ExonSkipAD: functional annotation of exon skipping event in human

Gene summary for SLC4A10

Gene summary

Gene information	Gene symbol	SLC4A10
	Gene ID	57282
	Gene name	solute carrier family 4 member 10
	Synonyms	NBCn2\|NCBE
	Cytomap	2q24.2
	Type of gene	protein-coding
	Description	sodium-driven chloride bicarbonate exchangersolute carrier family 4, sodium bicarbonate cotransporter-like, member 10solute carrier family 4, sodium bicarbonate transporter, member 10
	Modification date	20200313
	UniProtAcc	C9J240, E7EW28, F8WDX9, Q53SB3, Q6U841,
	Context	- 21487536(Choroidal Proteins Involved in Cerebrospinal Fluid Production May Be Potential Drug Targets for Alzheimer's Disease Therapy)

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 SLC4A10

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.

ENSG00000144290

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

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 SLC4A10

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_102694	chr2	161872301:161872384:161873916:161874005:161879131:161879288	161873916:161874005
exon_skip_113729	chr2	161882357:161882444:161894679:161894825:161900911:161901011	161894679:161894825
exon_skip_11589	chr2	161879131:161879288:161882357:161882444:161894679:161894756	161882357:161882444
exon_skip_127252	chr2	161976762:161976876:161977722:161977760:161983179:161983245	161977722:161977760
exon_skip_148336	chr2	161950687:161950848:161956989:161957240:161958487:161958555	161956989:161957240
exon_skip_171930	chr2	161624461:161624566:161770973:161771054:161804449:161804595	161770973:161771054
exon_skip_175870	chr2	161942792:161942897:161947566:161947727:161949148:161949261	161947566:161947727
exon_skip_19085	chr2	161708694:161708829:161709762:161709888:161710618:161710751	161709762:161709888
exon_skip_206906	chr2	161624461:161624566:161708694:161708829:161770973:161771035	161708694:161708829
exon_skip_211244	chr2	161976760:161976876:161977722:161977760:161983179:161983245	161977722:161977760
exon_skip_228050	chr2	161620915:161620978:161622229:161622371:161624111:161624195	161622229:161622371
exon_skip_242474	chr2	161904004:161904178:161904776:161904909:161905642:161905887	161904776:161904909
exon_skip_254877	chr2	161624461:161624566:161710618:161710751:161770973:161771035	161710618:161710751
exon_skip_262562	chr2	161956989:161957240:161958487:161958555:161964135:161964308	161958487:161958555
exon_skip_277502	chr2	161804449:161804595:161839789:161839927:161854970:161855130	161839789:161839927
exon_skip_279123	chr2	161872296:161872384:161873916:161874005:161879131:161879288	161873916:161874005
exon_skip_285768	chr2	161879131:161879288:161882357:161882444:161894679:161894825	161882357:161882444
exon_skip_295130	chr2	161900911:161901011:161902028:161902164:161904004:161904178	161902028:161902164
exon_skip_296133	chr2	161964146:161964308:161965051:161965173:161974249:161974316	161965051:161965173
exon_skip_296452	chr2	161949148:161949261:161950687:161950848:161956989:161957240	161950687:161950848
exon_skip_40868	chr2	161964135:161964308:161965051:161965173:161974249:161974316	161965051:161965173
exon_skip_42847	chr2	161854970:161855130:161862874:161863062:161872293:161872384	161862874:161863062
exon_skip_49329	chr2	161770973:161771054:161804449:161804595:161839789:161839876	161804449:161804595
exon_skip_58350	chr2	161900914:161901011:161902028:161902164:161904004:161904178	161902028:161902164
exon_skip_79105	chr2	161942792:161942897:161947566:161947727:161949148:161949159	161947566:161947727
exon_skip_99530	chr2	161839789:161839927:161854970:161855130:161862874:161863062	161854970:161855130

