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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 NSD2 |
Gene summary |
Gene information | Gene symbol | NSD2 | Gene ID | 7468 |
Gene name | nuclear receptor binding SET domain protein 2 | |
Synonyms | KMT3F|KMT3G|MMSET|REIIBP|TRX5|WHS|WHSC1 | |
Cytomap | 4p16.3 | |
Type of gene | protein-coding | |
Description | histone-lysine N-methyltransferase NSD2IL5 promoter REII region-binding proteinWolf-Hirschhorn syndrome candidate 1multiple myeloma SET domain containing protein type IIInuclear SET domain-containing protein 2probable histone-lysine N-methyltransfera | |
Modification date | 20200329 | |
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 NSD2 |
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 | ENST00000503128.5 | NSD2-212:protein_coding:NSD2 | 3.395739e+01 | 7.979551e+00 | 8.392937e-09 | 9.972390e-06 |
CB | DOWN | ENST00000382891.9 | NSD2-204:protein_coding:NSD2 | 2.262318e+02 | -1.452816e+00 | 1.382010e-04 | 9.752427e-04 |
CB | UP | ENST00000515806.1 | NSD2-227:protein_coding:NSD2 | 1.027950e+00 | 1.036056e+00 | 1.226102e-02 | 4.102858e-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 NSD2 |
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_101163 | chr4 | 1935144:1935262:1938451:1938532:1939654:1939778 | 1938451:1938532 |
exon_skip_106414 | chr4 | 1939752:1939778:1942339:1942565:1951072:1951180 | 1942339:1942565 |
exon_skip_108544 | chr4 | 1892845:1892891:1893730:1893909:1899221:1899395 | 1893730:1893909 |
exon_skip_11590 | chr4 | 1900650:1901251:1904216:1904378:1916871:1917037 | 1904216:1904378 |
exon_skip_125041 | chr4 | 1904216:1904378:1916871:1917037:1918141:1918199 | 1916871:1917037 |
exon_skip_147741 | chr4 | 1951072:1951203:1952108:1952231:1953324:1953446 | 1952108:1952231 |
exon_skip_158461 | chr4 | 1871461:1871542:1892166:1892263:1893730:1893822 | 1892166:1892263 |
exon_skip_197210 | chr4 | 1904216:1904378:1912091:1912194:1916871:1917037 | 1912091:1912194 |
exon_skip_200331 | chr4 | 1904216:1904378:1912091:1912194:1916871:1916993 | 1912091:1912194 |
exon_skip_231484 | chr4 | 1892782:1892891:1893730:1893909:1899221:1899395 | 1893730:1893909 |
exon_skip_252273 | chr4 | 1953324:1953524:1954537:1954685:1955161:1955340 | 1954537:1954685 |
exon_skip_25739 | chr4 | 1892782:1892891:1899221:1899395:1900626:1901251 | 1899221:1899395 |
exon_skip_274803 | chr4 | 1955983:1956188:1957933:1958036:1959471:1959740 | 1957933:1958036 |
exon_skip_277519 | chr4 | 1935144:1935262:1939654:1939778:1951072:1951180 | 1939654:1939778 |
exon_skip_284080 | chr4 | 1892845:1892891:1899221:1899395:1900626:1900766 | 1899221:1899395 |
exon_skip_291385 | chr4 | 1938451:1938532:1939654:1939778:1951072:1951180 | 1939654:1939778 |
exon_skip_52345 | chr4 | 1939752:1939778:1942339:1942432:1951072:1951180 | 1942339:1942432 |
exon_skip_56593 | chr4 | 1893730:1893909:1899221:1899395:1900626:1900766 | 1899221:1899395 |
exon_skip_67399 | chr4 | 1939752:1939778:1942339:1942432:1951072:1951203 | 1942339:1942432 |
exon_skip_69263 | chr4 | 1871461:1871542:1892166:1892263:1893730:1893909 | 1892166:1892263 |
exon_skip_75467 | chr4 | 1892166:1892263:1893730:1893909:1900626:1900766 | 1893730:1893909 |
exon_skip_83716 | chr4 | 1953324:1953524:1954537:1954685:1955161:1955221 | 1954537:1954685 |
exon_skip_85921 | chr4 | 1939752:1939778:1942339:1942565:1951072:1951203 | 1942339:1942565 |
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 |
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Open reading frame (ORF) annotation in the exon skipping event for NSD2 |
