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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 AEBP1

check button Gene summary
Gene informationGene symbol

AEBP1

Gene ID

165

Gene nameAE binding protein 1
SynonymsACLP
Cytomap

7p13

Type of geneprotein-coding
Descriptionadipocyte enhancer-binding protein 1aortic carboxypeptidase-like protein
Modification date20180523
UniProtAcc

Q8IUX7

ContextPubMed: AEBP1 [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 AEBP1 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 AEBP1

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 AEBP1

check button Information of exkip skipping event in TCGA.
Exon skip IDchrExons involved in exon skippingSkipped exonENSGENSTs
exon_skip_465680744144392:44144517:44146144:44146486:44147037:4414710944146144:44146486ENSG00000106624.4ENST00000455443.1
exon_skip_465681744147037:44147109:44147227:44147299:44147407:4414753044147227:44147299ENSG00000106624.4ENST00000223357.3
exon_skip_465688744147227:44147299:44147407:44147530:44147605:4414768344147407:44147530ENSG00000106624.4ENST00000223357.3
exon_skip_465690744147607:44147683:44148497:44148575:44148705:4414876144148497:44148575ENSG00000106624.4ENST00000223357.3,ENST00000455443.1
exon_skip_465702744148886:44148940:44149255:44149723:44149805:4414982444149255:44149723ENSG00000106624.4ENST00000453052.1
exon_skip_465704744148886:44148940:44149613:44149723:44149805:4414982444149613:44149723ENSG00000106624.4ENST00000223357.3
exon_skip_465708744149862:44149945:44150323:44150408:44150511:4415065644150323:44150408ENSG00000106624.4ENST00000223357.3
exon_skip_465709744151452:44151649:44151740:44151920:44152156:4415221544151740:44151920ENSG00000106624.4ENST00000223357.3,ENST00000431035.1,ENST00000450684.2
exon_skip_465710744151452:44151649:44151804:44151920:44152156:4415221544151804:44151920ENSG00000106624.4ENST00000413907.1
exon_skip_465718744152589:44152729:44152850:44152950:44153192:4415367144152850:44152950ENSG00000106624.4ENST00000223357.3,ENST00000413907.1,ENST00000450684.2

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

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Exon skipping events with PSIs in GTEx for AEBP1

check button Information of exkip skipping event in GTEx
Exon skip IDchrExons involved in exon skippingSkipped exonENSGENSTs
exon_skip_465680744144392:44144517:44146144:44146486:44147037:4414710944146144:44146486ENSG00000106624.4ENST00000455443.1
exon_skip_465681744147037:44147109:44147227:44147299:44147407:4414753044147227:44147299ENSG00000106624.4ENST00000223357.3
exon_skip_465688744147227:44147299:44147407:44147530:44147605:4414768344147407:44147530ENSG00000106624.4ENST00000223357.3
exon_skip_465690744147607:44147683:44148497:44148575:44148705:4414876144148497:44148575ENSG00000106624.4ENST00000223357.3,ENST00000455443.1
exon_skip_465702744148886:44148940:44149255:44149723:44149805:4414982444149255:44149723ENSG00000106624.4ENST00000453052.1
exon_skip_465704744148886:44148940:44149613:44149723:44149805:4414982444149613:44149723ENSG00000106624.4ENST00000223357.3
exon_skip_465708744149862:44149945:44150323:44150408:44150511:4415065644150323:44150408ENSG00000106624.4ENST00000223357.3
exon_skip_465709744151452:44151649:44151740:44151920:44152156:4415221544151740:44151920ENSG00000106624.4ENST00000223357.3,ENST00000450684.2,ENST00000431035.1
exon_skip_465710744151452:44151649:44151804:44151920:44152156:4415221544151804:44151920ENSG00000106624.4ENST00000413907.1
exon_skip_465718744152589:44152729:44152850:44152950:44153192:4415367144152850:44152950ENSG00000106624.4ENST00000223357.3,ENST00000450684.2,ENST00000413907.1

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 AEBP1

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
ENST000002233574414961344149723Frame-shift
ENST000002233574415032344150408Frame-shift
ENST000002233574415285044152950Frame-shift
ENST000002233574414722744147299In-frame
ENST000002233574414740744147530In-frame
ENST000002233574414849744148575In-frame
ENST000002233574415174044151920In-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
ENST000002233574414961344149723Frame-shift
ENST000002233574415032344150408Frame-shift
ENST000002233574415285044152950Frame-shift
ENST000002233574414722744147299In-frame
ENST000002233574414740744147530In-frame
ENST000002233574414849744148575In-frame
ENST000002233574415174044151920In-frame

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Infer the effects of exon skipping event on protein functional features for AEBP1

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
ENST000002233574098115844147227441472999731044222246
ENST0000022335740981158441474074414753010451167246287
ENST0000022335740981158441484974414857512461323313339
ENST0000022335740981158441517404415192023432522679739

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
ENST000002233574098115844147227441472999731044222246
ENST0000022335740981158441474074414753010451167246287
ENST0000022335740981158441484974414857512461323313339
ENST0000022335740981158441517404415192023432522679739

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
Q8IUX72222461457Alternative sequenceID=VSP_033467;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039
Q8IUX7222246261158ChainID=PRO_0000333189;Note=Adipocyte enhancer-binding protein 1
Q8IUX722224647326Compositional biasNote=Pro-rich
Q8IUX72462871457Alternative sequenceID=VSP_033467;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039
Q8IUX7246287261158ChainID=PRO_0000333189;Note=Adipocyte enhancer-binding protein 1
Q8IUX724628747326Compositional biasNote=Pro-rich
Q8IUX7246287273273Natural variantID=VAR_043118;Note=P->T;Dbxref=dbSNP:rs2537188
Q8IUX73133391457Alternative sequenceID=VSP_033467;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039
Q8IUX7313339261158ChainID=PRO_0000333189;Note=Adipocyte enhancer-binding protein 1
Q8IUX731333947326Compositional biasNote=Pro-rich
Q8IUX7679739261158ChainID=PRO_0000333189;Note=Adipocyte enhancer-binding protein 1
Q8IUX76797395811158Natural variantID=VAR_080664;Note=In EDSCLL2. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:29606302;Dbxref=PMID:29606302
Q8IUX7679739555985RegionNote=Interaction with PTEN;Ontology_term=ECO:0000250;evidence=ECO:0000250
Q8IUX7679739715715Sequence conflictNote=R->G;Ontology_term=ECO:0000305;evidence=ECO:0000305


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
Q8IUX72222461457Alternative sequenceID=VSP_033467;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039
Q8IUX7222246261158ChainID=PRO_0000333189;Note=Adipocyte enhancer-binding protein 1
Q8IUX722224647326Compositional biasNote=Pro-rich
Q8IUX72462871457Alternative sequenceID=VSP_033467;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039
Q8IUX7246287261158ChainID=PRO_0000333189;Note=Adipocyte enhancer-binding protein 1
Q8IUX724628747326Compositional biasNote=Pro-rich
Q8IUX7246287273273Natural variantID=VAR_043118;Note=P->T;Dbxref=dbSNP:rs2537188
Q8IUX73133391457Alternative sequenceID=VSP_033467;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039
Q8IUX7313339261158ChainID=PRO_0000333189;Note=Adipocyte enhancer-binding protein 1
Q8IUX731333947326Compositional biasNote=Pro-rich
Q8IUX7679739261158ChainID=PRO_0000333189;Note=Adipocyte enhancer-binding protein 1
Q8IUX76797395811158Natural variantID=VAR_080664;Note=In EDSCLL2. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:29606302;Dbxref=PMID:29606302
Q8IUX7679739555985RegionNote=Interaction with PTEN;Ontology_term=ECO:0000250;evidence=ECO:0000250
Q8IUX7679739715715Sequence conflictNote=R->G;Ontology_term=ECO:0000305;evidence=ECO:0000305


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SNVs in the skipped exons for AEBP1

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
LUADTCGA-97-A4M7-01exon_skip_465680
44146145441464864414639944146399Frame_Shift_DelC-p.P171fs
LIHCTCGA-DD-A39Y-01exon_skip_465681
44147228441472994414728244147282Frame_Shift_DelG-p.R241fs
LIHCTCGA-DD-A39Y-01exon_skip_465688
44147408441475304414744344147443Frame_Shift_DelC-p.P260fs
ESCATCGA-IG-A5B8-01exon_skip_465688
44147408441475304414745444147454Frame_Shift_DelA-p.R262fs
ESCATCGA-IG-A5B8-01exon_skip_465688
44147408441475304414745444147454Frame_Shift_DelA-p.R263fs
ESCATCGA-IG-A5B8-01exon_skip_465688
44147408441475304414745444147454Frame_Shift_DelA-p.R265fs
PAADTCGA-IB-7651-01exon_skip_465690
44148498441485754414856044148560Nonsense_MutationGTp.E335*

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
EFO27_OVARY44146145441464864414644144146441Frame_Shift_DelC-p.P187fs
BT20_BREAST44146145441464864414644744146447Frame_Shift_DelC-p.P187fs
BICR18_UPPER_AERODIGESTIVE_TRACT44147228441472994414724844147249Frame_Shift_DelCA-p.Q230fs
SKUT1_SOFT_TISSUE44149614441497234414961944149619Frame_Shift_DelC-p.P387fs
SKUT1_SOFT_TISSUE44149256441497234414961944149619Frame_Shift_DelC-p.P387fs
P30OHK_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE44149614441497234414961944149619Frame_Shift_DelC-p.P387fs
P30OHK_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE44149256441497234414961944149619Frame_Shift_DelC-p.P387fs
BICR18_UPPER_AERODIGESTIVE_TRACT44147228441472994414725044147251Frame_Shift_Ins-TGp.P231fs
NALM6_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE44146145441464864414621244146212Missense_MutationGTp.K107N
CP67MEL_SKIN44146145441464864414623744146237Missense_MutationCTp.P116S
MFE319_ENDOMETRIUM44146145441464864414629544146295Missense_MutationCAp.P135Q
42MGBA_CENTRAL_NERVOUS_SYSTEM44146145441464864414632044146320Missense_MutationGCp.K143N
NCIH1963_LUNG44147228441472994414727144147271Missense_MutationCAp.D237E
LMSU_STOMACH44147408441475304414742044147420Missense_MutationGAp.R251Q
KYSE410_OESOPHAGUS44147408441475304414742244147422Missense_MutationCTp.R252C
A388_SKIN44147408441475304414746744147467Missense_MutationGAp.E267K
OVMIU_OVARY44148498441485754414850344148503Missense_MutationTCp.Y316H
MELHO_SKIN44149614441497234414963844149638Missense_MutationCTp.S392L
MELHO_SKIN44149256441497234414963844149638Missense_MutationCTp.S392L
HPBALL_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE44149614441497234414965344149653Missense_MutationAGp.D397G
HPBALL_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE44149256441497234414965344149653Missense_MutationAGp.D397G
HCT116_LARGE_INTESTINE44149614441497234414968844149688Missense_MutationGAp.G409S
HCT116_LARGE_INTESTINE44149256441497234414968844149688Missense_MutationGAp.G409S
NCIH1666_LUNG44150324441504084415034544150345Missense_MutationCGp.F474L
LNCAPCLONEFGC_PROSTATE44150324441504084415035244150352Missense_MutationGTp.G477C
NCIH2110_LUNG44151741441519204415174744151747Missense_MutationGAp.E682K
COGAR359_SOFT_TISSUE44151805441519204415183544151835Missense_MutationGAp.G711E
COGAR359_SOFT_TISSUE44151741441519204415183544151835Missense_MutationGAp.G711E
NCIH2110_LUNG44151805441519204415184044151840Missense_MutationGCp.E713Q
NCIH2110_LUNG44151741441519204415184044151840Missense_MutationGCp.E713Q
K029AX_SKIN44151805441519204415186244151862Missense_MutationAGp.Y720C
K029AX_SKIN44151741441519204415186244151862Missense_MutationAGp.Y720C
UMUC6_URINARY_TRACT44151805441519204415188144151881Missense_MutationCGp.N726K
UMUC6_URINARY_TRACT44151741441519204415188144151881Missense_MutationCGp.N726K
SBC3_LUNG44152851441529504415289144152891Missense_MutationGAp.G917D
SNU503_LARGE_INTESTINE44152851441529504415293744152937Missense_MutationCAp.H932Q
NCIH1155_LUNG44152851441529504415294844152948Missense_MutationCTp.T936I
MS1_LUNG44150324441504084415039944150399Nonsense_MutationTGp.Y492*
DU145_PROSTATE44151805441519204415185344151853Nonsense_MutationGAp.W717*
DU145_PROSTATE44151741441519204415185344151853Nonsense_MutationGAp.W717*
P31FUJ_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE44151805441519204415192044151920Splice_SiteGAp.T739T
P31FUJ_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE44151741441519204415192044151920Splice_SiteGAp.T739T

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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for AEBP1

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 AEBP1


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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for AEBP1


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RelatedDrugs for AEBP1

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 AEBP1

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