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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 NAALADL1 |
 Gene summary |
| Gene information | Gene symbol | NAALADL1 | Gene ID | 10004 |
| Gene name | N-acetylated alpha-linked acidic dipeptidase like 1 | |
| Synonyms | I100|NAALADASEL | |
| Cytomap | 11q13.1 | |
| Type of gene | protein-coding | |
| Description | N-acetylated-alpha-linked acidic dipeptidase-like protein100 kDa ileum brush border membrane proteinNAALADase Lileal dipeptidylpeptidaseileal peptidase I100peptidase homolog | |
| Modification date | 20180330 | |
| UniProtAcc | Q9UQQ1 | |
| Context | PubMed: NAALADL1 [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 NAALADL1 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 NAALADL1 |
| 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 NAALADL1 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_74134 | 11 | 64813528:64813586:64813660:64813834:64815118:64815204 | 64813660:64813834 | ENSG00000168060.10 | ENST00000355369.2,ENST00000533842.1,ENST00000528884.1,ENST00000533340.1,ENST00000526516.1,ENST00000532450.1 |
| exon_skip_74135 | 11 | 64813528:64813586:64813660:64813998:64814946:64815037 | 64813660:64813998 | ENSG00000168060.10 | ENST00000529685.1 |
| exon_skip_74138 | 11 | 64813731:64813834:64813916:64813998:64814946:64815037 | 64813916:64813998 | ENSG00000168060.10 | ENST00000340252.4,ENST00000530139.1,ENST00000528977.1,ENST00000358658.3,ENST00000356632.3,ENST00000355721.3 |
| exon_skip_74139 | 11 | 64813731:64813834:64813916:64813998:64815118:64815204 | 64813916:64813998 | ENSG00000168060.10 | ENST00000530995.1,ENST00000529274.1,ENST00000526799.1,ENST00000339885.2 |
| exon_skip_74141 | 11 | 64813916:64813998:64814946:64815037:64815118:64815204 | 64814946:64815037 | ENSG00000168060.10 | ENST00000340252.4,ENST00000530139.1,ENST00000528977.1,ENST00000358658.3,ENST00000529685.1,ENST00000356632.3,ENST00000355721.3 |
| exon_skip_74142 | 11 | 64815118:64815210:64815452:64815520:64815623:64815687 | 64815452:64815520 | ENSG00000168060.10 | ENST00000340252.4,ENST00000355369.2,ENST00000530995.1,ENST00000524445.1,ENST00000533340.1,ENST00000529274.1,ENST00000528977.1,ENST00000358658.3,ENST00000356632.3,ENST00000355721.3,ENST00000339885.2 |
| exon_skip_74143 | 11 | 64815623:64815687:64815771:64815857:64820689:64820809 | 64815771:64815857 | ENSG00000168060.10 | ENST00000340252.4,ENST00000355369.2,ENST00000529274.1,ENST00000528977.1,ENST00000358658.3,ENST00000356632.3,ENST00000355721.3,ENST00000339885.2 |
| exon_skip_74144 | 11 | 64820962:64821048:64821721:64821826:64821926:64822210 | 64821721:64821826 | ENSG00000168060.10 | ENST00000340252.4,ENST00000355369.2,ENST00000529274.1,ENST00000358658.3,ENST00000355721.3,ENST00000339885.2 |
| exon_skip_74145 | 11 | 64820962:64821048:64821721:64821846:64821926:64822210 | 64821721:64821846 | ENSG00000168060.10 | ENST00000528977.1 |
| exon_skip_74147 | 11 | 64821926:64822210:64824842:64824965:64825346:64825468 | 64824842:64824965 | ENSG00000168060.10 | ENST00000340252.4,ENST00000355369.2,ENST00000529274.1,ENST00000528977.1,ENST00000358658.3,ENST00000356632.3,ENST00000339885.2 |
| exon_skip_74150 | 11 | 64821926:64822210:64825346:64825468:64825549:64825722 | 64825346:64825468 | ENSG00000168060.10 | ENST00000355721.3 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for NAALADL1 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_74134 | 11 | 64813528:64813586:64813660:64813834:64815118:64815204 | 64813660:64813834 | ENSG00000168060.10 | ENST00000532450.1,ENST00000355369.2,ENST00000526516.1,ENST00000533842.1,ENST00000533340.1,ENST00000528884.1 |
| exon_skip_74135 | 11 | 64813528:64813586:64813660:64813998:64814946:64815037 | 64813660:64813998 | ENSG00000168060.10 | ENST00000529685.1 |
| exon_skip_74138 | 11 | 64813731:64813834:64813916:64813998:64814946:64815037 | 64813916:64813998 | ENSG00000168060.10 | ENST00000358658.3,ENST00000528977.1,ENST00000340252.4,ENST00000355721.3,ENST00000356632.3,ENST00000530139.1 |
