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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 CFHR5 |
 Gene summary |
| Gene information | Gene symbol | CFHR5 | Gene ID | 81494 |
| Gene name | complement factor H related 5 | |
| Synonyms | CFHL5|CFHR5D|FHR-5|FHR5 | |
| Cytomap | 1q31.3 | |
| Type of gene | protein-coding | |
| Description | complement factor H-related protein 5factor H-related protein 5 | |
| Modification date | 20180527 | |
| UniProtAcc | Q9BXR6 | |
| Context | PubMed: CFHR5 [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 |
| CFHR5 | GO:0032091 | negative regulation of protein binding | 23487775 |
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Exon skipping events across known transcript of Ensembl for CFHR5 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 CFHR5 |
| 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 CFHR5 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_15132 | 1 | 196965151:196965331:196967257:196967434:196971611:196971794 | 196967257:196967434 | ENSG00000134389.8 | ENST00000256785.4,ENST00000367414.5 |
| exon_skip_15134 | 1 | 196971611:196971794:196973790:196973973:196977616:196978804 | 196973790:196973973 | ENSG00000134389.8 | ENST00000256785.4,ENST00000367414.5 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for CFHR5 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| 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 CFHR5 |
| 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 |
| ENST00000256785 | 196967257 | 196967434 | In-frame |
| ENST00000256785 | 196973790 | 196973973 | 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 |
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Infer the effects of exon skipping event on protein functional features for CFHR5 |
| 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 |
| ENST00000256785 | 2827 | 569 | 196967257 | 196967434 | 1080 | 1256 | 323 | 382 |
| ENST00000256785 | 2827 | 569 | 196973790 | 196973973 | 1440 | 1622 | 443 | 504 |
| 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 |
| Q9BXR6 | 323 | 382 | 19 | 569 | Chain | ID=PRO_0000005900;Note=Complement factor H-related protein 5 |
| Q9BXR6 | 323 | 382 | 331 | 370 | Disulfide bond | Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00302 |
| Q9BXR6 | 323 | 382 | 359 | 381 | Disulfide bond | Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00302 |
| Q9BXR6 | 323 | 382 | 267 | 324 | Domain | Note=Sushi 5;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00302 |
| Q9BXR6 | 323 | 382 | 329 | 383 | Domain | Note=Sushi 6;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00302 |
| Q9BXR6 | 323 | 382 | 356 | 356 | Natural variant | ID=VAR_048819;Note=R->H;Dbxref=dbSNP:rs35662416 |
| Q9BXR6 | 323 | 382 | 379 | 379 | Natural variant | ID=VAR_063653;Note=Found in patients with atypical hemolytic uremic syndrome. V->L;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:20513133;Dbxref=dbSNP:rs111327589,PMID:20513133 |
| Q9BXR6 | 443 | 504 | 19 | 569 | Chain | ID=PRO_0000005900;Note=Complement factor H-related protein 5 |
| Q9BXR6 | 443 | 504 | 449 | 492 | Disulfide bond | Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00302 |
| Q9BXR6 | 443 | 504 | 478 | 503 | Disulfide bond | Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00302 |
| Q9BXR6 | 443 | 504 | 387 | 444 | Domain | Note=Sushi 7;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00302 |
| Q9BXR6 | 443 | 504 | 447 | 505 | Domain | Note=Sushi 8;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00302 |
| 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 CFHR5 |
| - 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_15132 | 196967258 | 196967434 | 196967301 | 196967301 | Frame_Shift_Del | A | - | p.I362fs |
| LIHC | TCGA-DD-A1EG-01 | exon_skip_15134 | 196973791 | 196973973 | 196973915 | 196973915 | Frame_Shift_Del | G | - | p.Q509fs |
| HNSC | TCGA-CN-5361-01 | exon_skip_15132 | 196967258 | 196967434 | 196967390 | 196967390 | Nonsense_Mutation | C | G | p.S392* |
| SKCM | TCGA-YD-A9TA-06 | exon_skip_15134 | 196973791 | 196973973 | 196973913 | 196973913 | Nonsense_Mutation | C | T | p.Q509* |
| - 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 |
| SNU324_PANCREAS | 196973791 | 196973973 | 196973811 | 196973811 | Frame_Shift_Del | C | - | p.P453fs |
| IM95_STOMACH | 196973791 | 196973973 | 196973810 | 196973811 | Frame_Shift_Ins | - | C | p.P451fs |
| NCIH2172_LUNG | 196967258 | 196967434 | 196967356 | 196967356 | Missense_Mutation | T | A | p.Y357N |
| KMRC3_KIDNEY | 196967258 | 196967434 | 196967358 | 196967359 | Missense_Mutation | CA | TG | p.R358G |
| LS411N_LARGE_INTESTINE | 196967258 | 196967434 | 196967360 | 196967360 | Missense_Mutation | G | A | p.R358K |
| NCIH513_PLEURA | 196967258 | 196967434 | 196967368 | 196967368 | Missense_Mutation | G | C | p.D361H |
| SNUC5_LARGE_INTESTINE | 196967258 | 196967434 | 196967417 | 196967417 | Missense_Mutation | C | A | p.P377H |
| CAL12T_LUNG | 196973791 | 196973973 | 196973796 | 196973796 | Missense_Mutation | A | G | p.T446A |
| MSTO211H_PLEURA | 196973791 | 196973973 | 196973871 | 196973871 | Missense_Mutation | G | T | p.G471W |
| HCT15_LARGE_INTESTINE | 196973791 | 196973973 | 196973878 | 196973878 | Missense_Mutation | C | T | p.T473I |
| 127399_SOFT_TISSUE | 196973791 | 196973973 | 196973884 | 196973884 | Missense_Mutation | C | T | p.T475M |
| HS274T_BREAST | 196973791 | 196973973 | 196973884 | 196973884 | Missense_Mutation | C | T | p.T475M |
| SNU1272_KIDNEY | 196973791 | 196973973 | 196973938 | 196973938 | Missense_Mutation | G | A | p.R493K |
| SW684_SOFT_TISSUE | 196973791 | 196973973 | 196973938 | 196973938 | Missense_Mutation | G | A | p.R493K |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for CFHR5 |
| 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 CFHR5 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for CFHR5 |
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RelatedDrugs for CFHR5 |
| 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 CFHR5 |
| 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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