ExonSkipAD: functional annotation of exon skipping event in human

Gene summary for NLRC5

Gene summary

Gene information	Gene symbol	NLRC5
	Gene ID	84166
	Gene name	NLR family CARD domain containing 5
	Synonyms	CLR16.1\|NOD27\|NOD4
	Cytomap	16q13
	Type of gene	protein-coding
	Description	protein NLRC5NOD-like receptor C5caterpiller protein 16.1nucleotide-binding oligomerization domain protein 4nucleotide-binding oligomerization domain, leucine rich repeat and CARD domain containing 5nucleotide-binding oligomerization domains 27
	Modification date	20200313
	UniProtAcc	F5GYP0, F5H274, H0YF88, H0YFG4, H0YFT1, H0YFT3, H0YG32, H0YGE2, H0YGM1, H0YGT6, H0YGV6, Q86WI3,
	Context

Gene ontology of each this gene with evidence of Inferred from Direct Assay (IDA) from Entrez

Gene	GO ID	GO term	PubMed ID
NLRC5	GO:0032088	negative regulation of NF-kappaB transcription factor activity	20434986
NLRC5	GO:0043549	regulation of kinase activity	20434986
NLRC5	GO:0045345	positive regulation of MHC class I biosynthetic process	20639463
NLRC5	GO:0045944	positive regulation of transcription by RNA polymerase II	20639463
NLRC5	GO:0060335	positive regulation of interferon-gamma-mediated signaling pathway	20061403
NLRC5	GO:0060339	negative regulation of type I interferon-mediated signaling pathway	20434986
NLRC5	GO:0060340	positive regulation of type I interferon-mediated signaling pathway	20061403

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Gene structures and expression levels for NLRC5

Skipped exons in the ROSMAP, MSBB, and Mayo 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.

ENSG00000140853

Differentially expressed gene analysis across multiple brain tissues between AD and control.

Tissue type

DEG direction

Base mean exp.

log2FC(AD/control)

P-value

Adj. p-value

Differentially expressed isoform analysis across multiple brain tissues between AD and control.

Tissue type	DEG direction	ENST	Transcript info.	Base mean exp.	log2FC(AD/control)	P-value	Adjc. p-value
PG	UP	ENST00000539881.5	NLRC5-218:nonsense_mediated_decay:NLRC5	9.378363e+00	1.063386e+00	2.497313e-05	9.858718e-04
PG	UP	ENST00000543141.5	NLRC5-224:lncRNA:NLRC5	2.343656e+00	9.647020e-01	3.201656e-05	1.181182e-03
PG	UP	ENST00000536231.1	NLRC5-208:retained_intron:NLRC5	3.679278e+00	1.176056e+00	1.011299e-04	2.773176e-03
PG	UP	ENST00000538930.5	NLRC5-216:retained_intron:NLRC5	3.051440e+00	1.007931e+00	9.193352e-04	1.369990e-02
PG	UP	ENST00000543103.1	NLRC5-223:retained_intron:NLRC5	6.076523e+00	8.236435e-01	1.239535e-03	1.704556e-02
PG	UP	ENST00000534931.1	NLRC5-205:retained_intron:NLRC5	1.043638e+00	1.318021e+00	1.999519e-03	2.386575e-02
CB	UP	ENST00000538778.5	NLRC5-214:retained_intron:NLRC5	7.909709e-01	1.439183e+00	1.380135e-03	6.770849e-03

Landscape of isoform expressions across multiple brain tissues between AD and control.

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Exon skipping events with PSIs in ROSMAP, MSBB, and Mayo for NLRC5

Landscape of individual exon skipping event across AD tissues and controls (PSI heatmap).

All exon skipping events in AD cohorts.

