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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 CIC |
 Gene summary |
| Gene information | Gene symbol | CIC | Gene ID | 23152 |
| Gene name | capicua transcriptional repressor | |
| Synonyms | MRD45 | |
| Cytomap | 19q13.2 | |
| Type of gene | protein-coding | |
| Description | protein capicua homolog | |
| Modification date | 20180523 | |
| UniProtAcc | Q96RK0 | |
| Context | PubMed: CIC [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 CIC 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 CIC |
| 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 CIC |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_307681 | 19 | 42791696:42791879:42791961:42792127:42793039:42793242 | 42791961:42792127 | ENSG00000079432.3 | ENST00000575354.2,ENST00000572681.2,ENST00000160740.3 |
| exon_skip_307688 | 19 | 42791961:42792127:42793039:42793242:42793332:42793379 | 42793039:42793242 | ENSG00000079432.3 | ENST00000575354.2,ENST00000572681.2,ENST00000160740.3 |
| exon_skip_307689 | 19 | 42793332:42793558:42793999:42794103:42794384:42794813 | 42793999:42794103 | ENSG00000079432.3 | ENST00000575354.2,ENST00000572681.2,ENST00000160740.3 |
| exon_skip_307695 | 19 | 42795425:42795618:42795709:42795897:42796237:42796359 | 42795709:42795897 | ENSG00000079432.3 | ENST00000575354.2,ENST00000572681.2,ENST00000160740.3 |
| exon_skip_307696 | 19 | 42796237:42796359:42796451:42796618:42796717:42796749 | 42796451:42796618 | ENSG00000079432.3 | ENST00000575354.2 |
| exon_skip_307697 | 19 | 42796237:42796359:42796451:42796618:42796720:42797011 | 42796451:42796618 | ENSG00000079432.3 | ENST00000572681.2,ENST00000160740.3 |
| exon_skip_307698 | 19 | 42798324:42798456:42798726:42798887:42798975:42799157 | 42798726:42798887 | ENSG00000079432.3 | ENST00000575287.1 |
| exon_skip_307699 | 19 | 42798324:42798456:42798755:42798887:42798975:42799157 | 42798755:42798887 | ENSG00000079432.3 | ENST00000575354.2,ENST00000572681.2,ENST00000160740.3 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for CIC |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_307681 | 19 | 42791696:42791879:42791961:42792127:42793039:42793242 | 42791961:42792127 | ENSG00000079432.3 | ENST00000572681.2,ENST00000160740.3,ENST00000575354.2 |
| exon_skip_307688 | 19 | 42791961:42792127:42793039:42793242:42793332:42793379 | 42793039:42793242 | ENSG00000079432.3 | ENST00000572681.2,ENST00000160740.3,ENST00000575354.2 |
| exon_skip_307689 | 19 | 42793332:42793558:42793999:42794103:42794384:42794813 | 42793999:42794103 | ENSG00000079432.3 | ENST00000572681.2,ENST00000160740.3,ENST00000575354.2 |
| exon_skip_307695 | 19 | 42795425:42795618:42795709:42795897:42796237:42796359 | 42795709:42795897 | ENSG00000079432.3 | ENST00000572681.2,ENST00000160740.3,ENST00000575354.2 |
| exon_skip_307696 | 19 | 42796237:42796359:42796451:42796618:42796717:42796749 | 42796451:42796618 | ENSG00000079432.3 | ENST00000575354.2 |
| exon_skip_307697 | 19 | 42796237:42796359:42796451:42796618:42796720:42797011 | 42796451:42796618 | ENSG00000079432.3 | ENST00000572681.2,ENST00000160740.3 |
| exon_skip_307698 | 19 | 42798324:42798456:42798726:42798887:42798975:42799157 | 42798726:42798887 | ENSG00000079432.3 | ENST00000575287.1 |
| exon_skip_307699 | 19 | 42798324:42798456:42798755:42798887:42798975:42799157 | 42798755:42798887 | ENSG00000079432.3 | ENST00000572681.2,ENST00000160740.3,ENST00000575354.2 |
| 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 CIC |
