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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 ATAD2B

check button Gene summary
Gene informationGene symbol

ATAD2B

Gene ID

54454

Gene nameATPase family, AAA domain containing 2B
Synonyms-
Cytomap

2p24.1-p23.3

Type of geneprotein-coding
DescriptionATPase family AAA domain-containing protein 2B
Modification date20180523
UniProtAcc

Q9ULI0

ContextPubMed: ATAD2B [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 ATAD2B 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 ATAD2B

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 ATAD2B

check button Information of exkip skipping event in TCGA.
Exon skip IDchrExons involved in exon skippingSkipped exonENSGENSTs
exon_skip_337297223977516:23977644:23980287:23980971:23985078:2398521623980287:23980971ENSG00000119778.10ENST00000238789.5,ENST00000381024.4,ENST00000474583.1
exon_skip_337300223985078:23985216:23988375:23988498:24005738:2400589823988375:23988498ENSG00000119778.10ENST00000238789.5,ENST00000381024.4,ENST00000474583.1
exon_skip_337301224008911:24009093:24011381:24011517:24021007:2402119324011381:24011517ENSG00000119778.10ENST00000238789.5,ENST00000381024.4,ENST00000474583.1
exon_skip_337309224021007:24021193:24033185:24033372:24042616:2404272524033185:24033372ENSG00000119778.10ENST00000238789.5,ENST00000381024.4
exon_skip_337314224033185:24033372:24042616:24042752:24046127:2404643924042616:24042752ENSG00000119778.10ENST00000238789.5,ENST00000474583.1
exon_skip_337315224046380:24046439:24050667:24050730:24051718:2405180924050667:24050730ENSG00000119778.10ENST00000474583.1
exon_skip_337317224056788:24056948:24080284:24080373:24086250:2408642524080284:24080373ENSG00000119778.10ENST00000238789.5
exon_skip_337318224080284:24080373:24086250:24086425:24087678:2408779424086250:24086425ENSG00000119778.10ENST00000238789.5,ENST00000366438.2
exon_skip_337320224092539:24092631:24098698:24098774:24103508:2410362524098698:24098774ENSG00000119778.10ENST00000238789.5,ENST00000439915.1
exon_skip_337321224103508:24103625:24106463:24106505:24107634:2410774324106463:24106505ENSG00000119778.10ENST00000439915.1
exon_skip_337322224108596:24108699:24110701:24110855:24111219:2411126924110701:24110855ENSG00000119778.10ENST00000238789.5,ENST00000439915.1
exon_skip_337324224111219:24111269:24118688:24118840:24149424:2414993524118688:24118840ENSG00000119778.10ENST00000439915.1

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

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Exon skipping events with PSIs in GTEx for ATAD2B

check button Information of exkip skipping event in GTEx
Exon skip IDchrExons involved in exon skippingSkipped exonENSGENSTs
exon_skip_337297223977516:23977644:23980287:23980971:23985078:2398521623980287:23980971ENSG00000119778.10ENST00000238789.5,ENST00000381024.4,ENST00000474583.1
exon_skip_337300223985078:23985216:23988375:23988498:24005738:2400589823988375:23988498ENSG00000119778.10ENST00000238789.5,ENST00000381024.4,ENST00000474583.1
exon_skip_337301224008911:24009093:24011381:24011517:24021007:2402119324011381:24011517ENSG00000119778.10ENST00000238789.5,ENST00000381024.4,ENST00000474583.1
exon_skip_337303224021007:24021193:24022694:24022863:24029040:2402909824022694:24022863ENSG00000119778.10ENST00000474583.1
exon_skip_337309224021007:24021193:24033185:24033372:24042616:2404272524033185:24033372ENSG00000119778.10ENST00000238789.5,ENST00000381024.4
exon_skip_337312224029040:24029098:24031858:24032046:24033185:2403337224031858:24032046ENSG00000119778.10ENST00000474583.1
exon_skip_337314224033185:24033372:24042616:24042752:24046127:2404643924042616:24042752ENSG00000119778.10ENST00000238789.5,ENST00000474583.1
exon_skip_337315224046380:24046439:24050667:24050730:24051718:2405180924050667:24050730ENSG00000119778.10ENST00000474583.1
exon_skip_337317224056788:24056948:24080284:24080373:24086250:2408642524080284:24080373ENSG00000119778.10ENST00000238789.5
exon_skip_337318224080284:24080373:24086250:24086425:24087678:2408779424086250:24086425ENSG00000119778.10ENST00000238789.5,ENST00000366438.2
exon_skip_337319224086250:24086425:24087678:24087794:24090704:2409075724087678:24087794ENSG00000119778.10ENST00000238789.5,ENST00000366438.2
exon_skip_337321224103508:24103625:24106463:24106505:24107634:2410774324106463:24106505ENSG00000119778.10ENST00000439915.1
exon_skip_337322224108596:24108699:24110701:24110855:24111219:2411126924110701:24110855ENSG00000119778.10ENST00000238789.5,ENST00000439915.1