| exon_skip_74139 | 11 | 64813731:64813834:64813916:64813998:64815118:64815204 | 64813916:64813998 | ENSG00000168060.10 | ENST00000339885.2,ENST00000526799.1,ENST00000529274.1,ENST00000530995.1 |
| exon_skip_74141 | 11 | 64813916:64813998:64814946:64815037:64815118:64815204 | 64814946:64815037 | ENSG00000168060.10 | ENST00000358658.3,ENST00000528977.1,ENST00000340252.4,ENST00000355721.3,ENST00000356632.3,ENST00000529685.1,ENST00000530139.1 |
| exon_skip_74142 | 11 | 64815118:64815210:64815452:64815520:64815623:64815687 | 64815452:64815520 | ENSG00000168060.10 | ENST00000358658.3,ENST00000355369.2,ENST00000339885.2,ENST00000529274.1,ENST00000528977.1,ENST00000340252.4,ENST00000355721.3,ENST00000356632.3,ENST00000530995.1,ENST00000533340.1,ENST00000524445.1 |
| exon_skip_74143 | 11 | 64815623:64815687:64815771:64815857:64820689:64820809 | 64815771:64815857 | ENSG00000168060.10 | ENST00000358658.3,ENST00000355369.2,ENST00000339885.2,ENST00000529274.1,ENST00000528977.1,ENST00000340252.4,ENST00000355721.3,ENST00000356632.3 |
| exon_skip_74144 | 11 | 64820962:64821048:64821721:64821826:64821926:64822210 | 64821721:64821826 | ENSG00000168060.10 | ENST00000358658.3,ENST00000355369.2,ENST00000339885.2,ENST00000529274.1,ENST00000340252.4,ENST00000355721.3 |
| exon_skip_74145 | 11 | 64820962:64821048:64821721:64821846:64821926:64822210 | 64821721:64821846 | ENSG00000168060.10 | ENST00000528977.1 |
| exon_skip_74147 | 11 | 64821926:64822210:64824842:64824965:64825346:64825468 | 64824842:64824965 | ENSG00000168060.10 | ENST00000358658.3,ENST00000355369.2,ENST00000339885.2,ENST00000529274.1,ENST00000528977.1,ENST00000340252.4,ENST00000356632.3 |
| exon_skip_74150 | 11 | 64821926:64822210:64825346:64825468:64825549:64825722 | 64825346:64825468 | ENSG00000168060.10 | ENST00000355721.3 |
| 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 NAALADL1 |
| 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 |
| ENST00000358658 | 64813916 | 64813998 | Frame-shift |
| ENST00000358658 | 64814946 | 64815037 | Frame-shift |
| ENST00000358658 | 64815452 | 64815520 | Frame-shift |
| ENST00000358658 | 64815771 | 64815857 | Frame-shift |
| ENST00000358658 | 64821721 | 64821826 | In-frame |
| ENST00000358658 | 64824842 | 64824965 | 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 |
| ENST00000358658 | 64813916 | 64813998 | Frame-shift |
| ENST00000358658 | 64814946 | 64815037 | Frame-shift |
| ENST00000358658 | 64815452 | 64815520 | Frame-shift |
| ENST00000358658 | 64815771 | 64815857 | Frame-shift |
| ENST00000358658 | 64821721 | 64821826 | In-frame |
| ENST00000358658 | 64824842 | 64824965 | In-frame |
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Infer the effects of exon skipping event on protein functional features for NAALADL1 |
| 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 |
| ENST00000358658 | 2716 | 740 | 64824842 | 64824965 | 509 | 631 | 160 | 201 |
| ENST00000358658 | 2716 | 740 | 64821721 | 64821826 | 916 | 1020 | 296 | 330 |
| 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 |
| ENST00000358658 | 2716 | 740 | 64824842 | 64824965 | 509 | 631 | 160 | 201 |
| ENST00000358658 | 2716 | 740 | 64821721 | 64821826 | 916 | 1020 | 296 | 330 |
| 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 |
| Q9UQQ1 | 160 | 201 | 161 | 201 | Alternative sequence | ID=VSP_005343;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:10085079;Dbxref=PMID:10085079 |
| Q9UQQ1 | 160 | 201 | 163 | 165 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4TWE |
| Q9UQQ1 | 160 | 201 | 188 | 196 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4TWE |
| Q9UQQ1 | 160 | 201 | 1 | 740 | Chain | ID=PRO_0000174123;Note=N-acetylated-alpha-linked acidic dipeptidase-like protein |
| Q9UQQ1 | 160 | 201 | 171 | 179 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4TWE |
