ExonSkipDB: functional annotation of exon skipping event in human

Gene summary for SLC4A2

Gene summary

Gene information	Gene symbol	SLC4A2
	Gene ID	6522
	Gene name	solute carrier family 4 member 2
	Synonyms	AE2\|BND3L\|EPB3L1\|HKB3\|NBND3
	Cytomap	7q36.1
	Type of gene	protein-coding
	Description	anion exchange protein 2anion exchanger 2 type aanion exchanger 2 type b1anion exchanger 2 type b2erythrocyte membrane protein band 3-like 1non-erythroid band 3-like proteinsolute carrier family 4 (anion exchanger), member 2
	Modification date	20180523
	UniProtAcc	P04920
	Context	PubMed: SLC4A2 [Title/Abstract] AND exon [Title/Abstract] AND skip [Title/Abstract] - Title (PMID)

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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Exon skipping events across known transcript of Ensembl for SLC4A2 from UCSC genome browser

Skipped 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.

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Gene isoform structures and expression levels for SLC4A2

Expression levels of gene isoforms across TCGA.

Expression levels of gene isoforms across GTEx.

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Exon skipping events with PSIs in TCGA for SLC4A2

Information of exkip skipping event in TCGA.

Exon skip ID	chr	Exons involved in exon skipping	Skipped exon	ENSG	ENSTs
exon_skip_472451	7	150761934:150762053:150763603:150763848:150763937:150764080	150763603:150763848	ENSG00000164889.8	ENST00000413384.2,ENST00000461735.1,ENST00000485713.1,ENST00000310317.5,ENST00000392826.2
exon_skip_472453	7	150768158:150768384:150768476:150768692:150768775:150768924	150768476:150768692	ENSG00000164889.8	ENST00000413384.2,ENST00000461735.1,ENST00000485713.1,ENST00000310317.5,ENST00000392826.2
exon_skip_472457	7	150768815:150768924:150769028:150769223:150771125:150771204	150769028:150769223	ENSG00000164889.8	ENST00000413384.2,ENST00000461735.1,ENST00000485713.1,ENST00000310317.5,ENST00000392826.2
exon_skip_472466	7	150769090:150769223:150771125:150771380:150771485:150771575	150771125:150771380	ENSG00000164889.8	ENST00000413384.2,ENST00000461735.1,ENST00000485713.1,ENST00000310317.5,ENST00000392826.2
exon_skip_472473	7	150771125:150771380:150771485:150771575:150771761:150771928	150771485:150771575	ENSG00000164889.8	ENST00000413384.2,ENST00000461735.1,ENST00000485713.1,ENST00000310317.5,ENST00000392826.2
exon_skip_472475	7	150772341:150772595:150772692:150772862:150773099:150773273	150772692:150772862	ENSG00000164889.8	ENST00000413384.2,ENST00000461735.1,ENST00000485713.1,ENST00000310317.5,ENST00000392826.2
exon_skip_472480	7	150772692:150772862:150773099:150773273:150773373:150773609	150773099:150773273	ENSG00000164889.8	ENST00000413384.2,ENST00000461735.1,ENST00000485713.1,ENST00000310317.5,ENST00000392826.2

PSI values of skipped exons in TCGA.

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Exon skipping events with PSIs in GTEx for SLC4A2

Information of exkip skipping event in GTEx

Exon skip ID	chr	Exons involved in exon skipping	Skipped exon	ENSG	ENSTs
exon_skip_472451	7	150761934:150762053:150763603:150763848:150763937:150764080	150763603:150763848	ENSG00000164889.8	ENST00000485713.1,ENST00000413384.2,ENST00000310317.5,ENST00000392826.2,ENST00000461735.1
exon_skip_472453	7	150768158:150768384:150768476:150768692:150768775:150768924	150768476:150768692	ENSG00000164889.8	ENST00000485713.1,ENST00000413384.2,ENST00000310317.5,ENST00000392826.2,ENST00000461735.1
exon_skip_472457	7	150768815:150768924:150769028:150769223:150771125:150771204	150769028:150769223	ENSG00000164889.8	ENST00000485713.1,ENST00000413384.2,ENST00000310317.5,ENST00000392826.2,ENST00000461735.1
exon_skip_472466	7	150769090:150769223:150771125:150771380:150771485:150771575	150771125:150771380	ENSG00000164889.8	ENST00000485713.1,ENST00000413384.2,ENST00000310317.5,ENST00000392826.2,ENST00000461735.1
exon_skip_472473	7	150771125:150771380:150771485:150771575:150771761:150771928	150771485:150771575	ENSG00000164889.8	ENST00000485713.1,ENST00000413384.2,ENST00000310317.5,ENST00000392826.2,ENST00000461735.1
exon_skip_472475	7	150772341:150772595:150772692:150772862:150773099:150773273	150772692:150772862	ENSG00000164889.8	ENST00000485713.1,ENST00000413384.2,ENST00000310317.5,ENST00000392826.2,ENST00000461735.1
exon_skip_472480	7	150772692:150772862:150773099:150773273:150773373:150773609	150773099:150773273	ENSG00000164889.8	ENST00000485713.1,ENST00000413384.2,ENST00000310317.5,ENST00000392826.2,ENST00000461735.1

