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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 NAALAD2 |
Gene summary |
| Gene information | Gene symbol | NAALAD2 | Gene ID | 10003 |
| Gene name | N-acetylated alpha-linked acidic dipeptidase 2 | |
| Synonyms | GCPIII|GPCIII|NAADALASE2|NAALADASE2 | |
| Cytomap | 11q14.3 | |
| Type of gene | protein-coding | |
| Description | N-acetylated-alpha-linked acidic dipeptidase 2N-acetylated alpha-linked acidic dipeptidase IINAALADase IIglutamate carboxypeptidase III | |
| Modification date | 20180519 | |
| UniProtAcc | Q9Y3Q0 | |
| Context | PubMed: NAALAD2 [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 NAALAD2 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 NAALAD2 |
Expression levels of gene isoforms across TCGA. |
Expression levels of gene isoforms across GTEx. |
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Exon skipping events with PSIs in TCGA for NAALAD2 |
Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_64337 | 11 | 89891312:89891406:89892406:89892505:89896116:89896202 | 89892406:89892505 | ENSG00000077616.6 | ENST00000534061.1 |
| exon_skip_64341 | 11 | 89902096:89902160:89903236:89903304:89906991:89907083 | 89903236:89903304 | ENSG00000077616.6 | ENST00000534061.1,ENST00000321955.4 |
| exon_skip_64342 | 11 | 89906991:89907083:89909139:89909230:89911020:89911285 | 89909139:89909230 | ENSG00000077616.6 | ENST00000534061.1,ENST00000321955.4 |
| exon_skip_64344 | 11 | 89909139:89909230:89911020:89911285:89914787:89914869 | 89911020:89911285 | ENSG00000077616.6 | ENST00000534061.1,ENST00000321955.4 |
PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for NAALAD2 |
Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_64335 | 11 | 89885465:89885652:89891312:89891406:89892406:89892505 | 89891312:89891406 | ENSG00000077616.6 | ENST00000534061.1 |
| exon_skip_64337 | 11 | 89891312:89891406:89892406:89892505:89896116:89896202 | 89892406:89892505 | ENSG00000077616.6 | ENST00000534061.1 |
| exon_skip_64341 | 11 | 89902096:89902160:89903236:89903304:89906991:89907083 | 89903236:89903304 | ENSG00000077616.6 | ENST00000534061.1,ENST00000321955.4 |
| exon_skip_64342 | 11 | 89906991:89907083:89909139:89909230:89911020:89911285 | 89909139:89909230 | ENSG00000077616.6 | ENST00000534061.1,ENST00000321955.4 |
| exon_skip_64344 | 11 | 89909139:89909230:89911020:89911285:89914787:89914869 | 89911020:89911285 | ENSG00000077616.6 | ENST00000534061.1,ENST00000321955.4 |
PSI values of skipped exons in GTEx. |
| * Skipped exon sequences. |
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Open reading frame (ORF) annotation in the exon skipping event for NAALAD2 |
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 |
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 NAALAD2 |
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 NAALAD2 |
- Lollipop plot for presenting exon skipping associated SNVs.* Click on the image to enlarge it in a new window. |
- 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_64337 | 89892407 | 89892505 | 89892446 | 89892446 | Frame_Shift_Del | G | - | p.K310fs |
| LIHC | TCGA-DD-A39Y-01 | exon_skip_64341 | 89903237 | 89903304 | 89903290 | 89903290 | Frame_Shift_Del | A | - | p.K466fs |
| LIHC | TCGA-DD-A1EG-01 | exon_skip_64344 | 89911021 | 89911285 | 89911108 | 89911108 | Frame_Shift_Del | A | - | p.K562fs |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_64344 | 89911021 | 89911285 | 89911108 | 89911108 | Frame_Shift_Del | A | - | p.F560fs |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_64344 | 89911021 | 89911285 | 89911108 | 89911108 | Frame_Shift_Del | A | - | p.K562fs |
| LUSC | TCGA-39-5031-01 | exon_skip_64337 | 89892407 | 89892505 | 89892410 | 89892410 | Nonsense_Mutation | C | A | p.Y298* |