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 ATAD2B

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
ENST000002387892401138124011517Frame-shift
ENST000002387892403318524033372Frame-shift
ENST000002387892404261624042752Frame-shift
ENST000002387892408028424080373Frame-shift
ENST000002387892408625024086425Frame-shift
ENST000002387892409869824098774Frame-shift
ENST000002387892411070124110855Frame-shift
ENST000002387892398028723980971In-frame
ENST000002387892398837523988498In-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
ENST000002387892401138124011517Frame-shift
ENST000002387892403318524033372Frame-shift
ENST000002387892404261624042752Frame-shift
ENST000002387892408028424080373Frame-shift
ENST000002387892408625024086425Frame-shift
ENST000002387892408767824087794Frame-shift
ENST000002387892411070124110855Frame-shift
ENST000002387892398028723980971In-frame
ENST000002387892398837523988498In-frame

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Infer the effects of exon skipping event on protein functional features for ATAD2B

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
ENST000002387898120145823988375239884983478360010441085
ENST000002387898120145823980287239809713739442211311359

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
ENST000002387898120145823988375239884983478360010441085
ENST000002387898120145823980287239809713739442211311359

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
Q9ULI01044108511458ChainID=PRO_0000050789;Note=ATPase family AAA domain-containing protein 2B
Q9ULI0104410859751045DomainNote=Bromo;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00035
Q9ULI01044108510431066HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3LXJ
Q9ULI01044108510691083HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3LXJ
Q9ULI01131135911458ChainID=PRO_0000050789;Note=ATPase family AAA domain-containing protein 2B
Q9ULI01131135912471250Compositional biasNote=Poly-Ser
Q9ULI01131135913381338Modified residueNote=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:21406692;Dbxref=PMID:21406692
Q9ULI01131135913471347Modified residueNote=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000244;evidence=ECO:0000244|PubMed:21406692,ECO:0000244|PubMed:23186163;Dbxref=PMID:21406692,PMID:23186163


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
Q9ULI01044108511458ChainID=PRO_0000050789;Note=ATPase family AAA domain-containing protein 2B
Q9ULI0104410859751045DomainNote=Bromo;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00035
Q9ULI01044108510431066HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3LXJ
Q9ULI01044108510691083HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3LXJ
Q9ULI01131135911458ChainID=PRO_0000050789;Note=ATPase family AAA domain-containing protein 2B
Q9ULI01131135912471250Compositional biasNote=Poly-Ser
Q9ULI01131135913381338Modified residueNote=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:21406692;Dbxref=PMID:21406692
Q9ULI01131135913471347Modified residueNote=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000244;evidence=ECO:0000244|PubMed:21406692,ECO:0000244|PubMed:23186163;Dbxref=PMID:21406692,PMID:23186163


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SNVs in the skipped exons for ATAD2B

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-A39Y-01exon_skip_337297
23980288239809712398046323980463Frame_Shift_DelT-p.K1301fs
LIHCTCGA-G3-A3CJ-01exon_skip_337314
24042617240427522404263724042637Frame_Shift_DelT-p.K749fs
LIHCTCGA-G3-A3CJ-01exon_skip_337314
24042617240427522404263724042637Frame_Shift_DelT-p.P750fs
KIRCTCGA-B0-5098-01exon_skip_337314
24042617240427522404267924042682Frame_Shift_DelTGAG-p.HS734fs
LIHCTCGA-DD-A3A0-01exon_skip_337317
24080285240803732408033424080334Frame_Shift_DelT-p.I507fs
LIHCTCGA-DD-A1EG-01exon_skip_337317
24080285240803732408034124080341Frame_Shift_DelA-p.F504fs
UCECTCGA-B5-A0JZ-01exon_skip_337317
24080285240803732408034124080341Frame_Shift_DelA-p.F504fs
LIHCTCGA-DD-A3A0-01exon_skip_337318
24086251240864252408625724086257Frame_Shift_DelA-p.F491fs
COADTCGA-AU-6004-01exon_skip_337318
24086251240864252408632624086326Frame_Shift_DelA-p.M469fs
COADTCGA-F4-6570-01exon_skip_337318
24086251240864252408632624086326Frame_Shift_DelA-p.M469fs
UCECTCGA-BG-A0M4-01exon_skip_337318
24086251240864252408632624086326Frame_Shift_DelA-p.F468fs
KIRPTCGA-G7-A8LB-01exon_skip_337318
24086251240864252408637124086371Frame_Shift_DelT-p.L454X
COADTCGA-AZ-6601-01exon_skip_337320
24098699240987742409875624098756Frame_Shift_DelT-p.K307fs
UCSTCGA-ND-A4WC-01exon_skip_337297
23980288239809712398088823980889Frame_Shift_Ins-Tp.*1160fs
UCSTCGA-ND-A4WC-01exon_skip_337297
23980288239809712398088823980889Frame_Shift_Ins-Tp.D1160fs
UCECTCGA-B5-A0JY-01exon_skip_337297
23980288239809712398040423980404Nonsense_MutationGAp.R597*
UCECTCGA-AP-A05A-01exon_skip_337309
24033186240333722403319624033196Nonsense_MutationGCp.S815*
PAADTCGA-IB-7651-01exon_skip_337309
24033186240333722403320024033200Nonsense_MutationCAp.E814*
PAADTCGA-IB-7651-01exon_skip_337309
24033186240333722403320024033200Nonsense_MutationCAp.E814X
CHOLTCGA-W5-AA39-01exon_skip_337324
24118689241188402411877424118774Nonsense_MutationGAp.Q95*
CHOLTCGA-W5-AA39-01exon_skip_337324
24118689241188402411877424118774Nonsense_MutationGAp.Q95X