PSI values of skipped exons in GTEx.

* Skipped exon sequences.

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Open reading frame (ORF) annotation in the exon skipping event for SLC4A2

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

ENST	Start of skipped exon	End of skipped exon	ORF
ENST00000413384	150763603	150763848	Frame-shift
ENST00000485713	150763603	150763848	Frame-shift
ENST00000413384	150772692	150772862	Frame-shift
ENST00000485713	150772692	150772862	Frame-shift
ENST00000413384	150768476	150768692	In-frame
ENST00000485713	150768476	150768692	In-frame
ENST00000413384	150769028	150769223	In-frame
ENST00000485713	150769028	150769223	In-frame
ENST00000413384	150771125	150771380	In-frame
ENST00000485713	150771125	150771380	In-frame
ENST00000413384	150771485	150771575	In-frame
ENST00000485713	150771485	150771575	In-frame
ENST00000413384	150773099	150773273	In-frame
ENST00000485713	150773099	150773273	In-frame

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

ENST	Start of skipped exon	End of skipped exon	ORF
ENST00000413384	150763603	150763848	Frame-shift
ENST00000485713	150763603	150763848	Frame-shift
ENST00000413384	150772692	150772862	Frame-shift
ENST00000485713	150772692	150772862	Frame-shift
ENST00000413384	150768476	150768692	In-frame
ENST00000485713	150768476	150768692	In-frame
ENST00000413384	150769028	150769223	In-frame
ENST00000485713	150769028	150769223	In-frame
ENST00000413384	150771125	150771380	In-frame
ENST00000485713	150771125	150771380	In-frame
ENST00000413384	150771485	150771575	In-frame
ENST00000485713	150771485	150771575	In-frame
ENST00000413384	150773099	150773273	In-frame
ENST00000485713	150773099	150773273	In-frame

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Infer the effects of exon skipping event on protein functional features for SLC4A2

Exon skipping at the protein sequence level and followed lost functional features.
* Click on the image to enlarge it in a new window.

Loci of skipped exons in TCGA 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
ENST00000413384	4159	1241	150768476	150768692	2232	2447	658	730
ENST00000485713	4942	1241	150768476	150768692	3016	3231	658	730
ENST00000413384	4159	1241	150769028	150769223	2597	2791	780	845
ENST00000485713	4942	1241	150769028	150769223	3381	3575	780	845
ENST00000413384	4159	1241	150771125	150771380	2792	3046	845	930
ENST00000485713	4942	1241	150771125	150771380	3576	3830	845	930
ENST00000413384	4159	1241	150771485	150771575	3047	3136	930	960
ENST00000485713	4942	1241	150771485	150771575	3831	3920	930	960
ENST00000413384	4159	1241	150773099	150773273	3728	3901	1157	1215
ENST00000485713	4942	1241	150773099	150773273	4512	4685	1157	1215

Loci of skipped exons in GTEx 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
ENST00000413384	4159	1241	150768476	150768692	2232	2447	658	730
ENST00000485713	4942	1241	150768476	150768692	3016	3231	658	730
ENST00000413384	4159	1241	150769028	150769223	2597	2791	780	845
ENST00000485713	4942	1241	150769028	150769223	3381	3575	780	845
ENST00000413384	4159	1241	150771125	150771380	2792	3046	845	930
ENST00000485713	4942	1241	150771125	150771380	3576	3830	845	930
ENST00000413384	4159	1241	150771485	150771575	3047	3136	930	960
ENST00000485713	4942	1241	150771485	150771575	3831	3920	930	960
ENST00000413384	4159	1241	150773099	150773273	3728	3901	1157	1215
ENST00000485713	4942	1241	150773099	150773273	4512	4685	1157	1215

