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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 CAND1 |
 Gene summary |
| Gene information | Gene symbol | CAND1 | Gene ID | 55832 |
| Gene name | cullin associated and neddylation dissociated 1 | |
| Synonyms | TIP120|TIP120A | |
| Cytomap | 12q14.3-q15 | |
| Type of gene | protein-coding | |
| Description | cullin-associated NEDD8-dissociated protein 1TBP-interacting protein of 120 kDa Ap120 CAND1 | |
| Modification date | 20180523 | |
| UniProtAcc | Q86VP6 | |
| Context | PubMed: CAND1 [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 |
| CAND1 | GO:0010265 | SCF complex assembly | 15537541|21249194 |
| CAND1 | GO:0016567 | protein ubiquitination | 12609982|15537541|21249194 |
| CAND1 | GO:0030154 | cell differentiation | 10581176 |
| CAND1 | GO:0043086 | negative regulation of catalytic activity | 12609982 |
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Exon skipping events across known transcript of Ensembl for CAND1 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 CAND1 |
| 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 CAND1 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_85034 | 12 | 67675689:67675833:67686401:67686556:67688812:67688936 | 67686401:67686556 | ENSG00000111530.8 | ENST00000545606.1 |
| exon_skip_85035 | 12 | 67688812:67688936:67691186:67691443:67691527:67691628 | 67691186:67691443 | ENSG00000111530.8 | ENST00000535146.1,ENST00000540319.1,ENST00000545606.1 |
| exon_skip_85037 | 12 | 67696102:67696395:67698384:67698526:67698883:67699092 | 67698384:67698526 | ENSG00000111530.8 | ENST00000540319.1,ENST00000545606.1 |
| exon_skip_85042 | 12 | 67698384:67698526:67698883:67699092:67701176:67701272 | 67698883:67699092 | ENSG00000111530.8 | ENST00000540319.1 |
| exon_skip_85043 | 12 | 67698384:67698526:67698883:67700377:67701176:67701272 | 67698883:67700377 | ENSG00000111530.8 | ENST00000545606.1 |
| exon_skip_85050 | 12 | 67703680:67703850:67703931:67704096:67705472:67705580 | 67703931:67704096 | ENSG00000111530.8 | ENST00000544619.1,ENST00000545606.1 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for CAND1 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_85034 | 12 | 67675689:67675833:67686401:67686556:67688812:67688936 | 67686401:67686556 | ENSG00000111530.8 | ENST00000545606.1 |
| exon_skip_85035 | 12 | 67688812:67688936:67691186:67691443:67691527:67691628 | 67691186:67691443 | ENSG00000111530.8 | ENST00000545606.1,ENST00000535146.1,ENST00000540319.1 |
| exon_skip_85037 | 12 | 67696102:67696395:67698384:67698526:67698883:67699092 | 67698384:67698526 | ENSG00000111530.8 | ENST00000545606.1,ENST00000540319.1 |
| exon_skip_85042 | 12 | 67698384:67698526:67698883:67699092:67701176:67701272 | 67698883:67699092 | ENSG00000111530.8 | ENST00000540319.1 |
| exon_skip_85043 | 12 | 67698384:67698526:67698883:67700377:67701176:67701272 | 67698883:67700377 | ENSG00000111530.8 | ENST00000545606.1 |
| exon_skip_85050 | 12 | 67703680:67703850:67703931:67704096:67705472:67705580 | 67703931:67704096 | ENSG00000111530.8 | ENST00000545606.1,ENST00000544619.1 |
