ExonSkipDB: functional annotation of exon skipping event in human

Gene summary for NBR1

Gene summary

Gene information	Gene symbol	NBR1
	Gene ID	4077
	Gene name	NBR1, autophagy cargo receptor
	Synonyms	1A1-3B\|IAI3B\|M17S2\|MIG19
	Cytomap	17q21.31
	Type of gene	protein-coding
	Description	next to BRCA1 gene 1 proteinB-box proteincell migration-inducing gene 19 proteinmembrane component, chromosome 17, surface marker 2 (ovarian carcinoma antigen CA125)migration-inducing protein 19neighbor of BRCA1 gene 1
	Modification date	20180523
	UniProtAcc	Q14596
	Context	PubMed: NBR1 [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
NBR1	GO:0016236	macroautophagy	19250911
NBR1	GO:0051259	protein complex oligomerization	19250911

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Exon skipping events across known transcript of Ensembl for NBR1 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 NBR1

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 NBR1

Information of exkip skipping event in TCGA.

Exon skip ID	chr	Exons involved in exon skipping	Skipped exon	ENSG	ENSTs
exon_skip_152942	17	41327807:41327918:41329952:41330015:41331410:41331429	41329952:41330015	ENSG00000188554.9	ENST00000589872.1,ENST00000422280.1,ENST00000341165.6,ENST00000590996.1
exon_skip_152944	17	41331410:41331429:41332811:41332834:41338266:41338461	41332811:41332834	ENSG00000188554.9	ENST00000589872.1,ENST00000422280.1,ENST00000341165.6,ENST00000590996.1,ENST00000542611.1
exon_skip_152945	17	41332811:41332834:41338266:41338461:41341058:41341136	41338266:41338461	ENSG00000188554.9	ENST00000589872.1,ENST00000422280.1,ENST00000341165.6,ENST00000590996.1,ENST00000389312.4,ENST00000542611.1
exon_skip_152947	17	41341604:41341819:41342625:41342793:41343388:41343598	41342625:41342793	ENSG00000188554.9	ENST00000589872.1,ENST00000422280.1,ENST00000341165.6,ENST00000590996.1,ENST00000389312.4,ENST00000542611.1
exon_skip_152948	17	41342625:41342793:41343388:41343598:41345110:41345270	41343388:41343598	ENSG00000188554.9	ENST00000589872.1,ENST00000422280.1,ENST00000585505.1,ENST00000341165.6,ENST00000590996.1,ENST00000389312.4,ENST00000542611.1
exon_skip_152949	17	41345364:41345655:41346366:41346516:41346980:41347056	41346366:41346516	ENSG00000188554.9	ENST00000589872.1,ENST00000422280.1,ENST00000341165.6,ENST00000590996.1,ENST00000389312.4,ENST00000542611.1
exon_skip_152951	17	41346980:41347056:41348497:41348608:41348958:41349123	41348497:41348608	ENSG00000188554.9	ENST00000589872.1,ENST00000422280.1,ENST00000341165.6,ENST00000590996.1,ENST00000389312.4,ENST00000542611.1
exon_skip_152957	17	41348497:41348608:41348958:41349123:41352183:41352324	41348958:41349123	ENSG00000188554.9	ENST00000589872.1,ENST00000422280.1,ENST00000341165.6,ENST00000590996.1,ENST00000389312.4,ENST00000542611.1
exon_skip_152962	17	41348958:41349123:41352183:41352625:41353702:41353797	41352183:41352625	ENSG00000188554.9	ENST00000589872.1,ENST00000422280.1,ENST00000341165.6,ENST00000590996.1,ENST00000389312.4,ENST00000542611.1
exon_skip_152967	17	41352183:41352625:41353702:41353797:41354671:41354729	41353702:41353797	ENSG00000188554.9	ENST00000589872.1,ENST00000422280.1,ENST00000341165.6,ENST00000590996.1,ENST00000389312.4
exon_skip_152970	17	41352183:41352625:41353702:41353797:41361919:41362012	41353702:41353797	ENSG00000188554.9	ENST00000542611.1
exon_skip_152986	17	41353737:41353797:41354671:41354729:41355697:41355803	41354671:41354729	ENSG00000188554.9	ENST00000589872.1,ENST00000422280.1,ENST00000341165.6,ENST00000590996.1,ENST00000389312.4
exon_skip_152991	17	41354671:41354729:41355697:41355803:41361919:41362012	41355697:41355803	ENSG00000188554.9	ENST00000422280.1,ENST00000341165.6,ENST00000590996.1,ENST00000389312.4

PSI values of skipped exons in TCGA.

