ExonSkipDB: functional annotation of exon skipping event in human

Gene summary for ASPSCR1

Gene summary

Gene information	Gene symbol	ASPSCR1
	Gene ID	79058
	Gene name	ASPSCR1, UBX domain containing tether for SLC2A4
	Synonyms	ASPCR1\|ASPL\|ASPS\|RCC17\|TUG\|UBXD9\|UBXN9
	Cytomap	17q25.3
	Type of gene	protein-coding
	Description	tether containing UBX domain for GLUT4UBX domain protein 9UBX domain-containing protein 9alveolar soft part sarcoma chromosomal region candidate gene 1 proteinalveolar soft part sarcoma chromosome region, candidate 1alveolar soft part sarcoma locusr
	Modification date	20180519
	UniProtAcc	Q9BZE9
	Context	PubMed: ASPSCR1 [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 ASPSCR1 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 ASPSCR1

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 ASPSCR1

Information of exkip skipping event in TCGA.

Exon skip ID	chr	Exons involved in exon skipping	Skipped exon	ENSG	ENSTs
exon_skip_284511	17	79935580:79935624:79937059:79937115:79941429:79941502	79937059:79937115	ENSG00000169696.11	ENST00000583503.1,ENST00000306729.7,ENST00000581647.1,ENST00000579684.1,ENST00000306739.4
exon_skip_284517	17	79937059:79937115:79940489:79940552:79941429:79941502	79940489:79940552	ENSG00000169696.11	ENST00000344865.6
exon_skip_284521	17	79943382:79943483:79952696:79952754:79953867:79953941	79952696:79952754	ENSG00000169696.11	ENST00000344865.6,ENST00000306729.7,ENST00000584454.1,ENST00000580534.1,ENST00000581484.1,ENST00000306739.4
exon_skip_284527	17	79953867:79953941:79954295:79954722:79966912:79966915	79954295:79954722	ENSG00000169696.11	ENST00000344865.6,ENST00000582355.2,ENST00000306729.7,ENST00000584454.1,ENST00000580534.1,ENST00000306739.4
exon_skip_284535	17	79967361:79967443:79967807:79967928:79968677:79968701	79967807:79967928	ENSG00000169696.11	ENST00000584454.1
exon_skip_284539	17	79967361:79967443:79968677:79968744:79969418:79969481	79968677:79968744	ENSG00000169696.11	ENST00000582355.2,ENST00000577733.1,ENST00000306729.7,ENST00000581608.1,ENST00000580534.1,ENST00000306739.4,ENST00000578236.1,ENST00000585274.1
exon_skip_284540	17	79967807:79967928:79968677:79968744:79969418:79969481	79968677:79968744	ENSG00000169696.11	ENST00000584454.1
exon_skip_284543	17	79969418:79969481:79970031:79970159:79974351:79974403	79970031:79970159	ENSG00000169696.11	ENST00000580534.1
exon_skip_284544	17	79969418:79969481:79970106:79970159:79974351:79974403	79970106:79970159	ENSG00000169696.11	ENST00000582355.2,ENST00000583744.1,ENST00000577733.1,ENST00000581608.1,ENST00000584454.1,ENST00000306739.4,ENST00000578236.1,ENST00000585274.1
exon_skip_284550	17	79970106:79970159:79972950:79973232:79974351:79974403	79972950:79973232	ENSG00000169696.11	ENST00000306729.7
exon_skip_284551	17	79970106:79970159:79974351:79974403:79974675:79974745	79974351:79974403	ENSG00000169696.11	ENST00000582355.2,ENST00000583744.1,ENST00000577733.1,ENST00000581608.1,ENST00000584454.1,ENST00000580534.1,ENST00000578361.1,ENST00000306739.4,ENST00000578236.1
exon_skip_284564	17	79974351:79974403:79974675:79974745:79974816:79974913	79974675:79974745	ENSG00000169696.11	ENST00000582355.2,ENST00000583744.1,ENST00000577733.1,ENST00000306729.7,ENST00000581608.1,ENST00000584454.1,ENST00000583142.1,ENST00000585140.1,ENST00000580534.1,ENST00000578361.1,ENST00000306739.4,ENST00000582404.1

PSI values of skipped exons in TCGA.

