ExonSkipDB: functional annotation of exon skipping event in human

Gene summary for ROBO3

Gene summary

Gene information	Gene symbol	ROBO3
	Gene ID	64221
	Gene name	roundabout guidance receptor 3
	Synonyms	HGPPS\|HGPPS1\|HGPS\|RBIG1\|RIG1
	Cytomap	11q24.2
	Type of gene	protein-coding
	Description	roundabout homolog 3retinoblastoma inhibiting gene 1roundabout, axon guidance receptor, homolog 3roundabout-like protein 3
	Modification date	20180519
	UniProtAcc	Q96MS0
	Context	PubMed: ROBO3 [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 ROBO3 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 ROBO3

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 ROBO3

Information of exkip skipping event in TCGA.

Exon skip ID	chr	Exons involved in exon skipping	Skipped exon	ENSG	ENSTs
exon_skip_66208	11	124743205:124743287:124743592:124743758:124743965:124744132	124743592:124743758	ENSG00000154134.10	ENST00000397801.1,ENST00000538940.1
exon_skip_66209	11	124746170:124746356:124747056:124747080:124747162:124747205	124747056:124747080	ENSG00000154134.10	ENST00000397801.1,ENST00000527196.1,ENST00000538940.1
exon_skip_66213	11	124746770:124746828:124747056:124747080:124747162:124747205	124747056:124747080	ENSG00000154134.10	ENST00000526551.1,ENST00000534598.1,ENST00000525448.1
exon_skip_66214	11	124746770:124746828:124747056:124747080:124747414:124747554	124747056:124747080	ENSG00000154134.10	ENST00000525482.1
exon_skip_66215	11	124746770:124746828:124747056:124747205:124747414:124747554	124747056:124747205	ENSG00000154134.10	ENST00000531119.1
exon_skip_66226	11	124746770:124746828:124747162:124747205:124747414:124747554	124747162:124747205	ENSG00000154134.10	ENST00000530647.1,ENST00000531075.1
exon_skip_66237	11	124746770:124746828:124747180:124747205:124747414:124747554	124747180:124747205	ENSG00000154134.10	ENST00000528820.1
exon_skip_66246	11	124746770:124746828:124747414:124747554:124748479:124748609	124747414:124747554	ENSG00000154134.10	ENST00000528144.1
exon_skip_66251	11	124746770:124746828:124747414:124748027:124748193:124748332	124747414:124748027	ENSG00000154134.10	ENST00000529658.1
exon_skip_66259	11	124747056:124747080:124747162:124747205:124747414:124747554	124747162:124747205	ENSG00000154134.10	ENST00000531545.1,ENST00000397801.1,ENST00000528068.1,ENST00000526551.1,ENST00000534598.1,ENST00000527196.1,ENST00000525448.1,ENST00000538940.1
exon_skip_66260	11	124747414:124747554:124747832:124748027:124748193:124748332	124747832:124748027	ENSG00000154134.10	ENST00000525482.1,ENST00000397801.1,ENST00000527196.1,ENST00000538940.1
exon_skip_66262	11	124747414:124747554:124747832:124748027:124748479:124748609	124747832:124748027	ENSG00000154134.10	ENST00000543966.1
exon_skip_66268	11	124747414:124747554:124748193:124748332:124748479:124748609	124748193:124748332	ENSG00000154134.10	ENST00000526551.1
exon_skip_66272	11	124747414:124747554:124748479:124748692:124749085:124749203	124748479:124748692	ENSG00000154134.10	ENST00000528144.1,ENST00000528820.1
exon_skip_66273	11	124747414:124747648:124747832:124748027:124748193:124748332	124747832:124748027	ENSG00000154134.10	ENST00000525448.1
exon_skip_66283	11	124747832:124748027:124748193:124748332:124748479:124748609	124748193:124748332	ENSG00000154134.10	ENST00000525482.1,ENST00000397801.1,ENST00000527196.1,ENST00000525448.1,ENST00000538940.1,ENST00000529658.1,ENST00000527245.1
exon_skip_66285	11	124747832:124748027:124748479:124748692:124749085:124749203	124748479:124748692	ENSG00000154134.10	ENST00000543966.1
exon_skip_66286	11	124748479:124748692:124749085:124749237:124749360:124749471	124749085:124749237	ENSG00000154134.10	ENST00000525482.1,ENST00000397801.1,ENST00000524971.1,ENST00000527196.1,ENST00000525448.1,ENST00000538940.1,ENST00000529658.1,ENST00000525304.1,ENST00000528820.1,ENST00000543966.1
exon_skip_66288	11	124749360:124749471:124749682:124749844:124750313:124750411	124749682:124749844	ENSG00000154134.10	ENST00000525482.1,ENST00000397801.1,ENST00000524971.1,ENST00000527196.1,ENST00000525448.1,ENST00000538940.1,ENST00000529658.1,ENST00000527245.1,ENST00000525304.1,ENST00000543966.1

PSI values of skipped exons in TCGA.

