ExonSkipAD: functional annotation of exon skipping event in human

Gene summary for LRRFIP2

Gene summary

Gene information	Gene symbol	LRRFIP2
	Gene ID	9209
	Gene name	LRR binding FLII interacting protein 2
	Synonyms	HUFI-2
	Cytomap	3p22.2
	Type of gene	protein-coding
	Description	leucine-rich repeat flightless-interacting protein 2LRR FLII-interacting protein 2leucine rich repeat (in FLII) interacting protein 2
	Modification date	20200313
	UniProtAcc	A0A024R2K4, A0A1S5UZ17, C9J0U5, C9J321, C9JC17, C9JJC9, C9JSU1, H7C3N9, Q9Y608,
	Context

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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Gene structures and expression levels for LRRFIP2

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.

ENSG00000093167

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
CB	UP	ENST00000440230.5	LRRFIP2-209:protein_coding:LRRFIP2	4.384303e+01	1.176820e+00	4.768231e-12	5.409777e-10

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 LRRFIP2

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_108956	chr3	37083636:37083806:37091467:37091538:37094792:37094908	37091467:37091538
exon_skip_130767	chr3	37083728:37083806:37091467:37091538:37094792:37094908	37091467:37091538
exon_skip_15206	chr3	37121464:37121536:37121635:37121691:37129063:37129149	37121635:37121691
exon_skip_158224	chr3	37096616:37096660:37102924:37103013:37105455:37105523	37102924:37103013
exon_skip_171789	chr3	37121492:37121536:37121635:37121691:37129063:37129149	37121635:37121691
exon_skip_214477	chr3	37112915:37112980:37115054:37115095:37121492:37121536	37115054:37115095
exon_skip_223816	chr3	37108637:37108684:37109527:37109571:37109653:37109700	37109527:37109571
exon_skip_250306	chr3	37094792:37094908:37096616:37096660:37129063:37129149	37096616:37096660
exon_skip_256152	chr3	37063742:37063791:37065810:37065942:37066224:37066325	37065810:37065942
exon_skip_262606	chr3	37102924:37103013:37105455:37105523:37108073:37108129	37105455:37105523
exon_skip_273728	chr3	37066224:37066325:37072790:37072882:37075024:37075116	37072790:37072882
exon_skip_286088	chr3	37105455:37105523:37108073:37108129:37108637:37108684	37108073:37108129
exon_skip_288138	chr3	37148927:37149038:37154614:37154656:37174539:37174582	37154614:37154656
exon_skip_31615	chr3	37055086:37055165:37058790:37058910:37063742:37063791	37058790:37058910
exon_skip_32678	chr3	37108637:37108684:37109527:37109571:37109653:37109703	37109527:37109571
exon_skip_44927	chr3	37065810:37065942:37066224:37066325:37075024:37075116	37066224:37066325
exon_skip_48495	chr3	37065810:37065942:37066224:37066325:37072790:37072882	37066224:37066325
exon_skip_49564	chr3	37063742:37063791:37065810:37065942:37075024:37075116	37065810:37065942
exon_skip_50069	chr3	37066224:37066325:37075024:37075116:37083636:37083750	37075024:37075116
exon_skip_60735	chr3	37065810:37065942:37072790:37072882:37075024:37075116	37072790:37072882
exon_skip_69313	chr3	37066267:37066325:37072790:37072882:37075024:37075116	37072790:37072882
exon_skip_87182	chr3	37121635:37121691:37127630:37127680:37129063:37129149	37127630:37127680
exon_skip_89599	chr3	37148927:37149038:37174539:37174605:37176060:37176144	37174539:37174605

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
exon_skip_44927	Mayo_TC	5.157317e-01	6.665385e-01	-1.508068e-01	2.493568e-06

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Open reading frame (ORF) annotation in the exon skipping event for LRRFIP2

