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Open reading frame (ORF) annotation in the exon skipping event | |
3'-UTR located exon skipping events lost miRNA binding sites | |
Splicing Quantitative Trait Loci (sQTLs) in the skipped exons | |
Gene summary for NIN |
Gene summary |
Gene information | Gene symbol | NIN | Gene ID | 51199 |
Gene name | ninein | |
Synonyms | SCKL7 | |
Cytomap | 14q22.1 | |
Type of gene | protein-coding | |
Description | nineinglycogen synthase kinase 3 beta-interacting proteinhNineinninein (GSK3B interacting protein)ninein centrosomal protein | |
Modification date | 20200328 | |
UniProtAcc | A0A0B4J215, | |
Context |
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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Gene structures and expression levels for NIN |
Skipped exons in the ROSMAP, MSBB, and Mayo 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. |
Differentially expressed gene analysis across multiple brain tissues between AD and control. |
Tissue type | DEG direction | Base mean exp. | log2FC(AD/control) | P-value | Adj. p-value |
Differentially expressed isoform analysis across multiple brain tissues between AD and control. |
Tissue type | DEG direction | ENST | Transcript info. | Base mean exp. | log2FC(AD/control) | P-value | Adjc. p-value |
STG | UP | ENST00000530997.6 | NIN-217:protein_coding:NIN | 4.737957e+01 | 1.070332e+01 | 7.264283e-11 | 9.926037e-08 |
STG | UP | ENST00000382041.7 | NIN-203:protein_coding:NIN | 5.619539e+01 | 8.549829e+00 | 4.817176e-08 | 4.487911e-05 |
Landscape of isoform expressions across multiple brain tissues between AD and control. |
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Exon skipping events with PSIs in ROSMAP, MSBB, and Mayo for NIN |
Landscape of individual exon skipping event across AD tissues and controls (PSI heatmap). |
All exon skipping events in AD cohorts. |
Exon skip ID | chr | Exons involved in exon skipping | Skipped exon |
exon_skip_11218 | chr14 | 50754745:50754867:50756492:50758630:50759857:50760359 | 50756492:50758630 |
exon_skip_112524 | chr14 | 50792050:50792261:50792460:50792513:50792712:50792881 | 50792460:50792513 |
exon_skip_142107 | chr14 | 50806737:50806818:50821874:50822077:50830464:50830479 | 50821874:50822077 |
exon_skip_149578 | chr14 | 50754742:50754867:50756492:50758630:50759857:50760215 | 50756492:50758630 |
exon_skip_14995 | chr14 | 50754742:50754867:50756492:50758630:50759857:50760359 | 50756492:50758630 |
exon_skip_208294 | chr14 | 50754742:50754867:50759857:50760359:50761790:50761911 | 50759857:50760359 |
exon_skip_22382 | chr14 | 50792046:50792261:50792460:50792513:50792712:50792881 | 50792460:50792513 |
exon_skip_228887 | chr14 | 50763826:50763964:50766307:50766396:50766780:50766795 | 50766307:50766396 |
exon_skip_233871 | chr14 | 50729523:50729723:50730923:50730983:50735516:50735542 | 50730923:50730983 |
exon_skip_235246 | chr14 | 50729523:50729723:50730923:50730983:50735516:50735617 | 50730923:50730983 |
exon_skip_262243 | chr14 | 50821874:50822077:50830464:50830517:50831006:50831046 | 50830464:50830517 |
exon_skip_262880 | chr14 | 50729523:50729723:50730923:50730983:50735516:50735560 | 50730923:50730983 |
exon_skip_276945 | chr14 | 50747992:50748105:50752518:50752733:50754563:50754632 | 50752518:50752733 |
exon_skip_294210 | chr14 | 50771332:50771468:50772301:50772468:50772949:50772998 | 50772301:50772468 |
