ExonSkipDB: functional annotation of exon skipping event in human

Gene summary for AGRN

Gene summary

Gene information	Gene symbol	AGRN
	Gene ID	375790
	Gene name	agrin
	Synonyms	AGRIN\|CMS8\|CMSPPD
	Cytomap	1p36.33
	Type of gene	protein-coding
	Description	agrinagrin proteoglycan
	Modification date	20180522
	UniProtAcc	O00468
	Context	PubMed: AGRN [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
AGRN	GO:0043113	receptor clustering	15340048

Top

Exon skipping events across known transcript of Ensembl for AGRN 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 AGRN

Expression levels of gene isoforms across TCGA.

Expression levels of gene isoforms across GTEx.

Top

Exon skipping events with PSIs in TCGA for AGRN

Information of exkip skipping event in TCGA.

Exon skip ID	chr	Exons involved in exon skipping	Skipped exon	ENSG	ENSTs
exon_skip_101	1	987125:987195:987372:987396:988840:988873	987372:987396	ENSG00000188157.9	ENST00000419249.1
exon_skip_107	1	987125:987195:989132:989357:989827:989931	989132:989357	ENSG00000188157.9	ENST00000379370.2
exon_skip_108	1	987372:987396:988840:988873:989132:989330	988840:988873	ENSG00000188157.9	ENST00000419249.1
exon_skip_55	1	970656:970704:976044:976260:976552:976777	976044:976260	ENSG00000188157.9	ENST00000469403.1,ENST00000379370.2
exon_skip_58	1	976857:977082:977335:977542:978618:978837	977335:977542	ENSG00000188157.9	ENST00000379370.2
exon_skip_68	1	978618:978837:978917:979112:979202:979403	978917:979112	ENSG00000188157.9	ENST00000379370.2
exon_skip_73	1	978917:979112:979202:979403:979488:979637	979202:979403	ENSG00000188157.9	ENST00000379370.2
exon_skip_77	1	979713:979819:980540:980657:980738:980903	980540:980657	ENSG00000188157.9	ENST00000379370.2
exon_skip_79	1	981112:981256:981343:981468:981539:981645	981343:981468	ENSG00000188157.9	ENST00000479707.1,ENST00000379370.2
exon_skip_83	1	981343:981468:981539:981645:981776:982115	981539:981645	ENSG00000188157.9	ENST00000379370.2
exon_skip_87	1	984615:984831:984945:985175:985282:985417	984945:985175	ENSG00000188157.9	ENST00000379370.2
exon_skip_89	1	986111:986217:986411:986423:986632:986749	986411:986423	ENSG00000188157.9	ENST00000419249.1
exon_skip_91	1	986632:986749:986832:987025:987107:987195	986832:987025	ENSG00000188157.9	ENST00000379370.2,ENST00000419249.1

PSI values of skipped exons in TCGA.

Top

Exon skipping events with PSIs in GTEx for AGRN

Information of exkip skipping event in GTEx

Exon skip ID	chr	Exons involved in exon skipping	Skipped exon	ENSG	ENSTs
exon_skip_101	1	987125:987195:987372:987396:988840:988873	987372:987396	ENSG00000188157.9	ENST00000419249.1
exon_skip_107	1	987125:987195:989132:989357:989827:989931	989132:989357	ENSG00000188157.9	ENST00000379370.2
exon_skip_108	1	987372:987396:988840:988873:989132:989330	988840:988873	ENSG00000188157.9	ENST00000419249.1
exon_skip_55	1	970656:970704:976044:976260:976552:976777	976044:976260	ENSG00000188157.9	ENST00000379370.2,ENST00000469403.1
exon_skip_58	1	976857:977082:977335:977542:978618:978837	977335:977542	ENSG00000188157.9	ENST00000379370.2
exon_skip_68	1	978618:978837:978917:979112:979202:979403	978917:979112	ENSG00000188157.9	ENST00000379370.2
exon_skip_73	1	978917:979112:979202:979403:979488:979637	979202:979403	ENSG00000188157.9	ENST00000379370.2
exon_skip_77	1	979713:979819:980540:980657:980738:980903	980540:980657	ENSG00000188157.9	ENST00000379370.2
exon_skip_79	1	981112:981256:981343:981468:981539:981645	981343:981468	ENSG00000188157.9	ENST00000379370.2,ENST00000479707.1
exon_skip_83	1	981343:981468:981539:981645:981776:982115	981539:981645	ENSG00000188157.9	ENST00000379370.2
exon_skip_87	1	984615:984831:984945:985175:985282:985417	984945:985175	ENSG00000188157.9	ENST00000379370.2
exon_skip_89	1	986111:986217:986411:986423:986632:986749	986411:986423	ENSG00000188157.9	ENST00000419249.1
exon_skip_91	1	986632:986749:986832:987025:987107:987195	986832:987025	ENSG00000188157.9	ENST00000379370.2,ENST00000419249.1

PSI values of skipped exons in GTEx.

* Skipped exon sequences.

Top

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

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

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

Top

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

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

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

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 AGRN

- 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.