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Exon skipping events with PSIs in GTEx for ROBO3

Information of exkip skipping event in GTEx

Exon skip ID	chr	Exons involved in exon skipping	Skipped exon	ENSG	ENSTs
exon_skip_66208	11	124743205:124743287:124743592:124743758:124743965:124744132	124743592:124743758	ENSG00000154134.10	ENST00000397801.1,ENST00000538940.1
exon_skip_66209	11	124746170:124746356:124747056:124747080:124747162:124747205	124747056:124747080	ENSG00000154134.10	ENST00000397801.1,ENST00000538940.1,ENST00000527196.1
exon_skip_66213	11	124746770:124746828:124747056:124747080:124747162:124747205	124747056:124747080	ENSG00000154134.10	ENST00000525448.1,ENST00000526551.1,ENST00000534598.1
exon_skip_66214	11	124746770:124746828:124747056:124747080:124747414:124747554	124747056:124747080	ENSG00000154134.10	ENST00000525482.1
exon_skip_66215	11	124746770:124746828:124747056:124747205:124747414:124747554	124747056:124747205	ENSG00000154134.10	ENST00000531119.1
exon_skip_66226	11	124746770:124746828:124747162:124747205:124747414:124747554	124747162:124747205	ENSG00000154134.10	ENST00000530647.1,ENST00000531075.1
exon_skip_66237	11	124746770:124746828:124747180:124747205:124747414:124747554	124747180:124747205	ENSG00000154134.10	ENST00000528820.1
exon_skip_66246	11	124746770:124746828:124747414:124747554:124748479:124748609	124747414:124747554	ENSG00000154134.10	ENST00000528144.1
exon_skip_66251	11	124746770:124746828:124747414:124748027:124748193:124748332	124747414:124748027	ENSG00000154134.10	ENST00000529658.1
exon_skip_66259	11	124747056:124747080:124747162:124747205:124747414:124747554	124747162:124747205	ENSG00000154134.10	ENST00000397801.1,ENST00000538940.1,ENST00000527196.1,ENST00000531545.1,ENST00000525448.1,ENST00000528068.1,ENST00000526551.1,ENST00000534598.1
exon_skip_66260	11	124747414:124747554:124747832:124748027:124748193:124748332	124747832:124748027	ENSG00000154134.10	ENST00000397801.1,ENST00000538940.1,ENST00000527196.1,ENST00000525482.1
exon_skip_66262	11	124747414:124747554:124747832:124748027:124748479:124748609	124747832:124748027	ENSG00000154134.10	ENST00000543966.1
exon_skip_66268	11	124747414:124747554:124748193:124748332:124748479:124748609	124748193:124748332	ENSG00000154134.10	ENST00000526551.1
exon_skip_66272	11	124747414:124747554:124748479:124748692:124749085:124749203	124748479:124748692	ENSG00000154134.10	ENST00000528144.1,ENST00000528820.1
exon_skip_66273	11	124747414:124747648:124747832:124748027:124748193:124748332	124747832:124748027	ENSG00000154134.10	ENST00000525448.1
exon_skip_66283	11	124747832:124748027:124748193:124748332:124748479:124748609	124748193:124748332	ENSG00000154134.10	ENST00000397801.1,ENST00000538940.1,ENST00000527196.1,ENST00000527245.1,ENST00000529658.1,ENST00000525448.1,ENST00000525482.1
exon_skip_66285	11	124747832:124748027:124748479:124748692:124749085:124749203	124748479:124748692	ENSG00000154134.10	ENST00000543966.1
exon_skip_66286	11	124748479:124748692:124749085:124749237:124749360:124749471	124749085:124749237	ENSG00000154134.10	ENST00000397801.1,ENST00000538940.1,ENST00000527196.1,ENST00000529658.1,ENST00000525448.1,ENST00000528820.1,ENST00000525482.1,ENST00000543966.1,ENST00000525304.1,ENST00000524971.1
exon_skip_66288	11	124749360:124749471:124749682:124749844:124750313:124750411	124749682:124749844	ENSG00000154134.10	ENST00000397801.1,ENST00000538940.1,ENST00000527196.1,ENST00000527245.1,ENST00000529658.1,ENST00000525448.1,ENST00000525482.1,ENST00000543966.1,ENST00000525304.1,ENST00000524971.1

