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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 NUDT7 |
 Gene summary |
| Gene information | Gene symbol | NUDT7 | Gene ID | 283927 |
| Gene name | nudix hydrolase 7 | |
| Synonyms | - | |
| Cytomap | 16q23.1 | |
| Type of gene | protein-coding | |
| Description | peroxisomal coenzyme A diphosphatase NUDT7nudix (nucleoside diphosphate linked moiety X)-type motif 7 | |
| Modification date | 20180522 | |
| UniProtAcc | P0C024 | |
| Context | PubMed: NUDT7 [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 NUDT7 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 NUDT7 |
| 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 NUDT7 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_138665 | 16 | 77756441:77756514:77759327:77759481:77769724:77769883 | 77759327:77759481 | ENSG00000140876.7 | ENST00000268533.5,ENST00000568787.1 |
| exon_skip_138666 | 16 | 77756441:77756514:77759327:77759481:77775478:77775721 | 77759327:77759481 | ENSG00000140876.7 | ENST00000437314.3 |
| exon_skip_138675 | 16 | 77759327:77759481:77769724:77769883:77770546:77770640 | 77769724:77769883 | ENSG00000140876.7 | ENST00000564085.1 |
| exon_skip_138676 | 16 | 77759327:77759481:77769724:77769883:77775478:77775721 | 77769724:77769883 | ENSG00000140876.7 | ENST00000268533.5 |
| exon_skip_138681 | 16 | 77769724:77769883:77770546:77770640:77775478:77775721 | 77770546:77770640 | ENSG00000140876.7 | ENST00000564085.1 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for NUDT7 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_138665 | 16 | 77756441:77756514:77759327:77759481:77769724:77769883 | 77759327:77759481 | ENSG00000140876.7 | ENST00000268533.5,ENST00000568787.1 |
| exon_skip_138666 | 16 | 77756441:77756514:77759327:77759481:77775478:77775721 | 77759327:77759481 | ENSG00000140876.7 | ENST00000437314.3 |
| exon_skip_138675 | 16 | 77759327:77759481:77769724:77769883:77770546:77770640 | 77769724:77769883 | ENSG00000140876.7 | ENST00000564085.1 |
| exon_skip_138676 | 16 | 77759327:77759481:77769724:77769883:77775478:77775721 | 77769724:77769883 | ENSG00000140876.7 | ENST00000268533.5 |
| exon_skip_138681 | 16 | 77769724:77769883:77770546:77770640:77775478:77775721 | 77770546:77770640 | ENSG00000140876.7 | ENST00000564085.1 |
| 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 NUDT7 |
| 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 |
| ENST00000268533 | 77759327 | 77759481 | Frame-shift |
| ENST00000268533 | 77769724 | 77769883 | 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 |
| ENST00000268533 | 77759327 | 77759481 | Frame-shift |
| ENST00000268533 | 77769724 | 77769883 | In-frame |
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Infer the effects of exon skipping event on protein functional features for NUDT7 |
| 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 |
| ENST00000268533 | 1113 | 238 | 77769724 | 77769883 | 259 | 417 | 63 | 116 |
| 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 |
| ENST00000268533 | 1113 | 238 | 77769724 | 77769883 | 259 | 417 | 63 | 116 |
| 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 |
| P0C024 | 63 | 116 | 64 | 116 | Alternative sequence | ID=VSP_047605;Note=In isoform 2. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:14702039,ECO:0000303|Ref.1;Dbxref=PMID:14702039 |
| P0C024 | 63 | 116 | 64 | 67 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5T3P |
| P0C024 | 63 | 116 | 74 | 77 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5T3P |
| P0C024 | 63 | 116 | 104 | 109 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5T3P |
| P0C024 | 63 | 116 | 113 | 128 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5T3P |
| P0C024 | 63 | 116 | 1 | 238 | Chain | ID=PRO_0000057140;Note=Peroxisomal coenzyme A diphosphatase NUDT7 |
| P0C024 | 63 | 116 | 37 | 172 | Domain | Note=Nudix hydrolase;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00794 |