exon_skip_294759 | chr14 | 50743416:50743529:50744243:50744365:50747992:50748105 | 50744243:50744365 |
exon_skip_41149 | chr14 | 50806737:50806818:50821874:50822000:50830464:50830479 | 50821874:50822000 |
exon_skip_6955 | chr14 | 50739372:50739487:50741582:50741728:50743416:50743529 | 50741582:50741728 |
exon_skip_98748 | chr14 | 50806737:50806818:50821874:50822000:50830464:50830517 | 50821874:50822000 |
Differentially expressed PSI values of individual exon skipping events in multiple brain tissues between AD and control. |
Exon skipping information | Tissue type | Avg(PSIs) in AD | Avg(PSIs) in control | Difference (PSI) | Adj. p-value |
exon_skip_294759 | Mayo_CB | 8.216250e-01 | 9.307463e-01 | -1.091213e-01 | 1.176158e-07 |
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Open reading frame (ORF) annotation in the exon skipping event for NIN |
Open reading frame (ORF) of individual exon skipping events in ROSMAP based on the Ensembl gene structure combined from isoforms. |
ENST | Start of skipped exon | End of skipped exon | ORF |
ENST00000382041 | 50821874 | 50822077 | 3UTR-3CDS |
ENST00000382041 | 50830464 | 50830517 | 3UTR-3UTR |
ENST00000382041 | 50741582 | 50741728 | In-frame |
ENST00000382041 | 50744243 | 50744365 | In-frame |
ENST00000382041 | 50752518 | 50752733 | In-frame |
ENST00000382041 | 50756492 | 50758630 | In-frame |
ENST00000382041 | 50766307 | 50766396 | In-frame |
Open reading frame (ORF) of individual exon skipping events in MSBB based on the Ensembl gene structure combined from isoforms. |
ENST | Start of skipped exon | End of skipped exon | ORF |
ENST00000382041 | 50821874 | 50822077 | 3UTR-3CDS |
ENST00000382041 | 50744243 | 50744365 | In-frame |
ENST00000382041 | 50752518 | 50752733 | In-frame |
ENST00000382041 | 50756492 | 50758630 | In-frame |
ENST00000382041 | 50766307 | 50766396 | In-frame |
ENST00000382041 | 50772301 | 50772468 | In-frame |
Open reading frame (ORF) of individual exon skipping events in Mayo based on the Ensembl gene structure combined from isoforms. |
ENST | Start of skipped exon | End of skipped exon | ORF |
ENST00000382041 | 50821874 | 50822077 | 3UTR-3CDS |
ENST00000382041 | 50830464 | 50830517 | 3UTR-3UTR |
ENST00000382041 | 50741582 | 50741728 | In-frame |
ENST00000382041 | 50744243 | 50744365 | In-frame |
ENST00000382041 | 50752518 | 50752733 | In-frame |
ENST00000382041 | 50756492 | 50758630 | In-frame |
ENST00000382041 | 50766307 | 50766396 | In-frame |
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Infer the effects of exon skipping event on protein functional features for NIN |
p-ENSG00000100503_img4.png |
Loci of skipped exons in ROSMAP 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 |
ENST00000382041 | 6513 | 2090 | 50766307 | 50766396 | 1737 | 1825 | 515 | 544 |
ENST00000382041 | 6513 | 2090 | 50756492 | 50758630 | 2591 | 4728 | 800 | 1512 |
ENST00000382041 | 6513 | 2090 | 50752518 | 50752733 | 4926 | 5140 | 1578 | 1649 |
ENST00000382041 | 6513 | 2090 | 50744243 | 50744365 | 5256 | 5377 | 1688 | 1728 |
ENST00000382041 | 6513 | 2090 | 50741582 | 50741728 | 5493 | 5638 | 1767 | 1815 |
Loci of skipped exons in MSBB 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 |
ENST00000382041 | 6513 | 2090 | 50772301 | 50772468 | 1005 | 1171 | 271 | 326 |
ENST00000382041 | 6513 | 2090 | 50766307 | 50766396 | 1737 | 1825 | 515 | 544 |
ENST00000382041 | 6513 | 2090 | 50756492 | 50758630 | 2591 | 4728 | 800 | 1512 |
ENST00000382041 | 6513 | 2090 | 50752518 | 50752733 | 4926 | 5140 | 1578 | 1649 |