Exon skip ID	chr	Exons involved in exon skipping	Skipped exon
exon_skip_120039	chr16	57041488:57041574:57041982:57042065:57043515:57043604	57041982:57042065
exon_skip_13958	chr16	57074600:57074683:57076819:57076902:57077296:57077369	57076819:57076902
exon_skip_170946	chr16	57061618:57061701:57062159:57062173:57065212:57065298	57062159:57062173
exon_skip_191683	chr16	57055032:57055094:57055433:57055519:57058065:57058148	57055433:57055519
exon_skip_230883	chr16	57041321:57041574:57041982:57042065:57043515:57043604	57041982:57042065
exon_skip_248595	chr16	57055032:57055094:57058065:57058148:57058972:57059061	57058065:57058148
exon_skip_27024	chr16	57055032:57055094:57055436:57055519:57058972:57059061	57055436:57055519
exon_skip_280071	chr16	57061628:57061701:57062159:57062173:57065212:57065298	57062159:57062173
exon_skip_287517	chr16	56989563:56989595:57017074:57017188:57020701:57020769	57017074:57017188
exon_skip_76601	chr16	57055032:57055094:57055436:57055519:57058065:57058148	57055436:57055519
exon_skip_85764	chr16	57074600:57074683:57075941:57076056:57076819:57076851	57075941:57076056
exon_skip_86311	chr16	57045448:57045492:57046552:57046641:57047545:57047628	57046552:57046641
exon_skip_88544	chr16	57055436:57055519:57058065:57058148:57058972:57059061	57058065:57058148
exon_skip_93168	chr16	57077296:57077379:57077719:57077802:57077943:57078020	57077719:57077802

Differentially expressed PSI values of individual exon skipping events in multiple brain tissues between AD and control.

Exon skipping information

Tissue type

Avg(PSIs) in AD

Avg(PSIs) in control

Difference (PSI)

Adj. p-value

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Open reading frame (ORF) annotation in the exon skipping event for NLRC5

Open reading frame (ORF) of individual exon skipping events in ROSMAP based on the Ensembl gene structure combined from isoforms.

ENST	Start of skipped exon	End of skipped exon	ORF
ENST00000262510	57017074	57017188	5UTR-5UTR
ENST00000262510	57041982	57042065	In-frame
ENST00000436936	57041982	57042065	In-frame
ENST00000262510	57046552	57046641	In-frame
ENST00000436936	57046552	57046641	In-frame
ENST00000262510	57055433	57055519	In-frame
ENST00000436936	57055433	57055519	In-frame
ENST00000262510	57058065	57058148	In-frame
ENST00000436936	57058065	57058148	In-frame
ENST00000262510	57076819	57076902	In-frame
ENST00000436936	57076819	57076902	In-frame
ENST00000262510	57077719	57077802	In-frame
ENST00000436936	57077719	57077802	In-frame

Open reading frame (ORF) of individual exon skipping events in MSBB based on the Ensembl gene structure combined from isoforms.

ENST	Start of skipped exon	End of skipped exon	ORF
ENST00000262510	57046552	57046641	In-frame
ENST00000436936	57046552	57046641	In-frame
ENST00000262510	57055433	57055519	In-frame
ENST00000436936	57055433	57055519	In-frame
ENST00000262510	57058065	57058148	In-frame
ENST00000436936	57058065	57058148	In-frame
ENST00000262510	57076819	57076902	In-frame
ENST00000436936	57076819	57076902	In-frame

Open reading frame (ORF) of individual exon skipping events in Mayo based on the Ensembl gene structure combined from isoforms.

ENST	Start of skipped exon	End of skipped exon	ORF
ENST00000262510	57017074	57017188	5UTR-5UTR
ENST00000262510	57041982	57042065	In-frame
ENST00000436936	57041982	57042065	In-frame
ENST00000262510	57046552	57046641	In-frame
ENST00000436936	57046552	57046641	In-frame
ENST00000262510	57055433	57055519	In-frame
ENST00000436936	57055433	57055519	In-frame
ENST00000262510	57058065	57058148	In-frame
ENST00000436936	57058065	57058148	In-frame
ENST00000262510	57076819	57076902	In-frame
ENST00000436936	57076819	57076902	In-frame

