ExonSkipDB: functional annotation of exon skipping event in human

Gene summary for CSF3R

Gene summary

Gene information	Gene symbol	CSF3R
	Gene ID	1441
	Gene name	colony stimulating factor 3 receptor
	Synonyms	CD114\|GCSFR\|SCN7
	Cytomap	1p34.3
	Type of gene	protein-coding
	Description	granulocyte colony-stimulating factor receptorCD114 antigenG-CSF receptorG-CSF-Rcolony stimulating factor 3 receptor (granulocyte)
	Modification date	20180523
	UniProtAcc	Q99062
	Context	PubMed: CSF3R [Title/Abstract] AND exon [Title/Abstract] AND skip [Title/Abstract] - Title (PMID)

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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Exon skipping events across known transcript of Ensembl for CSF3R from UCSC genome browser

Skipped exons in TCGA and GTEx 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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Gene isoform structures and expression levels for CSF3R

Expression levels of gene isoforms across TCGA.

Expression levels of gene isoforms across GTEx.

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Exon skipping events with PSIs in TCGA for CSF3R

Information of exkip skipping event in TCGA.

Exon skip ID	chr	Exons involved in exon skipping	Skipped exon	ENSG	ENSTs
exon_skip_25085	1	36932221:36932428:36932830:36932912:36933158:36933252	36932830:36932912	ENSG00000119535.13	ENST00000373104.1,ENST00000484762.1,ENST00000331941.5,ENST00000373106.1,ENST00000487540.2,ENST00000418048.2,ENST00000361632.4,ENST00000464465.2
exon_skip_25087	1	36932830:36932912:36933158:36933252:36933422:36933563	36933158:36933252	ENSG00000119535.13	ENST00000373104.1,ENST00000480825.2,ENST00000484762.1,ENST00000373103.1,ENST00000440588.2,ENST00000331941.5,ENST00000373106.1,ENST00000487540.2,ENST00000418048.2,ENST00000361632.4,ENST00000464465.2
exon_skip_25090	1	36933675:36933822:36934756:36934858:36935252:36935441	36934756:36934858	ENSG00000119535.13	ENST00000373104.1,ENST00000338937.5,ENST00000373103.1,ENST00000440588.2,ENST00000331941.5,ENST00000373106.1,ENST00000487540.2,ENST00000418048.2,ENST00000361632.4
exon_skip_25091	1	36934756:36934858:36935252:36935441:36937033:36937075	36935252:36935441	ENSG00000119535.13	ENST00000373104.1,ENST00000464365.2,ENST00000480825.2,ENST00000338937.5,ENST00000373103.1,ENST00000440588.2,ENST00000331941.5,ENST00000373106.1,ENST00000487540.2,ENST00000418048.2,ENST00000361632.4
exon_skip_25094	1	36937033:36937247:36937666:36937740:36937838:36937988	36937666:36937740	ENSG00000119535.13	ENST00000373104.1,ENST00000464365.2,ENST00000338937.5,ENST00000373103.1,ENST00000440588.2,ENST00000331941.5,ENST00000373106.1,ENST00000487540.2,ENST00000418048.2,ENST00000361632.4
exon_skip_25095	1	36938117:36938287:36939035:36939223:36939364:36939431	36939035:36939223	ENSG00000119535.13	ENST00000373104.1,ENST00000464365.2,ENST00000338937.5,ENST00000373103.1,ENST00000440588.2,ENST00000331941.5,ENST00000373106.1,ENST00000418048.2,ENST00000361632.4
exon_skip_25105	1	36939364:36939488:36940977:36941274:36945033:36945097	36940977:36941274	ENSG00000119535.13	ENST00000373104.1,ENST00000338937.5,ENST00000373103.1,ENST00000440588.2,ENST00000331941.5,ENST00000373106.1,ENST00000418048.2,ENST00000361632.4
exon_skip_25113	1	36945033:36945117:36945587:36945681:36947078:36947120	36945587:36945681	ENSG00000119535.13	ENST00000533491.1

PSI values of skipped exons in TCGA.

