| LUSC | TCGA-60-2708-01 | exon_skip_382502 | 39185628 | 39185942 | 39185792 | 39185792 | Nonsense_Mutation | G | A | p.R206* |
| - 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 |
| JURKAT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 39185628 | 39185942 | 39185659 | 39185659 | Missense_Mutation | C | T | p.C250Y |
| MZ7MEL_SKIN | 39185628 | 39185942 | 39185744 | 39185744 | Missense_Mutation | C | T | p.E222K |
| RKO_LARGE_INTESTINE | 39185628 | 39185942 | 39185764 | 39185764 | Missense_Mutation | C | A | p.G215V |
| NCIH513_PLEURA | 39185628 | 39185942 | 39185794 | 39185794 | Missense_Mutation | C | A | p.R205L |
| 8305C_THYROID | 39185628 | 39185942 | 39185795 | 39185795 | Missense_Mutation | G | A | p.R205W |
| SN12C_KIDNEY | 39185628 | 39185942 | 39185843 | 39185843 | Missense_Mutation | C | A | p.A189S |
| D247MG_CENTRAL_NERVOUS_SYSTEM | 39185628 | 39185942 | 39185870 | 39185870 | Missense_Mutation | C | T | p.V180M |
| PC9_LUNG | 39185628 | 39185942 | 39185629 | 39185629 | Splice_Site | T | C | p.Q260R |
| PC14_LUNG | 39185628 | 39185942 | 39185629 | 39185629 | Splice_Site | T | C | p.Q260R |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for CSRNP1 |
| 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 CSRNP1 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for CSRNP1 |
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RelatedDrugs for CSRNP1 |
| 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 CSRNP1 |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
| CSRNP1 | C0007193 | Cardiomyopathy, Dilated | 1 | CTD_human |
Copyright 2018-Present -The University of Texas Health Science Center at Houston (UTHealth)
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