| P0C024 | 63 | 116 | 85 | 97 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5T3P |
| P0C024 | 63 | 116 | 101 | 103 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5T3P |
| P0C024 | 63 | 116 | 92 | 92 | Metal binding | Note=Magnesium or manganese;Ontology_term=ECO:0000250;evidence=ECO:0000250 |
| P0C024 | 63 | 116 | 96 | 96 | Metal binding | Note=Magnesium or manganese;Ontology_term=ECO:0000250;evidence=ECO:0000250 |
| P0C024 | 63 | 116 | 77 | 98 | Motif | Note=Nudix box |
| P0C024 | 63 | 116 | 100 | 100 | Natural variant | ID=VAR_050415;Note=R->H;Dbxref=dbSNP:rs308925 |
| 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 |
| P0C024 | 63 | 116 | 64 | 116 | Alternative sequence | ID=VSP_047605;Note=In isoform 2. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:14702039,ECO:0000303|Ref.1;Dbxref=PMID:14702039 |
| P0C024 | 63 | 116 | 64 | 67 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5T3P |
| P0C024 | 63 | 116 | 74 | 77 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5T3P |
| P0C024 | 63 | 116 | 104 | 109 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5T3P |
| P0C024 | 63 | 116 | 113 | 128 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5T3P |
| P0C024 | 63 | 116 | 1 | 238 | Chain | ID=PRO_0000057140;Note=Peroxisomal coenzyme A diphosphatase NUDT7 |
| P0C024 | 63 | 116 | 37 | 172 | Domain | Note=Nudix hydrolase;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00794 |
| P0C024 | 63 | 116 | 85 | 97 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5T3P |
| P0C024 | 63 | 116 | 101 | 103 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5T3P |
| P0C024 | 63 | 116 | 92 | 92 | Metal binding | Note=Magnesium or manganese;Ontology_term=ECO:0000250;evidence=ECO:0000250 |
| P0C024 | 63 | 116 | 96 | 96 | Metal binding | Note=Magnesium or manganese;Ontology_term=ECO:0000250;evidence=ECO:0000250 |
| P0C024 | 63 | 116 | 77 | 98 | Motif | Note=Nudix box |
| P0C024 | 63 | 116 | 100 | 100 | Natural variant | ID=VAR_050415;Note=R->H;Dbxref=dbSNP:rs308925 |
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SNVs in the skipped exons for NUDT7 |
| - 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-G3-A3CJ-01 | exon_skip_138676 exon_skip_138675 | 77769725 | 77769883 | 77769754 | 77769754 | Frame_Shift_Del | C | - | p.F73fs |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_138676 exon_skip_138675 | 77769725 | 77769883 | 77769813 | 77769813 | Frame_Shift_Del | C | - | p.A93fs |
| READ | TCGA-F5-6814-01 | exon_skip_138676 exon_skip_138675 | 77769725 | 77769883 | 77769743 | 77769743 | Nonsense_Mutation | G | T | p.E70X |
| SKCM | TCGA-EE-A2A1-06 | exon_skip_138676 exon_skip_138675 | 77769725 | 77769883 | 77769818 | 77769818 | Nonsense_Mutation | G | T | p.E95* |
| SKCM | TCGA-EE-A2A1-06 | exon_skip_138676 exon_skip_138675 | 77769725 | 77769883 | 77769818 | 77769818 | Nonsense_Mutation | G | T | p.E95X |
| OV | TCGA-09-2053-01 | exon_skip_138665 exon_skip_138666 | 77759328 | 77759481 | 77759482 | 77759482 | Splice_Site | G | T | p.K63_splice |
| THYM | TCGA-ZC-AAA7-01 | exon_skip_138676 exon_skip_138675 | 77769725 | 77769883 | 77769724 | 77769724 | 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-F5-6814-01 |
| Cancer type: READ | |
| ESID: exon_skip_138675 | |
| Skipped exon start: 77769725 | |
| Skipped exon end: 77769883 | |
| Mutation start: 77769743 | |
| Mutation end: 77769743 | |
| Mutation type: Nonsense_Mutation | |
| Reference seq: G | |
| Mutation seq: T | |
| AAchange: p.E70X | |
exon_skip_104037_READ_TCGA-F5-6814-01.png | |
exon_skip_108731_READ_TCGA-F5-6814-01.png | |
exon_skip_111139_READ_TCGA-F5-6814-01.png | |
exon_skip_111141_READ_TCGA-F5-6814-01.png | |
exon_skip_134785_READ_TCGA-F5-6814-01.png | |
exon_skip_138676_READ_TCGA-F5-6814-01.png | |
exon_skip_141979_READ_TCGA-F5-6814-01.png | |
exon_skip_142361_READ_TCGA-F5-6814-01.png | |