| 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 CAND1 |
| 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 |
| ENST00000545606 | 67686401 | 67686556 | Frame-shift |
| ENST00000545606 | 67691186 | 67691443 | Frame-shift |
| ENST00000545606 | 67698384 | 67698526 | Frame-shift |
| ENST00000545606 | 67698883 | 67700377 | In-frame |
| ENST00000545606 | 67703931 | 67704096 | 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 |
| ENST00000545606 | 67686401 | 67686556 | Frame-shift |
| ENST00000545606 | 67691186 | 67691443 | Frame-shift |
| ENST00000545606 | 67698384 | 67698526 | Frame-shift |
| ENST00000545606 | 67698883 | 67700377 | In-frame |
| ENST00000545606 | 67703931 | 67704096 | In-frame |
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Infer the effects of exon skipping event on protein functional features for CAND1 |
| 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 |
| ENST00000545606 | 11268 | 1230 | 67698883 | 67700377 | 1873 | 3366 | 478 | 976 |
| ENST00000545606 | 11268 | 1230 | 67703931 | 67704096 | 3633 | 3797 | 1065 | 1120 |
| 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 |
| ENST00000545606 | 11268 | 1230 | 67698883 | 67700377 | 1873 | 3366 | 478 | 976 |
| ENST00000545606 | 11268 | 1230 | 67703931 | 67704096 | 3633 | 3797 | 1065 | 1120 |
| 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 |
| 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 CAND1 |
| - 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. |
CAND1_HNSC_exon_skip_85043_psi_boxplot.png |
CAND1_LGG_exon_skip_85050_psi_boxplot.png |
CAND1_LIHC_exon_skip_85043_psi_boxplot.png |
CAND1_LIHC_exon_skip_85050_psi_boxplot.png |
CAND1_LUAD_exon_skip_85043_psi_boxplot.png |
| - 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-G3-A3CJ-01 | exon_skip_85042 | 67698884 | 67699092 | 67699042 | 67699042 | Frame_Shift_Del | T | - | p.F532fs |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_85043 | 67698884 | 67700377 | 67699042 | 67699042 | Frame_Shift_Del | T | - | p.F532fs |
| THCA | TCGA-EL-A4K7-01 | exon_skip_85043 | 67698884 | 67700377 | 67699720 | 67699721 | Frame_Shift_Del | TT | - | p.F759fs |
| THCA | TCGA-EL-A4K7-01 | exon_skip_85043 | 67698884 | 67700377 | 67700155 | 67700155 | Frame_Shift_Del | C | - | p.P903fs |
| LIHC | TCGA-DD-A39Y-01 | exon_skip_85043 | 67698884 | 67700377 | 67700171 | 67700171 | Frame_Shift_Del | T | - | p.L910fs |
| LIHC | TCGA-DD-A39Y-01 | exon_skip_85043 | 67698884 | 67700377 | 67700316 | 67700316 | Frame_Shift_Del | A | - | p.G956fs |
| LGG | TCGA-DU-6392-01 | exon_skip_85050 | 67703932 | 67704096 | 67703936 | 67703936 | Frame_Shift_Del | A | - | p.E1067fs |
| LIHC | TCGA-BC-A3KG-01 | exon_skip_85050 | 67703932 | 67704096 | 67703947 | 67703947 | Frame_Shift_Del | T | - | p.F1071fs |
| LIHC | TCGA-DD-A39Y-01 | exon_skip_85050 | 67703932 | 67704096 | 67703978 | 67703978 | Frame_Shift_Del | T | - | p.I1081fs |
| LGG | TCGA-DB-A4XF-01 | exon_skip_85050 | 67703932 | 67704096 | 67704094 | 67704094 | Frame_Shift_Del | A | - | p.I1119fs |