AGRN_KIRC_exon_skip_87_psi_boxplot.png
boxplot

AGRN_LIHC_exon_skip_87_psi_boxplot.png
boxplot

AGRN_READ_exon_skip_87_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-A39Y-01	exon_skip_68	978918	979112	979007	979007	Frame_Shift_Del	C	-	p.P565fs
KIRC	TCGA-CJ-4902-01	exon_skip_73	979203	979403	979247	979251	Frame_Shift_Del	GCAGG	-	p.614_616del
KIRC	TCGA-CJ-4902-01	exon_skip_73	979203	979403	979247	979251	Frame_Shift_Del	GCAGG	-	p.AG615fs
ACC	TCGA-PK-A5HB-01	exon_skip_73	979203	979403	979279	979279	Frame_Shift_Del	C	-	p.H625fs
COAD	TCGA-A6-6780-01	exon_skip_73	979203	979403	979279	979279	Frame_Shift_Del	C	-	p.H625fs
SARC	TCGA-QQ-A8VF-01	exon_skip_73	979203	979403	979279	979279	Frame_Shift_Del	C	-	p.H625fs
STAD	TCGA-HU-A4GT-01	exon_skip_73	979203	979403	979279	979279	Frame_Shift_Del	C	-	p.H625fs
LIHC	TCGA-G3-A3CJ-01	exon_skip_77	980541	980657	980571	980571	Frame_Shift_Del	C	-	p.A762fs
PCPG	TCGA-PR-A5PF-01	exon_skip_77	980541	980657	980571	980571	Frame_Shift_Del	C	-	p.A762fs
STAD	TCGA-BR-8487-01	exon_skip_77	980541	980657	980571	980571	Frame_Shift_Del	C	-	p.A762fs
SKCM	TCGA-ER-A193-06	exon_skip_77	980541	980657	980604	980626	Frame_Shift_Del	GCTGCCAGGACAATATCACCGCA	-	p.CCQDNITA773fs
LIHC	TCGA-G3-A3CJ-01	exon_skip_87	984946	985175	984981	984981	Frame_Shift_Del	G	-	p.R1517fs
READ	TCGA-EI-6882-01	exon_skip_87	984946	985175	984981	984981	Frame_Shift_Del	G	-	p.R1517fs
LIHC	TCGA-DD-A1EG-01	exon_skip_87	984946	985175	984994	984994	Frame_Shift_Del	T	-	p.R1521fs
KIRC	TCGA-B0-5110-01	exon_skip_87	984946	985175	985094	985094	Frame_Shift_Del	C	-	p.P1555fs
UCS	TCGA-N6-A4VF-01	exon_skip_87	984946	985175	985167	985168	Frame_Shift_Ins	-	C	p.A1579fs
COAD	TCGA-A6-5665-01	exon_skip_58	977336	977542	977503	977503	Nonsense_Mutation	C	T	p.Q449X
LUAD	TCGA-50-5045-01	exon_skip_73	979203	979403	979211	979211	Nonsense_Mutation	G	T	p.G603*
STAD	TCGA-CG-4465-01	exon_skip_77	980541	980657	980540	980540	Splice_Site	G	T	.
STAD	TCGA-CG-4465-01	exon_skip_77	980541	980657	980540	980540	Splice_Site	G	T	p.G752_splice