exon_skip_142369_READ_TCGA-F5-6814-01.png | |
exon_skip_142374_READ_TCGA-F5-6814-01.png | |
exon_skip_145114_READ_TCGA-F5-6814-01.png | |
exon_skip_145115_READ_TCGA-F5-6814-01.png | |
exon_skip_153669_READ_TCGA-F5-6814-01.png | |
exon_skip_28270_READ_TCGA-F5-6814-01.png | |
exon_skip_290191_READ_TCGA-F5-6814-01.png | |
exon_skip_296525_READ_TCGA-F5-6814-01.png | |
exon_skip_358963_READ_TCGA-F5-6814-01.png | |
exon_skip_428765_READ_TCGA-F5-6814-01.png | |
exon_skip_43545_READ_TCGA-F5-6814-01.png | |
exon_skip_444150_READ_TCGA-F5-6814-01.png | |
exon_skip_479241_READ_TCGA-F5-6814-01.png | |
exon_skip_497224_READ_TCGA-F5-6814-01.png | |
 | Sample: TCGA-EE-A2A1-06 |
| Cancer type: SKCM | |
| ESID: exon_skip_138675 | |
| Skipped exon start: 77769725 | |
| Skipped exon end: 77769883 | |
| Mutation start: 77769818 | |
| Mutation end: 77769818 | |
| Mutation type: Nonsense_Mutation | |
| Reference seq: G | |
| Mutation seq: T | |
| AAchange: p.E95X | |
| Sample: TCGA-EE-A2A1-06 |
| Cancer type: SKCM | |
| ESID: exon_skip_138675 | |
| Skipped exon start: 77769725 | |
| Skipped exon end: 77769883 | |
| Mutation start: 77769818 | |
| Mutation end: 77769818 | |
| Mutation type: Nonsense_Mutation | |
| Reference seq: G | |
| Mutation seq: T | |
| AAchange: p.E95* | |
exon_skip_138676_SKCM_TCGA-EE-A2A1-06.png | |
exon_skip_445458_SKCM_TCGA-EE-A2A1-06.png | |
exon_skip_49506_SKCM_TCGA-EE-A2A1-06.png | |
 | Sample: TCGA-G3-A3CJ-01 |
| Cancer type: LIHC | |
| ESID: exon_skip_138675 | |
| Skipped exon start: 77769725 | |
| Skipped exon end: 77769883 | |
| Mutation start: 77769754 | |
| Mutation end: 77769754 | |
| Mutation type: Frame_Shift_Del | |
| Reference seq: C | |
| Mutation seq: - | |
| AAchange: p.F73fs | |
| Sample: TCGA-G3-A3CJ-01 |
| Cancer type: LIHC | |
| ESID: exon_skip_138675 | |
| Skipped exon start: 77769725 | |
| Skipped exon end: 77769883 | |
| Mutation start: 77769813 | |
| Mutation end: 77769813 | |
| Mutation type: Frame_Shift_Del | |
| Reference seq: C | |
| Mutation seq: - | |
| AAchange: p.A93fs | |
exon_skip_101516_LIHC_TCGA-G3-A3CJ-01.png | |
exon_skip_106378_LIHC_TCGA-G3-A3CJ-01.png | |
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exon_skip_387684_LIHC_TCGA-G3-A3CJ-01.png | |
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| - 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 |
| NCIH64_LUNG | 77759328 | 77759481 | 77759357 | 77759357 | Missense_Mutation | G | A | p.R22H |
| KYSE520_OESOPHAGUS | 77759328 | 77759481 | 77759371 | 77759371 | Missense_Mutation | G | T | p.D27Y |
| KATOIII_STOMACH | 77759328 | 77759481 | 77759471 | 77759471 | Missense_Mutation | G | C | p.R60P |
| NB5_AUTONOMIC_GANGLIA | 77769725 | 77769883 | 77769784 | 77769784 | Missense_Mutation | G | A | p.M83I |
| NAMALWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 77769725 | 77769883 | 77769791 | 77769791 | Missense_Mutation | G | C | p.A86P |
| A3KAW_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 77769725 | 77769883 | 77769823 | 77769823 | Missense_Mutation | A | C | p.E96D |
| EMCBAC2_LUNG | 77769725 | 77769883 | 77769836 | 77769836 | Missense_Mutation | C | T | p.P101S |
| CTV1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 77759328 | 77759481 | 77759362 | 77759362 | Nonsense_Mutation | A | T | p.R24* |
| HEC251_ENDOMETRIUM | 77759328 | 77759481 | 77759440 | 77759440 | Nonsense_Mutation | G | T | p.E50* |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for NUDT7 |
| 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 NUDT7 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for NUDT7 |
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RelatedDrugs for NUDT7 |
| 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 NUDT7 |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
| NUDT7 | C0023903 | Liver neoplasms | 1 | CTD_human |
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