ExonSkipDB: functional annotation of exon skipping event in human

Gene summary for NBN

Gene summary

Gene information	Gene symbol	NBN
	Gene ID	4683
	Gene name	nibrin
	Synonyms	AT-V1\|AT-V2\|ATV\|NBS\|NBS1\|P95
	Cytomap	8q21.3
	Type of gene	protein-coding
	Description	nibrinNijmegen breakage syndrome 1 (nibrin)cell cycle regulatory protein p95p95 protein of the MRE11/RAD50 complex
	Modification date	20180523
	UniProtAcc	O60934
	Context	PubMed: NBN [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
NBN	GO:0000077	DNA damage checkpoint	12529385
NBN	GO:0006302	double-strand break repair	9590181
NBN	GO:0007093	mitotic cell cycle checkpoint	10766245
NBN	GO:0007095	mitotic G2 DNA damage checkpoint	11438675
NBN	GO:0031954	positive regulation of protein autophosphorylation	15790808
NBN	GO:0033674	positive regulation of kinase activity	15790808

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Exon skipping events across known transcript of Ensembl for NBN 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 NBN

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 NBN

Information of exkip skipping event in TCGA.

Exon skip ID	chr	Exons involved in exon skipping	Skipped exon	ENSG	ENSTs
exon_skip_490726	8	90947659:90947840:90949253:90949303:90955480:90955594	90949253:90949303	ENSG00000104320.9	ENST00000396252.2,ENST00000265433.3,ENST00000409330.1
exon_skip_490731	8	90949253:90949303:90955480:90955594:90958367:90958523	90955480:90955594	ENSG00000104320.9	ENST00000396252.2,ENST00000265433.3,ENST00000409330.1
exon_skip_490739	8	90955586:90955594:90958367:90958523:90960051:90960120	90958367:90958523	ENSG00000104320.9	ENST00000396252.2,ENST00000265433.3,ENST00000409330.1
exon_skip_490745	8	90958367:90958523:90960051:90960120:90965471:90965919	90960051:90960120	ENSG00000104320.9	ENST00000396252.2,ENST00000265433.3,ENST00000409330.1
exon_skip_490748	8	90967510:90967783:90970952:90971082:90976637:90976735	90970952:90971082	ENSG00000104320.9	ENST00000396252.2,ENST00000265433.3,ENST00000409330.1
exon_skip_490751	8	90982747:90982785:90983400:90983518:90990447:90990551	90983400:90983518	ENSG00000104320.9	ENST00000517772.1,ENST00000396252.2,ENST00000265433.3,ENST00000409330.1
exon_skip_490752	8	90983400:90983518:90990447:90990551:90992961:90993080	90990447:90990551	ENSG00000104320.9	ENST00000517772.1,ENST00000396252.2,ENST00000265433.3,ENST00000409330.1
exon_skip_490758	8	90990509:90990551:90992961:90993080:90993602:90993751	90992961:90993080	ENSG00000104320.9	ENST00000523444.1
exon_skip_490759	8	90990509:90990551:90992961:90993121:90993602:90993751	90992961:90993121	ENSG00000104320.9	ENST00000517772.1,ENST00000396252.2,ENST00000265433.3,ENST00000409330.1,ENST00000517337.1
exon_skip_490763	8	90992961:90993121:90993602:90993751:90994180:90994230	90993602:90993751	ENSG00000104320.9	ENST00000396252.2,ENST00000517337.1
exon_skip_490764	8	90992961:90993121:90993602:90993751:90994949:90995083	90993602:90993751	ENSG00000104320.9	ENST00000265433.3,ENST00000409330.1
exon_skip_490769	8	90993602:90993751:90994180:90994230:90994949:90995083	90994180:90994230	ENSG00000104320.9	ENST00000396252.2,ENST00000517337.1,ENST00000523444.1
exon_skip_490771	8	90993602:90993751:90994949:90995083:90996752:90996847	90994949:90995083	ENSG00000104320.9	ENST00000519426.1

PSI values of skipped exons in TCGA.