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
ENST00000336686	37058790	37058910	Frame-shift
ENST00000336686	37065810	37065942	Frame-shift
ENST00000336686	37066224	37066325	In-frame
ENST00000336686	37072790	37072882	In-frame
ENST00000336686	37091467	37091538	In-frame
ENST00000336686	37102924	37103013	In-frame
ENST00000336686	37105455	37105523	In-frame
ENST00000336686	37108073	37108129	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
ENST00000336686	37058790	37058910	Frame-shift
ENST00000336686	37066224	37066325	In-frame
ENST00000336686	37072790	37072882	In-frame
ENST00000336686	37091467	37091538	In-frame
ENST00000336686	37102924	37103013	In-frame
ENST00000336686	37109527	37109571	In-frame
ENST00000336686	37127630	37127680	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
ENST00000336686	37058790	37058910	Frame-shift
ENST00000336686	37065810	37065942	Frame-shift
ENST00000336686	37066224	37066325	In-frame
ENST00000336686	37072790	37072882	In-frame
ENST00000336686	37091467	37091538	In-frame
ENST00000336686	37102924	37103013	In-frame
ENST00000336686	37105455	37105523	In-frame
ENST00000336686	37109527	37109571	In-frame
ENST00000336686	37115054	37115095	In-frame

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Infer the effects of exon skipping event on protein functional features for LRRFIP2

p-ENSG00000093167_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
ENST00000336686	3225	721	37108073	37108129	739	794	219	237
ENST00000336686	3225	721	37105455	37105523	796	863	238	260
ENST00000336686	3225	721	37102924	37103013	865	953	261	290
ENST00000336686	3225	721	37091467	37091538	1117	1187	345	368
ENST00000336686	3225	721	37072790	37072882	1453	1544	457	487
ENST00000336686	3225	721	37066224	37066325	1546	1646	488	521

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
ENST00000336686	3225	721	37127630	37127680	259	308	59	75
ENST00000336686	3225	721	37109527	37109571	646	689	188	202
ENST00000336686	3225	721	37102924	37103013	865	953	261	290
ENST00000336686	3225	721	37091467	37091538	1117	1187	345	368
ENST00000336686	3225	721	37072790	37072882	1453	1544	457	487
ENST00000336686	3225	721	37066224	37066325	1546	1646	488	521

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
ENST00000336686	3225	721	37115054	37115095	412	452	110	123
ENST00000336686	3225	721	37109527	37109571	646	689	188	202
ENST00000336686	3225	721	37105455	37105523	796	863	238	260
ENST00000336686	3225	721	37102924	37103013	865	953	261	290
ENST00000336686	3225	721	37091467	37091538	1117	1187	345	368
ENST00000336686	3225	721	37072790	37072882	1453	1544	457	487
ENST00000336686	3225	721	37066224	37066325	1546	1646	488	521