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Exon skipping events with PSIs in GTEx for CSF3R

Information of exkip skipping event in GTEx

Exon skip ID	chr	Exons involved in exon skipping	Skipped exon	ENSG	ENSTs
exon_skip_25085	1	36932221:36932428:36932830:36932912:36933158:36933252	36932830:36932912	ENSG00000119535.13	ENST00000373106.1,ENST00000373104.1,ENST00000361632.4,ENST00000464465.2,ENST00000331941.5,ENST00000487540.2,ENST00000418048.2,ENST00000484762.1
exon_skip_25087	1	36932830:36932912:36933158:36933252:36933422:36933563	36933158:36933252	ENSG00000119535.13	ENST00000373106.1,ENST00000373104.1,ENST00000373103.1,ENST00000480825.2,ENST00000361632.4,ENST00000464465.2,ENST00000331941.5,ENST00000487540.2,ENST00000418048.2,ENST00000440588.2,ENST00000484762.1
exon_skip_25090	1	36933675:36933822:36934756:36934858:36935252:36935441	36934756:36934858	ENSG00000119535.13	ENST00000373106.1,ENST00000373104.1,ENST00000373103.1,ENST00000361632.4,ENST00000331941.5,ENST00000487540.2,ENST00000418048.2,ENST00000338937.5,ENST00000440588.2
exon_skip_25091	1	36934756:36934858:36935252:36935441:36937033:36937075	36935252:36935441	ENSG00000119535.13	ENST00000373106.1,ENST00000373104.1,ENST00000373103.1,ENST00000480825.2,ENST00000361632.4,ENST00000331941.5,ENST00000487540.2,ENST00000418048.2,ENST00000338937.5,ENST00000440588.2,ENST00000464365.2
exon_skip_25094	1	36937033:36937247:36937666:36937740:36937838:36937988	36937666:36937740	ENSG00000119535.13	ENST00000373106.1,ENST00000373104.1,ENST00000373103.1,ENST00000361632.4,ENST00000331941.5,ENST00000487540.2,ENST00000418048.2,ENST00000338937.5,ENST00000440588.2,ENST00000464365.2
exon_skip_25095	1	36938117:36938287:36939035:36939223:36939364:36939431	36939035:36939223	ENSG00000119535.13	ENST00000373106.1,ENST00000373104.1,ENST00000373103.1,ENST00000361632.4,ENST00000331941.5,ENST00000418048.2,ENST00000338937.5,ENST00000440588.2,ENST00000464365.2
exon_skip_25105	1	36939364:36939488:36940977:36941274:36945033:36945097	36940977:36941274	ENSG00000119535.13	ENST00000373106.1,ENST00000373104.1,ENST00000373103.1,ENST00000361632.4,ENST00000331941.5,ENST00000418048.2,ENST00000338937.5,ENST00000440588.2
exon_skip_25113	1	36945033:36945117:36945587:36945681:36947078:36947120	36945587:36945681	ENSG00000119535.13	ENST00000533491.1

PSI values of skipped exons in GTEx.

* Skipped exon sequences.

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Open reading frame (ORF) annotation in the exon skipping event for CSF3R

Open reading frame (ORF) of individual exon skipping events in TCGA based on the Ensembl gene structure combined from isoforms.

ENST	Start of skipped exon	End of skipped exon	ORF
ENST00000361632	36932830	36932912	Frame-shift
ENST00000373106	36932830	36932912	Frame-shift
ENST00000361632	36933158	36933252	Frame-shift
ENST00000373106	36933158	36933252	Frame-shift
ENST00000361632	36937666	36937740	Frame-shift
ENST00000373106	36937666	36937740	Frame-shift
ENST00000361632	36939035	36939223	Frame-shift
ENST00000373106	36939035	36939223	Frame-shift
ENST00000361632	36934756	36934858	In-frame
ENST00000373106	36934756	36934858	In-frame
ENST00000361632	36935252	36935441	In-frame
ENST00000373106	36935252	36935441	In-frame
ENST00000361632	36940977	36941274	In-frame
ENST00000373106	36940977	36941274	In-frame

Open reading frame (ORF) of individual exon skipping events in GTEx based on the Ensembl gene structure combined from isoforms.