ENST00000382041 | 6513 | 2090 | 50744243 | 50744365 | 5256 | 5377 | 1688 | 1728 |
Loci of skipped exons in Mayo 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 |
ENST00000382041 | 6513 | 2090 | 50766307 | 50766396 | 1737 | 1825 | 515 | 544 |
ENST00000382041 | 6513 | 2090 | 50756492 | 50758630 | 2591 | 4728 | 800 | 1512 |
ENST00000382041 | 6513 | 2090 | 50752518 | 50752733 | 4926 | 5140 | 1578 | 1649 |
ENST00000382041 | 6513 | 2090 | 50744243 | 50744365 | 5256 | 5377 | 1688 | 1728 |
ENST00000382041 | 6513 | 2090 | 50741582 | 50741728 | 5493 | 5638 | 1767 | 1815 |
Lost protein functional features of individual exon skipping events in ROSMAP. |
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 |
Q8N4C6 | 515 | 544 | 1 | 2090 | Chain | ID=PRO_0000096844;Note=Ninein |
Q8N4C6 | 515 | 544 | 357 | 570 | Coiled coil | Ontology_term=ECO:0000255;evidence=ECO:0000255 |
Q8N4C6 | 800 | 1512 | 800 | 1512 | Alternative sequence | ID=VSP_010953;Note=In isoform 6 and isoform 9. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:10997877,ECO:0000303|PubMed:15489334;Dbxref=PMID:10997877,PMID:15489334 |
Q8N4C6 | 800 | 1512 | 1 | 2090 | Chain | ID=PRO_0000096844;Note=Ninein |
Q8N4C6 | 800 | 1512 | 625 | 1027 | Coiled coil | Ontology_term=ECO:0000255;evidence=ECO:0000255 |
Q8N4C6 | 800 | 1512 | 1068 | 1099 | Coiled coil | Ontology_term=ECO:0000255;evidence=ECO:0000255 |
Q8N4C6 | 800 | 1512 | 1181 | 1341 | Coiled coil | Ontology_term=ECO:0000255;evidence=ECO:0000255 |
Q8N4C6 | 800 | 1512 | 1441 | 1816 | Coiled coil | Ontology_term=ECO:0000255;evidence=ECO:0000255 |
Q8N4C6 | 800 | 1512 | 1111 | 1111 | Natural variant | ID=VAR_019453;Note=P->A;Dbxref=dbSNP:rs2236316 |
Q8N4C6 | 800 | 1512 | 1125 | 1125 | Natural variant | ID=VAR_051235;Note=Q->P;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:11004522,ECO:0000269|PubMed:11162463,ECO:0000269|PubMed:15190203;Dbxref=dbSNP:rs12882191,PMID:11004522,PMID:11162463,PMID:15190203 |
Q8N4C6 | 800 | 1512 | 1222 | 1222 | Natural variant | ID=VAR_069083;Note=In SCKL7%3B does not disrupt protein expression or localization or affect mitotic functions in an obvious way. Q->R;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:22933543;Dbxref=dbSNP:rs187464517,PMID:22933543 |
Q8N4C6 | 800 | 1512 | 1320 | 1320 | Natural variant | ID=VAR_019454;Note=G->E;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:11004522,ECO:0000269|PubMed:11162463,ECO:0000269|PubMed:15190203,ECO:0000269|PubMed:18987736;Dbxref=dbSNP:rs2073347,PMID:11004522,PMID:111624 |
Q8N4C6 | 800 | 1512 | 802 | 1505 | Region | Note=Important for interaction with CEP170;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:Q61043 |
Q8N4C6 | 800 | 1512 | 809 | 809 | Sequence conflict | Note=R->I;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
Q8N4C6 | 800 | 1512 | 812 | 812 | Sequence conflict | Note=S->T;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
Q8N4C6 | 800 | 1512 | 945 | 945 | Sequence conflict | Note=K->I;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
Q8N4C6 | 800 | 1512 | 977 | 977 | Sequence conflict | Note=D->A;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
Q8N4C6 | 800 | 1512 | 980 | 980 | Sequence conflict | Note=R->G;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
Q8N4C6 | 800 | 1512 | 1054 | 1054 | Sequence conflict | Note=Q->H;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
