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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 ALB

check button Gene summary
Gene informationGene symbol

ALB

Gene ID

213

Gene namealbumin
SynonymsHSA|PRO0883|PRO0903|PRO1341
Cytomap

4q13.3

Type of geneprotein-coding
Descriptionserum albumin
Modification date20180522
UniProtAcc

P02768

ContextPubMed: ALB [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
ALB

GO:0009267

cellular response to starvation

16245148

ALB

GO:0019836

hemolysis by symbiont of host erythrocytes

16394536

ALB

GO:0043066

negative regulation of apoptotic process

16153637

ALB

GO:0051659

maintenance of mitochondrion location

16153637


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Exon skipping events across known transcript of Ensembl for ALB 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 ALB

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 ALB

check button Information of exkip skipping event in TCGA.
Exon skip IDchrExons involved in exon skippingSkipped exonENSGENSTs
exon_skip_424152474270085:74270123:74270832:74270890:74272345:7427247874270832:74270890ENSG00000163631.12ENST00000295897.4,ENST00000509063.1,ENST00000515133.1,ENST00000441319.1
exon_skip_424155474270017:74270123:74270832:74270890:74275071:7427520474270832:74270890ENSG00000163631.12ENST00000401494.3
exon_skip_424157474270085:74270123:74270837:74270890:74272345:7427247874270837:74270890ENSG00000163631.12ENST00000510166.1
exon_skip_424161474270017:74270123:74272345:74272478:74275071:7427520474272345:74272478ENSG00000163631.12ENST00000503124.1
exon_skip_424170474270837:74270890:74272345:74272478:74274310:7427445774272345:74272478ENSG00000163631.12ENST00000514786.1,ENST00000295897.4,ENST00000510166.1,ENST00000509063.1,ENST00000515133.1,ENST00000441319.1
exon_skip_424185474272367:74272478:74274310:74274522:74275071:7427520474274310:74274522ENSG00000163631.12ENST00000514786.1,ENST00000295897.4,ENST00000509063.1,ENST00000441319.1
exon_skip_424187474272345:74272478:74275071:74275204:74276028:7427612674275071:74275204ENSG00000163631.12ENST00000503124.1
exon_skip_424192474274354:74274522:74275071:74275204:74276028:7427608174275071:74275204ENSG00000163631.12ENST00000295897.4,ENST00000509063.1,ENST00000505649.1
exon_skip_424206474276096:74276126:74277712:74277842:74279136:7427935174277712:74277842ENSG00000163631.12ENST00000401494.3,ENST00000295897.4,ENST00000476441.2,ENST00000509063.1,ENST00000511370.1,ENST00000505649.1,ENST00000503124.1
exon_skip_424225474280751:74280884:74281972:74282070:74283247:7428333174281972:74282070ENSG00000163631.12ENST00000415165.2,ENST00000484992.1,ENST00000401494.3,ENST00000295897.4,ENST00000476441.2,ENST00000509063.1,ENST00000511370.1,ENST00000503124.1
exon_skip_424227474280751:74280884:74281972:74282070:74283804:7428382074281972:74282070ENSG00000163631.12ENST00000505649.1
exon_skip_424250474281973:74282070:74283247:74283386:74283804:7428381974283247:74283386ENSG00000163631.12ENST00000415165.2,ENST00000401494.3,ENST00000295897.4,ENST00000476441.2,ENST00000509063.1,ENST00000511370.1,ENST00000503124.1
exon_skip_424256474281973:74282070:74283804:74284028:74285223:7428526274283804:74284028ENSG00000163631.12ENST00000505649.1
exon_skip_424276474283247:74283386:74283804:74284028:74285223:7428526274283804:74284028ENSG00000163631.12ENST00000415165.2,ENST00000401494.3,ENST00000295897.4,ENST00000476441.2,ENST00000509063.1,ENST00000511370.1,ENST00000503124.1
exon_skip_424308474284016:74284028:74285223:74285356:74285970:7428603874285223:74285356ENSG00000163631.12ENST00000415165.2,ENST00000401494.3,ENST00000295897.4,ENST00000476441.2,ENST00000511370.1,ENST00000505649.1,ENST00000503124.1
exon_skip_424311474283982:74284028:74285223:74285356:74286808:7428691074285223:74285356ENSG00000163631.12ENST00000509063.1
exon_skip_424329474285333:74285356:74285970:74286038:74286808:7428691074285970:74286038ENSG00000163631.12ENST00000415165.2,ENST00000401494.3,ENST00000295897.4,ENST00000476441.2,ENST00000511370.1,ENST00000505649.1,ENST00000503124.1
exon_skip_424339474285970:74286038:74286509:74286665:74286808:7428691074286509:74286665ENSG00000163631.12ENST00000495173.1

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

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Exon skipping events with PSIs in GTEx for ALB

check button Information of exkip skipping event in GTEx
Exon skip IDchrExons involved in exon skippingSkipped exonENSGENSTs
exon_skip_424152474270085:74270123:74270832:74270890:74272345:7427247874270832:74270890ENSG00000163631.12ENST00000441319.1,ENST00000295897.4,ENST00000515133.1,ENST00000509063.1
exon_skip_424155474270017:74270123:74270832:74270890:74275071:7427520474270832:74270890ENSG00000163631.12ENST00000401494.3
exon_skip_424157474270085:74270123:74270837:74270890:74272345:7427247874270837:74270890ENSG00000163631.12ENST00000510166.1
exon_skip_424161474270017:74270123:74272345:74272478:74275071:7427520474272345:74272478ENSG00000163631.12ENST00000503124.1
exon_skip_424170474270837:74270890:74272345:74272478:74274310:7427445774272345:74272478ENSG00000163631.12ENST00000441319.1,ENST00000295897.4,ENST00000510166.1,ENST00000515133.1,ENST00000514786.1,ENST00000509063.1
exon_skip_424185474272367:74272478:74274310:74274522:74275071:7427520474274310:74274522ENSG00000163631.12ENST00000441319.1,ENST00000295897.4,ENST00000514786.1,ENST00000509063.1
exon_skip_424187474272345:74272478:74275071:74275204:74276028:7427612674275071:74275204ENSG00000163631.12ENST00000503124.1
exon_skip_424192474274354:74274522:74275071:74275204:74276028:7427608174275071:74275204ENSG00000163631.12ENST00000295897.4,ENST00000509063.1,ENST00000505649.1
exon_skip_424206474276096:74276126:74277712:74277842:74279136:7427935174277712:74277842ENSG00000163631.12ENST00000295897.4,ENST00000476441.2,ENST00000503124.1,ENST00000509063.1,ENST00000401494.3,ENST00000505649.1,ENST00000511370.1
exon_skip_424225474280751:74280884:74281972:74282070:74283247:7428333174281972:74282070ENSG00000163631.12ENST00000295897.4,ENST00000415165.2,ENST00000476441.2,ENST00000503124.1,ENST00000509063.1,ENST00000401494.3,ENST00000511370.1,ENST00000484992.1
exon_skip_424227474280751:74280884:74281972:74282070:74283804:7428382074281972:74282070ENSG00000163631.12ENST00000505649.1
exon_skip_424250474281973:74282070:74283247:74283386:74283804:7428381974283247:74283386ENSG00000163631.12ENST00000295897.4,ENST00000415165.2,ENST00000476441.2,ENST00000503124.1,ENST00000509063.1,ENST00000401494.3,ENST00000511370.1
exon_skip_424256474281973:74282070:74283804:74284028:74285223:7428526274283804:74284028ENSG00000163631.12ENST00000505649.1
exon_skip_424276474283247:74283386:74283804:74284028:74285223:7428526274283804:74284028ENSG00000163631.12ENST00000295897.4,ENST00000415165.2,ENST00000476441.2,ENST00000503124.1,ENST00000509063.1,ENST00000401494.3,ENST00000511370.1
exon_skip_424308474284016:74284028:74285223:74285356:74285970:7428603874285223:74285356ENSG00000163631.12ENST00000295897.4,ENST00000415165.2,ENST00000476441.2,ENST00000503124.1,ENST00000401494.3,ENST00000505649.1,ENST00000511370.1
exon_skip_424311474283982:74284028:74285223:74285356:74286808:7428691074285223:74285356ENSG00000163631.12ENST00000509063.1
exon_skip_424329474285333:74285356:74285970:74286038:74286808:7428691074285970:74286038ENSG00000163631.12ENST00000295897.4,ENST00000415165.2,ENST00000476441.2,ENST00000503124.1,ENST00000401494.3,ENST00000505649.1,ENST00000511370.1
exon_skip_424339474285970:74286038:74286509:74286665:74286808:7428691074286509:74286665ENSG00000163631.12ENST00000495173.1

