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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 ENC1 |
 Gene summary |
| Gene information | Gene symbol | ENC1 | Gene ID | 8507 |
| Gene name | ectodermal-neural cortex 1 | |
| Synonyms | CCL28|ENC-1|KLHL35|KLHL37|NRPB|PIG10|TP53I10 | |
| Cytomap | 5q13.3 | |
| Type of gene | protein-coding | |
| Description | ectoderm-neural cortex protein 1ectodermal-neural cortex 1 (with BTB domain)ectodermal-neural cortex 1 (with BTB-like domain)kelch-like 35kelch-like family member 37kelch-like protein 37nuclear matrix protein NRP/Bnuclear restricted protein, BTB do | |
| Modification date | 20180523 | |
| UniProtAcc | O14682 | |
| Context | PubMed: ENC1 [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 |
| ENC1 | GO:0010499 | proteasomal ubiquitin-independent protein catabolic process | 19424503 |
| ENC1 | GO:0016567 | protein ubiquitination | 15983046 |
| ENC1 | GO:0017148 | negative regulation of translation | 19424503 |
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Exon skipping events across known transcript of Ensembl for ENC1 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 ENC1 |
| 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 ENC1 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_442649 | 5 | 73925753:73925817:73930508:73932187:73936131:73936254 | 73930508:73932187 | ENSG00000171617.9 | ENST00000510316.1 |
| exon_skip_442650 | 5 | 73925753:73925817:73930508:73932323:73936131:73936254 | 73930508:73932323 | ENSG00000171617.9 | ENST00000537006.1 |
| exon_skip_442651 | 5 | 73932298:73932323:73933318:73933443:73936131:73936254 | 73933318:73933443 | ENSG00000171617.9 | ENST00000508331.1 |
| exon_skip_442652 | 5 | 73932298:73932323:73933389:73933526:73936131:73936254 | 73933389:73933526 | ENSG00000171617.9 | ENST00000509127.2 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for ENC1 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_442649 | 5 | 73925753:73925817:73930508:73932187:73936131:73936254 | 73930508:73932187 | ENSG00000171617.9 | ENST00000510316.1 |
| exon_skip_442650 | 5 | 73925753:73925817:73930508:73932323:73936131:73936254 | 73930508:73932323 | ENSG00000171617.9 | ENST00000537006.1 |
| exon_skip_442651 | 5 | 73932298:73932323:73933318:73933443:73936131:73936254 | 73933318:73933443 | ENSG00000171617.9 | ENST00000508331.1 |
| exon_skip_442652 | 5 | 73932298:73932323:73933389:73933526:73936131:73936254 | 73933389:73933526 | ENSG00000171617.9 | ENST00000509127.2 |
| 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 ENC1 |
| 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 |
| ENST00000537006 | 73930508 | 73932323 | 3UTR-5UTR |
| 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 |
| ENST00000537006 | 73930508 | 73932323 | 3UTR-5UTR |
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Infer the effects of exon skipping event on protein functional features for ENC1 |
| 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 ENC1 |
| - 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 |
| UCEC | TCGA-D1-A17H-01 | exon_skip_442649 | 73930509 | 73932187 | 73930815 | 73930815 | Frame_Shift_Del | C | - | p.G499fs |
| UCEC | TCGA-D1-A17H-01 | exon_skip_442650 | 73930509 | 73932323 | 73930815 | 73930815 | Frame_Shift_Del | C | - | p.G499fs |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_442649 | 73930509 | 73932187 | 73931126 | 73931126 | Frame_Shift_Del | C | - | p.G395fs |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_442650 | 73930509 | 73932323 | 73931126 | 73931126 | Frame_Shift_Del | C | - | p.G395fs |
| CHOL | TCGA-3X-AAVC-01 | exon_skip_442649 | 73930509 | 73932187 | 73931139 | 73931139 | Frame_Shift_Del | T | - | p.Y391fs |
