ExonSkipDB: functional annotation of exon skipping event in human

Gene summary for RERE

Gene summary

Gene information	Gene symbol	RERE
	Gene ID	473
	Gene name	arginine-glutamic acid dipeptide repeats
	Synonyms	ARG\|ARP\|ATN1L\|DNB1\|NEDBEH
	Cytomap	1p36.23
	Type of gene	protein-coding
	Description	arginine-glutamic acid dipeptide repeats proteinarginine-glutamic acid dipeptide (RE) repeatsatrophin 2atrophin-1 like proteinatrophin-1 related protein
	Modification date	20180523
	UniProtAcc	Q9P2R6
	Context	PubMed: RERE [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 RERE 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 RERE

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 RERE

Information of exkip skipping event in TCGA.

Exon skip ID	chr	Exons involved in exon skipping	Skipped exon	ENSG	ENSTs
exon_skip_21488	1	8414685:8415180:8415478:8415659:8416159:8416306	8415478:8415659	ENSG00000142599.13	ENST00000476556.1,ENST00000337907.3,ENST00000377464.1,ENST00000400908.2
exon_skip_21495	1	8418255:8418976:8419823:8420046:8420171:8421550	8419823:8420046	ENSG00000142599.13	ENST00000476556.1,ENST00000337907.3,ENST00000377464.1,ENST00000400908.2
exon_skip_21499	1	8424115:8424315:8424805:8424898:8425871:8426034	8424805:8424898	ENSG00000142599.13	ENST00000476556.1,ENST00000337907.3,ENST00000377464.1,ENST00000488215.1,ENST00000400908.2
exon_skip_21501	1	8425939:8426034:8482786:8482867:8525984:8526083	8482786:8482867	ENSG00000142599.13	ENST00000337907.3,ENST00000377464.1,ENST00000400907.2,ENST00000400908.2
exon_skip_21502	1	8482849:8482867:8483226:8483307:8483620:8483726	8483226:8483307	ENSG00000142599.13	ENST00000492766.1
exon_skip_21506	1	8482849:8482867:8525984:8526083:8555122:8555222	8525984:8526083	ENSG00000142599.13	ENST00000337907.3,ENST00000464972.1,ENST00000377464.1,ENST00000400907.2,ENST00000400908.2
exon_skip_21513	1	8557464:8557589:8568685:8568734:8585817:8585998	8568685:8568734	ENSG00000142599.13	ENST00000377464.1
exon_skip_21514	1	8557464:8557589:8568685:8568734:8601272:8601377	8568685:8568734	ENSG00000142599.13	ENST00000480342.1,ENST00000337907.3,ENST00000400907.2,ENST00000400908.2
exon_skip_21517	1	8568685:8568734:8579768:8579851:8585817:8585998	8579768:8579851	ENSG00000142599.13	ENST00000464972.1
exon_skip_21518	1	8568685:8568734:8601272:8601377:8616533:8616630	8601272:8601377	ENSG00000142599.13	ENST00000480342.1,ENST00000337907.3,ENST00000400907.2,ENST00000400908.2
exon_skip_21523	1	8617476:8617582:8674619:8674745:8684368:8684439	8674619:8674745	ENSG00000142599.13	ENST00000480342.1,ENST00000337907.3,ENST00000400907.2,ENST00000400908.2
exon_skip_21527	1	8674619:8674745:8684368:8684439:8716031:8716430	8684368:8684439	ENSG00000142599.13	ENST00000480342.1,ENST00000337907.3,ENST00000400907.2,ENST00000400908.2

PSI values of skipped exons in TCGA.

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Exon skipping events with PSIs in GTEx for RERE