| 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 |
| ENST00000575354 | 42791961 | 42792127 | Frame-shift |
| ENST00000575354 | 42793039 | 42793242 | Frame-shift |
| ENST00000575354 | 42793999 | 42794103 | Frame-shift |
| ENST00000575354 | 42795709 | 42795897 | Frame-shift |
| ENST00000575354 | 42796451 | 42796618 | Frame-shift |
| ENST00000575354 | 42798755 | 42798887 | 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 |
| ENST00000575354 | 42791961 | 42792127 | Frame-shift |
| ENST00000575354 | 42793039 | 42793242 | Frame-shift |
| ENST00000575354 | 42793999 | 42794103 | Frame-shift |
| ENST00000575354 | 42795709 | 42795897 | Frame-shift |
| ENST00000575354 | 42796451 | 42796618 | Frame-shift |
| ENST00000575354 | 42798755 | 42798887 | In-frame |
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Infer the effects of exon skipping event on protein functional features for CIC |
| 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 |
| ENST00000575354 | 5490 | 1608 | 42798755 | 42798887 | 4368 | 4499 | 1442 | 1486 |
| 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 |
| ENST00000575354 | 5490 | 1608 | 42798755 | 42798887 | 4368 | 4499 | 1442 | 1486 |
| 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 |
| Q96RK0 | 1442 | 1486 | 1 | 1608 | Chain | ID=PRO_0000048598;Note=Protein capicua homolog |
| Q96RK0 | 1442 | 1486 | 353 | 1608 | Natural variant | ID=VAR_079294;Note=In MRD45%3B decreased protein expression. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:28288114;Dbxref=PMID:28288114 |
| Q96RK0 | 1442 | 1486 | 992 | 1608 | Natural variant | ID=VAR_079295;Note=In MRD45. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:28288114;Dbxref=PMID:28288114 |
| 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 |
| Q96RK0 | 1442 | 1486 | 1 | 1608 | Chain | ID=PRO_0000048598;Note=Protein capicua homolog |
| Q96RK0 | 1442 | 1486 | 353 | 1608 | Natural variant | ID=VAR_079294;Note=In MRD45%3B decreased protein expression. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:28288114;Dbxref=PMID:28288114 |
| Q96RK0 | 1442 | 1486 | 992 | 1608 | Natural variant | ID=VAR_079295;Note=In MRD45. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:28288114;Dbxref=PMID:28288114 |
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SNVs in the skipped exons for CIC |
| - 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. |
CIC_COAD_exon_skip_307695_psi_boxplot.png |
CIC_LGG_exon_skip_307688_psi_boxplot.png |
CIC_LIHC_exon_skip_307695_psi_boxplot.png |
CIC_LUAD_exon_skip_307695_psi_boxplot.png |
CIC_READ_exon_skip_307688_psi_boxplot.png |
CIC_STAD_exon_skip_307688_psi_boxplot.png |
CIC_STAD_exon_skip_307695_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 |
| LGG | TCGA-HT-7608-01 | exon_skip_307681 | 42791962 | 42792127 | 42792020 | 42792021 | Frame_Shift_Del | AG | - | p.K1185fs |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_307681 | 42791962 | 42792127 | 42792119 | 42792119 | Frame_Shift_Del | C | - | p.A1217fs |
| LGG | TCGA-S9-A7IY-01 | exon_skip_307688 | 42793040 | 42793242 | 42793116 | 42793116 | Frame_Shift_Del | T | - | p.C1245fs |
| LGG | TCGA-DB-A64L-01 | exon_skip_307688 | 42793040 | 42793242 | 42793215 | 42793218 | Frame_Shift_Del | CAGT | - | p.369_370del |
| LGG | TCGA-DB-A64L-01 | exon_skip_307688 | 42793040 | 42793242 | 42793215 | 42793218 | Frame_Shift_Del | CAGT | - | p.DS1278fs |
| LGG | TCGA-HT-8012-01 | exon_skip_307688 | 42793040 | 42793242 | 42793215 | 42793218 | Frame_Shift_Del | CAGT | - | p.369_370del |