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Exon skipping events with PSIs in GTEx for ASPSCR1

Information of exkip skipping event in GTEx

Exon skip ID	chr	Exons involved in exon skipping	Skipped exon	ENSG	ENSTs
exon_skip_284511	17	79935580:79935624:79937059:79937115:79941429:79941502	79937059:79937115	ENSG00000169696.11	ENST00000306729.7,ENST00000306739.4,ENST00000581647.1,ENST00000583503.1,ENST00000579684.1
exon_skip_284517	17	79937059:79937115:79940489:79940552:79941429:79941502	79940489:79940552	ENSG00000169696.11	ENST00000344865.6
exon_skip_284521	17	79943382:79943483:79952696:79952754:79953867:79953941	79952696:79952754	ENSG00000169696.11	ENST00000581484.1,ENST00000306729.7,ENST00000306739.4,ENST00000344865.6,ENST00000580534.1,ENST00000584454.1
exon_skip_284527	17	79953867:79953941:79954295:79954722:79966912:79966915	79954295:79954722	ENSG00000169696.11	ENST00000306729.7,ENST00000306739.4,ENST00000344865.6,ENST00000580534.1,ENST00000584454.1,ENST00000582355.2
exon_skip_284535	17	79967361:79967443:79967807:79967928:79968677:79968701	79967807:79967928	ENSG00000169696.11	ENST00000584454.1
exon_skip_284539	17	79967361:79967443:79968677:79968744:79969418:79969481	79968677:79968744	ENSG00000169696.11	ENST00000306729.7,ENST00000306739.4,ENST00000580534.1,ENST00000582355.2,ENST00000577733.1,ENST00000578236.1,ENST00000581608.1,ENST00000585274.1
exon_skip_284540	17	79967807:79967928:79968677:79968744:79969418:79969481	79968677:79968744	ENSG00000169696.11	ENST00000584454.1
exon_skip_284543	17	79969418:79969481:79970031:79970159:79974351:79974403	79970031:79970159	ENSG00000169696.11	ENST00000580534.1
exon_skip_284544	17	79969418:79969481:79970106:79970159:79974351:79974403	79970106:79970159	ENSG00000169696.11	ENST00000306739.4,ENST00000584454.1,ENST00000582355.2,ENST00000577733.1,ENST00000578236.1,ENST00000581608.1,ENST00000585274.1,ENST00000583744.1
exon_skip_284550	17	79970106:79970159:79972950:79973232:79974351:79974403	79972950:79973232	ENSG00000169696.11	ENST00000306729.7
exon_skip_284551	17	79970106:79970159:79974351:79974403:79974675:79974745	79974351:79974403	ENSG00000169696.11	ENST00000306739.4,ENST00000580534.1,ENST00000584454.1,ENST00000582355.2,ENST00000577733.1,ENST00000578236.1,ENST00000581608.1,ENST00000583744.1,ENST00000578361.1
exon_skip_284564	17	79974351:79974403:79974675:79974745:79974816:79974913	79974675:79974745	ENSG00000169696.11	ENST00000306729.7,ENST00000306739.4,ENST00000580534.1,ENST00000584454.1,ENST00000582355.2,ENST00000577733.1,ENST00000581608.1,ENST00000583744.1,ENST00000578361.1,ENST00000583142.1,ENST00000582404.1,ENST00000585140.1

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 ASPSCR1

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
ENST00000306739	79937059	79937115	Frame-shift
ENST00000306739	79952696	79952754	Frame-shift
ENST00000306739	79954295	79954722	Frame-shift
ENST00000306739	79968677	79968744	Frame-shift
ENST00000306739	79970106	79970159	Frame-shift
ENST00000306739	79974351	79974403	Frame-shift
ENST00000306739	79974675	79974745	Frame-shift

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
ENST00000306739	79937059	79937115	Frame-shift
ENST00000306739	79952696	79952754	Frame-shift
ENST00000306739	79954295	79954722	Frame-shift
ENST00000306739	79968677	79968744	Frame-shift
ENST00000306739	79970106	79970159	Frame-shift
ENST00000306739	79974351	79974403	Frame-shift
ENST00000306739	79974675	79974745	Frame-shift

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Infer the effects of exon skipping event on protein functional features for ASPSCR1

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

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SNVs in the skipped exons for ASPSCR1

- 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.

