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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 NTM |
 Gene summary |
| Gene information | Gene symbol | NTM | Gene ID | 50863 |
| Gene name | neurotrimin | |
| Synonyms | CEPU-1|HNT|IGLON2|NTRI | |
| Cytomap | 11q25 | |
| Type of gene | protein-coding | |
| Description | neurotriminIgLON family member 2 | |
| Modification date | 20180522 | |
| UniProtAcc | Q9P121 | |
| Context | PubMed: NTM [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 NTM 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 NTM |
| 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 NTM |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_66844 | 11 | 131240701:131240783:131530822:131530942:131781457:131781510 | 131530822:131530942 | ENSG00000182667.10 | ENST00000436745.1 |
| exon_skip_66851 | 11 | 131781457:131781542:132016175:132016408:132081915:132082041 | 132016175:132016408 | ENSG00000182667.10 | ENST00000550167.1,ENST00000539799.1,ENST00000374786.1,ENST00000427481.2,ENST00000425719.2,ENST00000374791.3,ENST00000374784.1 |
| exon_skip_66852 | 11 | 132016175:132016408:132081915:132082041:132177582:132177656 | 132081915:132082041 | ENSG00000182667.10 | ENST00000550167.1,ENST00000539799.1,ENST00000374786.1,ENST00000427481.2,ENST00000425719.2,ENST00000374791.3,ENST00000374784.1,ENST00000467255.1 |
| exon_skip_66853 | 11 | 132081915:132082041:132176188:132176362:132177582:132177656 | 132176188:132176362 | ENSG00000182667.10 | ENST00000482316.1 |
| exon_skip_66854 | 11 | 132177582:132177717:132180005:132180126:132184445:132184493 | 132180005:132180126 | ENSG00000182667.10 | ENST00000498764.1,ENST00000539799.1,ENST00000374786.1,ENST00000427481.2,ENST00000425719.2,ENST00000496094.1,ENST00000374791.3,ENST00000374784.1,ENST00000467255.1 |
| exon_skip_66856 | 11 | 132180089:132180126:132182558:132182676:132184445:132184493 | 132182558:132182676 | ENSG00000182667.10 | ENST00000474900.1 |
| exon_skip_66858 | 11 | 132184445:132184597:132187548:132187584:132200046:132200079 | 132187548:132187584 | ENSG00000182667.10 | ENST00000457381.1 |
| exon_skip_66861 | 11 | 132184445:132184597:132200046:132200079:132204939:132204945 | 132200046:132200079 | ENSG00000182667.10 | ENST00000539799.1,ENST00000427481.2,ENST00000425719.2 |
| exon_skip_66863 | 11 | 132187548:132187584:132200046:132200079:132204939:132204945 | 132200046:132200079 | ENSG00000182667.10 | ENST00000457381.1 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for NTM |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_66844 | 11 | 131240701:131240783:131530822:131530942:131781457:131781510 | 131530822:131530942 | ENSG00000182667.10 | ENST00000436745.1 |
| exon_skip_66851 | 11 | 131781457:131781542:132016175:132016408:132081915:132082041 | 132016175:132016408 | ENSG00000182667.10 | ENST00000374791.3,ENST00000539799.1,ENST00000550167.1,ENST00000427481.2,ENST00000374786.1,ENST00000425719.2,ENST00000374784.1 |
| exon_skip_66852 | 11 | 132016175:132016408:132081915:132082041:132177582:132177656 | 132081915:132082041 | ENSG00000182667.10 | ENST00000374791.3,ENST00000539799.1,ENST00000550167.1,ENST00000427481.2,ENST00000374786.1,ENST00000425719.2,ENST00000374784.1,ENST00000467255.1 |
| exon_skip_66853 | 11 | 132081915:132082041:132176188:132176362:132177582:132177656 | 132176188:132176362 | ENSG00000182667.10 | ENST00000482316.1 |
