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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 RALGAPB

check button Gene summary
Gene informationGene symbol

RALGAPB

Gene ID

57148

Gene nameRal GTPase activating protein non-catalytic beta subunit
SynonymsKIAA1219|RalGAPbeta
Cytomap

20q11.23

Type of geneprotein-coding
Descriptionral GTPase-activating protein subunit betaRal GTPase activating protein, beta subunit (non-catalytic)
Modification date20180523
UniProtAcc

Q86X10

ContextPubMed: RALGAPB [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 RALGAPB 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 RALGAPB

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 RALGAPB

check button Information of exkip skipping event in TCGA.
Exon skip IDchrExons involved in exon skippingSkipped exonENSGENSTs
exon_skip_3517302037121572:37121775:37125995:37126159:37128089:3712827637125995:37126159ENSG00000170471.10ENST00000397038.1,ENST00000397040.1,ENST00000262879.6,ENST00000397042.3,ENST00000537204.1
exon_skip_3517392037126122:37126159:37128089:37128276:37137719:3713785137128089:37128276ENSG00000170471.10ENST00000438490.1,ENST00000397038.1,ENST00000397040.1,ENST00000262879.6,ENST00000397042.3,ENST00000537204.1
exon_skip_3517412037128089:37128276:37137719:37137851:37144834:3714501337137719:37137851ENSG00000170471.10ENST00000438490.1,ENST00000397038.1,ENST00000397040.1,ENST00000262879.6,ENST00000397042.3,ENST00000537204.1
exon_skip_3517422037137727:37137851:37144834:37145013:37146148:3714629737144834:37145013ENSG00000170471.10ENST00000438490.1,ENST00000397038.1,ENST00000397040.1,ENST00000262879.6,ENST00000397042.3,ENST00000537204.1,ENST00000461423.1
exon_skip_3517462037146426:37146643:37150139:37150341:37153420:3715348037150139:37150341ENSG00000170471.10ENST00000438490.1,ENST00000397038.1,ENST00000397040.1,ENST00000262879.6,ENST00000397042.3,ENST00000461423.1
exon_skip_3517482037161372:37161502:37163716:37163850:37168418:3716860137163716:37163850ENSG00000170471.10ENST00000438490.1,ENST00000397038.1,ENST00000397040.1,ENST00000262879.6,ENST00000461423.1
exon_skip_3517492037161372:37161502:37163728:37163850:37168418:3716860137163728:37163850ENSG00000170471.10ENST00000397042.3
exon_skip_3517532037169683:37169835:37174885:37175073:37177331:3717743837174885:37175073ENSG00000170471.10ENST00000438490.1,ENST00000397038.1,ENST00000397040.1,ENST00000262879.6,ENST00000397042.3
exon_skip_3517572037174885:37175073:37177331:37177438:37179713:3717986637177331:37177438ENSG00000170471.10ENST00000438490.1,ENST00000397038.1,ENST00000397040.1,ENST00000262879.6,ENST00000397042.3
exon_skip_3517582037179713:37179866:37182509:37182719:37186937:3718709637182509:37182719ENSG00000170471.10ENST00000438490.1,ENST00000397038.1,ENST00000397040.1,ENST00000262879.6,ENST00000397042.3
exon_skip_3517612037186937:37187096:37191174:37191340:37193998:3719412137191174:37191340ENSG00000170471.10ENST00000438490.1,ENST00000397038.1,ENST00000397042.3
exon_skip_3517662037191174:37191340:37193998:37194121:37195738:3719587537193998:37194121ENSG00000170471.10ENST00000438490.1,ENST00000397038.1,ENST00000397042.3
exon_skip_3517682037191174:37191340:37194001:37194121:37195738:3719587537194001:37194121ENSG00000170471.10ENST00000397040.1,ENST00000262879.6
exon_skip_3517752037195738:37195875:37198530:37198639:37199411:3719949037198530:37198639ENSG00000170471.10ENST00000438490.1,ENST00000397038.1,ENST00000397040.1,ENST00000262879.6,ENST00000397042.3
exon_skip_3517802037198530:37198639:37199411:37199490:37202792:3720294137199411:37199490ENSG00000170471.10ENST00000461147.1,ENST00000438490.1,ENST00000397038.1,ENST00000397040.1,ENST00000262879.6,ENST00000397042.3
exon_skip_3517812037199411:37199490:37202792:37202941:37203416:3720358337202792:37202941ENSG00000170471.10ENST00000461147.1,ENST00000438490.1,ENST00000397038.1,ENST00000397040.1,ENST00000262879.6,ENST00000397042.3

