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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 ARID4B

check button Gene summary
Gene informationGene symbol

ARID4B

Gene ID

51742

Gene nameAT-rich interaction domain 4B
SynonymsBCAA|BRCAA1|RBBP1L1|RBP1L1|SAP180
Cytomap

1q42.3

Type of geneprotein-coding
DescriptionAT-rich interactive domain-containing protein 4B180 kDa Sin3-associated polypeptideARID domain-containing protein 4BAT rich interactive domain 4B (RBP1-like)Rb-binding protein homologSIN3A-associated protein 180breast cancer-associated antigen 1bre
Modification date20180523
UniProtAcc

Q4LE39

ContextPubMed: ARID4B [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 ARID4B 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 ARID4B

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 ARID4B

check button Information of exkip skipping event in TCGA.
Exon skip IDchrExons involved in exon skippingSkipped exonENSGENSTs
exon_skip_382461235331858:235331967:235335932:235336079:235338498:235338714235335932:235336079ENSG00000054267.16ENST00000474953.1,ENST00000366603.2,ENST00000349213.3,ENST00000421364.1,ENST00000264183.3
exon_skip_382501235338498:235338714:235340062:235340218:235341114:235341228235340062:235340218ENSG00000054267.16ENST00000421364.1
exon_skip_382541235338498:235338714:235341114:235341228:235344899:235345180235341114:235341228ENSG00000054267.16ENST00000474953.1,ENST00000366603.2,ENST00000349213.3,ENST00000264183.3
exon_skip_382561235341170:235341228:235344385:235344499:235344899:235345180235344385:235344499ENSG00000054267.16ENST00000494543.1
exon_skip_382571235344899:235346108:235357327:235357526:235359345:235359430235357327:235357526ENSG00000054267.16ENST00000366603.2,ENST00000349213.3,ENST00000421364.1,ENST00000471257.1,ENST00000264183.3,ENST00000491632.1,ENST00000444620.1
exon_skip_382581235359345:235359430:235377083:235377341:235383107:235383283235377083:235377341ENSG00000054267.16ENST00000366603.2,ENST00000421364.1,ENST00000471257.1,ENST00000264183.3
exon_skip_382591235392545:235392700:235394427:235394504:235397727:235397807235394427:235394504ENSG00000054267.16ENST00000366603.2,ENST00000349213.3,ENST00000421364.1,ENST00000471257.1,ENST00000466653.1,ENST00000264183.3,ENST00000418304.1,ENST00000491632.1
exon_skip_382601235394427:235394504:235397727:235397807:235403627:235403766235397727:235397807ENSG00000054267.16ENST00000366603.2,ENST00000349213.3,ENST00000421364.1,ENST00000466653.1,ENST00000264183.3,ENST00000418304.1,ENST00000491632.1
exon_skip_382611235397727:235397807:235403627:235403766:235409734:235409826235403627:235403766ENSG00000054267.16ENST00000366603.2,ENST00000349213.3,ENST00000421364.1,ENST00000466653.1,ENST00000264183.3,ENST00000418304.1,ENST00000491632.1
exon_skip_382631235416044:235416124:235418974:235419065:235420474:235420540235418974:235419065ENSG00000054267.16ENST00000366603.2,ENST00000349213.3,ENST00000421364.1,ENST00000466653.1,ENST00000264183.3,ENST00000418304.1,ENST00000491632.1
exon_skip_382651235418974:235419065:235420474:235420540:235423956:235424067235420474:235420540ENSG00000054267.16ENST00000366603.2,ENST00000349213.3,ENST00000421364.1,ENST00000466653.1,ENST00000264183.3,ENST00000418304.1,ENST00000491632.1

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

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Exon skipping events with PSIs in GTEx for ARID4B