ASPSCR1_KIRC_exon_skip_284550_psi_boxplot.png
boxplot

ASPSCR1_LIHC_exon_skip_284527_psi_boxplot.png
boxplot

ASPSCR1_STAD_exon_skip_284527_psi_boxplot.png
boxplot

ASPSCR1_STAD_exon_skip_284550_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-A1EG-01	exon_skip_284521	79952697	79952754	79952719	79952719	Frame_Shift_Del	G	-	p.G133fs
LIHC	TCGA-DD-A3A0-01	exon_skip_284521	79952697	79952754	79952719	79952719	Frame_Shift_Del	G	-	p.G133fs
LIHC	TCGA-DD-A1EG-01	exon_skip_284527	79954296	79954722	79954493	79954493	Frame_Shift_Del	G	-	p.R235fs
LIHC	TCGA-DD-A3A0-01	exon_skip_284527	79954296	79954722	79954544	79954544	Frame_Shift_Del	T	-	p.L252fs
STAD	TCGA-CG-4305-01	exon_skip_284527	79954296	79954722	79954544	79954544	Frame_Shift_Del	T	-	p.L252fs
LIHC	TCGA-DD-A39Y-01	exon_skip_284527	79954296	79954722	79954545	79954545	Frame_Shift_Del	G	-	p.L252fs
STAD	TCGA-CD-A4MG-01	exon_skip_284527	79954296	79954722	79954545	79954545	Frame_Shift_Del	G	-	p.L252fs
LIHC	TCGA-G3-A3CJ-01	exon_skip_284527	79954296	79954722	79954558	79954558	Frame_Shift_Del	G	-	p.G257fs
LIHC	TCGA-DD-A3A0-01	exon_skip_284539 exon_skip_284540	79968678	79968744	79968698	79968698	Frame_Shift_Del	C	-	p.F397fs
STAD	TCGA-CG-5721-01	exon_skip_284550	79972951	79973232	79973078	79973078	Frame_Shift_Del	T	-	p.L494fs
LIHC	TCGA-DD-A39Y-01	exon_skip_284564	79974676	79974745	79974690	79974690	Frame_Shift_Del	C	-	p.P568fs
LIHC	TCGA-CC-5258-01	exon_skip_284527	79954296	79954722	79954362	79954363	Frame_Shift_Ins	-	G	p.A191fs
LIHC	TCGA-BC-A112-01	exon_skip_284527	79954296	79954722	79954530	79954531	Frame_Shift_Ins	-	G	p.GG247fs
KIRC	TCGA-A3-3317-01	exon_skip_284550	79972951	79973232	79973083	79973084	Frame_Shift_Ins	-	G	p.G496fs
BLCA	TCGA-4Z-AA7Y-01	exon_skip_284543	79970032	79970159	79970157	79970157	Nonsense_Mutation	C	T	p.Q451*
BLCA	TCGA-4Z-AA7Y-01	exon_skip_284544	79970107	79970159	79970157	79970157	Nonsense_Mutation	C	T	p.Q451*
THYM	TCGA-ZB-A96C-01	exon_skip_284564	79974676	79974745	79974702	79974702	Nonsense_Mutation	G	T	p.E572X
SKCM	TCGA-ER-A194-01	exon_skip_284564	79974676	79974745	79974675	79974675	Splice_Site	G	A	.

