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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 NKAIN2 |
 Gene summary |
| Gene information | Gene symbol | NKAIN2 | Gene ID | 154215 |
| Gene name | sodium/potassium transporting ATPase interacting 2 | |
| Synonyms | FAM77B|NKAIP2|TCBA|TCBA1 | |
| Cytomap | 6q22.31 | |
| Type of gene | protein-coding | |
| Description | sodium/potassium-transporting ATPase subunit beta-1-interacting protein 2Na(+)/K(+)-transporting ATPase subunit beta-1-interacting protein 2Na+/K+ transporting ATPase interacting 2T-cell lymphoma breakpoint-associated target protein 1 | |
| Modification date | 20180523 | |
| UniProtAcc | Q5VXU1 | |
| Context | PubMed: NKAIN2 [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 NKAIN2 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 NKAIN2 |
| 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 NKAIN2 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_454025 | 6 | 124604150:124604288:124676412:124676493:124979331:124979532 | 124676412:124676493 | ENSG00000188580.9 | ENST00000368416.1,ENST00000545433.1,ENST00000368417.1 |
| exon_skip_454027 | 6 | 124676412:124676493:124979331:124979532:125112484:125112545 | 124979331:124979532 | ENSG00000188580.9 | ENST00000545433.1,ENST00000368417.1 |
| exon_skip_454028 | 6 | 124979331:124979532:125112484:125112545:125139532:125139614 | 125112484:125112545 | ENSG00000188580.9 | ENST00000545433.1,ENST00000368417.1 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for NKAIN2 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_454025 | 6 | 124604150:124604288:124676412:124676493:124979331:124979532 | 124676412:124676493 | ENSG00000188580.9 | ENST00000368416.1,ENST00000368417.1,ENST00000545433.1 |
| exon_skip_454027 | 6 | 124676412:124676493:124979331:124979532:125112484:125112545 | 124979331:124979532 | ENSG00000188580.9 | ENST00000368417.1,ENST00000545433.1 |
| exon_skip_454028 | 6 | 124979331:124979532:125112484:125112545:125139532:125139614 | 125112484:125112545 | ENSG00000188580.9 | ENST00000368417.1,ENST00000545433.1 |
| 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 NKAIN2 |
| 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 |
| ENST00000368417 | 125112484 | 125112545 | Frame-shift |
| ENST00000368417 | 124676412 | 124676493 | In-frame |
| ENST00000368417 | 124979331 | 124979532 | 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 |
| ENST00000368417 | 125112484 | 125112545 | Frame-shift |
| ENST00000368417 | 124676412 | 124676493 | In-frame |
| ENST00000368417 | 124979331 | 124979532 | In-frame |
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Infer the effects of exon skipping event on protein functional features for NKAIN2 |
| 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 |
| ENST00000368417 | 3132 | 208 | 124676412 | 124676493 | 253 | 333 | 64 | 91 |
| ENST00000368417 | 3132 | 208 | 124979331 | 124979532 | 334 | 534 | 91 | 158 |
| 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 |
| ENST00000368417 | 3132 | 208 | 124676412 | 124676493 | 253 | 333 | 64 | 91 |
| ENST00000368417 | 3132 | 208 | 124979331 | 124979532 | 334 | 534 | 91 | 158 |
| 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 |
| Q5VXU1 | 64 | 91 | 1 | 208 | Chain | ID=PRO_0000265088;Note=Sodium/potassium-transporting ATPase subunit beta-1-interacting protein 2 |
| Q5VXU1 | 64 | 91 | 91 | 92 | Site | Note=Breakpoint for interstitial deletion to form SUSP1-NKAIN2 |
| Q5VXU1 | 64 | 91 | 62 | 82 | Transmembrane | Note=Helical;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q5VXU1 | 91 | 158 | 1 | 208 | Chain | ID=PRO_0000265088;Note=Sodium/potassium-transporting ATPase subunit beta-1-interacting protein 2 |