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

Depth of coverage in three exons	Mutation description
	Sample: TCGA-B0-5110-01
	Cancer type: KIRC
	ESID: exon_skip_87
	Skipped exon start: 984946
	Skipped exon end: 985175
	Mutation start: 985094
	Mutation end: 985094
	Mutation type: Frame_Shift_Del
	Reference seq: C
	Mutation seq: -
	AAchange: p.P1555fs
exon_skip_87_KIRC_TCGA-B0-5110-01.png
exon_skip_97789_KIRC_TCGA-B0-5110-01.png
	Sample: TCGA-DD-A1EG-01
	Cancer type: LIHC
	ESID: exon_skip_87
	Skipped exon start: 984946
	Skipped exon end: 985175
	Mutation start: 984994
	Mutation end: 984994
	Mutation type: Frame_Shift_Del
	Reference seq: T
	Mutation seq: -
	AAchange: p.R1521fs
exon_skip_103075_LIHC_TCGA-DD-A1EG-01.png
exon_skip_100809_LIHC_TCGA-DD-A1EG-01.png
exon_skip_101656_LIHC_TCGA-DD-A1EG-01.png
exon_skip_10700_LIHC_TCGA-DD-A1EG-01.png
exon_skip_109033_LIHC_TCGA-DD-A1EG-01.png
exon_skip_110000_LIHC_TCGA-DD-A1EG-01.png
exon_skip_110381_LIHC_TCGA-DD-A1EG-01.png
exon_skip_110545_LIHC_TCGA-DD-A1EG-01.png
exon_skip_11218_LIHC_TCGA-DD-A1EG-01.png
exon_skip_11256_LIHC_TCGA-DD-A1EG-01.png
exon_skip_11259_LIHC_TCGA-DD-A1EG-01.png
exon_skip_11263_LIHC_TCGA-DD-A1EG-01.png
exon_skip_115462_LIHC_TCGA-DD-A1EG-01.png
exon_skip_115587_LIHC_TCGA-DD-A1EG-01.png
exon_skip_116330_LIHC_TCGA-DD-A1EG-01.png
exon_skip_121002_LIHC_TCGA-DD-A1EG-01.png
exon_skip_123667_LIHC_TCGA-DD-A1EG-01.png
exon_skip_12440_LIHC_TCGA-DD-A1EG-01.png
exon_skip_125045_LIHC_TCGA-DD-A1EG-01.png
exon_skip_129202_LIHC_TCGA-DD-A1EG-01.png
exon_skip_129996_LIHC_TCGA-DD-A1EG-01.png
exon_skip_130099_LIHC_TCGA-DD-A1EG-01.png
exon_skip_13071_LIHC_TCGA-DD-A1EG-01.png
exon_skip_131505_LIHC_TCGA-DD-A1EG-01.png
exon_skip_131697_LIHC_TCGA-DD-A1EG-01.png
exon_skip_133542_LIHC_TCGA-DD-A1EG-01.png
exon_skip_133548_LIHC_TCGA-DD-A1EG-01.png
exon_skip_134792_LIHC_TCGA-DD-A1EG-01.png
exon_skip_135418_LIHC_TCGA-DD-A1EG-01.png
exon_skip_135741_LIHC_TCGA-DD-A1EG-01.png
exon_skip_135763_LIHC_TCGA-DD-A1EG-01.png
exon_skip_135820_LIHC_TCGA-DD-A1EG-01.png
exon_skip_13608_LIHC_TCGA-DD-A1EG-01.png
exon_skip_138255_LIHC_TCGA-DD-A1EG-01.png
exon_skip_138373_LIHC_TCGA-DD-A1EG-01.png
exon_skip_138947_LIHC_TCGA-DD-A1EG-01.png
exon_skip_140996_LIHC_TCGA-DD-A1EG-01.png
exon_skip_141914_LIHC_TCGA-DD-A1EG-01.png
exon_skip_143553_LIHC_TCGA-DD-A1EG-01.png
exon_skip_143841_LIHC_TCGA-DD-A1EG-01.png
exon_skip_143843_LIHC_TCGA-DD-A1EG-01.png
exon_skip_144075_LIHC_TCGA-DD-A1EG-01.png
exon_skip_144116_LIHC_TCGA-DD-A1EG-01.png
exon_skip_144125_LIHC_TCGA-DD-A1EG-01.png
exon_skip_146762_LIHC_TCGA-DD-A1EG-01.png
exon_skip_146776_LIHC_TCGA-DD-A1EG-01.png
exon_skip_146807_LIHC_TCGA-DD-A1EG-01.png
exon_skip_14772_LIHC_TCGA-DD-A1EG-01.png
exon_skip_148738_LIHC_TCGA-DD-A1EG-01.png
exon_skip_148740_LIHC_TCGA-DD-A1EG-01.png
exon_skip_14897_LIHC_TCGA-DD-A1EG-01.png
exon_skip_14899_LIHC_TCGA-DD-A1EG-01.png
exon_skip_15042_LIHC_TCGA-DD-A1EG-01.png
exon_skip_150985_LIHC_TCGA-DD-A1EG-01.png
exon_skip_153494_LIHC_TCGA-DD-A1EG-01.png
exon_skip_155021_LIHC_TCGA-DD-A1EG-01.png
exon_skip_16928_LIHC_TCGA-DD-A1EG-01.png
exon_skip_17317_LIHC_TCGA-DD-A1EG-01.png
exon_skip_17318_LIHC_TCGA-DD-A1EG-01.png
exon_skip_17943_LIHC_TCGA-DD-A1EG-01.png
exon_skip_18708_LIHC_TCGA-DD-A1EG-01.png
exon_skip_19048_LIHC_TCGA-DD-A1EG-01.png
exon_skip_1906_LIHC_TCGA-DD-A1EG-01.png
exon_skip_19372_LIHC_TCGA-DD-A1EG-01.png
exon_skip_19902_LIHC_TCGA-DD-A1EG-01.png
exon_skip_20061_LIHC_TCGA-DD-A1EG-01.png
exon_skip_22876_LIHC_TCGA-DD-A1EG-01.png