check button Information of exkip skipping event in GTEx
Exon skip IDchrExons involved in exon skippingSkipped exonENSGENSTs
exon_skip_382461235331858:235331967:235335932:235336079:235338498:235338714235335932:235336079ENSG00000054267.16ENST00000474953.1,ENST00000349213.3,ENST00000366603.2,ENST00000264183.3,ENST00000421364.1
exon_skip_382501235338498:235338714:235340062:235340218:235341114:235341228235340062:235340218ENSG00000054267.16ENST00000421364.1
exon_skip_382541235338498:235338714:235341114:235341228:235344899:235345180235341114:235341228ENSG00000054267.16ENST00000474953.1,ENST00000349213.3,ENST00000366603.2,ENST00000264183.3
exon_skip_382561235341170:235341228:235344385:235344499:235344899:235345180235344385:235344499ENSG00000054267.16ENST00000494543.1
exon_skip_382571235344899:235346108:235357327:235357526:235359345:235359430235357327:235357526ENSG00000054267.16ENST00000349213.3,ENST00000366603.2,ENST00000264183.3,ENST00000421364.1,ENST00000491632.1,ENST00000444620.1,ENST00000471257.1
exon_skip_382581235359345:235359430:235377083:235377341:235383107:235383283235377083:235377341ENSG00000054267.16ENST00000366603.2,ENST00000264183.3,ENST00000421364.1,ENST00000471257.1
exon_skip_382591235392545:235392700:235394427:235394504:235397727:235397807235394427:235394504ENSG00000054267.16ENST00000349213.3,ENST00000366603.2,ENST00000264183.3,ENST00000421364.1,ENST00000491632.1,ENST00000471257.1,ENST00000418304.1,ENST00000466653.1
exon_skip_382601235394427:235394504:235397727:235397807:235403627:235403766235397727:235397807ENSG00000054267.16ENST00000349213.3,ENST00000366603.2,ENST00000264183.3,ENST00000421364.1,ENST00000491632.1,ENST00000418304.1,ENST00000466653.1
exon_skip_382611235397727:235397807:235403627:235403766:235409734:235409826235403627:235403766ENSG00000054267.16ENST00000349213.3,ENST00000366603.2,ENST00000264183.3,ENST00000421364.1,ENST00000491632.1,ENST00000418304.1,ENST00000466653.1
exon_skip_382631235416044:235416124:235418974:235419065:235420474:235420540235418974:235419065ENSG00000054267.16ENST00000349213.3,ENST00000366603.2,ENST00000264183.3,ENST00000421364.1,ENST00000491632.1,ENST00000418304.1,ENST00000466653.1
exon_skip_382651235418974:235419065:235420474:235420540:235423956:235424067235420474:235420540ENSG00000054267.16ENST00000349213.3,ENST00000366603.2,ENST00000264183.3,ENST00000421364.1,ENST00000491632.1,ENST00000418304.1,ENST00000466653.1

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 ARID4B

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
ENST00000264183235357327235357526Frame-shift
ENST00000366603235357327235357526Frame-shift
ENST00000264183235394427235394504Frame-shift
ENST00000366603235394427235394504Frame-shift
ENST00000264183235397727235397807Frame-shift
ENST00000366603235397727235397807Frame-shift
ENST00000264183235403627235403766Frame-shift
ENST00000366603235403627235403766Frame-shift
ENST00000264183235418974235419065Frame-shift
ENST00000366603235418974235419065Frame-shift
ENST00000264183235335932235336079In-frame
ENST00000366603235335932235336079In-frame
ENST00000264183235341114235341228In-frame
ENST00000366603235341114235341228In-frame
ENST00000264183235377083235377341In-frame
ENST00000366603235377083235377341In-frame
ENST00000264183235420474235420540In-frame
ENST00000366603235420474235420540In-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
ENST00000264183235357327235357526Frame-shift
ENST00000366603235357327235357526Frame-shift
ENST00000264183235394427235394504Frame-shift
ENST00000366603235394427235394504Frame-shift
ENST00000264183235397727235397807Frame-shift
ENST00000366603235397727235397807Frame-shift
ENST00000264183235403627235403766Frame-shift
ENST00000366603235403627235403766Frame-shift
ENST00000264183235418974235419065Frame-shift
ENST00000366603235418974235419065Frame-shift
ENST00000264183235335932235336079In-frame
ENST00000366603235335932235336079In-frame
ENST00000264183235341114235341228In-frame
ENST00000366603235341114235341228In-frame
ENST00000264183235377083235377341In-frame
ENST00000366603235377083235377341In-frame
ENST00000264183235420474235420540In-frame
ENST00000366603235420474235420540In-frame

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Infer the effects of exon skipping event on protein functional features for ARID4B

