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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 RPSMAP, MSBB, and Mayo

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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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3'-UTR located exon skipping events lost miRNA binding sites

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SNVs in the skipped exons with depth of coverage

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AD stage-associated exon skipping events

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Splicing Quantitative Trait Loci (sQTLs) in the skipped exons

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Correlation with RNA binding proteins (RBPs)

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Related drugs with this gene

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Related diseases with this gene

Gene summary for BIRC6

check button Gene summary
Gene informationGene symbol

BIRC6

Gene ID

57448

Gene namebaculoviral IAP repeat containing 6
SynonymsAPOLLON|BRUCE
Cytomap

2p22.3

Type of geneprotein-coding
Descriptionbaculoviral IAP repeat-containing protein 6BIR repeat-containing ubiquitin-conjugating enzymeRING-type E3 ubiquitin transferase BIRC6ubiquitin-conjugating BIR-domain enzyme apollon
Modification date20200313
UniProtAcc

A0A3B3IUB9,

H7C094,

H7C3P0,

Q9NR09,

Context

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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Gene structures and expression levels for BIRC6

check buttonSkipped exons in the ROSMAP, MSBB, and Mayo 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

ENSG00000115760
check button Differentially expressed gene analysis across multiple brain tissues between AD and control.
Tissue typeDEG directionBase mean exp.log2FC(AD/control)P-valueAdj. p-value

check button Differentially expressed isoform analysis across multiple brain tissues between AD and control.
Tissue typeDEG directionENSTTranscript info.Base mean exp.log2FC(AD/control)P-valueAdjc. p-value

check button Landscape of isoform expressions across multiple brain tissues between AD and control.
gencode gene structure

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Exon skipping events with PSIs in ROSMAP, MSBB, and Mayo for BIRC6

check button Landscape of individual exon skipping event across AD tissues and controls (PSI heatmap).
boxplot

check button All exon skipping events in AD cohorts.
Exon skip IDchrExons involved in exon skippingSkipped exon
exon_skip_101732chr232433648:32433804:32435496:32435585:32436053:3243618432435496:32435585
exon_skip_102215chr232513079:32513154:32514990:32515770:32518254:3251839732514990:32515770
exon_skip_10706chr232479462:32479617:32481320:32481453:32482429:3248258232481320:32481453
exon_skip_107579chr232433650:32433804:32436053:32436184:32439508:3243968632436053:32436184
exon_skip_123765chr232388811:32388943:32392039:32392150:32395511:3239559332392039:32392150
exon_skip_126500chr232488588:32488714:32490041:32490151:32491425:3249155832490041:32490151
exon_skip_146150chr232603006:32603083:32607455:32607643:32611448:3261158132607455:32607643
exon_skip_189401chr232575291:32575366:32593915:32594060:32595034:3259514432593915:32594060
exon_skip_205545chr232433648:32433804:32436053:32436184:32439508:3243968632436053:32436184
exon_skip_209744chr232448795:32448928:32453808:32453942:32463194:3246328232453808:32453942
exon_skip_210401chr232477368:32477583:32478635:32478818:32479462:3247961732478635:32478818
exon_skip_219940chr232377588:32377769:32380153:32380290:32388750:3238894332380153:32380290
exon_skip_219947chr232597751:32597968:32599739:32599900:32603006:3260308332599739:32599900
exon_skip_222406chr232512933:32513154:32514990:32515770:32518254:3251839732514990:32515770
exon_skip_237149chr232448795:32448928:32453808:32453954:32463194:3246338132453808:32453954
exon_skip_263363chr232575291:32575366:32590806:32590978:32593915:3259404632590806:32590978
exon_skip_265055chr232485643:32485759:32487647:32487801:32488588:3248871432487647:32487801
exon_skip_270274chr232448795:32448928:32453808:32453954:32463194:3246328232453808:32453954
exon_skip_273033chr232471014:32471151:32473112:32473239:32476213:3247628132473112:32473239
exon_skip_27341chr232433650:32433804:32435496:32435585:32436053:3243618432435496:32435585
exon_skip_285615chr232593915:32594060:32595034:32595144:32597751:3259796832595034:32595144
exon_skip_295865chr232575291:32575366:32590806:32590978:32593915:3259406032590806:32590978
exon_skip_31323chr232401463:32401623:32406499:32406557:32414769:3241616332406499:32406557
exon_skip_32884chr232380153:32380290:32388750:32388943:32392039:3239215032388750:32388943
exon_skip_3318chr232443491:32443588:32445521:32445668:32448795:3244892832445521:32445668
exon_skip_35250chr232445521:32445668:32448795:32448928:32453808:3245394232448795:32448928
exon_skip_38894chr232401163:32401385:32401463:32401623:32406499:3240655732401463:32401623
exon_skip_39531chr232607455:32607643:32611448:32611582:32617725:3261887632611448:32611582
exon_skip_45980chr232463194:32463381:32464509:32464823:32465065:3246516432464509:32464823
exon_skip_50057chr232439508:32439686:32441329:32441462:32442065:3244222632441329:32441462
exon_skip_65599chr232493540:32493667:32499547:32500109:32501713:3250188832499547:32500109
exon_skip_71396chr232448795:32448928:32453808:32453942:32463194:3246338132453808:32453942
exon_skip_7834chr232401178:32401385:32401463:32401623:32406499:3240655732401463:32401623
exon_skip_79987chr232476213:32476344:32477368:32477583:32478635:3247881832477368:32477583
exon_skip_93860chr232507980:32508259:32509738:32509994:32510526:3251063432509738:32509994