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 ALB

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
ENST0000029589774285970742860383UTR-3CDS
ENST000002958977427083274270890Frame-shift
ENST000002958977427234574272478Frame-shift
ENST000002958977427431074274522Frame-shift
ENST000002958977427507174275204Frame-shift
ENST000002958977427771274277842Frame-shift
ENST000002958977428197274282070Frame-shift
ENST000002958977428324774283386Frame-shift
ENST000002958977428380474284028Frame-shift
ENST000002958977428522374285356Frame-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
ENST0000029589774285970742860383UTR-3CDS
ENST000002958977427083274270890Frame-shift
ENST000002958977427234574272478Frame-shift
ENST000002958977427431074274522Frame-shift
ENST000002958977427507174275204Frame-shift
ENST000002958977427771274277842Frame-shift
ENST000002958977428197274282070Frame-shift
ENST000002958977428324774283386Frame-shift
ENST000002958977428380474284028Frame-shift
ENST000002958977428522374285356Frame-shift

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

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 ALB

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.
ALB_LIHC_exon_skip_424250_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_424157
exon_skip_424152
exon_skip_424155
74270833742708907427088374270883Frame_Shift_DelA-p.K44fs
LIHCTCGA-G3-A3CJ-01exon_skip_424157
exon_skip_424152
exon_skip_424155
74270838742708907427088374270883Frame_Shift_DelA-p.K44fs
LIHCTCGA-DD-AACN-01exon_skip_424161
exon_skip_424170
74272346742724787427245774272457Frame_Shift_DelT-p.A83fs
LIHCTCGA-WQ-AB4B-01exon_skip_424161
exon_skip_424170
74272346742724787427245974272459Frame_Shift_DelA-p.E84fs
CHOLTCGA-W5-AA39-01exon_skip_424185
74274311742745227427450374274507Frame_Shift_DelGAAGA-p.154_156del
CHOLTCGA-W5-AA39-01exon_skip_424185
74274311742745227427450374274507Frame_Shift_DelGAAGA-p.EE155fs
LIHCTCGA-DD-A1EG-01exon_skip_424187
exon_skip_424192
74275072742752047427511374275113Frame_Shift_DelC-p.A175fs
LIHCTCGA-DD-AADQ-01exon_skip_424227
exon_skip_424225
74281973742820707428199274281992Frame_Shift_DelT-p.L404fs
LIHCTCGA-DD-A3A0-01exon_skip_424227
exon_skip_424225
74281973742820707428201874282018Frame_Shift_DelA-p.K413fs
LIHCTCGA-DD-A39Y-01exon_skip_424227