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Exon skipping events with PSIs in GTEx for NBN

Information of exkip skipping event in GTEx

Exon skip ID	chr	Exons involved in exon skipping	Skipped exon	ENSG	ENSTs
exon_skip_490726	8	90947659:90947840:90949253:90949303:90955480:90955594	90949253:90949303	ENSG00000104320.9	ENST00000265433.3,ENST00000396252.2,ENST00000409330.1
exon_skip_490731	8	90949253:90949303:90955480:90955594:90958367:90958523	90955480:90955594	ENSG00000104320.9	ENST00000265433.3,ENST00000396252.2,ENST00000409330.1
exon_skip_490739	8	90955586:90955594:90958367:90958523:90960051:90960120	90958367:90958523	ENSG00000104320.9	ENST00000265433.3,ENST00000396252.2,ENST00000409330.1
exon_skip_490745	8	90958367:90958523:90960051:90960120:90965471:90965919	90960051:90960120	ENSG00000104320.9	ENST00000265433.3,ENST00000396252.2,ENST00000409330.1
exon_skip_490748	8	90967510:90967783:90970952:90971082:90976637:90976735	90970952:90971082	ENSG00000104320.9	ENST00000265433.3,ENST00000396252.2,ENST00000409330.1
exon_skip_490751	8	90982747:90982785:90983400:90983518:90990447:90990551	90983400:90983518	ENSG00000104320.9	ENST00000265433.3,ENST00000396252.2,ENST00000409330.1,ENST00000517772.1
exon_skip_490752	8	90983400:90983518:90990447:90990551:90992961:90993080	90990447:90990551	ENSG00000104320.9	ENST00000265433.3,ENST00000396252.2,ENST00000409330.1,ENST00000517772.1
exon_skip_490758	8	90990509:90990551:90992961:90993080:90993602:90993751	90992961:90993080	ENSG00000104320.9	ENST00000523444.1
exon_skip_490759	8	90990509:90990551:90992961:90993121:90993602:90993751	90992961:90993121	ENSG00000104320.9	ENST00000265433.3,ENST00000396252.2,ENST00000409330.1,ENST00000517772.1,ENST00000517337.1
exon_skip_490763	8	90992961:90993121:90993602:90993751:90994180:90994230	90993602:90993751	ENSG00000104320.9	ENST00000396252.2,ENST00000517337.1
exon_skip_490764	8	90992961:90993121:90993602:90993751:90994949:90995083	90993602:90993751	ENSG00000104320.9	ENST00000265433.3,ENST00000409330.1
exon_skip_490769	8	90993602:90993751:90994180:90994230:90994949:90995083	90994180:90994230	ENSG00000104320.9	ENST00000396252.2,ENST00000523444.1,ENST00000517337.1
exon_skip_490771	8	90993602:90993751:90994949:90995083:90996752:90996847	90994949:90995083	ENSG00000104320.9	ENST00000519426.1

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 NBN

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
ENST00000265433	90949253	90949303	Frame-shift
ENST00000265433	90970952	90971082	Frame-shift
ENST00000265433	90983400	90983518	Frame-shift
ENST00000265433	90990447	90990551	Frame-shift
ENST00000265433	90992961	90993121	Frame-shift
ENST00000265433	90993602	90993751	Frame-shift
ENST00000265433	90955480	90955594	In-frame
ENST00000265433	90958367	90958523	In-frame
ENST00000265433	90960051	90960120	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
ENST00000265433	90949253	90949303	Frame-shift
ENST00000265433	90970952	90971082	Frame-shift
ENST00000265433	90983400	90983518	Frame-shift
ENST00000265433	90990447	90990551	Frame-shift
ENST00000265433	90992961	90993121	Frame-shift
ENST00000265433	90993602	90993751	Frame-shift
ENST00000265433	90955480	90955594	In-frame
ENST00000265433	90958367	90958523	In-frame
ENST00000265433	90960051	90960120	In-frame