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
Q9Y608	219	237	1	621	Alternative sequence	ID=VSP_019674;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:17974005;Dbxref=PMID:17974005
Q9Y608	219	237	60	291	Alternative sequence	ID=VSP_019675;Note=In isoform 2 and isoform 4. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303\|PubMed:14702039,ECO:0000303\|PubMed:15489334;Dbxref=PMID:14702039,PMID:15489334
Q9Y608	219	237	220	291	Alternative sequence	ID=VSP_056972;Note=In isoform 5. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:14702039;Dbxref=PMID:14702039
Q9Y608	219	237	1	721	Chain	ID=PRO_0000245246;Note=Leucine-rich repeat flightless-interacting protein 2
Q9Y608	219	237	118	342	Compositional bias	Note=Ser-rich
Q9Y608	219	237	1	370	Region	Note=DVL3-binding
Q9Y608	238	260	1	621	Alternative sequence	ID=VSP_019674;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:17974005;Dbxref=PMID:17974005
Q9Y608	238	260	60	291	Alternative sequence	ID=VSP_019675;Note=In isoform 2 and isoform 4. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303\|PubMed:14702039,ECO:0000303\|PubMed:15489334;Dbxref=PMID:14702039,PMID:15489334
Q9Y608	238	260	220	291	Alternative sequence	ID=VSP_056972;Note=In isoform 5. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:14702039;Dbxref=PMID:14702039
Q9Y608	238	260	1	721	Chain	ID=PRO_0000245246;Note=Leucine-rich repeat flightless-interacting protein 2
Q9Y608	238	260	118	342	Compositional bias	Note=Ser-rich
Q9Y608	238	260	1	370	Region	Note=DVL3-binding
Q9Y608	261	290	1	621	Alternative sequence	ID=VSP_019674;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:17974005;Dbxref=PMID:17974005
Q9Y608	261	290	60	291	Alternative sequence	ID=VSP_019675;Note=In isoform 2 and isoform 4. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303\|PubMed:14702039,ECO:0000303\|PubMed:15489334;Dbxref=PMID:14702039,PMID:15489334
Q9Y608	261	290	220	291	Alternative sequence	ID=VSP_056972;Note=In isoform 5. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:14702039;Dbxref=PMID:14702039
Q9Y608	261	290	1	721	Chain	ID=PRO_0000245246;Note=Leucine-rich repeat flightless-interacting protein 2
Q9Y608	261	290	118	342	Compositional bias	Note=Ser-rich
Q9Y608	261	290	1	370	Region	Note=DVL3-binding
Q9Y608	345	368	1	621	Alternative sequence	ID=VSP_019674;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:17974005;Dbxref=PMID:17974005
Q9Y608	345	368	346	369	Alternative sequence	ID=VSP_019676;Note=In isoform 2 and isoform 5. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303\|PubMed:14702039,ECO:0000303\|PubMed:15489334;Dbxref=PMID:14702039,PMID:15489334
Q9Y608	345	368	1	721	Chain	ID=PRO_0000245246;Note=Leucine-rich repeat flightless-interacting protein 2
Q9Y608	345	368	349	524	Coiled coil	Ontology_term=ECO:0000255;evidence=ECO:0000255
Q9Y608	345	368	1	370	Region	Note=DVL3-binding
Q9Y608	457	487	1	621	Alternative sequence	ID=VSP_019674;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:17974005;Dbxref=PMID:17974005
Q9Y608	457	487	457	521	Alternative sequence	ID=VSP_019677;Note=In isoform 2 and isoform 4. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303\|PubMed:14702039,ECO:0000303\|PubMed:15489334;Dbxref=PMID:14702039,PMID:15489334
Q9Y608	457	487	1	721	Chain	ID=PRO_0000245246;Note=Leucine-rich repeat flightless-interacting protein 2
Q9Y608	457	487	349	524	Coiled coil	Ontology_term=ECO:0000255;evidence=ECO:0000255
Q9Y608	488	521	1	621	Alternative sequence	ID=VSP_019674;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:17974005;Dbxref=PMID:17974005
Q9Y608	488	521	457	521	Alternative sequence	ID=VSP_019677;Note=In isoform 2 and isoform 4. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303\|PubMed:14702039,ECO:0000303\|PubMed:15489334;Dbxref=PMID:14702039,PMID:15489334
Q9Y608	488	521	489	522	Alternative sequence	ID=VSP_056973;Note=In isoform 5. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:14702039;Dbxref=PMID:14702039
Q9Y608	488	521	1	721	Chain	ID=PRO_0000245246;Note=Leucine-rich repeat flightless-interacting protein 2
Q9Y608	488	521	349	524	Coiled coil	Ontology_term=ECO:0000255;evidence=ECO:0000255