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

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Exon skipping events with PSIs in GTEx for RALGAPB

check button Information of exkip skipping event in GTEx
Exon skip IDchrExons involved in exon skippingSkipped exonENSGENSTs
exon_skip_3517302037121572:37121775:37125995:37126159:37128089:3712827637125995:37126159ENSG00000170471.10ENST00000262879.6,ENST00000397042.3,ENST00000397038.1,ENST00000537204.1,ENST00000397040.1
exon_skip_3517392037126122:37126159:37128089:37128276:37137719:3713785137128089:37128276ENSG00000170471.10ENST00000262879.6,ENST00000397042.3,ENST00000397038.1,ENST00000537204.1,ENST00000397040.1,ENST00000438490.1
exon_skip_3517412037128089:37128276:37137719:37137851:37144834:3714501337137719:37137851ENSG00000170471.10ENST00000262879.6,ENST00000397042.3,ENST00000397038.1,ENST00000537204.1,ENST00000397040.1,ENST00000438490.1
exon_skip_3517422037137727:37137851:37144834:37145013:37146148:3714629737144834:37145013ENSG00000170471.10ENST00000262879.6,ENST00000397042.3,ENST00000397038.1,ENST00000537204.1,ENST00000397040.1,ENST00000438490.1,ENST00000461423.1
exon_skip_3517462037146426:37146643:37150139:37150341:37153420:3715348037150139:37150341ENSG00000170471.10ENST00000262879.6,ENST00000397042.3,ENST00000397038.1,ENST00000397040.1,ENST00000438490.1,ENST00000461423.1
exon_skip_3517482037161372:37161502:37163716:37163850:37168418:3716860137163716:37163850ENSG00000170471.10ENST00000262879.6,ENST00000397038.1,ENST00000397040.1,ENST00000438490.1,ENST00000461423.1
exon_skip_3517492037161372:37161502:37163728:37163850:37168418:3716860137163728:37163850ENSG00000170471.10ENST00000397042.3
exon_skip_3517532037169683:37169835:37174885:37175073:37177331:3717743837174885:37175073ENSG00000170471.10ENST00000262879.6,ENST00000397042.3,ENST00000397038.1,ENST00000397040.1,ENST00000438490.1
exon_skip_3517572037174885:37175073:37177331:37177438:37179713:3717986637177331:37177438ENSG00000170471.10ENST00000262879.6,ENST00000397042.3,ENST00000397038.1,ENST00000397040.1,ENST00000438490.1
exon_skip_3517582037179713:37179866:37182509:37182719:37186937:3718709637182509:37182719ENSG00000170471.10ENST00000262879.6,ENST00000397042.3,ENST00000397038.1,ENST00000397040.1,ENST00000438490.1
exon_skip_3517612037186937:37187096:37191174:37191340:37193998:3719412137191174:37191340ENSG00000170471.10ENST00000397042.3,ENST00000397038.1,ENST00000438490.1
exon_skip_3517662037191174:37191340:37193998:37194121:37195738:3719587537193998:37194121ENSG00000170471.10ENST00000397042.3,ENST00000397038.1,ENST00000438490.1
exon_skip_3517682037191174:37191340:37194001:37194121:37195738:3719587537194001:37194121ENSG00000170471.10ENST00000262879.6,ENST00000397040.1
exon_skip_3517752037195738:37195875:37198530:37198639:37199411:3719949037198530:37198639ENSG00000170471.10ENST00000262879.6,ENST00000397042.3,ENST00000397038.1,ENST00000397040.1,ENST00000438490.1
exon_skip_3517802037198530:37198639:37199411:37199490:37202792:3720294137199411:37199490ENSG00000170471.10ENST00000262879.6,ENST00000397042.3,ENST00000397038.1,ENST00000397040.1,ENST00000438490.1,ENST00000461147.1
exon_skip_3517812037199411:37199490:37202792:37202941:37203416:3720358337202792:37202941ENSG00000170471.10ENST00000262879.6,ENST00000397042.3,ENST00000397038.1,ENST00000397040.1,ENST00000438490.1,ENST00000461147.1