exon_skip_2523_LIHC_TCGA-DD-A1EG-01.png
exon_skip_26461_LIHC_TCGA-DD-A1EG-01.png
exon_skip_27038_LIHC_TCGA-DD-A1EG-01.png
exon_skip_27065_LIHC_TCGA-DD-A1EG-01.png
exon_skip_283878_LIHC_TCGA-DD-A1EG-01.png
exon_skip_284109_LIHC_TCGA-DD-A1EG-01.png
exon_skip_288112_LIHC_TCGA-DD-A1EG-01.png
exon_skip_290222_LIHC_TCGA-DD-A1EG-01.png
exon_skip_290223_LIHC_TCGA-DD-A1EG-01.png
exon_skip_29032_LIHC_TCGA-DD-A1EG-01.png
exon_skip_290_LIHC_TCGA-DD-A1EG-01.png
exon_skip_291361_LIHC_TCGA-DD-A1EG-01.png
exon_skip_291973_LIHC_TCGA-DD-A1EG-01.png
exon_skip_29487_LIHC_TCGA-DD-A1EG-01.png
exon_skip_295443_LIHC_TCGA-DD-A1EG-01.png
exon_skip_297892_LIHC_TCGA-DD-A1EG-01.png
exon_skip_299242_LIHC_TCGA-DD-A1EG-01.png
exon_skip_30164_LIHC_TCGA-DD-A1EG-01.png
exon_skip_30165_LIHC_TCGA-DD-A1EG-01.png
exon_skip_302094_LIHC_TCGA-DD-A1EG-01.png
exon_skip_302095_LIHC_TCGA-DD-A1EG-01.png
exon_skip_302097_LIHC_TCGA-DD-A1EG-01.png
exon_skip_302181_LIHC_TCGA-DD-A1EG-01.png
exon_skip_305812_LIHC_TCGA-DD-A1EG-01.png
exon_skip_305815_LIHC_TCGA-DD-A1EG-01.png
exon_skip_3064_LIHC_TCGA-DD-A1EG-01.png
exon_skip_307291_LIHC_TCGA-DD-A1EG-01.png
exon_skip_307292_LIHC_TCGA-DD-A1EG-01.png
exon_skip_30744_LIHC_TCGA-DD-A1EG-01.png
exon_skip_307494_LIHC_TCGA-DD-A1EG-01.png
exon_skip_307495_LIHC_TCGA-DD-A1EG-01.png
exon_skip_30789_LIHC_TCGA-DD-A1EG-01.png
exon_skip_30792_LIHC_TCGA-DD-A1EG-01.png
exon_skip_308209_LIHC_TCGA-DD-A1EG-01.png
exon_skip_308211_LIHC_TCGA-DD-A1EG-01.png
exon_skip_308911_LIHC_TCGA-DD-A1EG-01.png
exon_skip_309060_LIHC_TCGA-DD-A1EG-01.png
exon_skip_309486_LIHC_TCGA-DD-A1EG-01.png
exon_skip_309505_LIHC_TCGA-DD-A1EG-01.png
exon_skip_309539_LIHC_TCGA-DD-A1EG-01.png
exon_skip_311823_LIHC_TCGA-DD-A1EG-01.png
exon_skip_311841_LIHC_TCGA-DD-A1EG-01.png
exon_skip_312748_LIHC_TCGA-DD-A1EG-01.png
exon_skip_315763_LIHC_TCGA-DD-A1EG-01.png
exon_skip_315773_LIHC_TCGA-DD-A1EG-01.png
exon_skip_316803_LIHC_TCGA-DD-A1EG-01.png
exon_skip_31766_LIHC_TCGA-DD-A1EG-01.png
exon_skip_318224_LIHC_TCGA-DD-A1EG-01.png
exon_skip_318551_LIHC_TCGA-DD-A1EG-01.png
exon_skip_318554_LIHC_TCGA-DD-A1EG-01.png
exon_skip_318555_LIHC_TCGA-DD-A1EG-01.png
exon_skip_319623_LIHC_TCGA-DD-A1EG-01.png
exon_skip_319638_LIHC_TCGA-DD-A1EG-01.png
exon_skip_32002_LIHC_TCGA-DD-A1EG-01.png
exon_skip_320793_LIHC_TCGA-DD-A1EG-01.png
exon_skip_320801LIHC_TCGA-DD-A1EG-01.png
exon_skip_320805_LIHC_TCGA-DD-A1EG-01.png
exon_skip_320820_LIHC_TCGA-DD-A1EG-01.png
exon_skip_320893_LIHC_TCGA-DD-A1EG-01.png
exon_skip_323233_LIHC_TCGA-DD-A1EG-01.png
exon_skip_324148_LIHC_TCGA-DD-A1EG-01.png
exon_skip_325050_LIHC_TCGA-DD-A1EG-01.png
exon_skip_325907_LIHC_TCGA-DD-A1EG-01.png
exon_skip_325909_LIHC_TCGA-DD-A1EG-01.png
exon_skip_326432_LIHC_TCGA-DD-A1EG-01.png
exon_skip_329221_LIHC_TCGA-DD-A1EG-01.png
exon_skip_329666_LIHC_TCGA-DD-A1EG-01.png
exon_skip_330008_LIHC_TCGA-DD-A1EG-01.png
exon_skip_331787_LIHC_TCGA-DD-A1EG-01.png
exon_skip_33329_LIHC_TCGA-DD-A1EG-01.png
exon_skip_33532_LIHC_TCGA-DD-A1EG-01.png
exon_skip_335990_LIHC_TCGA-DD-A1EG-01.png
exon_skip_33963_LIHC_TCGA-DD-A1EG-01.png
exon_skip_340419_LIHC_TCGA-DD-A1EG-01.png
exon_skip_340619_LIHC_TCGA-DD-A1EG-01.png
exon_skip_34100_LIHC_TCGA-DD-A1EG-01.png
exon_skip_34102_LIHC_TCGA-DD-A1EG-01.png
exon_skip_343034_LIHC_TCGA-DD-A1EG-01.png
exon_skip_343146_LIHC_TCGA-DD-A1EG-01.png
exon_skip_344918_LIHC_TCGA-DD-A1EG-01.png
exon_skip_346537_LIHC_TCGA-DD-A1EG-01.png
exon_skip_346953_LIHC_TCGA-DD-A1EG-01.png
exon_skip_347402_LIHC_TCGA-DD-A1EG-01.png