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Infer the effects of exon skipping event on protein functional features for NLRC5

p-ENSG00000140853_img4.png
boxplot

Loci of skipped exons in ROSMAP 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
ENST00000262510	6839	1866	57041982	57042065	3256	3338	1010	1037
ENST00000436936	6741	1866	57041982	57042065	3158	3240	1010	1037
ENST00000262510	6839	1866	57046552	57046641	3475	3563	1083	1112
ENST00000436936	6741	1866	57046552	57046641	3377	3465	1083	1112
ENST00000262510	6839	1866	57055433	57055519	3886	3971	1220	1248
ENST00000436936	6741	1866	57055433	57055519	3788	3873	1220	1248
ENST00000262510	6839	1866	57058065	57058148	3973	4055	1249	1276
ENST00000436936	6741	1866	57058065	57058148	3875	3957	1249	1276
ENST00000262510	6839	1866	57076819	57076902	4978	5060	1584	1611
ENST00000436936	6741	1866	57076819	57076902	4880	4962	1584	1611
ENST00000262510	6839	1866	57077719	57077802	5146	5228	1640	1667
ENST00000436936	6741	1866	57077719	57077802	5048	5130	1640	1667

Loci of skipped exons in MSBB 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
ENST00000262510	6839	1866	57046552	57046641	3475	3563	1083	1112
ENST00000436936	6741	1866	57046552	57046641	3377	3465	1083	1112
ENST00000262510	6839	1866	57055433	57055519	3886	3971	1220	1248
ENST00000436936	6741	1866	57055433	57055519	3788	3873	1220	1248
ENST00000262510	6839	1866	57058065	57058148	3973	4055	1249	1276
ENST00000436936	6741	1866	57058065	57058148	3875	3957	1249	1276
ENST00000262510	6839	1866	57076819	57076902	4978	5060	1584	1611
ENST00000436936	6741	1866	57076819	57076902	4880	4962	1584	1611

Loci of skipped exons in Mayo 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
ENST00000262510	6839	1866	57041982	57042065	3256	3338	1010	1037
ENST00000436936	6741	1866	57041982	57042065	3158	3240	1010	1037
ENST00000262510	6839	1866	57046552	57046641	3475	3563	1083	1112
ENST00000436936	6741	1866	57046552	57046641	3377	3465	1083	1112
ENST00000262510	6839	1866	57055433	57055519	3886	3971	1220	1248
ENST00000436936	6741	1866	57055433	57055519	3788	3873	1220	1248
ENST00000262510	6839	1866	57058065	57058148	3973	4055	1249	1276
ENST00000436936	6741	1866	57058065	57058148	3875	3957	1249	1276
ENST00000262510	6839	1866	57076819	57076902	4978	5060	1584	1611
ENST00000436936	6741	1866	57076819	57076902	4880	4962	1584	1611

Lost protein functional features of individual exon skipping events in ROSMAP.