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 RALGAPB

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
ENST000002628793712599537126159Frame-shift
ENST000003970403712599537126159Frame-shift
ENST000002628793712808937128276Frame-shift
ENST000003970403712808937128276Frame-shift
ENST000002628793714483437145013Frame-shift
ENST000003970403714483437145013Frame-shift
ENST000002628793715013937150341Frame-shift
ENST000003970403715013937150341Frame-shift
ENST000002628793716371637163850Frame-shift
ENST000003970403716371637163850Frame-shift
ENST000002628793717488537175073Frame-shift
ENST000003970403717488537175073Frame-shift
ENST000002628793717733137177438Frame-shift
ENST000003970403717733137177438Frame-shift
ENST000002628793719853037198639Frame-shift
ENST000003970403719853037198639Frame-shift
ENST000002628793719941137199490Frame-shift
ENST000003970403719941137199490Frame-shift
ENST000002628793720279237202941Frame-shift
ENST000003970403720279237202941Frame-shift
ENST000002628793713771937137851In-frame
ENST000003970403713771937137851In-frame
ENST000002628793718250937182719In-frame
ENST000003970403718250937182719In-frame
ENST000002628793719400137194121In-frame
ENST000003970403719400137194121In-frame

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
ENST000002628793712599537126159Frame-shift
ENST000003970403712599537126159Frame-shift
ENST000002628793712808937128276Frame-shift
ENST000003970403712808937128276Frame-shift
ENST000002628793714483437145013Frame-shift
ENST000003970403714483437145013Frame-shift
ENST000002628793715013937150341Frame-shift
ENST000003970403715013937150341Frame-shift
ENST000002628793716371637163850Frame-shift
ENST000003970403716371637163850Frame-shift
ENST000002628793717488537175073Frame-shift
ENST000003970403717488537175073Frame-shift
ENST000002628793717733137177438Frame-shift
ENST000003970403717733137177438Frame-shift
ENST000002628793719853037198639Frame-shift
ENST000003970403719853037198639Frame-shift
ENST000002628793719941137199490Frame-shift
ENST000003970403719941137199490Frame-shift
ENST000002628793720279237202941Frame-shift
ENST000003970403720279237202941Frame-shift
ENST000002628793713771937137851In-frame
ENST000003970403713771937137851In-frame
ENST000002628793718250937182719In-frame
ENST000003970403718250937182719In-frame
ENST000002628793719400137194121In-frame
ENST000003970403719400137194121In-frame

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

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
ENST0000026287986781494371377193713785110251156247290
ENST00000397040845214943713771937137851799930247290
ENST000002628798678149437182509371827193447365610541124
ENST000003970408452149437182509371827193221343010541124
ENST000002628798678149437194001371941213982410112321272
ENST000003970408452149437194001371941213756387512321272

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
ENST0000026287986781494371377193713785110251156247290
ENST00000397040845214943713771937137851799930247290
ENST000002628798678149437182509371827193447365610541124
ENST000003970408452149437182509371827193221343010541124
ENST000002628798678149437194001371941213982410112321272
ENST000003970408452149437194001371941213756387512321272

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 RALGAPB

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.