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 SLC4A10

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
ENST00000446997	161977722	161977760	3UTR-3CDS
ENST00000446997	161770973	161771054	Frame-shift
ENST00000446997	161839789	161839927	Frame-shift
ENST00000446997	161854970	161855130	Frame-shift
ENST00000446997	161882357	161882444	Frame-shift
ENST00000446997	161904776	161904909	Frame-shift
ENST00000446997	161804449	161804595	In-frame
ENST00000446997	161862874	161863062	In-frame
ENST00000446997	161873916	161874005	In-frame
ENST00000446997	161894679	161894825	In-frame
ENST00000446997	161947566	161947727	In-frame
ENST00000446997	161950687	161950848	In-frame
ENST00000446997	161956989	161957240	In-frame
ENST00000446997	161958487	161958555	In-frame
ENST00000446997	161965051	161965173	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
ENST00000446997	161977722	161977760	3UTR-3CDS
ENST00000446997	161770973	161771054	Frame-shift
ENST00000446997	161839789	161839927	Frame-shift
ENST00000446997	161854970	161855130	Frame-shift
ENST00000446997	161882357	161882444	Frame-shift
ENST00000446997	161904776	161904909	Frame-shift
ENST00000446997	161804449	161804595	In-frame
ENST00000446997	161862874	161863062	In-frame
ENST00000446997	161873916	161874005	In-frame
ENST00000446997	161894679	161894825	In-frame
ENST00000446997	161947566	161947727	In-frame
ENST00000446997	161956989	161957240	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
ENST00000446997	161977722	161977760	3UTR-3CDS
ENST00000446997	161770973	161771054	Frame-shift
ENST00000446997	161854970	161855130	Frame-shift
ENST00000446997	161882357	161882444	Frame-shift
ENST00000446997	161904776	161904909	Frame-shift
ENST00000446997	161804449	161804595	In-frame
ENST00000446997	161862874	161863062	In-frame
ENST00000446997	161873916	161874005	In-frame
ENST00000446997	161894679	161894825	In-frame
ENST00000446997	161947566	161947727	In-frame
ENST00000446997	161956989	161957240	In-frame
ENST00000446997	161958487	161958555	In-frame
ENST00000446997	161965051	161965173	In-frame

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Infer the effects of exon skipping event on protein functional features for SLC4A10

p-ENSG00000144290_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
ENST00000446997	5568	1118	161804449	161804595	225	370	44	92
ENST00000446997	5568	1118	161862874	161863062	672	859	193	255
ENST00000446997	5568	1118	161873916	161874005	953	1041	286	316
ENST00000446997	5568	1118	161894679	161894825	1289	1434	398	447
ENST00000446997	5568	1118	161947566	161947727	2198	2358	701	755
ENST00000446997	5568	1118	161950687	161950848	2474	2634	793	847
ENST00000446997	5568	1118	161956989	161957240	2636	2886	847	931
ENST00000446997	5568	1118	161958487	161958555	2888	2955	931	954
ENST00000446997	5568	1118	161965051	161965173	3131	3252	1012	1053

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
ENST00000446997	5568	1118	161804449	161804595	225	370	44	92
ENST00000446997	5568	1118	161862874	161863062	672	859	193	255
ENST00000446997	5568	1118	161873916	161874005	953	1041	286	316
ENST00000446997	5568	1118	161894679	161894825	1289	1434	398	447
ENST00000446997	5568	1118	161947566	161947727	2198	2358	701	755
ENST00000446997	5568	1118	161956989	161957240	2636	2886	847	931

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
ENST00000446997	5568	1118	161804449	161804595	225	370	44	92
ENST00000446997	5568	1118	161862874	161863062	672	859	193	255
ENST00000446997	5568	1118	161873916	161874005	953	1041	286	316
ENST00000446997	5568	1118	161894679	161894825	1289	1434	398	447
ENST00000446997	5568	1118	161947566	161947727	2198	2358	701	755
ENST00000446997	5568	1118	161956989	161957240	2636	2886	847	931
ENST00000446997	5568	1118	161958487	161958555	2888	2955	931	954
ENST00000446997	5568	1118	161965051	161965173	3131	3252	1012	1053