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 feature	Description of feature
P04920	658	730	1	1241	Chain	ID=PRO_0000079215;Note=Anion exchange protein 2
P04920	658	730	1	1241	Chain	ID=PRO_0000079215;Note=Anion exchange protein 2
P04920	658	730	708	1241	Region	Note=Membrane (anion exchange)
P04920	658	730	708	1241	Region	Note=Membrane (anion exchange)
P04920	658	730	666	681	Sequence conflict	Note=AAGAAEDDPLRRTGRP->RQGQLKMIPSADGAA;Ontology_term=ECO:0000305;evidence=ECO:0000305
P04920	658	730	666	681	Sequence conflict	Note=AAGAAEDDPLRRTGRP->RQGQLKMIPSADGAA;Ontology_term=ECO:0000305;evidence=ECO:0000305
P04920	658	730	666	681	Sequence conflict	Note=AAGAAEDDPLRRTGRP->RQGQLKMIPSADGAA;Ontology_term=ECO:0000305;evidence=ECO:0000305
P04920	658	730	666	681	Sequence conflict	Note=AAGAAEDDPLRRTGRP->RQGQLKMIPSADGAA;Ontology_term=ECO:0000305;evidence=ECO:0000305
P04920	658	730	1	707	Topological domain	Note=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255
P04920	658	730	1	707	Topological domain	Note=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255
P04920	658	730	708	731	Transmembrane	Note=Helical;Ontology_term=ECO:0000255;evidence=ECO:0000255
P04920	658	730	708	731	Transmembrane	Note=Helical;Ontology_term=ECO:0000255;evidence=ECO:0000255
P04920	780	845	1	1241	Chain	ID=PRO_0000079215;Note=Anion exchange protein 2
P04920	780	845	1	1241	Chain	ID=PRO_0000079215;Note=Anion exchange protein 2
P04920	780	845	708	1241	Region	Note=Membrane (anion exchange)
P04920	780	845	708	1241	Region	Note=Membrane (anion exchange)
P04920	780	845	824	824	Sequence conflict	Note=Q->R;Ontology_term=ECO:0000305;evidence=ECO:0000305
P04920	780	845	824	824	Sequence conflict	Note=Q->R;Ontology_term=ECO:0000305;evidence=ECO:0000305
P04920	780	845	824	824	Sequence conflict	Note=Q->R;Ontology_term=ECO:0000305;evidence=ECO:0000305
P04920	780	845	824	824	Sequence conflict	Note=Q->R;Ontology_term=ECO:0000305;evidence=ECO:0000305
P04920	780	845	784	816	Transmembrane	Note=Helical;Ontology_term=ECO:0000255;evidence=ECO:0000255
P04920	780	845	784	816	Transmembrane	Note=Helical;Ontology_term=ECO:0000255;evidence=ECO:0000255
P04920	780	845	826	847	Transmembrane	Note=Helical;Ontology_term=ECO:0000255;evidence=ECO:0000255
P04920	780	845	826	847	Transmembrane	Note=Helical;Ontology_term=ECO:0000255;evidence=ECO:0000255
P04920	845	930	1	1241	Chain	ID=PRO_0000079215;Note=Anion exchange protein 2
P04920	845	930	1	1241	Chain	ID=PRO_0000079215;Note=Anion exchange protein 2
P04920	845	930	859	859	Glycosylation	Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255
P04920	845	930	859	859	Glycosylation	Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255
P04920	845	930	868	868	Glycosylation	Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255
P04920	845	930	868	868	Glycosylation	Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255
P04920	845	930	882	882	Glycosylation	Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255
P04920	845	930	882	882	Glycosylation	Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255
P04920	845	930	708	1241	Region	Note=Membrane (anion exchange)
P04920	845	930	708	1241	Region	Note=Membrane (anion exchange)
P04920	845	930	902	902	Sequence conflict	Note=L->P;Ontology_term=ECO:0000305;evidence=ECO:0000305
P04920	845	930	902	902	Sequence conflict	Note=L->P;Ontology_term=ECO:0000305;evidence=ECO:0000305
P04920	845	930	902	902	Sequence conflict	Note=L->P;Ontology_term=ECO:0000305;evidence=ECO:0000305
P04920	845	930	902	902	Sequence conflict	Note=L->P;Ontology_term=ECO:0000305;evidence=ECO:0000305
P04920	845	930	848	900	Topological domain	Note=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255
P04920	845	930	848	900	Topological domain	Note=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255
P04920	845	930	919	933	Topological domain	Note=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255
P04920	845	930	919	933	Topological domain	Note=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255
P04920	845	930	826	847	Transmembrane	Note=Helical;Ontology_term=ECO:0000255;evidence=ECO:0000255
P04920	845	930	826	847	Transmembrane	Note=Helical;Ontology_term=ECO:0000255;evidence=ECO:0000255
P04920	845	930	901	918	Transmembrane	Note=Helical;Ontology_term=ECO:0000255;evidence=ECO:0000255
P04920	845	930	901	918	Transmembrane	Note=Helical;Ontology_term=ECO:0000255;evidence=ECO:0000255
P04920	930	960	1	1241	Chain	ID=PRO_0000079215;Note=Anion exchange protein 2
P04920	930	960	1	1241	Chain	ID=PRO_0000079215;Note=Anion exchange protein 2
P04920	930	960	708	1241	Region	Note=Membrane (anion exchange)
P04920	930	960	708	1241	Region	Note=Membrane (anion exchange)
P04920	930	960	919	933	Topological domain	Note=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255
P04920	930	960	919	933	Topological domain	Note=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255
P04920	930	960	934	954	Transmembrane	Note=Helical;Ontology_term=ECO:0000255;evidence=ECO:0000255
P04920	930	960	934	954	Transmembrane	Note=Helical;Ontology_term=ECO:0000255;evidence=ECO:0000255
P04920	1157	1215	1	1241	Chain	ID=PRO_0000079215;Note=Anion exchange protein 2
P04920	1157	1215	1	1241	Chain	ID=PRO_0000079215;Note=Anion exchange protein 2
P04920	1157	1215	1173	1173	Lipidation	Note=S-palmitoyl cysteine;Ontology_term=ECO:0000250;evidence=ECO:0000250
P04920	1157	1215	1173	1173	Lipidation	Note=S-palmitoyl cysteine;Ontology_term=ECO:0000250;evidence=ECO:0000250
P04920	1157	1215	1204	1204	Natural variant	ID=VAR_025171;Note=L->F;Ontology_term=ECO:0000269;evidence=ECO:0000269\|Ref.2;Dbxref=dbSNP:rs34918764
P04920	1157	1215	1204	1204	Natural variant	ID=VAR_025171;Note=L->F;Ontology_term=ECO:0000269;evidence=ECO:0000269\|Ref.2;Dbxref=dbSNP:rs34918764
P04920	1157	1215	708	1241	Region	Note=Membrane (anion exchange)
P04920	1157	1215	708	1241	Region	Note=Membrane (anion exchange)
P04920	1157	1215	1163	1199	Transmembrane	Note=Helical;Ontology_term=ECO:0000255;evidence=ECO:0000255
P04920	1157	1215	1163	1199	Transmembrane	Note=Helical;Ontology_term=ECO:0000255;evidence=ECO:0000255

