ExonSkipAD: functional annotation of exon skipping event in human

Gene summary for ITSN1

Gene summary

Gene information	Gene symbol	ITSN1
	Gene ID	6453
	Gene name	intersectin 1
	Synonyms	ITSN\|SH3D1A\|SH3P17
	Cytomap	21q22.11
	Type of gene	protein-coding
	Description	intersectin-1SH3 domain-containing protein 1ASrc homology 3 domain-containing proteinhuman intersectin-SH3 domain-containing protein SH3P17intersectin 1 (SH3 domain protein)intersectin 1 short form variant 3intersectin 1 short form variant, 11inter
	Modification date	20200313
	UniProtAcc	A0A2X0TVY8, A7XZY7, A8CTZ0, A8W608, C9J1A4, C9JQZ7, C9JXS9, D6PAV9, D6PAW0, D6PAW2, F8W7U0, H0Y3G5, H0Y523, H0Y6W3, H0Y7J7, H7C3F1, H7C429, Q0PW96, Q14BD4, Q15811, Q2LAE2, Q6GMY7, Q6J1T1, Q6J1T2, Q6J333, Q6J334, Q6PD56, Q7Z452, Q7Z453, Q86VI9,
	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 ITSN1

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.

ENSG00000205726

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
PCC	UP	ENST00000475422.5	ITSN1-227:retained_intron:ITSN1	2.892315e+00	9.752860e-01	9.003483e-04	2.399845e-02
STG	UP	ENST00000399367.7	ITSN1-212:protein_coding:ITSN1	1.628307e+01	2.334416e+01	1.067571e-30	2.823382e-27
CB	UP	ENST00000379960.9	ITSN1-201:protein_coding:ITSN1	5.094670e+00	1.500918e+00	1.999729e-06	2.701468e-05
CB	UP	ENST00000381284.7	ITSN1-203:protein_coding:ITSN1	1.834882e+00	1.402505e+00	3.012087e-05	2.674853e-04
TC	UP	ENST00000437126.5	ITSN1-217:nonsense_mediated_decay:ITSN1	7.330479e-01	1.318771e+00	1.205050e-04	1.876195e-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 ITSN1

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_105001	chr21	33799923:33799929:33802437:33802444:33810975:33811222	33802437:33802444
exon_skip_109084	chr21	33799809:33799929:33802437:33802444:33810975:33811222	33802437:33802444
exon_skip_111070	chr21	33774968:33775108:33781461:33781548:33781994:33782133	33781461:33781548
exon_skip_119329	chr21	33781461:33781548:33781994:33782133:33794341:33794468	33781994:33782133
exon_skip_128726	chr21	33765875:33766012:33767713:33767828:33772061:33772282	33767713:33767828
exon_skip_131427	chr21	33799808:33799929:33802437:33802444:33810975:33811222	33802437:33802444
exon_skip_138877	chr21	33642662:33642713:33689322:33689383:33718797:33718856	33689322:33689383
exon_skip_141670	chr21	33823487:33823653:33826818:33826863:33829624:33829686	33826818:33826863
exon_skip_147443	chr21	33819241:33819323:33823487:33823653:33826818:33826863	33823487:33823653
exon_skip_157442	chr21	33867233:33867331:33875354:33875521:33882243:33882455	33875354:33875521
exon_skip_164471	chr21	33735044:33735204:33750254:33750322:33751810:33751906	33750254:33750322
exon_skip_165736	chr21	33735044:33735204:33750254:33750322:33751810:33751828	33750254:33750322
exon_skip_173687	chr21	33642542:33642713:33718797:33718856:33721178:33721270	33718797:33718856
exon_skip_196010	chr21	33755297:33755397:33761923:33761986:33765875:33766012	33761923:33761986
exon_skip_205023	chr21	33826818:33826863:33828968:33829050:33829624:33829745	33828968:33829050
exon_skip_206627	chr21	33819241:33819323:33829624:33829745:33834307:33834424	33829624:33829745
exon_skip_208628	chr21	33755297:33755397:33756787:33757073:33761923:33761986	33756787:33757073
exon_skip_227011	chr21	33751810:33751906:33755297:33755397:33761923:33761986	33755297:33755397
exon_skip_230583	chr21	33735044:33735204:33750143:33750322:33751810:33751828	33750143:33750322
exon_skip_235283	chr21	33875360:33875521:33882243:33882455:33883550:33883671	33882243:33882455
exon_skip_253335	chr21	33819241:33819323:33826818:33826863:33829624:33829686	33826818:33826863
exon_skip_262865	chr21	33751813:33751906:33755297:33755397:33761923:33761986	33755297:33755397
exon_skip_287984	chr21	33799923:33799929:33802430:33802444:33810975:33811222	33802430:33802444
exon_skip_288534	chr21	33799923:33799929:33810975:33811222:33813913:33814072	33810975:33811222
exon_skip_30703	chr21	33761923:33761986:33765875:33766012:33767713:33767828	33765875:33766012
exon_skip_44271	chr21	33875358:33875521:33883550:33883671:33885041:33885123	33883550:33883671
exon_skip_45230	chr21	33765875:33766012:33767713:33767828:33772039:33772323	33767713:33767828
exon_skip_53435	chr21	33721178:33721270:33722588:33722651:33735044:33735093	33722588:33722651
exon_skip_60812	chr21	33867233:33867331:33875354:33875521:33882243:33882254	33875354:33875521
exon_skip_66009	chr21	33735044:33735204:33750143:33750322:33751810:33751906	33750143:33750322
exon_skip_78976	chr21	33856736:33856857:33858686:33858792:33865151:33865334	33858686:33858792
exon_skip_8633	chr21	33642542:33642713:33689322:33689383:33718797:33718856	33689322:33689383
exon_skip_87452	chr21	33834307:33834424:33836441:33836632:33856736:33856793	33836441:33836632
exon_skip_91126	chr21	33813913:33814072:33818267:33818472:33819241:33819323	33818267:33818472
exon_skip_96356	chr21	33819241:33819323:33829624:33829745:33834307:33834396	33829624:33829745
exon_skip_983	chr21	33826818:33826863:33828968:33829050:33829624:33829686	33828968:33829050