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
Q6U841	44	92	1	1118	Chain	ID=PRO_0000245240;Note=Sodium-driven chloride bicarbonate exchanger
Q6U841	44	92	89	89	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250\|UniProtKB:Q5DTL9
Q6U841	44	92	1	509	Topological domain	Note=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q6U841	193	255	1	1118	Chain	ID=PRO_0000245240;Note=Sodium-driven chloride bicarbonate exchanger
Q6U841	193	255	1	509	Topological domain	Note=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q6U841	286	316	287	316	Alternative sequence	ID=VSP_019653;Note=In isoform 2 and isoform 3. Missing;Ontology_term=ECO:0000303,ECO:0000303,ECO:0000303;evidence=ECO:0000303\|PubMed:10993873,ECO:0000303\|PubMed:14702039,ECO:0000303\|PubMed:15489334;Dbxref=PMID:10993873,PMID:14702039,PMID:15489334
Q6U841	286	316	1	1118	Chain	ID=PRO_0000245240;Note=Sodium-driven chloride bicarbonate exchanger
Q6U841	286	316	1	509	Topological domain	Note=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q6U841	398	447	370	408	Alternative sequence	ID=VSP_054471;Note=In isoform 4. FLFILLGPLGKGQQYHEIGRSIATLMTDEVFHDVAYKAK->YFMMLPIKLKIVMTWYQELMSFWIRLLFSLLENGIQAFE;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:14702039;Dbxref=PMID:14702039
Q6U841	398	447	409	1118	Alternative sequence	ID=VSP_054472;Note=In isoform 4. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:14702039;Dbxref=PMID:14702039
Q6U841	398	447	1	1118	Chain	ID=PRO_0000245240;Note=Sodium-driven chloride bicarbonate exchanger
Q6U841	398	447	1	509	Topological domain	Note=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q6U841	701	755	409	1118	Alternative sequence	ID=VSP_054472;Note=In isoform 4. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:14702039;Dbxref=PMID:14702039
Q6U841	701	755	1	1118	Chain	ID=PRO_0000245240;Note=Sodium-driven chloride bicarbonate exchanger
Q6U841	701	755	648	720	Topological domain	Note=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q6U841	701	755	742	762	Topological domain	Note=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q6U841	701	755	721	741	Transmembrane	Note=Helical;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q6U841	793	847	409	1118	Alternative sequence	ID=VSP_054472;Note=In isoform 4. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:14702039;Dbxref=PMID:14702039
Q6U841	793	847	1	1118	Chain	ID=PRO_0000245240;Note=Sodium-driven chloride bicarbonate exchanger
Q6U841	793	847	784	809	Topological domain	Note=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q6U841	793	847	831	855	Topological domain	Note=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q6U841	793	847	810	830	Transmembrane	Note=Helical;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q6U841	847	931	409	1118	Alternative sequence	ID=VSP_054472;Note=In isoform 4. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:14702039;Dbxref=PMID:14702039
Q6U841	847	931	1	1118	Chain	ID=PRO_0000245240;Note=Sodium-driven chloride bicarbonate exchanger
Q6U841	847	931	831	855	Topological domain	Note=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q6U841	847	931	877	912	Topological domain	Note=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q6U841	847	931	856	876	Transmembrane	Note=Helical;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q6U841	847	931	913	933	Transmembrane	Note=Helical;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q6U841	931	954	409	1118	Alternative sequence	ID=VSP_054472;Note=In isoform 4. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:14702039;Dbxref=PMID:14702039
Q6U841	931	954	1	1118	Chain	ID=PRO_0000245240;Note=Sodium-driven chloride bicarbonate exchanger
Q6U841	931	954	934	935	Topological domain	Note=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q6U841	931	954	913	933	Transmembrane	Note=Helical;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q6U841	931	954	936	956	Transmembrane	Note=Helical;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q6U841	1012	1053	409	1118	Alternative sequence	ID=VSP_054472;Note=In isoform 4. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:14702039;Dbxref=PMID:14702039
Q6U841	1012	1053	1	1118	Chain	ID=PRO_0000245240;Note=Sodium-driven chloride bicarbonate exchanger
Q6U841	1012	1053	1015	1015	Sequence conflict	Note=A->S;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q6U841	1012	1053	1033	1033	Sequence conflict	Note=S->C;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q6U841	1012	1053	1048	1048	Sequence conflict	Note=E->G;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q6U841	1012	1053	1049	1049	Sequence conflict	Note=D->Y;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q6U841	1012	1053	1020	1118	Topological domain	Note=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q6U841	1012	1053	999	1019	Transmembrane	Note=Helical;Ontology_term=ECO:0000255;evidence=ECO:0000255

