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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 NMI |
 Gene summary |
| Gene information | Gene symbol | NMI | Gene ID | 9111 |
| Gene name | N-myc and STAT interactor | |
| Synonyms | - | |
| Cytomap | 2q23.3 | |
| Type of gene | protein-coding | |
| Description | N-myc-interactor | |
| Modification date | 20180527 | |
| UniProtAcc | Q13287 | |
| Context | PubMed: NMI [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 NMI 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 NMI |
| 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 NMI |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_343923 | 2 | 152126978:152127389:152128139:152128246:152131997:152132184 | 152128139:152128246 | ENSG00000123609.6 | ENST00000243346.5 |
| exon_skip_343926 | 2 | 152131997:152132184:152132271:152132378:152135341:152135504 | 152132271:152132378 | ENSG00000123609.6 | ENST00000243346.5 |
| exon_skip_343928 | 2 | 152135341:152135504:152138461:152138557:152139381:152139468 | 152138461:152138557 | ENSG00000123609.6 | ENST00000243346.5 |
| exon_skip_343929 | 2 | 152135341:152135504:152139381:152139468:152146106:152146377 | 152139381:152139468 | ENSG00000123609.6 | ENST00000491771.1 |
| exon_skip_343931 | 2 | 152139381:152139468:152145404:152145591:152146106:152146377 | 152145404:152145591 | ENSG00000123609.6 | ENST00000414946.1 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for NMI |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_343923 | 2 | 152126978:152127389:152128139:152128246:152131997:152132184 | 152128139:152128246 | ENSG00000123609.6 | ENST00000243346.5 |
| exon_skip_343926 | 2 | 152131997:152132184:152132271:152132378:152135341:152135504 | 152132271:152132378 | ENSG00000123609.6 | ENST00000243346.5 |
| exon_skip_343928 | 2 | 152135341:152135504:152138461:152138557:152139381:152139468 | 152138461:152138557 | ENSG00000123609.6 | ENST00000243346.5 |
| exon_skip_343929 | 2 | 152135341:152135504:152139381:152139468:152146106:152146377 | 152139381:152139468 | ENSG00000123609.6 | ENST00000491771.1 |
| exon_skip_343931 | 2 | 152139381:152139468:152145404:152145591:152146106:152146377 | 152145404:152145591 | ENSG00000123609.6 | ENST00000414946.1 |
| 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 NMI |
| 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 |
| ENST00000243346 | 152128139 | 152128246 | Frame-shift |
| ENST00000243346 | 152132271 | 152132378 | Frame-shift |
| ENST00000243346 | 152138461 | 152138557 | 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 |
| ENST00000243346 | 152128139 | 152128246 | Frame-shift |
| ENST00000243346 | 152132271 | 152132378 | Frame-shift |
| ENST00000243346 | 152138461 | 152138557 | In-frame |
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Infer the effects of exon skipping event on protein functional features for NMI |
| 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 |
| ENST00000243346 | 1640 | 307 | 152138461 | 152138557 | 553 | 648 | 27 | 59 |
| 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 |
| ENST00000243346 | 1640 | 307 | 152138461 | 152138557 | 553 | 648 | 27 | 59 |
| 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 |
| Q13287 | 27 | 59 | 1 | 307 | Chain | ID=PRO_0000159702;Note=N-myc-interactor |
| Q13287 | 27 | 59 | 41 | 41 | Sequence conflict | Note=K->R;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| 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 |
| Q13287 | 27 | 59 | 1 | 307 | Chain | ID=PRO_0000159702;Note=N-myc-interactor |
| Q13287 | 27 | 59 | 41 | 41 | Sequence conflict | Note=K->R;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
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SNVs in the skipped exons for NMI |
| - 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. |
NMI_HNSC_exon_skip_343928_psi_boxplot.png |
NMI_LIHC_exon_skip_343928_psi_boxplot.png |
| - 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-A3A0-01 | exon_skip_343923 | 152128140 | 152128246 | 152128147 | 152128147 | Frame_Shift_Del | T | - | p.K245fs |
| BLCA | TCGA-E7-A97Q-01 | exon_skip_343923 | 152128140 | 152128246 | 152128201 | 152128201 | Frame_Shift_Del | T | - | p.N227fs |
| UCEC | TCGA-BG-A0MQ-01 | exon_skip_343926 | 152132272 | 152132378 | 152132369 | 152132369 | Frame_Shift_Del | T | - | p.N117fs |
| LIHC | TCGA-DD-A39Y-01 | exon_skip_343928 | 152138462 | 152138557 | 152138502 | 152138502 | Frame_Shift_Del | T | - | p.K46fs |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_343929 | 152139382 | 152139468 | 152139425 | 152139425 | Frame_Shift_Del | T | - | p.K13fs |
| BLCA | TCGA-ZF-A9RF-01 | exon_skip_343926 | 152132272 | 152132378 | 152132274 | 152132274 | Nonsense_Mutation | G | A | p.Q149* |
| LUSC | TCGA-60-2698-01 | exon_skip_343926 | 152132272 | 152132378 | 152132274 | 152132274 | Nonsense_Mutation | G | A | p.Q149* |
| LUSC | TCGA-63-5131-01 | exon_skip_343929 | 152139382 | 152139468 | 152139423 | 152139423 | Nonsense_Mutation | C | A | p.E14* |
