ExonSkipDB: functional annotation of exon skipping event in human

Gene summary for GOLGA2

Gene summary

Gene information	Gene symbol	GOLGA2
	Gene ID	2801
	Gene name	golgin A2
	Synonyms	GM130
	Cytomap	9q34.11
	Type of gene	protein-coding
	Description	golgin subfamily A member 2130 kDa cis-Golgi matrix proteinGM130 autoantigenGolgi matrix protein GM130SY11 proteingolgi autoantigen, golgin subfamily a, 2golgin-95
	Modification date	20180523
	UniProtAcc	Q08379
	Context	PubMed: GOLGA2 [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
GOLGA2	GO:0007020	microtubule nucleation	26165940
GOLGA2	GO:0007098	centrosome cycle	19109421
GOLGA2	GO:0032091	negative regulation of protein binding	18167358
GOLGA2	GO:0090307	mitotic spindle assembly	26165940

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Exon skipping events across known transcript of Ensembl for GOLGA2 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 GOLGA2

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 GOLGA2

Information of exkip skipping event in TCGA.

Exon skip ID	chr	Exons involved in exon skipping	Skipped exon	ENSG	ENSTs
exon_skip_507413	9	131020068:131020171:131020258:131020477:131020733:131020849	131020258:131020477	ENSG00000167110.12	ENST00000609374.1,ENST00000421699.2
exon_skip_507415	9	131021285:131021361:131021445:131021670:131022354:131022468	131021445:131021670	ENSG00000167110.12	ENST00000609374.1,ENST00000462089.1,ENST00000421699.2
exon_skip_507416	9	131022404:131022468:131022743:131023081:131023450:131023538	131022743:131023081	ENSG00000167110.12	ENST00000609374.1,ENST00000421699.2
exon_skip_507420	9	131023732:131023840:131023946:131024036:131024841:131024983	131023946:131024036	ENSG00000167110.12	ENST00000450617.1,ENST00000609374.1,ENST00000490257.1,ENST00000421699.2
exon_skip_507421	9	131023963:131024036:131024841:131025371:131027863:131027970	131024841:131025371	ENSG00000167110.12	ENST00000490257.1
exon_skip_507424	9	131027863:131027970:131028066:131028160:131028248:131028299	131028066:131028160	ENSG00000167110.12	ENST00000450617.1,ENST00000458730.1,ENST00000609374.1,ENST00000490257.1,ENST00000421699.2
exon_skip_507432	9	131028248:131028299:131028565:131028604:131029472:131029538	131028565:131028604	ENSG00000167110.12	ENST00000450617.1,ENST00000609374.1,ENST00000421699.2
exon_skip_507433	9	131028248:131028299:131028565:131028604:131029736:131029796	131028565:131028604	ENSG00000167110.12	ENST00000458730.1
exon_skip_507438	9	131028565:131028604:131029472:131029553:131029736:131029796	131029472:131029553	ENSG00000167110.12	ENST00000450617.1,ENST00000609374.1,ENST00000421699.2
exon_skip_507439	9	131030212:131030276:131030395:131030439:131030698:131030803	131030395:131030439	ENSG00000167110.12	ENST00000450617.1,ENST00000458730.1,ENST00000609374.1,ENST00000421699.2
exon_skip_507440	9	131030395:131030439:131030698:131030803:131035063:131035144	131030698:131030803	ENSG00000167110.12	ENST00000450617.1,ENST00000458730.1
exon_skip_507441	9	131030395:131030439:131030698:131030803:131036128:131036132	131030698:131030803	ENSG00000167110.12	ENST00000609374.1,ENST00000421699.2
exon_skip_507444	9	131030698:131030803:131035063:131035144:131036128:131036132	131035063:131035144	ENSG00000167110.12	ENST00000450617.1,ENST00000458730.1

PSI values of skipped exons in TCGA.