Q8N4C6 | 800 | 1512 | 1067 | 1067 | Sequence conflict | Note=L->F;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
Q8N4C6 | 800 | 1512 | 1070 | 1070 | Sequence conflict | Note=L->Q;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
Q8N4C6 | 800 | 1512 | 1150 | 1150 | Sequence conflict | Note=D->G;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
Q8N4C6 | 800 | 1512 | 1237 | 1237 | Sequence conflict | Note=M->I;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
Q8N4C6 | 1578 | 1649 | 1 | 2090 | Chain | ID=PRO_0000096844;Note=Ninein |
Q8N4C6 | 1578 | 1649 | 1441 | 1816 | Coiled coil | Ontology_term=ECO:0000255;evidence=ECO:0000255 |
Q8N4C6 | 1688 | 1728 | 1 | 2090 | Chain | ID=PRO_0000096844;Note=Ninein |
Q8N4C6 | 1688 | 1728 | 1441 | 1816 | Coiled coil | Ontology_term=ECO:0000255;evidence=ECO:0000255 |
Q8N4C6 | 1688 | 1728 | 1709 | 1709 | Natural variant | ID=VAR_069084;Note=In SCKL7%3B does not disrupt protein expression or localization or affect mitotic functions in an obvious way. N->S;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:22933543;Dbxref=dbSNP:rs387907308,PMID:22933543 |
Q8N4C6 | 1767 | 1815 | 1 | 2090 | Chain | ID=PRO_0000096844;Note=Ninein |
Q8N4C6 | 1767 | 1815 | 1441 | 1816 | Coiled coil | Ontology_term=ECO:0000255;evidence=ECO:0000255 |
Lost protein functional features of individual exon skipping events in MSBB. |
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 |
Q8N4C6 | 271 | 326 | 1 | 2090 | Chain | ID=PRO_0000096844;Note=Ninein |
Q8N4C6 | 271 | 326 | 317 | 352 | Domain | Note=EF-hand 5;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00448 |
Q8N4C6 | 271 | 326 | 300 | 304 | Nucleotide binding | Note=GTP;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
Q8N4C6 | 271 | 326 | 295 | 295 | Sequence conflict | Note=F->I;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
Q8N4C6 | 515 | 544 | 1 | 2090 | Chain | ID=PRO_0000096844;Note=Ninein |
Q8N4C6 | 515 | 544 | 357 | 570 | Coiled coil | Ontology_term=ECO:0000255;evidence=ECO:0000255 |
Q8N4C6 | 800 | 1512 | 800 | 1512 | Alternative sequence | ID=VSP_010953;Note=In isoform 6 and isoform 9. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:10997877,ECO:0000303|PubMed:15489334;Dbxref=PMID:10997877,PMID:15489334 |
Q8N4C6 | 800 | 1512 | 1 | 2090 | Chain | ID=PRO_0000096844;Note=Ninein |
Q8N4C6 | 800 | 1512 | 625 | 1027 | Coiled coil | Ontology_term=ECO:0000255;evidence=ECO:0000255 |
Q8N4C6 | 800 | 1512 | 1068 | 1099 | Coiled coil | Ontology_term=ECO:0000255;evidence=ECO:0000255 |
Q8N4C6 | 800 | 1512 | 1181 | 1341 | Coiled coil | Ontology_term=ECO:0000255;evidence=ECO:0000255 |
Q8N4C6 | 800 | 1512 | 1441 | 1816 | Coiled coil | Ontology_term=ECO:0000255;evidence=ECO:0000255 |
Q8N4C6 | 800 | 1512 | 1111 | 1111 | Natural variant | ID=VAR_019453;Note=P->A;Dbxref=dbSNP:rs2236316 |
Q8N4C6 | 800 | 1512 | 1125 | 1125 | Natural variant | ID=VAR_051235;Note=Q->P;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:11004522,ECO:0000269|PubMed:11162463,ECO:0000269|PubMed:15190203;Dbxref=dbSNP:rs12882191,PMID:11004522,PMID:11162463,PMID:15190203 |
Q8N4C6 | 800 | 1512 | 1222 | 1222 | Natural variant | ID=VAR_069083;Note=In SCKL7%3B does not disrupt protein expression or localization or affect mitotic functions in an obvious way. Q->R;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:22933543;Dbxref=dbSNP:rs187464517,PMID:22933543 |
