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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 NSL1 |
Gene summary |
Gene information | Gene symbol | NSL1 | Gene ID | 25936 |
Gene name | NSL1 component of MIS12 kinetochore complex | |
Synonyms | C1orf48|DC8|MIS14 | |
Cytomap | 1q32.3 | |
Type of gene | protein-coding | |
Description | kinetochore-associated protein NSL1 homologNSL1, MIND kinetochore complex component, homologNSL1, MIS12 kinetochore complex component | |
Modification date | 20200313 | |
UniProtAcc | ||
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 NSL1 |
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 |
PG | UP | ENST00000398275.4 | KANSL1-AS1-201:lncRNA:KANSL1 | 3.797883e+00 | 8.498229e-01 | 1.766269e-04 | 4.155716e-03 |
PG | UP | ENST00000639099.1 | KANSL1-222:lncRNA:KANSL1 | 1.060763e+01 | 1.972432e+00 | 1.786180e-03 | 2.205001e-02 |
PG | UP | ENST00000432791.6 | KANSL1-202:protein_coding:KANSL1 | 2.603284e+01 | 9.214145e-01 | 3.820192e-03 | 3.786711e-02 |
CB | DOWN | ENST00000366978.5 | NSL1-203:protein_coding:NSL1 | 1.656957e+02 | -8.851392e-01 | 1.141586e-05 | 1.177870e-04 |
CB | UP | ENST00000576137.2 | KANSL1-212:retained_intron:KANSL1 | 4.002377e+00 | 8.670249e-01 | 2.384695e-05 | 2.197426e-04 |
CB | UP | ENST00000638275.1 | KANSL1-218:protein_coding:KANSL1 | 6.156726e+01 | 8.295997e-01 | 6.249750e-03 | 2.364469e-02 |
CB | UP | ENST00000639531.1 | KANSL1-229:protein_coding:KANSL1 | 2.751724e+02 | 8.153318e-01 | 1.114939e-02 | 3.801203e-02 |
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 NSL1 |
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_108625 | chr1 | 212739534:212739601:212782372:212782426:212784363:212784493 | 212782372:212782426 |
exon_skip_132096 | chr1 | 212738562:212738686:212782372:212782426:212784363:212784493 | 212782372:212782426 |
exon_skip_21429 | chr1 | 212784363:212784493:212787559:212787637:212791530:212791581 | 212787559:212787637 |
exon_skip_39203 | chr1 | 212739534:212739601:212766189:212766273:212782372:212782426 | 212766189:212766273 |
exon_skip_45911 | chr1 | 212738562:212738686:212739534:212739601:212782372:212782426 | 212739534:212739601 |
exon_skip_75147 | chr1 | 212766189:212766273:212782372:212782426:212784363:212784493 | 212782372:212782426 |
exon_skip_96805 | chr1 | 212738562:212738686:212739534:212739601:212766189:212766273 | 212739534:212739601 |
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_45911 | Mayo_CB | 6.930488e-01 | 8.039474e-01 | -1.108986e-01 | 3.750288e-07 |
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Open reading frame (ORF) annotation in the exon skipping event for NSL1 |
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 |
ENST00000366977 | 212739534 | 212739601 | Frame-shift |
ENST00000366977 | 212782372 | 212782426 | Frame-shift |
ENST00000366977 | 212787559 | 212787637 | Frame-shift |
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 |
ENST00000366977 | 212739534 | 212739601 | Frame-shift |
ENST00000366977 | 212782372 | 212782426 | Frame-shift |
ENST00000366977 | 212787559 | 212787637 | Frame-shift |
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 |
ENST00000366977 | 212739534 | 212739601 | Frame-shift |
ENST00000366977 | 212782372 | 212782426 | Frame-shift |
ENST00000366977 | 212787559 | 212787637 | Frame-shift |
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Infer the effects of exon skipping event on protein functional features for NSL1 |
p-ENSG00000117697_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 |
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 |
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 |
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 |
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 |
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 |
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3'-UTR located exon skipping events that lost miRNA binding sites in NSL1 |
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 NSL1 |
- 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 NSL1 |
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 NSL1 |
sQTL information located at the skipped exons. |
Tissue type | Exon skip ID | SNP id | Location | P-value | FDR |
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Correlation with RNA binding proteins (RBPs) for NSL1 |
Correlated RBP and related information. |
Tissue type | RBP name | Exon skip ID | Correlation coeifficient | P-value |
CB | RBM6 | exon_skip_45911 | -4.054502e-01 | 1.259004e-07 |
CB | CNOT4 | exon_skip_45911 | -4.510549e-01 | 2.721927e-09 |
CB | SNRPA | exon_skip_45911 | -4.314238e-01 | 1.520290e-08 |
CB | HNRNPA2B1 | exon_skip_45911 | -4.113228e-01 | 7.928397e-08 |
CB | TIA1 | exon_skip_66984 | 4.208419e-01 | 5.048412e-07 |
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RelatedDrugs for NSL1 |
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 NSL1 |
Diseases associated with this gene. (DisGeNet 4.0) |
Gene | Disease ID | Disease name | # pubmeds | Source |