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
GSU_STOMACH24086251240864252408632624086326Frame_Shift_DelA-p.F468fs
HEC151_ENDOMETRIUM24086251240864252408632624086326Frame_Shift_DelA-p.F468fs
HEC6_ENDOMETRIUM24086251240864252408632624086326Frame_Shift_DelA-p.F468fs
2313287_STOMACH24086251240864252408632624086326Frame_Shift_DelA-p.F468fs
RKO_LARGE_INTESTINE24086251240864252408632624086326Frame_Shift_DelA-p.F468fs
AN3CA_ENDOMETRIUM24086251240864252408632624086326Frame_Shift_DelA-p.F468fs
SNU407_LARGE_INTESTINE24086251240864252408632624086326Frame_Shift_DelA-p.F468fs
HCC1569_BREAST24086251240864252408632624086326Frame_Shift_DelA-p.F468fs
SNU1040_LARGE_INTESTINE24086251240864252408632624086326Frame_Shift_DelA-p.F468fs
HEC265_ENDOMETRIUM24098699240987742409875624098756Frame_Shift_DelT-p.K307fs
SNUC2A_LARGE_INTESTINE24098699240987742409875624098756Frame_Shift_DelT-p.K307fs
IM95_STOMACH24098699240987742409875624098756Frame_Shift_DelT-p.K307fs
GP2D_LARGE_INTESTINE24098699240987742409875624098756Frame_Shift_DelT-p.K307fs
GP5D_LARGE_INTESTINE24098699240987742409875624098756Frame_Shift_DelT-p.K307fs
HEC1_ENDOMETRIUM24098699240987742409875624098756Frame_Shift_DelT-p.K307fs
RCCFG2_KIDNEY24098699240987742409875624098756Frame_Shift_DelT-p.K307fs
HCC2998_LARGE_INTESTINE23980288239809712398088823980889Frame_Shift_Ins-Tp.D1160fs
HCT15_LARGE_INTESTINE24011382240115172401144224011443Frame_Shift_Ins-Cp.F906fs
EN_ENDOMETRIUM24086251240864252408632524086326Frame_Shift_Ins-Ap.M469fs
MTA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE23980288239809712398045523980455Missense_MutationGAp.S1304F
EBC1_LUNG23980288239809712398055823980558Missense_MutationCAp.G1270C
HEC108_ENDOMETRIUM23980288239809712398060823980608Missense_MutationGTp.P1253Q
CAL51_BREAST23980288239809712398062623980626Missense_MutationCTp.S1247N
KHYG_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE23980288239809712398064123980641Missense_MutationGTp.S1242Y
NKL_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE23980288239809712398064123980641Missense_MutationGAp.S1242F
RERFLCFM_LUNG23980288239809712398064423980644Missense_MutationTCp.E1241G
SNU349_KIDNEY23980288239809712398065823980658Missense_MutationCAp.E1236D
EMCBAC1_LUNG23980288239809712398066223980662Missense_MutationTAp.E1235V
HCC366_LUNG23980288239809712398086023980860Missense_MutationTGp.Y1169S
LS411N_LARGE_INTESTINE23988376239884982398839723988397Missense_MutationTCp.K1079E
SW1088_CENTRAL_NERVOUS_SYSTEM23988376239884982398846623988466Missense_MutationTGp.K1056Q
NCIH1339_LUNG23988376239884982398847923988479Missense_MutationCAp.R1051S
NCIH2172_LUNG24011382240115172401141524011415Missense_MutationCAp.A915S
HEC1A_ENDOMETRIUM24011382240115172401141524011415Missense_MutationCTp.A915T
697_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE24011382240115172401147224011472Missense_MutationGCp.Q896E
L540_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE24011382240115172401147724011477Missense_MutationTCp.Y894C
BCPAP_THYROID24033186240333722403331624033316Missense_MutationCTp.R775Q
BT474_BREAST24086251240864252408630224086302Missense_MutationCGp.L476F
HT55_LARGE_INTESTINE24086251240864252408634524086345Missense_MutationTCp.D462G
NUDUL1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE24086251240864252408634524086345Missense_MutationTCp.D462G
SW756_CERVIX24098699240987742409876624098766Missense_MutationGCp.H304D
KYSE30_OESOPHAGUS24118689241188402411869924118699Missense_MutationCTp.G120R
EFE184_ENDOMETRIUM24118689241188402411877124118771Missense_MutationGCp.P96A
SNU1040_LARGE_INTESTINE24118689241188402411869024118690Splice_SiteTAp.R123W

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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for ATAD2B

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 ATAD2B


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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for ATAD2B


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RelatedDrugs for ATAD2B

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 ATAD2B

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