ExonSkipAD: functional annotation of exon skipping event in human

Gene summary for TREM2

Gene summary

Gene information	Gene symbol	TREM2
	Gene ID	54209
	Gene name	triggering receptor expressed on myeloid cells 2
	Synonyms	PLOSL2\|TREM-2\|Trem2a\|Trem2b\|Trem2c
	Cytomap	6p21.1
	Type of gene	protein-coding
	Description	triggering receptor expressed on myeloid cells 2triggering receptor expressed on monocytes 2triggering receptor expressed on myeloid cells 2a
	Modification date	20200313
	UniProtAcc	E3WHI5, Q5TCX1, Q9NZC2,
	Context	- 28802038(TREM2 Maintains Microglial Metabolic Fitness in Alzheimer's Disease)

Gene ontology of each this gene with evidence of Inferred from Direct Assay (IDA) from Entrez

Gene	GO ID	GO term	PubMed ID
TREM2	GO:0002588	positive regulation of antigen processing and presentation of peptide antigen via MHC class II	11602640
TREM2	GO:0050731	positive regulation of peptidyl-tyrosine phosphorylation	11602640
TREM2	GO:0050850	positive regulation of calcium-mediated signaling	11602640
TREM2	GO:0070374	positive regulation of ERK1 and ERK2 cascade	11602640
TREM2	GO:0097028	dendritic cell differentiation	11602640
TREM2	GO:1903078	positive regulation of protein localization to plasma membrane	11602640
TREM2	GO:1903082	positive regulation of C-C chemokine receptor CCR7 signaling pathway	11602640
TREM2	GO:2000350	positive regulation of CD40 signaling pathway	11602640

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Gene structures and expression levels for TREM2

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.

ENSG00000095970

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

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 TREM2

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_202726	chr6	41158760:41158780:41158873:41159066:41159792:41159882	41158873:41159066
exon_skip_207870	chr6	41158507:41158780:41158873:41159066:41159792:41159882	41158873:41159066
exon_skip_253106	chr6	41158873:41159066:41159792:41159882:41161263:41161613	41159792:41159882
exon_skip_295412	chr6	41158507:41158780:41158873:41159106:41159792:41159882	41158873:41159106
exon_skip_4090	chr6	41158760:41158780:41158873:41159106:41159792:41159882	41158873:41159106
exon_skip_82244	chr6	41159792:41159882:41161263:41161613:41163043:41163103	41161263:41161613
exon_skip_93739	chr6	41158507:41158780:41159792:41159882:41161263:41161613	41159792:41159882

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 TREM2

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
ENST00000373113	41158873	41159066	Frame-shift
ENST00000373113	41159792	41159882	Frame-shift
ENST00000373113	41161263	41161613	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
ENST00000373113	41158873	41159066	Frame-shift
ENST00000373113	41161263	41161613	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
ENST00000373113	41158873	41159066	Frame-shift
ENST00000373113	41159792	41159882	Frame-shift
ENST00000373113	41161263	41161613	In-frame

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Infer the effects of exon skipping event on protein functional features for TREM2

p-ENSG00000095970_img4.png
boxplot

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
ENST00000373113	1061	230	41161263	41161613	135	484	13	130

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
ENST00000373113	1061	230	41161263	41161613	135	484	13	130

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
ENST00000373113	1061	230	41161263	41161613	135	484	13	130