| LGG | TCGA-HT-8012-01 | exon_skip_307688 | 42793040 | 42793242 | 42793215 | 42793218 | Frame_Shift_Del | CAGT | - | p.DS1278fs |
| LGG | TCGA-R8-A6MK-01 | exon_skip_307688 | 42793040 | 42793242 | 42793215 | 42793218 | Frame_Shift_Del | CAGT | - | p.DS1278fs |
| GBM | TCGA-27-2521-01 | exon_skip_307695 | 42795710 | 42795897 | 42795881 | 42795881 | Frame_Shift_Del | C | - | p.A957fs |
| LIHC | TCGA-DD-A1EG-01 | exon_skip_307695 | 42795710 | 42795897 | 42795886 | 42795886 | Frame_Shift_Del | C | - | p.P1869fs |
| LIHC | TCGA-DD-A39Y-01 | exon_skip_307695 | 42795710 | 42795897 | 42795886 | 42795886 | Frame_Shift_Del | C | - | p.P1869fs |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_307695 | 42795710 | 42795897 | 42795886 | 42795886 | Frame_Shift_Del | C | - | p.P1869fs |
| LGG | TCGA-S9-A7QZ-01 | exon_skip_307696 exon_skip_307697 | 42796452 | 42796618 | 42796461 | 42796462 | Frame_Shift_Del | TG | - | p.YV1915fs |
| OV | TCGA-13-0897-01 | exon_skip_307696 exon_skip_307697 | 42796452 | 42796618 | 42796462 | 42796474 | Frame_Shift_Del | GTGCAGTCAGCGG | - | p.V1007fs |
| LGG | TCGA-HT-8012-01 | exon_skip_307696 exon_skip_307697 | 42796452 | 42796618 | 42796554 | 42796555 | Frame_Shift_Del | TG | - | p.1037_1037del |
| LGG | TCGA-HT-8012-01 | exon_skip_307696 exon_skip_307697 | 42796452 | 42796618 | 42796554 | 42796555 | Frame_Shift_Del | TG | - | p.SV1946fs |
| LGG | TCGA-S9-A6U5-01 | exon_skip_307698 exon_skip_307699 | 42798727 | 42798887 | 42798857 | 42798858 | Frame_Shift_Del | CT | - | p.L2383fs |
| LGG | TCGA-S9-A6U5-01 | exon_skip_307698 exon_skip_307699 | 42798756 | 42798887 | 42798857 | 42798858 | Frame_Shift_Del | CT | - | p.L2383fs |
| ESCA | TCGA-JY-A93E-01 | exon_skip_307681 | 42791962 | 42792127 | 42792111 | 42792112 | Frame_Shift_Ins | - | GCTG | p.A306fs |
| ESCA | TCGA-JY-A93E-01 | exon_skip_307681 | 42791962 | 42792127 | 42792111 | 42792112 | Frame_Shift_Ins | - | GCTG | p.C1215fs |
| STAD | TCGA-CG-4442-01 | exon_skip_307688 | 42793040 | 42793242 | 42793161 | 42793162 | Frame_Shift_Ins | - | C | p.R351fs |
| STAD | TCGA-CG-4442-01 | exon_skip_307688 | 42793040 | 42793242 | 42793162 | 42793163 | Frame_Shift_Ins | - | C | p.R351fs |
| LGG | TCGA-R8-A6ML-01 | exon_skip_307695 | 42795710 | 42795897 | 42795743 | 42795744 | Frame_Shift_Ins | - | G | p.R1820fs |
| LUAD | TCGA-64-1680-01 | exon_skip_307695 | 42795710 | 42795897 | 42795823 | 42795824 | Frame_Shift_Ins | - | CC | p.R1847fs |
| TGCT | TCGA-2G-AAKL-01 | exon_skip_307695 | 42795710 | 42795897 | 42795827 | 42795828 | Frame_Shift_Ins | - | C | p.A1848fs |
| LGG | TCGA-CS-5394-01 | exon_skip_307698 exon_skip_307699 | 42798727 | 42798887 | 42798786 | 42798787 | Frame_Shift_Ins | - | A | p.L1453fs |
| LGG | TCGA-CS-5394-01 | exon_skip_307698 exon_skip_307699 | 42798727 | 42798887 | 42798786 | 42798787 | Frame_Shift_Ins | - | A | p.R2359fs |
| LGG | TCGA-CS-5394-01 | exon_skip_307698 exon_skip_307699 | 42798756 | 42798887 | 42798786 | 42798787 | Frame_Shift_Ins | - | A | p.L1453fs |
| LGG | TCGA-CS-5394-01 | exon_skip_307698 exon_skip_307699 | 42798756 | 42798887 | 42798786 | 42798787 | Frame_Shift_Ins | - | A | p.R2359fs |
| LGG | TCGA-FG-A60K-01 | exon_skip_307698 exon_skip_307699 | 42798727 | 42798887 | 42798816 | 42798817 | Frame_Shift_Ins | - | GCGG | p.L1463fs |
| LGG | TCGA-FG-A60K-01 | exon_skip_307698 exon_skip_307699 | 42798727 | 42798887 | 42798816 | 42798817 | Frame_Shift_Ins | - | GCGG | p.P2369fs |
| LGG | TCGA-FG-A60K-01 | exon_skip_307698 exon_skip_307699 | 42798756 | 42798887 | 42798816 | 42798817 | Frame_Shift_Ins | - | GCGG | p.L1463fs |
