ExonSkipDB: functional annotation of exon skipping event in human

Gene summary for ASTN2

Gene summary

Gene information	Gene symbol	ASTN2
	Gene ID	23245
	Gene name	astrotactin 2
	Synonyms	bA67K19.1
	Cytomap	9q33.1
	Type of gene	protein-coding
	Description	astrotactin-2
	Modification date	20180519
	UniProtAcc	O75129
	Context	PubMed: ASTN2 [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

Top

Exon skipping events across known transcript of Ensembl for ASTN2 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.

Top

Gene isoform structures and expression levels for ASTN2

Expression levels of gene isoforms across TCGA.

Expression levels of gene isoforms across GTEx.

Top

Exon skipping events with PSIs in TCGA for ASTN2

Information of exkip skipping event in TCGA.

Exon skip ID	chr	Exons involved in exon skipping	Skipped exon	ENSG	ENSTs
exon_skip_506483	9	119204731:119204832:119249637:119249779:119380602:119380751	119249637:119249779	ENSG00000148219.12	ENST00000373986.3,ENST00000341734.4,ENST00000288520.5,ENST00000313400.4,ENST00000373996.3,ENST00000361209.2,ENST00000361477.3
exon_skip_506488	9	119382588:119382722:119413806:119414072:119449344:119449500	119413806:119414072	ENSG00000148219.12	ENST00000341734.4,ENST00000358637.4
exon_skip_506489	9	119382588:119382722:119413806:119414072:119488049:119488229	119413806:119414072	ENSG00000148219.12	ENST00000373986.3,ENST00000313400.4,ENST00000373996.3,ENST00000361209.2,ENST00000361477.3
exon_skip_506490	9	119413806:119414072:119488049:119488229:119491270:119491375	119488049:119488229	ENSG00000148219.12	ENST00000373986.3,ENST00000313400.4,ENST00000373996.3,ENST00000361209.2,ENST00000361477.3
exon_skip_506492	9	119488049:119488229:119491270:119491375:119495677:119495802	119491270:119491375	ENSG00000148219.12	ENST00000373986.3,ENST00000313400.4,ENST00000373996.3,ENST00000361209.2,ENST00000361477.3
exon_skip_506495	9	119491270:119491375:119495677:119495802:119567910:119568099	119495677:119495802	ENSG00000148219.12	ENST00000373986.3,ENST00000313400.4,ENST00000373996.3,ENST00000361209.2,ENST00000361477.3
exon_skip_506496	9	119495677:119495802:119567910:119568099:119582895:119583062	119567910:119568099	ENSG00000148219.12	ENST00000373986.3,ENST00000313400.4,ENST00000373996.3,ENST00000361209.2,ENST00000361477.3
exon_skip_506498	9	119770370:119770538:119802097:119802244:119858322:119858430	119802097:119802244	ENSG00000148219.12	ENST00000373986.3,ENST00000313400.4,ENST00000373996.3,ENST00000361209.2,ENST00000361477.3
exon_skip_506499	9	119802097:119802244:119858322:119858430:119903604:119903754	119858322:119858430	ENSG00000148219.12	ENST00000373986.3,ENST00000313400.4,ENST00000373996.3
exon_skip_506504	9	119858322:119858430:119903604:119903757:119976636:119976832	119903604:119903757	ENSG00000148219.12	ENST00000373986.3,ENST00000313400.4,ENST00000373996.3
exon_skip_506505	9	119976636:119977021:120053604:120053792:120176774:120177216	120053604:120053792	ENSG00000148219.12	ENST00000373996.3,ENST00000361209.2,ENST00000361477.3

PSI values of skipped exons in TCGA.

