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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 CUL7 |
Gene summary |
| Gene information | Gene symbol | CUL7 | Gene ID | 9820 |
| Gene name | cullin 7 | |
| Synonyms | 3M1|CUL-7|KIAA0076|dJ20C7.5 | |
| Cytomap | 6p21.1 | |
| Type of gene | protein-coding | |
| Description | cullin-7 | |
| Modification date | 20180519 | |
| UniProtAcc | Q14999 | |
| Context | PubMed: CUL7 [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 |
| CUL7 | GO:0001837 | epithelial to mesenchymal transition | 20139075 |
| CUL7 | GO:0001890 | placenta development | 20139075 |
| CUL7 | GO:0016567 | protein ubiquitination | 18498745 |
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Exon skipping events across known transcript of Ensembl for CUL7 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 CUL7 |
Expression levels of gene isoforms across TCGA. |
Expression levels of gene isoforms across GTEx. |
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Exon skipping events with PSIs in TCGA for CUL7 |
Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_459636 | 6 | 43006004:43006210:43006303:43006430:43006579:43006725 | 43006303:43006430 | ENSG00000044090.4 | ENST00000535468.1,ENST00000265348.3 |
| exon_skip_459642 | 6 | 43006579:43006725:43007893:43008164:43008267:43008484 | 43007893:43008164 | ENSG00000044090.4 | ENST00000535468.1,ENST00000265348.3 |
| exon_skip_459644 | 6 | 43008652:43008813:43010539:43010722:43010811:43010918 | 43010539:43010722 | ENSG00000044090.4 | ENST00000535468.1,ENST00000265348.3 |
| exon_skip_459647 | 6 | 43010811:43010918:43011185:43011368:43012489:43012623 | 43011185:43011368 | ENSG00000044090.4 | ENST00000535468.1,ENST00000265348.3 |
| exon_skip_459651 | 6 | 43012489:43012623:43012964:43013140:43013324:43013420 | 43012964:43013140 | ENSG00000044090.4 | ENST00000535468.1,ENST00000265348.3 |
| exon_skip_459653 | 6 | 43013973:43014145:43014248:43014339:43014617:43014845 | 43014248:43014339 | ENSG00000044090.4 | ENST00000478630.1,ENST00000535468.1,ENST00000265348.3 |
| exon_skip_459659 | 6 | 43014617:43014845:43015684:43015727:43015885:43015898 | 43015684:43015727 | ENSG00000044090.4 | ENST00000478630.1 |
| exon_skip_459660 | 6 | 43014617:43014845:43015885:43015991:43016069:43016307 | 43015885:43015991 | ENSG00000044090.4 | ENST00000535468.1,ENST00000265348.3 |
| exon_skip_459662 | 6 | 43017700:43017897:43017997:43018136:43018705:43019206 | 43017997:43018136 | ENSG00000044090.4 | ENST00000535468.1,ENST00000265348.3 |
PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for CUL7 |
Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_459636 | 6 | 43006004:43006210:43006303:43006430:43006579:43006725 | 43006303:43006430 | ENSG00000044090.4 | ENST00000265348.3,ENST00000535468.1 |
| exon_skip_459642 | 6 | 43006579:43006725:43007893:43008164:43008267:43008484 | 43007893:43008164 | ENSG00000044090.4 | ENST00000265348.3,ENST00000535468.1 |
| exon_skip_459644 | 6 | 43008652:43008813:43010539:43010722:43010811:43010918 | 43010539:43010722 | ENSG00000044090.4 | ENST00000265348.3,ENST00000535468.1 |
| exon_skip_459647 | 6 | 43010811:43010918:43011185:43011368:43012489:43012623 | 43011185:43011368 | ENSG00000044090.4 | ENST00000265348.3,ENST00000535468.1 |
| exon_skip_459651 | 6 | 43012489:43012623:43012964:43013140:43013324:43013420 | 43012964:43013140 | ENSG00000044090.4 | ENST00000265348.3,ENST00000535468.1 |
| exon_skip_459653 | 6 | 43013973:43014145:43014248:43014339:43014617:43014845 | 43014248:43014339 | ENSG00000044090.4 | ENST00000265348.3,ENST00000535468.1,ENST00000478630.1 |
| exon_skip_459659 | 6 | 43014617:43014845:43015684:43015727:43015885:43015898 | 43015684:43015727 | ENSG00000044090.4 | ENST00000478630.1 |
| exon_skip_459660 | 6 | 43014617:43014845:43015885:43015991:43016069:43016307 | 43015885:43015991 | ENSG00000044090.4 | ENST00000265348.3,ENST00000535468.1 |
| exon_skip_459662 | 6 | 43017700:43017897:43017997:43018136:43018705:43019206 | 43017997:43018136 | ENSG00000044090.4 | ENST00000265348.3,ENST00000535468.1 |
PSI values of skipped exons in GTEx. |
| * Skipped exon sequences. |
