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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 JAKMIP3 |
 Gene summary |
| Gene information | Gene symbol | JAKMIP3 | Gene ID | 282973 |
| Gene name | Janus kinase and microtubule interacting protein 3 | |
| Synonyms | C10orf14|C10orf39|Jamip3|NECC2|bA140A10.5 | |
| Cytomap | 10q26.3 | |
| Type of gene | protein-coding | |
| Description | janus kinase and microtubule-interacting protein 3neuroendocrine long coiled-coil 2neuroendocrine long coiled-coil protein 2 | |
| Modification date | 20180329 | |
| UniProtAcc | Q5VZ66 | |
| Context | PubMed: JAKMIP3 [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 JAKMIP3 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 JAKMIP3 |
| 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 JAKMIP3 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_46511 | 10 | 133930580:133931078:133946815:133947031:133948544:133948664 | 133946815:133947031 | ENSG00000188385.7 | ENST00000298622.4 |
| exon_skip_46515 | 10 | 133967416:133967494:133976712:133976916:133978173:133978239 | 133976712:133976916 | ENSG00000188385.7 | ENST00000477275.1,ENST00000298622.4 |
| exon_skip_46516 | 10 | 133978173:133978239:133980486:133980559:133981456:133982537 | 133980486:133980559 | ENSG00000188385.7 | ENST00000298622.4 |
| exon_skip_46517 | 10 | 133978173:133978239:133980517:133980559:133981456:133982537 | 133980517:133980559 | ENSG00000188385.7 | ENST00000477275.1 |
| exon_skip_46519 | 10 | 133981841:133982537:133983359:133983756:133995860:133998313 | 133983359:133983756 | ENSG00000188385.7 | ENST00000298622.4 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for JAKMIP3 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_46511 | 10 | 133930580:133931078:133946815:133947031:133948544:133948664 | 133946815:133947031 | ENSG00000188385.7 | ENST00000298622.4 |
| exon_skip_46515 | 10 | 133967416:133967494:133976712:133976916:133978173:133978239 | 133976712:133976916 | ENSG00000188385.7 | ENST00000298622.4,ENST00000477275.1 |
| exon_skip_46516 | 10 | 133978173:133978239:133980486:133980559:133981456:133982537 | 133980486:133980559 | ENSG00000188385.7 | ENST00000298622.4 |
| exon_skip_46517 | 10 | 133978173:133978239:133980517:133980559:133981456:133982537 | 133980517:133980559 | ENSG00000188385.7 | ENST00000477275.1 |
| exon_skip_46519 | 10 | 133981841:133982537:133983359:133983756:133995860:133998313 | 133983359:133983756 | ENSG00000188385.7 | ENST00000298622.4 |
| 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 JAKMIP3 |
| 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 |
| ENST00000298622 | 133980486 | 133980559 | 3UTR-3CDS |
| ENST00000298622 | 133983359 | 133983756 | 3UTR-3UTR |
| ENST00000298622 | 133946815 | 133947031 | In-frame |
| ENST00000298622 | 133976712 | 133976916 | 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 |
| ENST00000298622 | 133980486 | 133980559 | 3UTR-3CDS |
| ENST00000298622 | 133983359 | 133983756 | 3UTR-3UTR |
| ENST00000298622 | 133946815 | 133947031 | In-frame |
| ENST00000298622 | 133976712 | 133976916 | In-frame |
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Infer the effects of exon skipping event on protein functional features for JAKMIP3 |
| 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 |
| ENST00000298622 | 6643 | 844 | 133946815 | 133947031 | 772 | 987 | 211 | 283 |
| ENST00000298622 | 6643 | 844 | 133976712 | 133976916 | 2353 | 2556 | 738 | 806 |
| 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 |
| ENST00000298622 | 6643 | 844 | 133946815 | 133947031 | 772 | 987 | 211 | 283 |
| ENST00000298622 | 6643 | 844 | 133976712 | 133976916 | 2353 | 2556 | 738 | 806 |
| 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 |
| Q5VZ66 | 211 | 283 | 1 | 563 | Alternative sequence | ID=VSP_031998;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:17974005;Dbxref=PMID:17974005 |
| Q5VZ66 | 211 | 283 | 1 | 844 | Chain | ID=PRO_0000323011;Note=Janus kinase and microtubule-interacting protein 3 |