Top

Exon skipping events with PSIs in GTEx for ASTN2

Information of exkip skipping event in GTEx

Exon skip ID	chr	Exons involved in exon skipping	Skipped exon	ENSG	ENSTs
exon_skip_506483	9	119204731:119204832:119249637:119249779:119380602:119380751	119249637:119249779	ENSG00000148219.12	ENST00000313400.4,ENST00000373996.3,ENST00000288520.5,ENST00000341734.4,ENST00000373986.3,ENST00000361209.2,ENST00000361477.3
exon_skip_506488	9	119382588:119382722:119413806:119414072:119449344:119449500	119413806:119414072	ENSG00000148219.12	ENST00000341734.4,ENST00000358637.4
exon_skip_506489	9	119382588:119382722:119413806:119414072:119488049:119488229	119413806:119414072	ENSG00000148219.12	ENST00000313400.4,ENST00000373996.3,ENST00000373986.3,ENST00000361209.2,ENST00000361477.3
exon_skip_506490	9	119413806:119414072:119488049:119488229:119491270:119491375	119488049:119488229	ENSG00000148219.12	ENST00000313400.4,ENST00000373996.3,ENST00000373986.3,ENST00000361209.2,ENST00000361477.3
exon_skip_506492	9	119488049:119488229:119491270:119491375:119495677:119495802	119491270:119491375	ENSG00000148219.12	ENST00000313400.4,ENST00000373996.3,ENST00000373986.3,ENST00000361209.2,ENST00000361477.3
exon_skip_506495	9	119491270:119491375:119495677:119495802:119567910:119568099	119495677:119495802	ENSG00000148219.12	ENST00000313400.4,ENST00000373996.3,ENST00000373986.3,ENST00000361209.2,ENST00000361477.3
exon_skip_506496	9	119495677:119495802:119567910:119568099:119582895:119583062	119567910:119568099	ENSG00000148219.12	ENST00000313400.4,ENST00000373996.3,ENST00000373986.3,ENST00000361209.2,ENST00000361477.3
exon_skip_506498	9	119770370:119770538:119802097:119802244:119858322:119858430	119802097:119802244	ENSG00000148219.12	ENST00000313400.4,ENST00000373996.3,ENST00000373986.3,ENST00000361209.2,ENST00000361477.3
exon_skip_506499	9	119802097:119802244:119858322:119858430:119903604:119903754	119858322:119858430	ENSG00000148219.12	ENST00000313400.4,ENST00000373996.3,ENST00000373986.3
exon_skip_506504	9	119858322:119858430:119903604:119903757:119976636:119976832	119903604:119903757	ENSG00000148219.12	ENST00000313400.4,ENST00000373996.3,ENST00000373986.3

PSI values of skipped exons in GTEx.

* Skipped exon sequences.

Top

Open reading frame (ORF) annotation in the exon skipping event for ASTN2

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
ENST00000313400	119249637	119249779	Frame-shift
ENST00000313400	119413806	119414072	Frame-shift
ENST00000313400	119495677	119495802	Frame-shift
ENST00000313400	119488049	119488229	In-frame
ENST00000313400	119491270	119491375	In-frame
ENST00000313400	119567910	119568099	In-frame
ENST00000313400	119802097	119802244	In-frame
ENST00000313400	119858322	119858430	In-frame
ENST00000313400	119903604	119903757	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
ENST00000313400	119249637	119249779	Frame-shift
ENST00000313400	119413806	119414072	Frame-shift
ENST00000313400	119495677	119495802	Frame-shift
ENST00000313400	119488049	119488229	In-frame
ENST00000313400	119491270	119491375	In-frame
ENST00000313400	119567910	119568099	In-frame
ENST00000313400	119802097	119802244	In-frame
ENST00000313400	119858322	119858430	In-frame
ENST00000313400	119903604	119903757	In-frame

Top

Infer the effects of exon skipping event on protein functional features for ASTN2

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
ENST00000313400	4764	1339	119903604	119903757	1117	1269	338	389
ENST00000313400	4764	1339	119858322	119858430	1270	1377	389	425
ENST00000313400	4764	1339	119802097	119802244	1378	1524	425	474
ENST00000313400	4764	1339	119567910	119568099	2309	2497	736	798
ENST00000313400	4764	1339	119491270	119491375	2623	2727	840	875
ENST00000313400	4764	1339	119488049	119488229	2728	2907	875	935

