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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 NME9 |
Gene summary |
| Gene information | Gene symbol | NME9 | Gene ID | 347736 |
| Gene name | NME/NM23 family member 9 | |
| Synonyms | NM23-H9|TXL-2|TXL2|TXNDC6 | |
| Cytomap | 3q22.3 | |
| Type of gene | protein-coding | |
| Description | thioredoxin domain-containing protein 6NME gene family member 9thioredoxin-like protein 2 | |
| Modification date | 20180402 | |
| UniProtAcc | Q86XW9 | |
| Context | PubMed: NME9 [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 NME9 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 NME9 |
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 NME9 |
Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_388846 | 3 | 138022348:138022485:138023714:138023869:138024845:138024938 | 138023714:138023869 | ENSG00000181322.9 | ENST00000536478.1,ENST00000333911.3,ENST00000317876.4,ENST00000341790.5,ENST00000383180.2,ENST00000484930.1 |
| exon_skip_388847 | 3 | 138033173:138033249:138034368:138034485:138036989:138037061 | 138034368:138034485 | ENSG00000181322.9 | ENST00000333911.3,ENST00000475751.1 |
| exon_skip_388849 | 3 | 138033173:138033249:138036989:138037061:138038319:138038422 | 138036989:138037061 | ENSG00000181322.9 | ENST00000536478.1,ENST00000478220.1,ENST00000474690.1,ENST00000317876.4,ENST00000383180.2,ENST00000492993.1 |
| exon_skip_388850 | 3 | 138034368:138034485:138036989:138037061:138038319:138038422 | 138036989:138037061 | ENSG00000181322.9 | ENST00000333911.3,ENST00000475751.1 |
| exon_skip_388851 | 3 | 138038319:138038423:138043016:138043436:138043714:138043771 | 138043016:138043436 | ENSG00000181322.9 | ENST00000488716.1 |
| exon_skip_388852 | 3 | 138038319:138038423:138043714:138043772:138048144:138048181 | 138043714:138043772 | ENSG00000181322.9 | ENST00000536478.1,ENST00000478220.1,ENST00000333911.3,ENST00000341790.5,ENST00000475751.1,ENST00000484930.1 |
| exon_skip_388854 | 3 | 138043714:138043772:138045872:138045970:138048144:138048181 | 138045872:138045970 | ENSG00000181322.9 | ENST00000383180.2 |
PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for NME9 |
Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_388846 | 3 | 138022348:138022485:138023714:138023869:138024845:138024938 | 138023714:138023869 | ENSG00000181322.9 | ENST00000383180.2,ENST00000317876.4,ENST00000484930.1,ENST00000341790.5,ENST00000536478.1,ENST00000333911.3 |
| exon_skip_388847 | 3 | 138033173:138033249:138034368:138034485:138036989:138037061 | 138034368:138034485 | ENSG00000181322.9 | ENST00000333911.3,ENST00000475751.1 |
| exon_skip_388849 | 3 | 138033173:138033249:138036989:138037061:138038319:138038422 | 138036989:138037061 | ENSG00000181322.9 | ENST00000383180.2,ENST00000317876.4,ENST00000492993.1,ENST00000536478.1,ENST00000474690.1,ENST00000478220.1 |
| exon_skip_388850 | 3 | 138034368:138034485:138036989:138037061:138038319:138038422 | 138036989:138037061 | ENSG00000181322.9 | ENST00000333911.3,ENST00000475751.1 |
| exon_skip_388851 | 3 | 138038319:138038423:138043016:138043436:138043714:138043771 | 138043016:138043436 | ENSG00000181322.9 | ENST00000488716.1 |
| exon_skip_388852 | 3 | 138038319:138038423:138043714:138043772:138048144:138048181 | 138043714:138043772 | ENSG00000181322.9 | ENST00000484930.1,ENST00000341790.5,ENST00000536478.1,ENST00000333911.3,ENST00000478220.1,ENST00000475751.1 |
| exon_skip_388854 | 3 | 138043714:138043772:138045872:138045970:138048144:138048181 | 138045872:138045970 | ENSG00000181322.9 | ENST00000383180.2 |
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 NME9 |
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 |
| ENST00000333911 | 138023714 | 138023869 | Frame-shift |
| ENST00000333911 | 138043714 | 138043772 | Frame-shift |
| ENST00000333911 | 138034368 | 138034485 | In-frame |
| ENST00000333911 | 138036989 | 138037061 | 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 |
| ENST00000333911 | 138023714 | 138023869 | Frame-shift |
| ENST00000333911 | 138043714 | 138043772 | Frame-shift |
| ENST00000333911 | 138034368 | 138034485 | In-frame |
| ENST00000333911 | 138036989 | 138037061 | In-frame |
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Infer the effects of exon skipping event on protein functional features for NME9 |
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 |