| HNSC | TCGA-CR-7388-01 | exon_skip_343928 | 152138462 | 152138557 | 152138558 | 152138558 | Splice_Site | C | T | p.G28_splice |
| - Depth of coverage in the three exons composing exon skipping event |
| Depth of coverage in three exons | Mutation description |
 | Sample: TCGA-CR-7388-01 |
| Cancer type: HNSC | |
| ESID: exon_skip_343928 | |
| Skipped exon start: 152138462 | |
| Skipped exon end: 152138557 | |
| Mutation start: 152138558 | |
| Mutation end: 152138558 | |
| Mutation type: Splice_Site | |
| Reference seq: C | |
| Mutation seq: T | |
| AAchange: p.G28_splice | |
exon_skip_103045_HNSC_TCGA-CR-7388-01.png | |
exon_skip_343928_HNSC_TCGA-CR-7388-01.png | |
| - 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 |
| L428_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 152139382 | 152139468 | 152139437 | 152139438 | Frame_Shift_Del | TG | - | p.Q10fs |
| CAOV3_OVARY | 152128140 | 152128246 | 152128160 | 152128160 | Missense_Mutation | T | C | p.I241V |
| AU565_BREAST | 152128140 | 152128246 | 152128162 | 152128162 | Missense_Mutation | T | A | p.E240V |
| SKBR3_BREAST | 152128140 | 152128246 | 152128162 | 152128162 | Missense_Mutation | T | A | p.E240V |
| AGS_STOMACH | 152128140 | 152128246 | 152128190 | 152128190 | Missense_Mutation | G | C | p.H231D |
| A375_SKIN | 152128140 | 152128246 | 152128240 | 152128240 | Missense_Mutation | T | C | p.D214G |
| CHL1_SKIN | 152128140 | 152128246 | 152128240 | 152128240 | Missense_Mutation | T | C | p.D214G |
| COLO205_LARGE_INTESTINE | 152128140 | 152128246 | 152128240 | 152128240 | Missense_Mutation | T | C | p.D214G |
| COLO320_LARGE_INTESTINE | 152128140 | 152128246 | 152128240 | 152128240 | Missense_Mutation | T | C | p.D214G |
| COLO800_SKIN | 152128140 | 152128246 | 152128240 | 152128240 | Missense_Mutation | T | C | p.D214G |
| DMS53_LUNG | 152128140 | 152128246 | 152128240 | 152128240 | Missense_Mutation | T | C | p.D214G |
| GAK_SKIN | 152128140 | 152128246 | 152128240 | 152128240 | Missense_Mutation | T | C | p.D214G |
| HCT116_LARGE_INTESTINE | 152128140 | 152128246 | 152128240 | 152128240 | Missense_Mutation | T | C | p.D214G |
| HCT15_LARGE_INTESTINE | 152128140 | 152128246 | 152128240 | 152128240 | Missense_Mutation | T | C | p.D214G |
| HT29_LARGE_INTESTINE | 152128140 | 152128246 | 152128240 | 152128240 | Missense_Mutation | T | C | p.D214G |
| LS1034_LARGE_INTESTINE | 152128140 | 152128246 | 152128240 | 152128240 | Missense_Mutation | T | C | p.D214G |
| LS513_LARGE_INTESTINE | 152128140 | 152128246 | 152128240 | 152128240 | Missense_Mutation | T | C | p.D214G |
| MELJUSO_SKIN | 152128140 | 152128246 | 152128240 | 152128240 | Missense_Mutation | T | C | p.D214G |
| NAMALWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 152128140 | 152128246 | 152128240 | 152128240 | Missense_Mutation | T | C | p.D214G |
| NCIH1694_LUNG | 152128140 | 152128246 | 152128240 | 152128240 | Missense_Mutation | T | C | p.D214G |
| NCIH2052_PLEURA | 152128140 | 152128246 | 152128240 | 152128240 | Missense_Mutation | T | C | p.D214G |
| NCIH378_LUNG | 152128140 | 152128246 | 152128240 | 152128240 | Missense_Mutation | T | C | p.D214G |
| NCIH716_LARGE_INTESTINE | 152128140 | 152128246 | 152128240 | 152128240 | Missense_Mutation | T | C | p.D214G |
| RCM1_LARGE_INTESTINE | 152128140 | 152128246 | 152128240 | 152128240 | Missense_Mutation | T | C | p.D214G |
| SNUC2B_LARGE_INTESTINE | 152128140 | 152128246 | 152128240 | 152128240 | Missense_Mutation | T | C | p.D214G |
| SW1116_LARGE_INTESTINE | 152128140 | 152128246 | 152128240 | 152128240 | Missense_Mutation | T | C | p.D214G |
| SW1463_LARGE_INTESTINE | 152128140 | 152128246 | 152128240 | 152128240 | Missense_Mutation | T | C | p.D214G |
| NKL_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 152132272 | 152132378 | 152132347 | 152132347 | Missense_Mutation | A | C | p.H124Q |
| 639V_URINARY_TRACT | 152132272 | 152132378 | 152132354 | 152132354 | Missense_Mutation | C | T | p.S122N |
| HEC108_ENDOMETRIUM | 152132272 | 152132378 | 152132366 | 152132366 | Missense_Mutation | A | G | p.V118A |
| MESSA_SOFT_TISSUE | 152138462 | 152138557 | 152138499 | 152138499 | Missense_Mutation | A | C | p.L47R |
| HEC251_ENDOMETRIUM | 152138462 | 152138557 | 152138534 | 152138534 | Missense_Mutation | C | A | p.K35N |
| KELLY_AUTONOMIC_GANGLIA | 152139382 | 152139468 | 152139423 | 152139423 | Missense_Mutation | C | G | p.E14Q |
| DJM1_SKIN | 152138462 | 152138557 | 152138462 | 152138462 | Splice_Site | C | T | p.Q59Q |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for NMI |
| 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 NMI |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for NMI |
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RelatedDrugs for NMI |
| 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 NMI |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
| NMI | C0023893 | Liver Cirrhosis, Experimental | 1 | CTD_human |
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