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

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
ENST00000265433	4683	754	90960051	90960120	2001	2069	615	638
ENST00000265433	4683	754	90958367	90958523	2070	2225	638	690
ENST00000265433	4683	754	90955480	90955594	2226	2339	690	728

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
ENST00000265433	4683	754	90960051	90960120	2001	2069	615	638
ENST00000265433	4683	754	90958367	90958523	2070	2225	638	690
ENST00000265433	4683	754	90955480	90955594	2226	2339	690	728

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
O60934	615	638	1	754	Chain	ID=PRO_0000231043;Note=Nibrin
O60934	615	638	615	615	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:10839545;Dbxref=PMID:10839545
O60934	615	638	615	615	Mutagenesis	Note=Abrogates ATM-dependent phosphorylation. S->A;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:10839545;Dbxref=PMID:10839545
O60934	638	690	1	754	Chain	ID=PRO_0000231043;Note=Nibrin
O60934	638	690	673	673	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244\|PubMed:23186163;Dbxref=PMID:23186163
O60934	638	690	679	679	Natural variant	ID=VAR_064738;Note=Found in a renal cell carcinoma sample%3B somatic mutation. Y->H;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:21248752;Dbxref=PMID:21248752
O60934	690	728	1	754	Chain	ID=PRO_0000231043;Note=Nibrin

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
O60934	615	638	1	754	Chain	ID=PRO_0000231043;Note=Nibrin
O60934	615	638	615	615	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:10839545;Dbxref=PMID:10839545
O60934	615	638	615	615	Mutagenesis	Note=Abrogates ATM-dependent phosphorylation. S->A;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:10839545;Dbxref=PMID:10839545
O60934	638	690	1	754	Chain	ID=PRO_0000231043;Note=Nibrin
O60934	638	690	673	673	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244\|PubMed:23186163;Dbxref=PMID:23186163
O60934	638	690	679	679	Natural variant	ID=VAR_064738;Note=Found in a renal cell carcinoma sample%3B somatic mutation. Y->H;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:21248752;Dbxref=PMID:21248752
O60934	690	728	1	754	Chain	ID=PRO_0000231043;Note=Nibrin

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SNVs in the skipped exons for NBN

- 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.