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Exon skipping events with PSIs in GTEx for NBR1

Information of exkip skipping event in GTEx

Exon skip ID	chr	Exons involved in exon skipping	Skipped exon	ENSG	ENSTs
exon_skip_152942	17	41327807:41327918:41329952:41330015:41331410:41331429	41329952:41330015	ENSG00000188554.9	ENST00000341165.6,ENST00000422280.1,ENST00000590996.1,ENST00000589872.1
exon_skip_152944	17	41331410:41331429:41332811:41332834:41338266:41338461	41332811:41332834	ENSG00000188554.9	ENST00000341165.6,ENST00000422280.1,ENST00000542611.1,ENST00000590996.1,ENST00000589872.1
exon_skip_152945	17	41332811:41332834:41338266:41338461:41341058:41341136	41338266:41338461	ENSG00000188554.9	ENST00000341165.6,ENST00000422280.1,ENST00000542611.1,ENST00000590996.1,ENST00000389312.4,ENST00000589872.1
exon_skip_152947	17	41341604:41341819:41342625:41342793:41343388:41343598	41342625:41342793	ENSG00000188554.9	ENST00000341165.6,ENST00000422280.1,ENST00000542611.1,ENST00000590996.1,ENST00000389312.4,ENST00000589872.1
exon_skip_152948	17	41342625:41342793:41343388:41343598:41345110:41345270	41343388:41343598	ENSG00000188554.9	ENST00000341165.6,ENST00000422280.1,ENST00000542611.1,ENST00000590996.1,ENST00000389312.4,ENST00000589872.1,ENST00000585505.1
exon_skip_152949	17	41345364:41345655:41346366:41346516:41346980:41347056	41346366:41346516	ENSG00000188554.9	ENST00000341165.6,ENST00000422280.1,ENST00000542611.1,ENST00000590996.1,ENST00000389312.4,ENST00000589872.1
exon_skip_152951	17	41346980:41347056:41348497:41348608:41348958:41349123	41348497:41348608	ENSG00000188554.9	ENST00000341165.6,ENST00000422280.1,ENST00000542611.1,ENST00000590996.1,ENST00000389312.4,ENST00000589872.1
exon_skip_152957	17	41348497:41348608:41348958:41349123:41352183:41352324	41348958:41349123	ENSG00000188554.9	ENST00000341165.6,ENST00000422280.1,ENST00000542611.1,ENST00000590996.1,ENST00000389312.4,ENST00000589872.1
exon_skip_152962	17	41348958:41349123:41352183:41352625:41353702:41353797	41352183:41352625	ENSG00000188554.9	ENST00000341165.6,ENST00000422280.1,ENST00000542611.1,ENST00000590996.1,ENST00000389312.4,ENST00000589872.1
exon_skip_152967	17	41352183:41352625:41353702:41353797:41354671:41354729	41353702:41353797	ENSG00000188554.9	ENST00000341165.6,ENST00000422280.1,ENST00000590996.1,ENST00000389312.4,ENST00000589872.1
exon_skip_152970	17	41352183:41352625:41353702:41353797:41361919:41362012	41353702:41353797	ENSG00000188554.9	ENST00000542611.1
exon_skip_152986	17	41353737:41353797:41354671:41354729:41355697:41355803	41354671:41354729	ENSG00000188554.9	ENST00000341165.6,ENST00000422280.1,ENST00000590996.1,ENST00000389312.4,ENST00000589872.1
exon_skip_152991	17	41354671:41354729:41355697:41355803:41361919:41362012	41355697:41355803	ENSG00000188554.9	ENST00000341165.6,ENST00000422280.1,ENST00000590996.1,ENST00000389312.4

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 NBR1

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
ENST00000341165	41332811	41332834	Frame-shift
ENST00000590996	41332811	41332834	Frame-shift
ENST00000341165	41352183	41352625	Frame-shift
ENST00000590996	41352183	41352625	Frame-shift
ENST00000341165	41353702	41353797	Frame-shift
ENST00000590996	41353702	41353797	Frame-shift
ENST00000341165	41354671	41354729	Frame-shift
ENST00000590996	41354671	41354729	Frame-shift
ENST00000341165	41355697	41355803	Frame-shift
ENST00000590996	41355697	41355803	Frame-shift
ENST00000341165	41329952	41330015	In-frame
ENST00000590996	41329952	41330015	In-frame
ENST00000341165	41338266	41338461	In-frame
ENST00000590996	41338266	41338461	In-frame
ENST00000341165	41342625	41342793	In-frame
ENST00000590996	41342625	41342793	In-frame
ENST00000341165	41343388	41343598	In-frame
ENST00000590996	41343388	41343598	In-frame
ENST00000341165	41346366	41346516	In-frame
ENST00000590996	41346366	41346516	In-frame
ENST00000341165	41348497	41348608	In-frame
ENST00000590996	41348497	41348608	In-frame
ENST00000341165	41348958	41349123	In-frame
ENST00000590996	41348958	41349123	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
ENST00000341165	41332811	41332834	Frame-shift
ENST00000590996	41332811	41332834	Frame-shift
ENST00000341165	41352183	41352625	Frame-shift
ENST00000590996	41352183	41352625	Frame-shift
ENST00000341165	41353702	41353797	Frame-shift
ENST00000590996	41353702	41353797	Frame-shift
ENST00000341165	41354671	41354729	Frame-shift
ENST00000590996	41354671	41354729	Frame-shift
ENST00000341165	41355697	41355803	Frame-shift
ENST00000590996	41355697	41355803	Frame-shift
ENST00000341165	41329952	41330015	In-frame
ENST00000590996	41329952	41330015	In-frame
ENST00000341165	41338266	41338461	In-frame
ENST00000590996	41338266	41338461	In-frame
ENST00000341165	41342625	41342793	In-frame
ENST00000590996	41342625	41342793	In-frame
ENST00000341165	41343388	41343598	In-frame
ENST00000590996	41343388	41343598	In-frame
ENST00000341165	41346366	41346516	In-frame
ENST00000590996	41346366	41346516	In-frame
ENST00000341165	41348497	41348608	In-frame
ENST00000590996	41348497	41348608	In-frame
ENST00000341165	41348958	41349123	In-frame
ENST00000590996	41348958	41349123	In-frame