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
ENST00000264183608413122354204742354205406166813961
ENST00000366603596313122354204742354205404955603961
ENST000002641836084131223537708323537734120822339528613
ENST000003666035963131223537708323537734119612218528613
ENST00000264183608413122353411142353412283833394611111149
ENST00000366603596313122353411142353412283712382511111149
ENST00000264183608413122353359322353360794163430912211270
ENST00000366603596313122353359322353360794042418812211270

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
ENST00000264183608413122354204742354205406166813961
ENST00000366603596313122354204742354205404955603961
ENST000002641836084131223537708323537734120822339528613
ENST000003666035963131223537708323537734119612218528613
ENST00000264183608413122353411142353412283833394611111149
ENST00000366603596313122353411142353412283712382511111149
ENST00000264183608413122353359322353360794163430912211270
ENST00000366603596313122353359322353360794042418812211270

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 ARID4B

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
UCECTCGA-A5-A0GH-01exon_skip_38246
235335933235336079235335991235335991Frame_Shift_DelT-p.K1251fs
UCECTCGA-B5-A0JZ-01exon_skip_38254
235341115235341228235341129235341129Frame_Shift_DelT-p.K1145fs
LIHCTCGA-DD-A39Y-01exon_skip_38257
235357328235357526235357477235357477Frame_Shift_DelT-p.N659fs
LIHCTCGA-G3-A3CJ-01exon_skip_38257
235357328235357526235357477235357477Frame_Shift_DelT-p.N659fs
LIHCTCGA-DD-A3A0-01exon_skip_38258
235377084235377341235377115235377115Frame_Shift_DelA-p.Y604fs
LIHCTCGA-G3-A3CJ-01exon_skip_38259
235394428235394504235394451235394451Frame_Shift_DelT-p.K240fs
KIRCTCGA-B2-3924-01exon_skip_38265
235420475235420540235420512235420512Frame_Shift_DelA-p.V49fs
LIHCTCGA-BC-A112-01exon_skip_38246
235335933235336079235335942235335943Frame_Shift_Ins-Tp.E1268fs
COADTCGA-AA-3713-01exon_skip_38257
235357328235357526235357476235357477Frame_Shift_Ins-Tp.N573fs
STADTCGA-HU-A4GT-01exon_skip_38257
235357328235357526235357476235357477Frame_Shift_Ins-Tp.N659fs
STADTCGA-HU-A4GT-01exon_skip_38257
235357328235357526235357477235357478Frame_Shift_Ins-Tp.N659fs
UCECTCGA-D1-A17Q-01exon_skip_38257
235357328235357526235357358235357358Nonsense_MutationCAp.E699*
LUADTCGA-05-5428-01exon_skip_38258
235377084235377341235377133235377133Nonsense_MutationCAp.E598*
ACCTCGA-OR-A5JV-01exon_skip_38258
235377084235377341235377221235377221Nonsense_MutationGTp.C568*
UCECTCGA-B5-A11E-01exon_skip_38258
235377084235377341235377221235377221Nonsense_MutationGTp.C568*
STADTCGA-VQ-A8P2-01exon_skip_38260
235397728235397807235397750235397750Nonsense_MutationGAp.R215*
BLCATCGA-BT-A0YX-01exon_skip_38257
235357328235357526235357527235357527Splice_SiteCGp.N643_splice
COADTCGA-F4-6856-01exon_skip_38259
235394428235394504235394506235394507Splice_SiteTA-.
STADTCGA-CG-4442-01exon_skip_38259
235394428235394504235394506235394507Splice_SiteTA-.
STADTCGA-CG-4442-01exon_skip_38259
235394428235394504235394506235394507Splice_SiteTA-p.F222_splice
LUADTCGA-05-5428-01exon_skip_38263
235418975235419065235418974235418975Splice_SiteCCAAp.V92_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
REH_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE235357328235357526235357477235357477Frame_Shift_DelT-p.N659fs
JURKAT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE235397728235397807235397767235397767Frame_Shift_DelT-p.K209fs
EN_ENDOMETRIUM235341115235341228235341170235341171Frame_Shift_Ins-Tp.K1131fs
CL34_LARGE_INTESTINE235357328235357526235357476235357477Frame_Shift_Ins-Tp.N659fs
EN_ENDOMETRIUM235357328235357526235357476235357477Frame_Shift_Ins-Tp.N659fs
BC3C_URINARY_TRACT235357328235357526235357476235357477Frame_Shift_Ins-Tp.N659fs
CI1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE235357328235357526235357476235357477Frame_Shift_Ins-Tp.N659fs