exon_skip_348700_LIHC_TCGA-DD-A1EG-01.png
exon_skip_349878_LIHC_TCGA-DD-A1EG-01.png
exon_skip_350522_LIHC_TCGA-DD-A1EG-01.png
exon_skip_350768_LIHC_TCGA-DD-A1EG-01.png
exon_skip_350771_LIHC_TCGA-DD-A1EG-01.png
exon_skip_352623_LIHC_TCGA-DD-A1EG-01.png
exon_skip_352668_LIHC_TCGA-DD-A1EG-01.png
exon_skip_354857_LIHC_TCGA-DD-A1EG-01.png
exon_skip_356483_LIHC_TCGA-DD-A1EG-01.png
exon_skip_357567_LIHC_TCGA-DD-A1EG-01.png
exon_skip_357575_LIHC_TCGA-DD-A1EG-01.png
exon_skip_357579_LIHC_TCGA-DD-A1EG-01.png
exon_skip_358435_LIHC_TCGA-DD-A1EG-01.png
exon_skip_359435_LIHC_TCGA-DD-A1EG-01.png
exon_skip_359489_LIHC_TCGA-DD-A1EG-01.png
exon_skip_361242_LIHC_TCGA-DD-A1EG-01.png
exon_skip_363472_LIHC_TCGA-DD-A1EG-01.png
exon_skip_364099_LIHC_TCGA-DD-A1EG-01.png
exon_skip_364103_LIHC_TCGA-DD-A1EG-01.png
exon_skip_364697_LIHC_TCGA-DD-A1EG-01.png
exon_skip_364943_LIHC_TCGA-DD-A1EG-01.png
exon_skip_368204_LIHC_TCGA-DD-A1EG-01.png
exon_skip_371454_LIHC_TCGA-DD-A1EG-01.png
exon_skip_371456_LIHC_TCGA-DD-A1EG-01.png
exon_skip_373849_LIHC_TCGA-DD-A1EG-01.png
exon_skip_37497_LIHC_TCGA-DD-A1EG-01.png
exon_skip_375393_LIHC_TCGA-DD-A1EG-01.png
exon_skip_376191_LIHC_TCGA-DD-A1EG-01.png
exon_skip_376308_LIHC_TCGA-DD-A1EG-01.png
exon_skip_376316_LIHC_TCGA-DD-A1EG-01.png
exon_skip_377238_LIHC_TCGA-DD-A1EG-01.png
exon_skip_378935_LIHC_TCGA-DD-A1EG-01.png
exon_skip_379213_LIHC_TCGA-DD-A1EG-01.png
exon_skip_380574_LIHC_TCGA-DD-A1EG-01.png
exon_skip_380826_LIHC_TCGA-DD-A1EG-01.png
exon_skip_380829_LIHC_TCGA-DD-A1EG-01.png
exon_skip_381100_LIHC_TCGA-DD-A1EG-01.png
exon_skip_382085_LIHC_TCGA-DD-A1EG-01.png
exon_skip_382430_LIHC_TCGA-DD-A1EG-01.png
exon_skip_383797_LIHC_TCGA-DD-A1EG-01.png
exon_skip_384120_LIHC_TCGA-DD-A1EG-01.png
exon_skip_384513_LIHC_TCGA-DD-A1EG-01.png
exon_skip_384562_LIHC_TCGA-DD-A1EG-01.png
exon_skip_385178_LIHC_TCGA-DD-A1EG-01.png
exon_skip_385335_LIHC_TCGA-DD-A1EG-01.png
exon_skip_386274_LIHC_TCGA-DD-A1EG-01.png
exon_skip_386965_LIHC_TCGA-DD-A1EG-01.png
exon_skip_387419_LIHC_TCGA-DD-A1EG-01.png
exon_skip_38855_LIHC_TCGA-DD-A1EG-01.png
exon_skip_390081_LIHC_TCGA-DD-A1EG-01.png
exon_skip_3924_LIHC_TCGA-DD-A1EG-01.png
exon_skip_40143_LIHC_TCGA-DD-A1EG-01.png
exon_skip_421134_LIHC_TCGA-DD-A1EG-01.png
exon_skip_421552_LIHC_TCGA-DD-A1EG-01.png
exon_skip_422397_LIHC_TCGA-DD-A1EG-01.png
exon_skip_422548_LIHC_TCGA-DD-A1EG-01.png
exon_skip_423021_LIHC_TCGA-DD-A1EG-01.png
exon_skip_426236_LIHC_TCGA-DD-A1EG-01.png
exon_skip_426699_LIHC_TCGA-DD-A1EG-01.png
exon_skip_427391_LIHC_TCGA-DD-A1EG-01.png
exon_skip_427930_LIHC_TCGA-DD-A1EG-01.png
exon_skip_429469_LIHC_TCGA-DD-A1EG-01.png
exon_skip_430601_LIHC_TCGA-DD-A1EG-01.png
exon_skip_430604_LIHC_TCGA-DD-A1EG-01.png
exon_skip_430616_LIHC_TCGA-DD-A1EG-01.png
exon_skip_431557_LIHC_TCGA-DD-A1EG-01.png
exon_skip_433436_LIHC_TCGA-DD-A1EG-01.png
exon_skip_433459_LIHC_TCGA-DD-A1EG-01.png
exon_skip_434665_LIHC_TCGA-DD-A1EG-01.png
exon_skip_435300_LIHC_TCGA-DD-A1EG-01.png
exon_skip_435301_LIHC_TCGA-DD-A1EG-01.png
exon_skip_435931_LIHC_TCGA-DD-A1EG-01.png
exon_skip_436646_LIHC_TCGA-DD-A1EG-01.png
exon_skip_436987_LIHC_TCGA-DD-A1EG-01.png
exon_skip_438105_LIHC_TCGA-DD-A1EG-01.png
exon_skip_438770_LIHC_TCGA-DD-A1EG-01.png
exon_skip_43999_LIHC_TCGA-DD-A1EG-01.png
exon_skip_440168_LIHC_TCGA-DD-A1EG-01.png
exon_skip_440170_LIHC_TCGA-DD-A1EG-01.png
exon_skip_441705_LIHC_TCGA-DD-A1EG-01.png
exon_skip_443104_LIHC_TCGA-DD-A1EG-01.png
exon_skip_443977_LIHC_TCGA-DD-A1EG-01.png
