ExonSkipDB Logo

Home

Download

Statistics

Landscape

Help

Contact
Center for Computational Systems Medicine
leaf

Gene summary

leaf

Gene structures and expression levels

leaf

Exon skipping events with PSIs in TCGA

leaf

Exon skipping events with PSIs in GTEx

leaf

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

leaf

Exon skipping events in the canonical protein sequence

leaf

SNVs in the skipped exons with depth of coverage

leaf

Splicing Quantitative Trait Loci (sQTLs) in the skipped exons

leaf

Splicing Quantitative Trait Methylation (sQTM) in the skipped exon

leaf

Related drugs with this gene

leaf

Related diseases with this gene

Gene summary for ATP10B

check button Gene summary
Gene informationGene symbol

ATP10B

Gene ID

23120

Gene nameATPase phospholipid transporting 10B (putative)
SynonymsATPVB
Cytomap

5q34

Type of geneprotein-coding
Descriptionprobable phospholipid-transporting ATPase VBATPase, class V, type 10BP4-ATPase flippase complex alpha subunit ATP10B
Modification date20180523
UniProtAcc

O94823

ContextPubMed: ATP10B [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

Top

Exon skipping events across known transcript of Ensembl for ATP10B 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

Top

Gene isoform structures and expression levels for ATP10B

check button Expression levels of gene isoforms across TCGA.
gencode gene structure

check button Expression levels of gene isoforms across GTEx.
gencode gene structure


Top

Exon skipping events with PSIs in TCGA for ATP10B

check button Information of exkip skipping event in TCGA.
Exon skip IDchrExons involved in exon skippingSkipped exonENSGENSTs
exon_skip_4460495159990126:159992907:159996502:159996690:160016598:160016703159996502:159996690ENSG00000118322.8ENST00000327245.5
exon_skip_4460515159996502:159996690:160016598:160016703:160018065:160018146160016598:160016703ENSG00000118322.8ENST00000327245.5
exon_skip_4460575160016598:160016703:160018065:160018146:160025776:160025927160018065:160018146ENSG00000118322.8ENST00000327245.5
exon_skip_4460625160018065:160018146:160025776:160025977:160029583:160029709160025776:160025977ENSG00000118322.8ENST00000327245.5
exon_skip_4460645160047353:160047957:160049400:160049592:160059135:160059374160049400:160049592ENSG00000118322.8ENST00000520108.1,ENST00000327245.5
exon_skip_4460665160059135:160059374:160061360:160061613:160063188:160063316160061360:160061613ENSG00000118322.8ENST00000327245.5
exon_skip_4460675160063188:160063316:160067467:160067599:160071144:160071251160067467:160067599ENSG00000118322.8ENST00000521033.1,ENST00000326831.3,ENST00000517802.1,ENST00000327245.5
exon_skip_4460725160067471:160067599:160071144:160071251:160076177:160076263160071144:160071251ENSG00000118322.8ENST00000521033.1,ENST00000326831.3,ENST00000517802.1,ENST00000327245.5
exon_skip_4460755160071144:160071251:160076177:160076263:160097469:160097674160076177:160076263ENSG00000118322.8ENST00000521033.1,ENST00000326831.3,ENST00000517802.1,ENST00000327245.5
exon_skip_4460775160076177:160076263:160097469:160097674:160111841:160112392160097469:160097674ENSG00000118322.8ENST00000326831.3
exon_skip_4460805160114917:160115101:160115766:160115950:160143915:160144041160115766:160115950ENSG00000118322.8ENST00000327245.5
exon_skip_4460815160114917:160115101:160143915:160144041:160212565:160212810160143915:160144041ENSG00000118322.8ENST00000517802.1
exon_skip_4460825160114917:160115101:160143915:160144041:160212742:160212810160143915:160144041ENSG00000118322.8ENST00000520098.1
exon_skip_4460865160143915:160144041:160212565:160212810:160278947:160279161160212565:160212810ENSG00000118322.8ENST00000517802.1
exon_skip_4460875160143915:160144041:160212742:160212810:160278947:160279161160212742:160212810ENSG00000118322.8ENST00000520975.1,ENST00000520098.1

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

Top

Exon skipping events with PSIs in GTEx for ATP10B

check button Information of exkip skipping event in GTEx
Exon skip IDchrExons involved in exon skippingSkipped exonENSGENSTs
exon_skip_4460495159990126:159992907:159996502:159996690:160016598:160016703159996502:159996690ENSG00000118322.8ENST00000327245.5
exon_skip_4460575160016598:160016703:160018065:160018146:160025776:160025927160018065:160018146ENSG00000118322.8ENST00000327245.5
exon_skip_4460625160018065:160018146:160025776:160025977:160029583:160029709160025776:160025977ENSG00000118322.8ENST00000327245.5
exon_skip_4460645160047353:160047957:160049400:160049592:160059135:160059374160049400:160049592ENSG00000118322.8ENST00000327245.5,ENST00000520108.1
exon_skip_4460665160059135:160059374:160061360:160061613:160063188:160063316160061360:160061613ENSG00000118322.8ENST00000327245.5
exon_skip_4460675160063188:160063316:160067467:160067599:160071144:160071251160067467:160067599ENSG00000118322.8ENST00000327245.5,ENST00000326831.3,ENST00000517802.1,ENST00000521033.1
exon_skip_4460725160067471:160067599:160071144:160071251:160076177:160076263160071144:160071251ENSG00000118322.8ENST00000327245.5,ENST00000326831.3,ENST00000517802.1,ENST00000521033.1
exon_skip_4460755160071144:160071251:160076177:160076263:160097469:160097674160076177:160076263ENSG00000118322.8ENST00000327245.5,ENST00000326831.3,ENST00000517802.1,ENST00000521033.1
exon_skip_4460775160076177:160076263:160097469:160097674:160111841:160112392160097469:160097674ENSG00000118322.8ENST00000326831.3
exon_skip_4460805160114917:160115101:160115766:160115950:160143915:160144041160115766:160115950ENSG00000118322.8ENST00000327245.5
exon_skip_4460815160114917:160115101:160143915:160144041:160212565:160212810160143915:160144041ENSG00000118322.8ENST00000517802.1
exon_skip_4460825160114917:160115101:160143915:160144041:160212742:160212810160143915:160144041ENSG00000118322.8ENST00000520098.1
exon_skip_4460865160143915:160144041:160212565:160212810:160278947:160279161160212565:160212810ENSG00000118322.8ENST00000517802.1
exon_skip_4460875160143915:160144041:160212742:160212810:160278947:160279161160212742:160212810ENSG00000118322.8ENST00000520098.1,ENST00000520975.1

check button PSI values of skipped exons in GTEx.
psi gtex

* Skipped exon sequences.

Top

Open reading frame (ORF) annotation in the exon skipping event for ATP10B

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
ENST000003272451601157661601159503UTR-3UTR
ENST00000327245159996502159996690Frame-shift
ENST00000327245160061360160061613Frame-shift
ENST00000327245160071144160071251Frame-shift
ENST00000327245160076177160076263Frame-shift
ENST00000327245160016598160016703In-frame
ENST00000327245160018065160018146In-frame
ENST00000327245160025776160025977In-frame
ENST00000327245160049400160049592In-frame
ENST00000327245160067467160067599In-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
ENST000003272451601157661601159503UTR-3UTR
ENST00000327245159996502159996690Frame-shift
ENST00000327245160061360160061613Frame-shift
ENST00000327245160071144160071251Frame-shift
ENST00000327245160076177160076263Frame-shift
ENST00000327245160018065160018146In-frame
ENST00000327245160025776160025977In-frame
ENST00000327245160049400160049592In-frame
ENST00000327245160067467160067599In-frame

Top

Infer the effects of exon skipping event on protein functional features for ATP10B

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
ENST000003272457583146116006746716006759917161847289333
ENST000003272457583146116004940016004959224682659540604
ENST00000327245758314611600257761600259774211441111211188
ENST00000327245758314611600180651600181464412449211881215
ENST00000327245758314611600165981600167034493459712151250

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
ENST000003272457583146116006746716006759917161847289333
ENST000003272457583146116004940016004959224682659540604
ENST00000327245758314611600257761600259774211441111211188
ENST00000327245758314611600180651600181464412449211881215