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
Q86WI3	1010	1037	721	1866	Alternative sequence	ID=VSP_027150;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|Ref.3
Q86WI3	1010	1037	721	1866	Alternative sequence	ID=VSP_027150;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|Ref.3
Q86WI3	1010	1037	1	1866	Chain	ID=PRO_0000296189;Note=Protein NLRC5
Q86WI3	1010	1037	1	1866	Chain	ID=PRO_0000296189;Note=Protein NLRC5
Q86WI3	1010	1037	1004	1026	Repeat	Note=LRR 9
Q86WI3	1010	1037	1004	1026	Repeat	Note=LRR 9
Q86WI3	1010	1037	1031	1058	Repeat	Note=LRR 10
Q86WI3	1010	1037	1031	1058	Repeat	Note=LRR 10
Q86WI3	1083	1112	721	1866	Alternative sequence	ID=VSP_027150;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|Ref.3
Q86WI3	1083	1112	721	1866	Alternative sequence	ID=VSP_027150;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|Ref.3
Q86WI3	1083	1112	1	1866	Chain	ID=PRO_0000296189;Note=Protein NLRC5
Q86WI3	1083	1112	1	1866	Chain	ID=PRO_0000296189;Note=Protein NLRC5
Q86WI3	1083	1112	1105	1105	Natural variant	ID=VAR_034611;Note=Q->K;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269\|PubMed:15489334,ECO:0000269\|Ref.3;Dbxref=dbSNP:rs289723,PMID:15489334
Q86WI3	1083	1112	1105	1105	Natural variant	ID=VAR_034611;Note=Q->K;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269\|PubMed:15489334,ECO:0000269\|Ref.3;Dbxref=dbSNP:rs289723,PMID:15489334
Q86WI3	1220	1248	721	1866	Alternative sequence	ID=VSP_027150;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|Ref.3
Q86WI3	1220	1248	721	1866	Alternative sequence	ID=VSP_027150;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|Ref.3
Q86WI3	1220	1248	1221	1249	Alternative sequence	ID=VSP_027151;Note=In isoform 4 and isoform 5. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303\|PubMed:14702039,ECO:0000303\|PubMed:15489334;Dbxref=PMID:14702039,PMID:15489334
Q86WI3	1220	1248	1221	1249	Alternative sequence	ID=VSP_027151;Note=In isoform 4 and isoform 5. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303\|PubMed:14702039,ECO:0000303\|PubMed:15489334;Dbxref=PMID:14702039,PMID:15489334
Q86WI3	1220	1248	1	1866	Chain	ID=PRO_0000296189;Note=Protein NLRC5
Q86WI3	1220	1248	1	1866	Chain	ID=PRO_0000296189;Note=Protein NLRC5
Q86WI3	1220	1248	1242	1265	Repeat	Note=LRR 13
Q86WI3	1220	1248	1242	1265	Repeat	Note=LRR 13
Q86WI3	1249	1276	721	1866	Alternative sequence	ID=VSP_027150;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|Ref.3
Q86WI3	1249	1276	721	1866	Alternative sequence	ID=VSP_027150;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|Ref.3
Q86WI3	1249	1276	1221	1249	Alternative sequence	ID=VSP_027151;Note=In isoform 4 and isoform 5. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303\|PubMed:14702039,ECO:0000303\|PubMed:15489334;Dbxref=PMID:14702039,PMID:15489334
Q86WI3	1249	1276	1221	1249	Alternative sequence	ID=VSP_027151;Note=In isoform 4 and isoform 5. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303\|PubMed:14702039,ECO:0000303\|PubMed:15489334;Dbxref=PMID:14702039,PMID:15489334
Q86WI3	1249	1276	1	1866	Chain	ID=PRO_0000296189;Note=Protein NLRC5
Q86WI3	1249	1276	1	1866	Chain	ID=PRO_0000296189;Note=Protein NLRC5