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_287984	MSBB_PG	3.522963e-01	5.091667e-01	-1.568704e-01	7.351836e-05

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Open reading frame (ORF) annotation in the exon skipping event for ITSN1

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
ENST00000381318	33718797	33718856	5CDS-5UTR
ENST00000381318	33755297	33755397	Frame-shift
ENST00000381318	33767713	33767828	Frame-shift
ENST00000381318	33781461	33781548	Frame-shift
ENST00000381318	33818267	33818472	Frame-shift
ENST00000381318	33823487	33823653	Frame-shift
ENST00000381318	33826818	33826863	Frame-shift
ENST00000381318	33858686	33858792	Frame-shift
ENST00000381318	33750143	33750322	In-frame
ENST00000381318	33802430	33802444	In-frame
ENST00000381318	33836441	33836632	In-frame
ENST00000381318	33875354	33875521	In-frame
ENST00000381318	33882243	33882455	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
ENST00000381318	33767713	33767828	Frame-shift
ENST00000381318	33781994	33782133	Frame-shift
ENST00000381318	33823487	33823653	Frame-shift
ENST00000381318	33858686	33858792	Frame-shift
ENST00000381318	33750143	33750322	In-frame
ENST00000381318	33802430	33802444	In-frame
ENST00000381318	33836441	33836632	In-frame
ENST00000381318	33875354	33875521	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
ENST00000381318	33718797	33718856	5CDS-5UTR
ENST00000381318	33722588	33722651	Frame-shift
ENST00000381318	33755297	33755397	Frame-shift
ENST00000381318	33761923	33761986	Frame-shift
ENST00000381318	33767713	33767828	Frame-shift
ENST00000381318	33781461	33781548	Frame-shift
ENST00000381318	33781994	33782133	Frame-shift
ENST00000381318	33818267	33818472	Frame-shift
ENST00000381318	33823487	33823653	Frame-shift
ENST00000381318	33826818	33826863	Frame-shift
ENST00000381318	33858686	33858792	Frame-shift
ENST00000381318	33765875	33766012	In-frame
ENST00000381318	33802430	33802444	In-frame
ENST00000381318	33836441	33836632	In-frame
ENST00000381318	33875354	33875521	In-frame

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Infer the effects of exon skipping event on protein functional features for ITSN1

p-ENSG00000205726_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
ENST00000381318	17032	1721	33750143	33750322	636	814	116	175
ENST00000381318	17032	1721	33836441	33836632	3759	3949	1157	1220
ENST00000381318	17032	1721	33875354	33875521	4463	4629	1391	1447
ENST00000381318	17032	1721	33882243	33882455	4631	4842	1447	1518

