ExonSkipAD: functional annotation of exon skipping event in human

Gene summary for ABCB9

Gene summary

Gene information	Gene symbol	ABCB9
	Gene ID	23457
	Gene name	ATP binding cassette subfamily B member 9
	Synonyms	EST122234\|TAPL
	Cytomap	12q24.31
	Type of gene	protein-coding
	Description	ATP-binding cassette sub-family B member 9ABC transporter 9 proteinATP-binding cassette, sub-family B (MDR/TAP), member 9TAP-like protein
	Modification date	20200313
	UniProtAcc	A0A024RBU1, F5GX86, F5GXZ5, F5GYI2, F5H0G0, F5H4Y2, F5H5F9, F5H5I5, F5H5Q0, F5H7U2, H7C478, Q6P2Q0, Q9NP78,
	Context

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

Gene	GO ID	GO term	PubMed ID
ABCB9	GO:0002474	antigen processing and presentation of peptide antigen via MHC class I	17977821
ABCB9	GO:0015833	peptide transport	17977821\|18434309\|22641697

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Gene structures and expression levels for ABCB9

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.

ENSG00000150967

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	DOWN	ENST00000280560.13	ABCB9-201:protein_coding:ABCB9	3.697005e+02	-8.249473e-01	1.407635e-03	6.885291e-03
TC	UP	ENST00000546289.5	ABCB9-220:protein_coding:ABCB9	5.097323e+01	1.103802e+00	2.254511e-08	1.772123e-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 ABCB9

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_100061	chr12	122935273:122935431:122940111:122940284:122944391:122944519	122940111:122940284
exon_skip_127444	chr12	122948624:122948829:122949788:122949867:122950451:122950565	122949788:122949867
exon_skip_129796	chr12	122940207:122940284:122940807:122940995:122946025:122946220	122940807:122940995
exon_skip_136176	chr12	122940207:122940284:122940807:122940995:122944391:122944498	122940807:122940995
exon_skip_13646	chr12	122932305:122932328:122935272:122935431:122940111:122940284	122935272:122935431
exon_skip_148900	chr12	122948624:122948829:122949788:122949918:122950451:122950565	122949788:122949918
exon_skip_198636	chr12	122940946:122940995:122944391:122944519:122946025:122946220	122944391:122944519
exon_skip_210680	chr12	122920974:122921043:122932192:122932328:122935272:122935431	122932192:122932328
exon_skip_221121	chr12	122948624:122948829:122949788:122949904:122950451:122950565	122949788:122949904
exon_skip_233930	chr12	122932192:122932328:122935272:122935431:122940111:122940284	122935272:122935431
exon_skip_244760	chr12	122940207:122940284:122944391:122944519:122946025:122946222	122944391:122944519
exon_skip_248863	chr12	122940207:122940284:122940807:122940995:122946025:122946222	122940807:122940995
exon_skip_25249	chr12	122940207:122940284:122940807:122940995:122944391:122944519	122940807:122940995
exon_skip_261992	chr12	122930011:122930171:122932192:122932328:122935272:122935431	122932192:122932328
exon_skip_265363	chr12	122940946:122940995:122944391:122944519:122946025:122946222	122944391:122944519
exon_skip_281527	chr12	122940207:122940284:122940807:122940995:122944391:122944458	122940807:122940995
exon_skip_88881	chr12	122940207:122940284:122944391:122944519:122946025:122946220	122944391:122944519

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
exon_skip_281527	ROSMAP_PCC	5.420161e-01	6.478571e-01	-1.058410e-01	9.493153e-05
exon_skip_25249	MSBB_IFG	5.693333e-01	7.400000e-01	-1.706667e-01	3.228745e-02
exon_skip_114303	Mayo_CB	3.654878e-01	5.036986e-01	-1.382108e-01	9.045105e-06
exon_skip_25249	Mayo_CB	5.565854e-01	6.579221e-01	-1.013367e-01	3.233817e-05

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Open reading frame (ORF) annotation in the exon skipping event for ABCB9