check button Differentially expressed PSI values of individual exon skipping events in multiple brain tissues between AD and control.
Exon skipping informationTissue typeAvg(PSIs) in ADAvg(PSIs) in controlDifference (PSI)Adj. p-value


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Open reading frame (ORF) annotation in the exon skipping event for BIRC6

check button Open reading frame (ORF) of individual exon skipping events in ROSMAP based on the Ensembl gene structure combined from isoforms.
ENSTStart of skipped exonEnd of skipped exonORF
ENST000004217453238875032388943Frame-shift
ENST000004217453239203932392150Frame-shift
ENST000004217453240146332401623Frame-shift
ENST000004217453240649932406557Frame-shift
ENST000004217453244132932441462Frame-shift
ENST000004217453244552132445668Frame-shift
ENST000004217453244879532448928Frame-shift
ENST000004217453248764732487801Frame-shift
ENST000004217453251499032515770Frame-shift
ENST000004217453259391532594060Frame-shift
ENST000004217453238015332380290In-frame
ENST000004217453243549632435585In-frame
ENST000004217453245380832453942In-frame
ENST000004217453246450932464823In-frame
ENST000004217453247736832477583In-frame
ENST000004217453249004132490151In-frame
ENST000004217453259503432595144In-frame
ENST000004217453260745532607643In-frame
ENST000004217453261144832611582In-frame

check button Open reading frame (ORF) of individual exon skipping events in MSBB based on the Ensembl gene structure combined from isoforms.
ENSTStart of skipped exonEnd of skipped exonORF
ENST000004217453238875032388943Frame-shift
ENST000004217453239203932392150Frame-shift
ENST000004217453240146332401623Frame-shift
ENST000004217453240649932406557Frame-shift
ENST000004217453244132932441462Frame-shift
ENST000004217453244879532448928Frame-shift
ENST000004217453248764732487801Frame-shift
ENST000004217453249954732500109Frame-shift
ENST000004217453250973832509994Frame-shift
ENST000004217453251499032515770Frame-shift
ENST000004217453243549632435585In-frame
ENST000004217453245380832453942In-frame
ENST000004217453246450932464823In-frame
ENST000004217453247736832477583In-frame
ENST000004217453249004132490151In-frame
ENST000004217453259503432595144In-frame
ENST000004217453260745532607643In-frame

check button Open reading frame (ORF) of individual exon skipping events in Mayo based on the Ensembl gene structure combined from isoforms.
ENSTStart of skipped exonEnd of skipped exonORF
ENST000004217453238875032388943Frame-shift
ENST000004217453239203932392150Frame-shift
ENST000004217453240146332401623Frame-shift
ENST000004217453240649932406557Frame-shift
ENST000004217453244132932441462Frame-shift
ENST000004217453244879532448928Frame-shift
ENST000004217453247863532478818Frame-shift
ENST000004217453248132032481453Frame-shift
ENST000004217453248764732487801Frame-shift
ENST000004217453249954732500109Frame-shift
ENST000004217453250973832509994Frame-shift
ENST000004217453251499032515770Frame-shift
ENST000004217453259391532594060Frame-shift
ENST000004217453238015332380290In-frame
ENST000004217453243549632435585In-frame
ENST000004217453245380832453942In-frame
ENST000004217453246450932464823In-frame
ENST000004217453249004132490151In-frame
ENST000004217453259503432595144In-frame
ENST000004217453259973932599900In-frame
ENST000004217453260745532607643In-frame
ENST000004217453261144832611582In-frame

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Infer the effects of exon skipping event on protein functional features for BIRC6

p-ENSG00000115760_img4.png
boxplot

check button Loci of skipped exons in ROSMAP across genomic, transcript, and protein sequence levels of In-frame cases.
ENSTLength of mRNALength of AA seq.Genomic startGenomic endmRNA startmRNA endAA startAA end
ENST000004217451572048573238015332380290643779169215
ENST0000042174515720485732435496324355853545363311371166
ENST0000042174515720485732453808324539424754488715401584
ENST0000042174515720485732464509324648235077539016471752
ENST0000042174515720485732477368324775836988720222842356
ENST0000042174515720485732490041324901518231834026992735
ENST000004217451572048573259503432595144136371374645014537
ENST000004217451572048573260745532607643142061439346904753
ENST000004217451572048573261144832611582143951452847534798

check button Loci of skipped exons in MSBB across genomic, transcript, and protein sequence levels of In-frame cases.
ENSTLength of mRNALength of AA seq.Genomic startGenomic endmRNA startmRNA endAA startAA end
ENST0000042174515720485732435496324355853545363311371166
ENST0000042174515720485732453808324539424754488715401584
ENST0000042174515720485732464509324648235077539016471752
ENST0000042174515720485732477368324775836988720222842356
ENST0000042174515720485732490041324901518231834026992735
ENST000004217451572048573259503432595144136371374645014537
ENST000004217451572048573260745532607643142061439346904753

check button Loci of skipped exons in Mayo across genomic, transcript, and protein sequence levels of In-frame cases.
ENSTLength of mRNALength of AA seq.Genomic startGenomic endmRNA startmRNA endAA startAA end
ENST000004217451572048573238015332380290643779169215
ENST0000042174515720485732435496324355853545363311371166
ENST0000042174515720485732453808324539424754488715401584
ENST0000042174515720485732464509324648235077539016471752
ENST0000042174515720485732490041324901518231834026992735
ENST000004217451572048573259503432595144136371374645014537
ENST000004217451572048573259973932599900139661412646104664
ENST000004217451572048573260745532607643142061439346904753
ENST000004217451572048573261144832611582143951452847534798

check button Lost protein functional features of individual exon skipping events in ROSMAP.
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
Q9NR0916921514857ChainID=PRO_0000122361;Note=Baculoviral IAP repeat-containing protein 6
Q9NR091137116614857ChainID=PRO_0000122361;Note=Baculoviral IAP repeat-containing protein 6
Q9NR091540158414857ChainID=PRO_0000122361;Note=Baculoviral IAP repeat-containing protein 6
Q9NR091647175214857ChainID=PRO_0000122361;Note=Baculoviral IAP repeat-containing protein 6
Q9NR091647175216601668Compositional biasNote=Poly-Ala
Q9NR091647175217101710Modified residueNote=Phosphothreonine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:24275569;Dbxref=PMID:24275569
Q9NR092284235614857ChainID=PRO_0000122361;Note=Baculoviral IAP repeat-containing protein 6
Q9NR092284235623192319Sequence conflictNote=L->F;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q9NR092699273514857ChainID=PRO_0000122361;Note=Baculoviral IAP repeat-containing protein 6
Q9NR094501453745364540Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3CEG
Q9NR094501453714857ChainID=PRO_0000122361;Note=Baculoviral IAP repeat-containing protein 6
Q9NR094501453745244533HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3CEG
Q9NR094690475314857ChainID=PRO_0000122361;Note=Baculoviral IAP repeat-containing protein 6
Q9NR094690475346884698HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3CEG
Q9NR094690475347044707HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3CEG
Q9NR094690475347114714HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3CEG
Q9NR094690475347184738HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3CEG
Q9NR094690475347414745HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3CEG
Q9NR094690475347524777HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3CEG
Q9NR094690475345764704RegionNote=Ubiquitin-conjugating
Q9NR094690475347494751TurnOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3CEG
Q9NR094753479814857ChainID=PRO_0000122361;Note=Baculoviral IAP repeat-containing protein 6
Q9NR094753479847524777HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3CEG
Q9NR094753479847884810HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3CEG

check button Lost protein functional features of individual exon skipping events in MSBB.
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
Q9NR091137116614857ChainID=PRO_0000122361;Note=Baculoviral IAP repeat-containing protein 6
Q9NR091540158414857ChainID=PRO_0000122361;Note=Baculoviral IAP repeat-containing protein 6
Q9NR091647175214857ChainID=PRO_0000122361;Note=Baculoviral IAP repeat-containing protein 6
Q9NR091647175216601668Compositional biasNote=Poly-Ala
Q9NR091647175217101710Modified residueNote=Phosphothreonine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:24275569;Dbxref=PMID:24275569
Q9NR092284235614857ChainID=PRO_0000122361;Note=Baculoviral IAP repeat-containing protein 6
Q9NR092284235623192319Sequence conflictNote=L->F;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q9NR092699273514857ChainID=PRO_0000122361;Note=Baculoviral IAP repeat-containing protein 6
Q9NR094501453745364540Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3CEG
Q9NR094501453714857ChainID=PRO_0000122361;Note=Baculoviral IAP repeat-containing protein 6
Q9NR094501453745244533HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3CEG
Q9NR094690475314857ChainID=PRO_0000122361;Note=Baculoviral IAP repeat-containing protein 6
Q9NR094690475346884698HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3CEG
Q9NR094690475347044707HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3CEG
Q9NR094690475347114714HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3CEG
Q9NR094690475347184738HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3CEG
Q9NR094690475347414745HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3CEG
Q9NR094690475347524777HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3CEG
Q9NR094690475345764704RegionNote=Ubiquitin-conjugating
Q9NR094690475347494751TurnOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3CEG