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
ENST00000381318	17032	1721	33750143	33750322	636	814	116	175
ENST00000381318	17032	1721	33836441	33836632	3759	3949	1157	1220
ENST00000381318	17032	1721	33875354	33875521	4463	4629	1391	1447

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
ENST00000381318	17032	1721	33765875	33766012	1078	1214	263	308
ENST00000381318	17032	1721	33836441	33836632	3759	3949	1157	1220
ENST00000381318	17032	1721	33875354	33875521	4463	4629	1391	1447

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
Q15811	116	175	116	152	Alternative sequence	ID=VSP_053317;Note=In isoform 10%2C isoform 11 and isoform 12. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:19777371;Dbxref=PMID:19777371
Q15811	116	175	1	1721	Chain	ID=PRO_0000080957;Note=Intersectin-1
Q15811	1157	1220	920	1721	Alternative sequence	ID=VSP_053319;Note=In isoform 13. Missing;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q15811	1157	1220	1021	1721	Alternative sequence	ID=VSP_053321;Note=In isoform 6. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:19777371;Dbxref=PMID:19777371
Q15811	1157	1220	1026	1721	Alternative sequence	ID=VSP_047461;Note=In isoform 5. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:21712076;Dbxref=PMID:21712076
Q15811	1157	1220	1	1721	Chain	ID=PRO_0000080957;Note=Intersectin-1
Q15811	1157	1220	1155	1214	Domain	Note=SH3 5;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00192
Q15811	1391	1447	920	1721	Alternative sequence	ID=VSP_053319;Note=In isoform 13. Missing;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q15811	1391	1447	1021	1721	Alternative sequence	ID=VSP_053321;Note=In isoform 6. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:19777371;Dbxref=PMID:19777371
Q15811	1391	1447	1026	1721	Alternative sequence	ID=VSP_047461;Note=In isoform 5. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:21712076;Dbxref=PMID:21712076
Q15811	1391	1447	1221	1721	Alternative sequence	ID=VSP_004295;Note=In isoform 2%2C isoform 3%2C isoform 7%2C isoform 10%2C isoform 11 and isoform 12. Missing;Ontology_term=ECO:0000303,ECO:0000303,ECO:0000303,ECO:0000303,ECO:0000303,ECO:0000303,ECO:0000303;evidence=ECO:0000303\|PubMed:10482960,ECO:000030
Q15811	1391	1447	1392	1447	Alternative sequence	ID=VSP_053322;Note=In isoform 9. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:19777371;Dbxref=PMID:19777371
Q15811	1391	1447	1444	1447	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5HZJ
Q15811	1391	1447	1	1721	Chain	ID=PRO_0000080957;Note=Intersectin-1
Q15811	1391	1447	1237	1423	Domain	Note=DH;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00062
Q15811	1391	1447	1377	1393	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:1KI1
Q15811	1391	1447	1403	1437	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:1KI1
Q15811	1447	1518	920	1721	Alternative sequence	ID=VSP_053319;Note=In isoform 13. Missing;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q15811	1447	1518	1021	1721	Alternative sequence	ID=VSP_053321;Note=In isoform 6. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:19777371;Dbxref=PMID:19777371
Q15811	1447	1518	1026	1721	Alternative sequence	ID=VSP_047461;Note=In isoform 5. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:21712076;Dbxref=PMID:21712076
Q15811	1447	1518	1221	1721	Alternative sequence	ID=VSP_004295;Note=In isoform 2%2C isoform 3%2C isoform 7%2C isoform 10%2C isoform 11 and isoform 12. Missing;Ontology_term=ECO:0000303,ECO:0000303,ECO:0000303,ECO:0000303,ECO:0000303,ECO:0000303,ECO:0000303;evidence=ECO:0000303\|PubMed:10482960,ECO:000030
Q15811	1447	1518	1392	1447	Alternative sequence	ID=VSP_053322;Note=In isoform 9. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:19777371;Dbxref=PMID:19777371
Q15811	1447	1518	1444	1447	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5HZJ
Q15811	1447	1518	1451	1454	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:1KI1
Q15811	1447	1518	1456	1460	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:1KI1
Q15811	1447	1518	1463	1466	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:1KI1
Q15811	1447	1518	1472	1474	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:1KI1
Q15811	1447	1518	1479	1493	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:1KI1
Q15811	1447	1518	1511	1513	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:1KI1
Q15811	1447	1518	1	1721	Chain	ID=PRO_0000080957;Note=Intersectin-1
Q15811	1447	1518	1462	1571	Domain	Note=PH;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00145
Q15811	1447	1518	1474	1474	Sequence conflict	Note=S->N;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q15811	1447	1518	1474	1474	Sequence conflict	Note=S->N;Ontology_term=ECO:0000305;evidence=ECO:0000305