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 feature	Description of feature
P04920	658	730	1	1241	Chain	ID=PRO_0000079215;Note=Anion exchange protein 2
P04920	658	730	1	1241	Chain	ID=PRO_0000079215;Note=Anion exchange protein 2
P04920	658	730	708	1241	Region	Note=Membrane (anion exchange)
P04920	658	730	708	1241	Region	Note=Membrane (anion exchange)
P04920	658	730	666	681	Sequence conflict	Note=AAGAAEDDPLRRTGRP->RQGQLKMIPSADGAA;Ontology_term=ECO:0000305;evidence=ECO:0000305
P04920	658	730	666	681	Sequence conflict	Note=AAGAAEDDPLRRTGRP->RQGQLKMIPSADGAA;Ontology_term=ECO:0000305;evidence=ECO:0000305
P04920	658	730	666	681	Sequence conflict	Note=AAGAAEDDPLRRTGRP->RQGQLKMIPSADGAA;Ontology_term=ECO:0000305;evidence=ECO:0000305
P04920	658	730	666	681	Sequence conflict	Note=AAGAAEDDPLRRTGRP->RQGQLKMIPSADGAA;Ontology_term=ECO:0000305;evidence=ECO:0000305
P04920	658	730	1	707	Topological domain	Note=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255
P04920	658	730	1	707	Topological domain	Note=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255
P04920	658	730	708	731	Transmembrane	Note=Helical;Ontology_term=ECO:0000255;evidence=ECO:0000255
P04920	658	730	708	731	Transmembrane	Note=Helical;Ontology_term=ECO:0000255;evidence=ECO:0000255
P04920	780	845	1	1241	Chain	ID=PRO_0000079215;Note=Anion exchange protein 2
P04920	780	845	1	1241	Chain	ID=PRO_0000079215;Note=Anion exchange protein 2
P04920	780	845	708	1241	Region	Note=Membrane (anion exchange)
P04920	780	845	708	1241	Region	Note=Membrane (anion exchange)
P04920	780	845	824	824	Sequence conflict	Note=Q->R;Ontology_term=ECO:0000305;evidence=ECO:0000305
P04920	780	845	824	824	Sequence conflict	Note=Q->R;Ontology_term=ECO:0000305;evidence=ECO:0000305
P04920	780	845	824	824	Sequence conflict	Note=Q->R;Ontology_term=ECO:0000305;evidence=ECO:0000305
P04920	780	845	824	824	Sequence conflict	Note=Q->R;Ontology_term=ECO:0000305;evidence=ECO:0000305
P04920	780	845	784	816	Transmembrane	Note=Helical;Ontology_term=ECO:0000255;evidence=ECO:0000255
P04920	780	845	784	816	Transmembrane	Note=Helical;Ontology_term=ECO:0000255;evidence=ECO:0000255
P04920	780	845	826	847	Transmembrane	Note=Helical;Ontology_term=ECO:0000255;evidence=ECO:0000255
P04920	780	845	826	847	Transmembrane	Note=Helical;Ontology_term=ECO:0000255;evidence=ECO:0000255
P04920	845	930	1	1241	Chain	ID=PRO_0000079215;Note=Anion exchange protein 2
P04920	845	930	1	1241	Chain	ID=PRO_0000079215;Note=Anion exchange protein 2
P04920	845	930	859	859	Glycosylation	Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255
P04920	845	930	859	859	Glycosylation	Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255
P04920	845	930	868	868	Glycosylation	Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255
P04920	845	930	868	868	Glycosylation	Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255
P04920	845	930	882	882	Glycosylation	Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255
P04920	845	930	882	882	Glycosylation	Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255