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

Depth of coverage in three exons	Mutation description
	Sample: TCGA-A3-3317-01
	Cancer type: KIRC
	ESID: exon_skip_284550
	Skipped exon start: 79972951
	Skipped exon end: 79973232
	Mutation start: 79973083
	Mutation end: 79973084
	Mutation type: Frame_Shift_Ins
	Reference seq: -
	Mutation seq: G
	AAchange: p.G496fs
exon_skip_133038_KIRC_TCGA-A3-3317-01.png
exon_skip_284550_KIRC_TCGA-A3-3317-01.png
	Sample: TCGA-CG-5721-01
	Cancer type: STAD
	ESID: exon_skip_284550
	Skipped exon start: 79972951
	Skipped exon end: 79973232
	Mutation start: 79973078
	Mutation end: 79973078
	Mutation type: Frame_Shift_Del
	Reference seq: T
	Mutation seq: -
	AAchange: p.L494fs
exon_skip_107493_STAD_TCGA-CG-5721-01.png
exon_skip_107867_STAD_TCGA-CG-5721-01.png
exon_skip_123973_STAD_TCGA-CG-5721-01.png
exon_skip_124728_STAD_TCGA-CG-5721-01.png
exon_skip_20583_STAD_TCGA-CG-5721-01.png
exon_skip_284550_STAD_TCGA-CG-5721-01.png
exon_skip_287086_STAD_TCGA-CG-5721-01.png
exon_skip_287092_STAD_TCGA-CG-5721-01.png
exon_skip_328008_STAD_TCGA-CG-5721-01.png
exon_skip_347989_STAD_TCGA-CG-5721-01.png
exon_skip_360357_STAD_TCGA-CG-5721-01.png
exon_skip_360359_STAD_TCGA-CG-5721-01.png
exon_skip_361242_STAD_TCGA-CG-5721-01.png
exon_skip_363554_STAD_TCGA-CG-5721-01.png
exon_skip_370065_STAD_TCGA-CG-5721-01.png
exon_skip_377240_STAD_TCGA-CG-5721-01.png
exon_skip_378735_STAD_TCGA-CG-5721-01.png
exon_skip_41850_STAD_TCGA-CG-5721-01.png
exon_skip_425098_STAD_TCGA-CG-5721-01.png
exon_skip_443908_STAD_TCGA-CG-5721-01.png
exon_skip_449553_STAD_TCGA-CG-5721-01.png
exon_skip_452918_STAD_TCGA-CG-5721-01.png
exon_skip_454809_STAD_TCGA-CG-5721-01.png
exon_skip_462689_STAD_TCGA-CG-5721-01.png
exon_skip_482821_STAD_TCGA-CG-5721-01.png
exon_skip_482822_STAD_TCGA-CG-5721-01.png
exon_skip_487878_STAD_TCGA-CG-5721-01.png
exon_skip_502793_STAD_TCGA-CG-5721-01.png
exon_skip_508189_STAD_TCGA-CG-5721-01.png
exon_skip_516607_STAD_TCGA-CG-5721-01.png
exon_skip_54935_STAD_TCGA-CG-5721-01.png
exon_skip_96977_STAD_TCGA-CG-5721-01.png
	Sample: TCGA-CC-5258-01
	Cancer type: LIHC
	ESID: exon_skip_284527
	Skipped exon start: 79954296
	Skipped exon end: 79954722
	Mutation start: 79954362
	Mutation end: 79954363
	Mutation type: Frame_Shift_Ins
	Reference seq: -
	Mutation seq: G
	AAchange: p.A191fs
exon_skip_284527_LIHC_TCGA-CC-5258-01.png
	Sample: TCGA-BC-A112-01
	Cancer type: LIHC
	ESID: exon_skip_284527
	Skipped exon start: 79954296
	Skipped exon end: 79954722
	Mutation start: 79954530
	Mutation end: 79954531
	Mutation type: Frame_Shift_Ins
	Reference seq: -
	Mutation seq: G
	AAchange: p.GG247fs
exon_skip_114200_LIHC_TCGA-BC-A112-01.png
exon_skip_131894_LIHC_TCGA-BC-A112-01.png
exon_skip_135820_LIHC_TCGA-BC-A112-01.png
exon_skip_138911_LIHC_TCGA-BC-A112-01.png
exon_skip_141587_LIHC_TCGA-BC-A112-01.png
exon_skip_142606_LIHC_TCGA-BC-A112-01.png
exon_skip_146695_LIHC_TCGA-BC-A112-01.png
exon_skip_146697_LIHC_TCGA-BC-A112-01.png
exon_skip_152962_LIHC_TCGA-BC-A112-01.png
exon_skip_155765_LIHC_TCGA-BC-A112-01.png
exon_skip_1757_LIHC_TCGA-BC-A112-01.png
exon_skip_1879_LIHC_TCGA-BC-A112-01.png
exon_skip_1881_LIHC_TCGA-BC-A112-01.png
exon_skip_266_LIHC_TCGA-BC-A112-01.png
exon_skip_284527_LIHC_TCGA-BC-A112-01.png
exon_skip_286998_LIHC_TCGA-BC-A112-01.png
exon_skip_293546_LIHC_TCGA-BC-A112-01.png
exon_skip_293549_LIHC_TCGA-BC-A112-01.png
exon_skip_306900_LIHC_TCGA-BC-A112-01.png
exon_skip_311841_LIHC_TCGA-BC-A112-01.png
exon_skip_325884_LIHC_TCGA-BC-A112-01.png
exon_skip_326432_LIHC_TCGA-BC-A112-01.png
exon_skip_32825_LIHC_TCGA-BC-A112-01.png
exon_skip_331787_LIHC_TCGA-BC-A112-01.png
exon_skip_337208_LIHC_TCGA-BC-A112-01.png
exon_skip_337747_LIHC_TCGA-BC-A112-01.png
exon_skip_339045_LIHC_TCGA-BC-A112-01.png
exon_skip_344031_LIHC_TCGA-BC-A112-01.png
exon_skip_35548_LIHC_TCGA-BC-A112-01.png
exon_skip_35556_LIHC_TCGA-BC-A112-01.png
exon_skip_359720_LIHC_TCGA-BC-A112-01.png
exon_skip_37056_LIHC_TCGA-BC-A112-01.png
exon_skip_37483_LIHC_TCGA-BC-A112-01.png
