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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 NME4 |
 Gene summary |
| Gene information | Gene symbol | NME4 | Gene ID | 4833 |
| Gene name | NME/NM23 nucleoside diphosphate kinase 4 | |
| Synonyms | NDPK-D|NM23H4|nm23-H4 | |
| Cytomap | 16p13.3 | |
| Type of gene | protein-coding | |
| Description | nucleoside diphosphate kinase, mitochondrialNDKNDP kinase DNDP kinase, mitochondrialNDPKDnon-metastatic cells 4, protein expressed innucleoside diphosphate kinase D | |
| Modification date | 20180523 | |
| UniProtAcc | O00746 | |
| Context | PubMed: NME4 [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 |
| NME4 | GO:0006869 | lipid transport | 23150663 |
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Exon skipping events across known transcript of Ensembl for NME4 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 NME4 |
| 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 NME4 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_131540 | 16 | 446768:447079:448207:448385:448989:449123 | 448207:448385 | ENSG00000103202.8 | ENST00000454619.1 |
| exon_skip_131545 | 16 | 447236:447313:447878:447902:448989:449123 | 447878:447902 | ENSG00000103202.8 | ENST00000382940.4 |
| exon_skip_131554 | 16 | 447236:447313:448207:448394:448989:449123 | 448207:448394 | ENSG00000103202.8 | ENST00000448828.1 |
| exon_skip_131560 | 16 | 448992:449123:449378:449480:449626:449739 | 449378:449480 | ENSG00000103202.8 | ENST00000397722.1,ENST00000219479.2,ENST00000460297.1,ENST00000448828.1,ENST00000444498.1,ENST00000433358.1,ENST00000450036.1,ENST00000382940.4 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for NME4 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_131540 | 16 | 446768:447079:448207:448385:448989:449123 | 448207:448385 | ENSG00000103202.8 | ENST00000454619.1 |
| exon_skip_131545 | 16 | 447236:447313:447878:447902:448989:449123 | 447878:447902 | ENSG00000103202.8 | ENST00000382940.4 |
| exon_skip_131554 | 16 | 447236:447313:448207:448394:448989:449123 | 448207:448394 | ENSG00000103202.8 | ENST00000448828.1 |
| exon_skip_131560 | 16 | 448992:449123:449378:449480:449626:449739 | 449378:449480 | ENSG00000103202.8 | ENST00000397722.1,ENST00000448828.1,ENST00000444498.1,ENST00000460297.1,ENST00000382940.4,ENST00000219479.2,ENST00000433358.1,ENST00000450036.1 |
| 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 NME4 |
| 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 |
| ENST00000219479 | 449378 | 449480 | 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 |
| ENST00000219479 | 449378 | 449480 | In-frame |
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Infer the effects of exon skipping event on protein functional features for NME4 |
| 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 |
| ENST00000219479 | 1012 | 187 | 449378 | 449480 | 240 | 341 | 75 | 109 |
| 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 |
| ENST00000219479 | 1012 | 187 | 449378 | 449480 | 240 | 341 | 75 | 109 |
| 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 |
| O00746 | 75 | 109 | 106 | 113 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1EHW |
| O00746 | 75 | 109 | 93 | 93 | Binding site | Note=ATP;Ontology_term=ECO:0000250;evidence=ECO:0000250 |
| O00746 | 75 | 109 | 29 | 187 | Chain | ID=PRO_0000019432;Note=Nucleoside diphosphate kinase%2C mitochondrial |
| O00746 | 75 | 109 | 78 | 84 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1EHW |
| O00746 | 75 | 109 | 86 | 88 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1EHW |
| O00746 | 75 | 109 | 94 | 101 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1EHW |
| O00746 | 75 | 109 | 90 | 90 | Mutagenesis | Note=Abolishes cardiolipin-containing membrane binding%3B decreases lipid transfer and pro-apoptotic activity%3B does not change phosphotransfer activity. R->D;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:18635542,ECO:0000269|PubMed:2 |
| 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 |
| O00746 | 75 | 109 | 106 | 113 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1EHW |
| O00746 | 75 | 109 | 93 | 93 | Binding site | Note=ATP;Ontology_term=ECO:0000250;evidence=ECO:0000250 |
| O00746 | 75 | 109 | 29 | 187 | Chain | ID=PRO_0000019432;Note=Nucleoside diphosphate kinase%2C mitochondrial |
| O00746 | 75 | 109 | 78 | 84 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1EHW |
| O00746 | 75 | 109 | 86 | 88 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1EHW |
| O00746 | 75 | 109 | 94 | 101 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1EHW |
| O00746 | 75 | 109 | 90 | 90 | Mutagenesis | Note=Abolishes cardiolipin-containing membrane binding%3B decreases lipid transfer and pro-apoptotic activity%3B does not change phosphotransfer activity. R->D;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:18635542,ECO:0000269|PubMed:2 |
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SNVs in the skipped exons for NME4 |
| - 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 |
| BLCA | TCGA-CU-A0YR-01 | exon_skip_131560 | 449379 | 449480 | 449378 | 449378 | Splice_Site | G | A | p.A76_splice |
| - 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 |
| SUDHL16_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 449379 | 449480 | 449408 | 449408 | Frame_Shift_Del | C | - | p.Y85fs |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for NME4 |
| 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 NME4 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for NME4 |
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RelatedDrugs for NME4 |
| 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 NME4 |
| 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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