Q86WI3	1249	1276	1242	1265	Repeat	Note=LRR 13
Q86WI3	1249	1276	1242	1265	Repeat	Note=LRR 13
Q86WI3	1249	1276	1272	1294	Repeat	Note=LRR 14
Q86WI3	1249	1276	1272	1294	Repeat	Note=LRR 14
Q86WI3	1584	1611	721	1866	Alternative sequence	ID=VSP_027150;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|Ref.3
Q86WI3	1584	1611	721	1866	Alternative sequence	ID=VSP_027150;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|Ref.3
Q86WI3	1584	1611	1329	1866	Alternative sequence	ID=VSP_027153;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:12693554;Dbxref=PMID:12693554
Q86WI3	1584	1611	1329	1866	Alternative sequence	ID=VSP_027153;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:12693554;Dbxref=PMID:12693554
Q86WI3	1584	1611	1386	1866	Alternative sequence	ID=VSP_027155;Note=In isoform 5. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:15489334;Dbxref=PMID:15489334
Q86WI3	1584	1611	1386	1866	Alternative sequence	ID=VSP_027155;Note=In isoform 5. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:15489334;Dbxref=PMID:15489334
Q86WI3	1584	1611	1552	1866	Alternative sequence	ID=VSP_027157;Note=In isoform 6. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|Ref.3
Q86WI3	1584	1611	1552	1866	Alternative sequence	ID=VSP_027157;Note=In isoform 6. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|Ref.3
Q86WI3	1584	1611	1	1866	Chain	ID=PRO_0000296189;Note=Protein NLRC5
Q86WI3	1584	1611	1	1866	Chain	ID=PRO_0000296189;Note=Protein NLRC5
Q86WI3	1584	1611	1578	1600	Repeat	Note=LRR 19
Q86WI3	1584	1611	1578	1600	Repeat	Note=LRR 19
Q86WI3	1584	1611	1605	1628	Repeat	Note=LRR 20
Q86WI3	1584	1611	1605	1628	Repeat	Note=LRR 20
Q86WI3	1640	1667	721	1866	Alternative sequence	ID=VSP_027150;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|Ref.3
Q86WI3	1640	1667	721	1866	Alternative sequence	ID=VSP_027150;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|Ref.3
Q86WI3	1640	1667	1329	1866	Alternative sequence	ID=VSP_027153;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:12693554;Dbxref=PMID:12693554
Q86WI3	1640	1667	1329	1866	Alternative sequence	ID=VSP_027153;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:12693554;Dbxref=PMID:12693554
Q86WI3	1640	1667	1386	1866	Alternative sequence	ID=VSP_027155;Note=In isoform 5. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:15489334;Dbxref=PMID:15489334
Q86WI3	1640	1667	1386	1866	Alternative sequence	ID=VSP_027155;Note=In isoform 5. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:15489334;Dbxref=PMID:15489334
Q86WI3	1640	1667	1552	1866	Alternative sequence	ID=VSP_027157;Note=In isoform 6. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|Ref.3
Q86WI3	1640	1667	1552	1866	Alternative sequence	ID=VSP_027157;Note=In isoform 6. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|Ref.3
Q86WI3	1640	1667	1	1866	Chain	ID=PRO_0000296189;Note=Protein NLRC5
Q86WI3	1640	1667	1	1866	Chain	ID=PRO_0000296189;Note=Protein NLRC5
Q86WI3	1640	1667	1633	1656	Repeat	Note=LRR 21
Q86WI3	1640	1667	1633	1656	Repeat	Note=LRR 21
Q86WI3	1640	1667	1661	1684	Repeat	Note=LRR 22
Q86WI3	1640	1667	1661	1684	Repeat	Note=LRR 22