Information of exkip skipping event in GTEx

Exon skip ID	chr	Exons involved in exon skipping	Skipped exon	ENSG	ENSTs
exon_skip_21488	1	8414685:8415180:8415478:8415659:8416159:8416306	8415478:8415659	ENSG00000142599.13	ENST00000337907.3,ENST00000377464.1,ENST00000476556.1,ENST00000400908.2
exon_skip_21495	1	8418255:8418976:8419823:8420046:8420171:8421550	8419823:8420046	ENSG00000142599.13	ENST00000337907.3,ENST00000377464.1,ENST00000476556.1,ENST00000400908.2
exon_skip_21499	1	8424115:8424315:8424805:8424898:8425871:8426034	8424805:8424898	ENSG00000142599.13	ENST00000337907.3,ENST00000377464.1,ENST00000476556.1,ENST00000400908.2,ENST00000488215.1
exon_skip_21501	1	8425939:8426034:8482786:8482867:8525984:8526083	8482786:8482867	ENSG00000142599.13	ENST00000337907.3,ENST00000377464.1,ENST00000400907.2,ENST00000400908.2
exon_skip_21502	1	8482849:8482867:8483226:8483307:8483620:8483726	8483226:8483307	ENSG00000142599.13	ENST00000492766.1
exon_skip_21506	1	8482849:8482867:8525984:8526083:8555122:8555222	8525984:8526083	ENSG00000142599.13	ENST00000337907.3,ENST00000377464.1,ENST00000400907.2,ENST00000400908.2,ENST00000464972.1
exon_skip_21513	1	8557464:8557589:8568685:8568734:8585817:8585998	8568685:8568734	ENSG00000142599.13	ENST00000377464.1
exon_skip_21514	1	8557464:8557589:8568685:8568734:8601272:8601377	8568685:8568734	ENSG00000142599.13	ENST00000337907.3,ENST00000400907.2,ENST00000400908.2,ENST00000480342.1
exon_skip_21517	1	8568685:8568734:8579768:8579851:8585817:8585998	8579768:8579851	ENSG00000142599.13	ENST00000464972.1
exon_skip_21518	1	8568685:8568734:8601272:8601377:8616533:8616630	8601272:8601377	ENSG00000142599.13	ENST00000337907.3,ENST00000400907.2,ENST00000400908.2,ENST00000480342.1
exon_skip_21523	1	8617476:8617582:8674619:8674745:8684368:8684439	8674619:8674745	ENSG00000142599.13	ENST00000337907.3,ENST00000400907.2,ENST00000400908.2,ENST00000480342.1
exon_skip_21527	1	8674619:8674745:8684368:8684439:8716031:8716430	8684368:8684439	ENSG00000142599.13	ENST00000337907.3,ENST00000400907.2,ENST00000400908.2,ENST00000480342.1

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 RERE

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
ENST00000337907	8415478	8415659	Frame-shift
ENST00000400908	8415478	8415659	Frame-shift
ENST00000337907	8419823	8420046	Frame-shift
ENST00000400908	8419823	8420046	Frame-shift
ENST00000337907	8568685	8568734	Frame-shift
ENST00000400908	8568685	8568734	Frame-shift
ENST00000337907	8684368	8684439	Frame-shift
ENST00000400908	8684368	8684439	Frame-shift
ENST00000337907	8424805	8424898	In-frame
ENST00000400908	8424805	8424898	In-frame
ENST00000337907	8482786	8482867	In-frame
ENST00000400908	8482786	8482867	In-frame
ENST00000337907	8525984	8526083	In-frame
ENST00000400908	8525984	8526083	In-frame
ENST00000337907	8601272	8601377	In-frame
ENST00000400908	8601272	8601377	In-frame
ENST00000337907	8674619	8674745	In-frame
ENST00000400908	8674619	8674745	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
ENST00000337907	8415478	8415659	Frame-shift
ENST00000400908	8415478	8415659	Frame-shift
ENST00000337907	8419823	8420046	Frame-shift
ENST00000400908	8419823	8420046	Frame-shift
ENST00000337907	8568685	8568734	Frame-shift
ENST00000400908	8568685	8568734	Frame-shift
ENST00000337907	8684368	8684439	Frame-shift
ENST00000400908	8684368	8684439	Frame-shift
ENST00000337907	8424805	8424898	In-frame
ENST00000400908	8424805	8424898	In-frame
ENST00000337907	8482786	8482867	In-frame
ENST00000400908	8482786	8482867	In-frame
ENST00000337907	8525984	8526083	In-frame
ENST00000400908	8525984	8526083	In-frame
ENST00000337907	8601272	8601377	In-frame
ENST00000400908	8601272	8601377	In-frame
ENST00000337907	8674619	8674745	In-frame
ENST00000400908	8674619	8674745	In-frame