| Q5VXU1 | 91 | 158 | 91 | 92 | Site | Note=Breakpoint for interstitial deletion to form SUSP1-NKAIN2 |
| Q5VXU1 | 91 | 158 | 153 | 173 | Transmembrane | Note=Helical;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 |
| Q5VXU1 | 64 | 91 | 1 | 208 | Chain | ID=PRO_0000265088;Note=Sodium/potassium-transporting ATPase subunit beta-1-interacting protein 2 |
| Q5VXU1 | 64 | 91 | 91 | 92 | Site | Note=Breakpoint for interstitial deletion to form SUSP1-NKAIN2 |
| Q5VXU1 | 64 | 91 | 62 | 82 | Transmembrane | Note=Helical;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q5VXU1 | 91 | 158 | 1 | 208 | Chain | ID=PRO_0000265088;Note=Sodium/potassium-transporting ATPase subunit beta-1-interacting protein 2 |
| Q5VXU1 | 91 | 158 | 91 | 92 | Site | Note=Breakpoint for interstitial deletion to form SUSP1-NKAIN2 |
| Q5VXU1 | 91 | 158 | 153 | 173 | Transmembrane | Note=Helical;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
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SNVs in the skipped exons for NKAIN2 |
| - 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-A1EG-01 | exon_skip_454025 | 124676413 | 124676493 | 124676479 | 124676479 | Frame_Shift_Del | G | - | p.G87fs |
| KIRC | TCGA-B8-4621-01 | exon_skip_454027 | 124979332 | 124979532 | 124979381 | 124979381 | Frame_Shift_Del | G | - | p.W108fs |
| LUAD | TCGA-55-7994-01 | exon_skip_454025 | 124676413 | 124676493 | 124676489 | 124676489 | Nonsense_Mutation | C | A | p.S90* |
| LUAD | TCGA-17-Z021-01 | exon_skip_454027 | 124979332 | 124979532 | 124979487 | 124979487 | Nonsense_Mutation | C | A | p.Y143* |
| LUSC | TCGA-22-4613-01 | exon_skip_454025 | 124676413 | 124676493 | 124676411 | 124676411 | Splice_Site | A | T | p.Y65_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 |
| OE21_OESOPHAGUS | 124676413 | 124676493 | 124676467 | 124676467 | Frame_Shift_Del | T | - | p.Y83fs |
| NCIH2172_LUNG | 124676413 | 124676493 | 124676419 | 124676419 | Missense_Mutation | G | A | p.V67I |
| NCIH1770_LUNG | 124676413 | 124676493 | 124676431 | 124676431 | Missense_Mutation | C | T | p.L71F |
| NCIH2106_LUNG | 124676413 | 124676493 | 124676431 | 124676431 | Missense_Mutation | C | T | p.L71F |
| EOL1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 124676413 | 124676493 | 124676466 | 124676466 | Missense_Mutation | C | G | p.F82L |
| KNS62_LUNG | 124979332 | 124979532 | 124979379 | 124979379 | Missense_Mutation | G | C | p.W107C |
| NCIH250_LUNG | 124979332 | 124979532 | 124979396 | 124979396 | Missense_Mutation | C | A | p.P113Q |
| HCT15_LARGE_INTESTINE | 124979332 | 124979532 | 124979431 | 124979432 | Missense_Mutation | GA | TT | p.D125F |
| MEWO_SKIN | 124979332 | 124979532 | 124979446 | 124979446 | Missense_Mutation | G | A | p.D130N |
| OCIAML3_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 124979332 | 124979532 | 124979504 | 124979504 | Missense_Mutation | C | A | p.A149D |
| JHUEM7_ENDOMETRIUM | 125112485 | 125112545 | 125112496 | 125112496 | Missense_Mutation | C | A | p.F162L |
| SARC9371_BONE | 124979332 | 124979532 | 124979332 | 124979332 | Splice_Site | G | A | p.E92K |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for NKAIN2 |
| 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 NKAIN2 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for NKAIN2 |
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RelatedDrugs for NKAIN2 |
| 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 NKAIN2 |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
| NKAIN2 | C0001973 | Alcoholic Intoxication, Chronic | 1 | PSYGENET |
Copyright 2018-Present -The University of Texas Health Science Center at Houston (UTHealth)
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