| exon_skip_66854 | 11 | 132177582:132177717:132180005:132180126:132184445:132184493 | 132180005:132180126 | ENSG00000182667.10 | ENST00000374791.3,ENST00000539799.1,ENST00000427481.2,ENST00000498764.1,ENST00000374786.1,ENST00000425719.2,ENST00000374784.1,ENST00000467255.1,ENST00000496094.1 |
| exon_skip_66856 | 11 | 132180089:132180126:132182558:132182676:132184445:132184493 | 132182558:132182676 | ENSG00000182667.10 | ENST00000474900.1 |
| exon_skip_66858 | 11 | 132184445:132184597:132187548:132187584:132200046:132200079 | 132187548:132187584 | ENSG00000182667.10 | ENST00000457381.1 |
| exon_skip_66861 | 11 | 132184445:132184597:132200046:132200079:132204939:132204945 | 132200046:132200079 | ENSG00000182667.10 | ENST00000539799.1,ENST00000427481.2,ENST00000425719.2 |
| exon_skip_66863 | 11 | 132187548:132187584:132200046:132200079:132204939:132204945 | 132200046:132200079 | ENSG00000182667.10 | ENST00000457381.1 |
| 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 NTM |
| 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 |
| ENST00000374786 | 132016175 | 132016408 | Frame-shift |
| ENST00000374786 | 132180005 | 132180126 | Frame-shift |
| ENST00000374786 | 132081915 | 132082041 | 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 |
| ENST00000374786 | 132016175 | 132016408 | Frame-shift |
| ENST00000374786 | 132180005 | 132180126 | Frame-shift |
| ENST00000374786 | 132081915 | 132082041 | In-frame |
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Infer the effects of exon skipping event on protein functional features for NTM |
| 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 |
| ENST00000374786 | 3207 | 344 | 132081915 | 132082041 | 880 | 1005 | 133 | 175 |
| 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 |
| ENST00000374786 | 3207 | 344 | 132081915 | 132082041 | 880 | 1005 | 133 | 175 |
| 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 |
| Q9P121 | 133 | 175 | 34 | 321 | Chain | ID=PRO_0000015110;Note=Neurotrimin |
| Q9P121 | 133 | 175 | 157 | 201 | Disulfide bond | Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00114 |
| Q9P121 | 133 | 175 | 136 | 218 | Domain | Note=Ig-like C2-type 2 |
| Q9P121 | 133 | 175 | 152 | 152 | Glycosylation | Note=N-linked (GlcNAc...) asparagine;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 |
| Q9P121 | 133 | 175 | 34 | 321 | Chain | ID=PRO_0000015110;Note=Neurotrimin |
| Q9P121 | 133 | 175 | 157 | 201 | Disulfide bond | Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00114 |
| Q9P121 | 133 | 175 | 136 | 218 | Domain | Note=Ig-like C2-type 2 |
| Q9P121 | 133 | 175 | 152 | 152 | Glycosylation | Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
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SNVs in the skipped exons for NTM |
| - 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_66844 | 131530823 | 131530942 | 131530906 | 131530906 | Frame_Shift_Del | G | - | p.G7fs |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_66844 | 131530823 | 131530942 | 131530906 | 131530906 | Frame_Shift_Del | G | - | p.G7fs |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_66854 | 132180006 | 132180126 | 132180018 | 132180018 | Frame_Shift_Del | T | - | p.I225fs |
| BRCA | TCGA-E2-A15T-01 | exon_skip_66854 | 132180006 | 132180126 | 132180029 | 132180029 | Frame_Shift_Del | A | - | p.K229fs |
| LIHC | TCGA-DD-A1EG-01 | exon_skip_66854 | 132180006 | 132180126 | 132180043 | 132180043 | Frame_Shift_Del | C | - | p.V233fs |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_66854 | 132180006 | 132180126 | 132180058 | 132180058 | Frame_Shift_Del | G | - | p.K238fs |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_66854 | 132180006 | 132180126 | 132180122 | 132180122 | Frame_Shift_Del | A | - | p.K260fs |