exon_skip_424225
74281973742820707428202274282022Frame_Shift_DelA-p.Q414fs
LIHCTCGA-DD-AADG-01exon_skip_424227
exon_skip_424225
74281973742820707428205874282071Frame_Shift_DelAATTCCAGAATGCG-p.426_430del
LIHCTCGA-DD-A39X-01exon_skip_424250
74283248742833867428325874283259Frame_Shift_DelCG-p.433_434del
LIHCTCGA-DD-A39X-01exon_skip_424250
74283248742833867428325874283259Frame_Shift_DelCG-p.R434fs
KIRCTCGA-BP-4971-01exon_skip_424250
74283248742833867428326074283260Frame_Shift_DelT-p.R434fs
LIHCTCGA-DD-A39Y-01exon_skip_424250
74283248742833867428327074283270Frame_Shift_DelA-p.K438fs
LIHCTCGA-2Y-A9GZ-01exon_skip_424250
74283248742833867428330274283306Frame_Shift_DelAGAGG-p.448_449del
LIHCTCGA-2Y-A9GS-01exon_skip_424250
74283248742833867428335374283360Frame_Shift_DelTGAAGCAA-p.465_467del
LIHCTCGA-G3-A25S-01exon_skip_424250
74283248742833867428338674283387Frame_Shift_DelTG-p.476_476del
LIHCTCGA-G3-AAV5-01exon_skip_424250
74283248742833867428338674283387Frame_Shift_DelTG-p.476_476del
LIHCTCGA-K7-A6G5-01exon_skip_424250
74283248742833867428338674283387Frame_Shift_DelTG-p.476_476del
UCECTCGA-D1-A0ZS-01exon_skip_424256
exon_skip_424276
74283805742840287428381374283813Frame_Shift_DelG-p.V480fs
LIHCTCGA-3K-AAZ8-01exon_skip_424256
exon_skip_424276
74283805742840287428386274283863Frame_Shift_DelAG-p.495_496del
LIHCTCGA-BC-A8YO-01exon_skip_424256
exon_skip_424276
74283805742840287428402174284024Frame_Shift_DelAAAC-p.548_549del
LIHCTCGA-DD-A118-01exon_skip_424311
exon_skip_424308
74285224742853567428522974285286Frame_Shift_DelTTGTTGAGCTCGTGAAACACAAGCCCAAGGCAACAAAAGAGCAACTGAAAGCTGTTAT-p.553_572del
LIHCTCGA-DD-A39Y-01exon_skip_424311
exon_skip_424308
74285224742853567428526374285263Frame_Shift_DelA-p.T564fs
LIHCTCGA-DD-AAW0-01exon_skip_424311
exon_skip_424308
74285224742853567428530274285311Frame_Shift_DelTTTTGTAGAG-p.577_580del
LIHCTCGA-DD-A39Y-01exon_skip_424329
74285971742860387428597474285974Frame_Shift_DelA-p.K598fs
LIHCTCGA-DD-A1EG-01exon_skip_424329
74285971742860387428598174285981Frame_Shift_DelT-p.L599fs
LIHCTCGA-DD-AACO-01exon_skip_424329
74285971742860387428600774286007Frame_Shift_DelG-p.L607fs
LIHCTCGA-DD-AACH-01exon_skip_424329
74285971742860387428600974286012Frame_Shift_DelCTTA-p.608_609del
LIHCTCGA-CC-A5UE-01exon_skip_424161