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Exon skipping events with PSIs in GTEx for GOLGA2

Information of exkip skipping event in GTEx

Exon skip ID	chr	Exons involved in exon skipping	Skipped exon	ENSG	ENSTs
exon_skip_507413	9	131020068:131020171:131020258:131020477:131020733:131020849	131020258:131020477	ENSG00000167110.12	ENST00000421699.2,ENST00000609374.1
exon_skip_507415	9	131021285:131021361:131021445:131021670:131022354:131022468	131021445:131021670	ENSG00000167110.12	ENST00000421699.2,ENST00000609374.1,ENST00000462089.1
exon_skip_507416	9	131022404:131022468:131022743:131023081:131023450:131023538	131022743:131023081	ENSG00000167110.12	ENST00000421699.2,ENST00000609374.1
exon_skip_507420	9	131023732:131023840:131023946:131024036:131024841:131024983	131023946:131024036	ENSG00000167110.12	ENST00000421699.2,ENST00000609374.1,ENST00000450617.1,ENST00000490257.1
exon_skip_507421	9	131023963:131024036:131024841:131025371:131027863:131027970	131024841:131025371	ENSG00000167110.12	ENST00000490257.1
exon_skip_507424	9	131027863:131027970:131028066:131028160:131028248:131028299	131028066:131028160	ENSG00000167110.12	ENST00000421699.2,ENST00000609374.1,ENST00000450617.1,ENST00000490257.1,ENST00000458730.1
exon_skip_507432	9	131028248:131028299:131028565:131028604:131029472:131029538	131028565:131028604	ENSG00000167110.12	ENST00000421699.2,ENST00000609374.1,ENST00000450617.1
exon_skip_507433	9	131028248:131028299:131028565:131028604:131029736:131029796	131028565:131028604	ENSG00000167110.12	ENST00000458730.1
exon_skip_507438	9	131028565:131028604:131029472:131029553:131029736:131029796	131029472:131029553	ENSG00000167110.12	ENST00000421699.2,ENST00000609374.1,ENST00000450617.1
exon_skip_507439	9	131030212:131030276:131030395:131030439:131030698:131030803	131030395:131030439	ENSG00000167110.12	ENST00000421699.2,ENST00000609374.1,ENST00000450617.1,ENST00000458730.1
exon_skip_507440	9	131030395:131030439:131030698:131030803:131035063:131035144	131030698:131030803	ENSG00000167110.12	ENST00000450617.1,ENST00000458730.1
exon_skip_507441	9	131030395:131030439:131030698:131030803:131036128:131036132	131030698:131030803	ENSG00000167110.12	ENST00000421699.2,ENST00000609374.1
exon_skip_507444	9	131030698:131030803:131035063:131035144:131036128:131036132	131035063:131035144	ENSG00000167110.12	ENST00000450617.1,ENST00000458730.1

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 GOLGA2

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
ENST00000421699	131022743	131023081	Frame-shift
ENST00000421699	131028066	131028160	Frame-shift
ENST00000421699	131030395	131030439	Frame-shift
ENST00000421699	131020258	131020477	In-frame
ENST00000421699	131021445	131021670	In-frame
ENST00000421699	131023946	131024036	In-frame
ENST00000421699	131028565	131028604	In-frame
ENST00000421699	131029472	131029553	In-frame
ENST00000421699	131030698	131030803	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
ENST00000421699	131022743	131023081	Frame-shift
ENST00000421699	131028066	131028160	Frame-shift
ENST00000421699	131030395	131030439	Frame-shift
ENST00000421699	131020258	131020477	In-frame
ENST00000421699	131021445	131021670	In-frame
ENST00000421699	131023946	131024036	In-frame
ENST00000421699	131028565	131028604	In-frame
ENST00000421699	131029472	131029553	In-frame
ENST00000421699	131030698	131030803	In-frame

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Infer the effects of exon skipping event on protein functional features for GOLGA2

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
ENST00000421699	4277	1002	131030698	131030803	221	325	69	104
ENST00000421699	4277	1002	131029472	131029553	494	574	160	187
ENST00000421699	4277	1002	131028565	131028604	575	613	187	200
ENST00000421699	4277	1002	131023946	131024036	1067	1156	351	381
ENST00000421699	4277	1002	131021445	131021670	1805	2029	597	672
ENST00000421699	4277	1002	131020258	131020477	2222	2440	736	809