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 ROBO3

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
ENST00000397801	124743592	124743758	Frame-shift
ENST00000397801	124747162	124747205	Frame-shift
ENST00000397801	124748193	124748332	Frame-shift
ENST00000397801	124749085	124749237	Frame-shift
ENST00000397801	124747056	124747080	In-frame
ENST00000397801	124747832	124748027	In-frame
ENST00000397801	124749682	124749844	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
ENST00000397801	124743592	124743758	Frame-shift
ENST00000397801	124747162	124747205	Frame-shift
ENST00000397801	124748193	124748332	Frame-shift
ENST00000397801	124749085	124749237	Frame-shift
ENST00000397801	124747056	124747080	In-frame
ENST00000397801	124747832	124748027	In-frame
ENST00000397801	124749682	124749844	In-frame

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Infer the effects of exon skipping event on protein functional features for ROBO3

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
ENST00000397801	4586	1386	124747832	124748027	3179	3373	995	1060
ENST00000397801	4586	1386	124749682	124749844	3989	4150	1265	1319

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
ENST00000397801	4586	1386	124747832	124748027	3179	3373	995	1060
ENST00000397801	4586	1386	124749682	124749844	3989	4150	1265	1319

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
Q96MS0	995	1060	1025	1034	Alternative sequence	ID=VSP_010650;Note=In isoform 2. AGEELQTFHG->LTTPLLILTT;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:14702039;Dbxref=PMID:14702039
Q96MS0	995	1060	1035	1386	Alternative sequence	ID=VSP_010651;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:14702039;Dbxref=PMID:14702039
Q96MS0	995	1060	21	1386	Chain	ID=PRO_0000031038;Note=Roundabout homolog 3
Q96MS0	995	1060	913	1386	Topological domain	Note=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q96MS0	1265	1319	1035	1386	Alternative sequence	ID=VSP_010651;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:14702039;Dbxref=PMID:14702039
Q96MS0	1265	1319	21	1386	Chain	ID=PRO_0000031038;Note=Roundabout homolog 3
Q96MS0	1265	1319	913	1386	Topological domain	Note=Cytoplasmic;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
Q96MS0	995	1060	1025	1034	Alternative sequence	ID=VSP_010650;Note=In isoform 2. AGEELQTFHG->LTTPLLILTT;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:14702039;Dbxref=PMID:14702039
Q96MS0	995	1060	1035	1386	Alternative sequence	ID=VSP_010651;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:14702039;Dbxref=PMID:14702039
Q96MS0	995	1060	21	1386	Chain	ID=PRO_0000031038;Note=Roundabout homolog 3
Q96MS0	995	1060	913	1386	Topological domain	Note=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q96MS0	1265	1319	1035	1386	Alternative sequence	ID=VSP_010651;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:14702039;Dbxref=PMID:14702039
Q96MS0	1265	1319	21	1386	Chain	ID=PRO_0000031038;Note=Roundabout homolog 3
Q96MS0	1265	1319	913	1386	Topological domain	Note=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255

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SNVs in the skipped exons for ROBO3

- 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.