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
Q9Y608	59	75	1	621	Alternative sequence	ID=VSP_019674;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:17974005;Dbxref=PMID:17974005
Q9Y608	59	75	60	291	Alternative sequence	ID=VSP_019675;Note=In isoform 2 and isoform 4. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303\|PubMed:14702039,ECO:0000303\|PubMed:15489334;Dbxref=PMID:14702039,PMID:15489334
Q9Y608	59	75	60	76	Alternative sequence	ID=VSP_056969;Note=In isoform 5. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:14702039;Dbxref=PMID:14702039
Q9Y608	59	75	1	721	Chain	ID=PRO_0000245246;Note=Leucine-rich repeat flightless-interacting protein 2
Q9Y608	59	75	1	370	Region	Note=DVL3-binding
Q9Y608	188	202	1	621	Alternative sequence	ID=VSP_019674;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:17974005;Dbxref=PMID:17974005
Q9Y608	188	202	60	291	Alternative sequence	ID=VSP_019675;Note=In isoform 2 and isoform 4. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303\|PubMed:14702039,ECO:0000303\|PubMed:15489334;Dbxref=PMID:14702039,PMID:15489334
Q9Y608	188	202	146	202	Alternative sequence	ID=VSP_056971;Note=In isoform 5. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:14702039;Dbxref=PMID:14702039
Q9Y608	188	202	1	721	Chain	ID=PRO_0000245246;Note=Leucine-rich repeat flightless-interacting protein 2
Q9Y608	188	202	118	342	Compositional bias	Note=Ser-rich
Q9Y608	188	202	190	190	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:21220426;Dbxref=PMID:21220426
Q9Y608	188	202	202	202	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:21220426;Dbxref=PMID:21220426
Q9Y608	188	202	190	190	Mutagenesis	Note=No change in LPS-induced NFKB activity. S->A;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:21220426;Dbxref=PMID:21220426
Q9Y608	188	202	200	200	Mutagenesis	Note=No change in LPS-induced NFKB activity. S->A;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:21220426;Dbxref=PMID:21220426
Q9Y608	188	202	202	202	Mutagenesis	Note=Reduction in LPS-induced NFKB activity. S->A;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:21220426;Dbxref=PMID:21220426
Q9Y608	188	202	202	202	Mutagenesis	Note=No change in LPS-induced NFKB activity. Interacts with MYD88 in an LPS-inducible manner. S->E;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:21220426;Dbxref=PMID:21220426
Q9Y608	188	202	1	370	Region	Note=DVL3-binding
Q9Y608	261	290	1	621	Alternative sequence	ID=VSP_019674;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:17974005;Dbxref=PMID:17974005
Q9Y608	261	290	60	291	Alternative sequence	ID=VSP_019675;Note=In isoform 2 and isoform 4. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303\|PubMed:14702039,ECO:0000303\|PubMed:15489334;Dbxref=PMID:14702039,PMID:15489334
Q9Y608	261	290	220	291	Alternative sequence	ID=VSP_056972;Note=In isoform 5. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:14702039;Dbxref=PMID:14702039
Q9Y608	261	290	1	721	Chain	ID=PRO_0000245246;Note=Leucine-rich repeat flightless-interacting protein 2
Q9Y608	261	290	118	342	Compositional bias	Note=Ser-rich
Q9Y608	261	290	1	370	Region	Note=DVL3-binding
Q9Y608	345	368	1	621	Alternative sequence	ID=VSP_019674;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:17974005;Dbxref=PMID:17974005
Q9Y608	345	368	346	369	Alternative sequence	ID=VSP_019676;Note=In isoform 2 and isoform 5. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303\|PubMed:14702039,ECO:0000303\|PubMed:15489334;Dbxref=PMID:14702039,PMID:15489334
Q9Y608	345	368	1	721	Chain	ID=PRO_0000245246;Note=Leucine-rich repeat flightless-interacting protein 2
Q9Y608	345	368	349	524	Coiled coil	Ontology_term=ECO:0000255;evidence=ECO:0000255
Q9Y608	345	368	1	370	Region	Note=DVL3-binding
Q9Y608	457	487	1	621	Alternative sequence	ID=VSP_019674;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:17974005;Dbxref=PMID:17974005
Q9Y608	457	487	457	521	Alternative sequence	ID=VSP_019677;Note=In isoform 2 and isoform 4. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303\|PubMed:14702039,ECO:0000303\|PubMed:15489334;Dbxref=PMID:14702039,PMID:15489334
Q9Y608	457	487	1	721	Chain	ID=PRO_0000245246;Note=Leucine-rich repeat flightless-interacting protein 2
Q9Y608	457	487	349	524	Coiled coil	Ontology_term=ECO:0000255;evidence=ECO:0000255
Q9Y608	488	521	1	621	Alternative sequence	ID=VSP_019674;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:17974005;Dbxref=PMID:17974005
Q9Y608	488	521	457	521	Alternative sequence	ID=VSP_019677;Note=In isoform 2 and isoform 4. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303\|PubMed:14702039,ECO:0000303\|PubMed:15489334;Dbxref=PMID:14702039,PMID:15489334
Q9Y608	488	521	489	522	Alternative sequence	ID=VSP_056973;Note=In isoform 5. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:14702039;Dbxref=PMID:14702039
Q9Y608	488	521	1	721	Chain	ID=PRO_0000245246;Note=Leucine-rich repeat flightless-interacting protein 2
Q9Y608	488	521	349	524	Coiled coil	Ontology_term=ECO:0000255;evidence=ECO:0000255

