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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 RNF44 |
 Gene summary |
| Gene information | Gene symbol | RNF44 | Gene ID | 22838 |
| Gene name | ring finger protein 44 | |
| Synonyms | - | |
| Cytomap | 5q35.2 | |
| Type of gene | protein-coding | |
| Description | RING finger protein 44 | |
| Modification date | 20180522 | |
| UniProtAcc | Q7L0R7 | |
| Context | PubMed: RNF44 [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 RNF44 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 RNF44 |
| 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 RNF44 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_446451 | 5 | 175955958:175956091:175956288:175956388:175956523:175956645 | 175956288:175956388 | ENSG00000146083.7 | ENST00000274811.4,ENST00000537487.1,ENST00000513029.1 |
| exon_skip_446453 | 5 | 175956731:175956819:175957082:175957207:175957582:175957611 | 175957082:175957207 | ENSG00000146083.7 | ENST00000274811.4,ENST00000537487.1,ENST00000513029.1,ENST00000506378.1 |
| exon_skip_446460 | 5 | 175957582:175957744:175957848:175958022:175958463:175958558 | 175957848:175958022 | ENSG00000146083.7 | ENST00000274811.4,ENST00000537487.1,ENST00000513029.1 |
| exon_skip_446463 | 5 | 175958463:175958631:175959004:175959130:175959366:175959517 | 175959004:175959130 | ENSG00000146083.7 | ENST00000504160.1 |
| exon_skip_446464 | 5 | 175958463:175958631:175959004:175959133:175959366:175959517 | 175959004:175959133 | ENSG00000146083.7 | ENST00000537487.1,ENST00000513029.1 |
| exon_skip_446465 | 5 | 175958463:175958631:175959004:175959194:175959366:175959517 | 175959004:175959194 | ENSG00000146083.7 | ENST00000274811.4 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for RNF44 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_446451 | 5 | 175955958:175956091:175956288:175956388:175956523:175956645 | 175956288:175956388 | ENSG00000146083.7 | ENST00000274811.4,ENST00000513029.1,ENST00000537487.1 |
| exon_skip_446453 | 5 | 175956731:175956819:175957082:175957207:175957582:175957611 | 175957082:175957207 | ENSG00000146083.7 | ENST00000274811.4,ENST00000506378.1,ENST00000513029.1,ENST00000537487.1 |
| exon_skip_446460 | 5 | 175957582:175957744:175957848:175958022:175958463:175958558 | 175957848:175958022 | ENSG00000146083.7 | ENST00000274811.4,ENST00000513029.1,ENST00000537487.1 |
| exon_skip_446463 | 5 | 175958463:175958631:175959004:175959130:175959366:175959517 | 175959004:175959130 | ENSG00000146083.7 | ENST00000504160.1 |
| exon_skip_446464 | 5 | 175958463:175958631:175959004:175959133:175959366:175959517 | 175959004:175959133 | ENSG00000146083.7 | ENST00000513029.1,ENST00000537487.1 |
| exon_skip_446465 | 5 | 175958463:175958631:175959004:175959194:175959366:175959517 | 175959004:175959194 | ENSG00000146083.7 | ENST00000274811.4 |
| 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 RNF44 |
| 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 |
| ENST00000274811 | 175956288 | 175956388 | Frame-shift |
| ENST00000274811 | 175957082 | 175957207 | Frame-shift |
| ENST00000274811 | 175959004 | 175959194 | Frame-shift |
| ENST00000274811 | 175957848 | 175958022 | 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 |
| ENST00000274811 | 175956288 | 175956388 | Frame-shift |
| ENST00000274811 | 175957082 | 175957207 | Frame-shift |
| ENST00000274811 | 175959004 | 175959194 | Frame-shift |
| ENST00000274811 | 175957848 | 175958022 | In-frame |
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Infer the effects of exon skipping event on protein functional features for RNF44 |
| 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 |
| ENST00000274811 | 4172 | 432 | 175957848 | 175958022 | 991 | 1164 | 155 | 213 |
| 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 |