- 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-A1EG-01	exon_skip_66246	124747415	124747554	124747438	124747438	Frame_Shift_Del	C	-	p.A957fs
LIHC	TCGA-DD-A1EG-01	exon_skip_66251	124747415	124748027	124747438	124747438	Frame_Shift_Del	C	-	p.A957fs
LIHC	TCGA-DD-A39Y-01	exon_skip_66246	124747415	124747554	124747438	124747438	Frame_Shift_Del	C	-	p.A957fs
LIHC	TCGA-DD-A39Y-01	exon_skip_66251	124747415	124748027	124747438	124747438	Frame_Shift_Del	C	-	p.A957fs
LIHC	TCGA-DD-A1EG-01	exon_skip_66246	124747415	124747554	124747484	124747484	Frame_Shift_Del	C	-	p.S972fs
LIHC	TCGA-DD-A1EG-01	exon_skip_66251	124747415	124748027	124747484	124747484	Frame_Shift_Del	C	-	p.S972fs
BLCA	TCGA-K4-A6FZ-01	exon_skip_66285 exon_skip_66272	124748480	124748692	124748563	124748563	Frame_Shift_Del	C	-	p.T1135fs
STAD	TCGA-HU-A4H8-01	exon_skip_66251	124747415	124748027	124747920	124747921	Frame_Shift_Ins	-	G	p.A1025fs
STAD	TCGA-HU-A4H8-01	exon_skip_66273 exon_skip_66260 exon_skip_66262	124747833	124748027	124747920	124747921	Frame_Shift_Ins	-	G	p.A1025fs
LUSC	TCGA-22-4613-01	exon_skip_66251	124747415	124748027	124748011	124748011	Nonsense_Mutation	G	A	p.W1055*
LUSC	TCGA-22-4613-01	exon_skip_66273 exon_skip_66260 exon_skip_66262	124747833	124748027	124748011	124748011	Nonsense_Mutation	G	A	p.W1055*