ENST	Start of skipped exon	End of skipped exon	ORF
ENST00000361632	36932830	36932912	Frame-shift
ENST00000373106	36932830	36932912	Frame-shift
ENST00000361632	36933158	36933252	Frame-shift
ENST00000373106	36933158	36933252	Frame-shift
ENST00000361632	36937666	36937740	Frame-shift
ENST00000373106	36937666	36937740	Frame-shift
ENST00000361632	36939035	36939223	Frame-shift
ENST00000373106	36939035	36939223	Frame-shift
ENST00000361632	36934756	36934858	In-frame
ENST00000373106	36934756	36934858	In-frame
ENST00000361632	36935252	36935441	In-frame
ENST00000373106	36935252	36935441	In-frame
ENST00000361632	36940977	36941274	In-frame
ENST00000373106	36940977	36941274	In-frame

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Infer the effects of exon skipping event on protein functional features for CSF3R

Exon skipping at the protein sequence level and followed lost functional features.
* Click on the image to enlarge it in a new window.

Loci of skipped exons in TCGA 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
ENST00000361632	2903	836	36940977	36941274	127	423	21	120
ENST00000373106	3390	836	36940977	36941274	613	909	21	120
ENST00000361632	2903	836	36935252	36935441	1348	1536	428	491
ENST00000373106	3390	836	36935252	36935441	1834	2022	428	491
ENST00000361632	2903	836	36934756	36934858	1537	1638	491	525
ENST00000373106	3390	836	36934756	36934858	2023	2124	491	525

Loci of skipped exons in GTEx 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
ENST00000361632	2903	836	36940977	36941274	127	423	21	120
ENST00000373106	3390	836	36940977	36941274	613	909	21	120
ENST00000361632	2903	836	36935252	36935441	1348	1536	428	491
ENST00000373106	3390	836	36935252	36935441	1834	2022	428	491
ENST00000361632	2903	836	36934756	36934858	1537	1638	491	525
ENST00000373106	3390	836	36934756	36934858	2023	2124	491	525

Lost protein functional features of individual exon skipping events in TCGA.

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
Q99062	21	120	29	32	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2D9Q
Q99062	21	120	29	32	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2D9Q
Q99062	21	120	34	36	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2D9Q
Q99062	21	120	34	36	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2D9Q
Q99062	21	120	42	46	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2D9Q
Q99062	21	120	42	46	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2D9Q
Q99062	21	120	62	67	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2D9Q
Q99062	21	120	62	67	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2D9Q
Q99062	21	120	79	81	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2D9Q
Q99062	21	120	79	81	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2D9Q
Q99062	21	120	85	90	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2D9Q
Q99062	21	120	85	90	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2D9Q
Q99062	21	120	94	119	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2D9Q
Q99062	21	120	94	119	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2D9Q
Q99062	21	120	25	836	Chain	ID=PRO_0000010874;Note=Granulocyte colony-stimulating factor receptor
Q99062	21	120	25	836	Chain	ID=PRO_0000010874;Note=Granulocyte colony-stimulating factor receptor
Q99062	21	120	26	52	Disulfide bond	Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:16492764;Dbxref=PMID:16492764
Q99062	21	120	26	52	Disulfide bond	Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:16492764;Dbxref=PMID:16492764
Q99062	21	120	46	101	Disulfide bond	Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:16492764;Dbxref=PMID:16492764
Q99062	21	120	46	101	Disulfide bond	Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:16492764;Dbxref=PMID:16492764
Q99062	21	120	25	117	Domain	Note=Ig-like C2-type
Q99062	21	120	25	117	Domain	Note=Ig-like C2-type
Q99062	21	120	51	51	Glycosylation	Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q99062	21	120	51	51	Glycosylation	Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q99062	21	120	93	93	Glycosylation	Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q99062	21	120	93	93	Glycosylation	Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q99062	21	120	1	24	Signal peptide	.
Q99062	21	120	1	24	Signal peptide	.
Q99062	21	120	25	627	Topological domain	Note=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q99062	21	120	25	627	Topological domain	Note=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q99062	428	491	25	836	Chain	ID=PRO_0000010874;Note=Granulocyte colony-stimulating factor receptor
Q99062	428	491	25	836	Chain	ID=PRO_0000010874;Note=Granulocyte colony-stimulating factor receptor
Q99062	428	491	334	430	Domain	Note=Fibronectin type-III 3;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00316
Q99062	428	491	334	430	Domain	Note=Fibronectin type-III 3;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00316
Q99062	428	491	431	528	Domain	Note=Fibronectin type-III 4;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00316
Q99062	428	491	431	528	Domain	Note=Fibronectin type-III 4;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00316
Q99062	428	491	474	474	Glycosylation	Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q99062	428	491	474	474	Glycosylation	Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q99062	428	491	440	440	Natural variant	ID=VAR_014329;Note=R->Q;Ontology_term=ECO:0000269;evidence=ECO:0000269\|Ref.4;Dbxref=dbSNP:rs3918020
Q99062	428	491	440	440	Natural variant	ID=VAR_014329;Note=R->Q;Ontology_term=ECO:0000269;evidence=ECO:0000269\|Ref.4;Dbxref=dbSNP:rs3918020
Q99062	428	491	25	627	Topological domain	Note=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q99062	428	491	25	627	Topological domain	Note=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q99062	491	525	25	836	Chain	ID=PRO_0000010874;Note=Granulocyte colony-stimulating factor receptor
Q99062	491	525	25	836	Chain	ID=PRO_0000010874;Note=Granulocyte colony-stimulating factor receptor
Q99062	491	525	431	528	Domain	Note=Fibronectin type-III 4;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00316
Q99062	491	525	431	528	Domain	Note=Fibronectin type-III 4;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00316
Q99062	491	525	510	510	Natural variant	ID=VAR_014330;Note=D->H;Ontology_term=ECO:0000269;evidence=ECO:0000269\|Ref.4;Dbxref=dbSNP:rs3917991
Q99062	491	525	510	510	Natural variant	ID=VAR_014330;Note=D->H;Ontology_term=ECO:0000269;evidence=ECO:0000269\|Ref.4;Dbxref=dbSNP:rs3917991
Q99062	491	525	25	627	Topological domain	Note=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q99062	491	525	25	627	Topological domain	Note=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255