NBN_COAD_exon_skip_490739_psi_boxplot.png
boxplot

NBN_KIRC_exon_skip_490731_psi_boxplot.png
boxplot

NBN_LIHC_exon_skip_490739_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
ESCA	TCGA-JY-A93F-01	exon_skip_490726	90949254	90949303	90949256	90949256	Frame_Shift_Del	A	-	p.F744fs
LIHC	TCGA-DD-A1EG-01	exon_skip_490739	90958368	90958523	90958387	90958387	Frame_Shift_Del	T	-	p.N684fs
LIHC	TCGA-G3-A3CJ-01	exon_skip_490739	90958368	90958523	90958387	90958387	Frame_Shift_Del	T	-	p.N684fs
STAD	TCGA-CD-8536-01	exon_skip_490739	90958368	90958523	90958480	90958480	Frame_Shift_Del	T	-	p.K653fs
LIHC	TCGA-DD-A39Y-01	exon_skip_490751	90983401	90983518	90983414	90983414	Frame_Shift_Del	A	-	p.L230fs
LIHC	TCGA-DD-A1EG-01	exon_skip_490751	90983401	90983518	90983427	90983427	Frame_Shift_Del	T	-	p.T226fs
LIHC	TCGA-DD-A1EG-01	exon_skip_490751	90983401	90983518	90983477	90983477	Frame_Shift_Del	T	-	p.N209fs
LIHC	TCGA-DD-A3A0-01	exon_skip_490751	90983401	90983518	90983477	90983477	Frame_Shift_Del	T	-	p.N209fs
LIHC	TCGA-DD-A39Y-01	exon_skip_490763 exon_skip_490764	90993603	90993751	90993626	90993626	Frame_Shift_Del	A	-	p.F99fs
LIHC	TCGA-DD-A1EG-01	exon_skip_490763 exon_skip_490764	90993603	90993751	90993640	90993640	Frame_Shift_Del	C	-	p.D95fs
STAD	TCGA-HF-7132-01	exon_skip_490763 exon_skip_490764	90993603	90993751	90993676	90993676	Frame_Shift_Del	T	-	p.M83fs
LIHC	TCGA-DD-A1EG-01	exon_skip_490771	90994950	90995083	90995032	90995032	Frame_Shift_Del	T	-	p.N30fs
LIHC	TCGA-G3-A3CJ-01	exon_skip_490771	90994950	90995083	90995037	90995037	Frame_Shift_Del	C	-	p.R28fs
COAD	TCGA-CM-6162-01	exon_skip_490739	90958368	90958523	90958479	90958480	Frame_Shift_Ins	-	T	p.K653fs
PRAD	TCGA-XK-AAJR-01	exon_skip_490731	90955481	90955594	90955507	90955507	Nonsense_Mutation	C	A	p.E720*
READ	TCGA-DY-A1H8-01	exon_skip_490739	90958368	90958523	90958456	90958456	Nonsense_Mutation	G	T	p.S661X
UCEC	TCGA-AX-A0J0-01	exon_skip_490745	90960052	90960120	90960060	90960060	Nonsense_Mutation	C	A	p.E636*
KIRC	TCGA-A3-3372-01	exon_skip_490731	90955481	90955594	90955480	90955481	Splice_Site	CC	-	.
KIRC	TCGA-A3-3372-01	exon_skip_490731	90955481	90955594	90955480	90955481	Splice_Site	CC	-	p.EV728_splice

