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 ATP8B4

check button Gene summary
Gene informationGene symbol

ATP8B4

Gene ID

79895

Gene nameATPase phospholipid transporting 8B4 (putative)
SynonymsATPIM
Cytomap

15q21.2

Type of geneprotein-coding
Descriptionprobable phospholipid-transporting ATPase IMATPase, class I, type 8B, member 4P4-ATPase flippase complex alpha subunit ATP8B4potential phospholipid-transporting ATPase IM
Modification date20180523
UniProtAcc

Q8TF62

ContextPubMed: ATP8B4 [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 ATP8B4 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 ATP8B4

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 ATP8B4

check button Information of exkip skipping event in TCGA.
Exon skip IDchrExons involved in exon skippingSkipped exonENSGENSTs
exon_skip_1269881550154441:50154572:50158542:50158681:50168474:5016872050158542:50158681ENSG00000104043.10ENST00000559726.1,ENST00000557955.1,ENST00000558498.1,ENST00000560354.1,ENST00000284509.6,ENST00000559829.1,ENST00000558203.1,ENST00000560479.1,ENST00000558906.1
exon_skip_1269931550190342:50190448:50193288:50193436:50209130:5020923650193288:50193436ENSG00000104043.10ENST00000559726.1,ENST00000561104.1,ENST00000284509.6,ENST00000559829.1,ENST00000558906.1
exon_skip_1270011550212470:50212607:50214420:50214602:50215575:5021569150214420:50214602ENSG00000104043.10ENST00000558458.1
exon_skip_1270021550215575:50215691:50223315:50223504:50226213:5022637950223315:50223504ENSG00000104043.10ENST00000559726.1,ENST00000557955.1,ENST00000284509.6,ENST00000559829.1
exon_skip_1270031550273402:50273491:50279587:50279746:50288873:5028895650279587:50279746ENSG00000104043.10ENST00000558959.1,ENST00000559726.1,ENST00000557955.1,ENST00000284509.6,ENST00000559829.1,ENST00000558906.1
exon_skip_1270041550279708:50279746:50288873:50288956:50294349:5029442050288873:50288956ENSG00000104043.10ENST00000558959.1,ENST00000559726.1,ENST00000557955.1,ENST00000284509.6,ENST00000559829.1,ENST00000558906.1
exon_skip_1270071550303041:50303114:50311085:50311173:50330964:5033102650311085:50311173ENSG00000104043.10ENST00000559726.1,ENST00000558906.1
exon_skip_1270081550303041:50303114:50330964:50331026:50336790:5033687150330964:50331026ENSG00000104043.10ENST00000558959.1,ENST00000557955.1,ENST00000558024.1,ENST00000284509.6,ENST00000559829.1
exon_skip_1270121550336790:50336889:50339547:50339661:50366323:5036638250339547:50339661ENSG00000104043.10ENST00000559726.1,ENST00000557955.1,ENST00000284509.6,ENST00000559829.1,ENST00000558906.1

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

Top

Exon skipping events with PSIs in GTEx for ATP8B4

check button Information of exkip skipping event in GTEx
Exon skip IDchrExons involved in exon skippingSkipped exonENSGENSTs
exon_skip_1269881550154441:50154572:50158542:50158681:50168474:5016872050158542:50158681ENSG00000104043.10ENST00000558498.1,ENST00000284509.6,ENST00000559726.1,ENST00000559829.1,ENST00000560479.1,ENST00000557955.1,ENST00000558906.1,ENST00000558203.1,ENST00000560354.1
exon_skip_1269931550190342:50190448:50193288:50193436:50209130:5020923650193288:50193436ENSG00000104043.10ENST00000284509.6,ENST00000559726.1,ENST00000559829.1,ENST00000558906.1,ENST00000561104.1
exon_skip_1270011550212470:50212607:50214420:50214602:50215575:5021569150214420:50214602ENSG00000104043.10ENST00000558458.1
exon_skip_1270021550215575:50215691:50223315:50223504:50226213:5022637950223315:50223504ENSG00000104043.10ENST00000284509.6,ENST00000559726.1,ENST00000559829.1,ENST00000557955.1
exon_skip_1270031550273402:50273491:50279587:50279746:50288873:5028895650279587:50279746ENSG00000104043.10ENST00000284509.6,ENST00000559726.1,ENST00000559829.1,ENST00000557955.1,ENST00000558906.1,ENST00000558959.1
exon_skip_1270041550279708:50279746:50288873:50288956:50294349:5029442050288873:50288956ENSG00000104043.10ENST00000284509.6,ENST00000559726.1,ENST00000559829.1,ENST00000557955.1,ENST00000558906.1,ENST00000558959.1
exon_skip_1270071550303041:50303114:50311085:50311173:50330964:5033102650311085:50311173ENSG00000104043.10ENST00000559726.1,ENST00000558906.1
exon_skip_1270081550303041:50303114:50330964:50331026:50336790:5033687150330964:50331026ENSG00000104043.10ENST00000284509.6,ENST00000559829.1,ENST00000557955.1,ENST00000558959.1,ENST00000558024.1
exon_skip_1270121550336790:50336889:50339547:50339661:50366323:5036638250339547:50339661ENSG00000104043.10ENST00000284509.6,ENST00000559726.1,ENST00000559829.1,ENST00000557955.1,ENST00000558906.1

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 ATP8B4

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
ENST000002845095015854250158681Frame-shift
ENST000005598295015854250158681Frame-shift
ENST000002845095019328850193436Frame-shift
ENST000005598295019328850193436Frame-shift
ENST000002845095028887350288956Frame-shift
ENST000005598295028887350288956Frame-shift
ENST000002845095033096450331026Frame-shift
ENST000005598295033096450331026Frame-shift
ENST000002845095022331550223504In-frame
ENST000005598295022331550223504In-frame
ENST000002845095027958750279746In-frame
ENST000005598295027958750279746In-frame
ENST000002845095033954750339661In-frame
ENST000005598295033954750339661In-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
ENST000002845095015854250158681Frame-shift
ENST000005598295015854250158681Frame-shift
ENST000002845095019328850193436Frame-shift
ENST000005598295019328850193436Frame-shift
ENST000002845095028887350288956Frame-shift
ENST000005598295028887350288956Frame-shift
ENST000002845095033096450331026Frame-shift
ENST000005598295033096450331026Frame-shift
ENST000002845095022331550223504In-frame
ENST000005598295022331550223504In-frame
ENST000002845095027958750279746In-frame
ENST000005598295027958750279746In-frame
ENST000002845095033954750339661In-frame
ENST000005598295033954750339661In-frame

Top

Infer the effects of exon skipping event on protein functional features for ATP8B4

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
ENST000002845095694119250339547503396612303432967
ENST000005598294911119250339547503396612093222967
ENST00000284509569411925027958750279746732890196249
ENST00000559829491111925027958750279746711869196249
ENST0000028450956941192502233155022350415961784484547
ENST0000055982949111192502233155022350415751763484547

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
ENST000002845095694119250339547503396612303432967
ENST000005598294911119250339547503396612093222967
ENST00000284509569411925027958750279746732890196249
ENST00000559829491111925027958750279746711869196249
ENST0000028450956941192502233155022350415961784484547
ENST0000055982949111192502233155022350415751763484547

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
Q8TF62296711192ChainID=PRO_0000046368;Note=Probable phospholipid-transporting ATPase IM
Q8TF62296711192ChainID=PRO_0000046368;Note=Probable phospholipid-transporting ATPase IM
Q8TF622967144Topological domainNote=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q8TF622967144Topological domainNote=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q8TF6229676772Topological domainNote=Exoplasmic loop;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q8TF6229676772Topological domainNote=Exoplasmic loop;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q8TF6229674566TransmembraneNote=Helical;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q8TF6229674566TransmembraneNote=Helical;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q8TF6219624911192ChainID=PRO_0000046368;Note=Probable phospholipid-transporting ATPase IM
Q8TF6219624911192ChainID=PRO_0000046368;Note=Probable phospholipid-transporting ATPase IM
Q8TF62196249225225Natural variantID=VAR_046962;Note=N->S;Dbxref=dbSNP:rs16963151
Q8TF62196249225225Natural variantID=VAR_046962;Note=N->S;Dbxref=dbSNP:rs16963151
Q8TF6219624993276Topological domainNote=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q8TF6219624993276Topological domainNote=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q8TF6248454711192ChainID=PRO_0000046368;Note=Probable phospholipid-transporting ATPase IM
Q8TF6248454711192ChainID=PRO_0000046368;Note=Probable phospholipid-transporting ATPase IM
Q8TF62484547350871Topological domainNote=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q8TF62484547350871Topological domainNote=Cytoplasmic;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
Q8TF62296711192ChainID=PRO_0000046368;Note=Probable phospholipid-transporting ATPase IM
Q8TF62296711192ChainID=PRO_0000046368;Note=Probable phospholipid-transporting ATPase IM
Q8TF622967144Topological domainNote=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q8TF622967144Topological domainNote=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q8TF6229676772Topological domainNote=Exoplasmic loop;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q8TF6229676772Topological domainNote=Exoplasmic loop;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q8TF6229674566TransmembraneNote=Helical;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q8TF6229674566TransmembraneNote=Helical;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q8TF6219624911192ChainID=PRO_0000046368;Note=Probable phospholipid-transporting ATPase IM
Q8TF6219624911192ChainID=PRO_0000046368;Note=Probable phospholipid-transporting ATPase IM
Q8TF62196249225225Natural variantID=VAR_046962;Note=N->S;Dbxref=dbSNP:rs16963151
Q8TF62196249225225Natural variantID=VAR_046962;Note=N->S;Dbxref=dbSNP:rs16963151
Q8TF6219624993276Topological domainNote=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q8TF6219624993276Topological domainNote=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q8TF6248454711192ChainID=PRO_0000046368;Note=Probable phospholipid-transporting ATPase IM
Q8TF6248454711192ChainID=PRO_0000046368;Note=Probable phospholipid-transporting ATPase IM
Q8TF62484547350871Topological domainNote=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q8TF62484547350871Topological domainNote=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255