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
Q9NZC2	13	130	21	27	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5UD8
Q9NZC2	13	130	32	37	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5UD8
Q9NZC2	13	130	48	53	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5UD8
Q9NZC2	13	130	60	66	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5UD8
Q9NZC2	13	130	77	79	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5UD7
Q9NZC2	13	130	83	87	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5UD8
Q9NZC2	13	130	92	97	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5UD8
Q9NZC2	13	130	106	114	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5UD8
Q9NZC2	13	130	117	129	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5UD8
Q9NZC2	13	130	19	230	Chain	ID=PRO_0000014987;Note=Triggering receptor expressed on myeloid cells 2
Q9NZC2	13	130	36	110	Disulfide bond	Ontology_term=ECO:0000244,ECO:0000269;evidence=ECO:0000244\|PDB:5ELI,ECO:0000269\|PubMed:27995897;Dbxref=PMID:27995897
Q9NZC2	13	130	51	60	Disulfide bond	Ontology_term=ECO:0000244,ECO:0000269;evidence=ECO:0000244\|PDB:5ELI,ECO:0000269\|PubMed:27995897;Dbxref=PMID:27995897
Q9NZC2	13	130	29	112	Domain	Note=Ig-like V-type
Q9NZC2	13	130	20	20	Glycosylation	Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q9NZC2	13	130	79	79	Glycosylation	Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000244,ECO:0000269;evidence=ECO:0000244\|PDB:5ELI,ECO:0000269\|PubMed:27995897;Dbxref=PMID:27995897
Q9NZC2	13	130	69	74	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5UD8
Q9NZC2	13	130	102	104	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5UD8
Q9NZC2	13	130	38	38	Mutagenesis	Note=Increases protein aggregation%3B decreases cell membrane localization%3B protein is secreted. Y->C;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:27995897;Dbxref=PMID:27995897
Q9NZC2	13	130	47	47	Mutagenesis	Note=Decreases binding to NA2 and THP-1 cells%3B induces small conformational change%3B no change in thermal stability%3B no effect on cell membrane localization. R->H;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:27995897;Dbxref=PMID:27995897
Q9NZC2	13	130	62	62	Mutagenesis	Note=Does not change protein structure%3B no change in thermal stability%3B no effect on cell membrane localization. R->H;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:27995897;Dbxref=PMID:27995897
Q9NZC2	13	130	66	66	Mutagenesis	Note=Increases protein aggregation%3B decreases cell membrane localization%3B protein is secreted. T->M;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:27995897;Dbxref=PMID:27995897
Q9NZC2	13	130	68	68	Mutagenesis	Note=No effect on cell membrane localization. N->K;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:27995897;Dbxref=PMID:27995897
Q9NZC2	13	130	76	76	Mutagenesis	Note=Decreases binding to THP-1 cells. R->D;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:27995897;Dbxref=PMID:27995897
Q9NZC2	13	130	77	77	Mutagenesis	Note=Decreases binding to THP-1 cells. R->D;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:27995897;Dbxref=PMID:27995897
Q9NZC2	13	130	87	87	Mutagenesis	Note=No effect on cell membrane localization. D->N;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:27995897;Dbxref=PMID:27995897
Q9NZC2	13	130	126	126	Mutagenesis	Note=Increases protein aggregation%3B decreases cell membrane localization%3B protein is secreted. V->G;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:27995897;Dbxref=PMID:27995897
Q9NZC2	13	130	96	96	Natural variant	ID=VAR_061329;Note=Does not change protein structure%3B changes protein stability%3B increases binding to THP-1 cells. T->K;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:27995897;Dbxref=dbSNP:rs2234253,PMID:27995897
Q9NZC2	13	130	96	96	Natural variant	ID=VAR_061330;Note=T->R;Dbxref=dbSNP:rs2234253
Q9NZC2	13	130	1	18	Signal peptide	Ontology_term=ECO:0000255;evidence=ECO:0000255
Q9NZC2	13	130	19	174	Topological domain	Note=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q9NZC2	13	130	40	45	Turn	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5UD8
Q9NZC2	13	130	55	57	Turn	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5UD8
Q9NZC2	13	130	88	91	Turn	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5UD8