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
ENST00000421699	4277	1002	131030698	131030803	221	325	69	104
ENST00000421699	4277	1002	131029472	131029553	494	574	160	187
ENST00000421699	4277	1002	131028565	131028604	575	613	187	200
ENST00000421699	4277	1002	131023946	131024036	1067	1156	351	381
ENST00000421699	4277	1002	131021445	131021670	1805	2029	597	672
ENST00000421699	4277	1002	131020258	131020477	2222	2440	736	809

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
Q08379	69	104	1	382	Alternative sequence	ID=VSP_007727;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:8315394;Dbxref=PMID:8315394
Q08379	69	104	1	1002	Chain	ID=PRO_0000190054;Note=Golgin subfamily A member 2
Q08379	69	104	16	892	Coiled coil	Ontology_term=ECO:0000255;evidence=ECO:0000255
Q08379	69	104	1	84	Region	Note=Interaction with p115/USO1;Ontology_term=ECO:0000250;evidence=ECO:0000250\|UniProtKB:Q62839
Q08379	160	187	1	382	Alternative sequence	ID=VSP_007727;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:8315394;Dbxref=PMID:8315394
Q08379	160	187	1	1002	Chain	ID=PRO_0000190054;Note=Golgin subfamily A member 2
Q08379	160	187	16	892	Coiled coil	Ontology_term=ECO:0000255;evidence=ECO:0000255
Q08379	187	200	1	382	Alternative sequence	ID=VSP_007727;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:8315394;Dbxref=PMID:8315394
Q08379	187	200	1	1002	Chain	ID=PRO_0000190054;Note=Golgin subfamily A member 2
Q08379	187	200	16	892	Coiled coil	Ontology_term=ECO:0000255;evidence=ECO:0000255
Q08379	351	381	1	382	Alternative sequence	ID=VSP_007727;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:8315394;Dbxref=PMID:8315394
Q08379	351	381	1	1002	Chain	ID=PRO_0000190054;Note=Golgin subfamily A member 2
Q08379	351	381	16	892	Coiled coil	Ontology_term=ECO:0000255;evidence=ECO:0000255
Q08379	597	672	1	1002	Chain	ID=PRO_0000190054;Note=Golgin subfamily A member 2
Q08379	597	672	16	892	Coiled coil	Ontology_term=ECO:0000255;evidence=ECO:0000255
Q08379	736	809	1	1002	Chain	ID=PRO_0000190054;Note=Golgin subfamily A member 2
Q08379	736	809	16	892	Coiled coil	Ontology_term=ECO:0000255;evidence=ECO:0000255
Q08379	736	809	762	762	Sequence conflict	Note=R->S;Ontology_term=ECO:0000305;evidence=ECO:0000305