Lost protein functional features of individual exon skipping events in GTEx.

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
Q99062	21	120	29	32	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2D9Q
Q99062	21	120	29	32	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2D9Q
Q99062	21	120	34	36	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2D9Q
Q99062	21	120	34	36	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2D9Q
Q99062	21	120	42	46	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2D9Q
Q99062	21	120	42	46	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2D9Q
Q99062	21	120	62	67	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2D9Q
Q99062	21	120	62	67	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2D9Q
Q99062	21	120	79	81	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2D9Q
Q99062	21	120	79	81	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2D9Q
Q99062	21	120	85	90	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2D9Q
Q99062	21	120	85	90	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2D9Q
Q99062	21	120	94	119	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2D9Q
Q99062	21	120	94	119	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2D9Q
Q99062	21	120	25	836	Chain	ID=PRO_0000010874;Note=Granulocyte colony-stimulating factor receptor
Q99062	21	120	25	836	Chain	ID=PRO_0000010874;Note=Granulocyte colony-stimulating factor receptor
Q99062	21	120	26	52	Disulfide bond	Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:16492764;Dbxref=PMID:16492764
Q99062	21	120	26	52	Disulfide bond	Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:16492764;Dbxref=PMID:16492764
Q99062	21	120	46	101	Disulfide bond	Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:16492764;Dbxref=PMID:16492764
Q99062	21	120	46	101	Disulfide bond	Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:16492764;Dbxref=PMID:16492764
Q99062	21	120	25	117	Domain	Note=Ig-like C2-type
Q99062	21	120	25	117	Domain	Note=Ig-like C2-type
Q99062	21	120	51	51	Glycosylation	Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q99062	21	120	51	51	Glycosylation	Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q99062	21	120	93	93	Glycosylation	Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q99062	21	120	93	93	Glycosylation	Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q99062	21	120	1	24	Signal peptide	.
Q99062	21	120	1	24	Signal peptide	.
Q99062	21	120	25	627	Topological domain	Note=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q99062	21	120	25	627	Topological domain	Note=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q99062	428	491	25	836	Chain	ID=PRO_0000010874;Note=Granulocyte colony-stimulating factor receptor
Q99062	428	491	25	836	Chain	ID=PRO_0000010874;Note=Granulocyte colony-stimulating factor receptor
Q99062	428	491	334	430	Domain	Note=Fibronectin type-III 3;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00316
Q99062	428	491	334	430	Domain	Note=Fibronectin type-III 3;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00316
Q99062	428	491	431	528	Domain	Note=Fibronectin type-III 4;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00316
Q99062	428	491	431	528	Domain	Note=Fibronectin type-III 4;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00316
Q99062	428	491	474	474	Glycosylation	Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q99062	428	491	474	474	Glycosylation	Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q99062	428	491	440	440	Natural variant	ID=VAR_014329;Note=R->Q;Ontology_term=ECO:0000269;evidence=ECO:0000269\|Ref.4;Dbxref=dbSNP:rs3918020
Q99062	428	491	440	440	Natural variant	ID=VAR_014329;Note=R->Q;Ontology_term=ECO:0000269;evidence=ECO:0000269\|Ref.4;Dbxref=dbSNP:rs3918020
Q99062	428	491	25	627	Topological domain	Note=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q99062	428	491	25	627	Topological domain	Note=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q99062	491	525	25	836	Chain	ID=PRO_0000010874;Note=Granulocyte colony-stimulating factor receptor
Q99062	491	525	25	836	Chain	ID=PRO_0000010874;Note=Granulocyte colony-stimulating factor receptor
Q99062	491	525	431	528	Domain	Note=Fibronectin type-III 4;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00316
Q99062	491	525	431	528	Domain	Note=Fibronectin type-III 4;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00316
Q99062	491	525	510	510	Natural variant	ID=VAR_014330;Note=D->H;Ontology_term=ECO:0000269;evidence=ECO:0000269\|Ref.4;Dbxref=dbSNP:rs3917991
Q99062	491	525	510	510	Natural variant	ID=VAR_014330;Note=D->H;Ontology_term=ECO:0000269;evidence=ECO:0000269\|Ref.4;Dbxref=dbSNP:rs3917991
Q99062	491	525	25	627	Topological domain	Note=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q99062	491	525	25	627	Topological domain	Note=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255