Lost protein functional features of individual exon skipping events in MSBB.

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
Q86WI3	1083	1112	721	1866	Alternative sequence	ID=VSP_027150;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|Ref.3
Q86WI3	1083	1112	721	1866	Alternative sequence	ID=VSP_027150;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|Ref.3
Q86WI3	1083	1112	1	1866	Chain	ID=PRO_0000296189;Note=Protein NLRC5
Q86WI3	1083	1112	1	1866	Chain	ID=PRO_0000296189;Note=Protein NLRC5
Q86WI3	1083	1112	1105	1105	Natural variant	ID=VAR_034611;Note=Q->K;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269\|PubMed:15489334,ECO:0000269\|Ref.3;Dbxref=dbSNP:rs289723,PMID:15489334
Q86WI3	1083	1112	1105	1105	Natural variant	ID=VAR_034611;Note=Q->K;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269\|PubMed:15489334,ECO:0000269\|Ref.3;Dbxref=dbSNP:rs289723,PMID:15489334
Q86WI3	1220	1248	721	1866	Alternative sequence	ID=VSP_027150;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|Ref.3
Q86WI3	1220	1248	721	1866	Alternative sequence	ID=VSP_027150;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|Ref.3
Q86WI3	1220	1248	1221	1249	Alternative sequence	ID=VSP_027151;Note=In isoform 4 and isoform 5. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303\|PubMed:14702039,ECO:0000303\|PubMed:15489334;Dbxref=PMID:14702039,PMID:15489334
Q86WI3	1220	1248	1221	1249	Alternative sequence	ID=VSP_027151;Note=In isoform 4 and isoform 5. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303\|PubMed:14702039,ECO:0000303\|PubMed:15489334;Dbxref=PMID:14702039,PMID:15489334
Q86WI3	1220	1248	1	1866	Chain	ID=PRO_0000296189;Note=Protein NLRC5
Q86WI3	1220	1248	1	1866	Chain	ID=PRO_0000296189;Note=Protein NLRC5
Q86WI3	1220	1248	1242	1265	Repeat	Note=LRR 13
Q86WI3	1220	1248	1242	1265	Repeat	Note=LRR 13
Q86WI3	1249	1276	721	1866	Alternative sequence	ID=VSP_027150;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|Ref.3
Q86WI3	1249	1276	721	1866	Alternative sequence	ID=VSP_027150;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|Ref.3
Q86WI3	1249	1276	1221	1249	Alternative sequence	ID=VSP_027151;Note=In isoform 4 and isoform 5. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303\|PubMed:14702039,ECO:0000303\|PubMed:15489334;Dbxref=PMID:14702039,PMID:15489334
Q86WI3	1249	1276	1221	1249	Alternative sequence	ID=VSP_027151;Note=In isoform 4 and isoform 5. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303\|PubMed:14702039,ECO:0000303\|PubMed:15489334;Dbxref=PMID:14702039,PMID:15489334
Q86WI3	1249	1276	1	1866	Chain	ID=PRO_0000296189;Note=Protein NLRC5
Q86WI3	1249	1276	1	1866	Chain	ID=PRO_0000296189;Note=Protein NLRC5
Q86WI3	1249	1276	1242	1265	Repeat	Note=LRR 13
Q86WI3	1249	1276	1242	1265	Repeat	Note=LRR 13
Q86WI3	1249	1276	1272	1294	Repeat	Note=LRR 14
Q86WI3	1249	1276	1272	1294	Repeat	Note=LRR 14
Q86WI3	1584	1611	721	1866	Alternative sequence	ID=VSP_027150;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|Ref.3
Q86WI3	1584	1611	721	1866	Alternative sequence	ID=VSP_027150;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|Ref.3
Q86WI3	1584	1611	1329	1866	Alternative sequence	ID=VSP_027153;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:12693554;Dbxref=PMID:12693554
Q86WI3	1584	1611	1329	1866	Alternative sequence	ID=VSP_027153;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:12693554;Dbxref=PMID:12693554
Q86WI3	1584	1611	1386	1866	Alternative sequence	ID=VSP_027155;Note=In isoform 5. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:15489334;Dbxref=PMID:15489334
Q86WI3	1584	1611	1386	1866	Alternative sequence	ID=VSP_027155;Note=In isoform 5. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:15489334;Dbxref=PMID:15489334
Q86WI3	1584	1611	1552	1866	Alternative sequence	ID=VSP_027157;Note=In isoform 6. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|Ref.3
Q86WI3	1584	1611	1552	1866	Alternative sequence	ID=VSP_027157;Note=In isoform 6. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|Ref.3
Q86WI3	1584	1611	1	1866	Chain	ID=PRO_0000296189;Note=Protein NLRC5
Q86WI3	1584	1611	1	1866	Chain	ID=PRO_0000296189;Note=Protein NLRC5
Q86WI3	1584	1611	1578	1600	Repeat	Note=LRR 19
Q86WI3	1584	1611	1578	1600	Repeat	Note=LRR 19
Q86WI3	1584	1611	1605	1628	Repeat	Note=LRR 20
Q86WI3	1584	1611	1605	1628	Repeat	Note=LRR 20

Lost protein functional features of individual exon skipping events in Mayo.