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
ENST00000313400	4764	1339	119903604	119903757	1117	1269	338	389
ENST00000313400	4764	1339	119858322	119858430	1270	1377	389	425
ENST00000313400	4764	1339	119802097	119802244	1378	1524	425	474
ENST00000313400	4764	1339	119567910	119568099	2309	2497	736	798
ENST00000313400	4764	1339	119491270	119491375	2623	2727	840	875
ENST00000313400	4764	1339	119488049	119488229	2728	2907	875	935

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

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

Top

SNVs in the skipped exons for ASTN2

- 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
OV	TCGA-13-0751-01	exon_skip_506483	119249638	119249779	119249758	119249767	Frame_Shift_Del	TCAGCAAAAC	-	p.S1072fs
LIHC	TCGA-G3-A3CJ-01	exon_skip_506495	119495678	119495802	119495702	119495702	Frame_Shift_Del	G	-	p.L833fs
SARC	TCGA-X6-A8C3-01	exon_skip_506495	119495678	119495802	119495717	119495717	Frame_Shift_Del	C	-	p.V828fs
STAD	TCGA-BR-8487-01	exon_skip_506495	119495678	119495802	119495717	119495717	Frame_Shift_Del	C	-	p.V777fs
LIHC	TCGA-DD-A39Y-01	exon_skip_506496	119567911	119568099	119568063	119568063	Frame_Shift_Del	T	-	p.K748fs
SKCM	TCGA-W3-AA1V-06	exon_skip_506504	119903605	119903757	119903608	119903608	Frame_Shift_Del	G	-	p.R389fs
SKCM	TCGA-BF-A1Q0-01	exon_skip_506496	119567911	119568099	119567924	119567924	Nonsense_Mutation	G	A	p.Q795*
HNSC	TCGA-CV-5432-01	exon_skip_506496	119567911	119568099	119567939	119567939	Nonsense_Mutation	G	A	p.Q790*
SKCM	TCGA-EE-A3JD-06	exon_skip_506496	119567911	119568099	119567939	119567939	Nonsense_Mutation	G	A	p.Q739X
SKCM	TCGA-EE-A3JD-06	exon_skip_506496	119567911	119568099	119567939	119567939	Nonsense_Mutation	G	A	p.Q790*
LUAD	TCGA-55-A490-01	exon_skip_506499	119858323	119858430	119858357	119858357	Nonsense_Mutation	G	T	p.Y414*
SKCM	TCGA-EE-A2MI-06	exon_skip_506504	119903605	119903757	119903608	119903608	Nonsense_Mutation	G	A	p.R389*
SKCM	TCGA-QB-A6FS-06	exon_skip_506504	119903605	119903757	119903608	119903608	Nonsense_Mutation	G	A	p.R389*
LUAD	TCGA-95-A4VK-01	exon_skip_506504	119903605	119903757	119903668	119903668	Nonsense_Mutation	G	A	p.Q369*
LUAD	TCGA-69-A59K-01	exon_skip_506505	120053605	120053792	120053651	120053651	Nonsense_Mutation	G	T	p.S195*
SKCM	TCGA-YG-AA3O-06	exon_skip_506505	120053605	120053792	120053753	120053753	Nonsense_Mutation	C	T	p.W161*
STAD	TCGA-D7-A4YV-01	exon_skip_506495	119495678	119495802	119495677	119495677	Splice_Site	C	T	p.G841_splice
LIHC	TCGA-ES-A2HT-01	exon_skip_506499	119858323	119858430	119858432	119858432	Splice_Site	T	A	.
SKCM	TCGA-EE-A29M-06	exon_skip_506505	120053605	120053792	120053793	120053793	Splice_Site	C	T	.