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Open reading frame (ORF) annotation in the exon skipping event for CUL7 |
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 |
| ENST00000265348 | 43006303 | 43006430 | Frame-shift |
| ENST00000265348 | 43007893 | 43008164 | Frame-shift |
| ENST00000265348 | 43012964 | 43013140 | Frame-shift |
| ENST00000265348 | 43014248 | 43014339 | Frame-shift |
| ENST00000265348 | 43015885 | 43015991 | Frame-shift |
| ENST00000265348 | 43017997 | 43018136 | Frame-shift |
| ENST00000265348 | 43010539 | 43010722 | In-frame |
| ENST00000265348 | 43011185 | 43011368 | 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 |
| ENST00000265348 | 43006303 | 43006430 | Frame-shift |
| ENST00000265348 | 43007893 | 43008164 | Frame-shift |
| ENST00000265348 | 43012964 | 43013140 | Frame-shift |
| ENST00000265348 | 43014248 | 43014339 | Frame-shift |
| ENST00000265348 | 43015885 | 43015991 | Frame-shift |
| ENST00000265348 | 43017997 | 43018136 | Frame-shift |
| ENST00000265348 | 43010539 | 43010722 | In-frame |
| ENST00000265348 | 43011185 | 43011368 | In-frame |
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Infer the effects of exon skipping event on protein functional features for CUL7 |
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 |
| ENST00000265348 | 5271 | 1698 | 43011185 | 43011368 | 3259 | 3441 | 1057 | 1118 |
| ENST00000265348 | 5271 | 1698 | 43010539 | 43010722 | 3549 | 3731 | 1154 | 1215 |
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 |
| ENST00000265348 | 5271 | 1698 | 43011185 | 43011368 | 3259 | 3441 | 1057 | 1118 |
| ENST00000265348 | 5271 | 1698 | 43010539 | 43010722 | 3549 | 3731 | 1154 | 1215 |
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 |
| Q14999 | 1057 | 1118 | 1 | 1698 | Chain | ID=PRO_0000119802;Note=Cullin-7 |
| Q14999 | 1154 | 1215 | 1 | 1698 | Chain | ID=PRO_0000119802;Note=Cullin-7 |
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 |
| Q14999 | 1057 | 1118 | 1 | 1698 | Chain | ID=PRO_0000119802;Note=Cullin-7 |
| Q14999 | 1154 | 1215 | 1 | 1698 | Chain | ID=PRO_0000119802;Note=Cullin-7 |
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SNVs in the skipped exons for CUL7 |
- Lollipop plot for presenting exon skipping associated SNVs.* Click on the image to enlarge it in a new window. |
- 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 |
| SARC | TCGA-IW-A3M5-01 | exon_skip_459636 | 43006304 | 43006430 | 43006382 | 43006385 | Frame_Shift_Del | TGTC | - | p.D1580fs |
| SARC | TCGA-IW-A3M5-01 | exon_skip_459636 | 43006304 | 43006430 | 43006382 | 43006385 | Frame_Shift_Del | TGTC | - | p.DM1580fs |
| LIHC | TCGA-DD-A39Y-01 | exon_skip_459642 | 43007894 | 43008164 | 43007923 | 43007923 | Frame_Shift_Del | A | - | p.L1506fs |
| LIHC | TCGA-DD-A39Y-01 | exon_skip_459642 | 43007894 | 43008164 | 43007958 | 43007958 | Frame_Shift_Del | G | - | p.P1494fs |
| LUAD | TCGA-55-8506-01 | exon_skip_459647 | 43011186 | 43011368 | 43011247 | 43011250 | Frame_Shift_Del | GTGA | - | p.TH1181fs |
| LIHC | TCGA-DD-A1EG-01 | exon_skip_459651 | 43012965 | 43013140 | 43013114 | 43013114 | Frame_Shift_Del | C | - | p.G1047fs |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_459651 | 43012965 | 43013140 | 43013114 | 43013114 | Frame_Shift_Del | C | - | p.G1047fs |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_459660 | 43015886 | 43015991 | 43015902 | 43015902 | Frame_Shift_Del | G | - | p.P802fs |
| LIHC | TCGA-DD-A39Y-01 | exon_skip_459660 | 43015886 | 43015991 | 43015912 | 43015912 | Frame_Shift_Del | G | - | p.L799fs |
| STAD | TCGA-BR-A4QL-01 | exon_skip_459662 | 43017998 | 43018136 | 43018130 | 43018130 | Frame_Shift_Del | A | - | p.W414fs |
| STAD | TCGA-BR-A4QL-01 | exon_skip_459662 | 43017998 | 43018136 | 43018130 | 43018130 | Frame_Shift_Del | A | - | p.W498fs |
| SKCM | TCGA-BF-A3DM-01 | exon_skip_459653 | 43014249 | 43014339 | 43014252 | 43014252 | Nonsense_Mutation | G | A | p.Q829X |
| SKCM | TCGA-BF-A3DM-01 | exon_skip_459653 | 43014249 | 43014339 | 43014252 | 43014252 | Nonsense_Mutation | G | A | p.Q913* |
| BRCA | TCGA-BH-A0DZ-01 | exon_skip_459644 | 43010540 | 43010722 | 43010724 | 43010724 | Splice_Site | T | G | e18-2 |