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
Q08379	69	104	1	382	Alternative sequence	ID=VSP_007727;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:8315394;Dbxref=PMID:8315394
Q08379	69	104	1	1002	Chain	ID=PRO_0000190054;Note=Golgin subfamily A member 2
Q08379	69	104	16	892	Coiled coil	Ontology_term=ECO:0000255;evidence=ECO:0000255
Q08379	69	104	1	84	Region	Note=Interaction with p115/USO1;Ontology_term=ECO:0000250;evidence=ECO:0000250\|UniProtKB:Q62839
Q08379	160	187	1	382	Alternative sequence	ID=VSP_007727;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:8315394;Dbxref=PMID:8315394
Q08379	160	187	1	1002	Chain	ID=PRO_0000190054;Note=Golgin subfamily A member 2
Q08379	160	187	16	892	Coiled coil	Ontology_term=ECO:0000255;evidence=ECO:0000255
Q08379	187	200	1	382	Alternative sequence	ID=VSP_007727;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:8315394;Dbxref=PMID:8315394
Q08379	187	200	1	1002	Chain	ID=PRO_0000190054;Note=Golgin subfamily A member 2
Q08379	187	200	16	892	Coiled coil	Ontology_term=ECO:0000255;evidence=ECO:0000255
Q08379	351	381	1	382	Alternative sequence	ID=VSP_007727;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:8315394;Dbxref=PMID:8315394
Q08379	351	381	1	1002	Chain	ID=PRO_0000190054;Note=Golgin subfamily A member 2
Q08379	351	381	16	892	Coiled coil	Ontology_term=ECO:0000255;evidence=ECO:0000255
Q08379	597	672	1	1002	Chain	ID=PRO_0000190054;Note=Golgin subfamily A member 2
Q08379	597	672	16	892	Coiled coil	Ontology_term=ECO:0000255;evidence=ECO:0000255
Q08379	736	809	1	1002	Chain	ID=PRO_0000190054;Note=Golgin subfamily A member 2
Q08379	736	809	16	892	Coiled coil	Ontology_term=ECO:0000255;evidence=ECO:0000255
Q08379	736	809	762	762	Sequence conflict	Note=R->S;Ontology_term=ECO:0000305;evidence=ECO:0000305

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SNVs in the skipped exons for GOLGA2

- 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.

GOLGA2_HNSC_exon_skip_507415_psi_boxplot.png
boxplot

GOLGA2_HNSC_exon_skip_507416_psi_boxplot.png
boxplot

GOLGA2_LUAD_exon_skip_507421_psi_boxplot.png
boxplot

GOLGA2_PAAD_exon_skip_507416_psi_boxplot.png
boxplot

GOLGA2_SKCM_exon_skip_507415_psi_boxplot.png
boxplot

GOLGA2_STAD_exon_skip_507416_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
ACC	TCGA-OR-A5LB-01	exon_skip_507416	131022744	131023081	131022875	131022875	Frame_Shift_Del	C	-	p.E516fs
STAD	TCGA-BR-7851-01	exon_skip_507416	131022744	131023081	131023072	131023072	Frame_Shift_Del	G	-	p.P450fs
LUAD	TCGA-44-8119-01	exon_skip_507421	131024842	131025371	131025343	131025346	Frame_Shift_Del	TCTC	-	p.RD293fs
PAAD	TCGA-IB-7889-01	exon_skip_507416	131022744	131023081	131022880	131022881	Frame_Shift_Ins	-	A	p.G514fs
PAAD	TCGA-IB-7889-01	exon_skip_507416	131022744	131023081	131022880	131022881	Frame_Shift_Ins	-	A	p.W514fs
BLCA	TCGA-ZF-AA4X-01	exon_skip_507413	131020259	131020477	131020360	131020360	Nonsense_Mutation	G	A	p.Q776*
SKCM	TCGA-EE-A183-06	exon_skip_507415	131021446	131021670	131021448	131021448	Nonsense_Mutation	G	A	p.Q672*
HNSC	TCGA-CV-A45O-01	exon_skip_507415	131021446	131021670	131021583	131021583	Nonsense_Mutation	G	A	p.Q627*
HNSC	TCGA-CV-7261-01	exon_skip_507416	131022744	131023081	131022971	131022971	Nonsense_Mutation	G	A	p.Q484*
BLCA	TCGA-DK-A3IT-01	exon_skip_507424	131028067	131028160	131028091	131028091	Nonsense_Mutation	G	A	p.Q241*
KIRP	TCGA-BQ-7045-01	exon_skip_507432 exon_skip_507433	131028566	131028604	131028577	131028577	Nonsense_Mutation	G	A	p.Q197*
KIRP	TCGA-BQ-7045-01	exon_skip_507432 exon_skip_507433	131028566	131028604	131028577	131028577	Nonsense_Mutation	G	A	p.Q197X
ESCA	TCGA-2H-A9GO-01	exon_skip_507439	131030396	131030439	131030440	131030440	Splice_Site	C	G	.
ESCA	TCGA-2H-A9GO-01	exon_skip_507439	131030396	131030439	131030440	131030440	Splice_Site	C	G	e4-1