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
Q86WI3	1010	1037	721	1866	Alternative sequence	ID=VSP_027150;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|Ref.3
Q86WI3	1010	1037	721	1866	Alternative sequence	ID=VSP_027150;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|Ref.3
Q86WI3	1010	1037	1	1866	Chain	ID=PRO_0000296189;Note=Protein NLRC5
Q86WI3	1010	1037	1	1866	Chain	ID=PRO_0000296189;Note=Protein NLRC5
Q86WI3	1010	1037	1004	1026	Repeat	Note=LRR 9
Q86WI3	1010	1037	1004	1026	Repeat	Note=LRR 9
Q86WI3	1010	1037	1031	1058	Repeat	Note=LRR 10
Q86WI3	1010	1037	1031	1058	Repeat	Note=LRR 10
Q86WI3	1083	1112	721	1866	Alternative sequence	ID=VSP_027150;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|Ref.3
Q86WI3	1083	1112	721	1866	Alternative sequence	ID=VSP_027150;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|Ref.3
Q86WI3	1083	1112	1	1866	Chain	ID=PRO_0000296189;Note=Protein NLRC5
Q86WI3	1083	1112	1	1866	Chain	ID=PRO_0000296189;Note=Protein NLRC5
Q86WI3	1083	1112	1105	1105	Natural variant	ID=VAR_034611;Note=Q->K;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269\|PubMed:15489334,ECO:0000269\|Ref.3;Dbxref=dbSNP:rs289723,PMID:15489334
Q86WI3	1083	1112	1105	1105	Natural variant	ID=VAR_034611;Note=Q->K;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269\|PubMed:15489334,ECO:0000269\|Ref.3;Dbxref=dbSNP:rs289723,PMID:15489334
Q86WI3	1220	1248	721	1866	Alternative sequence	ID=VSP_027150;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|Ref.3
Q86WI3	1220	1248	721	1866	Alternative sequence	ID=VSP_027150;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|Ref.3
Q86WI3	1220	1248	1221	1249	Alternative sequence	ID=VSP_027151;Note=In isoform 4 and isoform 5. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303\|PubMed:14702039,ECO:0000303\|PubMed:15489334;Dbxref=PMID:14702039,PMID:15489334
Q86WI3	1220	1248	1221	1249	Alternative sequence	ID=VSP_027151;Note=In isoform 4 and isoform 5. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303\|PubMed:14702039,ECO:0000303\|PubMed:15489334;Dbxref=PMID:14702039,PMID:15489334
Q86WI3	1220	1248	1	1866	Chain	ID=PRO_0000296189;Note=Protein NLRC5
Q86WI3	1220	1248	1	1866	Chain	ID=PRO_0000296189;Note=Protein NLRC5
Q86WI3	1220	1248	1242	1265	Repeat	Note=LRR 13
Q86WI3	1220	1248	1242	1265	Repeat	Note=LRR 13
Q86WI3	1249	1276	721	1866	Alternative sequence	ID=VSP_027150;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|Ref.3
Q86WI3	1249	1276	721	1866	Alternative sequence	ID=VSP_027150;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|Ref.3
Q86WI3	1249	1276	1221	1249	Alternative sequence	ID=VSP_027151;Note=In isoform 4 and isoform 5. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303\|PubMed:14702039,ECO:0000303\|PubMed:15489334;Dbxref=PMID:14702039,PMID:15489334
Q86WI3	1249	1276	1221	1249	Alternative sequence	ID=VSP_027151;Note=In isoform 4 and isoform 5. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303\|PubMed:14702039,ECO:0000303\|PubMed:15489334;Dbxref=PMID:14702039,PMID:15489334
Q86WI3	1249	1276	1	1866	Chain	ID=PRO_0000296189;Note=Protein NLRC5
Q86WI3	1249	1276	1	1866	Chain	ID=PRO_0000296189;Note=Protein NLRC5
Q86WI3	1249	1276	1242	1265	Repeat	Note=LRR 13
Q86WI3	1249	1276	1242	1265	Repeat	Note=LRR 13
Q86WI3	1249	1276	1272	1294	Repeat	Note=LRR 14
Q86WI3	1249	1276	1272	1294	Repeat	Note=LRR 14
Q86WI3	1584	1611	721	1866	Alternative sequence	ID=VSP_027150;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|Ref.3
Q86WI3	1584	1611	721	1866	Alternative sequence	ID=VSP_027150;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|Ref.3
Q86WI3	1584	1611	1329	1866	Alternative sequence	ID=VSP_027153;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:12693554;Dbxref=PMID:12693554
Q86WI3	1584	1611	1329	1866	Alternative sequence	ID=VSP_027153;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:12693554;Dbxref=PMID:12693554
Q86WI3	1584	1611	1386	1866	Alternative sequence	ID=VSP_027155;Note=In isoform 5. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:15489334;Dbxref=PMID:15489334
Q86WI3	1584	1611	1386	1866	Alternative sequence	ID=VSP_027155;Note=In isoform 5. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:15489334;Dbxref=PMID:15489334
Q86WI3	1584	1611	1552	1866	Alternative sequence	ID=VSP_027157;Note=In isoform 6. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|Ref.3
Q86WI3	1584	1611	1552	1866	Alternative sequence	ID=VSP_027157;Note=In isoform 6. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|Ref.3
Q86WI3	1584	1611	1	1866	Chain	ID=PRO_0000296189;Note=Protein NLRC5
Q86WI3	1584	1611	1	1866	Chain	ID=PRO_0000296189;Note=Protein NLRC5
Q86WI3	1584	1611	1578	1600	Repeat	Note=LRR 19
Q86WI3	1584	1611	1578	1600	Repeat	Note=LRR 19
Q86WI3	1584	1611	1605	1628	Repeat	Note=LRR 20
Q86WI3	1584	1611	1605	1628	Repeat	Note=LRR 20