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

Depth of coverage in three exons	Mutation description
	Sample: TCGA-HU-A4H8-01
	Cancer type: STAD
	ESID: exon_skip_66262
	Skipped exon start: 124747833
	Skipped exon end: 124748027
	Mutation start: 124747920
	Mutation end: 124747921
	Mutation type: Frame_Shift_Ins
	Reference seq: -
	Mutation seq: G
	AAchange: p.A1025fs
	Sample: TCGA-HU-A4H8-01
	Cancer type: STAD
	ESID: exon_skip_66251
	Skipped exon start: 124747415
	Skipped exon end: 124748027
	Mutation start: 124747920
	Mutation end: 124747921
	Mutation type: Frame_Shift_Ins
	Reference seq: -
	Mutation seq: G
	AAchange: p.A1025fs
exon_skip_300502_STAD_TCGA-HU-A4H8-01.png
exon_skip_343108_STAD_TCGA-HU-A4H8-01.png
exon_skip_450280_STAD_TCGA-HU-A4H8-01.png
exon_skip_452918_STAD_TCGA-HU-A4H8-01.png
exon_skip_472769_STAD_TCGA-HU-A4H8-01.png
exon_skip_472770_STAD_TCGA-HU-A4H8-01.png
exon_skip_496317_STAD_TCGA-HU-A4H8-01.png
exon_skip_66251_STAD_TCGA-HU-A4H8-01.png
exon_skip_66260_STAD_TCGA-HU-A4H8-01.png
exon_skip_66262_STAD_TCGA-HU-A4H8-01.png
exon_skip_98460_STAD_TCGA-HU-A4H8-01.png
	Sample: TCGA-HU-A4H8-01
	Cancer type: STAD
	ESID: exon_skip_66262
	Skipped exon start: 124747833
	Skipped exon end: 124748027
	Mutation start: 124747920
	Mutation end: 124747921
	Mutation type: Frame_Shift_Ins
	Reference seq: -
	Mutation seq: G
	AAchange: p.A1025fs
	Sample: TCGA-HU-A4H8-01
	Cancer type: STAD
	ESID: exon_skip_66251
	Skipped exon start: 124747415
	Skipped exon end: 124748027
	Mutation start: 124747920
	Mutation end: 124747921
	Mutation type: Frame_Shift_Ins
	Reference seq: -
	Mutation seq: G
	AAchange: p.A1025fs
exon_skip_300502_STAD_TCGA-HU-A4H8-01.png
exon_skip_343108_STAD_TCGA-HU-A4H8-01.png
exon_skip_450280_STAD_TCGA-HU-A4H8-01.png
exon_skip_452918_STAD_TCGA-HU-A4H8-01.png
exon_skip_472769_STAD_TCGA-HU-A4H8-01.png
exon_skip_472770_STAD_TCGA-HU-A4H8-01.png
exon_skip_496317_STAD_TCGA-HU-A4H8-01.png
exon_skip_66251_STAD_TCGA-HU-A4H8-01.png
exon_skip_66260_STAD_TCGA-HU-A4H8-01.png
exon_skip_66262_STAD_TCGA-HU-A4H8-01.png
exon_skip_98460_STAD_TCGA-HU-A4H8-01.png
	Sample: TCGA-HU-A4H8-01
	Cancer type: STAD
	ESID: exon_skip_66262
	Skipped exon start: 124747833
	Skipped exon end: 124748027
	Mutation start: 124747920
	Mutation end: 124747921
	Mutation type: Frame_Shift_Ins
	Reference seq: -
	Mutation seq: G
	AAchange: p.A1025fs
	Sample: TCGA-HU-A4H8-01
	Cancer type: STAD
	ESID: exon_skip_66251
	Skipped exon start: 124747415
	Skipped exon end: 124748027
	Mutation start: 124747920
	Mutation end: 124747921
	Mutation type: Frame_Shift_Ins
	Reference seq: -
	Mutation seq: G
	AAchange: p.A1025fs
exon_skip_300502_STAD_TCGA-HU-A4H8-01.png
exon_skip_343108_STAD_TCGA-HU-A4H8-01.png
exon_skip_450280_STAD_TCGA-HU-A4H8-01.png
exon_skip_452918_STAD_TCGA-HU-A4H8-01.png
exon_skip_472769_STAD_TCGA-HU-A4H8-01.png
exon_skip_472770_STAD_TCGA-HU-A4H8-01.png
exon_skip_496317_STAD_TCGA-HU-A4H8-01.png
exon_skip_66251_STAD_TCGA-HU-A4H8-01.png
exon_skip_66260_STAD_TCGA-HU-A4H8-01.png
exon_skip_66262_STAD_TCGA-HU-A4H8-01.png
exon_skip_98460_STAD_TCGA-HU-A4H8-01.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
NCIH650_LUNG	124743593	124743758	124743640	124743640	Frame_Shift_Del	C	-	p.P556fs
JHUEM2_ENDOMETRIUM	124747833	124748027	124747921	124747921	Frame_Shift_Del	G	-	p.A1025fs
JHUEM2_ENDOMETRIUM	124747415	124748027	124747921	124747921	Frame_Shift_Del	G	-	p.A1025fs
PCM6_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	124743593	124743758	124743725	124743725	Missense_Mutation	C	T	p.A584V
SW48_LARGE_INTESTINE	124743593	124743758	124743754	124743754	Missense_Mutation	T	G	p.F594V
HCT15_LARGE_INTESTINE	124747057	124747080	124747068	124747068	Missense_Mutation	T	C	p.Y931H
HCT15_LARGE_INTESTINE	124747057	124747205	124747068	124747068	Missense_Mutation	T	C	p.Y931H
MCC13_SKIN	124747057	124747080	124747074	124747074	Missense_Mutation	C	T	p.P933S
MCC13_SKIN	124747057	124747205	124747074	124747074	Missense_Mutation	C	T	p.P933S
RKO_LARGE_INTESTINE	124747415	124747554	124747437	124747437	Missense_Mutation	G	A	p.A957T
RKO_LARGE_INTESTINE	124747415	124748027	124747437	124747437	Missense_Mutation	G	A	p.A957T
MOLT4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	124747415	124747554	124747437	124747437	Missense_Mutation	G	A	p.A957T
MOLT4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	124747415	124748027	124747437	124747437	Missense_Mutation	G	A	p.A957T
SNU81_LARGE_INTESTINE	124747415	124747554	124747480	124747480	Missense_Mutation	G	A	p.R971Q
SNU81_LARGE_INTESTINE	124747415	124748027	124747480	124747480	Missense_Mutation	G	A	p.R971Q