| LGG | TCGA-DB-A4XF-01 | exon_skip_85050 | 67703932 | 67704096 | 67704094 | 67704094 | Frame_Shift_Del | A | - | p.K1120fs |
| LIHC | TCGA-RC-A7SK-01 | exon_skip_85043 | 67698884 | 67700377 | 67699601 | 67699602 | Frame_Shift_Ins | - | T | p.I718fs |
| LIHC | TCGA-RC-A7SK-01 | exon_skip_85043 | 67698884 | 67700377 | 67699601 | 67699602 | Frame_Shift_Ins | - | T | p.T718fs |
| LUAD | TCGA-44-5644-01 | exon_skip_85043 | 67698884 | 67700377 | 67699690 | 67699691 | Frame_Shift_Ins | - | A | p.G748fs |
| UCEC | TCGA-AX-A0J0-01 | exon_skip_85035 | 67691187 | 67691443 | 67691341 | 67691341 | Nonsense_Mutation | G | T | p.E216* |
| STAD | TCGA-VQ-A8P2-01 | exon_skip_85037 | 67698385 | 67698526 | 67698442 | 67698442 | Nonsense_Mutation | C | T | p.R451* |
| STAD | TCGA-VQ-A8P2-01 | exon_skip_85037 | 67698385 | 67698526 | 67698442 | 67698442 | Nonsense_Mutation | C | T | p.R451X |
| LUAD | TCGA-50-6590-01 | exon_skip_85043 | 67698884 | 67700377 | 67699249 | 67699249 | Nonsense_Mutation | G | T | p.G601* |
| HNSC | TCGA-CV-7427-01 | exon_skip_85043 | 67698884 | 67700377 | 67699870 | 67699870 | Nonsense_Mutation | C | T | p.R808* |
| CHOL | TCGA-ZU-A8S4-01 | exon_skip_85043 | 67698884 | 67700377 | 67700164 | 67700164 | Nonsense_Mutation | C | T | p.Q906* |
| CHOL | TCGA-ZU-A8S4-01 | exon_skip_85043 | 67698884 | 67700377 | 67700164 | 67700164 | Nonsense_Mutation | C | T | p.Q906X |
| - Depth of coverage in the three exons composing exon skipping event |
| Depth of coverage in three exons | Mutation description |
 | Sample: TCGA-DB-A4XF-01 |
| Cancer type: LGG | |
| ESID: exon_skip_85050 | |
| Skipped exon start: 67703932 | |
| Skipped exon end: 67704096 | |
| Mutation start: 67704094 | |
| Mutation end: 67704094 | |
| Mutation type: Frame_Shift_Del | |
| Reference seq: A | |
| Mutation seq: - | |
| AAchange: p.I1119fs | |
| Sample: TCGA-DB-A4XF-01 |
| Cancer type: LGG | |
| ESID: exon_skip_85050 | |
| Skipped exon start: 67703932 | |
| Skipped exon end: 67704096 | |
| Mutation start: 67704094 | |
| Mutation end: 67704094 | |
| Mutation type: Frame_Shift_Del | |
| Reference seq: A | |
| Mutation seq: - | |
| AAchange: p.K1120fs | |
exon_skip_85050_LGG_TCGA-DB-A4XF-01.png | |
exon_skip_99152_LGG_TCGA-DB-A4XF-01.png | |
 | Sample: TCGA-DU-6392-01 |
| Cancer type: LGG | |
| ESID: exon_skip_85050 | |
| Skipped exon start: 67703932 | |
| Skipped exon end: 67704096 | |
| Mutation start: 67703936 | |
| Mutation end: 67703936 | |
| Mutation type: Frame_Shift_Del | |
| Reference seq: A | |
| Mutation seq: - | |
| AAchange: p.E1067fs | |
exon_skip_106946_LGG_TCGA-DU-6392-01.png | |
exon_skip_114879_LGG_TCGA-DU-6392-01.png | |
exon_skip_120606_LGG_TCGA-DU-6392-01.png | |
exon_skip_130417_LGG_TCGA-DU-6392-01.png | |
exon_skip_138304_LGG_TCGA-DU-6392-01.png | |
exon_skip_143841_LGG_TCGA-DU-6392-01.png | |
exon_skip_143843_LGG_TCGA-DU-6392-01.png | |
exon_skip_145922_LGG_TCGA-DU-6392-01.png | |
exon_skip_155098_LGG_TCGA-DU-6392-01.png | |
exon_skip_26359_LGG_TCGA-DU-6392-01.png | |
exon_skip_290929_LGG_TCGA-DU-6392-01.png | |
exon_skip_297109_LGG_TCGA-DU-6392-01.png | |
exon_skip_33957_LGG_TCGA-DU-6392-01.png | |
