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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 NACC1 |
 Gene summary |
| Gene information | Gene symbol | NACC1 | Gene ID | 112939 |
| Gene name | nucleus accumbens associated 1 | |
| Synonyms | BEND8|BTBD14B|BTBD30|NAC-1|NAC1|NECFM | |
| Cytomap | 19p13.13 | |
| Type of gene | protein-coding | |
| Description | nucleus accumbens-associated protein 1BEN domain containing 8BTB/POZ domain-containing protein 14Bnucleus accumbens associated 1, BEN and BTB (POZ) domain containingtranscriptional repressor NAC1 | |
| Modification date | 20180519 | |
| UniProtAcc | Q96RE7 | |
| Context | PubMed: NACC1 [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 |
| NACC1 | GO:0051260 | protein homooligomerization | 17130457 |
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Exon skipping events across known transcript of Ensembl for NACC1 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 NACC1 |
| 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 NACC1 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_302807 | 19 | 13246013:13246967:13247045:13247219:13248084:13248190 | 13247045:13247219 | ENSG00000160877.5 | ENST00000292431.4 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for NACC1 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| 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 NACC1 |
| 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 |
| ENST00000292431 | 13247045 | 13247219 | 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 |
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Infer the effects of exon skipping event on protein functional features for NACC1 |
| 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 |
| ENST00000292431 | 4462 | 527 | 13247045 | 13247219 | 1073 | 1246 | 315 | 373 |
| 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 |
| Q96RE7 | 315 | 373 | 1 | 527 | Chain | ID=PRO_0000274041;Note=Nucleus accumbens-associated protein 1 |
| Q96RE7 | 315 | 373 | 318 | 318 | Cross-link | Note=Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2);Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:28112733;Dbxref=PMID:28112733 |
| 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 NACC1 |
| - 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 |
| HNSC | TCGA-CV-6961-01 | exon_skip_302807 | 13247046 | 13247219 | 13247198 | 13247198 | Nonsense_Mutation | G | T | p.E367* |
| - 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 |
| EN_ENDOMETRIUM | 13247046 | 13247219 | 13247064 | 13247064 | Missense_Mutation | T | C | p.L322P |
| CP67MEL_SKIN | 13247046 | 13247219 | 13247079 | 13247079 | Missense_Mutation | C | T | p.A327V |
| KARPAS45_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 13247046 | 13247219 | 13247081 | 13247081 | Missense_Mutation | C | A | p.P328T |
| KCL22_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 13247046 | 13247219 | 13247173 | 13247173 | Missense_Mutation | G | C | p.K358N |
| KYSE150_OESOPHAGUS | 13247046 | 13247219 | 13247189 | 13247189 | Missense_Mutation | G | A | p.D364N |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for NACC1 |
| 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 NACC1 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for NACC1 |
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RelatedDrugs for NACC1 |
| 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 NACC1 |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
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