| LIHC | TCGA-DD-A39Y-01 | exon_skip_66863 exon_skip_66861 | 132200047 | 132200079 | 132200062 | 132200062 | Frame_Shift_Del | C | - | p.A317fs |
| HNSC | TCGA-CV-7089-01 | exon_skip_66851 | 132016176 | 132016408 | 132016253 | 132016253 | Nonsense_Mutation | G | A | p.W82* |
| BLCA | TCGA-DK-AA75-01 | exon_skip_66852 | 132081916 | 132082041 | 132081933 | 132081933 | Nonsense_Mutation | G | T | p.E140* |
| HNSC | TCGA-CR-6478-01 | exon_skip_66852 | 132081916 | 132082041 | 132081943 | 132081943 | Nonsense_Mutation | C | G | p.S143* |
| LIHC | TCGA-DD-AACI-01 | exon_skip_66852 | 132081916 | 132082041 | 132081914 | 132081914 | Splice_Site | A | T | . |
| BLCA | TCGA-G2-A2EJ-01 | exon_skip_66852 | 132081916 | 132082041 | 132082042 | 132082042 | Splice_Site | G | A | p.A176_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 |
| NCIH1703_LUNG | 132016176 | 132016408 | 132016319 | 132016320 | In_Frame_Ins | - | GTT | p.104_104N>KF |
| SNU81_LARGE_INTESTINE | 131530823 | 131530942 | 131530901 | 131530901 | Missense_Mutation | G | T | p.R5I |
| HN_UPPER_AERODIGESTIVE_TRACT | 132016176 | 132016408 | 132016181 | 132016181 | Missense_Mutation | C | A | p.T58N |
| SKMES1_LUNG | 132016176 | 132016408 | 132016202 | 132016202 | Missense_Mutation | G | C | p.R65P |
| HCC2998_LARGE_INTESTINE | 132016176 | 132016408 | 132016226 | 132016226 | Missense_Mutation | C | T | p.T73I |
| NCIH446_LUNG | 132016176 | 132016408 | 132016294 | 132016294 | Missense_Mutation | A | T | p.T96S |
| NCIH2126_LUNG | 132016176 | 132016408 | 132016339 | 132016339 | Missense_Mutation | G | T | p.G111C |
| CW2_LARGE_INTESTINE | 132016176 | 132016408 | 132016340 | 132016340 | Missense_Mutation | G | A | p.G111D |
| SNU1041_UPPER_AERODIGESTIVE_TRACT | 132016176 | 132016408 | 132016362 | 132016362 | Missense_Mutation | G | C | p.Q118H |
| DU145_PROSTATE | 132016176 | 132016408 | 132016380 | 132016380 | Missense_Mutation | G | T | p.K124N |
| CORL88_LUNG | 132081916 | 132082041 | 132081945 | 132081945 | Missense_Mutation | G | T | p.D144Y |
| SNUC1_LARGE_INTESTINE | 132081916 | 132082041 | 132081946 | 132081946 | Missense_Mutation | A | C | p.D144A |
| PK59_PANCREAS | 132081916 | 132082041 | 132082012 | 132082012 | Missense_Mutation | C | T | p.T166M |
| NCIH520_LUNG | 132081916 | 132082041 | 132082033 | 132082033 | Missense_Mutation | C | G | p.S173C |
| L82_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 132180006 | 132180126 | 132180008 | 132180008 | Missense_Mutation | C | T | p.P222S |
| NCIH2291_LUNG | 132180006 | 132180126 | 132180031 | 132180031 | Missense_Mutation | G | T | p.K229N |
| COGN278_AUTONOMIC_GANGLIA | 132180006 | 132180126 | 132180063 | 132180063 | Missense_Mutation | C | T | p.T240I |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for NTM |
| 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 NTM |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for NTM |
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RelatedDrugs for NTM |
| 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 NTM |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
| NTM | C0041696 | Unipolar Depression | 1 | PSYGENET |
| NTM | C1269683 | Major Depressive Disorder | 1 | PSYGENET |
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