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| Open reading frame (ORF) annotation in the exon skipping event |
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| 3'-UTR located exon skipping events lost miRNA binding sites |
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| Splicing Quantitative Trait Loci (sQTLs) in the skipped exons |
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Gene summary for NSD1 |
 Gene summary |
| Gene information | Gene symbol | NSD1 | Gene ID | 64324 |
| Gene name | nuclear receptor binding SET domain protein 1 | |
| Synonyms | ARA267|KMT3B|SOTOS|SOTOS1|STO | |
| Cytomap | 5q35.3 | |
| Type of gene | protein-coding | |
| Description | histone-lysine N-methyltransferase, H3 lysine-36 and H4 lysine-20 specificH3-K36-HMTaseH4-K20-HMTaseNR-binding SET domain-containing proteinandrogen receptor coactivator 267 kDa proteinandrogen receptor-associated coregulator 267androgen receptor-as | |
| Modification date | 20200321 | |
| UniProtAcc | A0A1D5RMR9, A0A1W2PS55, A0A3G1LEI2, | |
| Context |
| Gene ontology of each this gene with evidence of Inferred from Direct Assay (IDA) from Entrez |
| Gene | GO ID | GO term | PubMed ID |
| NSD1 | GO:0045893 | positive regulation of transcription, DNA-templated | 11509567 |
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Gene structures and expression levels for NSD1 |
| 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. |
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ENSG00000165671
| 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. |
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| Tissue type | DEG direction | ENST | Transcript info. | Base mean exp. | log2FC(AD/control) | P-value | Adjc. p-value |
| CB | DOWN | ENST00000607062.5 | ASNSD1-204:protein_coding:ASNSD1 | 5.294637e+01 | -1.360816e+00 | 1.218449e-08 | 3.558288e-07 |
| CB | UP | ENST00000638627.2 | NSD1-216:nonsense_mediated_decay:NSD1 | 4.390844e+00 | 1.203573e+00 | 6.123837e-06 | 6.955255e-05 |
| CB | UP | ENST00000420250.1 | ASNSD1-202:protein_coding:ASNSD1 | 8.409527e+01 | 1.801891e+00 | 1.412141e-05 | 1.410169e-04 |
| 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 NSD1 |
| Landscape of individual exon skipping event across AD tissues and controls (PSI heatmap). |
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| All exon skipping events in AD cohorts. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon |
| exon_skip_108210 | chr5 | 177246678:177246796:177248181:177248324:177251730:177251853 | 177248181:177248324 |
| exon_skip_132472 | chr5 | 177135941:177136030:177169394:177169428:177191884:177192019 | 177169394:177169428 |
| exon_skip_175357 | chr5 | 177135941:177136030:177191884:177192019:177204120:177204236 | 177191884:177192019 |
| exon_skip_179369 | chr5 | 177235821:177235945:177238237:177238507:177239756:177239865 | 177238237:177238507 |
| exon_skip_188817 | chr5 | 177280565:177280834:177282465:177282581:177283787:177283928 | 177282465:177282581 |
| exon_skip_19554 | chr5 | 177239756:177239865:177244195:177244270:177246678:177246796 | 177244195:177244270 |
| exon_skip_201789 | chr5 | 177282465:177282581:177283787:177283928:177288819:177288925 | 177283787:177283928 |
| exon_skip_21217 | chr5 | 177283787:177283928:177288819:177288925:177291954:177292127 | 177288819:177288925 |
| exon_skip_23783 | chr5 | 177135941:177136030:177169394:177169644:177191884:177192019 | 177169394:177169644 |
| exon_skip_250730 | chr5 | 177212111:177212195:177229765:177229886:177235821:177235945 | 177229765:177229886 |
| exon_skip_27216 | chr5 | 177204120:177204292:177209636:177212195:177235821:177235945 | 177209636:177212195 |
| exon_skip_274039 | chr5 | 177269602:177269807:177273672:177273784:177280565:177280583 | 177273672:177273784 |
| exon_skip_84569 | chr5 | 177135167:177135200:177135941:177136030:177191884:177192019 | 177135941:177136030 |
| 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 NSD1 |
| 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 |
| ENST00000439151 | 177191884 | 177192019 | Frame-shift |
| ENST00000439151 | 177209636 | 177212195 | Frame-shift |
| ENST00000439151 | 177238237 | 177238507 | Frame-shift |
| ENST00000439151 | 177283787 | 177283928 | Frame-shift |
| ENST00000439151 | 177288819 | 177288925 | Frame-shift |
| ENST00000439151 | 177248181 | 177248324 | 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 |
| ENST00000439151 | 177191884 | 177192019 | Frame-shift |
| ENST00000439151 | 177209636 | 177212195 | Frame-shift |
| ENST00000439151 | 177238237 | 177238507 | Frame-shift |
| ENST00000439151 | 177288819 | 177288925 | Frame-shift |
| ENST00000439151 | 177248181 | 177248324 | 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 |
| ENST00000439151 | 177191884 | 177192019 | Frame-shift |
| ENST00000439151 | 177209636 | 177212195 | Frame-shift |
| ENST00000439151 | 177238237 | 177238507 | Frame-shift |
