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Center for Computational Systems Medicine
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Gene summary

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Gene structures and expression levels

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Exon skipping events with PSIs in TCGA

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Exon skipping events with PSIs in GTEx

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

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Exon skipping events in the canonical protein sequence

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SNVs in the skipped exons with depth of coverage

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Splicing Quantitative Trait Loci (sQTLs) in the skipped exons

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Splicing Quantitative Trait Methylation (sQTM) in the skipped exon

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Related drugs with this gene

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Related diseases with this gene

Gene summary for ASTE1

check button Gene summary
Gene informationGene symbol

ASTE1

Gene ID

28990

Gene nameasteroid homolog 1
SynonymsHT001
Cytomap

3q22.1

Type of geneprotein-coding
Descriptionprotein asteroid homolog 1
Modification date20180519
UniProtAcc

Q2TB18

ContextPubMed: ASTE1 [Title/Abstract] AND exon [Title/Abstract] AND skip [Title/Abstract]
- Title (PMID)

check button Gene ontology of each this gene with evidence of Inferred from Direct Assay (IDA) from Entrez
GeneGO IDGO termPubMed ID

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Exon skipping events across known transcript of Ensembl for ASTE1 from UCSC genome browser

check buttonSkipped 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.
all structure

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Gene isoform structures and expression levels for ASTE1

check button Expression levels of gene isoforms across TCGA.
gencode gene structure

check button Expression levels of gene isoforms across GTEx.
gencode gene structure


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Exon skipping events with PSIs in TCGA for ASTE1

check button Information of exkip skipping event in TCGA.
Exon skip IDchrExons involved in exon skippingSkipped exonENSGENSTs
exon_skip_3882683130732825:130733231:130734025:130734100:130734987:130735183130734025:130734100ENSG00000034533.7ENST00000514044.1
exon_skip_3882693130735134:130735183:130735833:130735893:130737349:130737539130735833:130735893ENSG00000034533.7ENST00000507978.1
exon_skip_3882703130735134:130735183:130737349:130737560:130742848:130743082130737349:130737560ENSG00000034533.7ENST00000514044.1,ENST00000264992.3
exon_skip_3882713130737349:130737560:130742848:130743082:130744007:130744175130742848:130743082ENSG00000034533.7ENST00000504964.1
exon_skip_3882763130737349:130737560:130742848:130744175:130744317:130744383130742848:130744175ENSG00000034533.7ENST00000514044.1,ENST00000507978.1,ENST00000264992.3
exon_skip_3882803130744129:130744175:130744317:130744438:130745031:130745430130744317:130744438ENSG00000034533.7ENST00000509060.1
exon_skip_3882823130744129:130744175:130744317:130744438:130745350:130745646130744317:130744438ENSG00000034533.7ENST00000507978.1,ENST00000264992.3

check button PSI values of skipped exons in TCGA.
psi tcga

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Exon skipping events with PSIs in GTEx for ASTE1

check button Information of exkip skipping event in GTEx
Exon skip IDchrExons involved in exon skippingSkipped exonENSGENSTs
exon_skip_3882683130732825:130733231:130734025:130734100:130734987:130735183130734025:130734100ENSG00000034533.7ENST00000514044.1
exon_skip_3882693130735134:130735183:130735833:130735893:130737349:130737539130735833:130735893ENSG00000034533.7ENST00000507978.1
exon_skip_3882703130735134:130735183:130737349:130737560:130742848:130743082130737349:130737560ENSG00000034533.7ENST00000514044.1,ENST00000264992.3
exon_skip_3882713130737349:130737560:130742848:130743082:130744007:130744175130742848:130743082ENSG00000034533.7ENST00000504964.1
exon_skip_3882763130737349:130737560:130742848:130744175:130744317:130744383130742848:130744175ENSG00000034533.7ENST00000514044.1,ENST00000264992.3,ENST00000507978.1
exon_skip_3882803130744129:130744175:130744317:130744438:130745031:130745430130744317:130744438ENSG00000034533.7ENST00000509060.1
exon_skip_3882823130744129:130744175:130744317:130744438:130745350:130745646130744317:130744438ENSG00000034533.7ENST00000264992.3,ENST00000507978.1

check button PSI values of skipped exons in GTEx.
psi gtex

* Skipped exon sequences.