P04920	845	930	708	1241	Region	Note=Membrane (anion exchange)
P04920	845	930	708	1241	Region	Note=Membrane (anion exchange)
P04920	845	930	902	902	Sequence conflict	Note=L->P;Ontology_term=ECO:0000305;evidence=ECO:0000305
P04920	845	930	902	902	Sequence conflict	Note=L->P;Ontology_term=ECO:0000305;evidence=ECO:0000305
P04920	845	930	902	902	Sequence conflict	Note=L->P;Ontology_term=ECO:0000305;evidence=ECO:0000305
P04920	845	930	902	902	Sequence conflict	Note=L->P;Ontology_term=ECO:0000305;evidence=ECO:0000305
P04920	845	930	848	900	Topological domain	Note=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255
P04920	845	930	848	900	Topological domain	Note=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255
P04920	845	930	919	933	Topological domain	Note=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255
P04920	845	930	919	933	Topological domain	Note=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255
P04920	845	930	826	847	Transmembrane	Note=Helical;Ontology_term=ECO:0000255;evidence=ECO:0000255
P04920	845	930	826	847	Transmembrane	Note=Helical;Ontology_term=ECO:0000255;evidence=ECO:0000255
P04920	845	930	901	918	Transmembrane	Note=Helical;Ontology_term=ECO:0000255;evidence=ECO:0000255
P04920	845	930	901	918	Transmembrane	Note=Helical;Ontology_term=ECO:0000255;evidence=ECO:0000255
P04920	930	960	1	1241	Chain	ID=PRO_0000079215;Note=Anion exchange protein 2
P04920	930	960	1	1241	Chain	ID=PRO_0000079215;Note=Anion exchange protein 2
P04920	930	960	708	1241	Region	Note=Membrane (anion exchange)
P04920	930	960	708	1241	Region	Note=Membrane (anion exchange)
P04920	930	960	919	933	Topological domain	Note=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255
P04920	930	960	919	933	Topological domain	Note=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255
P04920	930	960	934	954	Transmembrane	Note=Helical;Ontology_term=ECO:0000255;evidence=ECO:0000255
P04920	930	960	934	954	Transmembrane	Note=Helical;Ontology_term=ECO:0000255;evidence=ECO:0000255
P04920	1157	1215	1	1241	Chain	ID=PRO_0000079215;Note=Anion exchange protein 2
P04920	1157	1215	1	1241	Chain	ID=PRO_0000079215;Note=Anion exchange protein 2
P04920	1157	1215	1173	1173	Lipidation	Note=S-palmitoyl cysteine;Ontology_term=ECO:0000250;evidence=ECO:0000250
P04920	1157	1215	1173	1173	Lipidation	Note=S-palmitoyl cysteine;Ontology_term=ECO:0000250;evidence=ECO:0000250
P04920	1157	1215	1204	1204	Natural variant	ID=VAR_025171;Note=L->F;Ontology_term=ECO:0000269;evidence=ECO:0000269\|Ref.2;Dbxref=dbSNP:rs34918764
P04920	1157	1215	1204	1204	Natural variant	ID=VAR_025171;Note=L->F;Ontology_term=ECO:0000269;evidence=ECO:0000269\|Ref.2;Dbxref=dbSNP:rs34918764
P04920	1157	1215	708	1241	Region	Note=Membrane (anion exchange)
P04920	1157	1215	708	1241	Region	Note=Membrane (anion exchange)
P04920	1157	1215	1163	1199	Transmembrane	Note=Helical;Ontology_term=ECO:0000255;evidence=ECO:0000255
P04920	1157	1215	1163	1199	Transmembrane	Note=Helical;Ontology_term=ECO:0000255;evidence=ECO:0000255