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

Depth of coverage in three exons	Mutation description
	Sample: TCGA-44-8119-01
	Cancer type: LUAD
	ESID: exon_skip_507421
	Skipped exon start: 131024842
	Skipped exon end: 131025371
	Mutation start: 131025343
	Mutation end: 131025346
	Mutation type: Frame_Shift_Del
	Reference seq: TCTC
	Mutation seq: -
	AAchange: p.RD293fs
exon_skip_507421_LUAD_TCGA-44-8119-01.png
	Sample: TCGA-CV-7261-01
	Cancer type: HNSC
	ESID: exon_skip_507416
	Skipped exon start: 131022744
	Skipped exon end: 131023081
	Mutation start: 131022971
	Mutation end: 131022971
	Mutation type: Nonsense_Mutation
	Reference seq: G
	Mutation seq: A
	AAchange: p.Q484*
exon_skip_507416_HNSC_TCGA-CV-7261-01.png
	Sample: TCGA-IB-7889-01
	Cancer type: PAAD
	ESID: exon_skip_507416
	Skipped exon start: 131022744
	Skipped exon end: 131023081
	Mutation start: 131022880
	Mutation end: 131022881
	Mutation type: Frame_Shift_Ins
	Reference seq: -
	Mutation seq: A
	AAchange: p.W514fs
	Sample: TCGA-IB-7889-01
	Cancer type: PAAD
	ESID: exon_skip_507416
	Skipped exon start: 131022744
	Skipped exon end: 131023081
	Mutation start: 131022880
	Mutation end: 131022881
	Mutation type: Frame_Shift_Ins
	Reference seq: -
	Mutation seq: A
	AAchange: p.G514fs
exon_skip_507416_PAAD_TCGA-IB-7889-01.png
	Sample: TCGA-BR-7851-01
	Cancer type: STAD
	ESID: exon_skip_507416
	Skipped exon start: 131022744
	Skipped exon end: 131023081
	Mutation start: 131023072
	Mutation end: 131023072
	Mutation type: Frame_Shift_Del
	Reference seq: G
	Mutation seq: -
	AAchange: p.P450fs
exon_skip_290191_STAD_TCGA-BR-7851-01.png
exon_skip_308974_STAD_TCGA-BR-7851-01.png
exon_skip_313700_STAD_TCGA-BR-7851-01.png
exon_skip_319706_STAD_TCGA-BR-7851-01.png
exon_skip_385593_STAD_TCGA-BR-7851-01.png
exon_skip_441654_STAD_TCGA-BR-7851-01.png
exon_skip_507416_STAD_TCGA-BR-7851-01.png
exon_skip_7378_STAD_TCGA-BR-7851-01.png
exon_skip_96939_STAD_TCGA-BR-7851-01.png
	Sample: TCGA-CV-A45O-01
	Cancer type: HNSC
	ESID: exon_skip_507415
	Skipped exon start: 131021446
	Skipped exon end: 131021670
	Mutation start: 131021583
	Mutation end: 131021583
	Mutation type: Nonsense_Mutation
	Reference seq: G
	Mutation seq: A
	AAchange: p.Q627*
exon_skip_447822_HNSC_TCGA-CV-A45O-01.png
exon_skip_479756_HNSC_TCGA-CV-A45O-01.png
exon_skip_507415_HNSC_TCGA-CV-A45O-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
LNCAPCLONEFGC_PROSTATE	131022744	131023081	131023072	131023072	Frame_Shift_Del	G	-	p.P452fs
SUPT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	131024842	131025371	131025343	131025344	Frame_Shift_Del	TC	-	p.D294fs
NB69_AUTONOMIC_GANGLIA	131020259	131020477	131020381	131020381	Missense_Mutation	C	T	p.A769T
KHM1B_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	131020259	131020477	131020390	131020390	Missense_Mutation	G	A	p.R766W
ONS76_CENTRAL_NERVOUS_SYSTEM	131020259	131020477	131020390	131020390	Missense_Mutation	G	A	p.R766W
RCC10RGB_KIDNEY	131020259	131020477	131020390	131020390	Missense_Mutation	G	A	p.R766W
HCT15_LARGE_INTESTINE	131020259	131020477	131020396	131020396	Missense_Mutation	G	A	p.R764C