exon_skip_443978_LIHC_TCGA-DD-A1EG-01.png
exon_skip_444190_LIHC_TCGA-DD-A1EG-01.png
exon_skip_444765_LIHC_TCGA-DD-A1EG-01.png
exon_skip_445559_LIHC_TCGA-DD-A1EG-01.png
exon_skip_446492_LIHC_TCGA-DD-A1EG-01.png
exon_skip_446495_LIHC_TCGA-DD-A1EG-01.png
exon_skip_449536_LIHC_TCGA-DD-A1EG-01.png
exon_skip_449592_LIHC_TCGA-DD-A1EG-01.png
exon_skip_4499_LIHC_TCGA-DD-A1EG-01.png
exon_skip_450058_LIHC_TCGA-DD-A1EG-01.png
exon_skip_450540_LIHC_TCGA-DD-A1EG-01.png
exon_skip_451867_LIHC_TCGA-DD-A1EG-01.png
exon_skip_456736_LIHC_TCGA-DD-A1EG-01.png
exon_skip_457729_LIHC_TCGA-DD-A1EG-01.png
exon_skip_457730_LIHC_TCGA-DD-A1EG-01.png
exon_skip_457842_LIHC_TCGA-DD-A1EG-01.png
exon_skip_459148_LIHC_TCGA-DD-A1EG-01.png
exon_skip_462138_LIHC_TCGA-DD-A1EG-01.png
exon_skip_466984_LIHC_TCGA-DD-A1EG-01.png
exon_skip_467199_LIHC_TCGA-DD-A1EG-01.png
exon_skip_467371_LIHC_TCGA-DD-A1EG-01.png
exon_skip_467372_LIHC_TCGA-DD-A1EG-01.png
exon_skip_46817_LIHC_TCGA-DD-A1EG-01.png
exon_skip_471387_LIHC_TCGA-DD-A1EG-01.png
exon_skip_471458_LIHC_TCGA-DD-A1EG-01.png
exon_skip_472013_LIHC_TCGA-DD-A1EG-01.png
exon_skip_472955_LIHC_TCGA-DD-A1EG-01.png
exon_skip_473416_LIHC_TCGA-DD-A1EG-01.png
exon_skip_475734_LIHC_TCGA-DD-A1EG-01.png
exon_skip_476238_LIHC_TCGA-DD-A1EG-01.png
exon_skip_476392_LIHC_TCGA-DD-A1EG-01.png
exon_skip_476535_LIHC_TCGA-DD-A1EG-01.png
exon_skip_478361_LIHC_TCGA-DD-A1EG-01.png
exon_skip_47845_LIHC_TCGA-DD-A1EG-01.png
exon_skip_483792_LIHC_TCGA-DD-A1EG-01.png
exon_skip_483806_LIHC_TCGA-DD-A1EG-01.png
exon_skip_484511_LIHC_TCGA-DD-A1EG-01.png
exon_skip_486903_LIHC_TCGA-DD-A1EG-01.png
exon_skip_486908_LIHC_TCGA-DD-A1EG-01.png
exon_skip_487634_LIHC_TCGA-DD-A1EG-01.png
exon_skip_48914_LIHC_TCGA-DD-A1EG-01.png
exon_skip_489575_LIHC_TCGA-DD-A1EG-01.png
exon_skip_489706_LIHC_TCGA-DD-A1EG-01.png
exon_skip_490514_LIHC_TCGA-DD-A1EG-01.png
exon_skip_492073_LIHC_TCGA-DD-A1EG-01.png
exon_skip_494000_LIHC_TCGA-DD-A1EG-01.png
exon_skip_495598_LIHC_TCGA-DD-A1EG-01.png
exon_skip_495600_LIHC_TCGA-DD-A1EG-01.png
exon_skip_497719_LIHC_TCGA-DD-A1EG-01.png
exon_skip_498628_LIHC_TCGA-DD-A1EG-01.png
exon_skip_498631_LIHC_TCGA-DD-A1EG-01.png
exon_skip_499018_LIHC_TCGA-DD-A1EG-01.png
exon_skip_501551_LIHC_TCGA-DD-A1EG-01.png
exon_skip_503330_LIHC_TCGA-DD-A1EG-01.png
exon_skip_503777_LIHC_TCGA-DD-A1EG-01.png
exon_skip_504288_LIHC_TCGA-DD-A1EG-01.png
exon_skip_5044_LIHC_TCGA-DD-A1EG-01.png
exon_skip_506320_LIHC_TCGA-DD-A1EG-01.png
exon_skip_507513_LIHC_TCGA-DD-A1EG-01.png
exon_skip_508970_LIHC_TCGA-DD-A1EG-01.png
exon_skip_510119_LIHC_TCGA-DD-A1EG-01.png
exon_skip_512244_LIHC_TCGA-DD-A1EG-01.png
exon_skip_512530_LIHC_TCGA-DD-A1EG-01.png
exon_skip_513207_LIHC_TCGA-DD-A1EG-01.png
exon_skip_513240_LIHC_TCGA-DD-A1EG-01.png
exon_skip_514990_LIHC_TCGA-DD-A1EG-01.png
exon_skip_516934_LIHC_TCGA-DD-A1EG-01.png
exon_skip_517296_LIHC_TCGA-DD-A1EG-01.png
exon_skip_517308_LIHC_TCGA-DD-A1EG-01.png
exon_skip_52417_LIHC_TCGA-DD-A1EG-01.png
exon_skip_54123_LIHC_TCGA-DD-A1EG-01.png
exon_skip_54476_LIHC_TCGA-DD-A1EG-01.png
exon_skip_56470_LIHC_TCGA-DD-A1EG-01.png
exon_skip_57633_LIHC_TCGA-DD-A1EG-01.png
exon_skip_57892_LIHC_TCGA-DD-A1EG-01.png
exon_skip_57897_LIHC_TCGA-DD-A1EG-01.png
exon_skip_58035_LIHC_TCGA-DD-A1EG-01.png
exon_skip_5818_LIHC_TCGA-DD-A1EG-01.png
exon_skip_58444_LIHC_TCGA-DD-A1EG-01.png
exon_skip_58894_LIHC_TCGA-DD-A1EG-01.png
exon_skip_59424_LIHC_TCGA-DD-A1EG-01.png
exon_skip_59476_LIHC_TCGA-DD-A1EG-01.png
exon_skip_59654_LIHC_TCGA-DD-A1EG-01.png