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
ENST00000280560	122932192	122932328	Frame-shift
ENST00000392439	122932192	122932328	Frame-shift
ENST00000542678	122932192	122932328	Frame-shift
ENST00000280560	122935272	122935431	Frame-shift
ENST00000392439	122935272	122935431	Frame-shift
ENST00000542678	122935272	122935431	Frame-shift
ENST00000280560	122940807	122940995	In-frame
ENST00000392439	122940807	122940995	In-frame
ENST00000542678	122940807	122940995	In-frame
ENST00000280560	122944391	122944519	In-frame
ENST00000392439	122944391	122944519	In-frame
ENST00000542678	122944391	122944519	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
ENST00000280560	122940807	122940995	In-frame
ENST00000392439	122940807	122940995	In-frame
ENST00000542678	122940807	122940995	In-frame
ENST00000280560	122944391	122944519	In-frame
ENST00000392439	122944391	122944519	In-frame
ENST00000542678	122944391	122944519	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
ENST00000280560	122932192	122932328	Frame-shift
ENST00000392439	122932192	122932328	Frame-shift
ENST00000542678	122932192	122932328	Frame-shift
ENST00000280560	122935272	122935431	Frame-shift
ENST00000392439	122935272	122935431	Frame-shift
ENST00000542678	122935272	122935431	Frame-shift
ENST00000280560	122949788	122949918	Frame-shift
ENST00000392439	122949788	122949918	Frame-shift
ENST00000542678	122949788	122949918	Frame-shift
ENST00000280560	122940807	122940995	In-frame
ENST00000392439	122940807	122940995	In-frame
ENST00000542678	122940807	122940995	In-frame
ENST00000280560	122944391	122944519	In-frame
ENST00000392439	122944391	122944519	In-frame
ENST00000542678	122944391	122944519	In-frame

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Infer the effects of exon skipping event on protein functional features for ABCB9

p-ENSG00000150967_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
ENST00000280560	3534	766	122944391	122944519	1549	1676	417	459
ENST00000392439	3808	766	122944391	122944519	1830	1957	417	459
ENST00000542678	6068	766	122944391	122944519	4091	4218	417	459
ENST00000280560	3534	766	122940807	122940995	1678	1865	460	522
ENST00000392439	3808	766	122940807	122940995	1959	2146	460	522
ENST00000542678	6068	766	122940807	122940995	4220	4407	460	522

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
ENST00000280560	3534	766	122944391	122944519	1549	1676	417	459
ENST00000392439	3808	766	122944391	122944519	1830	1957	417	459
ENST00000542678	6068	766	122944391	122944519	4091	4218	417	459
ENST00000280560	3534	766	122940807	122940995	1678	1865	460	522
ENST00000392439	3808	766	122940807	122940995	1959	2146	460	522
ENST00000542678	6068	766	122940807	122940995	4220	4407	460	522

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
ENST00000280560	3534	766	122944391	122944519	1549	1676	417	459
ENST00000392439	3808	766	122944391	122944519	1830	1957	417	459
ENST00000542678	6068	766	122944391	122944519	4091	4218	417	459
ENST00000280560	3534	766	122940807	122940995	1678	1865	460	522
ENST00000392439	3808	766	122940807	122940995	1959	2146	460	522
ENST00000542678	6068	766	122940807	122940995	4220	4407	460	522

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
Q9NP78	417	459	418	460	Alternative sequence	ID=VSP_000027;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:10748049;Dbxref=PMID:10748049
Q9NP78	417	459	418	460	Alternative sequence	ID=VSP_000027;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:10748049;Dbxref=PMID:10748049
Q9NP78	417	459	418	460	Alternative sequence	ID=VSP_000027;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:10748049;Dbxref=PMID:10748049
Q9NP78	417	459	1	766	Chain	ID=PRO_0000000252;Note=ATP-binding cassette sub-family B member 9
Q9NP78	417	459	1	766	Chain	ID=PRO_0000000252;Note=ATP-binding cassette sub-family B member 9
Q9NP78	417	459	1	766	Chain	ID=PRO_0000000252;Note=ATP-binding cassette sub-family B member 9
Q9NP78	417	459	188	471	Domain	Note=ABC transmembrane type-1;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00441
Q9NP78	417	459	188	471	Domain	Note=ABC transmembrane type-1;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00441
Q9NP78	417	459	188	471	Domain	Note=ABC transmembrane type-1;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00441
Q9NP78	417	459	416	436	Transmembrane	Note=Helical;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00441
Q9NP78	417	459	416	436	Transmembrane	Note=Helical;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00441
Q9NP78	417	459	416	436	Transmembrane	Note=Helical;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00441
Q9NP78	460	522	418	460	Alternative sequence	ID=VSP_000027;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:10748049;Dbxref=PMID:10748049
Q9NP78	460	522	418	460	Alternative sequence	ID=VSP_000027;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:10748049;Dbxref=PMID:10748049
Q9NP78	460	522	418	460	Alternative sequence	ID=VSP_000027;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:10748049;Dbxref=PMID:10748049
Q9NP78	460	522	461	523	Alternative sequence	ID=VSP_044884;Note=In isoform 6. Missing;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q9NP78	460	522	461	523	Alternative sequence	ID=VSP_044884;Note=In isoform 6. Missing;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q9NP78	460	522	461	523	Alternative sequence	ID=VSP_044884;Note=In isoform 6. Missing;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q9NP78	460	522	1	766	Chain	ID=PRO_0000000252;Note=ATP-binding cassette sub-family B member 9
Q9NP78	460	522	1	766	Chain	ID=PRO_0000000252;Note=ATP-binding cassette sub-family B member 9
Q9NP78	460	522	1	766	Chain	ID=PRO_0000000252;Note=ATP-binding cassette sub-family B member 9
Q9NP78	460	522	188	471	Domain	Note=ABC transmembrane type-1;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00441
Q9NP78	460	522	188	471	Domain	Note=ABC transmembrane type-1;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00441
Q9NP78	460	522	188	471	Domain	Note=ABC transmembrane type-1;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00441
Q9NP78	460	522	504	740	Domain	Note=ABC transporter;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00434
Q9NP78	460	522	504	740	Domain	Note=ABC transporter;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00434
Q9NP78	460	522	504	740	Domain	Note=ABC transporter;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00434