| ENST00000274811 | 4172 | 432 | 175957848 | 175958022 | 991 | 1164 | 155 | 213 |
| 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 |
| Q7L0R7 | 155 | 213 | 1 | 432 | Chain | ID=PRO_0000273413;Note=RING finger protein 44 |
| Q7L0R7 | 155 | 213 | 12 | 321 | Compositional bias | Note=Pro-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 |
| Q7L0R7 | 155 | 213 | 1 | 432 | Chain | ID=PRO_0000273413;Note=RING finger protein 44 |
| Q7L0R7 | 155 | 213 | 12 | 321 | Compositional bias | Note=Pro-rich |
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SNVs in the skipped exons for RNF44 |
| - 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 |
| CESC | TCGA-FU-A40J-01 | exon_skip_446451 | 175956289 | 175956388 | 175956299 | 175956299 | Frame_Shift_Del | T | - | p.K409fs |
| COAD | TCGA-AD-5900-01 | exon_skip_446460 | 175957849 | 175958022 | 175957911 | 175957911 | Frame_Shift_Del | G | - | p.Q193fs |
| LIHC | TCGA-DD-A3A1-01 | exon_skip_446460 | 175957849 | 175958022 | 175957968 | 175957968 | Frame_Shift_Del | G | - | p.H174fs |
| LIHC | TCGA-DD-A39Y-01 | exon_skip_446465 | 175959005 | 175959194 | 175959175 | 175959175 | Frame_Shift_Del | G | - | p.L43fs |
| UCEC | TCGA-AP-A0LH-01 | exon_skip_446451 | 175956289 | 175956388 | 175956294 | 175956295 | Frame_Shift_Ins | - | C | p.L410fs |
| ACC | TCGA-OR-A5LJ-01 | exon_skip_446463 | 175959005 | 175959130 | 175959061 | 175959061 | Nonsense_Mutation | G | A | p.R81* |
| ACC | TCGA-OR-A5LJ-01 | exon_skip_446463 | 175959005 | 175959130 | 175959061 | 175959061 | Nonsense_Mutation | G | A | p.R81X |
| ACC | TCGA-OR-A5LJ-01 | exon_skip_446464 | 175959005 | 175959133 | 175959061 | 175959061 | Nonsense_Mutation | G | A | p.R81* |
| ACC | TCGA-OR-A5LJ-01 | exon_skip_446464 | 175959005 | 175959133 | 175959061 | 175959061 | Nonsense_Mutation | G | A | p.R81X |
| ACC | TCGA-OR-A5LJ-01 | exon_skip_446465 | 175959005 | 175959194 | 175959061 | 175959061 | Nonsense_Mutation | G | A | p.R81* |
| ACC | TCGA-OR-A5LJ-01 | exon_skip_446465 | 175959005 | 175959194 | 175959061 | 175959061 | Nonsense_Mutation | G | A | p.R81X |
| STAD | TCGA-BR-6852-01 | exon_skip_446463 | 175959005 | 175959130 | 175959004 | 175959004 | Splice_Site | C | T | p.Q99_splice |
| STAD | TCGA-BR-6852-01 | exon_skip_446464 | 175959005 | 175959133 | 175959004 | 175959004 | Splice_Site | C | T | p.Q99_splice |
| STAD | TCGA-BR-6852-01 | exon_skip_446465 | 175959005 | 175959194 | 175959004 | 175959004 | Splice_Site | C | T | p.Q99_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 |
| NCIH2286_LUNG | 175956289 | 175956388 | 175956382 | 175956383 | Frame_Shift_Del | CA | - | p.V382fs |
| SNU1_STOMACH | 175957849 | 175958022 | 175957911 | 175957911 | Frame_Shift_Del | G | - | p.Q193fs |
| IGROV1_OVARY | 175957849 | 175958022 | 175957911 | 175957911 | Frame_Shift_Del | G | - | p.Q193fs |
| OC314_OVARY | 175957849 | 175958022 | 175957911 | 175957911 | Frame_Shift_Del | G | - | p.Q193fs |
| RKO_LARGE_INTESTINE | 175957849 | 175958022 | 175957910 | 175957911 | Frame_Shift_Ins | - | G | p.Q193fs |
| BICR18_UPPER_AERODIGESTIVE_TRACT | 175956289 | 175956388 | 175956315 | 175956315 | Missense_Mutation | T | C | p.T404A |
| SBC1_LUNG | 175956289 | 175956388 | 175956357 | 175956357 | Missense_Mutation | G | A | p.R390W |
| BICR18_UPPER_AERODIGESTIVE_TRACT | 175956289 | 175956388 | 175956359 | 175956359 | Missense_Mutation | G | A | p.A389V |
| HEC1_ENDOMETRIUM | 175956289 | 175956388 | 175956372 | 175956372 | Missense_Mutation | T | C | p.S385G |
| DU145_PROSTATE | 175957083 | 175957207 | 175957140 | 175957140 | Missense_Mutation | G | T | p.P290Q |
| GP2D_LARGE_INTESTINE | 175957083 | 175957207 | 175957161 | 175957161 | Missense_Mutation | C | T | p.R283H |