exon_skip_60187_LIHC_TCGA-DD-A1EG-01.png
exon_skip_60189_LIHC_TCGA-DD-A1EG-01.png
exon_skip_62322_LIHC_TCGA-DD-A1EG-01.png
exon_skip_63747_LIHC_TCGA-DD-A1EG-01.png
exon_skip_66185_LIHC_TCGA-DD-A1EG-01.png
exon_skip_66376_LIHC_TCGA-DD-A1EG-01.png
exon_skip_66813_LIHC_TCGA-DD-A1EG-01.png
exon_skip_67402_LIHC_TCGA-DD-A1EG-01.png
exon_skip_67594_LIHC_TCGA-DD-A1EG-01.png
exon_skip_67918_LIHC_TCGA-DD-A1EG-01.png
exon_skip_68288_LIHC_TCGA-DD-A1EG-01.png
exon_skip_68407_LIHC_TCGA-DD-A1EG-01.png
exon_skip_68411_LIHC_TCGA-DD-A1EG-01.png
exon_skip_68522_LIHC_TCGA-DD-A1EG-01.png
exon_skip_68768_LIHC_TCGA-DD-A1EG-01.png
exon_skip_69056_LIHC_TCGA-DD-A1EG-01.png
exon_skip_70050_LIHC_TCGA-DD-A1EG-01.png
exon_skip_71400_LIHC_TCGA-DD-A1EG-01.png
exon_skip_77097_LIHC_TCGA-DD-A1EG-01.png
exon_skip_79815_LIHC_TCGA-DD-A1EG-01.png
exon_skip_81531_LIHC_TCGA-DD-A1EG-01.png
exon_skip_81532_LIHC_TCGA-DD-A1EG-01.png
exon_skip_822_LIHC_TCGA-DD-A1EG-01.png
exon_skip_82890_LIHC_TCGA-DD-A1EG-01.png
exon_skip_84090_LIHC_TCGA-DD-A1EG-01.png
exon_skip_86135_LIHC_TCGA-DD-A1EG-01.png
exon_skip_87721_LIHC_TCGA-DD-A1EG-01.png
exon_skip_87_LIHC_TCGA-DD-A1EG-01.png
exon_skip_93888_LIHC_TCGA-DD-A1EG-01.png
exon_skip_93891_LIHC_TCGA-DD-A1EG-01.png
exon_skip_94866_LIHC_TCGA-DD-A1EG-01.png
exon_skip_96939_LIHC_TCGA-DD-A1EG-01.png
exon_skip_9694_LIHC_TCGA-DD-A1EG-01.png
exon_skip_97667_LIHC_TCGA-DD-A1EG-01.png
exon_skip_98055_LIHC_TCGA-DD-A1EG-01.png
exon_skip_98056_LIHC_TCGA-DD-A1EG-01.png
exon_skip_99140_LIHC_TCGA-DD-A1EG-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
CTV1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	979203	979403	979255	979256	Frame_Shift_Del	GT	-	p.C618fs
CCK81_LARGE_INTESTINE	979203	979403	979279	979279	Frame_Shift_Del	C	-	p.H625fs
SNUC2A_LARGE_INTESTINE	984946	985175	984981	984981	Frame_Shift_Del	G	-	p.R1517fs
22RV1_PROSTATE	984946	985175	985039	985039	Frame_Shift_Del	G	-	p.P1536fs
MOLT4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	979203	979403	979227	979228	Frame_Shift_Ins	-	T	p.AF608fs
YT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	977336	977542	977372	977372	Missense_Mutation	G	A	p.C405Y
HCC1599_BREAST	977336	977542	977407	977407	Missense_Mutation	G	A	p.D417N
HCC1599_MATCHED_NORMAL_TISSUE	977336	977542	977407	977407	Missense_Mutation	G	A	p.D417N
SNU1_STOMACH	977336	977542	977435	977435	Missense_Mutation	G	A	p.R426K
TM31_CENTRAL_NERVOUS_SYSTEM	977336	977542	977474	977474	Missense_Mutation	A	G	p.D439G
CCK81_LARGE_INTESTINE	978918	979112	978944	978944	Missense_Mutation	G	T	p.A544S
MCC13_SKIN	978918	979112	979037	979037	Missense_Mutation	C	T	p.P575S
ISHIKAWAHERAKLIO02ER_ENDOMETRIUM	978918	979112	979086	979086	Missense_Mutation	T	C	p.L591P
NCIH810_LUNG	979203	979403	979251	979251	Missense_Mutation	G	T	p.G616V
NCIH810_LUNG	979203	979403	979251	979252	Missense_Mutation	GG	TT	p.G616V
RL952_ENDOMETRIUM	979203	979403	979299	979299	Missense_Mutation	G	A	p.C632Y
UACC62_SKIN	979203	979403	979308	979308	Missense_Mutation	A	G	p.D635G
SNU1079_BILIARY_TRACT	980541	980657	980556	980556	Missense_Mutation	C	G	p.P757R
RCHACV_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	980541	980657	980567	980567	Missense_Mutation	G	A	p.V761M
MDAMB415_BREAST	981344	981468	981406	981406	Missense_Mutation	G	A	p.E915K
CCK81_LARGE_INTESTINE	981344	981468	981415	981415	Missense_Mutation	T	G	p.S918A
NCCIT_TESTIS	981344	981468	981433	981433	Missense_Mutation	C	T	p.P924S
NCIH630_LARGE_INTESTINE	981344	981468	981434	981434	Missense_Mutation	C	T	p.P924L