SNU1040_LARGE_INTESTINE	131020259	131020477	131020432	131020432	Missense_Mutation	C	T	p.A752T
CHLA32_BONE	131020259	131020477	131020447	131020447	Missense_Mutation	C	T	p.A747T
BHY_UPPER_AERODIGESTIVE_TRACT	131021446	131021670	131021589	131021589	Missense_Mutation	C	T	p.A625T
NALM6_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	131021446	131021670	131021591	131021591	Missense_Mutation	G	A	p.A624V
BB49HNC_UPPER_AERODIGESTIVE_TRACT	131022744	131023081	131022812	131022812	Missense_Mutation	G	A	p.R537C
HEC108_ENDOMETRIUM	131022744	131023081	131022827	131022827	Missense_Mutation	G	A	p.R532C
HCC202_BREAST	131022744	131023081	131022887	131022887	Missense_Mutation	C	T	p.E512K
SNU520_STOMACH	131022744	131023081	131022937	131022937	Missense_Mutation	C	T	p.R495H
HTCC3_THYROID	131022744	131023081	131022983	131022983	Missense_Mutation	C	T	p.A480T
CCK81_LARGE_INTESTINE	131022744	131023081	131023067	131023067	Missense_Mutation	G	A	p.P452S
KNS62_LUNG	131023947	131024036	131024015	131024015	Missense_Mutation	G	A	p.P359S
TOV21G_OVARY	131024842	131025371	131024902	131024902	Missense_Mutation	C	T	p.M331I
LNCAPCLONEFGC_PROSTATE	131024842	131025371	131024928	131024928	Missense_Mutation	C	T	p.V323I
ISHIKAWAHERAKLIO02ER_ENDOMETRIUM	131024842	131025371	131025335	131025335	Missense_Mutation	T	C	p.R297G
MEWO_SKIN	131028067	131028160	131028070	131028070	Missense_Mutation	C	T	p.E248K
OMC1_CERVIX	131028067	131028160	131028129	131028129	Missense_Mutation	G	A	p.S228L
PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	131028566	131028604	131028582	131028582	Missense_Mutation	G	A	p.T195M
LOVO_LARGE_INTESTINE	131029473	131029553	131029514	131029514	Missense_Mutation	A	G	p.Y174H
HEC108_ENDOMETRIUM	131029473	131029553	131029526	131029526	Missense_Mutation	G	T	p.L170M
NCIH2342_LUNG	131030396	131030439	131030403	131030403	Missense_Mutation	C	T	p.E117K
LOXIMVI_SKIN	131030396	131030439	131030418	131030418	Missense_Mutation	G	A	p.P112S
SNU81_LARGE_INTESTINE	131030699	131030803	131030703	131030703	Missense_Mutation	G	T	p.S103Y
SNU175_LARGE_INTESTINE	131030699	131030803	131030710	131030710	Missense_Mutation	C	T	p.A101T
RH30_SOFT_TISSUE	131030699	131030803	131030767	131030767	Missense_Mutation	C	A	p.D82Y
HEC1_ENDOMETRIUM	131020259	131020477	131020435	131020435	Nonsense_Mutation	G	A	p.Q751*
CHSA8926_BONE	131024842	131025371	131024983	131024983	Splice_Site	G	C	p.T304T
CAL39_VULVA	131028067	131028160	131028159	131028159	Splice_Site	A	T	p.V218D
DAUDI_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	131029473	131029553	131029552	131029552	Splice_Site	C	T	p.S161N

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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for GOLGA2

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 GOLGA2

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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for GOLGA2

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RelatedDrugs for GOLGA2

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 GOLGA2

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 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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