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

Depth of coverage in three exons

Mutation description

- 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
HEC59_ENDOMETRIUM	119495678	119495802	119495716	119495717	Frame_Shift_Ins	-	C	p.V828fs
H9_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	119249638	119249779	119249700	119249700	Missense_Mutation	C	A	p.E1145D
HEC59_ENDOMETRIUM	119413807	119414072	119413845	119413845	Missense_Mutation	G	T	p.P1012T
HEC108_ENDOMETRIUM	119413807	119414072	119413883	119413883	Missense_Mutation	C	T	p.S999N
UMUC5_URINARY_TRACT	119413807	119414072	119413904	119413904	Missense_Mutation	C	T	p.R992Q
HCT15_LARGE_INTESTINE	119413807	119414072	119413904	119413904	Missense_Mutation	C	T	p.R992Q
ES8_BONE	119413807	119414072	119413925	119413925	Missense_Mutation	G	A	p.S985F
NCIH1694_LUNG	119413807	119414072	119413979	119413979	Missense_Mutation	T	A	p.D967V
JMSU1_URINARY_TRACT	119413807	119414072	119414012	119414012	Missense_Mutation	G	A	p.S956L
SNU1040_LARGE_INTESTINE	119413807	119414072	119414032	119414032	Missense_Mutation	C	T	p.M949I
MDAPCA2B_PROSTATE	119413807	119414072	119414058	119414058	Missense_Mutation	C	A	p.G941C
NCIH2342_LUNG	119491271	119491375	119491334	119491334	Missense_Mutation	G	C	p.Q855E
HT115_LARGE_INTESTINE	119495678	119495802	119495684	119495684	Missense_Mutation	G	A	p.L839F
NCIH510_LUNG	119495678	119495802	119495696	119495696	Missense_Mutation	C	A	p.D835Y
LN229_CENTRAL_NERVOUS_SYSTEM	119495678	119495802	119495710	119495710	Missense_Mutation	G	C	p.S830C
MAC2A_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	119495678	119495802	119495741	119495741	Missense_Mutation	G	C	p.P820A
RPMI8402_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	119567911	119568099	119567933	119567933	Missense_Mutation	G	T	p.Q792K
HEC108_ENDOMETRIUM	119567911	119568099	119568023	119568023	Missense_Mutation	A	G	p.C762R
YT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	119567911	119568099	119568044	119568044	Missense_Mutation	C	T	p.D755N
NCCIT_TESTIS	119567911	119568099	119568068	119568068	Missense_Mutation	C	T	p.G747R
MM386_SKIN	119567911	119568099	119568074	119568074	Missense_Mutation	G	A	p.P745S
HO1U1_UPPER_AERODIGESTIVE_TRACT	119567911	119568099	119568076	119568076	Missense_Mutation	G	T	p.A744D
NCIH661_LUNG	119567911	119568099	119568086	119568086	Missense_Mutation	A	T	p.Y741N
TGBC11TKB_STOMACH	119802098	119802244	119802116	119802116	Missense_Mutation	C	T	p.E469K
NB14_AUTONOMIC_GANGLIA	119802098	119802244	119802190	119802190	Missense_Mutation	G	A	p.S444F
LN229_CENTRAL_NERVOUS_SYSTEM	119802098	119802244	119802232	119802232	Missense_Mutation	C	A	p.S430I
NCIH2087_LUNG	119802098	119802244	119802240	119802240	Missense_Mutation	C	A	p.L427F
HCC1569_BREAST	119858323	119858430	119858329	119858329	Missense_Mutation	T	G	p.S424R
SNU738_CENTRAL_NERVOUS_SYSTEM	119858323	119858430	119858332	119858332	Missense_Mutation	G	T	p.R423S
NCIH1930_LUNG	119858323	119858430	119858335	119858335	Missense_Mutation	G	T	p.R422S
LU134A_LUNG	119858323	119858430	119858344	119858344	Missense_Mutation	G	T	p.R419S
SNUC5_LARGE_INTESTINE	119858323	119858430	119858380	119858380	Missense_Mutation	C	T	p.D407N