| SKCM | TCGA-EE-A17X-06 | exon_skip_64337 | 89892407 | 89892505 | 89892443 | 89892443 | Nonsense_Mutation | G | A | p.W309* |
| SKCM | TCGA-EE-A17X-06 | exon_skip_64337 | 89892407 | 89892505 | 89892443 | 89892443 | Nonsense_Mutation | G | A | p.W309X |
| ACC | TCGA-P6-A5OG-01 | exon_skip_64337 | 89892407 | 89892505 | 89892474 | 89892474 | Nonsense_Mutation | G | T | p.G320* |
| ACC | TCGA-P6-A5OG-01 | exon_skip_64337 | 89892407 | 89892505 | 89892474 | 89892474 | Nonsense_Mutation | G | T | p.G320X |
| HNSC | TCGA-BA-4076-01 | exon_skip_64337 | 89892407 | 89892505 | 89892474 | 89892474 | Nonsense_Mutation | G | T | p.G320* |
| LIHC | TCGA-DD-AACL-01 | exon_skip_64344 | 89911021 | 89911285 | 89911262 | 89911262 | Nonsense_Mutation | T | A | p.L612X |
| COAD | TCGA-AA-3510-01 | exon_skip_64342 | 89909140 | 89909230 | 89909139 | 89909139 | Splice_Site | G | T | . |
- 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 |
| NCIH1304_LUNG | 89911021 | 89911285 | 89911104 | 89911105 | Frame_Shift_Ins | - | T | p.F560fs |
| PANC0813_PANCREAS | 89892407 | 89892505 | 89892456 | 89892456 | Missense_Mutation | A | G | p.N314D |
| EN_ENDOMETRIUM | 89892407 | 89892505 | 89892471 | 89892471 | Missense_Mutation | A | G | p.I319V |
| DU145_PROSTATE | 89892407 | 89892505 | 89892472 | 89892472 | Missense_Mutation | T | C | p.I319T |
| SNU1197_LARGE_INTESTINE | 89892407 | 89892505 | 89892474 | 89892474 | Missense_Mutation | G | A | p.G320R |
| DU145_PROSTATE | 89892407 | 89892505 | 89892475 | 89892475 | Missense_Mutation | G | T | p.G320V |
| SNU1040_LARGE_INTESTINE | 89892407 | 89892505 | 89892481 | 89892481 | Missense_Mutation | G | A | p.G322D |
| HCT15_LARGE_INTESTINE | 89892407 | 89892505 | 89892490 | 89892490 | Missense_Mutation | G | T | p.G325V |
| RKO_LARGE_INTESTINE | 89903237 | 89903304 | 89903287 | 89903287 | Missense_Mutation | T | G | p.Y465D |
| NCIH1651_LUNG | 89909140 | 89909230 | 89909189 | 89909189 | Missense_Mutation | C | G | p.L518V |
| HEC108_ENDOMETRIUM | 89911021 | 89911285 | 89911037 | 89911037 | Missense_Mutation | G | A | p.S537N |
| LOUCY_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 89911021 | 89911285 | 89911121 | 89911121 | Missense_Mutation | C | T | p.S565F |
| MRKNU1_BREAST | 89911021 | 89911285 | 89911121 | 89911121 | Missense_Mutation | C | T | p.S565F |
| HEC108_ENDOMETRIUM | 89911021 | 89911285 | 89911123 | 89911123 | Missense_Mutation | G | A | p.V566M |
| HCC2998_LARGE_INTESTINE | 89911021 | 89911285 | 89911166 | 89911166 | Missense_Mutation | C | A | p.S580Y |
| EVSAT_BREAST | 89911021 | 89911285 | 89911222 | 89911222 | Missense_Mutation | G | A | p.A599T |
| SW954_VULVA | 89911021 | 89911285 | 89911252 | 89911252 | Missense_Mutation | G | A | p.D609N |
| HCC2218_BREAST | 89911021 | 89911285 | 89911267 | 89911267 | Missense_Mutation | G | A | p.D614N |
| HCC2218_MATCHED_NORMAL_TISSUE | 89911021 | 89911285 | 89911267 | 89911267 | Missense_Mutation | G | A | p.D614N |
| NCIBL209_MATCHED_NORMAL_TISSUE | 89911021 | 89911285 | 89911267 | 89911267 | Missense_Mutation | G | A | p.D614N |
| LS411N_LARGE_INTESTINE | 89911021 | 89911285 | 89911135 | 89911135 | Nonsense_Mutation | C | T | p.R570* |
| SW1710_URINARY_TRACT | 89892407 | 89892505 | 89892505 | 89892505 | Splice_Site | G | T | p.R330M |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for NAALAD2 |
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 NAALAD2 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for NAALAD2 |
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RelatedDrugs for NAALAD2 |
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 NAALAD2 |
Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |