ExonSkipAD: functional annotation of exon skipping event in human

Gene summary for RABEP1

Gene summary

Gene information	Gene symbol	RABEP1
	Gene ID	9135
	Gene name	rabaptin, RAB GTPase binding effector protein 1
	Synonyms	RAB5EP\|RABPT5
	Cytomap	17p13.2
	Type of gene	protein-coding
	Description	rab GTPase-binding effector protein 1neurocrescinrabaptin-4rabaptin-5rabaptin-5alpharenal carcinoma antigen NY-REN-17
	Modification date	20200313
	UniProtAcc	A0A087WZZ3, I3L2B8, I3L456, K7ENJ9, Q05BX6, Q15276,
	Context	- 32574725(Identification and Genomic Analysis of Pedigrees With Exceptional Longevity Identifies Candidate Rare Variants)

Gene ontology of each this gene with evidence of Inferred from Direct Assay (IDA) from Entrez

Gene

GO ID

GO term

PubMed ID

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Gene structures and expression levels for RABEP1

Skipped exons in the ROSMAP, MSBB, and Mayo 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.

ENSG00000029725

Differentially expressed gene analysis across multiple brain tissues between AD and control.

Tissue type

DEG direction

Base mean exp.

log2FC(AD/control)

P-value

Adj. p-value

Differentially expressed isoform analysis across multiple brain tissues between AD and control.

Tissue type	DEG direction	ENST	Transcript info.	Base mean exp.	log2FC(AD/control)	P-value	Adjc. p-value
CB	UP	ENST00000341923.10	RABEP1-201:protein_coding:RABEP1	3.368147e+01	1.496762e+00	2.664654e-07	4.863806e-06

Landscape of isoform expressions across multiple brain tissues between AD and control.

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Exon skipping events with PSIs in ROSMAP, MSBB, and Mayo for RABEP1

Landscape of individual exon skipping event across AD tissues and controls (PSI heatmap).

All exon skipping events in AD cohorts.

Exon skip ID	chr	Exons involved in exon skipping	Skipped exon
exon_skip_100053	chr17	5362912:5363016:5365122:5365238:5368370:5368468	5365122:5365238
exon_skip_111508	chr17	5362912:5363016:5365122:5365238:5368370:5368415	5365122:5365238
exon_skip_115835	chr17	5373314:5373454:5377116:5377305:5378177:5378232	5377116:5377305
exon_skip_119654	chr17	5282487:5282520:5308694:5308822:5331949:5332152	5308694:5308822
exon_skip_121428	chr17	5354401:5354490:5356508:5356573:5361208:5361629	5356508:5356573
exon_skip_123305	chr17	5346790:5346925:5350451:5350629:5354359:5354490	5350451:5350629
exon_skip_130529	chr17	5354477:5354490:5356508:5356573:5361208:5361629	5356508:5356573
exon_skip_136256	chr17	5378177:5378232:5381389:5381505:5383122:5383223	5381389:5381505
exon_skip_145132	chr17	5354401:5354490:5356508:5356573:5361208:5361438	5356508:5356573
exon_skip_156008	chr17	5350451:5350629:5354359:5354490:5361208:5361629	5354359:5354490
exon_skip_164248	chr17	5365122:5365238:5368370:5368468:5373314:5373454	5368370:5368468
exon_skip_187788	chr17	5380364:5380462:5381389:5381505:5383122:5383223	5381389:5381505
exon_skip_243011	chr17	5350472:5350629:5354359:5354490:5361208:5361629	5354359:5354490
exon_skip_275910	chr17	5282501:5282520:5308694:5308822:5331949:5332152	5308694:5308822
exon_skip_291847	chr17	5332055:5332152:5335184:5335344:5338019:5338138	5335184:5335344
exon_skip_29622	chr17	5378177:5378232:5380364:5380462:5381389:5381505	5380364:5380462
exon_skip_46646	chr17	5335184:5335344:5338019:5338138:5346790:5346925	5338019:5338138
exon_skip_78746	chr17	5368370:5368468:5373314:5373454:5377116:5377305	5373314:5373454
exon_skip_87017	chr17	5346797:5346925:5350451:5350629:5354359:5354490	5350451:5350629

Differentially expressed PSI values of individual exon skipping events in multiple brain tissues between AD and control.

Exon skipping information

Tissue type

Avg(PSIs) in AD

Avg(PSIs) in control

Difference (PSI)

Adj. p-value

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Open reading frame (ORF) annotation in the exon skipping event for RABEP1

Open reading frame (ORF) of individual exon skipping events in ROSMAP based on the Ensembl gene structure combined from isoforms.

ENST	Start of skipped exon	End of skipped exon	ORF
ENST00000537505	5335184	5335344	Frame-shift
ENST00000537505	5350451	5350629	Frame-shift
ENST00000537505	5377116	5377305	Frame-shift
ENST00000537505	5308694	5308822	In-frame
ENST00000537505	5338019	5338138	In-frame
ENST00000537505	5354359	5354490	In-frame
ENST00000537505	5365122	5365238	In-frame
ENST00000537505	5368370	5368468	In-frame
ENST00000537505	5373314	5373454	In-frame
ENST00000537505	5380364	5380462	In-frame
ENST00000537505	5381389	5381505	In-frame

Open reading frame (ORF) of individual exon skipping events in MSBB based on the Ensembl gene structure combined from isoforms.

ENST	Start of skipped exon	End of skipped exon	ORF
ENST00000537505	5335184	5335344	Frame-shift
ENST00000537505	5350451	5350629	Frame-shift
ENST00000537505	5308694	5308822	In-frame
ENST00000537505	5338019	5338138	In-frame
ENST00000537505	5354359	5354490	In-frame
ENST00000537505	5365122	5365238	In-frame
ENST00000537505	5373314	5373454	In-frame
ENST00000537505	5380364	5380462	In-frame
ENST00000537505	5381389	5381505	In-frame

Open reading frame (ORF) of individual exon skipping events in Mayo based on the Ensembl gene structure combined from isoforms.

ENST	Start of skipped exon	End of skipped exon	ORF
ENST00000537505	5335184	5335344	Frame-shift
ENST00000537505	5350451	5350629	Frame-shift
ENST00000537505	5377116	5377305	Frame-shift
ENST00000537505	5308694	5308822	In-frame
ENST00000537505	5338019	5338138	In-frame
ENST00000537505	5354359	5354490	In-frame
ENST00000537505	5365122	5365238	In-frame
ENST00000537505	5373314	5373454	In-frame
ENST00000537505	5380364	5380462	In-frame
ENST00000537505	5381389	5381505	In-frame

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Infer the effects of exon skipping event on protein functional features for RABEP1

p-ENSG00000029725_img4.png
boxplot

Loci of skipped exons in ROSMAP across genomic, transcript, and protein sequence levels of In-frame cases.

ENST	Length of mRNA	Length of AA seq.	Genomic start	Genomic end	mRNA start	mRNA end	AA start	AA end
ENST00000537505	5382	862	5308694	5308822	223	350	12	54
ENST00000537505	5382	862	5338019	5338138	717	835	176	216
ENST00000537505	5382	862	5354359	5354490	1152	1282	321	365
ENST00000537505	5382	862	5365122	5365238	1857	1972	556	595
ENST00000537505	5382	862	5368370	5368468	1974	2071	595	628
ENST00000537505	5382	862	5373314	5373454	2073	2212	628	675
ENST00000537505	5382	862	5380364	5380462	2460	2557	757	790
ENST00000537505	5382	862	5381389	5381505	2559	2674	790	829

Loci of skipped exons in MSBB across genomic, transcript, and protein sequence levels of In-frame cases.

ENST	Length of mRNA	Length of AA seq.	Genomic start	Genomic end	mRNA start	mRNA end	AA start	AA end
ENST00000537505	5382	862	5308694	5308822	223	350	12	54
ENST00000537505	5382	862	5338019	5338138	717	835	176	216
ENST00000537505	5382	862	5354359	5354490	1152	1282	321	365
ENST00000537505	5382	862	5365122	5365238	1857	1972	556	595
ENST00000537505	5382	862	5373314	5373454	2073	2212	628	675
ENST00000537505	5382	862	5380364	5380462	2460	2557	757	790
ENST00000537505	5382	862	5381389	5381505	2559	2674	790	829

Loci of skipped exons in Mayo across genomic, transcript, and protein sequence levels of In-frame cases.

ENST	Length of mRNA	Length of AA seq.	Genomic start	Genomic end	mRNA start	mRNA end	AA start	AA end
ENST00000537505	5382	862	5308694	5308822	223	350	12	54
ENST00000537505	5382	862	5338019	5338138	717	835	176	216
ENST00000537505	5382	862	5354359	5354490	1152	1282	321	365
ENST00000537505	5382	862	5365122	5365238	1857	1972	556	595
ENST00000537505	5382	862	5373314	5373454	2073	2212	628	675
ENST00000537505	5382	862	5380364	5380462	2460	2557	757	790
ENST00000537505	5382	862	5381389	5381505	2559	2674	790	829

Lost protein functional features of individual exon skipping events in ROSMAP.

UniProt acc.	Start of exon skipping (AA)	End of exon skipping (AA)	Protein feature start (AA)	Protein feature end (AA)	Category of protein feature	Description of feature
Q15276	12	54	2	862	Chain	ID=PRO_0000187556;Note=Rab GTPase-binding effector protein 1
Q15276	12	54	11	345	Coiled coil	Ontology_term=ECO:0000255;evidence=ECO:0000255
Q15276	176	216	2	862	Chain	ID=PRO_0000187556;Note=Rab GTPase-binding effector protein 1
Q15276	176	216	11	345	Coiled coil	Ontology_term=ECO:0000255;evidence=ECO:0000255
Q15276	321	365	2	862	Chain	ID=PRO_0000187556;Note=Rab GTPase-binding effector protein 1
Q15276	321	365	11	345	Coiled coil	Ontology_term=ECO:0000255;evidence=ECO:0000255
Q15276	556	595	2	862	Chain	ID=PRO_0000187556;Note=Rab GTPase-binding effector protein 1
Q15276	556	595	534	816	Coiled coil	Ontology_term=ECO:0000255;evidence=ECO:0000255
Q15276	556	595	553	633	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4N3Y
Q15276	595	628	2	862	Chain	ID=PRO_0000187556;Note=Rab GTPase-binding effector protein 1
Q15276	595	628	534	816	Coiled coil	Ontology_term=ECO:0000255;evidence=ECO:0000255
Q15276	595	628	553	633	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4N3Y
Q15276	595	628	628	628	Sequence conflict	Note=M->I;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q15276	628	675	2	862	Chain	ID=PRO_0000187556;Note=Rab GTPase-binding effector protein 1
Q15276	628	675	534	816	Coiled coil	Ontology_term=ECO:0000255;evidence=ECO:0000255
Q15276	628	675	553	633	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4N3Y
Q15276	628	675	640	640	Natural variant	ID=VAR_028106;Note=E->G;Dbxref=dbSNP:rs3026099
Q15276	628	675	628	628	Sequence conflict	Note=M->I;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q15276	757	790	758	790	Alternative sequence	ID=VSP_010451;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:10698684;Dbxref=PMID:10698684
Q15276	757	790	2	862	Chain	ID=PRO_0000187556;Note=Rab GTPase-binding effector protein 1
Q15276	757	790	534	816	Coiled coil	Ontology_term=ECO:0000255;evidence=ECO:0000255
Q15276	790	829	758	790	Alternative sequence	ID=VSP_010451;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:10698684;Dbxref=PMID:10698684
Q15276	790	829	2	862	Chain	ID=PRO_0000187556;Note=Rab GTPase-binding effector protein 1
Q15276	790	829	534	816	Coiled coil	Ontology_term=ECO:0000255;evidence=ECO:0000255
Q15276	790	829	805	836	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:1TU3
Q15276	790	829	812	812	Mutagenesis	Note=No effect on RAB5A binding affinity. D->K;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:15378032;Dbxref=PMID:15378032
Q15276	790	829	815	815	Mutagenesis	Note=No effect on RAB5A binding affinity. E->K;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:15378032;Dbxref=PMID:15378032
Q15276	790	829	818	818	Mutagenesis	Note=Strongly decreases RAB5A binding affinity. Q->W;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:15378032;Dbxref=PMID:15378032
Q15276	790	829	820	820	Mutagenesis	Note=Strongly decreases RAB5A binding affinity. D->K;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:15378032;Dbxref=PMID:15378032
Q15276	790	829	821	821	Mutagenesis	Note=Strongly decreases RAB5A binding affinity. F->R;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:15378032;Dbxref=PMID:15378032
Q15276	790	829	822	822	Mutagenesis	Note=Strongly decreases RAB5A binding affinity. V->D;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:15378032;Dbxref=PMID:15378032
Q15276	790	829	826	826	Mutagenesis	Note=Strongly decreases RAB5A binding affinity. Q->A;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:15378032;Dbxref=PMID:15378032
Q15276	790	829	829	829	Mutagenesis	Note=Strongly decreases RAB5A binding affinity. Q->A;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:15378032;Dbxref=PMID:15378032

Lost protein functional features of individual exon skipping events in MSBB.

UniProt acc.	Start of exon skipping (AA)	End of exon skipping (AA)	Protein feature start (AA)	Protein feature end (AA)	Category of protein feature	Description of feature
Q15276	12	54	2	862	Chain	ID=PRO_0000187556;Note=Rab GTPase-binding effector protein 1
Q15276	12	54	11	345	Coiled coil	Ontology_term=ECO:0000255;evidence=ECO:0000255
Q15276	176	216	2	862	Chain	ID=PRO_0000187556;Note=Rab GTPase-binding effector protein 1
Q15276	176	216	11	345	Coiled coil	Ontology_term=ECO:0000255;evidence=ECO:0000255
Q15276	321	365	2	862	Chain	ID=PRO_0000187556;Note=Rab GTPase-binding effector protein 1
Q15276	321	365	11	345	Coiled coil	Ontology_term=ECO:0000255;evidence=ECO:0000255
Q15276	556	595	2	862	Chain	ID=PRO_0000187556;Note=Rab GTPase-binding effector protein 1
Q15276	556	595	534	816	Coiled coil	Ontology_term=ECO:0000255;evidence=ECO:0000255
Q15276	556	595	553	633	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4N3Y
Q15276	628	675	2	862	Chain	ID=PRO_0000187556;Note=Rab GTPase-binding effector protein 1
Q15276	628	675	534	816	Coiled coil	Ontology_term=ECO:0000255;evidence=ECO:0000255
Q15276	628	675	553	633	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4N3Y
Q15276	628	675	640	640	Natural variant	ID=VAR_028106;Note=E->G;Dbxref=dbSNP:rs3026099
Q15276	628	675	628	628	Sequence conflict	Note=M->I;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q15276	757	790	758	790	Alternative sequence	ID=VSP_010451;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:10698684;Dbxref=PMID:10698684
Q15276	757	790	2	862	Chain	ID=PRO_0000187556;Note=Rab GTPase-binding effector protein 1
Q15276	757	790	534	816	Coiled coil	Ontology_term=ECO:0000255;evidence=ECO:0000255
Q15276	790	829	758	790	Alternative sequence	ID=VSP_010451;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:10698684;Dbxref=PMID:10698684
Q15276	790	829	2	862	Chain	ID=PRO_0000187556;Note=Rab GTPase-binding effector protein 1
Q15276	790	829	534	816	Coiled coil	Ontology_term=ECO:0000255;evidence=ECO:0000255
Q15276	790	829	805	836	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:1TU3
Q15276	790	829	812	812	Mutagenesis	Note=No effect on RAB5A binding affinity. D->K;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:15378032;Dbxref=PMID:15378032
Q15276	790	829	815	815	Mutagenesis	Note=No effect on RAB5A binding affinity. E->K;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:15378032;Dbxref=PMID:15378032
Q15276	790	829	818	818	Mutagenesis	Note=Strongly decreases RAB5A binding affinity. Q->W;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:15378032;Dbxref=PMID:15378032
Q15276	790	829	820	820	Mutagenesis	Note=Strongly decreases RAB5A binding affinity. D->K;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:15378032;Dbxref=PMID:15378032
Q15276	790	829	821	821	Mutagenesis	Note=Strongly decreases RAB5A binding affinity. F->R;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:15378032;Dbxref=PMID:15378032
Q15276	790	829	822	822	Mutagenesis	Note=Strongly decreases RAB5A binding affinity. V->D;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:15378032;Dbxref=PMID:15378032
Q15276	790	829	826	826	Mutagenesis	Note=Strongly decreases RAB5A binding affinity. Q->A;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:15378032;Dbxref=PMID:15378032
Q15276	790	829	829	829	Mutagenesis	Note=Strongly decreases RAB5A binding affinity. Q->A;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:15378032;Dbxref=PMID:15378032

Lost protein functional features of individual exon skipping events in Mayo.

UniProt acc.	Start of exon skipping (AA)	End of exon skipping (AA)	Protein feature start (AA)	Protein feature end (AA)	Category of protein feature	Description of feature
Q15276	12	54	2	862	Chain	ID=PRO_0000187556;Note=Rab GTPase-binding effector protein 1
Q15276	12	54	11	345	Coiled coil	Ontology_term=ECO:0000255;evidence=ECO:0000255
Q15276	176	216	2	862	Chain	ID=PRO_0000187556;Note=Rab GTPase-binding effector protein 1
Q15276	176	216	11	345	Coiled coil	Ontology_term=ECO:0000255;evidence=ECO:0000255
Q15276	321	365	2	862	Chain	ID=PRO_0000187556;Note=Rab GTPase-binding effector protein 1
Q15276	321	365	11	345	Coiled coil	Ontology_term=ECO:0000255;evidence=ECO:0000255
Q15276	556	595	2	862	Chain	ID=PRO_0000187556;Note=Rab GTPase-binding effector protein 1
Q15276	556	595	534	816	Coiled coil	Ontology_term=ECO:0000255;evidence=ECO:0000255
Q15276	556	595	553	633	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4N3Y
Q15276	628	675	2	862	Chain	ID=PRO_0000187556;Note=Rab GTPase-binding effector protein 1
Q15276	628	675	534	816	Coiled coil	Ontology_term=ECO:0000255;evidence=ECO:0000255
Q15276	628	675	553	633	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4N3Y
Q15276	628	675	640	640	Natural variant	ID=VAR_028106;Note=E->G;Dbxref=dbSNP:rs3026099
Q15276	628	675	628	628	Sequence conflict	Note=M->I;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q15276	757	790	758	790	Alternative sequence	ID=VSP_010451;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:10698684;Dbxref=PMID:10698684
Q15276	757	790	2	862	Chain	ID=PRO_0000187556;Note=Rab GTPase-binding effector protein 1
Q15276	757	790	534	816	Coiled coil	Ontology_term=ECO:0000255;evidence=ECO:0000255
Q15276	790	829	758	790	Alternative sequence	ID=VSP_010451;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:10698684;Dbxref=PMID:10698684
Q15276	790	829	2	862	Chain	ID=PRO_0000187556;Note=Rab GTPase-binding effector protein 1
Q15276	790	829	534	816	Coiled coil	Ontology_term=ECO:0000255;evidence=ECO:0000255
Q15276	790	829	805	836	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:1TU3
Q15276	790	829	812	812	Mutagenesis	Note=No effect on RAB5A binding affinity. D->K;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:15378032;Dbxref=PMID:15378032
Q15276	790	829	815	815	Mutagenesis	Note=No effect on RAB5A binding affinity. E->K;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:15378032;Dbxref=PMID:15378032
Q15276	790	829	818	818	Mutagenesis	Note=Strongly decreases RAB5A binding affinity. Q->W;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:15378032;Dbxref=PMID:15378032
Q15276	790	829	820	820	Mutagenesis	Note=Strongly decreases RAB5A binding affinity. D->K;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:15378032;Dbxref=PMID:15378032
Q15276	790	829	821	821	Mutagenesis	Note=Strongly decreases RAB5A binding affinity. F->R;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:15378032;Dbxref=PMID:15378032
Q15276	790	829	822	822	Mutagenesis	Note=Strongly decreases RAB5A binding affinity. V->D;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:15378032;Dbxref=PMID:15378032
Q15276	790	829	826	826	Mutagenesis	Note=Strongly decreases RAB5A binding affinity. Q->A;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:15378032;Dbxref=PMID:15378032
Q15276	790	829	829	829	Mutagenesis	Note=Strongly decreases RAB5A binding affinity. Q->A;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:15378032;Dbxref=PMID:15378032