exon_skip_37491_LIHC_TCGA-BC-A112-01.png
exon_skip_375724_LIHC_TCGA-BC-A112-01.png
exon_skip_378789_LIHC_TCGA-BC-A112-01.png
exon_skip_386291_LIHC_TCGA-BC-A112-01.png
exon_skip_41850_LIHC_TCGA-BC-A112-01.png
exon_skip_435931_LIHC_TCGA-BC-A112-01.png
exon_skip_436296_LIHC_TCGA-BC-A112-01.png
exon_skip_438393_LIHC_TCGA-BC-A112-01.png
exon_skip_443977_LIHC_TCGA-BC-A112-01.png
exon_skip_444190_LIHC_TCGA-BC-A112-01.png
exon_skip_44538_LIHC_TCGA-BC-A112-01.png
exon_skip_449944_LIHC_TCGA-BC-A112-01.png
exon_skip_458520_LIHC_TCGA-BC-A112-01.png
exon_skip_460075_LIHC_TCGA-BC-A112-01.png
exon_skip_472635_LIHC_TCGA-BC-A112-01.png
exon_skip_489149_LIHC_TCGA-BC-A112-01.png
exon_skip_492152_LIHC_TCGA-BC-A112-01.png
exon_skip_49506_LIHC_TCGA-BC-A112-01.png
exon_skip_5044_LIHC_TCGA-BC-A112-01.png
exon_skip_512559_LIHC_TCGA-BC-A112-01.png
exon_skip_514460_LIHC_TCGA-BC-A112-01.png
exon_skip_514990_LIHC_TCGA-BC-A112-01.png
exon_skip_55171_LIHC_TCGA-BC-A112-01.png
exon_skip_55175_LIHC_TCGA-BC-A112-01.png
exon_skip_56847_LIHC_TCGA-BC-A112-01.png
exon_skip_57586_LIHC_TCGA-BC-A112-01.png
exon_skip_57892_LIHC_TCGA-BC-A112-01.png
exon_skip_58035_LIHC_TCGA-BC-A112-01.png
exon_skip_6399_LIHC_TCGA-BC-A112-01.png
exon_skip_77132_LIHC_TCGA-BC-A112-01.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
HCT116_LARGE_INTESTINE	79954296	79954722	79954508	79954508	Frame_Shift_Del	C	-	p.A240fs
HCC15_LUNG	79937060	79937115	79937082	79937082	Missense_Mutation	G	A	p.R42Q
HA7EBV_MATCHED_NORMAL_TISSUE	79954296	79954722	79954331	79954331	Missense_Mutation	C	G	p.T181S
HA7RCC_KIDNEY	79954296	79954722	79954331	79954331	Missense_Mutation	C	G	p.T181S
RCHACV_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	79954296	79954722	79954375	79954375	Missense_Mutation	G	A	p.A196T
SEKI_SKIN	79954296	79954722	79954414	79954414	Missense_Mutation	C	T	p.R209C
DG75_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	79954296	79954722	79954484	79954484	Missense_Mutation	A	G	p.Q232R
CP66EBV_MATCHED_NORMAL_TISSUE	79954296	79954722	79954489	79954489	Missense_Mutation	A	G	p.T234A
MFE319_ENDOMETRIUM	79954296	79954722	79954690	79954690	Missense_Mutation	C	T	p.R301W
INA6_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	79954296	79954722	79954696	79954696	Missense_Mutation	C	A	p.P303T
UBLC1_URINARY_TRACT	79954296	79954722	79954715	79954715	Missense_Mutation	G	A	p.R309Q
AMO1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	79968678	79968744	79968712	79968712	Missense_Mutation	T	C	p.V402A
BT483_BREAST	79974676	79974745	79974702	79974702	Missense_Mutation	G	A	p.E478K
KCL22_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	79974676	79974745	79974727	79974727	Missense_Mutation	C	T	p.A486V

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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for ASPSCR1

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 ASPSCR1

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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for ASPSCR1

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RelatedDrugs for ASPSCR1

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 ASPSCR1

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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Gene summary for ASPSCR1

Exon skipping events across known transcript of Ensembl for ASPSCR1 from UCSC genome browser

Gene isoform structures and expression levels for ASPSCR1

Exon skipping events with PSIs in TCGA for ASPSCR1

Exon skipping events with PSIs in GTEx for ASPSCR1

Open reading frame (ORF) annotation in the exon skipping event for ASPSCR1

Infer the effects of exon skipping event on protein functional features for ASPSCR1

SNVs in the skipped exons for ASPSCR1

Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for ASPSCR1

Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for ASPSCR1

Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for ASPSCR1

RelatedDrugs for ASPSCR1

RelatedDiseases for ASPSCR1