ExonSkipDB: functional annotation of exon skipping event in human

Gene summary for ABCC4

Gene summary

Gene information	Gene symbol	ABCC4
	Gene ID	10257
	Gene name	ATP binding cassette subfamily C member 4
	Synonyms	MOAT-B\|MOATB\|MRP4
	Cytomap	13q32.1
	Type of gene	protein-coding
	Description	multidrug resistance-associated protein 4MRP/cMOAT-related ABC transporterbA464I2.1 (ATP-binding cassette, sub-family C (CFTR/MRP), member 4)canalicular multispecific organic anion transporter (ABC superfamily)multi-specific organic anion transporter
	Modification date	20180523
	UniProtAcc	O15439
	Context	PubMed: ABCC4 [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
ABCC4	GO:0032310	prostaglandin secretion	25173977

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Exon skipping events across known transcript of Ensembl for ABCC4 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 ABCC4

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 ABCC4

Information of exkip skipping event in TCGA.

Exon skip ID	chr	Exons involved in exon skipping	Skipped exon	ENSG	ENSTs
exon_skip_104276	13	95672084:95673936:95686858:95686993:95695935:95696041	95686858:95686993	ENSG00000125257.9	ENST00000376887.4,ENST00000412704.1
exon_skip_104281	13	95695935:95696041:95696519:95696692:95705348:95705438	95696519:95696692	ENSG00000125257.9	ENST00000376887.4,ENST00000471041.1,ENST00000412704.1
exon_skip_104286	13	95696519:95696692:95705348:95705438:95714957:95715113	95705348:95705438	ENSG00000125257.9	ENST00000376887.4,ENST00000412704.1
exon_skip_104291	13	95705348:95705438:95714957:95715113:95723915:95724107	95714957:95715113	ENSG00000125257.9	ENST00000376887.4,ENST00000412704.1
exon_skip_104293	13	95727685:95727805:95735393:95735544:95768175:95768255	95735393:95735544	ENSG00000125257.9	ENST00000376887.4,ENST00000412704.1
exon_skip_104299	13	95735393:95735544:95768175:95768255:95813442:95813589	95768175:95768255	ENSG00000125257.9	ENST00000376887.4,ENST00000412704.1
exon_skip_104305	13	95748024:95748433:95768175:95768255:95813442:95813589	95768175:95768255	ENSG00000125257.9	ENST00000431522.1,ENST00000536256.1
exon_skip_104308	13	95813442:95813589:95815375:95815470:95815863:95815901	95815375:95815470	ENSG00000125257.9	ENST00000376887.4,ENST00000412704.1,ENST00000431522.1,ENST00000536256.1
exon_skip_104310	13	95815863:95815901:95816631:95816772:95818411:95818621	95816631:95816772	ENSG00000125257.9	ENST00000376887.4,ENST00000431522.1,ENST00000536256.1
exon_skip_104311	13	95816631:95816772:95818411:95818621:95822785:95822882	95818411:95818621	ENSG00000125257.9	ENST00000376887.4,ENST00000431522.1,ENST00000536256.1
exon_skip_104312	13	95818476:95818621:95822785:95822882:95829960:95830042	95822785:95822882	ENSG00000125257.9	ENST00000538287.1,ENST00000376887.4,ENST00000412704.1,ENST00000431522.1,ENST00000536256.1
exon_skip_104316	13	95838954:95839146:95840706:95840796:95847089:95847191	95840706:95840796	ENSG00000125257.9	ENST00000538287.1,ENST00000376887.4,ENST00000412704.1,ENST00000431522.1,ENST00000536256.1
exon_skip_104319	13	95840706:95840796:95847089:95847191:95858785:95858969	95847089:95847191	ENSG00000125257.9	ENST00000538287.1,ENST00000376887.4,ENST00000412704.1,ENST00000431522.1,ENST00000536256.1
exon_skip_104320	13	95858785:95859035:95860053:95860179:95861687:95861851	95860053:95860179	ENSG00000125257.9	ENST00000538287.1,ENST00000376887.4,ENST00000412704.1,ENST00000431522.1,ENST00000536256.1
exon_skip_104323	13	95861687:95861851:95862945:95863035:95886863:95887088	95862945:95863035	ENSG00000125257.9	ENST00000538287.1,ENST00000376887.4,ENST00000412704.1,ENST00000431522.1
exon_skip_104324	13	95862945:95863035:95886863:95887088:95899228:95899349	95886863:95887088	ENSG00000125257.9	ENST00000538287.1,ENST00000376887.4,ENST00000412704.1,ENST00000431522.1
exon_skip_104325	13	95886863:95887088:95899228:95899349:95899896:95900007	95899228:95899349	ENSG00000125257.9	ENST00000538287.1,ENST00000376887.4,ENST00000412704.1,ENST00000431522.1
exon_skip_104328	13	95899896:95900007:95918365:95918518:95921563:95921676	95918365:95918518	ENSG00000125257.9	ENST00000538287.1
exon_skip_104332	13	95918365:95918518:95921563:95921676:95953494:95953589	95921563:95921676	ENSG00000125257.9	ENST00000538287.1

PSI values of skipped exons in TCGA.

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Exon skipping events with PSIs in GTEx for ABCC4

Information of exkip skipping event in GTEx

Exon skip ID	chr	Exons involved in exon skipping	Skipped exon	ENSG	ENSTs
exon_skip_104276	13	95672084:95673936:95686858:95686993:95695935:95696041	95686858:95686993	ENSG00000125257.9	ENST00000412704.1,ENST00000376887.4
exon_skip_104281	13	95695935:95696041:95696519:95696692:95705348:95705438	95696519:95696692	ENSG00000125257.9	ENST00000412704.1,ENST00000376887.4,ENST00000471041.1
exon_skip_104286	13	95696519:95696692:95705348:95705438:95714957:95715113	95705348:95705438	ENSG00000125257.9	ENST00000412704.1,ENST00000376887.4
exon_skip_104291	13	95705348:95705438:95714957:95715113:95723915:95724107	95714957:95715113	ENSG00000125257.9	ENST00000412704.1,ENST00000376887.4
exon_skip_104293	13	95727685:95727805:95735393:95735544:95768175:95768255	95735393:95735544	ENSG00000125257.9	ENST00000412704.1,ENST00000376887.4
exon_skip_104299	13	95735393:95735544:95768175:95768255:95813442:95813589	95768175:95768255	ENSG00000125257.9	ENST00000412704.1,ENST00000376887.4
exon_skip_104305	13	95748024:95748433:95768175:95768255:95813442:95813589	95768175:95768255	ENSG00000125257.9	ENST00000536256.1,ENST00000431522.1
exon_skip_104308	13	95813442:95813589:95815375:95815470:95815863:95815901	95815375:95815470	ENSG00000125257.9	ENST00000412704.1,ENST00000376887.4,ENST00000536256.1,ENST00000431522.1
exon_skip_104310	13	95815863:95815901:95816631:95816772:95818411:95818621	95816631:95816772	ENSG00000125257.9	ENST00000376887.4,ENST00000536256.1,ENST00000431522.1
exon_skip_104312	13	95818476:95818621:95822785:95822882:95829960:95830042	95822785:95822882	ENSG00000125257.9	ENST00000412704.1,ENST00000376887.4,ENST00000536256.1,ENST00000431522.1,ENST00000538287.1
exon_skip_104316	13	95838954:95839146:95840706:95840796:95847089:95847191	95840706:95840796	ENSG00000125257.9	ENST00000412704.1,ENST00000376887.4,ENST00000536256.1,ENST00000431522.1,ENST00000538287.1
exon_skip_104319	13	95840706:95840796:95847089:95847191:95858785:95858969	95847089:95847191	ENSG00000125257.9	ENST00000412704.1,ENST00000376887.4,ENST00000536256.1,ENST00000431522.1,ENST00000538287.1
exon_skip_104320	13	95858785:95859035:95860053:95860179:95861687:95861851	95860053:95860179	ENSG00000125257.9	ENST00000412704.1,ENST00000376887.4,ENST00000536256.1,ENST00000431522.1,ENST00000538287.1
exon_skip_104323	13	95861687:95861851:95862945:95863035:95886863:95887088	95862945:95863035	ENSG00000125257.9	ENST00000412704.1,ENST00000376887.4,ENST00000431522.1,ENST00000538287.1
exon_skip_104324	13	95862945:95863035:95886863:95887088:95899228:95899349	95886863:95887088	ENSG00000125257.9	ENST00000412704.1,ENST00000376887.4,ENST00000431522.1,ENST00000538287.1
exon_skip_104325	13	95886863:95887088:95899228:95899349:95899896:95900007	95899228:95899349	ENSG00000125257.9	ENST00000412704.1,ENST00000376887.4,ENST00000431522.1,ENST00000538287.1
exon_skip_104328	13	95899896:95900007:95918365:95918518:95921563:95921676	95918365:95918518	ENSG00000125257.9	ENST00000538287.1
exon_skip_104332	13	95918365:95918518:95921563:95921676:95953494:95953589	95921563:95921676	ENSG00000125257.9	ENST00000538287.1

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 ABCC4

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
ENST00000376887	95696519	95696692	Frame-shift
ENST00000376887	95735393	95735544	Frame-shift
ENST00000376887	95768175	95768255	Frame-shift
ENST00000376887	95815375	95815470	Frame-shift
ENST00000376887	95822785	95822882	Frame-shift
ENST00000376887	95899228	95899349	Frame-shift
ENST00000376887	95686858	95686993	In-frame
ENST00000376887	95705348	95705438	In-frame
ENST00000376887	95714957	95715113	In-frame
ENST00000376887	95816631	95816772	In-frame
ENST00000376887	95818411	95818621	In-frame
ENST00000376887	95840706	95840796	In-frame
ENST00000376887	95847089	95847191	In-frame
ENST00000376887	95860053	95860179	In-frame
ENST00000376887	95862945	95863035	In-frame
ENST00000376887	95886863	95887088	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
ENST00000376887	95696519	95696692	Frame-shift
ENST00000376887	95735393	95735544	Frame-shift
ENST00000376887	95768175	95768255	Frame-shift
ENST00000376887	95815375	95815470	Frame-shift
ENST00000376887	95822785	95822882	Frame-shift
ENST00000376887	95899228	95899349	Frame-shift
ENST00000376887	95686858	95686993	In-frame
ENST00000376887	95705348	95705438	In-frame
ENST00000376887	95714957	95715113	In-frame
ENST00000376887	95816631	95816772	In-frame
ENST00000376887	95840706	95840796	In-frame
ENST00000376887	95847089	95847191	In-frame
ENST00000376887	95860053	95860179	In-frame
ENST00000376887	95862945	95863035	In-frame
ENST00000376887	95886863	95887088	In-frame

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Infer the effects of exon skipping event on protein functional features for ABCC4

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
ENST00000376887	5854	1325	95886863	95887088	422	646	102	177
ENST00000376887	5854	1325	95862945	95863035	647	736	177	207
ENST00000376887	5854	1325	95860053	95860179	901	1026	262	303
ENST00000376887	5854	1325	95847089	95847191	1277	1378	387	421
ENST00000376887	5854	1325	95840706	95840796	1379	1468	421	451
ENST00000376887	5854	1325	95818411	95818621	1940	2149	608	678
ENST00000376887	5854	1325	95816631	95816772	2150	2290	678	725
ENST00000376887	5854	1325	95714957	95715113	3326	3481	1070	1122
ENST00000376887	5854	1325	95705348	95705438	3482	3571	1122	1152
ENST00000376887	5854	1325	95686858	95686993	3851	3985	1245	1290

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
ENST00000376887	5854	1325	95886863	95887088	422	646	102	177
ENST00000376887	5854	1325	95862945	95863035	647	736	177	207
ENST00000376887	5854	1325	95860053	95860179	901	1026	262	303
ENST00000376887	5854	1325	95847089	95847191	1277	1378	387	421
ENST00000376887	5854	1325	95840706	95840796	1379	1468	421	451
ENST00000376887	5854	1325	95816631	95816772	2150	2290	678	725
ENST00000376887	5854	1325	95714957	95715113	3326	3481	1070	1122
ENST00000376887	5854	1325	95705348	95705438	3482	3571	1122	1152
ENST00000376887	5854	1325	95686858	95686993	3851	3985	1245	1290

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
O15439	102	177	103	177	Alternative sequence	ID=VSP_057413;Note=In isoform 4. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:14702039;Dbxref=PMID:14702039
O15439	102	177	1	1325	Chain	ID=PRO_0000093362;Note=Multidrug resistance-associated protein 4
O15439	102	177	92	377	Domain	Note=ABC transmembrane type-1 1;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00441
O15439	102	177	171	171	Natural variant	ID=VAR_046446;Note=C->G;Dbxref=dbSNP:rs4148460
O15439	102	177	93	113	Transmembrane	Note=Helical;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00441
O15439	102	177	136	156	Transmembrane	Note=Helical;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00441
O15439	177	207	103	177	Alternative sequence	ID=VSP_057413;Note=In isoform 4. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:14702039;Dbxref=PMID:14702039
O15439	177	207	1	1325	Chain	ID=PRO_0000093362;Note=Multidrug resistance-associated protein 4
O15439	177	207	92	377	Domain	Note=ABC transmembrane type-1 1;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00441
O15439	177	207	184	184	Natural variant	ID=VAR_020241;Note=M->T;Dbxref=dbSNP:rs45454092
O15439	177	207	187	187	Natural variant	ID=VAR_020242;Note=Transport properties comparable to wild-type. G->W;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:18300232;Dbxref=dbSNP:rs11568658,PMID:18300232
O15439	177	207	207	227	Transmembrane	Note=Helical;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00441
O15439	262	303	1	1325	Chain	ID=PRO_0000093362;Note=Multidrug resistance-associated protein 4
O15439	262	303	92	377	Domain	Note=ABC transmembrane type-1 1;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00441
O15439	262	303	293	293	Natural variant	ID=VAR_046447;Note=K->E;Dbxref=dbSNP:rs11568684
O15439	387	421	1	1325	Chain	ID=PRO_0000093362;Note=Multidrug resistance-associated protein 4
O15439	387	421	410	633	Domain	Note=ABC transporter 1;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00434
O15439	387	421	403	403	Natural variant	ID=VAR_029122;Note=P->L;Dbxref=dbSNP:rs11568705
O15439	421	451	1	1325	Chain	ID=PRO_0000093362;Note=Multidrug resistance-associated protein 4
O15439	421	451	410	633	Domain	Note=ABC transporter 1;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00434
O15439	421	451	445	452	Nucleotide binding	Note=ATP 1;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00434
O15439	421	451	440	460	Transmembrane	Note=Helical;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00441
O15439	608	678	1	1325	Chain	ID=PRO_0000093362;Note=Multidrug resistance-associated protein 4
O15439	608	678	410	633	Domain	Note=ABC transporter 1;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00434
O15439	608	678	651	651	Glycosylation	Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255
O15439	608	678	646	646	Modified residue	Note=Phosphothreonine;Ontology_term=ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244;evidence=ECO:0000244\|PubMed:18669648,ECO:0000244\|PubMed:19690332,ECO:0000244\|PubMed:20068231,ECO:0000244\|PubMed:23186163;Dbxref=PMID:18669648,PMID:19690332,PMID:20068231,P
O15439	608	678	648	648	Modified residue	Note=Phosphothreonine;Ontology_term=ECO:0000244;evidence=ECO:0000244\|PubMed:23186163;Dbxref=PMID:23186163
O15439	608	678	664	664	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244\|PubMed:23186163;Dbxref=PMID:23186163
O15439	608	678	668	668	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244\|PubMed:23186163;Dbxref=PMID:23186163
O15439	608	678	625	625	Natural variant	ID=VAR_029124;Note=I->M;Dbxref=dbSNP:rs11568699
O15439	608	678	667	667	Natural variant	ID=VAR_029125;Note=P->L;Dbxref=dbSNP:rs11568697
O15439	678	725	679	725	Alternative sequence	ID=VSP_035426;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|Ref.3
O15439	678	725	1	1325	Chain	ID=PRO_0000093362;Note=Multidrug resistance-associated protein 4
O15439	678	725	714	1005	Domain	Note=ABC transmembrane type-1 2;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00441
O15439	678	725	690	690	Glycosylation	Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255
O15439	678	725	703	703	Sequence conflict	Note=N->S;Ontology_term=ECO:0000305;evidence=ECO:0000305
O15439	678	725	710	730	Transmembrane	Note=Helical;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00441
O15439	1070	1122	860	1325	Alternative sequence	ID=VSP_043284;Note=In isoform 3 and isoform 4. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303\|PubMed:14702039,ECO:0000303\|PubMed:15489334;Dbxref=PMID:14702039,PMID:15489334
O15439	1070	1122	1	1325	Chain	ID=PRO_0000093362;Note=Multidrug resistance-associated protein 4
O15439	1070	1122	1041	1274	Domain	Note=ABC transporter 2;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00434
O15439	1070	1122	1075	1082	Nucleotide binding	Note=ATP 2;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00434
O15439	1122	1152	860	1325	Alternative sequence	ID=VSP_043284;Note=In isoform 3 and isoform 4. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303\|PubMed:14702039,ECO:0000303\|PubMed:15489334;Dbxref=PMID:14702039,PMID:15489334
O15439	1122	1152	1	1325	Chain	ID=PRO_0000093362;Note=Multidrug resistance-associated protein 4
O15439	1122	1152	1041	1274	Domain	Note=ABC transporter 2;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00434
O15439	1122	1152	1142	1142	Natural variant	ID=VAR_029126;Note=10%25 reduced expression level compared to wild-type%3B transport properties comparable to wild-type. T->M;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:18300232;Dbxref=dbSNP:rs11568644,PMID:18300232
O15439	1122	1152	1139	1139	Sequence conflict	Note=N->K;Ontology_term=ECO:0000305;evidence=ECO:0000305
O15439	1245	1290	860	1325	Alternative sequence	ID=VSP_043284;Note=In isoform 3 and isoform 4. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303\|PubMed:14702039,ECO:0000303\|PubMed:15489334;Dbxref=PMID:14702039,PMID:15489334
O15439	1245	1290	1	1325	Chain	ID=PRO_0000093362;Note=Multidrug resistance-associated protein 4
O15439	1245	1290	1041	1274	Domain	Note=ABC transporter 2;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00434

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
O15439	102	177	103	177	Alternative sequence	ID=VSP_057413;Note=In isoform 4. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:14702039;Dbxref=PMID:14702039
O15439	102	177	1	1325	Chain	ID=PRO_0000093362;Note=Multidrug resistance-associated protein 4
O15439	102	177	92	377	Domain	Note=ABC transmembrane type-1 1;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00441
O15439	102	177	171	171	Natural variant	ID=VAR_046446;Note=C->G;Dbxref=dbSNP:rs4148460
O15439	102	177	93	113	Transmembrane	Note=Helical;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00441
O15439	102	177	136	156	Transmembrane	Note=Helical;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00441
O15439	177	207	103	177	Alternative sequence	ID=VSP_057413;Note=In isoform 4. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:14702039;Dbxref=PMID:14702039
O15439	177	207	1	1325	Chain	ID=PRO_0000093362;Note=Multidrug resistance-associated protein 4
O15439	177	207	92	377	Domain	Note=ABC transmembrane type-1 1;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00441
O15439	177	207	184	184	Natural variant	ID=VAR_020241;Note=M->T;Dbxref=dbSNP:rs45454092
O15439	177	207	187	187	Natural variant	ID=VAR_020242;Note=Transport properties comparable to wild-type. G->W;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:18300232;Dbxref=dbSNP:rs11568658,PMID:18300232
O15439	177	207	207	227	Transmembrane	Note=Helical;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00441
O15439	262	303	1	1325	Chain	ID=PRO_0000093362;Note=Multidrug resistance-associated protein 4
O15439	262	303	92	377	Domain	Note=ABC transmembrane type-1 1;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00441
O15439	262	303	293	293	Natural variant	ID=VAR_046447;Note=K->E;Dbxref=dbSNP:rs11568684
O15439	387	421	1	1325	Chain	ID=PRO_0000093362;Note=Multidrug resistance-associated protein 4
O15439	387	421	410	633	Domain	Note=ABC transporter 1;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00434
O15439	387	421	403	403	Natural variant	ID=VAR_029122;Note=P->L;Dbxref=dbSNP:rs11568705
O15439	421	451	1	1325	Chain	ID=PRO_0000093362;Note=Multidrug resistance-associated protein 4
O15439	421	451	410	633	Domain	Note=ABC transporter 1;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00434
O15439	421	451	445	452	Nucleotide binding	Note=ATP 1;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00434
O15439	421	451	440	460	Transmembrane	Note=Helical;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00441
O15439	678	725	679	725	Alternative sequence	ID=VSP_035426;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|Ref.3
O15439	678	725	1	1325	Chain	ID=PRO_0000093362;Note=Multidrug resistance-associated protein 4
O15439	678	725	714	1005	Domain	Note=ABC transmembrane type-1 2;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00441
O15439	678	725	690	690	Glycosylation	Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255
O15439	678	725	703	703	Sequence conflict	Note=N->S;Ontology_term=ECO:0000305;evidence=ECO:0000305
O15439	678	725	710	730	Transmembrane	Note=Helical;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00441
O15439	1070	1122	860	1325	Alternative sequence	ID=VSP_043284;Note=In isoform 3 and isoform 4. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303\|PubMed:14702039,ECO:0000303\|PubMed:15489334;Dbxref=PMID:14702039,PMID:15489334
O15439	1070	1122	1	1325	Chain	ID=PRO_0000093362;Note=Multidrug resistance-associated protein 4
O15439	1070	1122	1041	1274	Domain	Note=ABC transporter 2;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00434
O15439	1070	1122	1075	1082	Nucleotide binding	Note=ATP 2;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00434
O15439	1122	1152	860	1325	Alternative sequence	ID=VSP_043284;Note=In isoform 3 and isoform 4. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303\|PubMed:14702039,ECO:0000303\|PubMed:15489334;Dbxref=PMID:14702039,PMID:15489334
O15439	1122	1152	1	1325	Chain	ID=PRO_0000093362;Note=Multidrug resistance-associated protein 4
O15439	1122	1152	1041	1274	Domain	Note=ABC transporter 2;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00434
O15439	1122	1152	1142	1142	Natural variant	ID=VAR_029126;Note=10%25 reduced expression level compared to wild-type%3B transport properties comparable to wild-type. T->M;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:18300232;Dbxref=dbSNP:rs11568644,PMID:18300232
O15439	1122	1152	1139	1139	Sequence conflict	Note=N->K;Ontology_term=ECO:0000305;evidence=ECO:0000305
O15439	1245	1290	860	1325	Alternative sequence	ID=VSP_043284;Note=In isoform 3 and isoform 4. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303\|PubMed:14702039,ECO:0000303\|PubMed:15489334;Dbxref=PMID:14702039,PMID:15489334
O15439	1245	1290	1	1325	Chain	ID=PRO_0000093362;Note=Multidrug resistance-associated protein 4
O15439	1245	1290	1041	1274	Domain	Note=ABC transporter 2;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00434

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SNVs in the skipped exons for ABCC4

- 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-A39Y-01	exon_skip_104281	95696520	95696692	95696565	95696565	Frame_Shift_Del	T	-	p.N1195fs
LIHC	TCGA-G3-A3CJ-01	exon_skip_104281	95696520	95696692	95696618	95696618	Frame_Shift_Del	A	-	p.F1177fs
LIHC	TCGA-DD-A39Y-01	exon_skip_104286	95705349	95705438	95705428	95705428	Frame_Shift_Del	A	-	p.L1126fs
LIHC	TCGA-DD-A39Y-01	exon_skip_104291	95714958	95715113	95715080	95715080	Frame_Shift_Del	T	-	p.S1083fs
COAD	TCGA-AZ-4615-01	exon_skip_104293	95735394	95735544	95735432	95735432	Frame_Shift_Del	A	-	p.L883fs
COAD	TCGA-CM-4743-01	exon_skip_104293	95735394	95735544	95735432	95735432	Frame_Shift_Del	A	-	p.L883fs
STAD	TCGA-BR-6852-01	exon_skip_104293	95735394	95735544	95735432	95735432	Frame_Shift_Del	A	-	p.L883fs
STAD	TCGA-BR-8368-01	exon_skip_104293	95735394	95735544	95735432	95735432	Frame_Shift_Del	A	-	p.L883fs
STAD	TCGA-CG-4305-01	exon_skip_104293	95735394	95735544	95735432	95735432	Frame_Shift_Del	A	-	p.L883fs
STAD	TCGA-CG-5723-01	exon_skip_104293	95735394	95735544	95735432	95735432	Frame_Shift_Del	A	-	p.L883fs
STAD	TCGA-CG-5728-01	exon_skip_104293	95735394	95735544	95735432	95735432	Frame_Shift_Del	A	-	p.L883fs
UCEC	TCGA-D1-A174-01	exon_skip_104293	95735394	95735544	95735432	95735432	Frame_Shift_Del	A	-	p.L883fs
STAD	TCGA-CG-4306-01	exon_skip_104293	95735394	95735544	95735449	95735449	Frame_Shift_Del	A	-	p.L878fs
LIHC	TCGA-G3-A3CJ-01	exon_skip_104299 exon_skip_104305	95768176	95768255	95768246	95768246	Frame_Shift_Del	A	-	p.L822fs
LIHC	TCGA-G3-A3CJ-01	exon_skip_104308	95815376	95815470	95815435	95815435	Frame_Shift_Del	T	-	p.N750fs
LIHC	TCGA-DD-A1EG-01	exon_skip_104310	95816632	95816772	95816653	95816653	Frame_Shift_Del	A	-	p.I718fs
LIHC	TCGA-DD-A39Y-01	exon_skip_104310	95816632	95816772	95816660	95816660	Frame_Shift_Del	A	-	p.F716fs
LUAD	TCGA-50-6673-01	exon_skip_104311	95818412	95818621	95818595	95818595	Frame_Shift_Del	G	-	p.Y617fs
LIHC	TCGA-DD-A3A0-01	exon_skip_104320	95860054	95860179	95860131	95860131	Frame_Shift_Del	T	-	p.E278fs
ESCA	TCGA-VR-A8EO-01	exon_skip_104324	95886864	95887088	95887085	95887085	Frame_Shift_Del	T	-	p.S104fs
CESC	TCGA-Q1-A73O-01	exon_skip_104281	95696520	95696692	95696671	95696671	Nonsense_Mutation	C	A	p.E1160*
BLCA	TCGA-K4-A5RJ-01	exon_skip_104310	95816632	95816772	95816712	95816712	Nonsense_Mutation	G	A	p.Q699*
LUAD	TCGA-55-6968-01	exon_skip_104311	95818412	95818621	95818482	95818482	Nonsense_Mutation	G	C	p.S655*
KIRC	TCGA-A3-3346-01	exon_skip_104320	95860054	95860179	95860093	95860093	Nonsense_Mutation	C	T	p.W291*
UCEC	TCGA-D1-A103-01	exon_skip_104320	95860054	95860179	95860133	95860133	Nonsense_Mutation	C	A	p.E278*
LUAD	TCGA-67-3771-01	exon_skip_104323	95862946	95863035	95862948	95862948	Nonsense_Mutation	G	A	p.Q207*
UCEC	TCGA-AP-A059-01	exon_skip_104276	95686859	95686993	95686994	95686994	Splice_Site	C	A	e30-1
UCEC	TCGA-BS-A0TC-01	exon_skip_104319	95847090	95847191	95847192	95847192	Splice_Site	C	A	e9-1

- 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
NCIH1092_LUNG	95696520	95696692	95696565	95696565	Frame_Shift_Del	T	-	p.N1195fs
22RV1_PROSTATE	95735394	95735544	95735432	95735432	Frame_Shift_Del	A	-	p.L883fs
MERO84_LUNG	95735394	95735544	95735432	95735432	Frame_Shift_Del	A	-	p.L883fs
HEC59_ENDOMETRIUM	95735394	95735544	95735432	95735432	Frame_Shift_Del	A	-	p.L883fs
JHUEM1_ENDOMETRIUM	95735394	95735544	95735432	95735432	Frame_Shift_Del	A	-	p.L883fs
SNU1040_LARGE_INTESTINE	95735394	95735544	95735432	95735432	Frame_Shift_Del	A	-	p.L883fs
IGROV1_OVARY	95735394	95735544	95735432	95735432	Frame_Shift_Del	A	-	p.L883fs
KHYG_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	95735394	95735544	95735469	95735469	Frame_Shift_Del	G	-	p.L871fs
MFE280_ENDOMETRIUM	95686859	95686993	95686867	95686867	Missense_Mutation	C	T	p.A1288T
MELJUSO_SKIN	95686859	95686993	95686891	95686891	Missense_Mutation	C	T	p.E1280K
NALM6_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	95696520	95696692	95696541	95696541	Missense_Mutation	G	A	p.A1203V
SNU1040_LARGE_INTESTINE	95696520	95696692	95696541	95696541	Missense_Mutation	G	A	p.A1203V
EB3_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	95696520	95696692	95696554	95696554	Missense_Mutation	T	C	p.I1199V
C2BBE1_LARGE_INTESTINE	95735394	95735544	95735444	95735444	Missense_Mutation	C	T	p.R879Q
CACO2_LARGE_INTESTINE	95735394	95735544	95735444	95735444	Missense_Mutation	C	T	p.R879Q
NCIH1944_LUNG	95735394	95735544	95735472	95735472	Missense_Mutation	G	A	p.P870S
SNU213_PANCREAS	95735394	95735544	95735487	95735487	Missense_Mutation	C	A	p.A865S
HT144_SKIN	95768176	95768255	95768240	95768240	Missense_Mutation	C	T	p.R824H
TC138_BONE	95768176	95768255	95768243	95768243	Missense_Mutation	T	A	p.N823I
OAW28_OVARY	95768176	95768255	95768243	95768243	Missense_Mutation	T	A	p.N823I
HEC251_ENDOMETRIUM	95768176	95768255	95768252	95768252	Missense_Mutation	C	A	p.R820I
HCC1937_BREAST	95815376	95815470	95815411	95815411	Missense_Mutation	T	A	p.K758M
HCC1937_MATCHED_NORMAL_TISSUE	95815376	95815470	95815411	95815411	Missense_Mutation	T	A	p.K758M
NCIH1876_LUNG	95816632	95816772	95816684	95816684	Missense_Mutation	C	G	p.G708A
KPNYS_AUTONOMIC_GANGLIA	95816632	95816772	95816736	95816736	Missense_Mutation	G	A	p.R691C
GP2D_LARGE_INTESTINE	95818412	95818621	95818575	95818575	Missense_Mutation	C	T	p.G624D
GP5D_LARGE_INTESTINE	95818412	95818621	95818575	95818575	Missense_Mutation	C	T	p.G624D
CALU1_LUNG	95822786	95822882	95822800	95822800	Missense_Mutation	G	C	p.L604V
TCCSUP_URINARY_TRACT	95840707	95840796	95840715	95840715	Missense_Mutation	C	G	p.A449P
BE2M17_AUTONOMIC_GANGLIA	95840707	95840796	95840778	95840778	Missense_Mutation	G	T	p.L428I
HCT116_LARGE_INTESTINE	95847090	95847191	95847118	95847118	Missense_Mutation	A	G	p.V412A
NCIH1437_LUNG	95847090	95847191	95847140	95847140	Missense_Mutation	C	A	p.D405Y
NCIH2052_PLEURA	95860054	95860179	95860118	95860118	Missense_Mutation	T	C	p.I283V
NCIBL2052_MATCHED_NORMAL_TISSUE	95860054	95860179	95860118	95860118	Missense_Mutation	T	C	p.I283V
HEC59_ENDOMETRIUM	95862946	95863035	95862986	95862986	Missense_Mutation	A	G	p.I194T
IGROV1_OVARY	95862946	95863035	95862998	95862998	Missense_Mutation	G	T	p.T190N
NY_BONE	95886864	95887088	95886884	95886884	Missense_Mutation	A	C	p.C171G
KM12_LARGE_INTESTINE	95886864	95887088	95886946	95886946	Missense_Mutation	A	G	p.I150T
D247MG_CENTRAL_NERVOUS_SYSTEM	95886864	95887088	95886994	95886994	Missense_Mutation	G	T	p.A134E
HS618T_FIBROBLAST	95886864	95887088	95886994	95886994	Missense_Mutation	G	A	p.A134V
MDST8_LARGE_INTESTINE	95886864	95887088	95887025	95887025	Missense_Mutation	C	T	p.D124N
HCC2998_LARGE_INTESTINE	95886864	95887088	95887052	95887052	Missense_Mutation	T	G	p.K115Q
TMK1_STOMACH	95886864	95887088	95887067	95887067	Missense_Mutation	G	T	p.P110T
TT_THYROID	95899229	95899349	95899334	95899334	Missense_Mutation	T	G	p.E67D
HEC108_ENDOMETRIUM	95822786	95822882	95822881	95822881	Splice_Site	A	G	p.C577R
NCIH1623_LUNG	95862946	95863035	95862946	95862946	Splice_Site	C	G	p.Q207H

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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for ABCC4

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 ABCC4

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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for ABCC4

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RelatedDrugs for ABCC4

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 ABCC4

Diseases associated with this gene.
(DisGeNet 4.0)

Gene	Disease ID	Disease name	# pubmeds	Source
ABCC4	C0003873	Rheumatoid Arthritis	1	CTD_human
ABCC4	C0009404	Colorectal Neoplasms	1	CTD_human
ABCC4	C0014175	Endometriosis	1	CTD_human
ABCC4	C0027627	Neoplasm Metastasis	1	CTD_human
ABCC4	C0033578	Prostatic Neoplasms	1	CTD_human
ABCC4	C0041755	Adverse reaction to drug	1	CTD_human
ABCC4	C0236969	Substance-Related Disorders	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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