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Open reading frame (ORF) annotation in the exon skipping event for ASTE1

check button Open reading frame (ORF) of individual exon skipping events in TCGA based on the Ensembl gene structure combined from isoforms.
ENSTStart of skipped exonEnd of skipped exonORF
ENST000002649921307428481307441753UTR-3CDS
ENST000002649921307443171307444383UTR-3UTR
ENST00000264992130737349130737560Frame-shift

check button Open reading frame (ORF) of individual exon skipping events in GTEx based on the Ensembl gene structure combined from isoforms.
ENSTStart of skipped exonEnd of skipped exonORF
ENST000002649921307428481307441753UTR-3CDS
ENST000002649921307443171307444383UTR-3UTR
ENST00000264992130737349130737560Frame-shift

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Infer the effects of exon skipping event on protein functional features for ASTE1

check button Exon skipping at the protein sequence level and followed lost functional features.
* Click on the image to enlarge it in a new window.
prot feature distribution

check button Loci of skipped exons in TCGA across genomic, transcript, and protein sequence levels of In-frame cases.
ENSTLength of mRNALength of AA seq.Genomic startGenomic endmRNA startmRNA endAA startAA end

check button Loci of skipped exons in GTEx across genomic, transcript, and protein sequence levels of In-frame cases.
ENSTLength of mRNALength of AA seq.Genomic startGenomic endmRNA startmRNA endAA startAA end

check button 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 featureDescription of feature


check button 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 featureDescription of feature


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SNVs in the skipped exons for ASTE1

check button - Lollipop plot for presenting exon skipping associated SNVs.
* Click on the image to enlarge it in a new window.
lollipop

check button - Differential PSIs between mutated versus non-mutated samples.
ASTE1_BRCA_exon_skip_388276_psi_boxplot.png
boxplot
ASTE1_STAD_exon_skip_388276_psi_boxplot.png
boxplot

check button - Non-synonymous mutations located in the skipped exons in TCGA.
Cancer typeSampleESIDSkipped exon startSkipped exon endMutation startMutation endMutation typeReference seqMutation seqAAchange
LIHCTCGA-G3-A3CJ-01exon_skip_388271
130742849130743082130742919130742919Frame_Shift_DelT-p.N411fs
LIHCTCGA-G3-A3CJ-01exon_skip_388276
130742849130744175130742919130742919Frame_Shift_DelT-p.N411fs
COADTCGA-AA-A00J-01exon_skip_388276
130742849130744175130743222130743223Frame_Shift_DelAA-p.310_310del
LIHCTCGA-DD-A39Y-01exon_skip_388276
130742849130744175130743291130743291Frame_Shift_DelT-p.N287fs
KIRPTCGA-IZ-8195-01exon_skip_388276
130742849130744175130743293130743300Frame_Shift_DelTTCTCGAT-p.284_287del
STADTCGA-BR-4361-01exon_skip_388276
130742849130744175130743303130743303Frame_Shift_DelT-p.K283fs
STADTCGA-BR-8361-01exon_skip_388276
130742849130744175130743303130743303Frame_Shift_DelT-p.K283fs
UCSTCGA-N7-A4Y0-01exon_skip_388276
130742849130744175130743461130743461Frame_Shift_DelG-p.I231fs
UCSTCGA-N7-A4Y0-01exon_skip_388276
130742849130744175130743461130743461Frame_Shift_DelG-p.P230fs
BRCATCGA-EW-A1IZ-01exon_skip_388276
130742849130744175130743497130743498Frame_Shift_DelAA-p.F218fs
COADTCGA-AZ-6598-01exon_skip_388276
130742849130744175130743643130743643Frame_Shift_DelT-p.T170fs
LIHCTCGA-DD-A1EG-01exon_skip_388276
130742849130744175130743653130743653Frame_Shift_DelA-p.F166fs
LIHCTCGA-DD-A3A0-01exon_skip_388276
130742849130744175130743653130743653Frame_Shift_DelA-p.D167fs
LIHCTCGA-DD-A3A0-01exon_skip_388276
130742849130744175130743653130743653Frame_Shift_DelA-p.F166fs
LIHCTCGA-DD-A1EG-01exon_skip_388276
130742849130744175130743661130743661Frame_Shift_DelA-p.C164fs
LIHCTCGA-G3-A3CJ-01exon_skip_388276
130742849130744175130744044130744044Frame_Shift_DelA-p.F36fs
HNSCTCGA-CV-5435-01exon_skip_388276
130742849130744175130743569130743570Frame_Shift_Ins-Gp.P194fs
HNSCTCGA-CV-5435-01exon_skip_388276
130742849130744175130743569130743570Frame_Shift_Ins-Gp.R194fs
COADTCGA-D5-6930-01exon_skip_388276
130742849130744175130743085130743085Nonsense_MutationGAp.Q356X
READTCGA-AG-A002-01exon_skip_388276
130742849130744175130743298130743298Nonsense_MutationGAp.R285X
UCECTCGA-AX-A0J0-01exon_skip_388276
130742849130744175130743298130743298Nonsense_MutationGAp.R285*
UCECTCGA-D1-A167-01exon_skip_388276
130742849130744175130743388130743388Nonsense_MutationGAp.R255*
READTCGA-AG-A002-01exon_skip_388276
130742849130744175130743678130743678Nonsense_MutationGTp.S158X
UCECTCGA-AP-A0LM-01exon_skip_388270
130737350130737560130737348130737348Splice_SiteAGe2+2