| C33A_CERVIX | 175957849 | 175958022 | 175957905 | 175957905 | Missense_Mutation | T | G | p.T195P |
| OV17R_OVARY | 175957849 | 175958022 | 175957905 | 175957905 | Missense_Mutation | T | G | p.T195P |
| SISO_CERVIX | 175957849 | 175958022 | 175957905 | 175957905 | Missense_Mutation | T | G | p.T195P |
| A431_SKIN | 175957849 | 175958022 | 175957910 | 175957910 | Missense_Mutation | T | G | p.Q193P |
| EGI1_BILIARY_TRACT | 175957849 | 175958022 | 175957910 | 175957910 | Missense_Mutation | T | G | p.Q193P |
| GBM001_CENTRAL_NERVOUS_SYSTEM | 175957849 | 175958022 | 175957910 | 175957910 | Missense_Mutation | T | G | p.Q193P |
| MAC2A_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 175957849 | 175958022 | 175957910 | 175957910 | Missense_Mutation | T | G | p.Q193P |
| MERO82_LUNG | 175957849 | 175958022 | 175957910 | 175957910 | Missense_Mutation | T | G | p.Q193P |
| MM127_SKIN | 175957849 | 175958022 | 175957910 | 175957910 | Missense_Mutation | T | G | p.Q193P |
| NKL_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 175957849 | 175958022 | 175957910 | 175957910 | Missense_Mutation | T | G | p.Q193P |
| OV17R_OVARY | 175957849 | 175958022 | 175957910 | 175957910 | Missense_Mutation | T | G | p.Q193P |
| PACADD137_PANCREAS | 175957849 | 175958022 | 175957910 | 175957910 | Missense_Mutation | T | G | p.Q193P |
| PACADD165_PANCREAS | 175957849 | 175958022 | 175957910 | 175957910 | Missense_Mutation | T | G | p.Q193P |
| SISO_CERVIX | 175957849 | 175958022 | 175957910 | 175957910 | Missense_Mutation | T | G | p.Q193P |
| SUM149PT_BREAST | 175957849 | 175958022 | 175957910 | 175957910 | Missense_Mutation | T | G | p.Q193P |
| SW626_OVARY | 175957849 | 175958022 | 175957910 | 175957910 | Missense_Mutation | T | G | p.Q193P |
| CW2_LARGE_INTESTINE | 175957849 | 175958022 | 175957977 | 175957977 | Missense_Mutation | C | T | p.A171T |
| KYM1_SOFT_TISSUE | 175959005 | 175959130 | 175959034 | 175959034 | Missense_Mutation | T | C | p.S90G |
| KYM1_SOFT_TISSUE | 175959005 | 175959194 | 175959034 | 175959034 | Missense_Mutation | T | C | p.S90G |
| KYM1_SOFT_TISSUE | 175959005 | 175959133 | 175959034 | 175959034 | Missense_Mutation | T | C | p.S90G |
| MFE319_ENDOMETRIUM | 175959005 | 175959130 | 175959108 | 175959108 | Missense_Mutation | A | G | p.L65P |
| MFE319_ENDOMETRIUM | 175959005 | 175959194 | 175959108 | 175959108 | Missense_Mutation | A | G | p.L65P |
| MFE319_ENDOMETRIUM | 175959005 | 175959133 | 175959108 | 175959108 | Missense_Mutation | A | G | p.L65P |
| CTV1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 175959005 | 175959130 | 175959037 | 175959037 | Nonsense_Mutation | G | A | p.Q89* |
| CTV1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 175959005 | 175959194 | 175959037 | 175959037 | Nonsense_Mutation | G | A | p.Q89* |
| CTV1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 175959005 | 175959133 | 175959037 | 175959037 | Nonsense_Mutation | G | A | p.Q89* |
| MOLT4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 175959005 | 175959130 | 175959005 | 175959005 | Splice_Site | C | A | p.Q99H |
| MOLT4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 175959005 | 175959194 | 175959005 | 175959005 | Splice_Site | C | A | p.Q99H |
| MOLT4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 175959005 | 175959133 | 175959005 | 175959005 | Splice_Site | C | A | p.Q99H |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for RNF44 |
| 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 RNF44 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for RNF44 |
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RelatedDrugs for RNF44 |
| 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 RNF44 |
| 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)
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