check button Lost protein functional features of individual exon skipping events in Mayo.
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
Q9NR0916921514857ChainID=PRO_0000122361;Note=Baculoviral IAP repeat-containing protein 6
Q9NR091137116614857ChainID=PRO_0000122361;Note=Baculoviral IAP repeat-containing protein 6
Q9NR091540158414857ChainID=PRO_0000122361;Note=Baculoviral IAP repeat-containing protein 6
Q9NR091647175214857ChainID=PRO_0000122361;Note=Baculoviral IAP repeat-containing protein 6
Q9NR091647175216601668Compositional biasNote=Poly-Ala
Q9NR091647175217101710Modified residueNote=Phosphothreonine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:24275569;Dbxref=PMID:24275569
Q9NR092699273514857ChainID=PRO_0000122361;Note=Baculoviral IAP repeat-containing protein 6
Q9NR094501453745364540Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3CEG
Q9NR094501453714857ChainID=PRO_0000122361;Note=Baculoviral IAP repeat-containing protein 6
Q9NR094501453745244533HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3CEG
Q9NR094610466446254625Active siteNote=Glycyl thioester intermediate;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00388
Q9NR094610466446084615Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3CEG
Q9NR094610466446254631Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3CEG
Q9NR094610466446424645Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3CEG
Q9NR094610466414857ChainID=PRO_0000122361;Note=Baculoviral IAP repeat-containing protein 6
Q9NR094610466445764704RegionNote=Ubiquitin-conjugating
Q9NR094610466446344638TurnOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3CEG
Q9NR094610466446494652TurnOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3CEG
Q9NR094690475314857ChainID=PRO_0000122361;Note=Baculoviral IAP repeat-containing protein 6
Q9NR094690475346884698HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3CEG
Q9NR094690475347044707HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3CEG
Q9NR094690475347114714HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3CEG
Q9NR094690475347184738HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3CEG
Q9NR094690475347414745HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3CEG
Q9NR094690475347524777HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3CEG
Q9NR094690475345764704RegionNote=Ubiquitin-conjugating
Q9NR094690475347494751TurnOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3CEG
Q9NR094753479814857ChainID=PRO_0000122361;Note=Baculoviral IAP repeat-containing protein 6
Q9NR094753479847524777HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3CEG
Q9NR094753479847884810HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3CEG


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3'-UTR located exon skipping events that lost miRNA binding sites in BIRC6

check button 3'-UTR exon skipping evnets lost miRNA binding.
Tissue typeENSTExon skip startExon skip endmicroRNABinding site by TargetScanBinding type by TargetScanBdinding site by miRandaScore of miRandaEnergy by miRanda

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SNVs in the skipped exons for BIRC6

check button - Differential PSIs between mutated versus non-mutated samples.

check button - Depth of Coverage in the skipped exon of the mutated samples.

check button - Sashimi plot in the skipped exon of the mutated samples.

check button - Non-synonymous mutations located in the skipped exons.
Cancer typeSampleESIDSkipped exon startSkipped exon endMutation startMutation endMutation typeReference seqMutation seqAAchange

check button - Non-synonymous mutations located in the skipped exons in CCLE.
SampleSkipped exon startSkipped exon endMutation startMutation endMutation typeReference seqMutation seqAAchange

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AD stage-associated exon skippint events for BIRC6

check button Associated exon skipping events with Braak staging or Clinical Dementia Rating (CDR).
AD stage infoCohortTissueSE idCoefficient P-valueChromosomeStrandE1 startE1 endSkipped startSkipped endE2 startE2 end
ADstageMSBBIFGexon_skip_126500-3.977233e-013.608644e-02chr2+324885883248871432490041324901513249142532491558

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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for BIRC6

check button sQTL information located at the skipped exons.
Tissue typeExon skip IDSNP idLocationP-valueFDR

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Correlation with RNA binding proteins (RBPs) for BIRC6

check button Correlated RBP and related information.
Tissue typeRBP nameExon skip IDCorrelation coeifficientP-value
CBDAZAP1exon_skip_265055-5.113591e-015.065960e-10
CBELAVL1exon_skip_265055-4.718995e-011.447857e-08
CBU2AF2exon_skip_265055-5.974562e-016.206573e-14
CBPCBP1exon_skip_265055-4.638928e-012.718492e-08
CBRC3H1exon_skip_265055-4.659529e-012.315256e-08
CBFUBP1exon_skip_265055-5.151111e-013.600211e-10
CBKHSRPexon_skip_265055-5.049662e-018.980351e-10
CBHNRNPCexon_skip_265055-5.129615e-014.380577e-10
CBPTBP1exon_skip_265055-4.207059e-016.236786e-07
CBHNRNPFexon_skip_265055-4.913856e-012.915824e-09
IFGZC3H10exon_skip_2958654.203406e-013.250949e-02
STGRBM3exon_skip_295865-4.002661e-012.822916e-04

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RelatedDrugs for BIRC6

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

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RelatedDiseases for BIRC6

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