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Infer the effects of exon skipping event on protein functional features for NBR1

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
ENST00000341165	4673	966	41329952	41330015	243	305	34	55
ENST00000590996	3463	966	41329952	41330015	201	263	34	55
ENST00000341165	4673	966	41338266	41338461	348	542	69	134
ENST00000590996	3463	966	41338266	41338461	306	500	69	134
ENST00000341165	4673	966	41342625	41342793	836	1003	232	287
ENST00000590996	3463	966	41342625	41342793	794	961	232	287
ENST00000341165	4673	966	41343388	41343598	1004	1213	288	357
ENST00000590996	3463	966	41343388	41343598	962	1171	288	357
ENST00000341165	4673	966	41346366	41346516	1665	1814	508	558
ENST00000590996	3463	966	41346366	41346516	1623	1772	508	558
ENST00000341165	4673	966	41348497	41348608	1891	2001	583	620
ENST00000590996	3463	966	41348497	41348608	1849	1959	583	620
ENST00000341165	4673	966	41348958	41349123	2002	2166	620	675
ENST00000590996	3463	966	41348958	41349123	1960	2124	620	675

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
ENST00000341165	4673	966	41329952	41330015	243	305	34	55
ENST00000590996	3463	966	41329952	41330015	201	263	34	55
ENST00000341165	4673	966	41338266	41338461	348	542	69	134
ENST00000590996	3463	966	41338266	41338461	306	500	69	134
ENST00000341165	4673	966	41342625	41342793	836	1003	232	287
ENST00000590996	3463	966	41342625	41342793	794	961	232	287
ENST00000341165	4673	966	41343388	41343598	1004	1213	288	357
ENST00000590996	3463	966	41343388	41343598	962	1171	288	357
ENST00000341165	4673	966	41346366	41346516	1665	1814	508	558
ENST00000590996	3463	966	41346366	41346516	1623	1772	508	558
ENST00000341165	4673	966	41348497	41348608	1891	2001	583	620
ENST00000590996	3463	966	41348497	41348608	1849	1959	583	620
ENST00000341165	4673	966	41348958	41349123	2002	2166	620	675
ENST00000590996	3463	966	41348958	41349123	1960	2124	620	675