Q8N4C6 | 800 | 1512 | 1320 | 1320 | Natural variant | ID=VAR_019454;Note=G->E;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:11004522,ECO:0000269|PubMed:11162463,ECO:0000269|PubMed:15190203,ECO:0000269|PubMed:18987736;Dbxref=dbSNP:rs2073347,PMID:11004522,PMID:111624 |
Q8N4C6 | 800 | 1512 | 802 | 1505 | Region | Note=Important for interaction with CEP170;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:Q61043 |
Q8N4C6 | 800 | 1512 | 809 | 809 | Sequence conflict | Note=R->I;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
Q8N4C6 | 800 | 1512 | 812 | 812 | Sequence conflict | Note=S->T;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
Q8N4C6 | 800 | 1512 | 945 | 945 | Sequence conflict | Note=K->I;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
Q8N4C6 | 800 | 1512 | 977 | 977 | Sequence conflict | Note=D->A;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
Q8N4C6 | 800 | 1512 | 980 | 980 | Sequence conflict | Note=R->G;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
Q8N4C6 | 800 | 1512 | 1054 | 1054 | Sequence conflict | Note=Q->H;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
Q8N4C6 | 800 | 1512 | 1067 | 1067 | Sequence conflict | Note=L->F;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
Q8N4C6 | 800 | 1512 | 1070 | 1070 | Sequence conflict | Note=L->Q;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
Q8N4C6 | 800 | 1512 | 1150 | 1150 | Sequence conflict | Note=D->G;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
Q8N4C6 | 800 | 1512 | 1237 | 1237 | Sequence conflict | Note=M->I;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
Q8N4C6 | 1578 | 1649 | 1 | 2090 | Chain | ID=PRO_0000096844;Note=Ninein |
Q8N4C6 | 1578 | 1649 | 1441 | 1816 | Coiled coil | Ontology_term=ECO:0000255;evidence=ECO:0000255 |
Q8N4C6 | 1688 | 1728 | 1 | 2090 | Chain | ID=PRO_0000096844;Note=Ninein |
Q8N4C6 | 1688 | 1728 | 1441 | 1816 | Coiled coil | Ontology_term=ECO:0000255;evidence=ECO:0000255 |
Q8N4C6 | 1688 | 1728 | 1709 | 1709 | Natural variant | ID=VAR_069084;Note=In SCKL7%3B does not disrupt protein expression or localization or affect mitotic functions in an obvious way. N->S;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:22933543;Dbxref=dbSNP:rs387907308,PMID:22933543 |
Lost protein functional features of individual exon skipping events in Mayo. |
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 |
Q8N4C6 | 515 | 544 | 1 | 2090 | Chain | ID=PRO_0000096844;Note=Ninein |
Q8N4C6 | 515 | 544 | 357 | 570 | Coiled coil | Ontology_term=ECO:0000255;evidence=ECO:0000255 |
Q8N4C6 | 800 | 1512 | 800 | 1512 | Alternative sequence | ID=VSP_010953;Note=In isoform 6 and isoform 9. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:10997877,ECO:0000303|PubMed:15489334;Dbxref=PMID:10997877,PMID:15489334 |
Q8N4C6 | 800 | 1512 | 1 | 2090 | Chain | ID=PRO_0000096844;Note=Ninein |
Q8N4C6 | 800 | 1512 | 625 | 1027 | Coiled coil | Ontology_term=ECO:0000255;evidence=ECO:0000255 |
Q8N4C6 | 800 | 1512 | 1068 | 1099 | Coiled coil | Ontology_term=ECO:0000255;evidence=ECO:0000255 |
Q8N4C6 | 800 | 1512 | 1181 | 1341 | Coiled coil | Ontology_term=ECO:0000255;evidence=ECO:0000255 |
Q8N4C6 | 800 | 1512 | 1441 | 1816 | Coiled coil | Ontology_term=ECO:0000255;evidence=ECO:0000255 |
Q8N4C6 | 800 | 1512 | 1111 | 1111 | Natural variant | ID=VAR_019453;Note=P->A;Dbxref=dbSNP:rs2236316 |
Q8N4C6 | 800 | 1512 | 1125 | 1125 | Natural variant | ID=VAR_051235;Note=Q->P;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:11004522,ECO:0000269|PubMed:11162463,ECO:0000269|PubMed:15190203;Dbxref=dbSNP:rs12882191,PMID:11004522,PMID:11162463,PMID:15190203 |