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

Depth of coverage in three exons	Mutation description
	Sample: TCGA-CM-6162-01
	Cancer type: COAD
	ESID: exon_skip_490739
	Skipped exon start: 90958368
	Skipped exon end: 90958523
	Mutation start: 90958479
	Mutation end: 90958480
	Mutation type: Frame_Shift_Ins
	Reference seq: -
	Mutation seq: T
	AAchange: p.K653fs
exon_skip_140168_COAD_TCGA-CM-6162-01.png
exon_skip_383994_COAD_TCGA-CM-6162-01.png
exon_skip_490739_COAD_TCGA-CM-6162-01.png
	Sample: TCGA-A3-3372-01
	Cancer type: KIRC
	ESID: exon_skip_490731
	Skipped exon start: 90955481
	Skipped exon end: 90955594
	Mutation start: 90955480
	Mutation end: 90955481
	Mutation type: Splice_Site
	Reference seq: CC
	Mutation seq: -
	AAchange: .
	Sample: TCGA-A3-3372-01
	Cancer type: KIRC
	ESID: exon_skip_490731
	Skipped exon start: 90955481
	Skipped exon end: 90955594
	Mutation start: 90955480
	Mutation end: 90955481
	Mutation type: Splice_Site
	Reference seq: CC
	Mutation seq: -
	AAchange: p.EV728_splice
exon_skip_10881_KIRC_TCGA-A3-3372-01.png
exon_skip_335781_KIRC_TCGA-A3-3372-01.png
exon_skip_347690_KIRC_TCGA-A3-3372-01.png
exon_skip_490731_KIRC_TCGA-A3-3372-01.png
exon_skip_71341_KIRC_TCGA-A3-3372-01.png
exon_skip_93534_KIRC_TCGA-A3-3372-01.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
HEC59_ENDOMETRIUM	90993603	90993751	90993676	90993676	Frame_Shift_Del	T	-	p.M83fs
PACADD137_PANCREAS	90958368	90958523	90958479	90958480	Frame_Shift_Ins	-	T	p.K653fs
SNU601_STOMACH	90993603	90993751	90993675	90993676	Frame_Shift_Ins	-	T	p.M83fs
YT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	90955481	90955594	90955516	90955516	Missense_Mutation	T	C	p.T717A
HCT15_LARGE_INTESTINE	90955481	90955594	90955537	90955537	Missense_Mutation	C	A	p.A710S
HRT18_LARGE_INTESTINE	90955481	90955594	90955537	90955537	Missense_Mutation	C	A	p.A710S
MV411_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	90958368	90958523	90958370	90958370	Missense_Mutation	T	G	p.K690Q
NCIH446_LUNG	90958368	90958523	90958423	90958423	Missense_Mutation	G	T	p.P672Q
SW1116_LARGE_INTESTINE	90958368	90958523	90958439	90958439	Missense_Mutation	A	G	p.S667P
NCIH650_LUNG	90970953	90971082	90971011	90971011	Missense_Mutation	C	T	p.A356T
SW1271_LUNG	90970953	90971082	90971028	90971028	Missense_Mutation	T	C	p.E350G
NCIH460_LUNG	90983401	90983518	90983432	90983432	Missense_Mutation	C	G	p.G224A
NCIH1437_LUNG	90983401	90983518	90983459	90983459	Missense_Mutation	C	T	p.R215Q
NCIBL1437_MATCHED_NORMAL_TISSUE	90983401	90983518	90983459	90983459	Missense_Mutation	C	T	p.R215Q
CP67MEL_SKIN	90983401	90983518	90983486	90983486	Missense_Mutation	C	T	p.G206E
CROAP2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	90983401	90983518	90983502	90983502	Missense_Mutation	C	G	p.D201H
SF539_CENTRAL_NERVOUS_SYSTEM	90983401	90983518	90983508	90983508	Missense_Mutation	G	A	p.P199S
NCIH23_LUNG	90992962	90993080	90992985	90992985	Missense_Mutation	C	T	p.V153I
NCIH23_LUNG	90992962	90993121	90992985	90992985	Missense_Mutation	C	T	p.V153I
SNU475_LIVER	90992962	90993080	90993039	90993039	Missense_Mutation	G	C	p.L135V
SNU475_LIVER	90992962	90993121	90993039	90993039	Missense_Mutation	G	C	p.L135V
CESS_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	90993603	90993751	90993744	90993744	Missense_Mutation	G	T	p.T60K
22RV1_PROSTATE	90994950	90995083	90994993	90994993	Missense_Mutation	C	T	p.R43Q
LI7_LIVER	90949254	90949303	90949282	90949282	Nonsense_Mutation	C	A	p.E736*
LP1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	90960052	90960120	90960070	90960070	Nonsense_Mutation	C	T	p.W632*
NCIH1373_LUNG	90983401	90983518	90983487	90983487	Nonsense_Mutation	C	A	p.G206*