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

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
ENST00000337907	8043	1566	8674619	8674745	1032	1157	132	174
ENST00000400908	5807	1566	8674619	8674745	1025	1150	132	174
ENST00000337907	8043	1566	8601272	8601377	1361	1465	242	276
ENST00000400908	5807	1566	8601272	8601377	1354	1458	242	276
ENST00000337907	8043	1566	8525984	8526083	1740	1838	368	401
ENST00000400908	5807	1566	8525984	8526083	1733	1831	368	401
ENST00000337907	8043	1566	8482786	8482867	1839	1919	401	428
ENST00000400908	5807	1566	8482786	8482867	1832	1912	401	428
ENST00000337907	8043	1566	8424805	8424898	2083	2175	482	513
ENST00000400908	5807	1566	8424805	8424898	2076	2168	482	513

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
ENST00000337907	8043	1566	8674619	8674745	1032	1157	132	174
ENST00000400908	5807	1566	8674619	8674745	1025	1150	132	174
ENST00000337907	8043	1566	8601272	8601377	1361	1465	242	276
ENST00000400908	5807	1566	8601272	8601377	1354	1458	242	276
ENST00000337907	8043	1566	8525984	8526083	1740	1838	368	401
ENST00000400908	5807	1566	8525984	8526083	1733	1831	368	401
ENST00000337907	8043	1566	8482786	8482867	1839	1919	401	428
ENST00000400908	5807	1566	8482786	8482867	1832	1912	401	428
ENST00000337907	8043	1566	8424805	8424898	2083	2175	482	513
ENST00000400908	5807	1566	8424805	8424898	2076	2168	482	513

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
Q9P2R6	132	174	1	554	Alternative sequence	ID=VSP_016878;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|Ref.3
Q9P2R6	132	174	1	554	Alternative sequence	ID=VSP_016878;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|Ref.3
Q9P2R6	132	174	1	1566	Chain	ID=PRO_0000083504;Note=Arginine-glutamic acid dipeptide repeats protein
Q9P2R6	132	174	1	1566	Chain	ID=PRO_0000083504;Note=Arginine-glutamic acid dipeptide repeats protein
Q9P2R6	132	174	103	283	Domain	Note=BAH;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00370
Q9P2R6	132	174	103	283	Domain	Note=BAH;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00370
Q9P2R6	132	174	142	142	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250\|UniProtKB:Q80TZ9
Q9P2R6	132	174	142	142	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250\|UniProtKB:Q80TZ9
Q9P2R6	242	276	1	554	Alternative sequence	ID=VSP_016878;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|Ref.3
Q9P2R6	242	276	1	554	Alternative sequence	ID=VSP_016878;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|Ref.3
Q9P2R6	242	276	1	1566	Chain	ID=PRO_0000083504;Note=Arginine-glutamic acid dipeptide repeats protein
Q9P2R6	242	276	1	1566	Chain	ID=PRO_0000083504;Note=Arginine-glutamic acid dipeptide repeats protein
Q9P2R6	242	276	103	283	Domain	Note=BAH;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00370
Q9P2R6	242	276	103	283	Domain	Note=BAH;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00370
Q9P2R6	368	401	1	554	Alternative sequence	ID=VSP_016878;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|Ref.3
Q9P2R6	368	401	1	554	Alternative sequence	ID=VSP_016878;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|Ref.3
Q9P2R6	368	401	1	1566	Chain	ID=PRO_0000083504;Note=Arginine-glutamic acid dipeptide repeats protein
Q9P2R6	368	401	1	1566	Chain	ID=PRO_0000083504;Note=Arginine-glutamic acid dipeptide repeats protein
Q9P2R6	368	401	284	387	Domain	Note=ELM2;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00512
Q9P2R6	368	401	284	387	Domain	Note=ELM2;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00512
Q9P2R6	368	401	391	443	Domain	Note=SANT;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00624
Q9P2R6	368	401	391	443	Domain	Note=SANT;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00624
Q9P2R6	368	401	398	410	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2YQK
Q9P2R6	368	401	398	410	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2YQK
Q9P2R6	401	428	1	554	Alternative sequence	ID=VSP_016878;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|Ref.3
Q9P2R6	401	428	1	554	Alternative sequence	ID=VSP_016878;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|Ref.3
Q9P2R6	401	428	1	1566	Chain	ID=PRO_0000083504;Note=Arginine-glutamic acid dipeptide repeats protein
Q9P2R6	401	428	1	1566	Chain	ID=PRO_0000083504;Note=Arginine-glutamic acid dipeptide repeats protein
Q9P2R6	401	428	391	443	Domain	Note=SANT;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00624
Q9P2R6	401	428	391	443	Domain	Note=SANT;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00624
Q9P2R6	401	428	398	410	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2YQK
Q9P2R6	401	428	398	410	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2YQK
Q9P2R6	401	428	415	421	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2YQK
Q9P2R6	401	428	415	421	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2YQK
Q9P2R6	401	428	428	439	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2YQK
Q9P2R6	401	428	428	439	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2YQK
Q9P2R6	482	513	1	554	Alternative sequence	ID=VSP_016878;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|Ref.3
Q9P2R6	482	513	1	554	Alternative sequence	ID=VSP_016878;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|Ref.3
Q9P2R6	482	513	1	1566	Chain	ID=PRO_0000083504;Note=Arginine-glutamic acid dipeptide repeats protein
Q9P2R6	482	513	1	1566	Chain	ID=PRO_0000083504;Note=Arginine-glutamic acid dipeptide repeats protein
Q9P2R6	482	513	507	532	Zinc finger	Note=GATA-type
Q9P2R6	482	513	507	532	Zinc finger	Note=GATA-type

