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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 BAG6

check button Gene summary
Gene informationGene symbol

BAG6

Gene ID

7917

Gene nameBCL2 associated athanogene 6
SynonymsBAG-6|BAT3|D6S52E|G3
Cytomap

6p21.33

Type of geneprotein-coding
Descriptionlarge proline-rich protein BAG6BAG family molecular chaperone regulator 6HLA-B-associated transcript 3large proline-rich protein BAT3protein G3protein Scythescythe
Modification date20180523
UniProtAcc

P46379

ContextPubMed: BAG6 [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
BAG6

GO:0002429

immune response-activating cell surface receptor signaling pathway

18852879

BAG6

GO:0006915

apoptotic process

14960581

BAG6

GO:0018393

internal peptidyl-lysine acetylation

17403783

BAG6

GO:0030101

natural killer cell activation

18852879

BAG6

GO:0030433

ubiquitin-dependent ERAD pathway

23129660|24981174

BAG6

GO:0071712

ER-associated misfolded protein catabolic process

23129660|24981174

BAG6

GO:0071816

tail-anchored membrane protein insertion into ER membrane

20676083


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Exon skipping events across known transcript of Ensembl for BAG6 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 BAG6

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 BAG6

check button Information of exkip skipping event in TCGA.
Exon skip IDchrExons involved in exon skippingSkipped exonENSGENSTs
exon_skip_457614631606817:31607003:31607276:31607423:31607975:3160805931607276:31607423ENSG00000204463.8ENST00000375976.4,ENST00000404765.2,ENST00000375964.6,ENST00000211379.5,ENST00000464126.1
exon_skip_457623631607975:31608083:31608161:31608305:31608421:3160846931608161:31608305ENSG00000204463.8ENST00000375976.4,ENST00000404765.2,ENST00000375964.6,ENST00000211379.5,ENST00000441793.1,ENST00000362049.6
exon_skip_457628631607975:31608083:31608421:31608481:31608568:3160871431608421:31608481ENSG00000204463.8ENST00000439687.2,ENST00000422948.1
exon_skip_457636631608161:31608305:31608421:31608481:31608568:3160871431608421:31608481ENSG00000204463.8ENST00000375976.4,ENST00000404765.2,ENST00000375964.6,ENST00000211379.5,ENST00000441793.1,ENST00000362049.6
exon_skip_457639631608421:31608481:31608568:31608715:31608880:3160900531608568:31608715ENSG00000204463.8ENST00000375976.4,ENST00000404765.2,ENST00000375964.6,ENST00000211379.5,ENST00000441793.1,ENST00000439687.2,ENST00000362049.6
exon_skip_457641631608568:31608715:31608880:31609005:31609096:3160919931608880:31609005ENSG00000204463.8ENST00000375976.4,ENST00000404765.2,ENST00000375964.6,ENST00000211379.5,ENST00000439687.2,ENST00000362049.6
exon_skip_457643631609995:31610180:31610605:31610892:31611666:3161175131610605:31610892ENSG00000204463.8ENST00000375976.4,ENST00000470875.1,ENST00000404765.2,ENST00000437771.1,ENST00000375964.6,ENST00000211379.5,ENST00000362049.6
exon_skip_457644631610889:31610892:31611666:31611751:31611858:3161197131611666:31611751ENSG00000204463.8ENST00000439687.2
exon_skip_457645631610889:31610892:31611666:31611754:31611858:3161197131611666:31611754ENSG00000204463.8ENST00000375976.4,ENST00000465348.1,ENST00000470875.1,ENST00000404765.2,ENST00000437771.1,ENST00000375964.6,ENST00000211379.5,ENST00000453833.1,ENST00000362049.6,ENST00000438149.1
exon_skip_457646631610889:31610892:31611666:31611754:31612722:3161284631611666:31611754ENSG00000204463.8ENST00000469182.1
exon_skip_457650631611666:31611754:31611858:31611971:31612301:3161237931611858:31611971ENSG00000204463.8ENST00000375976.4,ENST00000375964.6,ENST00000211379.5,ENST00000362049.6,ENST00000438149.1
exon_skip_457651631611666:31611754:31611858:31611971:31612722:3161283431611858:31611971ENSG00000204463.8ENST00000453833.1
exon_skip_457666631611858:31611971:31612083:31612191:31612301:3161237931612083:31612191ENSG00000204463.8ENST00000404765.2,ENST00000437771.1
exon_skip_457672631611858:31611971:31612301:31612379:31612722:3161283431612301:31612379ENSG00000204463.8ENST00000375976.4,ENST00000375964.6,ENST00000211379.5,ENST00000439687.2,ENST00000362049.6
exon_skip_457673631611858:31611971:31612301:31612406:31612722:3161283431612301:31612406ENSG00000204463.8ENST00000438149.1
exon_skip_457679631612093:31612191:31612301:31612379:31612722:3161284631612301:31612379ENSG00000204463.8ENST00000404765.2,ENST00000437771.1,ENST00000435080.1
exon_skip_457683631614170:31614300:31615367:31615603:31616453:3161652831615367:31615603ENSG00000204463.8ENST00000375976.4,ENST00000404765.2,ENST00000437771.1,ENST00000211379.5,ENST00000439687.2,ENST00000435080.1,ENST00000362049.6
exon_skip_457684631614170:31614300:31615367:31615621:31616453:3161652831615367:31615621ENSG00000204463.8ENST00000375964.6
exon_skip_457689631616453:31616528:31616687:31616741:31616975:3161717231616687:31616741ENSG00000204463.8ENST00000375976.4,ENST00000404765.2,ENST00000456286.1,ENST00000437771.1,ENST00000375964.6,ENST00000211379.5,ENST00000452994.1,ENST00000428326.1,ENST00000424480.1,ENST00000439687.2,ENST00000435080.1,ENST00000433828.1,ENST00000362049.6
exon_skip_457691631617286:31617404:31619432:31619553:31620023:3162013531619432:31619553ENSG00000204463.8ENST00000375976.4,ENST00000456622.1