Q8N4C6 | 800 | 1512 | 1222 | 1222 | Natural variant | ID=VAR_069083;Note=In SCKL7%3B does not disrupt protein expression or localization or affect mitotic functions in an obvious way. Q->R;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:22933543;Dbxref=dbSNP:rs187464517,PMID:22933543 |
Q8N4C6 | 800 | 1512 | 1320 | 1320 | Natural variant | ID=VAR_019454;Note=G->E;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:11004522,ECO:0000269|PubMed:11162463,ECO:0000269|PubMed:15190203,ECO:0000269|PubMed:18987736;Dbxref=dbSNP:rs2073347,PMID:11004522,PMID:111624 |
Q8N4C6 | 800 | 1512 | 802 | 1505 | Region | Note=Important for interaction with CEP170;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:Q61043 |
Q8N4C6 | 800 | 1512 | 809 | 809 | Sequence conflict | Note=R->I;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
Q8N4C6 | 800 | 1512 | 812 | 812 | Sequence conflict | Note=S->T;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
Q8N4C6 | 800 | 1512 | 945 | 945 | Sequence conflict | Note=K->I;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
Q8N4C6 | 800 | 1512 | 977 | 977 | Sequence conflict | Note=D->A;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
Q8N4C6 | 800 | 1512 | 980 | 980 | Sequence conflict | Note=R->G;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
Q8N4C6 | 800 | 1512 | 1054 | 1054 | Sequence conflict | Note=Q->H;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
Q8N4C6 | 800 | 1512 | 1067 | 1067 | Sequence conflict | Note=L->F;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
Q8N4C6 | 800 | 1512 | 1070 | 1070 | Sequence conflict | Note=L->Q;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
Q8N4C6 | 800 | 1512 | 1150 | 1150 | Sequence conflict | Note=D->G;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
Q8N4C6 | 800 | 1512 | 1237 | 1237 | Sequence conflict | Note=M->I;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
Q8N4C6 | 1578 | 1649 | 1 | 2090 | Chain | ID=PRO_0000096844;Note=Ninein |
Q8N4C6 | 1578 | 1649 | 1441 | 1816 | Coiled coil | Ontology_term=ECO:0000255;evidence=ECO:0000255 |
Q8N4C6 | 1688 | 1728 | 1 | 2090 | Chain | ID=PRO_0000096844;Note=Ninein |
Q8N4C6 | 1688 | 1728 | 1441 | 1816 | Coiled coil | Ontology_term=ECO:0000255;evidence=ECO:0000255 |
Q8N4C6 | 1688 | 1728 | 1709 | 1709 | Natural variant | ID=VAR_069084;Note=In SCKL7%3B does not disrupt protein expression or localization or affect mitotic functions in an obvious way. N->S;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:22933543;Dbxref=dbSNP:rs387907308,PMID:22933543 |
Q8N4C6 | 1767 | 1815 | 1 | 2090 | Chain | ID=PRO_0000096844;Note=Ninein |
Q8N4C6 | 1767 | 1815 | 1441 | 1816 | Coiled coil | Ontology_term=ECO:0000255;evidence=ECO:0000255 |
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3'-UTR located exon skipping events that lost miRNA binding sites in NIN |
3'-UTR exon skipping evnets lost miRNA binding. |
Tissue type | ENST | Exon skip start | Exon skip end | microRNA | Binding site by TargetScan | Binding type by TargetScan | Bdinding site by miRanda | Score of miRanda | Energy by miRanda |
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SNVs in the skipped exons for NIN |
- Differential PSIs between mutated versus non-mutated samples. |
- Depth of Coverage in the skipped exon of the mutated samples. |
- Sashimi plot in the skipped exon of the mutated samples. |
- Non-synonymous mutations located in the skipped exons. |