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3'-UTR located exon skipping events that lost miRNA binding sites in NLRC5

3'-UTR exon skipping evnets lost miRNA binding.

Tissue type

ENST

Exon skip start

Exon skip end

microRNA

Binding site by TargetScan

Binding type by TargetScan

Bdinding site by miRanda

Score of miRanda

Energy by miRanda

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SNVs in the skipped exons for NLRC5

- Differential PSIs between mutated versus non-mutated samples.

- Depth of Coverage in the skipped exon of the mutated samples.

- Sashimi plot in the skipped exon of the mutated samples.

- Non-synonymous mutations located in the skipped exons.

Cancer type

Sample

ESID

Skipped exon start

Skipped exon end

Mutation start

Mutation end

Mutation type

Reference seq

Mutation seq

AAchange

- 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

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AD stage-associated exon skippint events for NLRC5

Associated exon skipping events with Braak staging or Clinical Dementia Rating (CDR).

AD stage info

Cohort

Tissue

SE id

Coefficient

P-value

Chromosome

Strand

E1 start

E1 end

Skipped start

Skipped end

E2 start

E2 end

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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for NLRC5

sQTL information located at the skipped exons.

Tissue type

Exon skip ID

SNP id

Location

P-value

FDR

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Correlation with RNA binding proteins (RBPs) for NLRC5

Correlated RBP and related information.

Tissue type

RBP name

Exon skip ID

Correlation coeifficient

P-value

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RelatedDrugs for NLRC5

Approved drugs targeting this gene.
(DrugBank Version 5.1.0 2018-04-02)

UniProtAcc

DrugBank ID

Drug name

Drug activity

Drug type

Drug status

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RelatedDiseases for NLRC5

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 RPSMAP, MSBB, and Mayo
	Open reading frame (ORF) annotation in the exon skipping event
	Exon skipping events in the canonical protein sequence
	3'-UTR located exon skipping events lost miRNA binding sites
	SNVs in the skipped exons with depth of coverage
	AD stage-associated exon skipping events
	Splicing Quantitative Trait Loci (sQTLs) in the skipped exons
	Correlation with RNA binding proteins (RBPs)
	Related drugs with this gene
	Related diseases with this gene

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Gene summary for NLRC5

Gene structures and expression levels for NLRC5

Exon skipping events with PSIs in ROSMAP, MSBB, and Mayo for NLRC5

Open reading frame (ORF) annotation in the exon skipping event for NLRC5

Infer the effects of exon skipping event on protein functional features for NLRC5

3'-UTR located exon skipping events that lost miRNA binding sites in NLRC5

SNVs in the skipped exons for NLRC5

AD stage-associated exon skippint events for NLRC5

Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for NLRC5

Correlation with RNA binding proteins (RBPs) for NLRC5

RelatedDrugs for NLRC5

RelatedDiseases for NLRC5