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 |
ENST00000382895 | 1893730 | 1893909 | 5UTR-5UTR |
ENST00000382892 | 1899221 | 1899395 | 5UTR-5UTR |
ENST00000382895 | 1899221 | 1899395 | 5UTR-5UTR |
ENST00000382891 | 1904216 | 1904378 | Frame-shift |
ENST00000382892 | 1904216 | 1904378 | Frame-shift |
ENST00000382895 | 1904216 | 1904378 | Frame-shift |
ENST00000508803 | 1904216 | 1904378 | Frame-shift |
ENST00000382891 | 1916871 | 1917037 | Frame-shift |
ENST00000382892 | 1916871 | 1917037 | Frame-shift |
ENST00000382895 | 1916871 | 1917037 | Frame-shift |
ENST00000508803 | 1916871 | 1917037 | Frame-shift |
ENST00000382891 | 1938451 | 1938532 | Frame-shift |
ENST00000382892 | 1938451 | 1938532 | Frame-shift |
ENST00000382895 | 1938451 | 1938532 | Frame-shift |
ENST00000508803 | 1938451 | 1938532 | 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 |
ENST00000382895 | 1899221 | 1899395 | 5UTR-5UTR |
ENST00000382891 | 1916871 | 1917037 | Frame-shift |
ENST00000382892 | 1916871 | 1917037 | Frame-shift |
ENST00000382895 | 1916871 | 1917037 | Frame-shift |
ENST00000508803 | 1916871 | 1917037 | Frame-shift |
ENST00000382891 | 1938451 | 1938532 | Frame-shift |
ENST00000382892 | 1938451 | 1938532 | Frame-shift |
ENST00000382895 | 1938451 | 1938532 | Frame-shift |
ENST00000508803 | 1938451 | 1938532 | 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 |
ENST00000382895 | 1893730 | 1893909 | 5UTR-5UTR |
ENST00000382892 | 1899221 | 1899395 | 5UTR-5UTR |
ENST00000382895 | 1899221 | 1899395 | 5UTR-5UTR |
ENST00000382891 | 1904216 | 1904378 | Frame-shift |
ENST00000382892 | 1904216 | 1904378 | Frame-shift |
ENST00000382895 | 1904216 | 1904378 | Frame-shift |
ENST00000508803 | 1904216 | 1904378 | Frame-shift |
ENST00000382891 | 1916871 | 1917037 | Frame-shift |
ENST00000382892 | 1916871 | 1917037 | Frame-shift |
ENST00000382895 | 1916871 | 1917037 | Frame-shift |
ENST00000508803 | 1916871 | 1917037 | Frame-shift |
ENST00000382891 | 1938451 | 1938532 | Frame-shift |
ENST00000382892 | 1938451 | 1938532 | Frame-shift |
ENST00000382895 | 1938451 | 1938532 | Frame-shift |
ENST00000508803 | 1938451 | 1938532 | Frame-shift |
ENST00000382891 | 1939654 | 1939778 | Frame-shift |
ENST00000382892 | 1939654 | 1939778 | Frame-shift |
ENST00000382895 | 1939654 | 1939778 | Frame-shift |
ENST00000508803 | 1939654 | 1939778 | Frame-shift |
ENST00000382891 | 1952108 | 1952231 | Frame-shift |
ENST00000382892 | 1952108 | 1952231 | Frame-shift |
ENST00000382895 | 1952108 | 1952231 | Frame-shift |
ENST00000508803 | 1952108 | 1952231 | Frame-shift |
ENST00000382891 | 1957933 | 1958036 | Frame-shift |
ENST00000382892 | 1957933 | 1958036 | Frame-shift |
ENST00000382895 | 1957933 | 1958036 | Frame-shift |
ENST00000508803 | 1957933 | 1958036 | Frame-shift |
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Infer the effects of exon skipping event on protein functional features for NSD2 |
p-ENSG00000109685_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 NSD2 |
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 NSD2 |
- 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 NSD2 |
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 NSD2 |
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 NSD2 |
Correlated RBP and related information. |
Tissue type | RBP name | Exon skip ID | Correlation coeifficient | P-value |
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RelatedDrugs for NSD2 |
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 NSD2 |
Diseases associated with this gene. (DisGeNet 4.0) |
Gene | Disease ID | Disease name | # pubmeds | Source |