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
Q9NP78	417	459	418	460	Alternative sequence	ID=VSP_000027;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:10748049;Dbxref=PMID:10748049
Q9NP78	417	459	418	460	Alternative sequence	ID=VSP_000027;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:10748049;Dbxref=PMID:10748049
Q9NP78	417	459	418	460	Alternative sequence	ID=VSP_000027;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:10748049;Dbxref=PMID:10748049
Q9NP78	417	459	1	766	Chain	ID=PRO_0000000252;Note=ATP-binding cassette sub-family B member 9
Q9NP78	417	459	1	766	Chain	ID=PRO_0000000252;Note=ATP-binding cassette sub-family B member 9
Q9NP78	417	459	1	766	Chain	ID=PRO_0000000252;Note=ATP-binding cassette sub-family B member 9
Q9NP78	417	459	188	471	Domain	Note=ABC transmembrane type-1;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00441
Q9NP78	417	459	188	471	Domain	Note=ABC transmembrane type-1;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00441
Q9NP78	417	459	188	471	Domain	Note=ABC transmembrane type-1;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00441
Q9NP78	417	459	416	436	Transmembrane	Note=Helical;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00441
Q9NP78	417	459	416	436	Transmembrane	Note=Helical;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00441
Q9NP78	417	459	416	436	Transmembrane	Note=Helical;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00441
Q9NP78	460	522	418	460	Alternative sequence	ID=VSP_000027;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:10748049;Dbxref=PMID:10748049
Q9NP78	460	522	418	460	Alternative sequence	ID=VSP_000027;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:10748049;Dbxref=PMID:10748049
Q9NP78	460	522	418	460	Alternative sequence	ID=VSP_000027;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:10748049;Dbxref=PMID:10748049
Q9NP78	460	522	461	523	Alternative sequence	ID=VSP_044884;Note=In isoform 6. Missing;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q9NP78	460	522	461	523	Alternative sequence	ID=VSP_044884;Note=In isoform 6. Missing;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q9NP78	460	522	461	523	Alternative sequence	ID=VSP_044884;Note=In isoform 6. Missing;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q9NP78	460	522	1	766	Chain	ID=PRO_0000000252;Note=ATP-binding cassette sub-family B member 9
Q9NP78	460	522	1	766	Chain	ID=PRO_0000000252;Note=ATP-binding cassette sub-family B member 9
Q9NP78	460	522	1	766	Chain	ID=PRO_0000000252;Note=ATP-binding cassette sub-family B member 9
Q9NP78	460	522	188	471	Domain	Note=ABC transmembrane type-1;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00441
Q9NP78	460	522	188	471	Domain	Note=ABC transmembrane type-1;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00441
Q9NP78	460	522	188	471	Domain	Note=ABC transmembrane type-1;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00441
Q9NP78	460	522	504	740	Domain	Note=ABC transporter;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00434
Q9NP78	460	522	504	740	Domain	Note=ABC transporter;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00434
Q9NP78	460	522	504	740	Domain	Note=ABC transporter;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00434