check button - Depth of coverage in the three exons composing exon skipping event
Depth of coverage in three exonsMutation description
ASTE1_130737349_130737560_130742848_130744175_130744317_130744383_TCGA-BR-8361-01Sample: TCGA-BR-8361-01
Cancer type: STAD
ESID: exon_skip_388276
Skipped exon start: 130742849
Skipped exon end: 130744175
Mutation start: 130743303
Mutation end: 130743303
Mutation type: Frame_Shift_Del
Reference seq: T
Mutation seq: -
AAchange: p.K283fs
exon_skip_308974_STAD_TCGA-BR-8361-01.png
boxplot
exon_skip_346425_STAD_TCGA-BR-8361-01.png
boxplot
exon_skip_346426_STAD_TCGA-BR-8361-01.png
boxplot
exon_skip_35193_STAD_TCGA-BR-8361-01.png
boxplot
exon_skip_361242_STAD_TCGA-BR-8361-01.png
boxplot
exon_skip_379370_STAD_TCGA-BR-8361-01.png
boxplot
exon_skip_388276_STAD_TCGA-BR-8361-01.png
boxplot
exon_skip_421737_STAD_TCGA-BR-8361-01.png
boxplot
exon_skip_511069_STAD_TCGA-BR-8361-01.png
boxplot
exon_skip_517775_STAD_TCGA-BR-8361-01.png
boxplot
exon_skip_77254_STAD_TCGA-BR-8361-01.png
boxplot
exon_skip_77846_STAD_TCGA-BR-8361-01.png
boxplot
exon_skip_91288_STAD_TCGA-BR-8361-01.png
boxplot

check button - Non-synonymous mutations located in the skipped exons in CCLE.
SampleSkipped exon startSkipped exon endMutation startMutation endMutation typeReference seqMutation seqAAchange
ESO51_OESOPHAGUS130742849130744175130742919130742919Frame_Shift_DelT-p.N411fs
ESO51_OESOPHAGUS130742849130743082130742919130742919Frame_Shift_DelT-p.N411fs
RXF393_KIDNEY130742849130744175130743153130743153Frame_Shift_DelA-p.L333fs
AN3CA_ENDOMETRIUM130742849130744175130743303130743303Frame_Shift_DelT-p.K283fs
SNU1040_LARGE_INTESTINE130742849130744175130743303130743303Frame_Shift_DelT-p.K283fs
HS766T_PANCREAS130742849130744175130743302130743303Frame_Shift_Ins-Tp.K283fs
AN3CA_ENDOMETRIUM130742849130744175130744068130744069Frame_Shift_Ins-Tp.I28fs
UMCHOR1_BONE130737350130737560130737476130737476Missense_MutationTCp.K463E
MDAMB157_BREAST130737350130737560130737496130737496Missense_MutationTCp.E456G
KASUMI1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE130737350130737560130737497130737497Missense_MutationCGp.E456Q
TMK1_STOMACH130737350130737560130737497130737497Missense_MutationCGp.E456Q
KMS18_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE130737350130737560130737497130737497Missense_MutationCGp.E456Q
HT115_LARGE_INTESTINE130737350130737560130737545130737545Missense_MutationGAp.R440W
PLCPRF5_LIVER130742849130744175130743037130743037Missense_MutationTGp.I372L
PLCPRF5_LIVER130742849130743082130743037130743037Missense_MutationTGp.I372L
LN18_CENTRAL_NERVOUS_SYSTEM130742849130744175130743070130743070Missense_MutationGTp.Q361K
LN18_CENTRAL_NERVOUS_SYSTEM130742849130743082130743070130743070Missense_MutationGTp.Q361K
SKNFI_AUTONOMIC_GANGLIA130742849130744175130743082130743082Missense_MutationCTp.V357M
SKNFI_AUTONOMIC_GANGLIA130742849130743082130743082130743082Missense_MutationCTp.V357M
JK1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE130742849130744175130743103130743103Missense_MutationGAp.R350W
ONS76_CENTRAL_NERVOUS_SYSTEM130742849130744175130743157130743157Missense_MutationCTp.A332T
CCK81_LARGE_INTESTINE130742849130744175130743170130743170Missense_MutationTAp.E327D
K5_THYROID130742849130744175130743249130743249Missense_MutationTCp.Q301R
A704_KIDNEY130742849130744175130743270130743270Missense_MutationCGp.C294S
SNU1040_LARGE_INTESTINE130742849130744175130743310130743310Missense_MutationGTp.P281T
OVKATE_OVARY130742849130744175130743411130743411Missense_MutationCAp.S247I
CORL105_LUNG130742849130744175130743433130743433Missense_MutationGAp.R240C
ST486_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE130742849130744175130743433130743433Missense_MutationGAp.R240C
639V_URINARY_TRACT130742849130744175130743463130743463Missense_MutationGAp.P230S
MKN7_STOMACH130742849130744175130743619130743619Missense_MutationAGp.F178L
IOMMLEE_CENTRAL_NERVOUS_SYSTEM130742849130744175130743633130743633Missense_MutationCTp.C173Y
BT474_BREAST130742849130744175130743652130743652Missense_MutationCAp.D167Y
IGROV1_OVARY130742849130744175130743678130743678Missense_MutationGAp.S158L
TE1_OESOPHAGUS130742849130744175130743829130743829Missense_MutationCTp.V108I
EOL1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE130742849130744175130743894130743894Missense_MutationTAp.D86V
HCE4_OESOPHAGUS130742849130744175130743916130743916Missense_MutationCGp.D79H
UO31_KIDNEY130742849130744175130743933130743933Missense_MutationCTp.C73Y
HCC1171_LUNG130742849130744175130744039130744039Missense_MutationGAp.R38C
JHUEM7_ENDOMETRIUM130742849130744175130744100130744100Missense_MutationGTp.F17L
KATOIII_STOMACH130742849130744175130743695130743695Nonsense_MutationCTp.W152*
HEC59_ENDOMETRIUM130742849130744175130744141130744141Nonsense_MutationGAp.R4*
TE14_OESOPHAGUS130742849130744175130744141130744141Nonsense_MutationGAp.R4*