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SNVs in the skipped exons for CSF3R

- Lollipop plot for presenting exon skipping associated SNVs.
* Click on the image to enlarge it in a new window.

- Differential PSIs between mutated versus non-mutated samples.

CSF3R_COAD_exon_skip_25091_psi_boxplot.png
boxplot

CSF3R_KIRC_exon_skip_25091_psi_boxplot.png
boxplot

CSF3R_LUAD_exon_skip_25091_psi_boxplot.png
boxplot

CSF3R_STAD_exon_skip_25091_psi_boxplot.png
boxplot

- Non-synonymous mutations located in the skipped exons in TCGA.

Cancer type	Sample	ESID	Skipped exon start	Skipped exon end	Mutation start	Mutation end	Mutation type	Reference seq	Mutation seq	AAchange
LIHC	TCGA-DD-A3A0-01	exon_skip_25085	36932831	36932912	36932899	36932899	Frame_Shift_Del	G	-	p.L658fs
ACC	TCGA-OR-A5J5-01	exon_skip_25091	36935253	36935441	36935323	36935323	Frame_Shift_Del	G	-	p.P468fs
ACC	TCGA-OR-A5J5-01	exon_skip_25091	36935253	36935441	36935323	36935323	Frame_Shift_Del	G	-	p.S469fs
COAD	TCGA-CK-5913-01	exon_skip_25091	36935253	36935441	36935323	36935323	Frame_Shift_Del	G	-	p.S469fs
COAD	TCGA-D5-6540-01	exon_skip_25091	36935253	36935441	36935323	36935323	Frame_Shift_Del	G	-	p.S469fs
COAD	TCGA-F4-6570-01	exon_skip_25091	36935253	36935441	36935323	36935323	Frame_Shift_Del	G	-	p.S469fs
LIHC	TCGA-DD-A39Y-01	exon_skip_25091	36935253	36935441	36935323	36935323	Frame_Shift_Del	G	-	p.P468fs
STAD	TCGA-B7-A5TJ-01	exon_skip_25091	36935253	36935441	36935323	36935323	Frame_Shift_Del	G	-	p.P468fs
STAD	TCGA-BR-6452-01	exon_skip_25091	36935253	36935441	36935323	36935323	Frame_Shift_Del	G	-	p.S469fs
STAD	TCGA-CG-5726-01	exon_skip_25091	36935253	36935441	36935323	36935323	Frame_Shift_Del	G	-	p.S469fs
STAD	TCGA-D7-A4YV-01	exon_skip_25091	36935253	36935441	36935323	36935323	Frame_Shift_Del	G	-	p.S469fs
STAD	TCGA-F1-6874-01	exon_skip_25091	36935253	36935441	36935323	36935323	Frame_Shift_Del	G	-	p.S469fs
UCEC	TCGA-D1-A163-01	exon_skip_25091	36935253	36935441	36935323	36935323	Frame_Shift_Del	G	-	p.P468fs
LIHC	TCGA-G3-A3CJ-01	exon_skip_25105	36940978	36941274	36941221	36941221	Frame_Shift_Del	C	-	p.D40fs
KIRC	TCGA-A3-3313-01	exon_skip_25091	36935253	36935441	36935322	36935323	Frame_Shift_Ins	-	G	p.R469fs
KIRC	TCGA-A3-3316-01	exon_skip_25091	36935253	36935441	36935322	36935323	Frame_Shift_Ins	-	G	p.R469fs