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
Q14596	34	55	42	49	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2BKF
Q14596	34	55	42	49	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2BKF
Q14596	34	55	55	58	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2BKF
Q14596	34	55	55	58	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2BKF
Q14596	34	55	1	966	Chain	ID=PRO_0000096746;Note=Next to BRCA1 gene 1 protein
Q14596	34	55	1	966	Chain	ID=PRO_0000096746;Note=Next to BRCA1 gene 1 protein
Q14596	34	55	4	85	Domain	Note=PB1;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU01081
Q14596	34	55	4	85	Domain	Note=PB1;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU01081
Q14596	34	55	28	39	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2BKF
Q14596	34	55	28	39	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2BKF
Q14596	34	55	50	50	Mutagenesis	Note=Loss of interaction with SQSTM1. D->R;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269\|PubMed:12813044,ECO:0000269\|PubMed:19250911;Dbxref=PMID:12813044,PMID:19250911
Q14596	34	55	50	50	Mutagenesis	Note=Loss of interaction with SQSTM1. D->R;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269\|PubMed:12813044,ECO:0000269\|PubMed:19250911;Dbxref=PMID:12813044,PMID:19250911
Q14596	69	134	77	84	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2BKF
Q14596	69	134	77	84	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2BKF
Q14596	69	134	1	966	Chain	ID=PRO_0000096746;Note=Next to BRCA1 gene 1 protein
Q14596	69	134	1	966	Chain	ID=PRO_0000096746;Note=Next to BRCA1 gene 1 protein
Q14596	69	134	4	85	Domain	Note=PB1;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU01081
Q14596	69	134	4	85	Domain	Note=PB1;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU01081
Q14596	69	134	61	73	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2BKF
Q14596	69	134	61	73	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2BKF
Q14596	69	134	116	116	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244\|PubMed:23186163;Dbxref=PMID:23186163
Q14596	69	134	116	116	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244\|PubMed:23186163;Dbxref=PMID:23186163
Q14596	69	134	74	76	Turn	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2BKF
Q14596	69	134	74	76	Turn	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2BKF
Q14596	232	287	1	966	Chain	ID=PRO_0000096746;Note=Next to BRCA1 gene 1 protein
Q14596	232	287	1	966	Chain	ID=PRO_0000096746;Note=Next to BRCA1 gene 1 protein
Q14596	232	287	211	257	Zinc finger	Note=ZZ-type;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00228
Q14596	232	287	211	257	Zinc finger	Note=ZZ-type;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00228
Q14596	288	357	1	966	Chain	ID=PRO_0000096746;Note=Next to BRCA1 gene 1 protein
Q14596	288	357	1	966	Chain	ID=PRO_0000096746;Note=Next to BRCA1 gene 1 protein
Q14596	508	558	1	966	Chain	ID=PRO_0000096746;Note=Next to BRCA1 gene 1 protein
Q14596	508	558	1	966	Chain	ID=PRO_0000096746;Note=Next to BRCA1 gene 1 protein
Q14596	508	558	542	636	Region	Note=ATG8 family protein-binding
Q14596	508	558	542	636	Region	Note=ATG8 family protein-binding
Q14596	583	620	1	966	Chain	ID=PRO_0000096746;Note=Next to BRCA1 gene 1 protein
Q14596	583	620	1	966	Chain	ID=PRO_0000096746;Note=Next to BRCA1 gene 1 protein
Q14596	583	620	590	590	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250\|UniProtKB:Q501R9
Q14596	583	620	590	590	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250\|UniProtKB:Q501R9
Q14596	583	620	596	596	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250\|UniProtKB:Q501R9
Q14596	583	620	596	596	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250\|UniProtKB:Q501R9
Q14596	583	620	542	636	Region	Note=ATG8 family protein-binding
Q14596	583	620	542	636	Region	Note=ATG8 family protein-binding
Q14596	620	675	1	966	Chain	ID=PRO_0000096746;Note=Next to BRCA1 gene 1 protein
Q14596	620	675	1	966	Chain	ID=PRO_0000096746;Note=Next to BRCA1 gene 1 protein
Q14596	620	675	625	625	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244\|PubMed:23186163;Dbxref=PMID:23186163
Q14596	620	675	625	625	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244\|PubMed:23186163;Dbxref=PMID:23186163
Q14596	620	675	542	636	Region	Note=ATG8 family protein-binding
Q14596	620	675	542	636	Region	Note=ATG8 family protein-binding

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
Q14596	34	55	42	49	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2BKF
Q14596	34	55	42	49	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2BKF
Q14596	34	55	55	58	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2BKF
Q14596	34	55	55	58	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2BKF
Q14596	34	55	1	966	Chain	ID=PRO_0000096746;Note=Next to BRCA1 gene 1 protein
Q14596	34	55	1	966	Chain	ID=PRO_0000096746;Note=Next to BRCA1 gene 1 protein
Q14596	34	55	4	85	Domain	Note=PB1;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU01081
Q14596	34	55	4	85	Domain	Note=PB1;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU01081
Q14596	34	55	28	39	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2BKF
Q14596	34	55	28	39	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2BKF
Q14596	34	55	50	50	Mutagenesis	Note=Loss of interaction with SQSTM1. D->R;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269\|PubMed:12813044,ECO:0000269\|PubMed:19250911;Dbxref=PMID:12813044,PMID:19250911
Q14596	34	55	50	50	Mutagenesis	Note=Loss of interaction with SQSTM1. D->R;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269\|PubMed:12813044,ECO:0000269\|PubMed:19250911;Dbxref=PMID:12813044,PMID:19250911
Q14596	69	134	77	84	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2BKF
Q14596	69	134	77	84	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2BKF
Q14596	69	134	1	966	Chain	ID=PRO_0000096746;Note=Next to BRCA1 gene 1 protein
Q14596	69	134	1	966	Chain	ID=PRO_0000096746;Note=Next to BRCA1 gene 1 protein
Q14596	69	134	4	85	Domain	Note=PB1;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU01081
Q14596	69	134	4	85	Domain	Note=PB1;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU01081
Q14596	69	134	61	73	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2BKF
Q14596	69	134	61	73	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2BKF
Q14596	69	134	116	116	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244\|PubMed:23186163;Dbxref=PMID:23186163
Q14596	69	134	116	116	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244\|PubMed:23186163;Dbxref=PMID:23186163
Q14596	69	134	74	76	Turn	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2BKF
Q14596	69	134	74	76	Turn	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2BKF
Q14596	232	287	1	966	Chain	ID=PRO_0000096746;Note=Next to BRCA1 gene 1 protein
Q14596	232	287	1	966	Chain	ID=PRO_0000096746;Note=Next to BRCA1 gene 1 protein
Q14596	232	287	211	257	Zinc finger	Note=ZZ-type;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00228
Q14596	232	287	211	257	Zinc finger	Note=ZZ-type;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00228
Q14596	288	357	1	966	Chain	ID=PRO_0000096746;Note=Next to BRCA1 gene 1 protein
Q14596	288	357	1	966	Chain	ID=PRO_0000096746;Note=Next to BRCA1 gene 1 protein
Q14596	508	558	1	966	Chain	ID=PRO_0000096746;Note=Next to BRCA1 gene 1 protein
Q14596	508	558	1	966	Chain	ID=PRO_0000096746;Note=Next to BRCA1 gene 1 protein
Q14596	508	558	542	636	Region	Note=ATG8 family protein-binding
Q14596	508	558	542	636	Region	Note=ATG8 family protein-binding
Q14596	583	620	1	966	Chain	ID=PRO_0000096746;Note=Next to BRCA1 gene 1 protein
Q14596	583	620	1	966	Chain	ID=PRO_0000096746;Note=Next to BRCA1 gene 1 protein
Q14596	583	620	590	590	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250\|UniProtKB:Q501R9
Q14596	583	620	590	590	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250\|UniProtKB:Q501R9
Q14596	583	620	596	596	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250\|UniProtKB:Q501R9
Q14596	583	620	596	596	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250\|UniProtKB:Q501R9
Q14596	583	620	542	636	Region	Note=ATG8 family protein-binding
Q14596	583	620	542	636	Region	Note=ATG8 family protein-binding
Q14596	620	675	1	966	Chain	ID=PRO_0000096746;Note=Next to BRCA1 gene 1 protein
Q14596	620	675	1	966	Chain	ID=PRO_0000096746;Note=Next to BRCA1 gene 1 protein
Q14596	620	675	625	625	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244\|PubMed:23186163;Dbxref=PMID:23186163
Q14596	620	675	625	625	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244\|PubMed:23186163;Dbxref=PMID:23186163
Q14596	620	675	542	636	Region	Note=ATG8 family protein-binding
Q14596	620	675	542	636	Region	Note=ATG8 family protein-binding