Top

SNVs in the skipped exons for ATP8B4

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
STADTCGA-CG-4305-01exon_skip_126993
50193289501934365019336850193368Frame_Shift_DelT-p.K737fs
LIHCTCGA-DD-A1EG-01exon_skip_127002
50223316502235045022333150223331Frame_Shift_DelT-p.R543fs
LIHCTCGA-G3-A3CJ-01exon_skip_127003
50279588502797465027959250279592Frame_Shift_DelA-p.F248fs
LIHCTCGA-G3-A3CJ-01exon_skip_127003
50279588502797465027968550279685Frame_Shift_DelC-p.W217fs
LIHCTCGA-G3-A3CJ-01exon_skip_127004
50288874502889565028890850288908Frame_Shift_DelA-p.L185fs
PAADTCGA-FZ-5921-01exon_skip_126993
50193289501934365019336750193368Frame_Shift_Ins-Tp.T737fs
LIHCTCGA-5C-A9VG-01exon_skip_127002
50223316502235045022335350223354Frame_Shift_Ins-Ap.L535fs
UCECTCGA-BS-A0UV-01exon_skip_127002
50223316502235045022339450223394Nonsense_MutationCAp.E522*
SKCMTCGA-DA-A3F5-06exon_skip_127002
50223316502235045022348450223484Nonsense_MutationGAp.Q492*
SKCMTCGA-DA-A3F5-06exon_skip_127002
50223316502235045022348450223484Nonsense_MutationGAp.Q492X
UCECTCGA-AX-A05Z-01exon_skip_127002
50223316502235045022350250223502Nonsense_MutationCAp.E486*

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
RT112_URINARY_TRACT50158543501586815015859350158593Missense_MutationAGp.M1039T
SW1271_LUNG50158543501586815015862150158621Missense_MutationCAp.A1030S
NCIH1650_LUNG50158543501586815015864250158642Missense_MutationCTp.V1023I
DIFI_LARGE_INTESTINE50193289501934365019330350193303Missense_MutationTCp.N759D
HEC6_ENDOMETRIUM50193289501934365019332750193327Missense_MutationTAp.T751S
HCC2998_LARGE_INTESTINE50193289501934365019334750193347Missense_MutationGTp.S744Y
SNU81_LARGE_INTESTINE50193289501934365019339750193397Missense_MutationACp.F727L
HEC251_ENDOMETRIUM50193289501934365019342250193422Missense_MutationTCp.N719S
DU145_PROSTATE50223316502235045022336050223360Missense_MutationGTp.A533D
KARPAS45_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE50223316502235045022336350223363Missense_MutationATp.L532H
MM386_SKIN50223316502235045022340850223408Missense_MutationGAp.T517I
A427_LUNG50223316502235045022350050223500Missense_MutationCAp.E486D
LN18_CENTRAL_NERVOUS_SYSTEM50279588502797465027966950279669Missense_MutationATp.S223T
EN_ENDOMETRIUM50279588502797465027972850279728Missense_MutationATp.V203E
NCIH630_LARGE_INTESTINE50279588502797465027973450279734Missense_MutationCTp.C201Y
PACADD137_PANCREAS50288874502889565028893650288936Missense_MutationCTp.R176H
EFO27_OVARY50330965503310265033099350330993Missense_MutationGAp.R112W
SW1116_LARGE_INTESTINE50339548503396615033961550339615Missense_MutationGAp.P45L
TASK1_CENTRAL_NERVOUS_SYSTEM50339548503396615033965450339654Missense_MutationCTp.R32H
HT115_LARGE_INTESTINE50223316502235045022339450223394Nonsense_MutationCAp.E522*
JEKO1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE50223316502235045022348450223484Nonsense_MutationGAp.Q492*
JHUEM1_ENDOMETRIUM50279588502797465027961450279614Nonsense_MutationCTp.W241*
K2_SKIN50279588502797465027968650279686Nonsense_MutationCTp.W217*
GCT_SOFT_TISSUE50339548503396615033959250339592Nonsense_MutationGAp.Q53*
ISHIKAWAHERAKLIO02ER_ENDOMETRIUM50223316502235045022331650223316Splice_SiteCAp.V548F

Top

Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for ATP8B4

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 ATP8B4


Top

Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for ATP8B4


Top

RelatedDrugs for ATP8B4

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

Top

RelatedDiseases for ATP8B4

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