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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for ASTE1

check button sQTL information located at the skipped exons.
Exon skip IDChromosomeThree exonsSkippped exonENSTCancer typeSNP idLocationDNA change (ref/var)P-value
exon_skip_3882763130737349:130737560:130742848:130744175:130744317:130744383130742848:130744175ENST00000514044.1,ENST00000507978.1,ENST00000264992.3BRCArs35558913chr3:130743812G/A9.14e-06
exon_skip_3882763130737349:130737560:130742848:130744175:130744317:130744383130742848:130744175ENST00000514044.1,ENST00000507978.1,ENST00000264992.3LGGrs35558913chr3:130743812G/A2.39e-12
exon_skip_3882763130737349:130737560:130742848:130744175:130744317:130744383130742848:130744175ENST00000514044.1,ENST00000507978.1,ENST00000264992.3LGGrs35558913chr3:130743812G/A1.21e-03
exon_skip_3882763130737349:130737560:130742848:130744175:130744317:130744383130742848:130744175ENST00000514044.1,ENST00000507978.1,ENST00000264992.3KIRCrs35558913chr3:130743812G/A1.29e-04
exon_skip_3882763130737349:130737560:130742848:130744175:130744317:130744383130742848:130744175ENST00000514044.1,ENST00000507978.1,ENST00000264992.3LUADrs35558913chr3:130743812G/A1.54e-04
exon_skip_3882763130737349:130737560:130742848:130744175:130744317:130744383130742848:130744175ENST00000514044.1,ENST00000507978.1,ENST00000264992.3THYMrs35558913chr3:130743812G/A8.45e-06
exon_skip_3882763130737349:130737560:130742848:130744175:130744317:130744383130742848:130744175ENST00000514044.1,ENST00000507978.1,ENST00000264992.3STADrs35558913chr3:130743812G/A3.17e-05
exon_skip_3882763130737349:130737560:130742848:130744175:130744317:130744383130742848:130744175ENST00000514044.1,ENST00000507978.1,ENST00000264992.3THCArs35558913chr3:130743812G/A1.80e-04
exon_skip_3882823130744129:130744175:130744317:130744438:130745350:130745646130744317:130744438ENST00000507978.1,ENST00000264992.3BRCArs13066072chr3:130744384T/C7.16e-06
exon_skip_3882823130744129:130744175:130744317:130744438:130745350:130745646130744317:130744438ENST00000507978.1,ENST00000264992.3LGGrs13066072chr3:130744384T/C3.67e-12
exon_skip_3882823130744129:130744175:130744317:130744438:130745350:130745646130744317:130744438ENST00000507978.1,ENST00000264992.3LGGrs13066072chr3:130744384T/C1.27e-03
exon_skip_3882823130744129:130744175:130744317:130744438:130745350:130745646130744317:130744438ENST00000507978.1,ENST00000264992.3KIRCrs13066072chr3:130744384T/C1.39e-04
exon_skip_3882823130744129:130744175:130744317:130744438:130745350:130745646130744317:130744438ENST00000507978.1,ENST00000264992.3LUADrs13066072chr3:130744384T/C2.04e-04
exon_skip_3882823130744129:130744175:130744317:130744438:130745350:130745646130744317:130744438ENST00000507978.1,ENST00000264992.3THYMrs13066072chr3:130744384T/C8.45e-06
exon_skip_3882823130744129:130744175:130744317:130744438:130745350:130745646130744317:130744438ENST00000507978.1,ENST00000264992.3STADrs13066072chr3:130744384T/C3.17e-05