MOLM13_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	981344	981468	981437	981437	Missense_Mutation	T	C	p.M925T
HEC59_ENDOMETRIUM	981540	981645	981594	981594	Missense_Mutation	G	A	p.A954T
OPM2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	981540	981645	981612	981612	Missense_Mutation	C	A	p.Q960K
OPM1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	981540	981645	981612	981612	Missense_Mutation	C	A	p.Q960K
JHUEM1_ENDOMETRIUM	984946	985175	984956	984956	Missense_Mutation	C	T	p.R1509W
NCIH1436_LUNG	984946	985175	984964	984964	Missense_Mutation	C	A	p.F1511L
SCC15_UPPER_AERODIGESTIVE_TRACT	984946	985175	984968	984968	Missense_Mutation	G	C	p.G1513R
WM983B_SKIN	984946	985175	985037	985037	Missense_Mutation	C	T	p.P1536S
ONS76_CENTRAL_NERVOUS_SYSTEM	984946	985175	985050	985050	Missense_Mutation	C	G	p.T1540S
TF1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	984946	985175	985064	985064	Missense_Mutation	G	A	p.V1545M
HEC108_ENDOMETRIUM	984946	985175	985163	985163	Missense_Mutation	C	G	p.P1578A
OE19_OESOPHAGUS	986833	987025	986849	986849	Missense_Mutation	G	A	p.R1796H
NCIH23_LUNG	986833	987025	986872	986872	Missense_Mutation	G	C	p.V1804L
COLO668_LUNG	986833	987025	986878	986878	Missense_Mutation	C	T	p.R1806W
SNU1040_LARGE_INTESTINE	986833	987025	986878	986878	Missense_Mutation	C	T	p.R1806W
SN12C_KIDNEY	986833	987025	986883	986883	Missense_Mutation	G	T	p.Q1807H
DOV13_OVARY	986833	987025	986914	986914	Missense_Mutation	T	A	p.C1818S
NHAHTDD_CENTRAL_NERVOUS_SYSTEM	989133	989357	989234	989234	Missense_Mutation	A	G	p.Y1918C
EN_ENDOMETRIUM	989133	989357	989263	989263	Missense_Mutation	C	A	p.L1928M
RL952_ENDOMETRIUM	989133	989357	989270	989270	Missense_Mutation	T	A	p.L1930Q
IM95_STOMACH	989133	989357	989282	989282	Missense_Mutation	T	C	p.L1934P
JURKAT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	989133	989357	989294	989294	Missense_Mutation	C	T	p.P1938L
KARPAS45_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	989133	989357	989296	989296	Missense_Mutation	G	A	p.V1939M
JHUEM1_ENDOMETRIUM	989133	989357	989306	989306	Missense_Mutation	G	A	p.R1942H
SKNSH_AUTONOMIC_GANGLIA	989133	989357	989314	989314	Missense_Mutation	G	A	p.V1945M
BEN_LUNG	981344	981468	981406	981406	Nonsense_Mutation	G	T	p.E915*
NCIH1703_LUNG	989133	989357	989146	989146	Nonsense_Mutation	C	T	p.Q1889*

Top

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

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 AGRN

Top

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

Top

RelatedDrugs for AGRN

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 AGRN

Diseases associated with this gene.
(DisGeNet 4.0)

Gene	Disease ID	Disease name	# pubmeds	Source
AGRN	C3808739	MYASTHENIC SYNDROME, CONGENITAL, 8	3	UNIPROT
AGRN	C0023467	Leukemia, Myelocytic, Acute	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

Gene summary for AGRN

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

Gene isoform structures and expression levels for AGRN

Exon skipping events with PSIs in TCGA for AGRN

Exon skipping events with PSIs in GTEx for AGRN

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

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

SNVs in the skipped exons for AGRN

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

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

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

RelatedDrugs for AGRN

RelatedDiseases for AGRN