Top

SNVs in the skipped exons for NBR1

- 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.

NBR1_COAD_exon_skip_152962_psi_boxplot.png
boxplot

NBR1_LIHC_exon_skip_152962_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
LIHC	TCGA-DD-A39Y-01	exon_skip_152942	41329953	41330015	41329988	41329988	Frame_Shift_Del	A	-	p.I46fs
LIHC	TCGA-G3-A3CJ-01	exon_skip_152945	41338267	41338461	41338284	41338284	Frame_Shift_Del	A	-	p.G75fs
LIHC	TCGA-G3-A3CJ-01	exon_skip_152945	41338267	41338461	41338439	41338439	Frame_Shift_Del	C	-	p.T127fs
LIHC	TCGA-DD-A1EG-01	exon_skip_152947	41342626	41342793	41342677	41342677	Frame_Shift_Del	C	-	p.G249fs
LIHC	TCGA-DD-A3A0-01	exon_skip_152948	41343389	41343598	41343420	41343420	Frame_Shift_Del	A	-	p.K299fs
LIHC	TCGA-DD-A39Y-01	exon_skip_152949	41346367	41346516	41346456	41346456	Frame_Shift_Del	A	-	p.A538fs
COAD	TCGA-CK-5913-01	exon_skip_152962	41352184	41352625	41352389	41352389	Frame_Shift_Del	C	-	p.R744fs
LIHC	TCGA-DD-A3A0-01	exon_skip_152962	41352184	41352625	41352389	41352389	Frame_Shift_Del	C	-	p.R744fs
UCEC	TCGA-BS-A0TJ-01	exon_skip_152962	41352184	41352625	41352389	41352389	Frame_Shift_Del	C	-	p.R744fs
BLCA	TCGA-BT-A42C-01	exon_skip_152962	41352184	41352625	41352619	41352619	Frame_Shift_Del	T	-	p.L821fs
LIHC	TCGA-G3-A3CJ-01	exon_skip_152991	41355698	41355803	41355737	41355737	Frame_Shift_Del	G	-	p.K887fs
COAD	TCGA-CM-6674-01	exon_skip_152949	41346367	41346516	41346400	41346401	Frame_Shift_Ins	-	T	p.L520fs
LIHC	TCGA-BC-A112-01	exon_skip_152962	41352184	41352625	41352494	41352495	Frame_Shift_Ins	-	G	p.A779fs
STAD	TCGA-BR-8363-01	exon_skip_152948	41343389	41343598	41343441	41343441	Nonsense_Mutation	C	T	p.R306X
COAD	TCGA-CA-6718-01	exon_skip_152948	41343389	41343598	41343477	41343477	Nonsense_Mutation	G	T	p.E318X
BRCA	TCGA-BH-A1FN-01	exon_skip_152957	41348959	41349123	41349048	41349048	Nonsense_Mutation	G	T	p.E651*
KIRC	TCGA-CJ-4918-01	exon_skip_152957	41348959	41349123	41349125	41349125	Splice_Site	T	C	.

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

Depth of coverage in three exons	Mutation description
	Sample: TCGA-CK-5913-01
	Cancer type: COAD
	ESID: exon_skip_152962
	Skipped exon start: 41352184
	Skipped exon end: 41352625
	Mutation start: 41352389
	Mutation end: 41352389
	Mutation type: Frame_Shift_Del
	Reference seq: C
	Mutation seq: -
	AAchange: p.R744fs
exon_skip_108215_COAD_TCGA-CK-5913-01.png
exon_skip_152962_COAD_TCGA-CK-5913-01.png
exon_skip_284290_COAD_TCGA-CK-5913-01.png
exon_skip_304901_COAD_TCGA-CK-5913-01.png
exon_skip_307695_COAD_TCGA-CK-5913-01.png
exon_skip_346508_COAD_TCGA-CK-5913-01.png
exon_skip_347690_COAD_TCGA-CK-5913-01.png
exon_skip_3490_COAD_TCGA-CK-5913-01.png
	Sample: TCGA-BC-A112-01
	Cancer type: LIHC
	ESID: exon_skip_152962
	Skipped exon start: 41352184
	Skipped exon end: 41352625
	Mutation start: 41352494
	Mutation end: 41352495
	Mutation type: Frame_Shift_Ins
	Reference seq: -
	Mutation seq: G
	AAchange: p.A779fs
exon_skip_114200_LIHC_TCGA-BC-A112-01.png
exon_skip_131894_LIHC_TCGA-BC-A112-01.png
exon_skip_135820_LIHC_TCGA-BC-A112-01.png
exon_skip_138911_LIHC_TCGA-BC-A112-01.png
exon_skip_141587_LIHC_TCGA-BC-A112-01.png
exon_skip_142606_LIHC_TCGA-BC-A112-01.png
exon_skip_146695_LIHC_TCGA-BC-A112-01.png
exon_skip_146697_LIHC_TCGA-BC-A112-01.png
exon_skip_152962_LIHC_TCGA-BC-A112-01.png
exon_skip_155765_LIHC_TCGA-BC-A112-01.png
exon_skip_1757_LIHC_TCGA-BC-A112-01.png
exon_skip_1879_LIHC_TCGA-BC-A112-01.png
exon_skip_1881_LIHC_TCGA-BC-A112-01.png
exon_skip_266_LIHC_TCGA-BC-A112-01.png
exon_skip_284527_LIHC_TCGA-BC-A112-01.png
exon_skip_286998_LIHC_TCGA-BC-A112-01.png
exon_skip_293546_LIHC_TCGA-BC-A112-01.png
exon_skip_293549_LIHC_TCGA-BC-A112-01.png
exon_skip_306900_LIHC_TCGA-BC-A112-01.png
exon_skip_311841_LIHC_TCGA-BC-A112-01.png
exon_skip_325884_LIHC_TCGA-BC-A112-01.png
exon_skip_326432_LIHC_TCGA-BC-A112-01.png
exon_skip_32825_LIHC_TCGA-BC-A112-01.png
exon_skip_331787_LIHC_TCGA-BC-A112-01.png
exon_skip_337208_LIHC_TCGA-BC-A112-01.png
exon_skip_337747_LIHC_TCGA-BC-A112-01.png
exon_skip_339045_LIHC_TCGA-BC-A112-01.png
exon_skip_344031_LIHC_TCGA-BC-A112-01.png
exon_skip_35548_LIHC_TCGA-BC-A112-01.png
exon_skip_35556_LIHC_TCGA-BC-A112-01.png
exon_skip_359720_LIHC_TCGA-BC-A112-01.png
exon_skip_37056_LIHC_TCGA-BC-A112-01.png
exon_skip_37483_LIHC_TCGA-BC-A112-01.png
exon_skip_37491_LIHC_TCGA-BC-A112-01.png
exon_skip_375724_LIHC_TCGA-BC-A112-01.png
exon_skip_378789_LIHC_TCGA-BC-A112-01.png
exon_skip_386291_LIHC_TCGA-BC-A112-01.png
exon_skip_41850_LIHC_TCGA-BC-A112-01.png
exon_skip_435931_LIHC_TCGA-BC-A112-01.png
exon_skip_436296_LIHC_TCGA-BC-A112-01.png
exon_skip_438393_LIHC_TCGA-BC-A112-01.png
exon_skip_443977_LIHC_TCGA-BC-A112-01.png
exon_skip_444190_LIHC_TCGA-BC-A112-01.png
exon_skip_44538_LIHC_TCGA-BC-A112-01.png
exon_skip_449944_LIHC_TCGA-BC-A112-01.png
exon_skip_458520_LIHC_TCGA-BC-A112-01.png
exon_skip_460075_LIHC_TCGA-BC-A112-01.png
exon_skip_472635_LIHC_TCGA-BC-A112-01.png
exon_skip_489149_LIHC_TCGA-BC-A112-01.png
exon_skip_492152_LIHC_TCGA-BC-A112-01.png
exon_skip_49506_LIHC_TCGA-BC-A112-01.png
exon_skip_5044_LIHC_TCGA-BC-A112-01.png
exon_skip_512559_LIHC_TCGA-BC-A112-01.png
exon_skip_514460_LIHC_TCGA-BC-A112-01.png
exon_skip_514990_LIHC_TCGA-BC-A112-01.png
exon_skip_55171_LIHC_TCGA-BC-A112-01.png
exon_skip_55175_LIHC_TCGA-BC-A112-01.png
exon_skip_56847_LIHC_TCGA-BC-A112-01.png
exon_skip_57586_LIHC_TCGA-BC-A112-01.png
exon_skip_57892_LIHC_TCGA-BC-A112-01.png
exon_skip_58035_LIHC_TCGA-BC-A112-01.png
exon_skip_6399_LIHC_TCGA-BC-A112-01.png
exon_skip_77132_LIHC_TCGA-BC-A112-01.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
RL952_ENDOMETRIUM	41352184	41352625	41352395	41352395	Frame_Shift_Del	G	-	p.L746fs
A204_SOFT_TISSUE	41346367	41346516	41346455	41346456	Frame_Shift_Ins	-	A	p.AK538fs
CFPAC1_PANCREAS	41346367	41346516	41346455	41346456	Frame_Shift_Ins	-	A	p.AK538fs