exon_skip_3882823130744129:130744175:130744317:130744438:130745350:130745646130744317:130744438ENST00000507978.1,ENST00000264992.3THCArs13066072chr3:130744384T/C1.98e-04
exon_skip_3882803130744129:130744175:130744317:130744438:130745031:130745430130744317:130744438ENST00000509060.1BRCArs13066072chr3:130744384T/C7.16e-06
exon_skip_3882803130744129:130744175:130744317:130744438:130745031:130745430130744317:130744438ENST00000509060.1LGGrs13066072chr3:130744384T/C3.67e-12
exon_skip_3882803130744129:130744175:130744317:130744438:130745031:130745430130744317:130744438ENST00000509060.1LGGrs13066072chr3:130744384T/C1.27e-03
exon_skip_3882803130744129:130744175:130744317:130744438:130745031:130745430130744317:130744438ENST00000509060.1KIRCrs13066072chr3:130744384T/C1.39e-04
exon_skip_3882803130744129:130744175:130744317:130744438:130745031:130745430130744317:130744438ENST00000509060.1LUADrs13066072chr3:130744384T/C2.04e-04
exon_skip_3882803130744129:130744175:130744317:130744438:130745031:130745430130744317:130744438ENST00000509060.1THYMrs13066072chr3:130744384T/C8.45e-06
exon_skip_3882803130744129:130744175:130744317:130744438:130745031:130745430130744317:130744438ENST00000509060.1STADrs13066072chr3:130744384T/C3.17e-05
exon_skip_3882803130744129:130744175:130744317:130744438:130745031:130745430130744317:130744438ENST00000509060.1THCArs13066072chr3:130744384T/C1.98e-04
exon_skip_3882683130732825:130733231:130734025:130734100:130734987:130735183130734025:130734100ENST00000514044.1BRCArs7641006chr3:130734061A/G1.85e-04
exon_skip_3882683130732825:130733231:130734025:130734100:130734987:130735183130734025:130734100ENST00000514044.1LGGrs7641006chr3:130734061A/G2.04e-11
exon_skip_3882683130732825:130733231:130734025:130734100:130734987:130735183130734025:130734100ENST00000514044.1KIRCrs7641006chr3:130734061A/G1.03e-04
exon_skip_3882683130732825:130733231:130734025:130734100:130734987:130735183130734025:130734100ENST00000514044.1LUADrs7641006chr3:130734061A/G8.65e-04
exon_skip_3882683130732825:130733231:130734025:130734100:130734987:130735183130734025:130734100ENST00000514044.1THYMrs7641006chr3:130734061A/G5.75e-05
exon_skip_3882683130732825:130733231:130734025:130734100:130734987:130735183130734025:130734100ENST00000514044.1STADrs7641006chr3:130734061A/G1.34e-03
exon_skip_3882683130732825:130733231:130734025:130734100:130734987:130735183130734025:130734100ENST00000514044.1THCArs7641006chr3:130734061A/G1.97e-04

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Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for ASTE1


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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for ASTE1


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RelatedDrugs for ASTE1

check button Approved drugs targeting this gene.
(DrugBank Version 5.1.0 2018-04-02)
GeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status

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RelatedDiseases for ASTE1

check button Diseases associated with this gene.
(DisGeNet 4.0)
GeneDisease IDDisease name# pubmedsSource