| ENST00000333911 | 1298 | 330 | 138036989 | 138037061 | 224 | 295 | 65 | 89 |
| ENST00000333911 | 1298 | 330 | 138034368 | 138034485 | 296 | 412 | 89 | 128 |
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 |
| ENST00000333911 | 1298 | 330 | 138036989 | 138037061 | 224 | 295 | 65 | 89 |
| ENST00000333911 | 1298 | 330 | 138034368 | 138034485 | 296 | 412 | 89 | 128 |
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 |
| Q86XW9 | 65 | 89 | 66 | 128 | Alternative sequence | ID=VSP_010376;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|Ref.3 |
| Q86XW9 | 65 | 89 | 1 | 330 | Chain | ID=PRO_0000120161;Note=Thioredoxin domain-containing protein 6 |
| Q86XW9 | 65 | 89 | 11 | 115 | Domain | Note=Thioredoxin |
| Q86XW9 | 89 | 128 | 66 | 128 | Alternative sequence | ID=VSP_010376;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|Ref.3 |
| Q86XW9 | 89 | 128 | 90 | 128 | Alternative sequence | ID=VSP_010377;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039 |
| Q86XW9 | 89 | 128 | 1 | 330 | Chain | ID=PRO_0000120161;Note=Thioredoxin domain-containing protein 6 |
| Q86XW9 | 89 | 128 | 11 | 115 | Domain | Note=Thioredoxin |
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 |
| Q86XW9 | 65 | 89 | 66 | 128 | Alternative sequence | ID=VSP_010376;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|Ref.3 |
| Q86XW9 | 65 | 89 | 1 | 330 | Chain | ID=PRO_0000120161;Note=Thioredoxin domain-containing protein 6 |
| Q86XW9 | 65 | 89 | 11 | 115 | Domain | Note=Thioredoxin |
| Q86XW9 | 89 | 128 | 66 | 128 | Alternative sequence | ID=VSP_010376;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|Ref.3 |
| Q86XW9 | 89 | 128 | 90 | 128 | Alternative sequence | ID=VSP_010377;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039 |
| Q86XW9 | 89 | 128 | 1 | 330 | Chain | ID=PRO_0000120161;Note=Thioredoxin domain-containing protein 6 |
| Q86XW9 | 89 | 128 | 11 | 115 | Domain | Note=Thioredoxin |
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SNVs in the skipped exons for NME9 |
- 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-A1EG-01 | exon_skip_388846 | 138023715 | 138023869 | 138023752 | 138023752 | Frame_Shift_Del | G | - | p.R191fs |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_388850 exon_skip_388849 | 138036990 | 138037061 | 138036995 | 138036995 | Frame_Shift_Del | A | - | p.Y66fs |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_388850 exon_skip_388849 | 138036990 | 138037061 | 138036995 | 138036995 | Frame_Shift_Del | A | - | p.Y66fs |
| HNSC | TCGA-CV-6951-01 | exon_skip_388846 | 138023715 | 138023869 | 138023770 | 138023770 | Nonsense_Mutation | G | A | p.R185* |
| SARC | TCGA-DX-A8BT-01 | exon_skip_388850 exon_skip_388849 | 138036990 | 138037061 | 138037031 | 138037031 | Nonsense_Mutation | T | A | p.K54* |
| SARC | TCGA-DX-A8BT-01 | exon_skip_388850 exon_skip_388849 | 138036990 | 138037061 | 138037031 | 138037031 | Nonsense_Mutation | T | A | p.K76* |
- 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 |
| C125PM_LARGE_INTESTINE | 138023715 | 138023869 | 138023769 | 138023769 | Missense_Mutation | C | T | p.R246Q |
| CW2_LARGE_INTESTINE | 138023715 | 138023869 | 138023835 | 138023835 | Missense_Mutation | C | T | p.S224N |
| JHUEM7_ENDOMETRIUM | 138023715 | 138023869 | 138023858 | 138023858 | Missense_Mutation | C | A | p.E216D |
| SNU175_LARGE_INTESTINE | 138023715 | 138023869 | 138023865 | 138023865 | Missense_Mutation | G | A | p.A214V |
| SNUC2A_LARGE_INTESTINE | 138034369 | 138034485 | 138034410 | 138034410 | Missense_Mutation | C | T | p.A115T |
| SNUC2B_LARGE_INTESTINE | 138034369 | 138034485 | 138034410 | 138034410 | Missense_Mutation | C | T | p.A115T |
| UACC893_BREAST | 138036990 | 138037061 | 138036998 | 138036998 | Missense_Mutation | A | G | p.F87L |
| BE13_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 138034369 | 138034485 | 138034437 | 138034437 | Nonsense_Mutation | G | A | p.Q106* |
| NCIN87_STOMACH | 138034369 | 138034485 | 138034369 | 138034369 | Splice_Site | C | T | p.V128V |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for NME9 |
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 NME9 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for NME9 |
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RelatedDrugs for NME9 |
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 NME9 |
Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |