ExonSkipDB: functional annotation of exon skipping event in human

Gene summary for UMOD

Gene summary

Gene information	Gene symbol	UMOD
	Gene ID	7369
	Gene name	uromodulin
	Synonyms	ADMCKD2\|FJHN\|HNFJ\|HNFJ1\|MCKD2\|THGP\|THP
	Cytomap	16p12.3
	Type of gene	protein-coding
	Description	uromodulinTamm-Horsfall urinary glycoproteinuromucoid
	Modification date	20180522
	UniProtAcc	P07911
	Context	PubMed: UMOD [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
UMOD	GO:0007157	heterophilic cell-cell adhesion via plasma membrane cell adhesion molecules	20798515
UMOD	GO:0007159	leukocyte cell-cell adhesion	20798515
UMOD	GO:1990266	neutrophil migration	20798515

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Exon skipping events across known transcript of Ensembl for UMOD 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 UMOD

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 UMOD

Information of exkip skipping event in TCGA.

Exon skip ID	chr	Exons involved in exon skipping	Skipped exon	ENSG	ENSTs
exon_skip_142609	16	20344660:20344697:20346803:20346842:20347967:20348032	20346803:20346842	ENSG00000169344.11	ENST00000424589.1,ENST00000570689.1,ENST00000396142.2,ENST00000396138.4,ENST00000396134.2,ENST00000302509.4,ENST00000570331.1
exon_skip_142621	16	20346803:20346842:20347967:20348049:20348612:20348760	20347967:20348049	ENSG00000169344.11	ENST00000424589.1,ENST00000570689.1,ENST00000396142.2,ENST00000396138.4,ENST00000396134.2,ENST00000302509.4,ENST00000570331.1
exon_skip_142631	16	20347967:20348049:20348612:20348775:20352412:20352454	20348612:20348775	ENSG00000169344.11	ENST00000424589.1,ENST00000570689.1,ENST00000396142.2,ENST00000396138.4,ENST00000396134.2,ENST00000302509.4,ENST00000570331.1
exon_skip_142666	16	20348612:20348775:20352412:20352658:20355345:20355448	20352412:20352658	ENSG00000169344.11	ENST00000424589.1,ENST00000570689.1,ENST00000396142.2,ENST00000396138.4,ENST00000396134.2,ENST00000302509.4
exon_skip_142724	16	20352433:20352658:20355345:20355494:20357447:20357656	20355345:20355494	ENSG00000169344.11	ENST00000424589.1,ENST00000570689.1,ENST00000396142.2,ENST00000396138.4,ENST00000396134.2,ENST00000302509.4
exon_skip_142742	16	20355350:20355494:20357447:20357656:20359544:20359652	20357447:20357656	ENSG00000169344.11	ENST00000424589.1,ENST00000570689.1,ENST00000396142.2,ENST00000396138.4,ENST00000396134.2,ENST00000302509.4
exon_skip_142751	16	20357447:20357656:20359544:20359652:20359757:20360534	20359544:20359652	ENSG00000169344.11	ENST00000424589.1,ENST00000570689.1,ENST00000396142.2,ENST00000396138.4,ENST00000396134.2,ENST00000302509.4
exon_skip_142753	16	20360531:20360534:20361029:20361191:20361971:20362098	20361029:20361191	ENSG00000169344.11	ENST00000574195.1
exon_skip_142755	16	20359833:20360534:20361092:20361191:20361971:20362098	20361092:20361191	ENSG00000169344.11	ENST00000424589.1,ENST00000396134.2
exon_skip_142757	16	20360531:20360534:20361122:20361191:20361971:20362098	20361122:20361191	ENSG00000169344.11	ENST00000573567.1
exon_skip_142759	16	20361972:20362098:20362341:20362493:20364010:20364032	20362341:20362493	ENSG00000169344.11	ENST00000576688.1

PSI values of skipped exons in TCGA.

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Exon skipping events with PSIs in GTEx for UMOD

Information of exkip skipping event in GTEx

Exon skip ID	chr	Exons involved in exon skipping	Skipped exon	ENSG	ENSTs
exon_skip_142621	16	20346803:20346842:20347967:20348049:20348612:20348760	20347967:20348049	ENSG00000169344.11	ENST00000396134.2,ENST00000396138.4,ENST00000424589.1,ENST00000302509.4,ENST00000396142.2,ENST00000570689.1,ENST00000570331.1
exon_skip_142631	16	20347967:20348049:20348612:20348775:20352412:20352454	20348612:20348775	ENSG00000169344.11	ENST00000396134.2,ENST00000396138.4,ENST00000424589.1,ENST00000302509.4,ENST00000396142.2,ENST00000570689.1,ENST00000570331.1
exon_skip_142666	16	20348612:20348775:20352412:20352658:20355345:20355448	20352412:20352658	ENSG00000169344.11	ENST00000396134.2,ENST00000396138.4,ENST00000424589.1,ENST00000302509.4,ENST00000396142.2,ENST00000570689.1
exon_skip_142724	16	20352433:20352658:20355345:20355494:20357447:20357656	20355345:20355494	ENSG00000169344.11	ENST00000396134.2,ENST00000396138.4,ENST00000424589.1,ENST00000302509.4,ENST00000396142.2,ENST00000570689.1
exon_skip_142742	16	20355350:20355494:20357447:20357656:20359544:20359652	20357447:20357656	ENSG00000169344.11	ENST00000396134.2,ENST00000396138.4,ENST00000424589.1,ENST00000302509.4,ENST00000396142.2,ENST00000570689.1
exon_skip_142753	16	20360531:20360534:20361029:20361191:20361971:20362098	20361029:20361191	ENSG00000169344.11	ENST00000574195.1
exon_skip_142755	16	20359833:20360534:20361092:20361191:20361971:20362098	20361092:20361191	ENSG00000169344.11	ENST00000396134.2,ENST00000424589.1
exon_skip_142757	16	20360531:20360534:20361122:20361191:20361971:20362098	20361122:20361191	ENSG00000169344.11	ENST00000573567.1
exon_skip_142759	16	20361972:20362098:20362341:20362493:20364010:20364032	20362341:20362493	ENSG00000169344.11	ENST00000576688.1

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 UMOD

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
ENST00000302509	20347967	20348049	Frame-shift
ENST00000570689	20347967	20348049	Frame-shift
ENST00000302509	20348612	20348775	Frame-shift
ENST00000570689	20348612	20348775	Frame-shift
ENST00000302509	20355345	20355494	Frame-shift
ENST00000570689	20355345	20355494	Frame-shift
ENST00000302509	20357447	20357656	Frame-shift
ENST00000570689	20357447	20357656	Frame-shift
ENST00000302509	20346803	20346842	In-frame
ENST00000570689	20346803	20346842	In-frame
ENST00000302509	20352412	20352658	In-frame
ENST00000570689	20352412	20352658	In-frame
ENST00000302509	20359544	20359652	In-frame
ENST00000570689	20359544	20359652	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
ENST00000302509	20347967	20348049	Frame-shift
ENST00000570689	20347967	20348049	Frame-shift
ENST00000302509	20348612	20348775	Frame-shift
ENST00000570689	20348612	20348775	Frame-shift
ENST00000302509	20355345	20355494	Frame-shift
ENST00000570689	20355345	20355494	Frame-shift
ENST00000302509	20357447	20357656	Frame-shift
ENST00000570689	20357447	20357656	Frame-shift
ENST00000302509	20352412	20352658	In-frame
ENST00000570689	20352412	20352658	In-frame

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

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
ENST00000302509	2268	640	20359544	20359652	932	1039	288	324
ENST00000570689	2332	640	20359544	20359652	1013	1120	288	324
ENST00000302509	2268	640	20352412	20352658	1398	1643	444	525
ENST00000570689	2332	640	20352412	20352658	1479	1724	444	525
ENST00000302509	2268	640	20346803	20346842	1889	1927	607	620
ENST00000570689	2332	640	20346803	20346842	1970	2008	607	620

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
ENST00000302509	2268	640	20352412	20352658	1398	1643	444	525
ENST00000570689	2332	640	20352412	20352658	1479	1724	444	525

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
P07911	288	324	304	308	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4WRN
P07911	288	324	304	308	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4WRN
P07911	288	324	313	317	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4WRN
P07911	288	324	313	317	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4WRN
P07911	288	324	25	614	Chain	ID=PRO_0000041671;Note=Uromodulin
P07911	288	324	25	614	Chain	ID=PRO_0000041671;Note=Uromodulin
P07911	288	324	25	587	Chain	ID=PRO_0000407909;Note=Uromodulin%2C secreted form
P07911	288	324	25	587	Chain	ID=PRO_0000407909;Note=Uromodulin%2C secreted form
P07911	288	324	297	306	Disulfide bond	Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:26811476;Dbxref=PMID:26811476
P07911	288	324	297	306	Disulfide bond	Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:26811476;Dbxref=PMID:26811476
P07911	288	324	300	315	Disulfide bond	Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:26811476;Dbxref=PMID:26811476
P07911	288	324	300	315	Disulfide bond	Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:26811476;Dbxref=PMID:26811476
P07911	288	324	317	347	Disulfide bond	Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:26811476;Dbxref=PMID:26811476
P07911	288	324	317	347	Disulfide bond	Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:26811476;Dbxref=PMID:26811476
P07911	288	324	322	322	Glycosylation	Note=N-linked (GlcNAc...) (complex) asparagine;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:22171320;Dbxref=PMID:22171320
P07911	288	324	322	322	Glycosylation	Note=N-linked (GlcNAc...) (complex) asparagine;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:22171320;Dbxref=PMID:22171320
P07911	288	324	296	299	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4WRN
P07911	288	324	296	299	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4WRN
P07911	288	324	300	300	Natural variant	ID=VAR_025960;Note=In HNFJ1. C->G;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:12629136;Dbxref=dbSNP:rs121917772,PMID:12629136
P07911	288	324	300	300	Natural variant	ID=VAR_025960;Note=In HNFJ1. C->G;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:12629136;Dbxref=dbSNP:rs121917772,PMID:12629136
P07911	288	324	315	315	Natural variant	ID=VAR_025961;Note=In GCKDHI%3B causes a delay in protein export to the plasma membrane due to a longer retention time in the ER. C->R;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269\|PubMed:14570709,ECO:0000269\|PubMed:17010121;Dbxref=dbSNP:rs12
P07911	288	324	315	315	Natural variant	ID=VAR_025961;Note=In GCKDHI%3B causes a delay in protein export to the plasma membrane due to a longer retention time in the ER. C->R;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269\|PubMed:14570709,ECO:0000269\|PubMed:17010121;Dbxref=dbSNP:rs12
P07911	288	324	316	316	Natural variant	ID=VAR_073068;Note=In HNFJ1. Q->P;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:15983957;Dbxref=PMID:15983957
P07911	288	324	316	316	Natural variant	ID=VAR_073068;Note=In HNFJ1. Q->P;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:15983957;Dbxref=PMID:15983957
P07911	288	324	317	317	Natural variant	ID=VAR_025962;Note=In HNFJ1%3B phenotype overlapping with medullary cystic kidney disease%3B causes a delay in protein export to the plasma membrane due to a longer retention time in the ER. C->Y;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:14570
P07911	288	324	317	317	Natural variant	ID=VAR_025962;Note=In HNFJ1%3B phenotype overlapping with medullary cystic kidney disease%3B causes a delay in protein export to the plasma membrane due to a longer retention time in the ER. C->Y;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:14570
P07911	288	324	288	288	Sequence conflict	Note=T->A;Ontology_term=ECO:0000305;evidence=ECO:0000305
P07911	288	324	288	288	Sequence conflict	Note=T->A;Ontology_term=ECO:0000305;evidence=ECO:0000305
P07911	444	525	443	450	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4WRN
P07911	444	525	443	450	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4WRN
P07911	444	525	454	465	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4WRN
P07911	444	525	454	465	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4WRN
P07911	444	525	473	475	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4WRN
P07911	444	525	473	475	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4WRN
P07911	444	525	477	479	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4WRN
P07911	444	525	477	479	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4WRN
P07911	444	525	485	494	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4WRN
P07911	444	525	485	494	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4WRN
P07911	444	525	499	512	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4WRN
P07911	444	525	499	512	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4WRN
P07911	444	525	520	524	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4WRN
P07911	444	525	520	524	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4WRN
P07911	444	525	25	614	Chain	ID=PRO_0000041671;Note=Uromodulin
P07911	444	525	25	614	Chain	ID=PRO_0000041671;Note=Uromodulin
P07911	444	525	25	587	Chain	ID=PRO_0000407909;Note=Uromodulin%2C secreted form
P07911	444	525	25	587	Chain	ID=PRO_0000407909;Note=Uromodulin%2C secreted form
P07911	444	525	506	566	Disulfide bond	Ontology_term=ECO:0000255,ECO:0000269;evidence=ECO:0000255\|PROSITE-ProRule:PRU00076,ECO:0000269\|PubMed:26811476;Dbxref=PMID:26811476
P07911	444	525	506	566	Disulfide bond	Ontology_term=ECO:0000255,ECO:0000269;evidence=ECO:0000255\|PROSITE-ProRule:PRU00076,ECO:0000269\|PubMed:26811476;Dbxref=PMID:26811476
P07911	444	525	334	589	Domain	Note=ZP;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00375
P07911	444	525	334	589	Domain	Note=ZP;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00375
P07911	444	525	458	458	Mutagenesis	Note=Leads to retention in the endoplasmic reticulum%2C probably due to misfolding. V->R;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:19005207;Dbxref=PMID:19005207
P07911	444	525	458	458	Mutagenesis	Note=Leads to retention in the endoplasmic reticulum%2C probably due to misfolding. V->R;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:19005207;Dbxref=PMID:19005207
P07911	444	525	458	458	Natural variant	ID=VAR_061993;Note=V->L;Dbxref=dbSNP:rs55772253
P07911	444	525	458	458	Natural variant	ID=VAR_061993;Note=V->L;Dbxref=dbSNP:rs55772253
P07911	444	525	461	461	Natural variant	ID=VAR_071401;Note=In HNFJ1. A->E;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:21060763;Dbxref=PMID:21060763
P07911	444	525	461	461	Natural variant	ID=VAR_071401;Note=In HNFJ1. A->E;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:21060763;Dbxref=PMID:21060763
P07911	444	525	430	453	Region	Note=Important for secretion and polymerization into filaments;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:26811476;Dbxref=PMID:26811476
P07911	444	525	430	453	Region	Note=Important for secretion and polymerization into filaments;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:26811476;Dbxref=PMID:26811476
P07911	444	525	503	503	Sequence conflict	Note=M->I;Ontology_term=ECO:0000305;evidence=ECO:0000305
P07911	444	525	503	503	Sequence conflict	Note=M->I;Ontology_term=ECO:0000305;evidence=ECO:0000305
P07911	444	525	451	453	Turn	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4WRN
P07911	444	525	451	453	Turn	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4WRN
P07911	444	525	496	498	Turn	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4WRN
P07911	444	525	496	498	Turn	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4WRN
P07911	607	620	25	614	Chain	ID=PRO_0000041671;Note=Uromodulin
P07911	607	620	25	614	Chain	ID=PRO_0000041671;Note=Uromodulin
P07911	607	620	614	614	Lipidation	Note=GPI-anchor amidated serine;Ontology_term=ECO:0000255;evidence=ECO:0000255
P07911	607	620	614	614	Lipidation	Note=GPI-anchor amidated serine;Ontology_term=ECO:0000255;evidence=ECO:0000255
P07911	607	620	605	607	Mutagenesis	Note=No effect on secretion. Does not impair polymerization. TRK->AAA;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:19005207;Dbxref=PMID:19005207
P07911	607	620	605	607	Mutagenesis	Note=No effect on secretion. Does not impair polymerization. TRK->AAA;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:19005207;Dbxref=PMID:19005207
P07911	607	620	615	640	Propeptide	ID=PRO_0000041672;Note=Removed in mature form;Ontology_term=ECO:0000255;evidence=ECO:0000255
P07911	607	620	615	640	Propeptide	ID=PRO_0000041672;Note=Removed in mature form;Ontology_term=ECO:0000255;evidence=ECO:0000255
P07911	607	620	598	607	Region	Note=Regulates polymerization into filaments;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:19005207;Dbxref=PMID:19005207
P07911	607	620	598	607	Region	Note=Regulates polymerization into filaments;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:19005207;Dbxref=PMID:19005207

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
P07911	444	525	443	450	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4WRN
P07911	444	525	443	450	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4WRN
P07911	444	525	454	465	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4WRN
P07911	444	525	454	465	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4WRN
P07911	444	525	473	475	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4WRN
P07911	444	525	473	475	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4WRN
P07911	444	525	477	479	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4WRN
P07911	444	525	477	479	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4WRN
P07911	444	525	485	494	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4WRN
P07911	444	525	485	494	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4WRN
P07911	444	525	499	512	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4WRN
P07911	444	525	499	512	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4WRN
P07911	444	525	520	524	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4WRN
P07911	444	525	520	524	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4WRN
P07911	444	525	25	614	Chain	ID=PRO_0000041671;Note=Uromodulin
P07911	444	525	25	614	Chain	ID=PRO_0000041671;Note=Uromodulin
P07911	444	525	25	587	Chain	ID=PRO_0000407909;Note=Uromodulin%2C secreted form
P07911	444	525	25	587	Chain	ID=PRO_0000407909;Note=Uromodulin%2C secreted form
P07911	444	525	506	566	Disulfide bond	Ontology_term=ECO:0000255,ECO:0000269;evidence=ECO:0000255\|PROSITE-ProRule:PRU00076,ECO:0000269\|PubMed:26811476;Dbxref=PMID:26811476
P07911	444	525	506	566	Disulfide bond	Ontology_term=ECO:0000255,ECO:0000269;evidence=ECO:0000255\|PROSITE-ProRule:PRU00076,ECO:0000269\|PubMed:26811476;Dbxref=PMID:26811476
P07911	444	525	334	589	Domain	Note=ZP;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00375
P07911	444	525	334	589	Domain	Note=ZP;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00375
P07911	444	525	458	458	Mutagenesis	Note=Leads to retention in the endoplasmic reticulum%2C probably due to misfolding. V->R;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:19005207;Dbxref=PMID:19005207
P07911	444	525	458	458	Mutagenesis	Note=Leads to retention in the endoplasmic reticulum%2C probably due to misfolding. V->R;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:19005207;Dbxref=PMID:19005207
P07911	444	525	458	458	Natural variant	ID=VAR_061993;Note=V->L;Dbxref=dbSNP:rs55772253
P07911	444	525	458	458	Natural variant	ID=VAR_061993;Note=V->L;Dbxref=dbSNP:rs55772253
P07911	444	525	461	461	Natural variant	ID=VAR_071401;Note=In HNFJ1. A->E;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:21060763;Dbxref=PMID:21060763
P07911	444	525	461	461	Natural variant	ID=VAR_071401;Note=In HNFJ1. A->E;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:21060763;Dbxref=PMID:21060763
P07911	444	525	430	453	Region	Note=Important for secretion and polymerization into filaments;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:26811476;Dbxref=PMID:26811476
P07911	444	525	430	453	Region	Note=Important for secretion and polymerization into filaments;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:26811476;Dbxref=PMID:26811476
P07911	444	525	503	503	Sequence conflict	Note=M->I;Ontology_term=ECO:0000305;evidence=ECO:0000305
P07911	444	525	503	503	Sequence conflict	Note=M->I;Ontology_term=ECO:0000305;evidence=ECO:0000305
P07911	444	525	451	453	Turn	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4WRN
P07911	444	525	451	453	Turn	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4WRN
P07911	444	525	496	498	Turn	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4WRN
P07911	444	525	496	498	Turn	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4WRN

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SNVs in the skipped exons for UMOD

- 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-G3-A3CJ-01	exon_skip_142666	20352413	20352658	20352577	20352577	Frame_Shift_Del	G	-	p.P504fs
LIHC	TCGA-DD-A3A0-01	exon_skip_142724	20355346	20355494	20355362	20355362	Frame_Shift_Del	G	-	p.L472fs
LIHC	TCGA-DD-A3A0-01	exon_skip_142742	20357448	20357656	20357596	20357596	Frame_Shift_Del	C	-	p.G378fs
LIHC	TCGA-DD-A1EG-01	exon_skip_142742	20357448	20357656	20357621	20357621	Frame_Shift_Del	C	-	p.A370fs
LUSC	TCGA-22-5478-01	exon_skip_142631	20348613	20348775	20348632	20348633	Frame_Shift_Ins	-	T	p.M607fs
STAD	TCGA-HU-A4G8-01	exon_skip_142666	20352413	20352658	20352437	20352438	Frame_Shift_Ins	-	G	p.L518fs
STAD	TCGA-HU-A4G8-01	exon_skip_142666	20352413	20352658	20352438	20352439	Frame_Shift_Ins	-	G	p.L551fs
LUAD	TCGA-44-5644-01	exon_skip_142631	20348613	20348775	20348729	20348729	Nonsense_Mutation	C	A	p.E575*
SKCM	TCGA-DA-A1I0-06	exon_skip_142666	20352413	20352658	20352420	20352420	Nonsense_Mutation	G	A	p.Q557*
BLCA	TCGA-E7-A4IJ-01	exon_skip_142666	20352413	20352658	20352498	20352498	Nonsense_Mutation	G	A	p.R531*
UCEC	TCGA-AP-A056-01	exon_skip_142666	20352413	20352658	20352411	20352411	Splice_Site	A	G	e6+2
LUAD	TCGA-78-7542-01	exon_skip_142724	20355346	20355494	20355495	20355495	Splice_Site	C	T	p.R395_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
NCIH1568_LUNG	20346804	20346842	20346818	20346818	Missense_Mutation	G	A	p.A616V
786O_KIDNEY	20347968	20348049	20347992	20347992	Missense_Mutation	T	A	p.N600Y
HEC50B_ENDOMETRIUM	20348613	20348775	20348620	20348620	Missense_Mutation	C	T	p.C578Y
LS411N_LARGE_INTESTINE	20348613	20348775	20348651	20348651	Missense_Mutation	C	T	p.V568I
MSTO211H_PLEURA	20348613	20348775	20348729	20348729	Missense_Mutation	C	T	p.E542K
CAL12T_LUNG	20348613	20348775	20348766	20348766	Missense_Mutation	G	C	p.H529Q
NCIH2126_LUNG	20352413	20352658	20352418	20352418	Missense_Mutation	C	A	p.Q524H
SNU1105_CENTRAL_NERVOUS_SYSTEM	20352413	20352658	20352491	20352491	Missense_Mutation	G	A	p.A500V
PEDS005TPFAD_KIDNEY	20352413	20352658	20352515	20352515	Missense_Mutation	T	C	p.D492G
SW1783_CENTRAL_NERVOUS_SYSTEM	20352413	20352658	20352531	20352531	Missense_Mutation	C	T	p.V487M
SNUC1_LARGE_INTESTINE	20352413	20352658	20352551	20352551	Missense_Mutation	G	T	p.S480Y
SN12C_KIDNEY	20352413	20352658	20352606	20352606	Missense_Mutation	G	T	p.L462I
PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	20355346	20355494	20355365	20355365	Missense_Mutation	C	T	p.A438T
SNUC4_LARGE_INTESTINE	20355346	20355494	20355371	20355371	Missense_Mutation	T	C	p.K436E
ECGI10_OESOPHAGUS	20355346	20355494	20355406	20355406	Missense_Mutation	G	A	p.A424V
SNU387_LIVER	20355346	20355494	20355455	20355455	Missense_Mutation	G	T	p.L408M
HCT15_LARGE_INTESTINE	20355346	20355494	20355480	20355480	Missense_Mutation	A	C	p.H399Q
TFK1_BILIARY_TRACT	20357448	20357656	20357499	20357499	Missense_Mutation	C	G	p.W377C
DSH1_URINARY_TRACT	20357448	20357656	20357499	20357499	Missense_Mutation	C	G	p.W377C
CW9019_SOFT_TISSUE	20357448	20357656	20357530	20357530	Missense_Mutation	G	A	p.S367L
HCC366_LUNG	20357448	20357656	20357565	20357565	Missense_Mutation	G	T	p.D355E
LU134A_LUNG	20357448	20357656	20357567	20357567	Missense_Mutation	C	T	p.D355N
HCC1438_LUNG	20357448	20357656	20357596	20357596	Missense_Mutation	C	A	p.G345V
HS746T_STOMACH	20357448	20357656	20357633	20357633	Missense_Mutation	G	T	p.L333M
KMS11_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	20357448	20357656	20357650	20357650	Missense_Mutation	G	A	p.S327F
GOS3_CENTRAL_NERVOUS_SYSTEM	20359545	20359652	20359616	20359616	Missense_Mutation	C	T	p.S301N
T98G_CENTRAL_NERVOUS_SYSTEM	20359545	20359652	20359646	20359646	Missense_Mutation	C	A	p.S291I
MONOMAC1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	20359545	20359652	20359647	20359647	Missense_Mutation	T	C	p.S291G
MONOMAC6_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	20359545	20359652	20359647	20359647	Missense_Mutation	T	C	p.S291G
SN12C_KIDNEY	20346804	20346842	20346804	20346804	Splice_Site	C	A	p.G621W
DMS153_LUNG	20357448	20357656	20357448	20357448	Splice_Site	C	T	p.T394T
L428_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	20357448	20357656	20357449	20357449	Splice_Site	G	A	p.T394M

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

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 UMOD

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

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RelatedDrugs for UMOD

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 UMOD

Diseases associated with this gene.
(DisGeNet 4.0)

Gene	Disease ID	Disease name	# pubmeds	Source
UMOD	C0268113	Familial juvenile gout	13	CTD_human;ORPHANET;UNIPROT
UMOD	C1859040	Medullary Cystic Kidney Disease Type 2	5	CTD_human;UNIPROT
UMOD	C0022658	Kidney Diseases	2	CTD_human;HPO
UMOD	C1835934	Glomerulocystic Kidney Disease with Hyperuricemia and Isosthenuria	2	CTD_human;UNIPROT
UMOD	C0020538	Hypertensive 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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