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

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Exon skipping events with PSIs in GTEx for BAG6

check button Information of exkip skipping event in GTEx
Exon skip IDchrExons involved in exon skippingSkipped exonENSGENSTs
exon_skip_457614631606817:31607003:31607276:31607423:31607975:3160805931607276:31607423ENSG00000204463.8ENST00000464126.1,ENST00000375976.4,ENST00000211379.5,ENST00000404765.2,ENST00000375964.6
exon_skip_457623631607975:31608083:31608161:31608305:31608421:3160846931608161:31608305ENSG00000204463.8ENST00000441793.1,ENST00000375976.4,ENST00000211379.5,ENST00000404765.2,ENST00000375964.6,ENST00000362049.6
exon_skip_457628631607975:31608083:31608421:31608481:31608568:3160871431608421:31608481ENSG00000204463.8ENST00000422948.1,ENST00000439687.2
exon_skip_457636631608161:31608305:31608421:31608481:31608568:3160871431608421:31608481ENSG00000204463.8ENST00000441793.1,ENST00000375976.4,ENST00000211379.5,ENST00000404765.2,ENST00000375964.6,ENST00000362049.6
exon_skip_457639631608421:31608481:31608568:31608715:31608880:3160900531608568:31608715ENSG00000204463.8ENST00000441793.1,ENST00000375976.4,ENST00000211379.5,ENST00000404765.2,ENST00000375964.6,ENST00000439687.2,ENST00000362049.6
exon_skip_457641631608568:31608715:31608880:31609005:31609096:3160919931608880:31609005ENSG00000204463.8ENST00000375976.4,ENST00000211379.5,ENST00000404765.2,ENST00000375964.6,ENST00000439687.2,ENST00000362049.6
exon_skip_457643631609995:31610180:31610605:31610892:31611666:3161175131610605:31610892ENSG00000204463.8ENST00000375976.4,ENST00000211379.5,ENST00000404765.2,ENST00000375964.6,ENST00000362049.6,ENST00000470875.1,ENST00000437771.1
exon_skip_457644631610889:31610892:31611666:31611751:31611858:3161197131611666:31611751ENSG00000204463.8ENST00000439687.2
exon_skip_457645631610889:31610892:31611666:31611754:31611858:3161197131611666:31611754ENSG00000204463.8ENST00000375976.4,ENST00000211379.5,ENST00000404765.2,ENST00000375964.6,ENST00000362049.6,ENST00000470875.1,ENST00000437771.1,ENST00000465348.1,ENST00000438149.1,ENST00000453833.1
exon_skip_457646631610889:31610892:31611666:31611754:31612722:3161284631611666:31611754ENSG00000204463.8ENST00000469182.1
exon_skip_457650631611666:31611754:31611858:31611971:31612301:3161237931611858:31611971ENSG00000204463.8ENST00000375976.4,ENST00000211379.5,ENST00000375964.6,ENST00000362049.6,ENST00000438149.1
exon_skip_457651631611666:31611754:31611858:31611971:31612722:3161283431611858:31611971ENSG00000204463.8ENST00000453833.1
exon_skip_457666631611858:31611971:31612083:31612191:31612301:3161237931612083:31612191ENSG00000204463.8ENST00000404765.2,ENST00000437771.1
exon_skip_457672631611858:31611971:31612301:31612379:31612722:3161283431612301:31612379ENSG00000204463.8ENST00000375976.4,ENST00000211379.5,ENST00000375964.6,ENST00000439687.2,ENST00000362049.6
exon_skip_457673631611858:31611971:31612301:31612406:31612722:3161283431612301:31612406ENSG00000204463.8ENST00000438149.1
exon_skip_457679631612093:31612191:31612301:31612379:31612722:3161284631612301:31612379ENSG00000204463.8ENST00000404765.2,ENST00000437771.1,ENST00000435080.1
exon_skip_457683631614170:31614300:31615367:31615603:31616453:3161652831615367:31615603ENSG00000204463.8ENST00000375976.4,ENST00000211379.5,ENST00000404765.2,ENST00000439687.2,ENST00000362049.6,ENST00000437771.1,ENST00000435080.1
exon_skip_457684631614170:31614300:31615367:31615621:31616453:3161652831615367:31615621ENSG00000204463.8ENST00000375964.6
exon_skip_457689631616453:31616528:31616687:31616741:31616975:3161717231616687:31616741ENSG00000204463.8ENST00000375976.4,ENST00000211379.5,ENST00000404765.2,ENST00000375964.6,ENST00000439687.2,ENST00000362049.6,ENST00000437771.1,ENST00000435080.1,ENST00000452994.1,ENST00000428326.1,ENST00000433828.1,ENST00000424480.1,ENST00000456286.1
exon_skip_457691631617286:31617404:31619432:31619553:31620023:3162013531619432:31619553ENSG00000204463.8ENST00000375976.4,ENST00000456622.1