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SNVs in the skipped exons for SLC4A2

- Lollipop plot for presenting exon skipping associated SNVs.
* Click on the image to enlarge it in a new window.

- Differential PSIs between mutated versus non-mutated samples.

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

Cancer type	Sample	ESID	Skipped exon start	Skipped exon end	Mutation start	Mutation end	Mutation type	Reference seq	Mutation seq	AAchange
LIHC	TCGA-DD-A1EG-01	exon_skip_472453	150768477	150768692	150768601	150768601	Frame_Shift_Del	C	-	p.F700fs
LIHC	TCGA-G3-A3CJ-01	exon_skip_472466	150771126	150771380	150771140	150771140	Frame_Shift_Del	C	-	p.H850fs
KICH	TCGA-KM-8438-01	exon_skip_472475	150772693	150772862	150772848	150772851	Frame_Shift_Del	ACTT	-	p.1138_1139del
KICH	TCGA-KM-8438-01	exon_skip_472475	150772693	150772862	150772848	150772851	Frame_Shift_Del	ACTT	-	p.T1153fs
KIRC	TCGA-B0-5085-01	exon_skip_472466	150771126	150771380	150771368	150771369	Frame_Shift_Ins	-	T	p.F926fs
KIRC	TCGA-B0-5085-01	exon_skip_472466	150771126	150771380	150771368	150771369	Frame_Shift_Ins	-	T	p.S927fs
PAAD	TCGA-2J-AAB8-01	exon_skip_472475	150772693	150772862	150772809	150772810	Frame_Shift_Ins	-	A	p.H1140fs
PAAD	TCGA-2J-AAB8-01	exon_skip_472475	150772693	150772862	150772809	150772810	Frame_Shift_Ins	-	A	p.S1140fs
KIRC	TCGA-B8-5549-01	exon_skip_472453	150768477	150768692	150768602	150768602	Nonsense_Mutation	C	T	p.R701X
STAD	TCGA-HU-A4GT-01	exon_skip_472473	150771486	150771575	150771577	150771577	Splice_Site	T	C	.
STAD	TCGA-HU-A4GT-01	exon_skip_472473	150771486	150771575	150771577	150771577	Splice_Site	T	C	p.Q960_splice

