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| Open reading frame (ORF) annotation in the exon skipping event |
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| 3'-UTR located exon skipping events lost miRNA binding sites |
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| Splicing Quantitative Trait Loci (sQTLs) in the skipped exons |
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Gene summary for NMD3 |
 Gene summary |
| Gene information | Gene symbol | NMD3 | Gene ID | 51068 |
| Gene name | NMD3 ribosome export adaptor | |
| Synonyms | CGI-07 | |
| Cytomap | 3q26.1 | |
| Type of gene | protein-coding | |
| Description | 60S ribosomal export protein NMD3NMD3 homologhNMD3 | |
| Modification date | 20200313 | |
| UniProtAcc | ||
| Context |
| 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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Gene structures and expression levels for NMD3 |
| Skipped exons in the ROSMAP, MSBB, and Mayo 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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ENSG00000169251
| Differentially expressed gene analysis across multiple brain tissues between AD and control. |
| Tissue type | DEG direction | Base mean exp. | log2FC(AD/control) | P-value | Adj. p-value |
| Differentially expressed isoform analysis across multiple brain tissues between AD and control. |
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| Tissue type | DEG direction | ENST | Transcript info. | Base mean exp. | log2FC(AD/control) | P-value | Adjc. p-value |
| CB | UP | ENST00000463518.5 | NMD3-204:protein_coding:NMD3 | 1.823261e+01 | 8.690538e-01 | 2.853994e-07 | 5.161933e-06 |
| Landscape of isoform expressions across multiple brain tissues between AD and control. |
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Exon skipping events with PSIs in ROSMAP, MSBB, and Mayo for NMD3 |
| Landscape of individual exon skipping event across AD tissues and controls (PSI heatmap). |
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| All exon skipping events in AD cohorts. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon |
| exon_skip_21748 | chr3 | 161233399:161233479:161234727:161234855:161235122:161235212 | 161234727:161234855 |
| exon_skip_234134 | chr3 | 161227247:161227343:161233399:161233479:161234727:161234836 | 161233399:161233479 |
| exon_skip_25616 | chr3 | 161238113:161238191:161238730:161238826:161241046:161241163 | 161238730:161238826 |
| exon_skip_262891 | chr3 | 161234727:161234855:161235122:161235212:161238113:161238191 | 161235122:161235212 |
| exon_skip_2700 | chr3 | 161242508:161242653:161246336:161246448:161247258:161247330 | 161246336:161246448 |
| exon_skip_271779 | chr3 | 161234727:161234855:161235122:161235212:161238113:161238187 | 161235122:161235212 |
| Differentially expressed PSI values of individual exon skipping events in multiple brain tissues between AD and control. |
| Exon skipping information | Tissue type | Avg(PSIs) in AD | Avg(PSIs) in control | Difference (PSI) | Adj. p-value |
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Open reading frame (ORF) annotation in the exon skipping event for NMD3 |
| Open reading frame (ORF) of individual exon skipping events in ROSMAP based on the Ensembl gene structure combined from isoforms. |
| ENST | Start of skipped exon | End of skipped exon | ORF |
| ENST00000351193 | 161235122 | 161235212 | Frame-shift |
| ENST00000460469 | 161235122 | 161235212 | Frame-shift |
| ENST00000351193 | 161246336 | 161246448 | Frame-shift |
| ENST00000460469 | 161246336 | 161246448 | Frame-shift |
| ENST00000351193 | 161233399 | 161233479 | In-frame |
| ENST00000460469 | 161233399 | 161233479 | In-frame |
| Open reading frame (ORF) of individual exon skipping events in MSBB based on the Ensembl gene structure combined from isoforms. |
| ENST | Start of skipped exon | End of skipped exon | ORF |
| ENST00000351193 | 161235122 | 161235212 | Frame-shift |
| ENST00000460469 | 161235122 | 161235212 | Frame-shift |
| ENST00000351193 | 161246336 | 161246448 | Frame-shift |
| ENST00000460469 | 161246336 | 161246448 | Frame-shift |
| ENST00000351193 | 161234727 | 161234855 | In-frame |
| ENST00000460469 | 161234727 | 161234855 | In-frame |
| Open reading frame (ORF) of individual exon skipping events in Mayo based on the Ensembl gene structure combined from isoforms. |
| ENST | Start of skipped exon | End of skipped exon | ORF |
| ENST00000351193 | 161235122 | 161235212 | Frame-shift |
| ENST00000460469 | 161235122 | 161235212 | Frame-shift |
| ENST00000351193 | 161238730 | 161238826 | Frame-shift |
| ENST00000460469 | 161238730 | 161238826 | Frame-shift |
| ENST00000351193 | 161246336 | 161246448 | Frame-shift |
| ENST00000460469 | 161246336 | 161246448 | Frame-shift |
| ENST00000351193 | 161233399 | 161233479 | In-frame |
| ENST00000460469 | 161233399 | 161233479 | In-frame |
| ENST00000351193 | 161234727 | 161234855 | In-frame |