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 BAG6

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

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

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Infer the effects of exon skipping event on protein functional features for BAG6

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 BAG6

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
COADTCGA-AA-3663-01exon_skip_457639
31608569316087153160857131608571Frame_Shift_DelG-p.Q942fs
STADTCGA-D7-A4YY-01exon_skip_457639
31608569316087153160857131608571Frame_Shift_DelG-p.Q948fs
LIHCTCGA-DD-A1EG-01exon_skip_457639
31608569316087153160858631608586Frame_Shift_DelC-p.V973fs
LIHCTCGA-DD-A3A0-01exon_skip_457683
31615368316156033161538631615386Frame_Shift_DelG-p.P257fs
LIHCTCGA-DD-A3A0-01exon_skip_457684
31615368316156213161538631615386Frame_Shift_DelG-p.P257fs
ACCTCGA-OR-A5LJ-01exon_skip_457684
31615368316156213161561631615617Frame_Shift_DelGA-p.186_187del
ACCTCGA-OR-A5LJ-01exon_skip_457684
31615368316156213161561631615617Frame_Shift_DelGA-p.L186fs
COADTCGA-CK-5916-01exon_skip_457691
31619433316195533161943831619438Frame_Shift_DelC-p.A35fs
LIHCTCGA-DD-A1EG-01exon_skip_457691
31619433316195533161943831619438Frame_Shift_DelC-p.A35fs
HNSCTCGA-BA-6870-01exon_skip_457643
31610606316108923161075331610754Frame_Shift_Ins-Ap.S632fs
PRADTCGA-XK-AAIW-01exon_skip_457623
31608162316083053160818031608180Nonsense_MutationCTp.W1040*