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
Q9P2R6	132	174	1	554	Alternative sequence	ID=VSP_016878;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|Ref.3
Q9P2R6	132	174	1	554	Alternative sequence	ID=VSP_016878;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|Ref.3
Q9P2R6	132	174	1	1566	Chain	ID=PRO_0000083504;Note=Arginine-glutamic acid dipeptide repeats protein
Q9P2R6	132	174	1	1566	Chain	ID=PRO_0000083504;Note=Arginine-glutamic acid dipeptide repeats protein
Q9P2R6	132	174	103	283	Domain	Note=BAH;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00370
Q9P2R6	132	174	103	283	Domain	Note=BAH;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00370
Q9P2R6	132	174	142	142	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250\|UniProtKB:Q80TZ9
Q9P2R6	132	174	142	142	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250\|UniProtKB:Q80TZ9
Q9P2R6	242	276	1	554	Alternative sequence	ID=VSP_016878;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|Ref.3
Q9P2R6	242	276	1	554	Alternative sequence	ID=VSP_016878;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|Ref.3
Q9P2R6	242	276	1	1566	Chain	ID=PRO_0000083504;Note=Arginine-glutamic acid dipeptide repeats protein
Q9P2R6	242	276	1	1566	Chain	ID=PRO_0000083504;Note=Arginine-glutamic acid dipeptide repeats protein
Q9P2R6	242	276	103	283	Domain	Note=BAH;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00370
Q9P2R6	242	276	103	283	Domain	Note=BAH;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00370
Q9P2R6	368	401	1	554	Alternative sequence	ID=VSP_016878;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|Ref.3
Q9P2R6	368	401	1	554	Alternative sequence	ID=VSP_016878;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|Ref.3
Q9P2R6	368	401	1	1566	Chain	ID=PRO_0000083504;Note=Arginine-glutamic acid dipeptide repeats protein
Q9P2R6	368	401	1	1566	Chain	ID=PRO_0000083504;Note=Arginine-glutamic acid dipeptide repeats protein
Q9P2R6	368	401	284	387	Domain	Note=ELM2;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00512
Q9P2R6	368	401	284	387	Domain	Note=ELM2;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00512
Q9P2R6	368	401	391	443	Domain	Note=SANT;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00624
Q9P2R6	368	401	391	443	Domain	Note=SANT;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00624
Q9P2R6	368	401	398	410	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2YQK
Q9P2R6	368	401	398	410	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2YQK
Q9P2R6	401	428	1	554	Alternative sequence	ID=VSP_016878;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|Ref.3
Q9P2R6	401	428	1	554	Alternative sequence	ID=VSP_016878;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|Ref.3
Q9P2R6	401	428	1	1566	Chain	ID=PRO_0000083504;Note=Arginine-glutamic acid dipeptide repeats protein
Q9P2R6	401	428	1	1566	Chain	ID=PRO_0000083504;Note=Arginine-glutamic acid dipeptide repeats protein
Q9P2R6	401	428	391	443	Domain	Note=SANT;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00624
Q9P2R6	401	428	391	443	Domain	Note=SANT;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00624
Q9P2R6	401	428	398	410	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2YQK
Q9P2R6	401	428	398	410	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2YQK
Q9P2R6	401	428	415	421	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2YQK
Q9P2R6	401	428	415	421	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2YQK
Q9P2R6	401	428	428	439	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2YQK
Q9P2R6	401	428	428	439	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2YQK
Q9P2R6	482	513	1	554	Alternative sequence	ID=VSP_016878;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|Ref.3
Q9P2R6	482	513	1	554	Alternative sequence	ID=VSP_016878;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|Ref.3
Q9P2R6	482	513	1	1566	Chain	ID=PRO_0000083504;Note=Arginine-glutamic acid dipeptide repeats protein
Q9P2R6	482	513	1	1566	Chain	ID=PRO_0000083504;Note=Arginine-glutamic acid dipeptide repeats protein
Q9P2R6	482	513	507	532	Zinc finger	Note=GATA-type
Q9P2R6	482	513	507	532	Zinc finger	Note=GATA-type

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SNVs in the skipped exons for RERE

- 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.

RERE_STAD_exon_skip_21488_psi_boxplot.png
boxplot

RERE_STAD_exon_skip_21523_psi_boxplot.png
boxplot

- 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
STAD	TCGA-BR-8487-01	exon_skip_21488	8415479	8415659	8415652	8415652	Frame_Shift_Del	G	-	p.P1498fs
STAD	TCGA-BR-8487-01	exon_skip_21488	8415479	8415659	8415652	8415652	Frame_Shift_Del	G	-	p.Y1499fs
STAD	TCGA-BR-4362-01	exon_skip_21495	8419824	8420046	8420009	8420010	Frame_Shift_Del	CA	-	p.1145_1145del
STAD	TCGA-BR-4362-01	exon_skip_21495	8419824	8420046	8420009	8420010	Frame_Shift_Del	CA	-	p.A1145fs
STAD	TCGA-D7-A6EY-01	exon_skip_21523	8674620	8674745	8674690	8674690	Frame_Shift_Del	G	-	p.P151fs
CHOL	TCGA-W5-AA2O-01	exon_skip_21488	8415479	8415659	8415615	8415616	Frame_Shift_Ins	-	G	p.V1511fs
STAD	TCGA-BR-4292-01	exon_skip_21523	8674620	8674745	8674689	8674690	Frame_Shift_Ins	-	G	p.P151fs
STAD	TCGA-BR-4292-01	exon_skip_21523	8674620	8674745	8674690	8674691	Frame_Shift_Ins	-	G	p.P151fs
STAD	TCGA-HU-8602-01	exon_skip_21501	8482787	8482867	8482843	8482843	Nonsense_Mutation	G	A	p.Q410*
STAD	TCGA-HU-8602-01	exon_skip_21501	8482787	8482867	8482843	8482843	Nonsense_Mutation	G	A	p.Q410X
STAD	TCGA-HU-A4H3-01	exon_skip_21488	8415479	8415659	8415661	8415661	Splice_Site	T	G	p.G1496_splice

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

Depth of coverage in three exons	Mutation description
	Sample: TCGA-D7-A6EY-01
	Cancer type: STAD
	ESID: exon_skip_21523
	Skipped exon start: 8674620
	Skipped exon end: 8674745
	Mutation start: 8674690
	Mutation end: 8674690
	Mutation type: Frame_Shift_Del
	Reference seq: G
	Mutation seq: -
	AAchange: p.P151fs
exon_skip_100237_STAD_TCGA-D7-A6EY-01.png
exon_skip_21523_STAD_TCGA-D7-A6EY-01.png
exon_skip_37321_STAD_TCGA-D7-A6EY-01.png
exon_skip_377023_STAD_TCGA-D7-A6EY-01.png
exon_skip_425876_STAD_TCGA-D7-A6EY-01.png
exon_skip_469411_STAD_TCGA-D7-A6EY-01.png
exon_skip_489149_STAD_TCGA-D7-A6EY-01.png
exon_skip_93963_STAD_TCGA-D7-A6EY-01.png
	Sample: TCGA-HU-A4H3-01
	Cancer type: STAD
	ESID: exon_skip_21488
	Skipped exon start: 8415479
	Skipped exon end: 8415659
	Mutation start: 8415661
	Mutation end: 8415661
	Mutation type: Splice_Site
	Reference seq: T
	Mutation seq: G
	AAchange: p.G1496_splice
exon_skip_101895_STAD_TCGA-HU-A4H3-01.png
exon_skip_101900_STAD_TCGA-HU-A4H3-01.png
exon_skip_134053_STAD_TCGA-HU-A4H3-01.png
exon_skip_142361_STAD_TCGA-HU-A4H3-01.png
exon_skip_21488_STAD_TCGA-HU-A4H3-01.png
exon_skip_286384_STAD_TCGA-HU-A4H3-01.png
exon_skip_299738_STAD_TCGA-HU-A4H3-01.png
exon_skip_307491_STAD_TCGA-HU-A4H3-01.png
exon_skip_308974_STAD_TCGA-HU-A4H3-01.png
exon_skip_308983_STAD_TCGA-HU-A4H3-01.png
exon_skip_312995_STAD_TCGA-HU-A4H3-01.png
exon_skip_320688_STAD_TCGA-HU-A4H3-01.png
exon_skip_320689_STAD_TCGA-HU-A4H3-01.png
exon_skip_320690_STAD_TCGA-HU-A4H3-01.png
exon_skip_328488_STAD_TCGA-HU-A4H3-01.png
exon_skip_330511_STAD_TCGA-HU-A4H3-01.png
exon_skip_450406_STAD_TCGA-HU-A4H3-01.png
exon_skip_60290_STAD_TCGA-HU-A4H3-01.png
exon_skip_60294_STAD_TCGA-HU-A4H3-01.png
exon_skip_69561_STAD_TCGA-HU-A4H3-01.png
exon_skip_74347_STAD_TCGA-HU-A4H3-01.png
exon_skip_8059_STAD_TCGA-HU-A4H3-01.png