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
Q15811	116	175	116	152	Alternative sequence	ID=VSP_053317;Note=In isoform 10%2C isoform 11 and isoform 12. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:19777371;Dbxref=PMID:19777371
Q15811	116	175	1	1721	Chain	ID=PRO_0000080957;Note=Intersectin-1
Q15811	1157	1220	920	1721	Alternative sequence	ID=VSP_053319;Note=In isoform 13. Missing;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q15811	1157	1220	1021	1721	Alternative sequence	ID=VSP_053321;Note=In isoform 6. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:19777371;Dbxref=PMID:19777371
Q15811	1157	1220	1026	1721	Alternative sequence	ID=VSP_047461;Note=In isoform 5. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:21712076;Dbxref=PMID:21712076
Q15811	1157	1220	1	1721	Chain	ID=PRO_0000080957;Note=Intersectin-1
Q15811	1157	1220	1155	1214	Domain	Note=SH3 5;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00192
Q15811	1391	1447	920	1721	Alternative sequence	ID=VSP_053319;Note=In isoform 13. Missing;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q15811	1391	1447	1021	1721	Alternative sequence	ID=VSP_053321;Note=In isoform 6. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:19777371;Dbxref=PMID:19777371
Q15811	1391	1447	1026	1721	Alternative sequence	ID=VSP_047461;Note=In isoform 5. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:21712076;Dbxref=PMID:21712076
Q15811	1391	1447	1221	1721	Alternative sequence	ID=VSP_004295;Note=In isoform 2%2C isoform 3%2C isoform 7%2C isoform 10%2C isoform 11 and isoform 12. Missing;Ontology_term=ECO:0000303,ECO:0000303,ECO:0000303,ECO:0000303,ECO:0000303,ECO:0000303,ECO:0000303;evidence=ECO:0000303\|PubMed:10482960,ECO:000030
Q15811	1391	1447	1392	1447	Alternative sequence	ID=VSP_053322;Note=In isoform 9. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:19777371;Dbxref=PMID:19777371
Q15811	1391	1447	1444	1447	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5HZJ
Q15811	1391	1447	1	1721	Chain	ID=PRO_0000080957;Note=Intersectin-1
Q15811	1391	1447	1237	1423	Domain	Note=DH;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00062
Q15811	1391	1447	1377	1393	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:1KI1
Q15811	1391	1447	1403	1437	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:1KI1

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
Q15811	263	308	272	275	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2KGR
Q15811	263	308	267	278	Calcium binding	Note=2;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00448
Q15811	263	308	1	1721	Chain	ID=PRO_0000080957;Note=Intersectin-1
Q15811	263	308	221	310	Domain	Note=EH 2;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00077
Q15811	263	308	254	289	Domain	Note=EF-hand 2;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00448
Q15811	263	308	256	266	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2KGR
Q15811	263	308	276	290	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2KGR
Q15811	263	308	301	303	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2KGR
Q15811	263	308	306	309	Turn	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2KGR
Q15811	1157	1220	920	1721	Alternative sequence	ID=VSP_053319;Note=In isoform 13. Missing;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q15811	1157	1220	1021	1721	Alternative sequence	ID=VSP_053321;Note=In isoform 6. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:19777371;Dbxref=PMID:19777371
Q15811	1157	1220	1026	1721	Alternative sequence	ID=VSP_047461;Note=In isoform 5. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:21712076;Dbxref=PMID:21712076
Q15811	1157	1220	1	1721	Chain	ID=PRO_0000080957;Note=Intersectin-1
Q15811	1157	1220	1155	1214	Domain	Note=SH3 5;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00192
Q15811	1391	1447	920	1721	Alternative sequence	ID=VSP_053319;Note=In isoform 13. Missing;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q15811	1391	1447	1021	1721	Alternative sequence	ID=VSP_053321;Note=In isoform 6. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:19777371;Dbxref=PMID:19777371
Q15811	1391	1447	1026	1721	Alternative sequence	ID=VSP_047461;Note=In isoform 5. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:21712076;Dbxref=PMID:21712076
Q15811	1391	1447	1221	1721	Alternative sequence	ID=VSP_004295;Note=In isoform 2%2C isoform 3%2C isoform 7%2C isoform 10%2C isoform 11 and isoform 12. Missing;Ontology_term=ECO:0000303,ECO:0000303,ECO:0000303,ECO:0000303,ECO:0000303,ECO:0000303,ECO:0000303;evidence=ECO:0000303\|PubMed:10482960,ECO:000030
Q15811	1391	1447	1392	1447	Alternative sequence	ID=VSP_053322;Note=In isoform 9. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:19777371;Dbxref=PMID:19777371
Q15811	1391	1447	1444	1447	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5HZJ
Q15811	1391	1447	1	1721	Chain	ID=PRO_0000080957;Note=Intersectin-1
Q15811	1391	1447	1237	1423	Domain	Note=DH;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00062
Q15811	1391	1447	1377	1393	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:1KI1
Q15811	1391	1447	1403	1437	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:1KI1