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
Q9Y608	110	123	1	621	Alternative sequence	ID=VSP_019674;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:17974005;Dbxref=PMID:17974005
Q9Y608	110	123	60	291	Alternative sequence	ID=VSP_019675;Note=In isoform 2 and isoform 4. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303\|PubMed:14702039,ECO:0000303\|PubMed:15489334;Dbxref=PMID:14702039,PMID:15489334
Q9Y608	110	123	111	124	Alternative sequence	ID=VSP_056970;Note=In isoform 5. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:14702039;Dbxref=PMID:14702039
Q9Y608	110	123	1	721	Chain	ID=PRO_0000245246;Note=Leucine-rich repeat flightless-interacting protein 2
Q9Y608	110	123	118	342	Compositional bias	Note=Ser-rich
Q9Y608	110	123	1	370	Region	Note=DVL3-binding
Q9Y608	188	202	1	621	Alternative sequence	ID=VSP_019674;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:17974005;Dbxref=PMID:17974005
Q9Y608	188	202	60	291	Alternative sequence	ID=VSP_019675;Note=In isoform 2 and isoform 4. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303\|PubMed:14702039,ECO:0000303\|PubMed:15489334;Dbxref=PMID:14702039,PMID:15489334
Q9Y608	188	202	146	202	Alternative sequence	ID=VSP_056971;Note=In isoform 5. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:14702039;Dbxref=PMID:14702039
Q9Y608	188	202	1	721	Chain	ID=PRO_0000245246;Note=Leucine-rich repeat flightless-interacting protein 2
Q9Y608	188	202	118	342	Compositional bias	Note=Ser-rich
Q9Y608	188	202	190	190	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:21220426;Dbxref=PMID:21220426
Q9Y608	188	202	202	202	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:21220426;Dbxref=PMID:21220426
Q9Y608	188	202	190	190	Mutagenesis	Note=No change in LPS-induced NFKB activity. S->A;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:21220426;Dbxref=PMID:21220426
Q9Y608	188	202	200	200	Mutagenesis	Note=No change in LPS-induced NFKB activity. S->A;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:21220426;Dbxref=PMID:21220426
Q9Y608	188	202	202	202	Mutagenesis	Note=Reduction in LPS-induced NFKB activity. S->A;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:21220426;Dbxref=PMID:21220426
Q9Y608	188	202	202	202	Mutagenesis	Note=No change in LPS-induced NFKB activity. Interacts with MYD88 in an LPS-inducible manner. S->E;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:21220426;Dbxref=PMID:21220426
Q9Y608	188	202	1	370	Region	Note=DVL3-binding
Q9Y608	238	260	1	621	Alternative sequence	ID=VSP_019674;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:17974005;Dbxref=PMID:17974005
Q9Y608	238	260	60	291	Alternative sequence	ID=VSP_019675;Note=In isoform 2 and isoform 4. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303\|PubMed:14702039,ECO:0000303\|PubMed:15489334;Dbxref=PMID:14702039,PMID:15489334
Q9Y608	238	260	220	291	Alternative sequence	ID=VSP_056972;Note=In isoform 5. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:14702039;Dbxref=PMID:14702039
Q9Y608	238	260	1	721	Chain	ID=PRO_0000245246;Note=Leucine-rich repeat flightless-interacting protein 2
Q9Y608	238	260	118	342	Compositional bias	Note=Ser-rich
Q9Y608	238	260	1	370	Region	Note=DVL3-binding
Q9Y608	261	290	1	621	Alternative sequence	ID=VSP_019674;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:17974005;Dbxref=PMID:17974005
Q9Y608	261	290	60	291	Alternative sequence	ID=VSP_019675;Note=In isoform 2 and isoform 4. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303\|PubMed:14702039,ECO:0000303\|PubMed:15489334;Dbxref=PMID:14702039,PMID:15489334
Q9Y608	261	290	220	291	Alternative sequence	ID=VSP_056972;Note=In isoform 5. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:14702039;Dbxref=PMID:14702039
Q9Y608	261	290	1	721	Chain	ID=PRO_0000245246;Note=Leucine-rich repeat flightless-interacting protein 2
Q9Y608	261	290	118	342	Compositional bias	Note=Ser-rich
Q9Y608	261	290	1	370	Region	Note=DVL3-binding
Q9Y608	345	368	1	621	Alternative sequence	ID=VSP_019674;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:17974005;Dbxref=PMID:17974005
Q9Y608	345	368	346	369	Alternative sequence	ID=VSP_019676;Note=In isoform 2 and isoform 5. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303\|PubMed:14702039,ECO:0000303\|PubMed:15489334;Dbxref=PMID:14702039,PMID:15489334
Q9Y608	345	368	1	721	Chain	ID=PRO_0000245246;Note=Leucine-rich repeat flightless-interacting protein 2
Q9Y608	345	368	349	524	Coiled coil	Ontology_term=ECO:0000255;evidence=ECO:0000255
Q9Y608	345	368	1	370	Region	Note=DVL3-binding
Q9Y608	457	487	1	621	Alternative sequence	ID=VSP_019674;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:17974005;Dbxref=PMID:17974005
Q9Y608	457	487	457	521	Alternative sequence	ID=VSP_019677;Note=In isoform 2 and isoform 4. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303\|PubMed:14702039,ECO:0000303\|PubMed:15489334;Dbxref=PMID:14702039,PMID:15489334
Q9Y608	457	487	1	721	Chain	ID=PRO_0000245246;Note=Leucine-rich repeat flightless-interacting protein 2
Q9Y608	457	487	349	524	Coiled coil	Ontology_term=ECO:0000255;evidence=ECO:0000255
Q9Y608	488	521	1	621	Alternative sequence	ID=VSP_019674;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:17974005;Dbxref=PMID:17974005
Q9Y608	488	521	457	521	Alternative sequence	ID=VSP_019677;Note=In isoform 2 and isoform 4. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303\|PubMed:14702039,ECO:0000303\|PubMed:15489334;Dbxref=PMID:14702039,PMID:15489334
Q9Y608	488	521	489	522	Alternative sequence	ID=VSP_056973;Note=In isoform 5. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:14702039;Dbxref=PMID:14702039
Q9Y608	488	521	1	721	Chain	ID=PRO_0000245246;Note=Leucine-rich repeat flightless-interacting protein 2
Q9Y608	488	521	349	524	Coiled coil	Ontology_term=ECO:0000255;evidence=ECO:0000255