- 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
MFE319_ENDOMETRIUM	8415479	8415659	8415645	8415645	Frame_Shift_Del	G	-	p.R1501fs
NCIH69_LUNG	8419824	8420046	8419993	8420000	Frame_Shift_Del	TACAGGTC	-	p.DLY1148fs
NCIH69_LUNG	8419824	8420046	8419997	8420003	Frame_Shift_Del	GGTCTGT	-	p.TDL1147fs
LU165_LUNG	8419824	8420046	8420030	8420030	Frame_Shift_Del	C	-	p.D1138fs
NUGC3_STOMACH	8674620	8674745	8674690	8674690	Frame_Shift_Del	G	-	p.P151fs
NCIH69_LUNG	8419824	8420046	8419991	8419992	Frame_Shift_Ins	-	GT	p.F1151fs
NCIH69_LUNG	8419824	8420046	8420003	8420004	Frame_Shift_Ins	-	A	p.T1147fs
SKNEP1_BONE	8419824	8420046	8419848	8419849	In_Frame_Ins	-	CGCTCT	p.1198_1198R>RER
NCIH146_LUNG	8419824	8420046	8419848	8419849	In_Frame_Ins	-	CGCTCT	p.1198_1198R>RER
786O_KIDNEY	8415479	8415659	8415550	8415550	Missense_Mutation	C	G	p.M1532I
CCK81_LARGE_INTESTINE	8415479	8415659	8415590	8415590	Missense_Mutation	G	A	p.A1519V
SCMCRM2_SOFT_TISSUE	8415479	8415659	8415602	8415602	Missense_Mutation	T	G	p.H1515P
A253_SALIVARY_GLAND	8415479	8415659	8415615	8415615	Missense_Mutation	T	G	p.M1511L
C8166_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	8415479	8415659	8415615	8415615	Missense_Mutation	T	G	p.M1511L
COLO794_SKIN	8415479	8415659	8415615	8415615	Missense_Mutation	T	G	p.M1511L
D458_CENTRAL_NERVOUS_SYSTEM	8415479	8415659	8415615	8415615	Missense_Mutation	T	G	p.M1511L
ESO26_OESOPHAGUS	8415479	8415659	8415615	8415615	Missense_Mutation	T	G	p.M1511L
ESO51_OESOPHAGUS	8415479	8415659	8415615	8415615	Missense_Mutation	T	G	p.M1511L
JAR_PLACENTA	8415479	8415659	8415615	8415615	Missense_Mutation	T	G	p.M1511L
MCC142_SKIN	8415479	8415659	8415615	8415615	Missense_Mutation	T	G	p.M1511L
MCC26_SKIN	8415479	8415659	8415615	8415615	Missense_Mutation	T	G	p.M1511L
MERO48A_LUNG	8415479	8415659	8415615	8415615	Missense_Mutation	T	G	p.M1511L
MM370_SKIN	8415479	8415659	8415615	8415615	Missense_Mutation	T	G	p.M1511L
MM383_SKIN	8415479	8415659	8415615	8415615	Missense_Mutation	T	G	p.M1511L
OCUM1_STOMACH	8415479	8415659	8415615	8415615	Missense_Mutation	T	G	p.M1511L
OV17R_OVARY	8415479	8415659	8415615	8415615	Missense_Mutation	T	G	p.M1511L
PACADD119_PANCREAS	8415479	8415659	8415615	8415615	Missense_Mutation	T	G	p.M1511L
PACADD161_PANCREAS	8415479	8415659	8415615	8415615	Missense_Mutation	T	G	p.M1511L
CCLFPEDS0018T_SOFT_TISSUE	8415479	8415659	8415615	8415615	Missense_Mutation	T	G	p.M1511L
RH28_SOFT_TISSUE	8415479	8415659	8415615	8415615	Missense_Mutation	T	G	p.M1511L
RH30_SOFT_TISSUE	8415479	8415659	8415615	8415615	Missense_Mutation	T	G	p.M1511L
SKGT4_OESOPHAGUS	8415479	8415659	8415615	8415615	Missense_Mutation	T	G	p.M1511L
RCHACV_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	8415479	8415659	8415644	8415644	Missense_Mutation	C	T	p.R1501H
KMRC1_KIDNEY	8419824	8420046	8419843	8419843	Missense_Mutation	C	T	p.R1200H