Cancer type | Sample | ESID | Skipped exon start | Skipped exon end | Mutation start | Mutation end | Mutation type | Reference seq | Mutation seq | AAchange |
- 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 |
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AD stage-associated exon skippint events for NIN |
Associated exon skipping events with Braak staging or Clinical Dementia Rating (CDR). |
AD stage info | Cohort | Tissue | SE id | Coefficient | P-value | Chromosome | Strand | E1 start | E1 end | Skipped start | Skipped end | E2 start | E2 end |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for NIN |
sQTL information located at the skipped exons. |
Tissue type | Exon skip ID | SNP id | Location | P-value | FDR |
TC | exon_skip_294759 | rs11624766 | chr14:50748212 | 2.145556e-04 | 3.003688e-02 |
PCC | exon_skip_294759 | rs1014990 | chr14:50778402 | 3.889987e-08 | 2.027782e-05 |
PCC | exon_skip_294759 | rs10144234 | chr14:50705501 | 2.024780e-07 | 8.663421e-05 |
PCC | exon_skip_294759 | rs3015469 | chr14:50690442 | 8.104282e-05 | 1.455938e-02 |
PCC | exon_skip_294759 | rs2065081 | chr14:50784204 | 2.273390e-04 | 3.301685e-02 |
PCC | exon_skip_149578 | rs10140023 | chr14:50721623 | 3.323439e-04 | 4.423996e-02 |
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Correlation with RNA binding proteins (RBPs) for NIN |
Correlated RBP and related information. |
Tissue type | RBP name | Exon skip ID | Correlation coeifficient | P-value |
CB | DAZAP1 | exon_skip_294759 | -4.389784e-01 | 2.669385e-08 |
CB | TARDBP | exon_skip_294759 | -4.879242e-01 | 3.647545e-10 |
CB | TRA2A | exon_skip_294759 | -6.345962e-01 | 6.124065e-18 |
CB | NUP42 | exon_skip_294759 | 5.566163e-01 | 2.473402e-13 |
CB | RBM4B | exon_skip_294759 | -5.046600e-01 | 7.145413e-11 |
CB | RALYL | exon_skip_149578 | -4.819175e-01 | 1.445517e-09 |
CB | TRA2A | exon_skip_228887 | -4.288197e-01 | 3.942906e-08 |
CB | RBM45 | exon_skip_228887 | 4.143950e-01 | 1.225621e-07 |
FL | MSI1 | exon_skip_14995 | 4.060210e-01 | 1.204128e-07 |
FL | ELAVL4 | exon_skip_14995 | -4.537012e-01 | 2.140435e-09 |
FL | G3BP2 | exon_skip_14995 | -4.315064e-01 | 1.509656e-08 |
FL | KHDRBS2 | exon_skip_14995 | -4.190293e-01 | 4.263030e-08 |
FL | KHDRBS3 | exon_skip_14995 | -4.399640e-01 | 7.290320e-09 |
FL | RALYL | exon_skip_14995 | -4.289362e-01 | 1.876067e-08 |
HCC | MSI1 | exon_skip_235246 | -4.810944e-01 | 4.188164e-17 |
HCC | SFPQ | exon_skip_235246 | -4.005674e-01 | 7.243243e-12 |
HCC | UNK | exon_skip_235246 | -4.518411e-01 | 4.860405e-15 |
HCC | RBMS2 | exon_skip_14995 | 4.910518e-01 | 2.284189e-17 |
HCC | RBFOX2 | exon_skip_14995 | -5.255773e-01 | 4.426892e-20 |
HCC | MSI1 | exon_skip_14995 | 5.232763e-01 | 6.864773e-20 |
HCC | ZNF326 | exon_skip_14995 | 4.207837e-01 | 1.040876e-12 |
HCC | SFPQ | exon_skip_14995 | 4.155184e-01 | 2.113983e-12 |
HCC | RBM6 | exon_skip_14995 | 4.540788e-01 | 8.772432e-15 |
HCC | SAMD4A | exon_skip_14995 | 5.195490e-01 | 1.387379e-19 |
HCC | RBM5 | exon_skip_14995 | 4.112897e-01 | 3.701375e-12 |
HCC | G3BP2 | exon_skip_14995 | -4.106806e-01 | 4.009789e-12 |
HCC | KHDRBS2 | exon_skip_14995 | -4.182487e-01 | 1.466263e-12 |
HCC | PTBP1 | exon_skip_14995 | 5.327357e-01 | 1.106674e-20 |
HCC | SRSF4 | exon_skip_14995 | 4.121112e-01 | 3.321803e-12 |
HCC | HNRNPF | exon_skip_14995 | 4.848104e-01 | 6.564176e-17 |
HCC | ZC3H10 | exon_skip_14995 | 4.572105e-01 | 5.446417e-15 |