exon_skip_343170_LGG_TCGA-DU-6392-01.png | |
exon_skip_354191_LGG_TCGA-DU-6392-01.png | |
exon_skip_367235_LGG_TCGA-DU-6392-01.png | |
exon_skip_423495_LGG_TCGA-DU-6392-01.png | |
exon_skip_423582_LGG_TCGA-DU-6392-01.png | |
exon_skip_430528_LGG_TCGA-DU-6392-01.png | |
exon_skip_432953_LGG_TCGA-DU-6392-01.png | |
exon_skip_436589_LGG_TCGA-DU-6392-01.png | |
exon_skip_438105_LGG_TCGA-DU-6392-01.png | |
exon_skip_438310_LGG_TCGA-DU-6392-01.png | |
exon_skip_442085_LGG_TCGA-DU-6392-01.png | |
exon_skip_481046_LGG_TCGA-DU-6392-01.png | |
exon_skip_484517_LGG_TCGA-DU-6392-01.png | |
exon_skip_502736_LGG_TCGA-DU-6392-01.png | |
exon_skip_512614_LGG_TCGA-DU-6392-01.png | |
exon_skip_7508_LGG_TCGA-DU-6392-01.png | |
exon_skip_7509_LGG_TCGA-DU-6392-01.png | |
exon_skip_79467_LGG_TCGA-DU-6392-01.png | |
exon_skip_85050_LGG_TCGA-DU-6392-01.png | |
exon_skip_95050_LGG_TCGA-DU-6392-01.png | |
exon_skip_95053_LGG_TCGA-DU-6392-01.png | |
 | Sample: TCGA-CV-7427-01 |
| Cancer type: HNSC | |
| ESID: exon_skip_85043 | |
| Skipped exon start: 67698884 | |
| Skipped exon end: 67700377 | |
| Mutation start: 67699870 | |
| Mutation end: 67699870 | |
| Mutation type: Nonsense_Mutation | |
| Reference seq: C | |
| Mutation seq: T | |
| AAchange: p.R808* | |
exon_skip_351479_HNSC_TCGA-CV-7427-01.png | |
exon_skip_85043_HNSC_TCGA-CV-7427-01.png | |
| - 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 |
| NO10_CENTRAL_NERVOUS_SYSTEM | 67698884 | 67700377 | 67699133 | 67699133 | Frame_Shift_Del | C | - | p.T562fs |
| MFE319_ENDOMETRIUM | 67698884 | 67700377 | 67699257 | 67699257 | Frame_Shift_Del | T | - | p.N603fs |
| ISHIKAWAHERAKLIO02ER_ENDOMETRIUM | 67698884 | 67700377 | 67699692 | 67699692 | Frame_Shift_Del | G | - | p.Q748fs |
| MOLT4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 67698884 | 67700377 | 67699692 | 67699692 | Frame_Shift_Del | G | - | p.Q748fs |
| JHUEM1_ENDOMETRIUM | 67698884 | 67700377 | 67699720 | 67699720 | Frame_Shift_Del | T | - | p.F759fs |
| CW2_LARGE_INTESTINE | 67698884 | 67700377 | 67699481 | 67699482 | Frame_Shift_Ins | - | A | p.IK678fs |
| TGBC11TKB_STOMACH | 67698884 | 67700377 | 67699691 | 67699692 | Frame_Shift_Ins | - | G | p.QG748fs |
| TGBC11TKB_STOMACH | 67686402 | 67686556 | 67686523 | 67686523 | Missense_Mutation | A | G | p.T112A |
| TE4_OESOPHAGUS | 67686402 | 67686556 | 67686524 | 67686524 | Missense_Mutation | C | T | p.T112I |
| NCIH1385_LUNG | 67686402 | 67686556 | 67686547 | 67686547 | Missense_Mutation | G | T | p.A120S |
| DOV13_OVARY | 67691187 | 67691443 | 67691307 | 67691307 | Missense_Mutation | G | A | p.M204I |
| HS294T_SKIN | 67691187 | 67691443 | 67691307 | 67691307 | Missense_Mutation | G | A | p.M204I |
| HS618T_FIBROBLAST | 67691187 | 67691443 | 67691321 | 67691321 | Missense_Mutation | T | C | p.I209T |
| SNU407_LARGE_INTESTINE | 67698385 | 67698526 | 67698404 | 67698404 | Missense_Mutation | C | A | p.A438D |
| LK2_LUNG | 67698385 | 67698526 | 67698447 | 67698447 | Missense_Mutation | G | C | p.Q452H |
| NCIH1155_LUNG | 67698385 | 67698526 | 67698494 | 67698494 | Missense_Mutation | C | T | p.A468V |