| ENST00000439151 | 177244195 | 177244270 | Frame-shift |
| ENST00000439151 | 177273672 | 177273784 | Frame-shift |
| ENST00000439151 | 177288819 | 177288925 | Frame-shift |
| ENST00000439151 | 177248181 | 177248324 | In-frame |
| ENST00000439151 | 177282465 | 177282581 | In-frame |
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Infer the effects of exon skipping event on protein functional features for NSD1 |
p-ENSG00000165671_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 |
| ENST00000439151 | 12909 | 2696 | 177248181 | 177248324 | 4544 | 4686 | 1499 | 1547 |
| 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 |
| ENST00000439151 | 12909 | 2696 | 177248181 | 177248324 | 4544 | 4686 | 1499 | 1547 |
| 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 |
| ENST00000439151 | 12909 | 2696 | 177248181 | 177248324 | 4544 | 4686 | 1499 | 1547 |
| ENST00000439151 | 12909 | 2696 | 177282465 | 177282581 | 5939 | 6054 | 1964 | 2003 |
| 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 |
| Q96L73 | 1499 | 1547 | 1 | 2696 | Chain | ID=PRO_0000186070;Note=Histone-lysine N-methyltransferase%2C H3 lysine-36 and H4 lysine-20 specific |
| Q96L73 | 1499 | 1547 | 1510 | 1510 | Modified residue | Note=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:O88491 |
| Q96L73 | 1499 | 1547 | 1543 | 1589 | Zinc finger | Note=PHD-type 1;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00146 |
| 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 |
| Q96L73 | 1499 | 1547 | 1 | 2696 | Chain | ID=PRO_0000186070;Note=Histone-lysine N-methyltransferase%2C H3 lysine-36 and H4 lysine-20 specific |
| Q96L73 | 1499 | 1547 | 1510 | 1510 | Modified residue | Note=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:O88491 |
| Q96L73 | 1499 | 1547 | 1543 | 1589 | Zinc finger | Note=PHD-type 1;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00146 |
| 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 |
| Q96L73 | 1499 | 1547 | 1 | 2696 | Chain | ID=PRO_0000186070;Note=Histone-lysine N-methyltransferase%2C H3 lysine-36 and H4 lysine-20 specific |
| Q96L73 | 1499 | 1547 | 1510 | 1510 | Modified residue | Note=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:O88491 |
| Q96L73 | 1499 | 1547 | 1543 | 1589 | Zinc finger | Note=PHD-type 1;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00146 |
| Q96L73 | 1964 | 2003 | 1967 | 1970 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3OOI |
| Q96L73 | 1964 | 2003 | 1973 | 1976 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3OOI |
| Q96L73 | 1964 | 2003 | 1998 | 2002 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3OOI |
| Q96L73 | 1964 | 2003 | 1 | 2696 | Chain | ID=PRO_0000186070;Note=Histone-lysine N-methyltransferase%2C H3 lysine-36 and H4 lysine-20 specific |
| Q96L73 | 1964 | 2003 | 1942 | 2059 | Domain | Note=SET;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00190 |
| Q96L73 | 1964 | 2003 | 1978 | 1990 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3OOI |
| Q96L73 | 1964 | 2003 | 1984 | 1984 | Natural variant | ID=VAR_015787;Note=In SOTOS1%3B loss of enzyme activity. R->Q;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:12807965,ECO:0000269|PubMed:21196496;Dbxref=dbSNP:rs587784169,PMID:12807965,PMID:21196496 |
| Q96L73 | 1964 | 2003 | 1997 | 1997 | Natural variant | ID=VAR_015788;Note=In SOTOS1. Y->C;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:12807965;Dbxref=dbSNP:rs797045825,PMID:12807965 |
| Q96L73 | 1964 | 2003 | 1994 | 1997 | Region | Note=S-adenosyl-L-methionine binding |
| Q96L73 | 1964 | 2003 | 1982 | 1982 | Sequence conflict | Note=R->M;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| Q96L73 | 1964 | 2003 | 1986 | 1991 | Sequence conflict | Note=RYAQEH->KHAHEN;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| Q96L73 | 1964 | 2003 | 1995 | 1995 | Sequence conflict | Note=N->H;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| Q96L73 | 1964 | 2003 | 2001 | 2001 | Sequence conflict | Note=L->I;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
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3'-UTR located exon skipping events that lost miRNA binding sites in NSD1 |
| 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 NSD1 |
| - 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 NSD1 |
| 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 NSD1 |
| 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 NSD1 |
| Correlated RBP and related information. |
| Tissue type | RBP name | Exon skip ID | Correlation coeifficient | P-value |
| HCC | PCBP4 | exon_skip_179369 | -4.024637e-01 | 8.101152e-12 |
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RelatedDrugs for NSD1 |
| 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 NSD1 |
| 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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