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

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
exon_skip_490771	8	90993602:90993751:90994949:90995083:90996752:90996847	90994949:90995083	ENST00000519426.1	BRCA	rs1063045	chr8:90995019	C/T	1.98e-16
exon_skip_490771	8	90993602:90993751:90994949:90995083:90996752:90996847	90994949:90995083	ENST00000519426.1	LGG	rs1063045	chr8:90995019	C/T	1.83e-16
exon_skip_490771	8	90993602:90993751:90994949:90995083:90996752:90996847	90994949:90995083	ENST00000519426.1	KIRC	rs1063045	chr8:90995019	C/T	1.36e-11
exon_skip_490771	8	90993602:90993751:90994949:90995083:90996752:90996847	90994949:90995083	ENST00000519426.1	LUAD	rs1063045	chr8:90995019	C/T	9.88e-06
exon_skip_490771	8	90993602:90993751:90994949:90995083:90996752:90996847	90994949:90995083	ENST00000519426.1	LUSC	rs1063045	chr8:90995019	C/T	5.23e-09
exon_skip_490771	8	90993602:90993751:90994949:90995083:90996752:90996847	90994949:90995083	ENST00000519426.1	STAD	rs1063045	chr8:90995019	C/T	1.57e-06
exon_skip_490739	8	90955586:90955594:90958367:90958523:90960051:90960120	90958367:90958523	ENST00000396252.2,ENST00000265433.3,ENST00000409330.1	BRCA	rs1061302	chr8:90958422	T/C	5.21e-18
exon_skip_490739	8	90955586:90955594:90958367:90958523:90960051:90960120	90958367:90958523	ENST00000396252.2,ENST00000265433.3,ENST00000409330.1	LGG	rs1061302	chr8:90958422	T/C	2.26e-16
exon_skip_490739	8	90955586:90955594:90958367:90958523:90960051:90960120	90958367:90958523	ENST00000396252.2,ENST00000265433.3,ENST00000409330.1	KIRC	rs1061302	chr8:90958422	T/C	1.73e-10
exon_skip_490739	8	90955586:90955594:90958367:90958523:90960051:90960120	90958367:90958523	ENST00000396252.2,ENST00000265433.3,ENST00000409330.1	LUAD	rs1061302	chr8:90958422	T/C	7.55e-06
exon_skip_490739	8	90955586:90955594:90958367:90958523:90960051:90960120	90958367:90958523	ENST00000396252.2,ENST00000265433.3,ENST00000409330.1	LUSC	rs1061302	chr8:90958422	T/C	2.25e-09
exon_skip_490739	8	90955586:90955594:90958367:90958523:90960051:90960120	90958367:90958523	ENST00000396252.2,ENST00000265433.3,ENST00000409330.1	STAD	rs1061302	chr8:90958422	T/C	2.11e-06
exon_skip_490752	8	90983400:90983518:90990447:90990551:90992961:90993080	90990447:90990551	ENST00000517772.1,ENST00000396252.2,ENST00000265433.3,ENST00000409330.1	BRCA	rs1805794	chr8:90990479	C/G	6.13e-18
exon_skip_490752	8	90983400:90983518:90990447:90990551:90992961:90993080	90990447:90990551	ENST00000517772.1,ENST00000396252.2,ENST00000265433.3,ENST00000409330.1	LGG	rs1805794	chr8:90990479	C/G	2.75e-16
exon_skip_490752	8	90983400:90983518:90990447:90990551:90992961:90993080	90990447:90990551	ENST00000517772.1,ENST00000396252.2,ENST00000265433.3,ENST00000409330.1	KIRC	rs1805794	chr8:90990479	C/G	5.01e-11
exon_skip_490752	8	90983400:90983518:90990447:90990551:90992961:90993080	90990447:90990551	ENST00000517772.1,ENST00000396252.2,ENST00000265433.3,ENST00000409330.1	LUAD	rs1805794	chr8:90990479	C/G	3.30e-05
exon_skip_490752	8	90983400:90983518:90990447:90990551:90992961:90993080	90990447:90990551	ENST00000517772.1,ENST00000396252.2,ENST00000265433.3,ENST00000409330.1	LUSC	rs1805794	chr8:90990479	C/G	5.63e-10
exon_skip_490752	8	90983400:90983518:90990447:90990551:90992961:90993080	90990447:90990551	ENST00000517772.1,ENST00000396252.2,ENST00000265433.3,ENST00000409330.1	STAD	rs1805794	chr8:90990479	C/G	4.90e-06

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

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

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RelatedDrugs for NBN

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 NBN

Diseases associated with this gene.
(DisGeNet 4.0)

Gene	Disease ID	Disease name	# pubmeds	Source
NBN	C0398791	Nijmegen Breakage Syndrome	3	CTD_human;ORPHANET
NBN	C0033578	Prostatic Neoplasms	2	CTD_human
NBN	C0006142	Malignant neoplasm of breast	1	UNIPROT
NBN	C0027643	Neoplasm Recurrence, Local	1	CTD_human
NBN	C0038362	Stomatitis	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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