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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 CYP7B1 |
 Gene summary |
| Gene information | Gene symbol | CYP7B1 | Gene ID | 9420 |
| Gene name | cytochrome P450 family 7 subfamily B member 1 | |
| Synonyms | CBAS3|CP7B|SPG5A | |
| Cytomap | 8q12.3 | |
| Type of gene | protein-coding | |
| Description | 25-hydroxycholesterol 7-alpha-hydroxylasecytochrome P450 7B1cytochrome P450, subfamily VIIB (oxysterol 7 alpha-hydroxylase), polypeptide 1oxysterol 7-alpha-hydroxylase | |
| Modification date | 20180523 | |
| UniProtAcc | O75881 | |
| Context | PubMed: CYP7B1 [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 CYP7B1 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 CYP7B1 |
| 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 CYP7B1 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_490066 | 8 | 65517238:65517414:65527582:65527789:65528247:65528371 | 65527582:65527789 | ENSG00000172817.3 | ENST00000310193.3 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for CYP7B1 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_490066 | 8 | 65517238:65517414:65527582:65527789:65528247:65528371 | 65527582:65527789 | ENSG00000172817.3 | ENST00000310193.3 |
| 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 CYP7B1 |
| 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 |
| ENST00000310193 | 65527582 | 65527789 | 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 |
| ENST00000310193 | 65527582 | 65527789 | In-frame |
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Infer the effects of exon skipping event on protein functional features for CYP7B1 |
| 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 |
| ENST00000310193 | 2219 | 506 | 65527582 | 65527789 | 1025 | 1231 | 283 | 352 |
| 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 |
| ENST00000310193 | 2219 | 506 | 65527582 | 65527789 | 1025 | 1231 | 283 | 352 |
| 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 |
| O75881 | 283 | 352 | 1 | 506 | Chain | ID=PRO_0000051906;Note=25-hydroxycholesterol 7-alpha-hydroxylase |
| O75881 | 283 | 352 | 285 | 285 | Natural variant | ID=VAR_075510;Note=In SPG5A. H->L;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:21214876;Dbxref=dbSNP:rs750781606,PMID:21214876 |
| O75881 | 283 | 352 | 287 | 287 | Natural variant | ID=VAR_075511;Note=L->S;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:19439420;Dbxref=PMID:19439420 |
| O75881 | 283 | 352 | 297 | 297 | Natural variant | ID=VAR_075512;Note=In SPG5A. T->A;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:19439420,ECO:0000269|PubMed:21214876;Dbxref=dbSNP:rs587777222,PMID:19439420,PMID:21214876 |
| O75881 | 283 | 352 | 316 | 316 | Natural variant | ID=VAR_075513;Note=In SPG5A%3B unknown pathological significance. A->AA;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:24117163;Dbxref=PMID:24117163 |
| O75881 | 283 | 352 | 324 | 324 | Natural variant | ID=VAR_075514;Note=R->H;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:19439420,ECO:0000269|PubMed:26714052;Dbxref=dbSNP:rs59035258,PMID:19439420,PMID:26714052 |
| 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 |
| O75881 | 283 | 352 | 1 | 506 | Chain | ID=PRO_0000051906;Note=25-hydroxycholesterol 7-alpha-hydroxylase |
| O75881 | 283 | 352 | 285 | 285 | Natural variant | ID=VAR_075510;Note=In SPG5A. H->L;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:21214876;Dbxref=dbSNP:rs750781606,PMID:21214876 |
| O75881 | 283 | 352 | 287 | 287 | Natural variant | ID=VAR_075511;Note=L->S;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:19439420;Dbxref=PMID:19439420 |
| O75881 | 283 | 352 | 297 | 297 | Natural variant | ID=VAR_075512;Note=In SPG5A. T->A;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:19439420,ECO:0000269|PubMed:21214876;Dbxref=dbSNP:rs587777222,PMID:19439420,PMID:21214876 |
| O75881 | 283 | 352 | 316 | 316 | Natural variant | ID=VAR_075513;Note=In SPG5A%3B unknown pathological significance. A->AA;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:24117163;Dbxref=PMID:24117163 |
| O75881 | 283 | 352 | 324 | 324 | Natural variant | ID=VAR_075514;Note=R->H;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:19439420,ECO:0000269|PubMed:26714052;Dbxref=dbSNP:rs59035258,PMID:19439420,PMID:26714052 |
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SNVs in the skipped exons for CYP7B1 |
| - 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 |
| BRCA | TCGA-EW-A1J5-01 | exon_skip_490066 | 65527583 | 65527789 | 65527649 | 65527649 | Nonsense_Mutation | G | A | p.Q331* |
| UCS | TCGA-N8-A4PI-01 | exon_skip_490066 | 65527583 | 65527789 | 65527731 | 65527731 | Nonsense_Mutation | C | T | p.W303* |
| - 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 |
| PATU8902_PANCREAS | 65527583 | 65527789 | 65527615 | 65527615 | Missense_Mutation | G | A | p.T342I |
| SNU1105_CENTRAL_NERVOUS_SYSTEM | 65527583 | 65527789 | 65527621 | 65527621 | Missense_Mutation | T | C | p.H340R |
| MEWO_SKIN | 65527583 | 65527789 | 65527679 | 65527679 | Missense_Mutation | C | T | p.E321K |
| KMS26_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 65527583 | 65527789 | 65527705 | 65527705 | Missense_Mutation | G | T | p.P312Q |
| CCRFCEM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 65527583 | 65527789 | 65527711 | 65527711 | Missense_Mutation | C | T | p.R310Q |
| WSUNHL_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 65527583 | 65527789 | 65527711 | 65527711 | Missense_Mutation | C | T | p.R310Q |
| HT115_LARGE_INTESTINE | 65527583 | 65527789 | 65527712 | 65527712 | Missense_Mutation | G | A | p.R310W |
| SUPT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 65527583 | 65527789 | 65527712 | 65527712 | Missense_Mutation | G | A | p.R310W |
| NCIH838_LUNG | 65527583 | 65527789 | 65527748 | 65527748 | Missense_Mutation | T | G | p.I298L |
| FARAGE_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 65527583 | 65527789 | 65527759 | 65527759 | Missense_Mutation | A | G | p.V294A |
| SNU1040_LARGE_INTESTINE | 65527583 | 65527789 | 65527783 | 65527783 | Missense_Mutation | T | C | p.H286R |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for CYP7B1 |
| 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 CYP7B1 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for CYP7B1 |
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RelatedDrugs for CYP7B1 |
| 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 CYP7B1 |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
| CYP7B1 | C1849115 | SPASTIC PARAPLEGIA 5A, AUTOSOMAL RECESSIVE (disorder) | 4 | UNIPROT |
| CYP7B1 | C0001418 | Adenocarcinoma | 1 | CTD_human |
| CYP7B1 | C0008370 | Cholestasis | 1 | CTD_human |
| CYP7B1 | C0015695 | Fatty Liver | 1 | CTD_human |
| CYP7B1 | C0023772 | Lipid Metabolism, Inborn Errors | 1 | CTD_human |
| CYP7B1 | C0023895 | Liver diseases | 1 | CTD_human |
| CYP7B1 | C0033578 | Prostatic Neoplasms | 1 | CTD_human |
| CYP7B1 | C0037773 | Spastic Paraplegia, Hereditary | 1 | CTD_human |
| CYP7B1 | C2931356 | Spastic paraplegia type 5A, recessive | 1 | CTD_human;ORPHANET |
Copyright 2018-Present -The University of Texas Health Science Center at Houston (UTHealth)
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