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3'-UTR located exon skipping events that lost miRNA binding sites in RABEP1

3'-UTR exon skipping evnets lost miRNA binding.

Tissue type

ENST

Exon skip start

Exon skip end

microRNA

Binding site by TargetScan

Binding type by TargetScan

Bdinding site by miRanda

Score of miRanda

Energy by miRanda

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SNVs in the skipped exons for RABEP1

- Differential PSIs between mutated versus non-mutated samples.

- Depth of Coverage in the skipped exon of the mutated samples.

- Sashimi plot in the skipped exon of the mutated samples.

- Non-synonymous mutations located in the skipped exons.

Cancer type

Sample

ESID

Skipped exon start

Skipped exon end

Mutation start

Mutation end

Mutation type

Reference seq

Mutation seq

AAchange

- Non-synonymous mutations located in the skipped exons in CCLE.

Sample

Skipped exon start

Skipped exon end

Mutation start

Mutation end

Mutation type

Reference seq

Mutation seq

AAchange

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AD stage-associated exon skippint events for RABEP1

Associated exon skipping events with Braak staging or Clinical Dementia Rating (CDR).

AD stage info

Cohort

Tissue

SE id

Coefficient

P-value

Chromosome

Strand

E1 start

E1 end

Skipped start

Skipped end

E2 start

E2 end

ADstage

MSBB

IFG

exon_skip_29622

3.946847e-01

3.766413e-02

chr17

5378177

5378232

5380364

5380462

5381389

5381505

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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for RABEP1

sQTL information located at the skipped exons.

Tissue type

Exon skip ID

SNP id

Location

P-value

FDR

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Correlation with RNA binding proteins (RBPs) for RABEP1

Correlated RBP and related information.

Tissue type	RBP name	Exon skip ID	Correlation coeifficient	P-value
CB	SRSF4	exon_skip_29622	-4.890421e-01	7.043234e-11

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RelatedDrugs for RABEP1

Approved drugs targeting this gene.
(DrugBank Version 5.1.0 2018-04-02)

UniProtAcc

DrugBank ID

Drug name

Drug activity

Drug type

Drug status

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RelatedDiseases for RABEP1

Diseases associated with this gene.
(DisGeNet 4.0)

Gene

Disease ID

Disease name

# pubmeds

Source

	Gene summary
	Gene structures and expression levels
	Exon skipping events with PSIs in RPSMAP, MSBB, and Mayo
	Open reading frame (ORF) annotation in the exon skipping event
	Exon skipping events in the canonical protein sequence
	3'-UTR located exon skipping events lost miRNA binding sites
	SNVs in the skipped exons with depth of coverage
	AD stage-associated exon skipping events
	Splicing Quantitative Trait Loci (sQTLs) in the skipped exons
	Correlation with RNA binding proteins (RBPs)
	Related drugs with this gene
	Related diseases with this gene

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Gene summary for RABEP1

Gene structures and expression levels for RABEP1

Exon skipping events with PSIs in ROSMAP, MSBB, and Mayo for RABEP1

Open reading frame (ORF) annotation in the exon skipping event for RABEP1

Infer the effects of exon skipping event on protein functional features for RABEP1

3'-UTR located exon skipping events that lost miRNA binding sites in RABEP1

SNVs in the skipped exons for RABEP1

AD stage-associated exon skippint events for RABEP1

Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for RABEP1

Correlation with RNA binding proteins (RBPs) for RABEP1

RelatedDrugs for RABEP1

RelatedDiseases for RABEP1