| Q9UQQ1 | 160 | 201 | 198 | 206 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4TWE |
| Q9UQQ1 | 160 | 201 | 29 | 740 | Topological domain | Note=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q9UQQ1 | 296 | 330 | 296 | 330 | Alternative sequence | ID=VSP_005344;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:10085079;Dbxref=PMID:10085079 |
| Q9UQQ1 | 296 | 330 | 300 | 302 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4TWE |
| Q9UQQ1 | 296 | 330 | 310 | 313 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4TWE |
| Q9UQQ1 | 296 | 330 | 319 | 321 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4TWE |
| Q9UQQ1 | 296 | 330 | 325 | 327 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4TWE |
| Q9UQQ1 | 296 | 330 | 1 | 740 | Chain | ID=PRO_0000174123;Note=N-acetylated-alpha-linked acidic dipeptidase-like protein |
| Q9UQQ1 | 296 | 330 | 299 | 299 | Glycosylation | Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q9UQQ1 | 296 | 330 | 305 | 307 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4TWE |
| Q9UQQ1 | 296 | 330 | 263 | 579 | Region | Note=NAALADase |
| Q9UQQ1 | 296 | 330 | 29 | 740 | Topological domain | Note=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| 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 |
| Q9UQQ1 | 160 | 201 | 161 | 201 | Alternative sequence | ID=VSP_005343;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:10085079;Dbxref=PMID:10085079 |
| Q9UQQ1 | 160 | 201 | 163 | 165 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4TWE |
| Q9UQQ1 | 160 | 201 | 188 | 196 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4TWE |
| Q9UQQ1 | 160 | 201 | 1 | 740 | Chain | ID=PRO_0000174123;Note=N-acetylated-alpha-linked acidic dipeptidase-like protein |
| Q9UQQ1 | 160 | 201 | 171 | 179 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4TWE |
| Q9UQQ1 | 160 | 201 | 198 | 206 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4TWE |
| Q9UQQ1 | 160 | 201 | 29 | 740 | Topological domain | Note=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q9UQQ1 | 296 | 330 | 296 | 330 | Alternative sequence | ID=VSP_005344;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:10085079;Dbxref=PMID:10085079 |
| Q9UQQ1 | 296 | 330 | 300 | 302 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4TWE |
| Q9UQQ1 | 296 | 330 | 310 | 313 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4TWE |
| Q9UQQ1 | 296 | 330 | 319 | 321 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4TWE |
| Q9UQQ1 | 296 | 330 | 325 | 327 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4TWE |
| Q9UQQ1 | 296 | 330 | 1 | 740 | Chain | ID=PRO_0000174123;Note=N-acetylated-alpha-linked acidic dipeptidase-like protein |
| Q9UQQ1 | 296 | 330 | 299 | 299 | Glycosylation | Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q9UQQ1 | 296 | 330 | 305 | 307 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4TWE |
| Q9UQQ1 | 296 | 330 | 263 | 579 | Region | Note=NAALADase |
| Q9UQQ1 | 296 | 330 | 29 | 740 | Topological domain | Note=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
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SNVs in the skipped exons for NAALADL1 |
| - 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-A3A0-01 | exon_skip_74135 | 64813661 | 64813998 | 64813925 | 64813925 | Frame_Shift_Del | A | - | p.L558fs |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_74139 exon_skip_74138 | 64813917 | 64813998 | 64813925 | 64813925 | Frame_Shift_Del | A | - | p.L558fs |
| BLCA | TCGA-K4-A4AC-01 | exon_skip_74141 | 64814947 | 64815037 | 64815017 | 64815017 | Frame_Shift_Del | C | - | p.G510fs |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_74143 | 64815772 | 64815857 | 64815813 | 64815813 | Frame_Shift_Del | C | - | p.A415fs |