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
Q9NZC2	13	130	21	27	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5UD8
Q9NZC2	13	130	32	37	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5UD8
Q9NZC2	13	130	48	53	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5UD8
Q9NZC2	13	130	60	66	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5UD8
Q9NZC2	13	130	77	79	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5UD7
Q9NZC2	13	130	83	87	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5UD8
Q9NZC2	13	130	92	97	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5UD8
Q9NZC2	13	130	106	114	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5UD8
Q9NZC2	13	130	117	129	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5UD8
Q9NZC2	13	130	19	230	Chain	ID=PRO_0000014987;Note=Triggering receptor expressed on myeloid cells 2
Q9NZC2	13	130	36	110	Disulfide bond	Ontology_term=ECO:0000244,ECO:0000269;evidence=ECO:0000244\|PDB:5ELI,ECO:0000269\|PubMed:27995897;Dbxref=PMID:27995897
Q9NZC2	13	130	51	60	Disulfide bond	Ontology_term=ECO:0000244,ECO:0000269;evidence=ECO:0000244\|PDB:5ELI,ECO:0000269\|PubMed:27995897;Dbxref=PMID:27995897
Q9NZC2	13	130	29	112	Domain	Note=Ig-like V-type
Q9NZC2	13	130	20	20	Glycosylation	Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q9NZC2	13	130	79	79	Glycosylation	Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000244,ECO:0000269;evidence=ECO:0000244\|PDB:5ELI,ECO:0000269\|PubMed:27995897;Dbxref=PMID:27995897
Q9NZC2	13	130	69	74	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5UD8
Q9NZC2	13	130	102	104	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5UD8
Q9NZC2	13	130	38	38	Mutagenesis	Note=Increases protein aggregation%3B decreases cell membrane localization%3B protein is secreted. Y->C;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:27995897;Dbxref=PMID:27995897
Q9NZC2	13	130	47	47	Mutagenesis	Note=Decreases binding to NA2 and THP-1 cells%3B induces small conformational change%3B no change in thermal stability%3B no effect on cell membrane localization. R->H;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:27995897;Dbxref=PMID:27995897
Q9NZC2	13	130	62	62	Mutagenesis	Note=Does not change protein structure%3B no change in thermal stability%3B no effect on cell membrane localization. R->H;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:27995897;Dbxref=PMID:27995897
Q9NZC2	13	130	66	66	Mutagenesis	Note=Increases protein aggregation%3B decreases cell membrane localization%3B protein is secreted. T->M;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:27995897;Dbxref=PMID:27995897
Q9NZC2	13	130	68	68	Mutagenesis	Note=No effect on cell membrane localization. N->K;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:27995897;Dbxref=PMID:27995897
Q9NZC2	13	130	76	76	Mutagenesis	Note=Decreases binding to THP-1 cells. R->D;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:27995897;Dbxref=PMID:27995897
Q9NZC2	13	130	77	77	Mutagenesis	Note=Decreases binding to THP-1 cells. R->D;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:27995897;Dbxref=PMID:27995897
Q9NZC2	13	130	87	87	Mutagenesis	Note=No effect on cell membrane localization. D->N;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:27995897;Dbxref=PMID:27995897
Q9NZC2	13	130	126	126	Mutagenesis	Note=Increases protein aggregation%3B decreases cell membrane localization%3B protein is secreted. V->G;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:27995897;Dbxref=PMID:27995897
Q9NZC2	13	130	96	96	Natural variant	ID=VAR_061329;Note=Does not change protein structure%3B changes protein stability%3B increases binding to THP-1 cells. T->K;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:27995897;Dbxref=dbSNP:rs2234253,PMID:27995897
Q9NZC2	13	130	96	96	Natural variant	ID=VAR_061330;Note=T->R;Dbxref=dbSNP:rs2234253
Q9NZC2	13	130	1	18	Signal peptide	Ontology_term=ECO:0000255;evidence=ECO:0000255
Q9NZC2	13	130	19	174	Topological domain	Note=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q9NZC2	13	130	40	45	Turn	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5UD8
Q9NZC2	13	130	55	57	Turn	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5UD8
Q9NZC2	13	130	88	91	Turn	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5UD8

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
Q9NZC2	13	130	21	27	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5UD8
Q9NZC2	13	130	32	37	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5UD8
Q9NZC2	13	130	48	53	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5UD8
Q9NZC2	13	130	60	66	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5UD8
Q9NZC2	13	130	77	79	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5UD7
Q9NZC2	13	130	83	87	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5UD8
Q9NZC2	13	130	92	97	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5UD8
Q9NZC2	13	130	106	114	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5UD8
Q9NZC2	13	130	117	129	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5UD8
Q9NZC2	13	130	19	230	Chain	ID=PRO_0000014987;Note=Triggering receptor expressed on myeloid cells 2
Q9NZC2	13	130	36	110	Disulfide bond	Ontology_term=ECO:0000244,ECO:0000269;evidence=ECO:0000244\|PDB:5ELI,ECO:0000269\|PubMed:27995897;Dbxref=PMID:27995897
Q9NZC2	13	130	51	60	Disulfide bond	Ontology_term=ECO:0000244,ECO:0000269;evidence=ECO:0000244\|PDB:5ELI,ECO:0000269\|PubMed:27995897;Dbxref=PMID:27995897
Q9NZC2	13	130	29	112	Domain	Note=Ig-like V-type
Q9NZC2	13	130	20	20	Glycosylation	Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q9NZC2	13	130	79	79	Glycosylation	Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000244,ECO:0000269;evidence=ECO:0000244\|PDB:5ELI,ECO:0000269\|PubMed:27995897;Dbxref=PMID:27995897
Q9NZC2	13	130	69	74	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5UD8
Q9NZC2	13	130	102	104	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5UD8
Q9NZC2	13	130	38	38	Mutagenesis	Note=Increases protein aggregation%3B decreases cell membrane localization%3B protein is secreted. Y->C;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:27995897;Dbxref=PMID:27995897
Q9NZC2	13	130	47	47	Mutagenesis	Note=Decreases binding to NA2 and THP-1 cells%3B induces small conformational change%3B no change in thermal stability%3B no effect on cell membrane localization. R->H;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:27995897;Dbxref=PMID:27995897
Q9NZC2	13	130	62	62	Mutagenesis	Note=Does not change protein structure%3B no change in thermal stability%3B no effect on cell membrane localization. R->H;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:27995897;Dbxref=PMID:27995897
Q9NZC2	13	130	66	66	Mutagenesis	Note=Increases protein aggregation%3B decreases cell membrane localization%3B protein is secreted. T->M;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:27995897;Dbxref=PMID:27995897
Q9NZC2	13	130	68	68	Mutagenesis	Note=No effect on cell membrane localization. N->K;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:27995897;Dbxref=PMID:27995897
Q9NZC2	13	130	76	76	Mutagenesis	Note=Decreases binding to THP-1 cells. R->D;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:27995897;Dbxref=PMID:27995897
Q9NZC2	13	130	77	77	Mutagenesis	Note=Decreases binding to THP-1 cells. R->D;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:27995897;Dbxref=PMID:27995897
Q9NZC2	13	130	87	87	Mutagenesis	Note=No effect on cell membrane localization. D->N;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:27995897;Dbxref=PMID:27995897
Q9NZC2	13	130	126	126	Mutagenesis	Note=Increases protein aggregation%3B decreases cell membrane localization%3B protein is secreted. V->G;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:27995897;Dbxref=PMID:27995897
Q9NZC2	13	130	96	96	Natural variant	ID=VAR_061329;Note=Does not change protein structure%3B changes protein stability%3B increases binding to THP-1 cells. T->K;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:27995897;Dbxref=dbSNP:rs2234253,PMID:27995897
Q9NZC2	13	130	96	96	Natural variant	ID=VAR_061330;Note=T->R;Dbxref=dbSNP:rs2234253
Q9NZC2	13	130	1	18	Signal peptide	Ontology_term=ECO:0000255;evidence=ECO:0000255
Q9NZC2	13	130	19	174	Topological domain	Note=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q9NZC2	13	130	40	45	Turn	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5UD8
Q9NZC2	13	130	55	57	Turn	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5UD8
Q9NZC2	13	130	88	91	Turn	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5UD8