KIRC	TCGA-A3-3346-01	exon_skip_25091	36935253	36935441	36935322	36935323	Frame_Shift_Ins	-	G	p.R469fs
KIRC	TCGA-A3-3374-01	exon_skip_25091	36935253	36935441	36935322	36935323	Frame_Shift_Ins	-	G	p.R469fs
KIRC	TCGA-A3-3380-01	exon_skip_25091	36935253	36935441	36935322	36935323	Frame_Shift_Ins	-	G	p.R469fs
KIRC	TCGA-AK-3453-01	exon_skip_25091	36935253	36935441	36935322	36935323	Frame_Shift_Ins	-	G	p.R469fs
KIRC	TCGA-AS-3778-01	exon_skip_25091	36935253	36935441	36935322	36935323	Frame_Shift_Ins	-	G	p.R469fs
LUAD	TCGA-44-2656-01	exon_skip_25091	36935253	36935441	36935322	36935323	Frame_Shift_Ins	-	G	p.P468fs
LUAD	TCGA-44-2656-01	exon_skip_25091	36935253	36935441	36935322	36935323	Frame_Shift_Ins	-	G	p.R469fs
LUAD	TCGA-55-1594-01	exon_skip_25091	36935253	36935441	36935322	36935323	Frame_Shift_Ins	-	G	p.R469fs
LUAD	TCGA-64-1678-01	exon_skip_25091	36935253	36935441	36935322	36935323	Frame_Shift_Ins	-	G	p.P468fs
UCEC	TCGA-AP-A05D-01	exon_skip_25091	36935253	36935441	36935370	36935371	Frame_Shift_Ins	-	G	p.P452fs
BLCA	TCGA-G2-AA3B-01	exon_skip_25085	36932831	36932912	36932836	36932836	Nonsense_Mutation	C	T	p.W647*
SKCM	TCGA-GN-A26C-01	exon_skip_25085	36932831	36932912	36932837	36932837	Nonsense_Mutation	C	T	p.W647*
UCEC	TCGA-AX-A0J0-01	exon_skip_25105	36940978	36941274	36941116	36941116	Nonsense_Mutation	G	A	p.Q75*
LUAD	TCGA-78-7156-01	exon_skip_25090	36934757	36934858	36934859	36934859	Splice_Site	C	T	p.E492_splice

- Depth of coverage in the three exons composing exon skipping event

Depth of coverage in three exons	Mutation description
	Sample: TCGA-F1-6874-01
	Cancer type: STAD
	ESID: exon_skip_25091
	Skipped exon start: 36935253
	Skipped exon end: 36935441
	Mutation start: 36935323
	Mutation end: 36935323
	Mutation type: Frame_Shift_Del
	Reference seq: G
	Mutation seq: -
	AAchange: p.S469fs
exon_skip_115384_STAD_TCGA-F1-6874-01.png
exon_skip_13071_STAD_TCGA-F1-6874-01.png
exon_skip_18752_STAD_TCGA-F1-6874-01.png
exon_skip_25091_STAD_TCGA-F1-6874-01.png
exon_skip_289262_STAD_TCGA-F1-6874-01.png
exon_skip_30081_STAD_TCGA-F1-6874-01.png
exon_skip_35193_STAD_TCGA-F1-6874-01.png
exon_skip_376457_STAD_TCGA-F1-6874-01.png
exon_skip_377858_STAD_TCGA-F1-6874-01.png
exon_skip_457165_STAD_TCGA-F1-6874-01.png
exon_skip_457524_STAD_TCGA-F1-6874-01.png
exon_skip_483956_STAD_TCGA-F1-6874-01.png
exon_skip_69788_STAD_TCGA-F1-6874-01.png
exon_skip_77254_STAD_TCGA-F1-6874-01.png