| COAD | TCGA-G4-6628-01 | exon_skip_74147 | 64824843 | 64824965 | 64824848 | 64824848 | Frame_Shift_Del | C | - | p.A200fs |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_74147 | 64824843 | 64824965 | 64824848 | 64824848 | Frame_Shift_Del | C | - | p.A200fs |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_74147 | 64824843 | 64824965 | 64824862 | 64824862 | Frame_Shift_Del | C | - | p.G195fs |
| LIHC | TCGA-DD-A1EG-01 | exon_skip_74147 | 64824843 | 64824965 | 64824940 | 64824940 | Frame_Shift_Del | C | - | p.G169fs |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_74150 | 64825347 | 64825468 | 64825398 | 64825398 | Frame_Shift_Del | C | - | p.G143fs |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_74150 | 64825347 | 64825468 | 64825461 | 64825461 | Frame_Shift_Del | G | - | p.P122fs |
| UCEC | TCGA-D1-A103-01 | exon_skip_74135 | 64813661 | 64813998 | 64813875 | 64813875 | Nonsense_Mutation | C | A | p.E575* |
| - 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 |
| KHM1B_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 64813661 | 64813998 | 64813694 | 64813694 | Missense_Mutation | C | G | p.G608R |
| KHM1B_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 64813661 | 64813834 | 64813694 | 64813694 | Missense_Mutation | C | G | p.G608R |
| SNU81_LARGE_INTESTINE | 64813661 | 64813998 | 64813726 | 64813726 | Missense_Mutation | C | T | p.R597H |
| SNU81_LARGE_INTESTINE | 64813661 | 64813834 | 64813726 | 64813726 | Missense_Mutation | C | T | p.R597H |
| ISTSL1_LUNG | 64813661 | 64813998 | 64813783 | 64813783 | Missense_Mutation | C | T | p.R578Q |
| ISTSL1_LUNG | 64813661 | 64813834 | 64813783 | 64813783 | Missense_Mutation | C | T | p.R578Q |
| KARPAS45_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 64813917 | 64813998 | 64813919 | 64813919 | Missense_Mutation | G | C | p.P560R |
| KARPAS45_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 64813661 | 64813998 | 64813919 | 64813919 | Missense_Mutation | G | C | p.P560R |
| MM415_SKIN | 64821722 | 64821826 | 64821815 | 64821815 | Missense_Mutation | C | T | p.G300E |
| MM415_SKIN | 64821722 | 64821846 | 64821815 | 64821815 | Missense_Mutation | C | T | p.G300E |
| KARPAS45_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 64824843 | 64824965 | 64824847 | 64824847 | Missense_Mutation | G | A | p.A200V |
| HEC6_ENDOMETRIUM | 64824843 | 64824965 | 64824857 | 64824857 | Missense_Mutation | C | A | p.G197W |
| NCIH196_LUNG | 64824843 | 64824965 | 64824863 | 64824863 | Missense_Mutation | C | T | p.G195S |
| LUDLU1_LUNG | 64824843 | 64824965 | 64824871 | 64824871 | Missense_Mutation | C | T | p.R192Q |
| BICR31_UPPER_AERODIGESTIVE_TRACT | 64824843 | 64824965 | 64824921 | 64824921 | Missense_Mutation | C | A | p.K175N |
| COLO678_LARGE_INTESTINE | 64824843 | 64824965 | 64824938 | 64824938 | Missense_Mutation | C | T | p.A170T |
| HCC1569_BREAST | 64824843 | 64824965 | 64824940 | 64824940 | Missense_Mutation | C | T | p.G169D |
| SNU1040_LARGE_INTESTINE | 64824843 | 64824965 | 64824949 | 64824949 | Missense_Mutation | G | T | p.A166D |
| EW13_BONE | 64825347 | 64825468 | 64825418 | 64825418 | Missense_Mutation | C | G | p.V137L |
| SNU1040_LARGE_INTESTINE | 64813917 | 64813998 | 64813917 | 64813917 | Splice_Site | C | T | p.G561S |
| SNU1040_LARGE_INTESTINE | 64813661 | 64813998 | 64813917 | 64813917 | Splice_Site | C | T | p.G561S |
| UO31_KIDNEY | 64824843 | 64824965 | 64824964 | 64824964 | Splice_Site | C | T | p.G161D |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for NAALADL1 |
| 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 NAALADL1 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for NAALADL1 |
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RelatedDrugs for NAALADL1 |
| 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 NAALADL1 |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
Copyright 2018-Present -The University of Texas Health Science Center at Houston (UTHealth)
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