check button - Non-synonymous mutations located in the skipped exons in TCGA.
Cancer typeSampleESIDSkipped exon startSkipped exon endMutation startMutation endMutation typeReference seqMutation seqAAchange
LIHCTCGA-DD-A1EG-01exon_skip_351730
37125996371261593712611137126111Frame_Shift_DelT-p.F169fs
LIHCTCGA-BC-A3KG-01exon_skip_351742
37144835371450133714485637144856Frame_Shift_DelC-p.N298fs
LIHCTCGA-DD-A1EG-01exon_skip_351742
37144835371450133714496537144965Frame_Shift_DelT-p.F336fs
LIHCTCGA-G3-A3CJ-01exon_skip_351746
37150140371503413715022037150220Frame_Shift_DelT-p.F500fs
UCECTCGA-A5-A0G9-01exon_skip_351746
37150140371503413715029037150290Frame_Shift_DelT-p.I523fs
LIHCTCGA-G3-A3CJ-01exon_skip_351749
exon_skip_351748
37163717371638503716378637163786Frame_Shift_DelC-p.S772fs
LIHCTCGA-G3-A3CJ-01exon_skip_351749
exon_skip_351748
37163729371638503716378637163786Frame_Shift_DelC-p.S772fs
HNSCTCGA-F7-A624-01exon_skip_351757
37177332371774383717733637177336Frame_Shift_DelT-p.D969fs
UCECTCGA-BG-A18B-01exon_skip_351757
37177332371774383717733637177336Frame_Shift_DelT-p.D969fs
LIHCTCGA-BC-A3KG-01exon_skip_351757
37177332371774383717740737177407Frame_Shift_DelT-p.L994fs
STADTCGA-BR-4256-01exon_skip_351758
37182510371827193718267637182676Frame_Shift_DelT-p.L1110fs
LIHCTCGA-G3-A3CJ-01exon_skip_351761
37191175371913403719122637191226Frame_Shift_DelT-p.F1195fs
BLCATCGA-E7-A7XN-01exon_skip_351730
37125996371261593712602137126021Nonsense_MutationCTp.R139*
LUADTCGA-MP-A4TC-01exon_skip_351730
37125996371261593712610337126103Nonsense_MutationTGp.L166*
LUADTCGA-49-6744-01exon_skip_351757
37177332371774383717741537177415Nonsense_MutationATp.R996*
CHOLTCGA-W5-AA2G-01exon_skip_351761
37191175371913403719122337191223Nonsense_MutationGTp.E1194*
CHOLTCGA-W5-AA2G-01exon_skip_351761
37191175371913403719122337191223Nonsense_MutationGTp.E1194X
PRADTCGA-EJ-7125-01exon_skip_351766
37193999371941213719402537194025Nonsense_MutationGTp.G1241*
PRADTCGA-EJ-7125-01exon_skip_351768
37194002371941213719402537194025Nonsense_MutationGTp.G1241*
HNSCTCGA-CQ-A4CA-01exon_skip_351780
37199412371994903719942737199427Nonsense_MutationCGp.S1360*
KICHTCGA-KM-8438-01exon_skip_351730
37125996371261593712616137126161Splice_SiteTCp.G185_splice

check button - Depth of coverage in the three exons composing exon skipping event
Depth of coverage in three exonsMutation description