- 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
KM12_LARGE_INTESTINE	36933159	36933252	36933165	36933165	Missense_Mutation	C	T	p.S651N
SW48_LARGE_INTESTINE	36933159	36933252	36933199	36933199	Missense_Mutation	T	C	p.T640A
COLO679_SKIN	36935253	36935441	36935276	36935276	Missense_Mutation	C	G	p.R484T
PCI6A_UPPER_AERODIGESTIVE_TRACT	36935253	36935441	36935375	36935375	Missense_Mutation	G	T	p.P451H
VMRCRCZ_KIDNEY	36935253	36935441	36935426	36935426	Missense_Mutation	C	A	p.R434I
L33_PANCREAS	36937667	36937740	36937684	36937684	Missense_Mutation	C	T	p.V352M
SR786_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	36939036	36939223	36939086	36939086	Missense_Mutation	G	A	p.A208V
HEC1_ENDOMETRIUM	36939036	36939223	36939111	36939111	Missense_Mutation	C	A	p.G200C
JHUEM7_ENDOMETRIUM	36940978	36941274	36941026	36941026	Missense_Mutation	A	T	p.W105R
NCIH650_LUNG	36940978	36941274	36941103	36941103	Missense_Mutation	G	A	p.S79F
SNU1_STOMACH	36940978	36941274	36941160	36941160	Missense_Mutation	T	C	p.Q60R
BCPAP_THYROID	36940978	36941274	36941185	36941185	Missense_Mutation	A	C	p.C52G
CMK_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	36940978	36941274	36941221	36941221	Missense_Mutation	C	T	p.D40N
CMK115_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	36940978	36941274	36941221	36941221	Missense_Mutation	C	T	p.D40N
CHSA8926_BONE	36940978	36941274	36941250	36941250	Missense_Mutation	C	G	p.S30T
NCIH64_LUNG	36932831	36932912	36932833	36932833	Nonsense_Mutation	C	A	p.E680*
RL952_ENDOMETRIUM	36940978	36941274	36941011	36941011	Nonsense_Mutation	G	A	p.Q110*
GSU_STOMACH	36937667	36937740	36937740	36937740	Splice_Site	G	A	p.A333V
WM1799_SKIN	36940978	36941274	36940979	36940979	Splice_Site	G	A	p.G120G

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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for CSF3R

sQTL information located at the skipped exons.

Exon skip ID

Chromosome

Three exons

Skippped exon

ENST

Cancer type

SNP id

Location

DNA change (ref/var)

P-value

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Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for CSF3R

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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for CSF3R

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RelatedDrugs for CSF3R

Approved drugs targeting this gene.
(DrugBank Version 5.1.0 2018-04-02)

Gene	UniProtAcc	DrugBank ID	Drug name	Drug activity	Drug type	Drug status
	Q99062	DB00019	Pegfilgrastim	Granulocyte colony-stimulating factor receptor	biotech	approved
	Q99062	DB00099	Filgrastim	Granulocyte colony-stimulating factor receptor	biotech	approved
	Q99062	DB13144	Lenograstim	Granulocyte colony-stimulating factor receptor	biotech	approved\|investigational
	Q99062	DB13200	Lipegfilgrastim	Granulocyte colony-stimulating factor receptor	biotech	approved\|investigational

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RelatedDiseases for CSF3R

Diseases associated with this gene.
(DisGeNet 4.0)

Gene	Disease ID	Disease name	# pubmeds	Source
CSF3R	C0023518	Leukocytosis	1	CTD_human
CSF3R	C0543669	Neutrophilia, Hereditary	1	CTD_human;ORPHANET;UNIPROT

	Gene summary
	Gene structures and expression levels
	Exon skipping events with PSIs in TCGA
	Exon skipping events with PSIs in GTEx
	Open reading frame (ORF) annotation in the exon skipping event
	Exon skipping events in the canonical protein sequence
	SNVs in the skipped exons with depth of coverage
	Splicing Quantitative Trait Loci (sQTLs) in the skipped exons
	Splicing Quantitative Trait Methylation (sQTM) in the skipped exon
	Related drugs with this gene
	Related diseases with this gene

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