| CHOL | TCGA-3X-AAVC-01 | exon_skip_442649 | 73930509 | 73932187 | 73931139 | 73931139 | Frame_Shift_Del | T | - | p.Y391X |
| CHOL | TCGA-3X-AAVC-01 | exon_skip_442650 | 73930509 | 73932323 | 73931139 | 73931139 | Frame_Shift_Del | T | - | p.Y391fs |
| CHOL | TCGA-3X-AAVC-01 | exon_skip_442650 | 73930509 | 73932323 | 73931139 | 73931139 | Frame_Shift_Del | T | - | p.Y391X |
| LIHC | TCGA-DD-A1EG-01 | exon_skip_442649 | 73930509 | 73932187 | 73931192 | 73931192 | Frame_Shift_Del | G | - | p.P373fs |
| LIHC | TCGA-DD-A1EG-01 | exon_skip_442650 | 73930509 | 73932323 | 73931192 | 73931192 | Frame_Shift_Del | G | - | p.P373fs |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_442649 | 73930509 | 73932187 | 73931192 | 73931192 | Frame_Shift_Del | G | - | p.P373fs |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_442650 | 73930509 | 73932323 | 73931192 | 73931192 | Frame_Shift_Del | G | - | p.P373fs |
| COAD | TCGA-CM-6171-01 | exon_skip_442649 | 73930509 | 73932187 | 73931270 | 73931270 | Frame_Shift_Del | C | - | p.R275fs |
| COAD | TCGA-CM-6171-01 | exon_skip_442650 | 73930509 | 73932323 | 73931270 | 73931270 | Frame_Shift_Del | C | - | p.R275fs |
| LIHC | TCGA-DD-A1EG-01 | exon_skip_442649 | 73930509 | 73932187 | 73931409 | 73931409 | Frame_Shift_Del | C | - | p.G302fs |
| LIHC | TCGA-DD-A1EG-01 | exon_skip_442650 | 73930509 | 73932323 | 73931409 | 73931409 | Frame_Shift_Del | C | - | p.G302fs |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_442649 | 73930509 | 73932187 | 73931769 | 73931769 | Frame_Shift_Del | T | - | p.K181fs |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_442650 | 73930509 | 73932323 | 73931769 | 73931769 | Frame_Shift_Del | T | - | p.K181fs |
| LUAD | TCGA-35-3615-01 | exon_skip_442649 | 73930509 | 73932187 | 73931269 | 73931270 | Frame_Shift_Ins | - | C | p.GG347fs |
| LUAD | TCGA-35-3615-01 | exon_skip_442650 | 73930509 | 73932323 | 73931269 | 73931270 | Frame_Shift_Ins | - | C | p.GG347fs |
| STAD | TCGA-VQ-A8DL-01 | exon_skip_442649 | 73930509 | 73932187 | 73931865 | 73931866 | Frame_Shift_Ins | - | AGTT | p.C149_L150delinsX |
| STAD | TCGA-VQ-A8DL-01 | exon_skip_442649 | 73930509 | 73932187 | 73931865 | 73931866 | Frame_Shift_Ins | - | AGTT | p.P149fs |
| STAD | TCGA-VQ-A8DL-01 | exon_skip_442650 | 73930509 | 73932323 | 73931865 | 73931866 | Frame_Shift_Ins | - | AGTT | p.C149_L150delinsX |
| STAD | TCGA-VQ-A8DL-01 | exon_skip_442650 | 73930509 | 73932323 | 73931865 | 73931866 | Frame_Shift_Ins | - | AGTT | p.P149fs |
| UCEC | TCGA-AX-A05Z-01 | exon_skip_442649 | 73930509 | 73932187 | 73931356 | 73931356 | Nonsense_Mutation | C | A | p.E319* |
| UCEC | TCGA-AX-A05Z-01 | exon_skip_442650 | 73930509 | 73932323 | 73931356 | 73931356 | Nonsense_Mutation | C | A | p.E319* |
| UCEC | TCGA-D1-A163-01 | exon_skip_442649 | 73930509 | 73932187 | 73932188 | 73932188 | Splice_Site | C | T | e1-1 |
| - Depth of coverage in the three exons composing exon skipping event |
| Depth of coverage in three exons | Mutation description |
 | Sample: TCGA-D1-A163-01 |
| Cancer type: UCEC | |
| ESID: exon_skip_442649 | |
| Skipped exon start: 73930509 | |
| Skipped exon end: 73932187 | |
| Mutation start: 73932188 | |
| Mutation end: 73932188 | |
| Mutation type: Splice_Site | |
| Reference seq: C | |
| Mutation seq: T | |
| AAchange: e1-1 | |
exon_skip_110606_UCEC_TCGA-D1-A163-01.png | |
exon_skip_370065_UCEC_TCGA-D1-A163-01.png | |
exon_skip_442649_UCEC_TCGA-D1-A163-01.png | |
exon_skip_92984_UCEC_TCGA-D1-A163-01.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 |