| SUM149PT_BREAST | 67698884 | 67700377 | 67698889 | 67698889 | Missense_Mutation | A | G | p.I481V |
| SUM149PT_BREAST | 67698884 | 67699092 | 67698889 | 67698889 | Missense_Mutation | A | G | p.I481V |
| HEC108_ENDOMETRIUM | 67698884 | 67700377 | 67698931 | 67698931 | Missense_Mutation | A | G | p.I495V |
| HEC108_ENDOMETRIUM | 67698884 | 67699092 | 67698931 | 67698931 | Missense_Mutation | A | G | p.I495V |
| HT115_LARGE_INTESTINE | 67698884 | 67700377 | 67699099 | 67699099 | Missense_Mutation | C | T | p.R551C |
| MM127_SKIN | 67698884 | 67700377 | 67699136 | 67699136 | Missense_Mutation | C | T | p.P563L |
| L363_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 67698884 | 67700377 | 67699186 | 67699186 | Missense_Mutation | G | A | p.D580N |
| NCIH23_LUNG | 67698884 | 67700377 | 67699197 | 67699197 | Missense_Mutation | G | T | p.Q583H |
| HT115_LARGE_INTESTINE | 67698884 | 67700377 | 67699442 | 67699442 | Missense_Mutation | C | T | p.A665V |
| JOPACA1_PANCREAS | 67698884 | 67700377 | 67699481 | 67699481 | Missense_Mutation | T | C | p.I678T |
| OCUBM_BREAST | 67698884 | 67700377 | 67699482 | 67699482 | Missense_Mutation | A | G | p.I678M |
| IGR1_SKIN | 67698884 | 67700377 | 67699679 | 67699679 | Missense_Mutation | C | T | p.S744L |
| KYSE450_OESOPHAGUS | 67698884 | 67700377 | 67699741 | 67699741 | Missense_Mutation | A | T | p.T765S |
| NCIH650_LUNG | 67698884 | 67700377 | 67699767 | 67699767 | Missense_Mutation | G | T | p.M773I |
| SNU81_LARGE_INTESTINE | 67698884 | 67700377 | 67699777 | 67699777 | Missense_Mutation | C | T | p.R777C |
| EBC1_LUNG | 67698884 | 67700377 | 67699882 | 67699882 | Missense_Mutation | A | G | p.K812E |
| MKN1_STOMACH | 67698884 | 67700377 | 67699883 | 67699883 | Missense_Mutation | A | G | p.K812R |
| AGS_STOMACH | 67698884 | 67700377 | 67699926 | 67699926 | Missense_Mutation | G | T | p.K826N |
| 639V_URINARY_TRACT | 67698884 | 67700377 | 67699946 | 67699946 | Missense_Mutation | C | T | p.S833F |
| SNU1040_LARGE_INTESTINE | 67698884 | 67700377 | 67700126 | 67700126 | Missense_Mutation | C | T | p.P893L |
| KARPAS45_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 67698884 | 67700377 | 67700167 | 67700167 | Missense_Mutation | T | A | p.Y907N |
| KARPAS45_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 67698884 | 67700377 | 67700195 | 67700195 | Missense_Mutation | T | C | p.I916T |
| KARPAS45_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 67698884 | 67700377 | 67700230 | 67700230 | Missense_Mutation | T | C | p.Y928H |
| MDAMB415_BREAST | 67703932 | 67704096 | 67704007 | 67704007 | Missense_Mutation | A | C | p.T1091P |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for CAND1 |
| 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 CAND1 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for CAND1 |
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RelatedDrugs for CAND1 |
| 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 CAND1 |
| 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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