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
Q6U841	44	92	1	1118	Chain	ID=PRO_0000245240;Note=Sodium-driven chloride bicarbonate exchanger
Q6U841	44	92	89	89	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250\|UniProtKB:Q5DTL9
Q6U841	44	92	1	509	Topological domain	Note=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q6U841	193	255	1	1118	Chain	ID=PRO_0000245240;Note=Sodium-driven chloride bicarbonate exchanger
Q6U841	193	255	1	509	Topological domain	Note=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q6U841	286	316	287	316	Alternative sequence	ID=VSP_019653;Note=In isoform 2 and isoform 3. Missing;Ontology_term=ECO:0000303,ECO:0000303,ECO:0000303;evidence=ECO:0000303\|PubMed:10993873,ECO:0000303\|PubMed:14702039,ECO:0000303\|PubMed:15489334;Dbxref=PMID:10993873,PMID:14702039,PMID:15489334
Q6U841	286	316	1	1118	Chain	ID=PRO_0000245240;Note=Sodium-driven chloride bicarbonate exchanger
Q6U841	286	316	1	509	Topological domain	Note=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q6U841	398	447	370	408	Alternative sequence	ID=VSP_054471;Note=In isoform 4. FLFILLGPLGKGQQYHEIGRSIATLMTDEVFHDVAYKAK->YFMMLPIKLKIVMTWYQELMSFWIRLLFSLLENGIQAFE;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:14702039;Dbxref=PMID:14702039
Q6U841	398	447	409	1118	Alternative sequence	ID=VSP_054472;Note=In isoform 4. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:14702039;Dbxref=PMID:14702039
Q6U841	398	447	1	1118	Chain	ID=PRO_0000245240;Note=Sodium-driven chloride bicarbonate exchanger
Q6U841	398	447	1	509	Topological domain	Note=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q6U841	701	755	409	1118	Alternative sequence	ID=VSP_054472;Note=In isoform 4. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:14702039;Dbxref=PMID:14702039
Q6U841	701	755	1	1118	Chain	ID=PRO_0000245240;Note=Sodium-driven chloride bicarbonate exchanger
Q6U841	701	755	648	720	Topological domain	Note=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q6U841	701	755	742	762	Topological domain	Note=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q6U841	701	755	721	741	Transmembrane	Note=Helical;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q6U841	847	931	409	1118	Alternative sequence	ID=VSP_054472;Note=In isoform 4. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:14702039;Dbxref=PMID:14702039
Q6U841	847	931	1	1118	Chain	ID=PRO_0000245240;Note=Sodium-driven chloride bicarbonate exchanger
Q6U841	847	931	831	855	Topological domain	Note=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q6U841	847	931	877	912	Topological domain	Note=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q6U841	847	931	856	876	Transmembrane	Note=Helical;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q6U841	847	931	913	933	Transmembrane	Note=Helical;Ontology_term=ECO:0000255;evidence=ECO:0000255

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
Q6U841	44	92	1	1118	Chain	ID=PRO_0000245240;Note=Sodium-driven chloride bicarbonate exchanger
Q6U841	44	92	89	89	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250\|UniProtKB:Q5DTL9
Q6U841	44	92	1	509	Topological domain	Note=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q6U841	193	255	1	1118	Chain	ID=PRO_0000245240;Note=Sodium-driven chloride bicarbonate exchanger
Q6U841	193	255	1	509	Topological domain	Note=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q6U841	286	316	287	316	Alternative sequence	ID=VSP_019653;Note=In isoform 2 and isoform 3. Missing;Ontology_term=ECO:0000303,ECO:0000303,ECO:0000303;evidence=ECO:0000303\|PubMed:10993873,ECO:0000303\|PubMed:14702039,ECO:0000303\|PubMed:15489334;Dbxref=PMID:10993873,PMID:14702039,PMID:15489334
Q6U841	286	316	1	1118	Chain	ID=PRO_0000245240;Note=Sodium-driven chloride bicarbonate exchanger
Q6U841	286	316	1	509	Topological domain	Note=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q6U841	398	447	370	408	Alternative sequence	ID=VSP_054471;Note=In isoform 4. FLFILLGPLGKGQQYHEIGRSIATLMTDEVFHDVAYKAK->YFMMLPIKLKIVMTWYQELMSFWIRLLFSLLENGIQAFE;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:14702039;Dbxref=PMID:14702039
Q6U841	398	447	409	1118	Alternative sequence	ID=VSP_054472;Note=In isoform 4. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:14702039;Dbxref=PMID:14702039
Q6U841	398	447	1	1118	Chain	ID=PRO_0000245240;Note=Sodium-driven chloride bicarbonate exchanger
Q6U841	398	447	1	509	Topological domain	Note=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q6U841	701	755	409	1118	Alternative sequence	ID=VSP_054472;Note=In isoform 4. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:14702039;Dbxref=PMID:14702039
Q6U841	701	755	1	1118	Chain	ID=PRO_0000245240;Note=Sodium-driven chloride bicarbonate exchanger
Q6U841	701	755	648	720	Topological domain	Note=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q6U841	701	755	742	762	Topological domain	Note=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q6U841	701	755	721	741	Transmembrane	Note=Helical;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q6U841	847	931	409	1118	Alternative sequence	ID=VSP_054472;Note=In isoform 4. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:14702039;Dbxref=PMID:14702039
Q6U841	847	931	1	1118	Chain	ID=PRO_0000245240;Note=Sodium-driven chloride bicarbonate exchanger
Q6U841	847	931	831	855	Topological domain	Note=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q6U841	847	931	877	912	Topological domain	Note=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q6U841	847	931	856	876	Transmembrane	Note=Helical;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q6U841	847	931	913	933	Transmembrane	Note=Helical;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q6U841	931	954	409	1118	Alternative sequence	ID=VSP_054472;Note=In isoform 4. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:14702039;Dbxref=PMID:14702039
Q6U841	931	954	1	1118	Chain	ID=PRO_0000245240;Note=Sodium-driven chloride bicarbonate exchanger
Q6U841	931	954	934	935	Topological domain	Note=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q6U841	931	954	913	933	Transmembrane	Note=Helical;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q6U841	931	954	936	956	Transmembrane	Note=Helical;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q6U841	1012	1053	409	1118	Alternative sequence	ID=VSP_054472;Note=In isoform 4. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:14702039;Dbxref=PMID:14702039
Q6U841	1012	1053	1	1118	Chain	ID=PRO_0000245240;Note=Sodium-driven chloride bicarbonate exchanger
Q6U841	1012	1053	1015	1015	Sequence conflict	Note=A->S;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q6U841	1012	1053	1033	1033	Sequence conflict	Note=S->C;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q6U841	1012	1053	1048	1048	Sequence conflict	Note=E->G;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q6U841	1012	1053	1049	1049	Sequence conflict	Note=D->Y;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q6U841	1012	1053	1020	1118	Topological domain	Note=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q6U841	1012	1053	999	1019	Transmembrane	Note=Helical;Ontology_term=ECO:0000255;evidence=ECO:0000255