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
O9482328933311461ChainID=PRO_0000046381;Note=Probable phospholipid-transporting ATPase VB
O94823289333133316Topological domainNote=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255
O94823289333317338TransmembraneNote=Helical;Ontology_term=ECO:0000255;evidence=ECO:0000255
O948235406045301461Alternative sequenceID=VSP_007307;Note=In isoform B and isoform C. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039
O9482354060411461ChainID=PRO_0000046381;Note=Probable phospholipid-transporting ATPase VB
O948235406043911111Topological domainNote=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255
O94823112111885301461Alternative sequenceID=VSP_007307;Note=In isoform B and isoform C. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039
O948231121118811461ChainID=PRO_0000046381;Note=Probable phospholipid-transporting ATPase VB
O948231121118811331144Topological domainNote=Exoplasmic loop;Ontology_term=ECO:0000255;evidence=ECO:0000255
O948231121118811651194Topological domainNote=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255
O948231121118811121132TransmembraneNote=Helical;Ontology_term=ECO:0000255;evidence=ECO:0000255
O948231121118811451164TransmembraneNote=Helical;Ontology_term=ECO:0000255;evidence=ECO:0000255
O94823118812155301461Alternative sequenceID=VSP_007307;Note=In isoform B and isoform C. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039
O948231188121511461ChainID=PRO_0000046381;Note=Probable phospholipid-transporting ATPase VB
O948231188121511651194Topological domainNote=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255
O948231188121511951216TransmembraneNote=Helical;Ontology_term=ECO:0000255;evidence=ECO:0000255
O94823121512505301461Alternative sequenceID=VSP_007307;Note=In isoform B and isoform C. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039
O948231215125011461ChainID=PRO_0000046381;Note=Probable phospholipid-transporting ATPase VB
O948231215125012171223Topological domainNote=Exoplasmic loop;Ontology_term=ECO:0000255;evidence=ECO:0000255
O948231215125012471252Topological domainNote=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255
O948231215125011951216TransmembraneNote=Helical;Ontology_term=ECO:0000255;evidence=ECO:0000255
O948231215125012241246TransmembraneNote=Helical;Ontology_term=ECO:0000255;evidence=ECO:0000255


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
O9482328933311461ChainID=PRO_0000046381;Note=Probable phospholipid-transporting ATPase VB
O94823289333133316Topological domainNote=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255
O94823289333317338TransmembraneNote=Helical;Ontology_term=ECO:0000255;evidence=ECO:0000255
O948235406045301461Alternative sequenceID=VSP_007307;Note=In isoform B and isoform C. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039
O9482354060411461ChainID=PRO_0000046381;Note=Probable phospholipid-transporting ATPase VB
O948235406043911111Topological domainNote=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255
O94823112111885301461Alternative sequenceID=VSP_007307;Note=In isoform B and isoform C. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039
O948231121118811461ChainID=PRO_0000046381;Note=Probable phospholipid-transporting ATPase VB
O948231121118811331144Topological domainNote=Exoplasmic loop;Ontology_term=ECO:0000255;evidence=ECO:0000255
O948231121118811651194Topological domainNote=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255
O948231121118811121132TransmembraneNote=Helical;Ontology_term=ECO:0000255;evidence=ECO:0000255
O948231121118811451164TransmembraneNote=Helical;Ontology_term=ECO:0000255;evidence=ECO:0000255
O94823118812155301461Alternative sequenceID=VSP_007307;Note=In isoform B and isoform C. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039
O948231188121511461ChainID=PRO_0000046381;Note=Probable phospholipid-transporting ATPase VB
O948231188121511651194Topological domainNote=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255
O948231188121511951216TransmembraneNote=Helical;Ontology_term=ECO:0000255;evidence=ECO:0000255


Top

SNVs in the skipped exons for ATP10B

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
OVTCGA-24-1423-01exon_skip_446064
160049401160049592160049412160049442Frame_Shift_DelGCTCGGTGGTTGTGGACACCATGACAGAGTT-p.N591fs
BRCATCGA-AN-A0FJ-01exon_skip_446066
160061361160061613160061486160061499Frame_Shift_DelTTGAGGGCTCGACA-p.C415fs
LIHCTCGA-G3-A3CJ-01exon_skip_446066
160061361160061613160061602160061602Frame_Shift_DelG-p.P380fs
LUADTCGA-17-Z056-01exon_skip_446072
160071145160071251160071224160071224Frame_Shift_DelG-p.G263fs
LIHCTCGA-DD-A3A0-01exon_skip_446075
160076178160076263160076238160076238Frame_Shift_DelA-p.F234fs
LIHCTCGA-DD-A39Y-01exon_skip_446077
160097470160097674160097568160097568Frame_Shift_DelA-p.S194fs
LIHCTCGA-G3-A3CJ-01exon_skip_446077
160097470160097674160097568160097568Frame_Shift_DelA-p.S194fs
LIHCTCGA-G3-A3CJ-01exon_skip_446077
160097470160097674160097627160097627Frame_Shift_DelC-p.G173fs
STADTCGA-CG-4449-01exon_skip_446067
160067468160067599160067471160067472Frame_Shift_Ins-Ap.A332fs
STADTCGA-CG-4449-01exon_skip_446067
160067468160067599160067471160067472Frame_Shift_Ins-Ap.V333fs
STADTCGA-CG-4449-01exon_skip_446067
160067468160067599160067472160067473Frame_Shift_Ins-Ap.A332fs
LIHCTCGA-DD-AADE-01exon_skip_446064
160049401160049592160049550160049550Nonsense_MutationGAp.R555X
PRADTCGA-J4-A83M-01exon_skip_446066
160061361160061613160061406160061406Nonsense_MutationGAp.R446*
LUADTCGA-86-8673-01exon_skip_446066
160061361160061613160061523160061523Nonsense_MutationCAp.E407*