| Q5VZ66 | 211 | 283 | 8 | 258 | Coiled coil | Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q5VZ66 | 738 | 806 | 1 | 844 | Chain | ID=PRO_0000323011;Note=Janus kinase and microtubule-interacting protein 3 |
| Q5VZ66 | 738 | 806 | 683 | 834 | Coiled coil | Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q5VZ66 | 738 | 806 | 795 | 795 | Natural variant | ID=VAR_039473;Note=In a breast cancer sample%3B somatic mutation. R->G;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:16959974;Dbxref=PMID:16959974 |
| 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 |
| Q5VZ66 | 211 | 283 | 1 | 563 | Alternative sequence | ID=VSP_031998;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:17974005;Dbxref=PMID:17974005 |
| Q5VZ66 | 211 | 283 | 1 | 844 | Chain | ID=PRO_0000323011;Note=Janus kinase and microtubule-interacting protein 3 |
| Q5VZ66 | 211 | 283 | 8 | 258 | Coiled coil | Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q5VZ66 | 738 | 806 | 1 | 844 | Chain | ID=PRO_0000323011;Note=Janus kinase and microtubule-interacting protein 3 |
| Q5VZ66 | 738 | 806 | 683 | 834 | Coiled coil | Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q5VZ66 | 738 | 806 | 795 | 795 | Natural variant | ID=VAR_039473;Note=In a breast cancer sample%3B somatic mutation. R->G;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:16959974;Dbxref=PMID:16959974 |
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SNVs in the skipped exons for JAKMIP3 |
| - 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_46516 | 133980487 | 133980559 | 133980505 | 133980505 | Frame_Shift_Del | T | - | p.F836fs |
| LIHC | TCGA-DD-A39Y-01 | exon_skip_46516 | 133980487 | 133980559 | 133980505 | 133980505 | Frame_Shift_Del | T | - | p.F836fs |
| CESC | TCGA-UC-A7PF-01 | exon_skip_46511 | 133946816 | 133947031 | 133946876 | 133946876 | Nonsense_Mutation | C | T | p.Q232* |
| SARC | TCGA-DX-A8BT-01 | exon_skip_46515 | 133976713 | 133976916 | 133976911 | 133976911 | Nonsense_Mutation | C | T | p.Q805* |
| HNSC | TCGA-BA-5152-01 | exon_skip_46511 | 133946816 | 133947031 | 133946815 | 133946815 | Splice_Site | G | C | p.M212_splice |
| UCEC | TCGA-B5-A11G-01 | exon_skip_46516 | 133980487 | 133980559 | 133980485 | 133980485 | Splice_Site | A | C | e21-2 |
| - 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 |
| DOK_UPPER_AERODIGESTIVE_TRACT | 133946816 | 133947031 | 133946820 | 133946820 | Missense_Mutation | A | C | p.E213A |
| BICR18_UPPER_AERODIGESTIVE_TRACT | 133946816 | 133947031 | 133946829 | 133946829 | Missense_Mutation | A | G | p.K216R |
| DAUDI_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 133946816 | 133947031 | 133946829 | 133946829 | Missense_Mutation | A | G | p.K216R |
| SCC3_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 133946816 | 133947031 | 133946870 | 133946870 | Missense_Mutation | G | T | p.G230W |
| EW18_BONE | 133946816 | 133947031 | 133946882 | 133946882 | Missense_Mutation | G | A | p.G234R |
| EN_ENDOMETRIUM | 133946816 | 133947031 | 133946892 | 133946892 | Missense_Mutation | A | G | p.Q237R |
| CCFSTTG1_CENTRAL_NERVOUS_SYSTEM | 133946816 | 133947031 | 133946913 | 133946913 | Missense_Mutation | A | C | p.E244A |
| OVISE_OVARY | 133946816 | 133947031 | 133946943 | 133946943 | Missense_Mutation | G | A | p.R254Q |
| CW2_LARGE_INTESTINE | 133976713 | 133976916 | 133976796 | 133976796 | Missense_Mutation | G | T | p.E766D |
| RS411_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 133976713 | 133976916 | 133976857 | 133976857 | Missense_Mutation | C | T | p.R787C |
| HCC1395_BREAST | 133976713 | 133976916 | 133976881 | 133976881 | Missense_Mutation | C | G | p.R795G |
| MCAS_OVARY | 133946816 | 133947031 | 133946891 | 133946891 | Nonsense_Mutation | C | T | p.Q237* |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for JAKMIP3 |
| 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 JAKMIP3 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for JAKMIP3 |
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RelatedDrugs for JAKMIP3 |
| 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 JAKMIP3 |
| 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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