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3'-UTR located exon skipping events that lost miRNA binding sites in SLC4A10

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 SLC4A10

- 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 SLC4A10

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

CDR

MSBB

IFG

exon_skip_242474

-4.430354e-01

1.821942e-02

chr2

161904004

161904178

161904776

161904909

161905642

161905887

CDR

MSBB

IFG

exon_skip_49329

3.894395e-01

4.051689e-02

chr2

161770973

161771054

161804449

161804595

161839789

161839876

CDR

MSBB

IFG

exon_skip_285768

3.843055e-01

4.347351e-02

chr2

161879131

161879288

161882357

161882444

161894679

161894825

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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for SLC4A10

sQTL information located at the skipped exons.

Tissue type	Exon skip ID	SNP id	Location	P-value	FDR
TC	exon_skip_127252	rs2909450	chr2:162011281	1.685194e-04	2.464708e-02

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Correlation with RNA binding proteins (RBPs) for SLC4A10

Correlated RBP and related information.

Tissue type	RBP name	Exon skip ID	Correlation coeifficient	P-value
IFG	KHDRBS2	exon_skip_52407	4.736070e-01	3.491377e-02
IFG	PTBP3	exon_skip_52407	6.840152e-01	8.814486e-04
IFG	RBM25	exon_skip_279123	5.430388e-01	2.825957e-03
IFG	RBM6	exon_skip_279123	4.647132e-01	1.272008e-02
IFG	SRSF11	exon_skip_279123	6.646641e-01	1.143634e-04
IFG	KHDRBS2	exon_skip_279123	5.016697e-01	6.530606e-03
IFG	HNRNPA2B1	exon_skip_279123	4.569910e-01	1.449397e-02
IFG	RBM23	exon_skip_279123	4.591974e-01	1.396740e-02
IFG	SRSF9	exon_skip_279123	5.103590e-01	5.523562e-03
IFG	NOVA1	exon_skip_279123	5.824192e-01	1.146657e-03

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RelatedDrugs for SLC4A10

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 SLC4A10

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 SLC4A10

Gene structures and expression levels for SLC4A10

Exon skipping events with PSIs in ROSMAP, MSBB, and Mayo for SLC4A10

Open reading frame (ORF) annotation in the exon skipping event for SLC4A10

Infer the effects of exon skipping event on protein functional features for SLC4A10

3'-UTR located exon skipping events that lost miRNA binding sites in SLC4A10

SNVs in the skipped exons for SLC4A10

AD stage-associated exon skippint events for SLC4A10

Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for SLC4A10

Correlation with RNA binding proteins (RBPs) for SLC4A10

RelatedDrugs for SLC4A10

RelatedDiseases for SLC4A10