CI1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	41346367	41346516	41346455	41346456	Frame_Shift_Ins	-	A	p.AK538fs
DKMG_CENTRAL_NERVOUS_SYSTEM	41346367	41346516	41346455	41346456	Frame_Shift_Ins	-	A	p.AK538fs
HEC151_ENDOMETRIUM	41346367	41346516	41346455	41346456	Frame_Shift_Ins	-	A	p.AK538fs
HMCB_SKIN	41346367	41346516	41346455	41346456	Frame_Shift_Ins	-	A	p.AK538fs
HT1376_URINARY_TRACT	41346367	41346516	41346455	41346456	Frame_Shift_Ins	-	A	p.AK538fs
HUH28_BILIARY_TRACT	41346367	41346516	41346455	41346456	Frame_Shift_Ins	-	A	p.AK538fs
HUH6_LIVER	41346367	41346516	41346455	41346456	Frame_Shift_Ins	-	A	p.AK538fs
KP2_PANCREAS	41346367	41346516	41346455	41346456	Frame_Shift_Ins	-	A	p.AK538fs
KU1919_URINARY_TRACT	41346367	41346516	41346455	41346456	Frame_Shift_Ins	-	A	p.AK538fs
KYSE410_OESOPHAGUS	41346367	41346516	41346455	41346456	Frame_Shift_Ins	-	A	p.AK538fs
ME1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	41346367	41346516	41346455	41346456	Frame_Shift_Ins	-	A	p.AK538fs
MHHCALL3_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	41346367	41346516	41346455	41346456	Frame_Shift_Ins	-	A	p.AK538fs
NALM6_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	41346367	41346516	41346455	41346456	Frame_Shift_Ins	-	A	p.AK538fs
NAMALWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	41346367	41346516	41346455	41346456	Frame_Shift_Ins	-	A	p.AK538fs
NB4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	41346367	41346516	41346455	41346456	Frame_Shift_Ins	-	A	p.AK538fs
NCIH520_LUNG	41346367	41346516	41346455	41346456	Frame_Shift_Ins	-	A	p.AK538fs
NCIH716_LARGE_INTESTINE	41346367	41346516	41346455	41346456	Frame_Shift_Ins	-	A	p.AK538fs
NUDUL1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	41346367	41346516	41346455	41346456	Frame_Shift_Ins	-	A	p.AK538fs
OVKATE_OVARY	41346367	41346516	41346455	41346456	Frame_Shift_Ins	-	A	p.AK538fs
PANC1_PANCREAS	41346367	41346516	41346455	41346456	Frame_Shift_Ins	-	A	p.AK538fs
SET2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	41346367	41346516	41346455	41346456	Frame_Shift_Ins	-	A	p.AK538fs
SH4_SKIN	41346367	41346516	41346455	41346456	Frame_Shift_Ins	-	A	p.AK538fs
SKNO1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	41346367	41346516	41346455	41346456	Frame_Shift_Ins	-	A	p.AK538fs
SLR23_KIDNEY	41346367	41346516	41346455	41346456	Frame_Shift_Ins	-	A	p.AK538fs
SNU398_LIVER	41346367	41346516	41346455	41346456	Frame_Shift_Ins	-	A	p.AK538fs
SNU503_LARGE_INTESTINE	41346367	41346516	41346455	41346456	Frame_Shift_Ins	-	A	p.AK538fs
SNU620_STOMACH	41346367	41346516	41346455	41346456	Frame_Shift_Ins	-	A	p.AK538fs
TOV21G_OVARY	41346367	41346516	41346455	41346456	Frame_Shift_Ins	-	A	p.AK538fs
UBLC1_URINARY_TRACT	41346367	41346516	41346455	41346456	Frame_Shift_Ins	-	A	p.AK538fs
YAPC_PANCREAS	41346367	41346516	41346455	41346456	Frame_Shift_Ins	-	A	p.AK538fs
SKUT1_SOFT_TISSUE	41348959	41349123	41349014	41349016	In_Frame_Del	AGA	-	p.E641del
NCIH841_LUNG	41352184	41352625	41352279	41352293	In_Frame_Del	GAGGAGGATGAGGAG	-	p.EEDEE708del
KCL22_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	41352184	41352625	41352288	41352290	In_Frame_Del	GAG	-	p.E714del
NCIH2228_LUNG	41338267	41338461	41338330	41338330	Missense_Mutation	G	A	p.E91K
HCET_UPPER_AERODIGESTIVE_TRACT	41338267	41338461	41338342	41338342	Missense_Mutation	C	G	p.P95A
NAMALWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	41338267	41338461	41338411	41338411	Missense_Mutation	G	C	p.V118L
ECC10_STOMACH	41342626	41342793	41342658	41342658	Missense_Mutation	G	C	p.C243S
SNU1040_LARGE_INTESTINE	41342626	41342793	41342708	41342708	Missense_Mutation	C	T	p.R260W
SIHA_CERVIX	41342626	41342793	41342765	41342765	Missense_Mutation	C	T	p.R279C
MOLT4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	41343389	41343598	41343565	41343565	Missense_Mutation	G	A	p.R347Q