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
CTV1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE31612302316123793161233231612332Frame_Shift_DelG-p.L479fs
CTV1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE31612302316124063161233231612332Frame_Shift_DelG-p.L479fs
JURKAT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE31615368316156033161538631615386Frame_Shift_DelG-p.P263fs
JURKAT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE31615368316156213161538631615386Frame_Shift_DelG-p.P263fs
CTV1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE31607277316074233160735931607359Missense_MutationGAp.A1074V
MDAMB361_BREAST31607277316074233160738731607387Missense_MutationCGp.E1065Q
KARPAS45_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE31608162316083053160816431608164Missense_MutationGAp.P1016S
LN405_CENTRAL_NERVOUS_SYSTEM31608162316083053160822031608220Missense_MutationCTp.R997Q
HEC1_ENDOMETRIUM31608422316084813160843331608433Missense_MutationGTp.P965T
SNU1040_LARGE_INTESTINE31608569316087153160864431608644Missense_MutationCAp.Q923H
SUPT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE31608569316087153160870531608705Missense_MutationGTp.S903Y
MOLT4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE31608881316090053160897231608972Missense_MutationCTp.C869Y
SKNAS_AUTONOMIC_GANGLIA31610606316108923161075431610754Missense_MutationAGp.M602T
SKUT1_SOFT_TISSUE31610606316108923161084231610842Missense_MutationCTp.A573T
DG75_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE31610606316108923161086031610860Missense_MutationCTp.A567T
GMS10_CENTRAL_NERVOUS_SYSTEM31610606316108923161087731610877Missense_MutationCTp.G561D
NCIH1355_LUNG31611667316117543161174531611745Missense_MutationCTp.G530S
NCIH1355_LUNG31611667316117513161174531611745Missense_MutationCTp.G530S
JHUEM7_ENDOMETRIUM31612302316123793161231731612317Missense_MutationGTp.H484N
JHUEM7_ENDOMETRIUM31612302316124063161231731612317Missense_MutationGTp.H484N
HEC1A_ENDOMETRIUM31612302316123793161235231612352Missense_MutationGAp.P472L
HEC1A_ENDOMETRIUM31612302316124063161235231612352Missense_MutationGAp.P472L
HEC1_ENDOMETRIUM31612302316123793161235231612352Missense_MutationGAp.P472L
HEC1_ENDOMETRIUM31612302316124063161235231612352Missense_MutationGAp.P472L
HEC1B_ENDOMETRIUM31612302316123793161235231612352Missense_MutationGAp.P472L
HEC1B_ENDOMETRIUM31612302316124063161235231612352Missense_MutationGAp.P472L
HEC1A_ENDOMETRIUM31615368316156033161542631615426Missense_MutationGAp.L250F
HEC1A_ENDOMETRIUM31615368316156213161542631615426Missense_MutationGAp.L250F
HEC1_ENDOMETRIUM31615368316156033161542631615426Missense_MutationGAp.L250F
HEC1_ENDOMETRIUM31615368316156213161542631615426Missense_MutationGAp.L250F
HEC1B_ENDOMETRIUM31615368316156033161542631615426Missense_MutationGAp.L250F
HEC1B_ENDOMETRIUM31615368316156213161542631615426Missense_MutationGAp.L250F
REH_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE31615368316156033161545431615454Missense_MutationCAp.E240D
REH_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE31615368316156213161545431615454Missense_MutationCAp.E240D
SW684_SOFT_TISSUE31615368316156033161548531615486Missense_MutationGGAAp.P230F
SW684_SOFT_TISSUE31615368316156213161548531615486Missense_MutationGGAAp.P230F
MOLT4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE31615368316156033161549131615491Missense_MutationGAp.A228V
MOLT4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE31615368316156213161549131615491Missense_MutationGAp.A228V
OCILY132_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE31615368316156033161552731615527Missense_MutationAGp.L216S
OCILY132_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE31615368316156213161552731615527Missense_MutationAGp.L216S
LS411N_LARGE_INTESTINE31615368316156033161554231615542Missense_MutationGAp.P211L
LS411N_LARGE_INTESTINE31615368316156213161554231615542Missense_MutationGAp.P211L
SW48_LARGE_INTESTINE31616688316167413161673431616734Missense_MutationCTp.G144D
HCC78_LUNG31607277316074233160729731607297Nonsense_MutationGAp.Q1095*
AU565_BREAST31607277316074233160738931607389Nonsense_MutationGCp.S1064*
SKBR3_BREAST31607277316074233160738931607389Nonsense_MutationGCp.S1064*
CTV1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE31610606316108923161060831610608Nonsense_MutationGAp.Q651*
MOLT3_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE31610606316108923161089031610890Nonsense_MutationGAp.Q557*
HEC59_ENDOMETRIUM31607277316074233160727831607278Splice_SiteTCp.Q1101R
MOLT4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE31608162316083053160816331608163Splice_SiteG-p.P1016fs
GP2D_LARGE_INTESTINE31608162316083053160830531608305Splice_SiteGAp.R969W
GP5D_LARGE_INTESTINE31608162316083053160830531608305Splice_SiteGAp.R969W
DND41_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE31608569316087153160857031608571Splice_Site-Gp.Q948fs
SNU1040_LARGE_INTESTINE31608569316087153160871531608715Splice_SiteGAp.R900C
MOLT3_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE31611859316119713161185931611859Splice_SiteCTp.L526L

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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for BAG6

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 BAG6


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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for BAG6


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RelatedDrugs for BAG6

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 BAG6

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