exon_skip_424170
74272346742724787427239274272393Frame_Shift_Ins-ATCAp.D62fs
LIHCTCGA-CC-A5UE-01exon_skip_424161
exon_skip_424170
74272346742724787427239274272393Frame_Shift_Ins-ATCAp.S62fs
LIHCTCGA-K7-AAU7-01exon_skip_424185
74274311742745227427437974274380Frame_Shift_Ins-AGCAp.D113fs
LIHCTCGA-EP-A3JL-01exon_skip_424185
74274311742745227427438774274388Frame_Shift_Ins-Ap.A116fs
LIHCTCGA-EP-A3JL-01exon_skip_424185
74274311742745227427438774274388Frame_Shift_Ins-Ap.E116fs
LIHCTCGA-G3-AAV5-01exon_skip_424185
74274311742745227427451774274518Frame_Shift_Ins-Ap.L159fs
LIHCTCGA-ES-A2HS-01exon_skip_424187
exon_skip_424192
74275072742752047427512574275126Frame_Shift_Ins-Cp.L179fs
LIHCTCGA-DD-A1EE-01exon_skip_424250
74283248742833867428329774283298Frame_Shift_Ins-Tp.L447fs
LIHCTCGA-G3-A25S-01exon_skip_424250
74283248742833867428329774283298Frame_Shift_Ins-Tp.C447fs
LIHCTCGA-G3-A25S-01exon_skip_424250
74283248742833867428329774283298Frame_Shift_Ins-Tp.L447fs
LIHCTCGA-K7-A6G5-01exon_skip_424311
exon_skip_424308
74285224742853567428529574285296Frame_Shift_Ins-Cp.C575fs
LIHCTCGA-K7-A6G5-01exon_skip_424311
exon_skip_424308
74285224742853567428529574285296Frame_Shift_Ins-Cp.F575fs
UCECTCGA-BS-A0UF-01exon_skip_424185
74274311742745227427445274274452Nonsense_MutationCTp.R138*
THYMTCGA-4V-A9QL-01exon_skip_424206
74277713742778427427780174277801Nonsense_MutationGTp.E268X
SKCMTCGA-EE-A2GO-06exon_skip_424206
74277713742778427427782574277825Nonsense_MutationGTp.E276*
LUADTCGA-99-7458-01exon_skip_424311
exon_skip_424308
74285224742853567428533674285336Nonsense_MutationGTp.E589*
LIHCTCGA-DD-A4NK-01exon_skip_424185
74274311742745227427452174274524Splice_SiteAAGT-p.161_splice
LIHCTCGA-ES-A2HS-01exon_skip_424187
exon_skip_424192
74275072742752047427520574275205Splice_SiteGA.
LIHCTCGA-G3-A3CJ-01exon_skip_424227
exon_skip_424225
74281973742820707428207174282071Splice_SiteGA.
LIHCTCGA-LG-A9QD-01exon_skip_424227
exon_skip_424225
74281973742820707428207274282072Splice_SiteTG.
LIHCTCGA-G3-A25S-01exon_skip_424250
74283248742833867428338674283387Splice_SiteTG-p.476_splice
LIHCTCGA-K7-A6G5-01exon_skip_424250
74283248742833867428338674283387Splice_SiteTG-p.476_splice
TGCTTCGA-2G-AAKH-01exon_skip_424256
exon_skip_424276
74283805742840287428380474283804Splice_SiteGT.