| LGG | TCGA-FG-A60K-01 | exon_skip_307698 exon_skip_307699 | 42798756 | 42798887 | 42798816 | 42798817 | Frame_Shift_Ins | - | GCGG | p.P2369fs |
| LGG | TCGA-S9-A6UB-01 | exon_skip_307681 | 42791962 | 42792127 | 42792003 | 42792003 | Nonsense_Mutation | G | A | p.W1178* |
| READ | TCGA-EI-6917-01 | exon_skip_307688 | 42793040 | 42793242 | 42793207 | 42793207 | Nonsense_Mutation | G | T | p.E367X |
| UCEC | TCGA-B5-A11E-01 | 42794000 | 42794103 | 42794092 | 42794092 | Nonsense_Mutation | G | T | p.E485* | |
| STAD | TCGA-CG-4465-01 | exon_skip_307695 | 42795710 | 42795897 | 42795871 | 42795871 | Nonsense_Mutation | C | T | p.Q954* |
| STAD | TCGA-CG-4465-01 | exon_skip_307695 | 42795710 | 42795897 | 42795871 | 42795871 | Nonsense_Mutation | C | T | p.Q954X |
| COAD | TCGA-CK-5913-01 | exon_skip_307695 | 42795710 | 42795897 | 42795709 | 42795709 | Splice_Site | G | A | . |
| LGG | TCGA-HT-7480-01 | exon_skip_307696 exon_skip_307697 | 42796452 | 42796618 | 42796451 | 42796451 | Splice_Site | G | T | . |
| - Depth of coverage in the three exons composing exon skipping event |
| Depth of coverage in three exons | Mutation description |
 | Sample: TCGA-HT-7480-01 |
| Cancer type: LGG | |
| ESID: exon_skip_307697 | |
| Skipped exon start: 42796452 | |
| Skipped exon end: 42796618 | |
| Mutation start: 42796451 | |
| Mutation end: 42796451 | |
| Mutation type: Splice_Site | |
| Reference seq: G | |
| Mutation seq: T | |
| AAchange: . | |
exon_skip_307696_LGG_TCGA-HT-7480-01.png | |
exon_skip_307697_LGG_TCGA-HT-7480-01.png | |
exon_skip_345839_LGG_TCGA-HT-7480-01.png | |
 | Sample: TCGA-HT-7480-01 |
| Cancer type: LGG | |
| ESID: exon_skip_307697 | |
| Skipped exon start: 42796452 | |
| Skipped exon end: 42796618 | |
| Mutation start: 42796451 | |
| Mutation end: 42796451 | |
| Mutation type: Splice_Site | |
| Reference seq: G | |
| Mutation seq: T | |
| AAchange: . | |
| exon_skip_307696_LGG_TCGA-HT-7480-01.png | |
| exon_skip_307697_LGG_TCGA-HT-7480-01.png | |
| exon_skip_345839_LGG_TCGA-HT-7480-01.png | |
 | Sample: TCGA-CK-5913-01 |
| Cancer type: COAD | |
| ESID: exon_skip_307695 | |
| Skipped exon start: 42795710 | |
| Skipped exon end: 42795897 | |
| Mutation start: 42795709 | |
| Mutation end: 42795709 | |
| Mutation type: Splice_Site | |
| Reference seq: G | |
| Mutation seq: A | |
| AAchange: . | |
exon_skip_108215_COAD_TCGA-CK-5913-01.png | |
exon_skip_152962_COAD_TCGA-CK-5913-01.png | |
exon_skip_284290_COAD_TCGA-CK-5913-01.png | |
exon_skip_304901_COAD_TCGA-CK-5913-01.png | |
exon_skip_307695_COAD_TCGA-CK-5913-01.png | |
exon_skip_346508_COAD_TCGA-CK-5913-01.png | |
exon_skip_347690_COAD_TCGA-CK-5913-01.png | |
exon_skip_3490_COAD_TCGA-CK-5913-01.png | |
 | Sample: TCGA-CG-4465-01 |
| Cancer type: STAD | |
| ESID: exon_skip_307695 | |
| Skipped exon start: 42795710 | |
| Skipped exon end: 42795897 | |
| Mutation start: 42795871 | |
| Mutation end: 42795871 | |
| Mutation type: Nonsense_Mutation | |
| Reference seq: C | |
| Mutation seq: T | |
| AAchange: p.Q954X | |
| Sample: TCGA-CG-4465-01 |
| Cancer type: STAD | |
| ESID: exon_skip_307695 | |
| Skipped exon start: 42795710 | |
| Skipped exon end: 42795897 | |
| Mutation start: 42795871 | |
| Mutation end: 42795871 | |
| Mutation type: Nonsense_Mutation | |
| Reference seq: C | |
| Mutation seq: T | |
| AAchange: p.Q954* | |
exon_skip_110606_STAD_TCGA-CG-4465-01.png | |
exon_skip_307695_STAD_TCGA-CG-4465-01.png | |
exon_skip_430686_STAD_TCGA-CG-4465-01.png | |