MCC13_SKIN	124747415	124747554	124747485	124747485	Missense_Mutation	C	T	p.P973S
MCC13_SKIN	124747415	124748027	124747485	124747485	Missense_Mutation	C	T	p.P973S
KYSE150_OESOPHAGUS	124747415	124747554	124747489	124747489	Missense_Mutation	C	T	p.S974L
KYSE150_OESOPHAGUS	124747415	124748027	124747489	124747489	Missense_Mutation	C	T	p.S974L
RH1_SOFT_TISSUE	124747833	124748027	124747838	124747838	Missense_Mutation	G	A	p.G998R
RH1_SOFT_TISSUE	124747415	124748027	124747838	124747838	Missense_Mutation	G	A	p.G998R
EW8_BONE	124747833	124748027	124747838	124747838	Missense_Mutation	G	A	p.G998R
EW8_BONE	124747415	124748027	124747838	124747838	Missense_Mutation	G	A	p.G998R
EN_ENDOMETRIUM	124747833	124748027	124747847	124747847	Missense_Mutation	C	A	p.L1001M
EN_ENDOMETRIUM	124747415	124748027	124747847	124747847	Missense_Mutation	C	A	p.L1001M
RERFLCSQ1_LUNG	124747833	124748027	124747880	124747880	Missense_Mutation	G	A	p.A1012T
RERFLCSQ1_LUNG	124747415	124748027	124747880	124747880	Missense_Mutation	G	A	p.A1012T
RERFLCSQ1_LUNG	124747833	124748027	124747943	124747943	Missense_Mutation	C	T	p.H1033Y
RERFLCSQ1_LUNG	124747415	124748027	124747943	124747943	Missense_Mutation	C	T	p.H1033Y
SW48_LARGE_INTESTINE	124747833	124748027	124747950	124747950	Missense_Mutation	G	A	p.G1035D
SW48_LARGE_INTESTINE	124747415	124748027	124747950	124747950	Missense_Mutation	G	A	p.G1035D
MJ_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	124747833	124748027	124747989	124747989	Missense_Mutation	G	T	p.S1048I
MJ_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	124747415	124748027	124747989	124747989	Missense_Mutation	G	T	p.S1048I
EFE184_ENDOMETRIUM	124747833	124748027	124748019	124748019	Missense_Mutation	G	C	p.G1058A
EFE184_ENDOMETRIUM	124747415	124748027	124748019	124748019	Missense_Mutation	G	C	p.G1058A
NCIH1435_LUNG	124748194	124748332	124748201	124748201	Missense_Mutation	G	T	p.K1063N
NTERA2CLD1_TESTIS	124748194	124748332	124748201	124748201	Missense_Mutation	G	C	p.K1063N
HEP3B217_LIVER	124748194	124748332	124748205	124748205	Missense_Mutation	G	A	p.G1065S
U118MG_CENTRAL_NERVOUS_SYSTEM	124748194	124748332	124748241	124748241	Missense_Mutation	C	A	p.P1077T
HS695T_SKIN	124748194	124748332	124748268	124748268	Missense_Mutation	C	T	p.P1086S
MHHPREB1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	124748194	124748332	124748293	124748293	Missense_Mutation	T	C	p.L1094P
SIHA_CERVIX	124748194	124748332	124748307	124748307	Missense_Mutation	G	A	p.G1099R
HSC1_SKIN	124748480	124748692	124748508	124748508	Missense_Mutation	A	G	p.M1117V
AM38_CENTRAL_NERVOUS_SYSTEM	124748480	124748692	124748508	124748508	Missense_Mutation	A	G	p.M1117V
NCIH513_PLEURA	124748480	124748692	124748649	124748649	Missense_Mutation	C	A	p.P1164T
CALU3_LUNG	124748480	124748692	124748658	124748658	Missense_Mutation	C	A	p.P1167T
SCH_STOMACH	124749086	124749237	124749141	124749141	Missense_Mutation	A	G	p.I1197V
MCAS_OVARY	124749086	124749237	124749144	124749144	Missense_Mutation	C	T	p.R1198C
HSC1_SKIN	124749086	124749237	124749202	124749202	Missense_Mutation	C	A	p.P1217H
NCIH322_LUNG	124749086	124749237	124749202	124749202	Missense_Mutation	C	A	p.P1217H
NCIH524_LUNG	124749086	124749237	124749216	124749216	Missense_Mutation	A	G	p.S1222G
NCIH1819_LUNG	124749683	124749844	124749740	124749740	Missense_Mutation	T	C	p.L1285P
JJN3_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	124749683	124749844	124749759	124749759	Missense_Mutation	G	A	p.M1291I
SW684_SOFT_TISSUE	124743593	124743758	124743655	124743655	Nonsense_Mutation	C	T	p.Q561*
LC2AD_LUNG	124747057	124747080	124747057	124747057	Splice_Site	C	T	p.A927V
LC2AD_LUNG	124747057	124747205	124747057	124747057	Splice_Site	C	T	p.A927V

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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for ROBO3

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 ROBO3

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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for ROBO3

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RelatedDrugs for ROBO3

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

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RelatedDiseases for ROBO3

Diseases associated with this gene.
(DisGeNet 4.0)

Gene	Disease ID	Disease name	# pubmeds	Source
ROBO3	C0004352	Autistic Disorder	1	CTD_human
ROBO3	C1846496	Gaze Palsy, Familial Horizontal, with Progressive Scoliosis	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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