| COAD | TCGA-AD-5900-01 | exon_skip_459660 | 43015886 | 43015991 | 43015993 | 43015993 | Splice_Site | T | C | . |
- 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 |
| EW11_BONE | 43006304 | 43006430 | 43006419 | 43006420 | Frame_Shift_Del | CA | - | p.V1484fs |
| SKUT1_SOFT_TISSUE | 43006304 | 43006430 | 43006325 | 43006325 | Missense_Mutation | C | T | p.E1516K |
| HCC1806_BREAST | 43006304 | 43006430 | 43006325 | 43006325 | Missense_Mutation | C | T | p.E1516K |
| DAOY_CENTRAL_NERVOUS_SYSTEM | 43006304 | 43006430 | 43006414 | 43006414 | Missense_Mutation | C | A | p.S1486I |
| LS411N_LARGE_INTESTINE | 43007894 | 43008164 | 43007906 | 43007906 | Missense_Mutation | A | G | p.F1428L |
| NCIH1155_LUNG | 43007894 | 43008164 | 43008028 | 43008028 | Missense_Mutation | G | A | p.P1387L |
| HSC1_SKIN | 43007894 | 43008164 | 43008119 | 43008119 | Missense_Mutation | C | T | p.E1357K |
| KE39_STOMACH | 43007894 | 43008164 | 43008119 | 43008119 | Missense_Mutation | C | T | p.E1357K |
| LMSU_STOMACH | 43007894 | 43008164 | 43008119 | 43008119 | Missense_Mutation | C | T | p.E1357K |
| HEC1A_ENDOMETRIUM | 43007894 | 43008164 | 43008119 | 43008119 | Missense_Mutation | C | T | p.E1357K |
| LU99_LUNG | 43007894 | 43008164 | 43008119 | 43008119 | Missense_Mutation | C | T | p.E1357K |
| HEC1_ENDOMETRIUM | 43007894 | 43008164 | 43008119 | 43008119 | Missense_Mutation | C | T | p.E1357K |
| HEC1B_ENDOMETRIUM | 43007894 | 43008164 | 43008119 | 43008119 | Missense_Mutation | C | T | p.E1357K |
| KMS18_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 43007894 | 43008164 | 43008119 | 43008119 | Missense_Mutation | C | T | p.E1357K |
| JURKAT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 43010540 | 43010722 | 43010542 | 43010542 | Missense_Mutation | G | A | p.H1215Y |
| KCL22_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 43010540 | 43010722 | 43010674 | 43010674 | Missense_Mutation | G | A | p.R1171C |
| SNU1040_LARGE_INTESTINE | 43011186 | 43011368 | 43011194 | 43011194 | Missense_Mutation | G | T | p.P1116H |
| TOV21G_OVARY | 43011186 | 43011368 | 43011266 | 43011266 | Missense_Mutation | C | T | p.R1092Q |
| RS5_FIBROBLAST | 43011186 | 43011368 | 43011267 | 43011267 | Missense_Mutation | G | A | p.R1092W |
| RCCFG2_KIDNEY | 43011186 | 43011368 | 43011267 | 43011267 | Missense_Mutation | G | A | p.R1092W |
| HEC108_ENDOMETRIUM | 43011186 | 43011368 | 43011323 | 43011323 | Missense_Mutation | A | G | p.L1073P |
| SUPT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 43012965 | 43013140 | 43012992 | 43012992 | Missense_Mutation | C | T | p.R1004H |
| JURKAT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 43012965 | 43013140 | 43012997 | 43012997 | Missense_Mutation | C | A | p.E1002D |
| KMOE2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 43012965 | 43013140 | 43013122 | 43013122 | Missense_Mutation | T | A | p.I961F |
| EN_ENDOMETRIUM | 43015886 | 43015991 | 43015938 | 43015938 | Missense_Mutation | T | C | p.E706G |
| SAOS2_BONE | 43017998 | 43018136 | 43018104 | 43018104 | Missense_Mutation | C | G | p.W422C |
| DND41_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 43006304 | 43006430 | 43006373 | 43006373 | Nonsense_Mutation | G | A | p.Q1500* |
| CTV1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 43007894 | 43008164 | 43008119 | 43008119 | Nonsense_Mutation | C | A | p.E1357* |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for CUL7 |
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 |
| exon_skip_459659 | 6 | 43014617:43014845:43015684:43015727:43015885:43015898 | 43015684:43015727 | ENST00000478630.1 | SARC | rs1079325 | chr6:43015706 | G/A | 5.42e-05 |
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Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for CUL7 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for CUL7 |
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RelatedDrugs for CUL7 |
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 CUL7 |
Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
| CUL7 | C2678312 | Three M Syndrome 1 | 2 | UNIPROT |
| CUL7 | C0004352 | Autistic Disorder | 1 | CTD_human |
| CUL7 | C0007134 | Renal Cell Carcinoma | 1 | CTD_human |