- Depth of coverage in the three exons composing exon skipping event

Depth of coverage in three exons

Mutation description

- 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
OC316_OVARY	150768477	150768692	150768535	150768535	Frame_Shift_Del	G	-	p.T678fs
CCK81_LARGE_INTESTINE	150768477	150768692	150768611	150768612	Frame_Shift_Ins	-	T	p.L704fs
HMC18_BREAST	150763604	150763848	150763627	150763627	Missense_Mutation	C	T	p.A201V
CMLT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	150763604	150763848	150763717	150763717	Missense_Mutation	G	A	p.R231H
KASUMI6_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	150763604	150763848	150763717	150763717	Missense_Mutation	G	A	p.R231H
A204_SOFT_TISSUE	150763604	150763848	150763743	150763743	Missense_Mutation	C	T	p.R240C
TGBC11TKB_STOMACH	150763604	150763848	150763825	150763825	Missense_Mutation	C	T	p.T267M
DU145_PROSTATE	150763604	150763848	150763840	150763840	Missense_Mutation	T	C	p.L272P
GSU_STOMACH	150768477	150768692	150768510	150768510	Missense_Mutation	C	T	p.A670V
KMH2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	150769029	150769223	150769046	150769046	Missense_Mutation	C	G	p.H786Q
SW1271_LUNG	150769029	150769223	150769063	150769063	Missense_Mutation	G	T	p.G792V
GP2D_LARGE_INTESTINE	150769029	150769223	150769074	150769074	Missense_Mutation	A	G	p.I796V
GP5D_LARGE_INTESTINE	150769029	150769223	150769074	150769074	Missense_Mutation	A	G	p.I796V
HCC2450_LUNG	150771126	150771380	150771157	150771157	Missense_Mutation	C	T	p.S856L
NCIH1573_LUNG	150771126	150771380	150771207	150771207	Missense_Mutation	G	A	p.G873R
NCIH1573_LUNG	150771126	150771380	150771207	150771208	Missense_Mutation	GG	AC	p.G873T
NCIH1573_LUNG	150771126	150771380	150771208	150771208	Missense_Mutation	G	C	p.G873A
GP2D_LARGE_INTESTINE	150771126	150771380	150771217	150771217	Missense_Mutation	C	T	p.P876L
GP5D_LARGE_INTESTINE	150771126	150771380	150771217	150771217	Missense_Mutation	C	T	p.P876L
JURKAT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	150771126	150771380	150771274	150771274	Missense_Mutation	G	C	p.R895P
HCC366_LUNG	150771126	150771380	150771280	150771280	Missense_Mutation	A	T	p.Q897L
NALM6_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	150771126	150771380	150771316	150771316	Missense_Mutation	C	A	p.A909D
SNU719_STOMACH	150772693	150772862	150772747	150772747	Missense_Mutation	T	G	p.F1119C
SNU175_LARGE_INTESTINE	150773100	150773273	150773117	150773117	Missense_Mutation	G	A	p.M1163I
HEC108_ENDOMETRIUM	150773100	150773273	150773118	150773118	Missense_Mutation	C	A	p.H1164N
INA6_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	150773100	150773273	150773208	150773208	Missense_Mutation	A	C	p.I1194L
SNU1040_LARGE_INTESTINE	150773100	150773273	150773227	150773227	Missense_Mutation	G	A	p.R1200H
NCIH630_LARGE_INTESTINE	150769029	150769223	150769085	150769085	Nonsense_Mutation	G	A	p.W799*

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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for SLC4A2

sQTL information located at the skipped exons.

Exon skip ID

Chromosome

Three exons

Skippped exon

ENST

Cancer type

SNP id

Location

DNA change (ref/var)

P-value

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Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for SLC4A2

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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for SLC4A2

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RelatedDrugs for SLC4A2

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

Gene

UniProtAcc

DrugBank ID

Drug name

Drug activity

Drug type

Drug status

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RelatedDiseases for SLC4A2

Diseases associated with this gene.
(DisGeNet 4.0)

Gene	Disease ID	Disease name	# pubmeds	Source
SLC4A2	C0008340	Choledochal Cyst	1	CTD_human
SLC4A2	C0023892	Biliary cirrhosis	1	CTD_human
SLC4A2	C0085548	Autosomal Recessive Polycystic Kidney Disease	1	CTD_human

	Gene summary
	Gene structures and expression levels
	Exon skipping events with PSIs in TCGA
	Exon skipping events with PSIs in GTEx
	Open reading frame (ORF) annotation in the exon skipping event
	Exon skipping events in the canonical protein sequence
	SNVs in the skipped exons with depth of coverage
	Splicing Quantitative Trait Loci (sQTLs) in the skipped exons
	Splicing Quantitative Trait Methylation (sQTM) in the skipped exon
	Related drugs with this gene
	Related diseases with this gene

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