| VMRCLCD_LUNG | 73930509 | 73932187 | 73931660 | 73931678 | Frame_Shift_Del | CCAGTTAATTGCAGACTCG | - | p.YESAINW211fs |
| VMRCLCD_LUNG | 73930509 | 73932323 | 73931660 | 73931678 | Frame_Shift_Del | CCAGTTAATTGCAGACTCG | - | p.YESAINW211fs |
| SKOV3_OVARY | 73930509 | 73932187 | 73931992 | 73932001 | Frame_Shift_Del | AGTACGCATA | - | p.YAYS104fs |
| SKOV3_OVARY | 73930509 | 73932323 | 73931992 | 73932001 | Frame_Shift_Del | AGTACGCATA | - | p.YAYS104fs |
| MCC13_SKIN | 73930509 | 73932187 | 73930584 | 73930584 | Missense_Mutation | A | G | p.I576T |
| MCC13_SKIN | 73930509 | 73932323 | 73930584 | 73930584 | Missense_Mutation | A | G | p.I576T |
| KARPAS45_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 73930509 | 73932187 | 73930633 | 73930633 | Missense_Mutation | G | C | p.P560A |
| KARPAS45_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 73930509 | 73932323 | 73930633 | 73930633 | Missense_Mutation | G | C | p.P560A |
| D247MG_CENTRAL_NERVOUS_SYSTEM | 73930509 | 73932187 | 73930717 | 73930717 | Missense_Mutation | G | A | p.H532Y |
| D247MG_CENTRAL_NERVOUS_SYSTEM | 73930509 | 73932323 | 73930717 | 73930717 | Missense_Mutation | G | A | p.H532Y |
| HCC2998_LARGE_INTESTINE | 73930509 | 73932187 | 73930802 | 73930802 | Missense_Mutation | G | T | p.F503L |
| HCC2998_LARGE_INTESTINE | 73930509 | 73932323 | 73930802 | 73930802 | Missense_Mutation | G | T | p.F503L |
| DMS53_LUNG | 73930509 | 73932187 | 73930881 | 73930881 | Missense_Mutation | G | T | p.T477N |
| DMS53_LUNG | 73930509 | 73932323 | 73930881 | 73930881 | Missense_Mutation | G | T | p.T477N |
| NCIH748_LUNG | 73930509 | 73932187 | 73930891 | 73930891 | Missense_Mutation | C | G | p.V474L |
| NCIH748_LUNG | 73930509 | 73932323 | 73930891 | 73930891 | Missense_Mutation | C | G | p.V474L |
| KARPAS45_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 73930509 | 73932187 | 73931175 | 73931175 | Missense_Mutation | A | G | p.F379S |
| KARPAS45_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 73930509 | 73932323 | 73931175 | 73931175 | Missense_Mutation | A | G | p.F379S |
| DG75_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 73930509 | 73932187 | 73931196 | 73931196 | Missense_Mutation | G | A | p.A372V |
| DG75_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 73930509 | 73932323 | 73931196 | 73931196 | Missense_Mutation | G | A | p.A372V |
| HCT15_LARGE_INTESTINE | 73930509 | 73932187 | 73931298 | 73931298 | Missense_Mutation | A | T | p.I338N |
| HCT15_LARGE_INTESTINE | 73930509 | 73932323 | 73931298 | 73931298 | Missense_Mutation | A | T | p.I338N |
| HEC108_ENDOMETRIUM | 73930509 | 73932187 | 73931311 | 73931311 | Missense_Mutation | T | C | p.S334G |
| HEC108_ENDOMETRIUM | 73930509 | 73932323 | 73931311 | 73931311 | Missense_Mutation | T | C | p.S334G |
| LS180_LARGE_INTESTINE | 73930509 | 73932187 | 73931341 | 73931341 | Missense_Mutation | C | T | p.A324T |
| LS180_LARGE_INTESTINE | 73930509 | 73932323 | 73931341 | 73931341 | Missense_Mutation | C | T | p.A324T |
| SUPHD1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 73930509 | 73932187 | 73931361 | 73931361 | Missense_Mutation | G | A | p.A317V |
| SUPHD1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 73930509 | 73932323 | 73931361 | 73931361 | Missense_Mutation | G | A | p.A317V |
| SUDHL8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 73930509 | 73932187 | 73931388 | 73931388 | Missense_Mutation | T | A | p.D308V |
| SUDHL8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 73930509 | 73932323 | 73931388 | 73931388 | Missense_Mutation | T | A | p.D308V |
| BICR6_UPPER_AERODIGESTIVE_TRACT | 73930509 | 73932187 | 73931440 | 73931440 | Missense_Mutation | G | A | p.R291W |
