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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 TFAP2C |
 Gene summary |
| Gene information | Gene symbol | TFAP2C | Gene ID | 7022 |
| Gene name | transcription factor AP-2 gamma | |
| Synonyms | AP2-GAMMA|ERF1|TFAP2G|hAP-2g | |
| Cytomap | 20q13.31 | |
| Type of gene | protein-coding | |
| Description | transcription factor AP-2 gammaactivating enhancer-binding protein 2 gammaestrogen receptor factor 1transcription factor ERF-1 | |
| Modification date | 20180523 | |
| UniProtAcc | Q92754 | |
| Context | PubMed: TFAP2C [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 |
| TFAP2C | GO:0045944 | positive regulation of transcription by RNA polymerase II | 22735262 |
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Exon skipping events across known transcript of Ensembl for TFAP2C 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 TFAP2C |
| 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 TFAP2C |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_353034 | 20 | 55206860:55206912:55208408:55208625:55209205:55209324 | 55208408:55208625 | ENSG00000087510.5 | ENST00000201031.2,ENST00000544508.1 |
| exon_skip_353035 | 20 | 55209205:55209324:55211665:55211810:55212783:55213331 | 55211665:55211810 | ENSG00000087510.5 | ENST00000201031.2,ENST00000544508.1 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for TFAP2C |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_353034 | 20 | 55206860:55206912:55208408:55208625:55209205:55209324 | 55208408:55208625 | ENSG00000087510.5 | ENST00000201031.2,ENST00000544508.1 |
| exon_skip_353035 | 20 | 55209205:55209324:55211665:55211810:55212783:55213331 | 55211665:55211810 | ENSG00000087510.5 | ENST00000201031.2,ENST00000544508.1 |
| 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 TFAP2C |
| 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 |
| ENST00000201031 | 55208408 | 55208625 | Frame-shift |
| ENST00000201031 | 55211665 | 55211810 | Frame-shift |
| 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 |
| ENST00000201031 | 55208408 | 55208625 | Frame-shift |
| ENST00000201031 | 55211665 | 55211810 | Frame-shift |
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Infer the effects of exon skipping event on protein functional features for TFAP2C |
| 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 |
| 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 |
| 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 TFAP2C |
| - 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-A39Y-01 | exon_skip_353034 | 55208409 | 55208625 | 55208411 | 55208411 | Frame_Shift_Del | C | - | p.P197fs |
| LIHC | TCGA-DD-A1EG-01 | exon_skip_353034 | 55208409 | 55208625 | 55208443 | 55208443 | Frame_Shift_Del | C | - | p.L207fs |
| LIHC | TCGA-DD-A39Y-01 | exon_skip_353034 | 55208409 | 55208625 | 55208464 | 55208464 | Frame_Shift_Del | G | - | p.V214fs |
| PRAD | TCGA-KK-A8IF-01 | exon_skip_353034 | 55208409 | 55208625 | 55208584 | 55208594 | Frame_Shift_Del | TGAATGCTTAA | - | p.ECLN255fs |
| PRAD | TCGA-KK-A8IF-01 | exon_skip_353034 | 55208409 | 55208625 | 55208584 | 55208594 | Frame_Shift_Del | TGAATGCTTAA | - | p.PECLN254fs |
| HNSC | TCGA-CN-4728-01 | exon_skip_353034 | 55208409 | 55208625 | 55208539 | 55208540 | Frame_Shift_Ins | - | T | p.K239fs |
| HNSC | TCGA-CN-4728-01 | exon_skip_353034 | 55208409 | 55208625 | 55208539 | 55208540 | Frame_Shift_Ins | - | T | p.KQ239fs |
| STAD | TCGA-BR-A4J1-01 | exon_skip_353034 | 55208409 | 55208625 | 55208570 | 55208570 | Nonsense_Mutation | C | T | p.R250* |
| STAD | TCGA-BR-A4J1-01 | exon_skip_353034 | 55208409 | 55208625 | 55208570 | 55208570 | Nonsense_Mutation | C | T | p.R250X |
| UCEC | TCGA-AP-A051-01 | exon_skip_353034 | 55208409 | 55208625 | 55208570 | 55208570 | Nonsense_Mutation | C | T | p.R250* |
| LGG | TCGA-QH-A65X-01 | exon_skip_353035 | 55211666 | 55211810 | 55211767 | 55211767 | Nonsense_Mutation | C | T | p.R342* |
| - 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 |
| NCIH510_LUNG | 55208409 | 55208625 | 55208433 | 55208433 | Missense_Mutation | C | A | p.P204H |
| SW684_SOFT_TISSUE | 55211666 | 55211810 | 55211729 | 55211729 | Missense_Mutation | C | T | p.P329L |
| HCT15_LARGE_INTESTINE | 55211666 | 55211810 | 55211765 | 55211765 | Missense_Mutation | G | A | p.G341E |
| JURKAT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 55211666 | 55211810 | 55211786 | 55211786 | Missense_Mutation | G | T | p.R348M |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for TFAP2C |
| 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 TFAP2C |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for TFAP2C |
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RelatedDrugs for TFAP2C |
| 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 TFAP2C |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
| TFAP2C | C0038356 | Stomach Neoplasms | 1 | CTD_human |
| TFAP2C | C3496069 | cocaine use | 1 | PSYGENET |
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