check button - Depth of coverage in the three exons composing exon skipping event
Depth of coverage in three exonsMutation description
ALB_74284016_74284028_74285223_74285356_74285970_74286038_TCGA-DD-A39Y-01Sample: TCGA-DD-A39Y-01
Cancer type: LIHC
ESID: exon_skip_424225
Skipped exon start: 74281973
Skipped exon end: 74282070
Mutation start: 74282022
Mutation end: 74282022
Mutation type: Frame_Shift_Del
Reference seq: A
Mutation seq: -
AAchange: p.Q414fs
ALB_74284016_74284028_74285223_74285356_74285970_74286038_TCGA-DD-A39Y-01Sample: TCGA-DD-A39Y-01
Cancer type: LIHC
ESID: exon_skip_424250
Skipped exon start: 74283248
Skipped exon end: 74283386
Mutation start: 74283270
Mutation end: 74283270
Mutation type: Frame_Shift_Del
Reference seq: A
Mutation seq: -
AAchange: p.K438fs
ALB_74284016_74284028_74285223_74285356_74285970_74286038_TCGA-DD-A39Y-01Sample: TCGA-DD-A39Y-01
Cancer type: LIHC
ESID: exon_skip_424308
Skipped exon start: 74285224
Skipped exon end: 74285356
Mutation start: 74285263
Mutation end: 74285263
Mutation type: Frame_Shift_Del
Reference seq: A
Mutation seq: -
AAchange: p.T564fs
ALB_74284016_74284028_74285223_74285356_74285970_74286038_TCGA-DD-A39Y-01Sample: TCGA-DD-A39Y-01
Cancer type: LIHC
ESID: exon_skip_424329
Skipped exon start: 74285971
Skipped exon end: 74286038
Mutation start: 74285974
Mutation end: 74285974
Mutation type: Frame_Shift_Del
Reference seq: A
Mutation seq: -
AAchange: p.K598fs
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ALB_74281973_74282070_74283247_74283386_74283804_74283819_TCGA-G3-A25S-01Sample: TCGA-G3-A25S-01
Cancer type: LIHC
ESID: exon_skip_424250
Skipped exon start: 74283248
Skipped exon end: 74283386
Mutation start: 74283386
Mutation end: 74283387
Mutation type: Frame_Shift_Del
Reference seq: TG
Mutation seq: -
AAchange: p.476_476del
ALB_74281973_74282070_74283247_74283386_74283804_74283819_TCGA-G3-A25S-01Sample: TCGA-G3-A25S-01
Cancer type: LIHC
ESID: exon_skip_424250
Skipped exon start: 74283248
Skipped exon end: 74283386
Mutation start: 74283297
Mutation end: 74283298
Mutation type: Frame_Shift_Ins
Reference seq: -
Mutation seq: T
AAchange: p.L447fs
ALB_74281973_74282070_74283247_74283386_74283804_74283819_TCGA-G3-A25S-01Sample: TCGA-G3-A25S-01
Cancer type: LIHC
ESID: exon_skip_424250
Skipped exon start: 74283248
Skipped exon end: 74283386
Mutation start: 74283297
Mutation end: 74283298
Mutation type: Frame_Shift_Ins
Reference seq: -
Mutation seq: T
AAchange: p.C447fs
ALB_74281973_74282070_74283247_74283386_74283804_74283819_TCGA-G3-A25S-01Sample: TCGA-G3-A25S-01
Cancer type: LIHC
ESID: exon_skip_424250
Skipped exon start: 74283248
Skipped exon end: 74283386
Mutation start: 74283386
Mutation end: 74283387
Mutation type: Splice_Site
Reference seq: TG
Mutation seq: -
AAchange: p.476_splice
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ALB_74281973_74282070_74283247_74283386_74283804_74283819_TCGA-DD-A39Y-01Sample: TCGA-DD-A39Y-01
Cancer type: LIHC
ESID: exon_skip_424225
Skipped exon start: 74281973
Skipped exon end: 74282070
Mutation start: 74282022
Mutation end: 74282022
Mutation type: Frame_Shift_Del
Reference seq: A
Mutation seq: -
AAchange: p.Q414fs
ALB_74281973_74282070_74283247_74283386_74283804_74283819_TCGA-DD-A39Y-01Sample: TCGA-DD-A39Y-01
Cancer type: LIHC
ESID: exon_skip_424250
Skipped exon start: 74283248
Skipped exon end: 74283386
Mutation start: 74283270
Mutation end: 74283270
Mutation type: Frame_Shift_Del
Reference seq: A
Mutation seq: -
AAchange: p.K438fs
ALB_74281973_74282070_74283247_74283386_74283804_74283819_TCGA-DD-A39Y-01Sample: TCGA-DD-A39Y-01
Cancer type: LIHC