SNU1040_LARGE_INTESTINE	119858323	119858430	119858401	119858401	Missense_Mutation	T	C	p.T400A
SCH_STOMACH	119858323	119858430	119858417	119858417	Missense_Mutation	A	T	p.F394L
TCYIK_CERVIX	119858323	119858430	119858427	119858427	Missense_Mutation	C	A	p.G391V
NCIH1435_LUNG	119903605	119903757	119903607	119903607	Missense_Mutation	C	A	p.R389L
CTV1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	119903605	119903757	119903622	119903622	Missense_Mutation	C	T	p.R384Q
AU565_BREAST	119903605	119903757	119903646	119903646	Missense_Mutation	C	A	p.S376I
GOS3_CENTRAL_NERVOUS_SYSTEM	119903605	119903757	119903650	119903650	Missense_Mutation	G	A	p.R375C
TE8_OESOPHAGUS	119903605	119903757	119903671	119903671	Missense_Mutation	C	T	p.G368S
HEP3B217_LIVER	119903605	119903757	119903672	119903672	Missense_Mutation	G	C	p.I367M
HEC251_ENDOMETRIUM	119903605	119903757	119903683	119903683	Missense_Mutation	G	A	p.P364S
SW1463_LARGE_INTESTINE	119903605	119903757	119903685	119903685	Missense_Mutation	G	A	p.T363M
NCIH1436_LUNG	119903605	119903757	119903694	119903694	Missense_Mutation	C	A	p.R360L
NCIH810_LUNG	119903605	119903757	119903704	119903704	Missense_Mutation	C	T	p.E357K
HUG1N_STOMACH	119903605	119903757	119903712	119903712	Missense_Mutation	T	G	p.K354T
MEWO_SKIN	119903605	119903757	119903737	119903737	Missense_Mutation	C	T	p.E346K
UMUC6_URINARY_TRACT	120053605	120053792	120053656	120053656	Missense_Mutation	C	A	p.E193D
MORCPR_LUNG	120053605	120053792	120053673	120053673	Missense_Mutation	C	T	p.A188T
CORL23_LUNG	120053605	120053792	120053676	120053676	Missense_Mutation	T	A	p.T187S
TF1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	120053605	120053792	120053678	120053678	Missense_Mutation	G	A	p.A186V
MET2B	120053605	120053792	120053696	120053696	Missense_Mutation	G	A	p.S180F
NCIH2023_LUNG	120053605	120053792	120053704	120053704	Missense_Mutation	C	A	p.M177I
NCIH520_LUNG	120053605	120053792	120053764	120053765	Missense_Mutation	CG	GA	p.S157F
NCIH520_LUNG	120053605	120053792	120053765	120053765	Missense_Mutation	G	A	p.S157L
HO1N1_UPPER_AERODIGESTIVE_TRACT	120053605	120053792	120053783	120053783	Missense_Mutation	C	T	p.G151D
ES2_OVARY	119488050	119488229	119488108	119488108	Nonsense_Mutation	G	T	p.C916*
KMH2_THYROID	119567911	119568099	119568068	119568068	Nonsense_Mutation	C	A	p.G747*
NCIH2009_LUNG	119567911	119568099	119568092	119568092	Nonsense_Mutation	C	A	p.E739*

Top

Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for ASTN2

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

Top

Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for ASTN2

Top

Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for ASTN2

Top

RelatedDrugs for ASTN2

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

Top

RelatedDiseases for ASTN2

Diseases associated with this gene.
(DisGeNet 4.0)

Gene	Disease ID	Disease name	# pubmeds	Source
ASTN2	C0036341	Schizophrenia	2	PSYGENET
ASTN2	C0004352	Autistic Disorder	1	CTD_human
ASTN2	C0005586	Bipolar Disorder	1	PSYGENET
ASTN2	C0236733	Amphetamine-Related Disorders	1	CTD_human
ASTN2	C0338480	Common Migraine	1	CTD_human

	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

Home

Download

Statistics

Landscape

Help

Contact