HCC | RBM4B | exon_skip_14995 | 4.173353e-01 | 1.657780e-12 |
IFG | RBM24 | exon_skip_235246 | 5.778878e-01 | 1.279425e-03 |
IFG | RBFOX2 | exon_skip_14995 | -5.806026e-01 | 2.342474e-03 |
IFG | ELAVL4 | exon_skip_14995 | -6.532746e-01 | 3.991064e-04 |
IFG | IGF2BP2 | exon_skip_14995 | 4.239132e-01 | 3.470334e-02 |
IFG | RBM46 | exon_skip_14995 | 4.027050e-01 | 4.594877e-02 |
IFG | G3BP2 | exon_skip_14995 | -4.916954e-01 | 1.254729e-02 |
IFG | KHDRBS2 | exon_skip_14995 | -5.605019e-01 | 3.565012e-03 |
IFG | KHDRBS3 | exon_skip_14995 | -5.450397e-01 | 4.840011e-03 |
IFG | HNRNPA0 | exon_skip_14995 | -4.852914e-01 | 1.393220e-02 |
IFG | RALYL | exon_skip_14995 | -5.264852e-01 | 6.858046e-03 |
IFG | YBX2 | exon_skip_14995 | -4.074017e-01 | 4.324045e-02 |
IFG | NOVA1 | exon_skip_14995 | -6.713784e-01 | 2.385382e-04 |
PCC | RBFOX2 | exon_skip_149578 | -5.850867e-01 | 1.174926e-18 |
PCC | ELAVL4 | exon_skip_149578 | -5.796420e-01 | 2.894281e-18 |
PCC | RBM47 | exon_skip_149578 | 4.403130e-01 | 2.565087e-10 |
PCC | G3BP2 | exon_skip_149578 | -6.193862e-01 | 2.664722e-21 |
PCC | PUM1 | exon_skip_149578 | -4.915951e-01 | 7.853484e-13 |
PCC | RALYL | exon_skip_149578 | -5.467179e-01 | 4.798290e-16 |
PCC | PTBP1 | exon_skip_149578 | 4.598598e-01 | 3.160748e-11 |
PCC | CPEB1 | exon_skip_149578 | -4.647346e-01 | 1.836082e-11 |
PCC | NOVA1 | exon_skip_149578 | -4.351540e-01 | 4.361403e-10 |
PG | TARDBP | exon_skip_235246 | 5.960757e-01 | 4.341204e-16 |
PG | SFPQ | exon_skip_235246 | 5.402224e-01 | 5.720437e-13 |
PG | RBM24 | exon_skip_235246 | 7.098911e-01 | 9.338255e-25 |
PG | SRSF9 | exon_skip_235246 | 5.684600e-01 | 1.793134e-14 |
PG | EIF4B | exon_skip_235246 | 4.102610e-01 | 1.388512e-07 |
TC | RBM24 | exon_skip_233871 | 7.945006e-01 | 2.127279e-35 |
TC | RBMS2 | exon_skip_11218 | 4.364692e-01 | 5.053789e-08 |
TC | RBFOX2 | exon_skip_11218 | -7.890706e-01 | 1.228932e-31 |
TC | MSI1 | exon_skip_11218 | 4.774820e-01 | 1.641771e-09 |
TC | ELAVL4 | exon_skip_11218 | -7.801632e-01 | 1.614115e-30 |
TC | ILF2 | exon_skip_11218 | -4.273428e-01 | 1.020773e-07 |
TC | G3BP2 | exon_skip_11218 | -6.786893e-01 | 1.230380e-20 |
TC | KHDRBS2 | exon_skip_11218 | -7.819416e-01 | 9.746615e-31 |
TC | KHDRBS3 | exon_skip_11218 | -7.122591e-01 | 1.982801e-23 |
TC | RBM24 | exon_skip_11218 | -6.943860e-01 | 6.789497e-22 |
TC | HNRNPA0 | exon_skip_11218 | -6.386615e-01 | 9.363389e-18 |
TC | PUM1 | exon_skip_11218 | -6.132161e-01 | 3.916426e-16 |
TC | HNRNPD | exon_skip_11218 | -5.281557e-01 | 1.210309e-11 |
TC | NUP42 | exon_skip_11218 | -6.157648e-01 | 2.735675e-16 |
TC | RALYL | exon_skip_11218 | -8.084474e-01 | 2.875323e-34 |
TC | PTBP1 | exon_skip_11218 | 5.076164e-01 | 9.762956e-11 |
TC | PTBP3 | exon_skip_11218 | -4.505501e-01 | 1.639072e-08 |
TC | CELF1 | exon_skip_11218 | -5.196685e-01 | 2.916872e-11 |
TC | CPEB1 | exon_skip_11218 | -5.456578e-01 | 1.822816e-12 |
TC | HNRNPH2 | exon_skip_11218 | -6.365427e-01 | 1.294867e-17 |
TC | ESRP1 | exon_skip_11218 | -5.592239e-01 | 3.890065e-13 |
TC | NOVA1 | exon_skip_11218 | -5.810911e-01 | 2.769744e-14 |
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RelatedDrugs for NIN |
Approved drugs targeting this gene. (DrugBank Version 5.1.0 2018-04-02) |
UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
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RelatedDiseases for NIN |
Diseases associated with this gene. (DisGeNet 4.0) |
Gene | Disease ID | Disease name | # pubmeds | Source |