AGS_STOMACH	41346367	41346516	41346382	41346382	Missense_Mutation	G	T	p.A514S
IGROV1_OVARY	41346367	41346516	41346450	41346450	Missense_Mutation	G	T	p.Q536H
DAUDI_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	41348498	41348608	41348500	41348500	Missense_Mutation	G	A	p.V585M
BICR18_UPPER_AERODIGESTIVE_TRACT	41348498	41348608	41348500	41348500	Missense_Mutation	G	A	p.V585M
M14_SKIN	41348498	41348608	41348537	41348537	Missense_Mutation	C	T	p.P597L
ME180_CERVIX	41348498	41348608	41348569	41348569	Missense_Mutation	G	C	p.E608Q
DAUDI_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	41348498	41348608	41348569	41348569	Missense_Mutation	G	C	p.E608Q
SF767_CENTRAL_NERVOUS_SYSTEM	41348498	41348608	41348569	41348569	Missense_Mutation	G	C	p.E608Q
DAUDI_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	41348498	41348608	41348579	41348579	Missense_Mutation	A	G	p.N611S
HS229T_FIBROBLAST	41348959	41349123	41348966	41348966	Missense_Mutation	G	A	p.M623I
A253_SALIVARY_GLAND	41352184	41352625	41352219	41352219	Missense_Mutation	G	C	p.E688Q
HEC1A_ENDOMETRIUM	41352184	41352625	41352396	41352396	Missense_Mutation	G	T	p.G747W
COLO678_LARGE_INTESTINE	41352184	41352625	41352477	41352477	Missense_Mutation	C	G	p.Q774E
KYSE450_OESOPHAGUS	41352184	41352625	41352484	41352484	Missense_Mutation	C	T	p.P776L
SIHA_CERVIX	41352184	41352625	41352489	41352489	Missense_Mutation	G	A	p.E778K
CROAP2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	41352184	41352625	41352489	41352489	Missense_Mutation	G	A	p.E778K
JURKAT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	41352184	41352625	41352538	41352538	Missense_Mutation	G	A	p.S794N
JSC1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	41352184	41352625	41352546	41352546	Missense_Mutation	G	A	p.D797N
MOLT4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	41352184	41352625	41352546	41352546	Missense_Mutation	G	A	p.D797N
SW156_KIDNEY	41352184	41352625	41352600	41352600	Missense_Mutation	G	A	p.V815M
LOXIMVI_SKIN	41353703	41353797	41353716	41353716	Missense_Mutation	G	A	p.V828I
NCIH650_LUNG	41353703	41353797	41353734	41353734	Missense_Mutation	C	T	p.P834S
NCIH841_LUNG	41354672	41354729	41354719	41354719	Missense_Mutation	G	A	p.D871N
MOLT4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	41355698	41355803	41355748	41355748	Missense_Mutation	C	T	p.S891F
DAUDI_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	41355698	41355803	41355780	41355780	Missense_Mutation	G	T	p.A902S
BICR18_UPPER_AERODIGESTIVE_TRACT	41355698	41355803	41355780	41355780	Missense_Mutation	G	T	p.A902S
HSC4_UPPER_AERODIGESTIVE_TRACT	41342626	41342793	41342748	41342748	Nonsense_Mutation	C	G	p.S273*
SNU175_LARGE_INTESTINE	41348959	41349123	41349060	41349060	Nonsense_Mutation	C	T	p.R655*
RERFLCFM_LUNG	41352184	41352625	41352424	41352424	Nonsense_Mutation	C	G	p.S756*
MOLT4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	41352184	41352625	41352441	41352441	Nonsense_Mutation	C	T	p.R762*
DOV13_OVARY	41352184	41352625	41352477	41352477	Nonsense_Mutation	C	T	p.Q774*
JHUEM7_ENDOMETRIUM	41346367	41346516	41346515	41346515	Splice_Site	A	G	p.Q558R

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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for NBR1

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 NBR1

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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for NBR1

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RelatedDrugs for NBR1

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 NBR1

Diseases associated with this gene.
(DisGeNet 4.0)

Gene

Disease ID

Disease name

# pubmeds

Source

	Gene summary
	Gene structures and expression levels
	Exon skipping events with PSIs in 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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