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3'-UTR located exon skipping events that lost miRNA binding sites in TREM2

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 TREM2

- 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 TREM2

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 TREM2

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 TREM2

Correlated RBP and related information.

Tissue type	RBP name	Exon skip ID	Correlation coeifficient	P-value
IFG	SRSF2	exon_skip_82244	6.260999e-01	2.395303e-03
IFG	PCBP1	exon_skip_82244	5.833344e-01	5.507279e-03
IFG	ILF2	exon_skip_82244	6.143849e-01	3.044170e-03
IFG	HNRNPK	exon_skip_82244	7.341379e-01	1.514631e-04
IFG	SNRPA	exon_skip_82244	5.024440e-01	2.027418e-02
IFG	HNRNPA2B1	exon_skip_82244	4.738053e-01	3.002652e-02
IFG	HNRNPL	exon_skip_82244	5.512543e-01	9.591458e-03
IFG	EWSR1	exon_skip_82244	5.323802e-01	1.297516e-02
IFG	SRSF9	exon_skip_82244	5.781261e-01	6.049122e-03
IFG	SRSF5	exon_skip_82244	4.588362e-01	3.642254e-02
IFG	HNRNPH2	exon_skip_82244	4.764087e-01	2.901087e-02
IFG	ESRP1	exon_skip_82244	5.666776e-01	7.396000e-03
IFG	HNRNPF	exon_skip_82244	5.453968e-01	1.055361e-02

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RelatedDrugs for TREM2

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 TREM2

Diseases associated with this gene.
(DisGeNet 4.0)

Gene

Disease ID

Disease name

# pubmeds

Source

	Gene summary
	Gene structures and expression levels
	Exon skipping events with PSIs in RPSMAP, MSBB, and Mayo
	Open reading frame (ORF) annotation in the exon skipping event
	Exon skipping events in the canonical protein sequence
	3'-UTR located exon skipping events lost miRNA binding sites
	SNVs in the skipped exons with depth of coverage
	AD stage-associated exon skipping events
	Splicing Quantitative Trait Loci (sQTLs) in the skipped exons
	Correlation with RNA binding proteins (RBPs)
	Related drugs with this gene
	Related diseases with this gene

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Gene summary for TREM2

Gene structures and expression levels for TREM2

Exon skipping events with PSIs in ROSMAP, MSBB, and Mayo for TREM2

Open reading frame (ORF) annotation in the exon skipping event for TREM2

Infer the effects of exon skipping event on protein functional features for TREM2

3'-UTR located exon skipping events that lost miRNA binding sites in TREM2

SNVs in the skipped exons for TREM2

AD stage-associated exon skippint events for TREM2

Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for TREM2

Correlation with RNA binding proteins (RBPs) for TREM2

RelatedDrugs for TREM2

RelatedDiseases for TREM2