| BICR6_UPPER_AERODIGESTIVE_TRACT | 73930509 | 73932323 | 73931440 | 73931440 | Missense_Mutation | G | A | p.R291W |
| BICR6_UPPER_AERODIGESTIVE_TRACT | 73930509 | 73932187 | 73931442 | 73931442 | Missense_Mutation | G | A | p.P290L |
| BICR6_UPPER_AERODIGESTIVE_TRACT | 73930509 | 73932323 | 73931442 | 73931442 | Missense_Mutation | G | A | p.P290L |
| KARPAS45_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 73930509 | 73932187 | 73931470 | 73931470 | Missense_Mutation | C | T | p.G281S |
| KARPAS45_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 73930509 | 73932323 | 73931470 | 73931470 | Missense_Mutation | C | T | p.G281S |
| COLO792_SKIN | 73930509 | 73932187 | 73931551 | 73931551 | Missense_Mutation | C | T | p.E254K |
| COLO792_SKIN | 73930509 | 73932323 | 73931551 | 73931551 | Missense_Mutation | C | T | p.E254K |
| MFE319_ENDOMETRIUM | 73930509 | 73932187 | 73931583 | 73931583 | Missense_Mutation | G | T | p.A243D |
| MFE319_ENDOMETRIUM | 73930509 | 73932323 | 73931583 | 73931583 | Missense_Mutation | G | T | p.A243D |
| SCLC21H_LUNG | 73930509 | 73932187 | 73931610 | 73931610 | Missense_Mutation | T | C | p.Q234R |
| SCLC21H_LUNG | 73930509 | 73932323 | 73931610 | 73931610 | Missense_Mutation | T | C | p.Q234R |
| NCIH1155_LUNG | 73930509 | 73932187 | 73931772 | 73931772 | Missense_Mutation | C | T | p.R180K |
| NCIH1155_LUNG | 73930509 | 73932323 | 73931772 | 73931772 | Missense_Mutation | C | T | p.R180K |
| SW156_KIDNEY | 73930509 | 73932187 | 73931959 | 73931959 | Missense_Mutation | C | T | p.E118K |
| SW156_KIDNEY | 73930509 | 73932323 | 73931959 | 73931959 | Missense_Mutation | C | T | p.E118K |
| MCC13_SKIN | 73930509 | 73932187 | 73932068 | 73932068 | Missense_Mutation | C | A | p.E81D |
| MCC13_SKIN | 73930509 | 73932323 | 73932068 | 73932068 | Missense_Mutation | C | A | p.E81D |
| HS895T_FIBROBLAST | 73930509 | 73932187 | 73932105 | 73932105 | Missense_Mutation | C | T | p.R69H |
| HS895T_FIBROBLAST | 73930509 | 73932323 | 73932105 | 73932105 | Missense_Mutation | C | T | p.R69H |
| LS180_LARGE_INTESTINE | 73930509 | 73932187 | 73932186 | 73932186 | Missense_Mutation | T | G | p.Q42P |
| LS180_LARGE_INTESTINE | 73930509 | 73932323 | 73932186 | 73932186 | Missense_Mutation | T | G | p.Q42P |
| NAMALWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 73930509 | 73932323 | 73932259 | 73932259 | Missense_Mutation | T | G | p.I18L |
| KYSE520_OESOPHAGUS | 73930509 | 73932323 | 73932273 | 73932273 | Missense_Mutation | G | A | p.A13V |
| CHL1_SKIN | 73930509 | 73932187 | 73931020 | 73931020 | Nonsense_Mutation | G | A | p.R431* |
| CHL1_SKIN | 73930509 | 73932323 | 73931020 | 73931020 | Nonsense_Mutation | G | A | p.R431* |
| HEC59_ENDOMETRIUM | 73930509 | 73932187 | 73931234 | 73931234 | Nonsense_Mutation | C | T | p.W359* |
| HEC59_ENDOMETRIUM | 73930509 | 73932323 | 73931234 | 73931234 | Nonsense_Mutation | C | T | p.W359* |
| HT115_LARGE_INTESTINE | 73930509 | 73932187 | 73931317 | 73931317 | Nonsense_Mutation | C | A | p.E332* |
| HT115_LARGE_INTESTINE | 73930509 | 73932323 | 73931317 | 73931317 | Nonsense_Mutation | C | A | p.E332* |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for ENC1 |
| 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 ENC1 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for ENC1 |
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RelatedDrugs for ENC1 |
| 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 ENC1 |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
| ENC1 | C0023893 | Liver Cirrhosis, Experimental | 1 | CTD_human |
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