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3'-UTR located exon skipping events that lost miRNA binding sites in LRRFIP2

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 LRRFIP2

- 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 LRRFIP2

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 LRRFIP2

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 LRRFIP2

Correlated RBP and related information.

Tissue type	RBP name	Exon skip ID	Correlation coeifficient	P-value
CB	SRSF9	exon_skip_44927	4.048909e-01	1.198858e-07
CB	NUP42	exon_skip_273728	4.197363e-01	4.446930e-08
DLPFC	NOVA1	exon_skip_44927	4.024446e-01	1.249307e-14
HCC	HNRNPF	exon_skip_44927	-5.657489e-01	2.053124e-24
IFG	KHDRBS2	exon_skip_108956	4.505285e-01	1.835840e-02
IFG	KHDRBS3	exon_skip_108956	4.074025e-01	3.492371e-02
PCC	PABPC1	exon_skip_44927	-4.374595e-01	3.155352e-11
PCC	HNRNPF	exon_skip_44927	-5.239854e-01	3.313410e-16
TC	ENOX1	exon_skip_44927	4.016617e-01	1.407823e-07
TC	NOVA1	exon_skip_44927	7.897915e-01	2.309724e-35
TC	KHDRBS2	exon_skip_130767	4.446484e-01	3.851191e-09

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RelatedDrugs for LRRFIP2

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 LRRFIP2

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 LRRFIP2

Gene structures and expression levels for LRRFIP2

Exon skipping events with PSIs in ROSMAP, MSBB, and Mayo for LRRFIP2

Open reading frame (ORF) annotation in the exon skipping event for LRRFIP2

Infer the effects of exon skipping event on protein functional features for LRRFIP2

3'-UTR located exon skipping events that lost miRNA binding sites in LRRFIP2

SNVs in the skipped exons for LRRFIP2

AD stage-associated exon skippint events for LRRFIP2

Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for LRRFIP2

Correlation with RNA binding proteins (RBPs) for LRRFIP2

RelatedDrugs for LRRFIP2

RelatedDiseases for LRRFIP2