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
NCIH650_LUNG160025777160025977160025957160025957Frame_Shift_DelG-p.F1128fs
LK2_LUNG159996503159996690159996549159996581In_Frame_DelAAGTGGGGTTTGAGAGCTGGCCTTCCATCACCC-p.WVMEGQLSNPT1287del
AN3CA_ENDOMETRIUM159996503159996690159996623159996623Missense_MutationTCp.N1273S
LS411N_LARGE_INTESTINE159996503159996690159996672159996672Missense_MutationCTp.V1257M
CW2_LARGE_INTESTINE159996503159996690159996678159996678Missense_MutationCTp.G1255R
SARC9371_BONE159996503159996690159996678159996678Missense_MutationCTp.G1255R
GB1_CENTRAL_NERVOUS_SYSTEM160016599160016703160016672160016672Missense_MutationGTp.T1226N
NCIH1573_LUNG160016599160016703160016682160016682Missense_MutationCGp.D1223H
SCABER_URINARY_TRACT160018066160018146160018086160018086Missense_MutationATp.C1209S
UPCISCC152_UPPER_AERODIGESTIVE_TRACT160018066160018146160018118160018118Missense_MutationGCp.S1198C
SCC90_UPPER_AERODIGESTIVE_TRACT160018066160018146160018118160018118Missense_MutationGCp.S1198C
PACADD119_PANCREAS160025777160025977160025827160025827Missense_MutationCTp.E1172K
NCIH660_PROSTATE160025777160025977160025886160025886Missense_MutationAGp.L1152P
MOGGUVW_CENTRAL_NERVOUS_SYSTEM160049401160049592160049444160049444Missense_MutationCAp.C590F
KYSE220_OESOPHAGUS160049401160049592160049455160049456Missense_MutationGGAAp.A586V
HEC59_ENDOMETRIUM160061361160061613160061507160061507Missense_MutationGAp.S412F
HCC2998_LARGE_INTESTINE160061361160061613160061540160061540Missense_MutationTGp.D401A
LS411N_LARGE_INTESTINE160061361160061613160061546160061546Missense_MutationCTp.S399N
MDAMB436_BREAST160061361160061613160061580160061580Missense_MutationCGp.E388Q
MCCAR_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE160067468160067599160067471160067471Missense_MutationCTp.V333I
NB13_AUTONOMIC_GANGLIA160067468160067599160067520160067520Missense_MutationGTp.D316E
JHU028_LUNG160071145160071251160071162160071162Missense_MutationCAp.G284V
P30OHK_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE160071145160071251160071183160071183Missense_MutationCTp.R277K
SUDHL4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE160071145160071251160071198160071198Missense_MutationCTp.R272Q
CAL148_BREAST160071145160071251160071212160071212Missense_MutationCGp.E267D
HPAC_PANCREAS160071145160071251160071236160071236Missense_MutationCAp.Q259H
JHUEM7_ENDOMETRIUM160071145160071251160071237160071237Missense_MutationTGp.Q259P
SCH_STOMACH160076178160076263160076181160076181Missense_MutationTCp.Y253C
HEC50B_ENDOMETRIUM160076178160076263160076226160076226Missense_MutationAGp.I238T
KYSE70_OESOPHAGUS160076178160076263160076254160076254Missense_MutationATp.F229I
TCCSUP_URINARY_TRACT160076178160076263160076254160076254Missense_MutationACp.F229V
R262_CENTRAL_NERVOUS_SYSTEM160097470160097674160097627160097627Missense_MutationCTp.G173E
U251MG_CENTRAL_NERVOUS_SYSTEM160097470160097674160097627160097627Missense_MutationCTp.G173E
NCIN87_STOMACH160061361160061613160061406160061406Nonsense_MutationGAp.R446*
PANC0203_PANCREAS160097470160097674160097520160097520Nonsense_MutationCAp.G209*
OVCA433_OVARY160018066160018146160018066160018066Splice_SiteCTp.L1215L
COV362_OVARY160049401160049592160049401160049401Splice_SiteCAp.R604S

Top

Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for ATP10B

check button sQTL information located at the skipped exons.
Exon skip IDChromosomeThree exonsSkippped exonENSTCancer typeSNP idLocationDNA change (ref/var)P-value

Top

Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for ATP10B


Top

Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for ATP10B


Top

RelatedDrugs for ATP10B

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

Top

RelatedDiseases for ATP10B

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