ESID: exon_skip_424308
Skipped exon start: 74285224
Skipped exon end: 74285356
Mutation start: 74285263
Mutation end: 74285263
Mutation type: Frame_Shift_Del
Reference seq: A
Mutation seq: -
AAchange: p.T564fs
ALB_74281973_74282070_74283247_74283386_74283804_74283819_TCGA-DD-A39Y-01Sample: TCGA-DD-A39Y-01
Cancer type: LIHC
ESID: exon_skip_424329
Skipped exon start: 74285971
Skipped exon end: 74286038
Mutation start: 74285974
Mutation end: 74285974
Mutation type: Frame_Shift_Del
Reference seq: A
Mutation seq: -
AAchange: p.K598fs
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ALB_74270017_74270123_74272345_74272478_74275071_74275204_TCGA-DD-AACN-01Sample: TCGA-DD-AACN-01
Cancer type: LIHC
ESID: exon_skip_424170
Skipped exon start: 74272346
Skipped exon end: 74272478
Mutation start: 74272457
Mutation end: 74272457
Mutation type: Frame_Shift_Del
Reference seq: T
Mutation seq: -
AAchange: p.A83fs
exon_skip_424161_LIHC_TCGA-DD-AACN-01.png
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check button - Non-synonymous mutations located in the skipped exons in CCLE.
SampleSkipped exon startSkipped exon endMutation startMutation endMutation typeReference seqMutation seqAAchange
GP2D_LARGE_INTESTINE74283805742840287428395274283952Frame_Shift_DelT-p.F376fs
GP5D_LARGE_INTESTINE74283805742840287428395274283952Frame_Shift_DelT-p.F376fs
NCIH1155_LUNG74274311742745227427444774274448Frame_Shift_Ins-Cp.LP136fs
L1236_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE74270838742708907427085474270854Missense_MutationGAp.R34Q
L1236_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE74270833742708907427085474270854Missense_MutationGAp.R34Q
SCC90_UPPER_AERODIGESTIVE_TRACT74270838742708907427086374270863Missense_MutationAGp.D37G
SCC90_UPPER_AERODIGESTIVE_TRACT74270833742708907427086374270863Missense_MutationAGp.D37G
HEC251_ENDOMETRIUM74270838742708907427088074270880Missense_MutationTGp.F43V
HEC251_ENDOMETRIUM74270833742708907427088074270880Missense_MutationTGp.F43V
SHP77_LUNG74274311742745227427432474274324Missense_MutationGAp.G95E
GMEL_SKIN74274311742745227427438774274387Missense_MutationCTp.A116V
NCIH1339_LUNG74275072742752047427509274275092Missense_MutationGAp.R18K
SNU81_LARGE_INTESTINE74275072742752047427513474275134Missense_MutationCTp.A32V
HCT15_LARGE_INTESTINE74277713742778427427771574277715Missense_MutationCTp.A89V
EW22_BONE74277713742778427427771774277717Missense_MutationGAp.V90I
WM88_SKIN74281973742820707428204874282048Missense_MutationGAp.G273R
NCIH1770_LUNG74281973742820707428206774282067Missense_MutationATp.N279I
HCT15_LARGE_INTESTINE74283248742833867428328974283289Missense_MutationCTp.T294I
SW684_SOFT_TISSUE74283248742833867428330374283303Missense_MutationGAp.E299K
SF126_CENTRAL_NERVOUS_SYSTEM74283805742840287428388174283881Missense_MutationCTp.T352I
H4_CENTRAL_NERVOUS_SYSTEM74283805742840287428392874283928Missense_MutationGAp.D368N
CW2_LARGE_INTESTINE74283805742840287428393874283938Missense_MutationAGp.Y371C
CW2_LARGE_INTESTINE74283805742840287428400374284003Missense_MutationAGp.K393E
NCIH146_LUNG74285224742853567428524774285247Missense_MutationATp.H409L
NCIH3122_LUNG74285224742853567428531074285310Missense_MutationAGp.E430G
NCIH2141_LUNG74285224742853567428532974285329Missense_MutationCGp.D436E
RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE74285971742860387428598174285981Missense_MutationTGp.L449R
HS606T_FIBROBLAST74285971742860387428599874285998Missense_MutationGCp.A455P
NCIH513_PLEURA74274311742745227427442074274420Nonsense_MutationTAp.L127*
SNU761_LIVER74274311742745227427452174274524Splice_SiteAAGT-p.K161fs