check button - Non-synonymous mutations located in the skipped exons in CCLE.
SampleSkipped exon startSkipped exon endMutation startMutation endMutation typeReference seqMutation seqAAchange
HEC108_ENDOMETRIUM37144835371450133714496537144965Frame_Shift_DelT-p.F336fs
FTC238_THYROID37177332371774383717733637177336Frame_Shift_DelT-p.D969fs
HEC151_ENDOMETRIUM37177332371774383717733637177336Frame_Shift_DelT-p.D969fs
SNU1_STOMACH37177332371774383717733637177336Frame_Shift_DelT-p.D969fs
PACADD188_PANCREAS37198531371986393719859337198593Frame_Shift_DelT-p.P1339fs
CW2_LARGE_INTESTINE37182510371827193718269537182696Frame_Shift_Ins-Tp.F1117fs
IGROV1_OVARY37193999371941213719403437194035Frame_Shift_Ins-Tp.I1244fs
IGROV1_OVARY37194002371941213719403437194035Frame_Shift_Ins-Tp.I1244fs
BICR18_UPPER_AERODIGESTIVE_TRACT37193999371941213719411637194117Frame_Shift_Ins-Ap.SL1271fs
BICR18_UPPER_AERODIGESTIVE_TRACT37194002371941213719411637194117Frame_Shift_Ins-Ap.SL1271fs
CW2_LARGE_INTESTINE37202793372029413720288237202883Frame_Shift_Ins-Ap.GK1411fs
HCC2998_LARGE_INTESTINE37125996371261593712612937126129Missense_MutationGAp.D175N
HCC1569_BREAST37125996371261593712615737126157Missense_MutationAGp.Q184R
SW684_SOFT_TISSUE37128090371282763712827337128273Missense_MutationCTp.S246F
OVCAR5_OVARY37137720371378513713780337137803Missense_MutationAGp.D275G
SNU1040_LARGE_INTESTINE37144835371450133714484037144840Missense_MutationCAp.P293H
C99_LARGE_INTESTINE37144835371450133714486337144863Missense_MutationAGp.I301V
EN_ENDOMETRIUM37144835371450133714489437144894Missense_MutationACp.Q311P
MEWO_SKIN37144835371450133714493837144938Missense_MutationCTp.P326S
LS411N_LARGE_INTESTINE37150140371503413715024137150241Missense_MutationGTp.D507Y
PK45H_PANCREAS37150140371503413715028037150280Missense_MutationCGp.L520V
U266B1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE37163729371638503716380737163807Missense_MutationGCp.S779T
U266B1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE37163717371638503716380737163807Missense_MutationGCp.S779T
JSC1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE37163729371638503716380937163809Missense_MutationAGp.I780V
JSC1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE37163717371638503716380937163809Missense_MutationAGp.I780V
EN_ENDOMETRIUM37174886371750733717489937174899Missense_MutationCAp.L910I
MN60_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE37174886371750733717490537174905Missense_MutationGAp.A912T
MONOMAC1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE37174886371750733717491137174911Missense_MutationCTp.P914S
MONOMAC6_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE37174886371750733717491137174911Missense_MutationCTp.P914S
HS742T_FIBROBLAST37174886371750733717504737175047Missense_MutationTCp.L959P
SW1573_LUNG37177332371774383717733937177339Missense_MutationTGp.F970L
DAUDI_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE37191175371913403719120337191203Missense_MutationCAp.T1187N
BICR18_UPPER_AERODIGESTIVE_TRACT37191175371913403719120337191203Missense_MutationCAp.T1187N
SF767_CENTRAL_NERVOUS_SYSTEM37191175371913403719122337191223Missense_MutationGAp.E1194K
T98G_CENTRAL_NERVOUS_SYSTEM37191175371913403719132937191329Missense_MutationGAp.G1229E
U2OS_BONE37193999371941213719407037194070Missense_MutationGTp.D1256Y
U2OS_BONE37194002371941213719407037194070Missense_MutationGTp.D1256Y
SKMEL2_SKIN37198531371986393719858337198583Missense_MutationCTp.P1336L
HCC202_BREAST37198531371986393719859437198594Missense_MutationGCp.E1340Q
SNU1040_LARGE_INTESTINE37198531371986393719862537198625Missense_MutationGAp.R1350H
BICR18_UPPER_AERODIGESTIVE_TRACT37199412371994903719943137199431Missense_MutationGTp.E1361D
JHUEM2_ENDOMETRIUM37137720371378513713782837137828Nonsense_MutationGAp.W283*

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

check button sQTL information located at the skipped exons.
Exon skip IDChromosomeThree exonsSkippped exonENSTCancer typeSNP idLocationDNA change (ref/var)P-value

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


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


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RelatedDrugs for RALGAPB

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 RALGAPB

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