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
Q9NP78	417	459	418	460	Alternative sequence	ID=VSP_000027;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:10748049;Dbxref=PMID:10748049
Q9NP78	417	459	418	460	Alternative sequence	ID=VSP_000027;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:10748049;Dbxref=PMID:10748049
Q9NP78	417	459	418	460	Alternative sequence	ID=VSP_000027;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:10748049;Dbxref=PMID:10748049
Q9NP78	417	459	1	766	Chain	ID=PRO_0000000252;Note=ATP-binding cassette sub-family B member 9
Q9NP78	417	459	1	766	Chain	ID=PRO_0000000252;Note=ATP-binding cassette sub-family B member 9
Q9NP78	417	459	1	766	Chain	ID=PRO_0000000252;Note=ATP-binding cassette sub-family B member 9
Q9NP78	417	459	188	471	Domain	Note=ABC transmembrane type-1;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00441
Q9NP78	417	459	188	471	Domain	Note=ABC transmembrane type-1;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00441
Q9NP78	417	459	188	471	Domain	Note=ABC transmembrane type-1;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00441
Q9NP78	417	459	416	436	Transmembrane	Note=Helical;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00441
Q9NP78	417	459	416	436	Transmembrane	Note=Helical;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00441
Q9NP78	417	459	416	436	Transmembrane	Note=Helical;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00441
Q9NP78	460	522	418	460	Alternative sequence	ID=VSP_000027;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:10748049;Dbxref=PMID:10748049
Q9NP78	460	522	418	460	Alternative sequence	ID=VSP_000027;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:10748049;Dbxref=PMID:10748049
Q9NP78	460	522	418	460	Alternative sequence	ID=VSP_000027;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:10748049;Dbxref=PMID:10748049
Q9NP78	460	522	461	523	Alternative sequence	ID=VSP_044884;Note=In isoform 6. Missing;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q9NP78	460	522	461	523	Alternative sequence	ID=VSP_044884;Note=In isoform 6. Missing;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q9NP78	460	522	461	523	Alternative sequence	ID=VSP_044884;Note=In isoform 6. Missing;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q9NP78	460	522	1	766	Chain	ID=PRO_0000000252;Note=ATP-binding cassette sub-family B member 9
Q9NP78	460	522	1	766	Chain	ID=PRO_0000000252;Note=ATP-binding cassette sub-family B member 9
Q9NP78	460	522	1	766	Chain	ID=PRO_0000000252;Note=ATP-binding cassette sub-family B member 9
Q9NP78	460	522	188	471	Domain	Note=ABC transmembrane type-1;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00441
Q9NP78	460	522	188	471	Domain	Note=ABC transmembrane type-1;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00441
Q9NP78	460	522	188	471	Domain	Note=ABC transmembrane type-1;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00441
Q9NP78	460	522	504	740	Domain	Note=ABC transporter;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00434
Q9NP78	460	522	504	740	Domain	Note=ABC transporter;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00434
Q9NP78	460	522	504	740	Domain	Note=ABC transporter;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00434

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3'-UTR located exon skipping events that lost miRNA binding sites in ABCB9

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 ABCB9

- 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 ABCB9

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

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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for ABCB9

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 ABCB9

Correlated RBP and related information.

Tissue type	RBP name	Exon skip ID	Correlation coeifficient	P-value
CB	TARDBP	exon_skip_114303	-4.576281e-01	2.143253e-09
CB	RBM6	exon_skip_25249	-4.178124e-01	4.263353e-08
CB	CNOT4	exon_skip_25249	-4.201430e-01	3.521522e-08
CB	RBM6	exon_skip_129796	-4.464428e-01	4.531293e-07
CB	NUP42	exon_skip_129796	4.121550e-01	3.889199e-06
IFG	TARDBP	exon_skip_25249	-7.839733e-01	5.829207e-06
IFG	RBM25	exon_skip_25249	-6.010462e-01	1.895197e-03
IFG	ZNF326	exon_skip_25249	-6.965148e-01	1.562964e-04
IFG	RBM6	exon_skip_25249	-8.401581e-01	2.806569e-07
IFG	CNOT4	exon_skip_25249	-7.464059e-01	2.808786e-05
IFG	RBM5	exon_skip_25249	-7.582764e-01	1.761539e-05
IFG	IGF2BP3	exon_skip_25249	-6.942203e-01	1.677609e-04
IFG	MBNL1	exon_skip_25249	-4.189902e-01	4.155894e-02
IFG	PCBP2	exon_skip_25249	-7.482590e-01	2.615842e-05
TC	RBM25	exon_skip_136176	4.121268e-01	9.922666e-08
TC	RBM6	exon_skip_136176	-4.040374e-01	1.852846e-07
TC	SRSF5	exon_skip_136176	4.329643e-01	1.837512e-08

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RelatedDrugs for ABCB9

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 ABCB9

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 ABCB9

Gene structures and expression levels for ABCB9

Exon skipping events with PSIs in ROSMAP, MSBB, and Mayo for ABCB9

Open reading frame (ORF) annotation in the exon skipping event for ABCB9

Infer the effects of exon skipping event on protein functional features for ABCB9

3'-UTR located exon skipping events that lost miRNA binding sites in ABCB9

SNVs in the skipped exons for ABCB9

AD stage-associated exon skippint events for ABCB9

Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for ABCB9

Correlation with RNA binding proteins (RBPs) for ABCB9

RelatedDrugs for ABCB9

RelatedDiseases for ABCB9