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

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 ALB


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


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RelatedDrugs for ALB

check button Approved drugs targeting this gene.
(DrugBank Version 5.1.0 2018-04-02)
GeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status
P02768DB00493CefotaximeSerum albuminsmall moleculeapproved
P02768DB01045RifampicinSerum albuminsmall moleculeapproved
P02768DB03255PhenolSerum albuminsmall moleculeapproved|experimental
P02768DB00276AmsacrineSerum albuminsmall moleculeapproved|investigational
P02768DB00545PyridostigmineSerum albuminsmall moleculeapproved|investigational
P02768DB06713NorelgestrominSerum albuminsmall moleculeapproved|investigational
P02768DB12965SilverSerum albuminsmall moleculeapproved|investigational

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RelatedDiseases for ALB

check button Diseases associated with this gene.
(DisGeNet 4.0)
GeneDisease IDDisease name# pubmedsSource
ALBC0033687Proteinuria9CTD_human
ALBC0017658Glomerulonephritis8CTD_human
ALBC0022658Kidney Diseases8CTD_human
ALBC0017665Membranous glomerulonephritis6CTD_human
ALBC0027697Nephritis6CTD_human
ALBC0027707Nephritis, Interstitial4CTD_human
ALBC0038454Cerebrovascular accident4CTD_human
ALBC0342185Hyperthyroxinemia, Familial Dysalbuminemic4CTD_human;UNIPROT
ALBC0023893Liver Cirrhosis, Experimental3CTD_human
ALBC0025290Aseptic Meningitis3CTD_human
ALBC2609414Acute kidney injury3CTD_human
ALBC0014544Epilepsy2CTD_human
ALBC0020649Hypotension2CTD_human;HPO
ALBC0023890Liver Cirrhosis2CTD_human
ALBC0027726Nephrotic Syndrome2CTD_human
ALBC0036830Serum Sickness2CTD_human
ALBC0162557Liver Failure, Acute2CTD_human
ALBC4277682Chemical and Drug Induced Liver Injury2CTD_human
ALBC0002994Angioedema1CTD_human
ALBC0003460Anuria1CTD_human
ALBC0004509Azoospermia1CTD_human
ALBC0006111Brain Diseases1CTD_human
ALBC0007222Cardiovascular Diseases1CTD_human
ALBC0007786Brain Ischemia1CTD_human
ALBC0011581Depressive disorder1CTD_human
ALBC0011875Diabetic Angiopathies1CTD_human
ALBC0011881Diabetic Nephropathy1CTD_human
ALBC0013502Echinococcosis1CTD_human
ALBC0016059Fibrosis1CTD_human
ALBC0017662Glomerulonephritis, Membranoproliferative1CTD_human
ALBC0018799Heart Diseases1CTD_human
ALBC0018801Heart failure1CTD_human
ALBC0019061Hemolytic-Uremic Syndrome1CTD_human
ALBC0019158Hepatitis1CTD_human
ALBC0019693HIV Infections1CTD_human
ALBC0019699HIV Seropositivity1CTD_human
ALBC0020517Hypersensitivity1CTD_human
ALBC0020522Delayed Hypersensitivity1CTD_human
ALBC0020538Hypertensive disease1CTD_human
ALBC0022548Keloid1CTD_human
ALBC0022661Kidney Failure, Chronic1CTD_human
ALBC0026848Myopathy1CTD_human
ALBC0027055Myocardial Reperfusion Injury1CTD_human
ALBC0027720Nephrosis1CTD_human
ALBC0028797Occupational Diseases1CTD_human
ALBC0030193Pain1CTD_human
ALBC0030286Pancreatic Diseases1CTD_human
ALBC0030305Pancreatitis1CTD_human
ALBC0035222Respiratory Distress Syndrome, Adult1CTD_human
ALBC0035242Respiratory Tract Diseases1CTD_human
ALBC0035457Rhinitis, Allergic, Perennial1CTD_human
ALBC0038325Stevens-Johnson Syndrome1CTD_human
ALBC0038356Stomach Neoplasms1CTD_human
ALBC0040034Thrombocytopenia1CTD_human
ALBC0041755Adverse reaction to drug1CTD_human
ALBC0042109Urticaria1CTD_human
ALBC0042164Uveitis1CTD_human
ALBC0152013Adenocarcinoma of lung (disorder)1CTD_human
ALBC0239981Hypoalbuminemia1CTD_human;HPO
ALBC0993582Arthritis, Experimental1CTD_human