LS513_LARGE_INTESTINE	8419824	8420046	8419850	8419850	Missense_Mutation	G	A	p.R1198W
HCC1588_LUNG	8419824	8420046	8419850	8419850	Missense_Mutation	G	A	p.R1198W
MHHPREB1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	8419824	8420046	8419862	8419862	Missense_Mutation	G	A	p.R1194W
RVH421_SKIN	8419824	8420046	8419873	8419874	Missense_Mutation	TT	CG	p.K1190R
LXF289_LUNG	8419824	8420046	8419891	8419891	Missense_Mutation	C	T	p.R1184Q
HS821T_FIBROBLAST	8419824	8420046	8419897	8419897	Missense_Mutation	C	T	p.R1182Q
HCC1569_BREAST	8419824	8420046	8419903	8419903	Missense_Mutation	T	A	p.E1180V
SUDHL5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	8419824	8420046	8419906	8419906	Missense_Mutation	C	T	p.R1179Q
CHP212_AUTONOMIC_GANGLIA	8419824	8420046	8419906	8419906	Missense_Mutation	C	A	p.R1179L
WM1799_SKIN	8419824	8420046	8419967	8419967	Missense_Mutation	G	T	p.L1159M
COGE352_BONE	8419824	8420046	8420009	8420009	Missense_Mutation	C	G	p.A1145P
DU145_PROSTATE	8601273	8601377	8601291	8601291	Missense_Mutation	C	A	p.G271V
SKOV3_OVARY	8601273	8601377	8601301	8601301	Missense_Mutation	A	G	p.Y268H
BICR18_UPPER_AERODIGESTIVE_TRACT	8674620	8674745	8674624	8674624	Missense_Mutation	A	C	p.V173G
DAUDI_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	8674620	8674745	8674624	8674624	Missense_Mutation	A	C	p.V173G
COLO668_LUNG	8674620	8674745	8674662	8674662	Missense_Mutation	C	A	p.Q160H
DAUDI_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	8674620	8674745	8674667	8674667	Missense_Mutation	A	G	p.S159P
CP66MEL_SKIN	8674620	8674745	8674673	8674673	Missense_Mutation	C	T	p.V157M
DAUDI_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	8674620	8674745	8674701	8674701	Missense_Mutation	C	G	p.L147F
BICR18_UPPER_AERODIGESTIVE_TRACT	8674620	8674745	8674701	8674701	Missense_Mutation	C	G	p.L147F
DAUDI_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	8674620	8674745	8674712	8674712	Missense_Mutation	T	C	p.T144A
SW900_LUNG	8684369	8684439	8684410	8684410	Missense_Mutation	T	C	p.N119D
TOLEDO_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	8419824	8420046	8419895	8419895	Nonsense_Mutation	C	A	p.E1183*
NCIH2023_LUNG	8601273	8601377	8601280	8601280	Nonsense_Mutation	C	A	p.E275*
COLO792_SKIN	8415479	8415659	8415659	8415659	Splice_Site	C	T	p.G1496D

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

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 RERE

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

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RelatedDrugs for RERE

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 RERE

Diseases associated with this gene.
(DisGeNet 4.0)

Gene	Disease ID	Disease name	# pubmeds	Source
RERE	C3495559	Juvenile arthritis	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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