exon_skip_436589_STAD_TCGA-CG-4465-01.png | |
exon_skip_457139_STAD_TCGA-CG-4465-01.png | |
exon_skip_471970_STAD_TCGA-CG-4465-01.png | |
 | Sample: TCGA-R8-A6MK-01 |
| Cancer type: LGG | |
| ESID: exon_skip_307688 | |
| Skipped exon start: 42793040 | |
| Skipped exon end: 42793242 | |
| Mutation start: 42793215 | |
| Mutation end: 42793218 | |
| Mutation type: Frame_Shift_Del | |
| Reference seq: CAGT | |
| Mutation seq: - | |
| AAchange: p.DS1278fs | |
exon_skip_307688_LGG_TCGA-R8-A6MK-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 |
| SKMEL2_SKIN | 42791962 | 42792127 | 42792017 | 42792017 | Missense_Mutation | G | C | p.R274P |
| BICR18_UPPER_AERODIGESTIVE_TRACT | 42791962 | 42792127 | 42792046 | 42792046 | Missense_Mutation | A | G | p.T284A |
| KIJK_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 42793040 | 42793242 | 42793087 | 42793087 | Missense_Mutation | G | A | p.D327N |
| HCT15_LARGE_INTESTINE | 42793040 | 42793242 | 42793126 | 42793126 | Missense_Mutation | C | T | p.R340W |
| HRT18_LARGE_INTESTINE | 42793040 | 42793242 | 42793126 | 42793126 | Missense_Mutation | C | T | p.R340W |
| NCIH1930_LUNG | 42793040 | 42793242 | 42793127 | 42793127 | Missense_Mutation | G | T | p.R340L |
| HS172T_FIBROBLAST | 42793040 | 42793242 | 42793163 | 42793163 | Missense_Mutation | C | G | p.P352R |
| SNU1040_LARGE_INTESTINE | 42793040 | 42793242 | 42793201 | 42793201 | Missense_Mutation | G | A | p.G365S |
| CHL1_SKIN | 42794000 | 42794103 | 42794037 | 42794037 | Missense_Mutation | G | C | p.K466N |
| HMCB_SKIN | 42794000 | 42794103 | 42794037 | 42794037 | Missense_Mutation | G | C | p.K466N |
| GSS_STOMACH | 42794000 | 42794103 | 42794084 | 42794084 | Missense_Mutation | A | G | p.E482G |
| K562_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 42795710 | 42795897 | 42795793 | 42795793 | Missense_Mutation | G | A | p.A928T |
| OVK18_OVARY | 42795710 | 42795897 | 42795803 | 42795803 | Missense_Mutation | T | C | p.M931T |
| WSUNHL_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 42795710 | 42795897 | 42795808 | 42795808 | Missense_Mutation | G | C | p.V933L |
| NCIH2405_LUNG | 42795710 | 42795897 | 42795865 | 42795865 | Missense_Mutation | C | T | p.P952S |
| PC9_LUNG | 42796452 | 42796618 | 42796484 | 42796484 | Missense_Mutation | C | T | p.A1014V |
| PK45H_PANCREAS | 42796452 | 42796618 | 42796484 | 42796484 | Missense_Mutation | C | T | p.A1014V |
| HEC6_ENDOMETRIUM | 42796452 | 42796618 | 42796484 | 42796484 | Missense_Mutation | C | T | p.A1014V |
| PC14_LUNG | 42796452 | 42796618 | 42796484 | 42796484 | Missense_Mutation | C | T | p.A1014V |
| SNU1040_LARGE_INTESTINE | 42796452 | 42796618 | 42796484 | 42796484 | Missense_Mutation | C | T | p.A1014V |
| BT474_BREAST | 42798727 | 42798887 | 42798827 | 42798827 | Missense_Mutation | C | G | p.L1467V |
| BT474_BREAST | 42798756 | 42798887 | 42798827 | 42798827 | Missense_Mutation | C | G | p.L1467V |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for CIC |
| 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 CIC |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for CIC |
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RelatedDrugs for CIC |
| 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 CIC |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
| CIC | C0027627 | Neoplasm Metastasis | 1 | CTD_human |
| CIC | C0087012 | Ataxia, Spinocerebellar | 1 | CTD_human |
| CIC | C3714756 | Intellectual Disability | 1 | CTD_human |
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