EPLC272H_LUNG235357328235357526235357476235357477Frame_Shift_Ins-Tp.N659fs
HDMYZ_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE235357328235357526235357476235357477Frame_Shift_Ins-Tp.N659fs
HS616T_FIBROBLAST235357328235357526235357476235357477Frame_Shift_Ins-Tp.N659fs
MELJUSO_SKIN235357328235357526235357476235357477Frame_Shift_Ins-Tp.N659fs
MORCPR_LUNG235357328235357526235357476235357477Frame_Shift_Ins-Tp.N659fs
NCIH2444_LUNG235357328235357526235357476235357477Frame_Shift_Ins-Tp.N659fs
U937_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE235357328235357526235357476235357477Frame_Shift_Ins-Tp.N659fs
UACC62_SKIN235377084235377341235377165235377166Frame_Shift_Ins-Tp.M587fs
BICR18_UPPER_AERODIGESTIVE_TRACT235377084235377341235377276235377277Frame_Shift_Ins-Cp.E550fs
WM2664_SKIN235335933235336079235336003235336005In_Frame_DelATA-p.Y1247del
SKUT1_SOFT_TISSUE235341115235341228235341148235341148Missense_MutationTCp.T1139A
BICR18_UPPER_AERODIGESTIVE_TRACT235341115235341228235341189235341189Missense_MutationCAp.G1125V
BICR18_UPPER_AERODIGESTIVE_TRACT235341115235341228235341199235341199Missense_MutationCTp.A1122T
HS606T_FIBROBLAST235357328235357526235357462235357462Missense_MutationCTp.R664H
VMRCLCD_LUNG235357328235357526235357477235357477Missense_MutationTCp.N659S
SKUT1_SOFT_TISSUE235357328235357526235357484235357484Missense_MutationGAp.P657S
BICR18_UPPER_AERODIGESTIVE_TRACT235357328235357526235357501235357501Missense_MutationTCp.K651R
HGC27_STOMACH235357328235357526235357511235357511Missense_MutationCGp.E648Q
WM278_SKIN235357328235357526235357515235357515Missense_MutationGTp.D646E
GP2D_LARGE_INTESTINE235377084235377341235377097235377097Missense_MutationCTp.G610R
GP5D_LARGE_INTESTINE235377084235377341235377097235377097Missense_MutationCTp.G610R
PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE235377084235377341235377103235377103Missense_MutationAGp.Y608H
DAUDI_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE235377084235377341235377120235377120Missense_MutationAGp.V602A
DND41_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE235377084235377341235377120235377120Missense_MutationAGp.V602A
BICR18_UPPER_AERODIGESTIVE_TRACT235377084235377341235377120235377120Missense_MutationAGp.V602A
KARPAS231_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE235377084235377341235377193235377193Missense_MutationGAp.R578W
DAUDI_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE235377084235377341235377300235377301Missense_MutationGCATp.A542I
SUPT11_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE235377084235377341235377309235377309Missense_MutationTAp.D539V
SNUC5_LARGE_INTESTINE235394428235394504235394470235394470Missense_MutationTCp.T234A
SNU175_LARGE_INTESTINE235403628235403766235403671235403671Missense_MutationTCp.Y181C
HCC1438_LUNG235418975235419065235419038235419038Missense_MutationGCp.L71V
HCC33_LUNG235418975235419065235419043235419043Missense_MutationTAp.K69M
CAL148_BREAST235377084235377341235377092235377092Nonsense_MutationCTp.W611*
NCIH1793_LUNG235377084235377341235377235235377235Nonsense_MutationCAp.E564*
IGROV1_OVARY235397728235397807235397750235397750Nonsense_MutationGAp.R215*
PCM6_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE235403628235403766235403641235403641Nonsense_MutationCTp.W191*
NCIH661_LUNG235403628235403766235403766235403766Splice_SiteTAp.I149I

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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for ARID4B

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 ARID4B


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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for ARID4B


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RelatedDrugs for ARID4B

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 ARID4B

check button Diseases associated with this gene.
(DisGeNet 4.0)
GeneDisease IDDisease name# pubmedsSource
ARID4BC0010606Adenoid Cystic Carcinoma1CTD_human