| ENST00000460469 | 161234727 | 161234855 | In-frame |
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Infer the effects of exon skipping event on protein functional features for NMD3 |
p-ENSG00000169251_img4.png |
| Loci of skipped exons in ROSMAP 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 |
| ENST00000351193 | 3066 | 503 | 161233399 | 161233479 | 418 | 497 | 92 | 119 |
| ENST00000460469 | 3078 | 503 | 161233399 | 161233479 | 733 | 812 | 92 | 119 |
| Loci of skipped exons in MSBB 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 |
| ENST00000351193 | 3066 | 503 | 161234727 | 161234855 | 499 | 626 | 119 | 162 |
| ENST00000460469 | 3078 | 503 | 161234727 | 161234855 | 814 | 941 | 119 | 162 |
| Loci of skipped exons in Mayo 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 |
| ENST00000351193 | 3066 | 503 | 161233399 | 161233479 | 418 | 497 | 92 | 119 |
| ENST00000460469 | 3078 | 503 | 161233399 | 161233479 | 733 | 812 | 92 | 119 |
| ENST00000351193 | 3066 | 503 | 161234727 | 161234855 | 499 | 626 | 119 | 162 |
| ENST00000460469 | 3078 | 503 | 161234727 | 161234855 | 814 | 941 | 119 | 162 |
| Lost protein functional features of individual exon skipping events in ROSMAP. |
| 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 |
| Q96D46 | 92 | 119 | 1 | 503 | Chain | ID=PRO_0000323561;Note=60S ribosomal export protein NMD3 |
| Q96D46 | 92 | 119 | 1 | 503 | Chain | ID=PRO_0000323561;Note=60S ribosomal export protein NMD3 |
| Lost protein functional features of individual exon skipping events in MSBB. |
| 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 |
| Q96D46 | 119 | 162 | 1 | 503 | Chain | ID=PRO_0000323561;Note=60S ribosomal export protein NMD3 |
| Q96D46 | 119 | 162 | 1 | 503 | Chain | ID=PRO_0000323561;Note=60S ribosomal export protein NMD3 |
| Lost protein functional features of individual exon skipping events in Mayo. |
| 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 |
| Q96D46 | 92 | 119 | 1 | 503 | Chain | ID=PRO_0000323561;Note=60S ribosomal export protein NMD3 |
| Q96D46 | 92 | 119 | 1 | 503 | Chain | ID=PRO_0000323561;Note=60S ribosomal export protein NMD3 |
| Q96D46 | 119 | 162 | 1 | 503 | Chain | ID=PRO_0000323561;Note=60S ribosomal export protein NMD3 |
| Q96D46 | 119 | 162 | 1 | 503 | Chain | ID=PRO_0000323561;Note=60S ribosomal export protein NMD3 |
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3'-UTR located exon skipping events that lost miRNA binding sites in NMD3 |
| 3'-UTR exon skipping evnets lost miRNA binding. |
| Tissue type | ENST | Exon skip start | Exon skip end | microRNA | Binding site by TargetScan | Binding type by TargetScan | Bdinding site by miRanda | Score of miRanda | Energy by miRanda |
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SNVs in the skipped exons for NMD3 |
| - Differential PSIs between mutated versus non-mutated samples. |
| - Depth of Coverage in the skipped exon of the mutated samples. |
| - Sashimi plot in the skipped exon of the mutated samples. |
| - Non-synonymous mutations located in the skipped exons. |
| Cancer type | Sample | ESID | Skipped exon start | Skipped exon end | Mutation start | Mutation end | Mutation type | Reference seq | Mutation seq | AAchange |
| - 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 |
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AD stage-associated exon skippint events for NMD3 |
| Associated exon skipping events with Braak staging or Clinical Dementia Rating (CDR). |
| AD stage info | Cohort | Tissue | SE id | Coefficient | P-value | Chromosome | Strand | E1 start | E1 end | Skipped start | Skipped end | E2 start | E2 end |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for NMD3 |
| sQTL information located at the skipped exons. |
| Tissue type | Exon skip ID | SNP id | Location | P-value | FDR |
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Correlation with RNA binding proteins (RBPs) for NMD3 |
| Correlated RBP and related information. |
| Tissue type | RBP name | Exon skip ID | Correlation coeifficient | P-value |
| CB | TRA2A | exon_skip_271779 | -4.527593e-01 | 9.595385e-09 |
| CB | PABPN1 | exon_skip_2700 | -4.800740e-01 | 3.887422e-10 |
| CB | CNOT4 | exon_skip_2700 | -4.575852e-01 | 3.089674e-09 |
| CB | PCBP4 | exon_skip_2700 | 4.469152e-01 | 7.848239e-09 |
| CB | TRA2A | exon_skip_2700 | -4.300952e-01 | 3.201516e-08 |
| CB | RC3H1 | exon_skip_2700 | -4.263947e-01 | 4.318107e-08 |
| CB | FUBP1 | exon_skip_2700 | -5.105242e-01 | 1.827297e-11 |
| CB | HNRNPC | exon_skip_2700 | -4.161652e-01 | 9.693478e-08 |
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RelatedDrugs for NMD3 |
| Approved drugs targeting this gene. (DrugBank Version 5.1.0 2018-04-02) |
| UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
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RelatedDiseases for NMD3 |
| 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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