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3'-UTR located exon skipping events that lost miRNA binding sites in ITSN1

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 ITSN1

- 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 ITSN1

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

ADstage

MSBB

IFG

exon_skip_287984

-4.099445e-01

3.026787e-02

chr21

33799923

33799929

33802430

33802444

33810975

33811222

ADstage

ROSMAP

PCC

exon_skip_287984

-3.263922e-01

9.950000e-07

chr21

33799923

33799929

33802430

33802444

33810975

33811222

CDR

MSBB

IFG

exon_skip_287984

-4.127749e-01

2.903488e-02

chr21

33799923

33799929

33802430

33802444

33810975

33811222

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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for ITSN1

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 ITSN1

Correlated RBP and related information.

Tissue type	RBP name	Exon skip ID	Correlation coeifficient	P-value
CB	RBM25	exon_skip_287984	4.529493e-01	2.292187e-09
CB	EWSR1	exon_skip_287984	4.409677e-01	6.678142e-09
CB	SRSF9	exon_skip_287984	5.422210e-01	1.865210e-13
DLPFC	HNRNPF	exon_skip_287984	-4.203051e-01	4.991266e-16
FL	ILF2	exon_skip_287984	5.156364e-01	5.876976e-14
FL	SRSF9	exon_skip_287984	4.388508e-01	4.145459e-10
FL	ESRP1	exon_skip_287984	4.704181e-01	1.414014e-11
HCC	RBM25	exon_skip_287984	-4.725080e-01	1.371960e-16
HCC	HNRNPA2B1	exon_skip_287984	-5.510519e-01	4.392719e-23
HCC	HNRNPF	exon_skip_287984	-7.217765e-01	3.276524e-45
IFG	HNRNPF	exon_skip_287984	-4.474355e-01	1.696821e-02
PCC	HNRNPF	exon_skip_287984	-6.239209e-01	1.353288e-24
PG	ILF2	exon_skip_287984	4.598486e-01	5.807043e-11
STG	SRSF9	exon_skip_287984	4.288255e-01	8.046035e-05
TC	RBM25	exon_skip_287984	4.849052e-01	8.149428e-11
TC	ILF2	exon_skip_287984	5.685861e-01	4.399659e-15
TC	EWSR1	exon_skip_287984	4.454927e-01	3.569968e-09
TC	SRSF9	exon_skip_287984	4.209140e-01	2.988662e-08
TC	ESRP1	exon_skip_287984	6.404353e-01	7.582062e-20

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RelatedDrugs for ITSN1

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 ITSN1

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 ITSN1

Gene structures and expression levels for ITSN1

Exon skipping events with PSIs in ROSMAP, MSBB, and Mayo for ITSN1

Open reading frame (ORF) annotation in the exon skipping event for ITSN1

Infer the effects of exon skipping event on protein functional features for ITSN1

3'-UTR located exon skipping events that lost miRNA binding sites in ITSN1

SNVs in the skipped exons for ITSN1

AD stage-associated exon skippint events for ITSN1

Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for ITSN1

Correlation with RNA binding proteins (RBPs) for ITSN1

RelatedDrugs for ITSN1

RelatedDiseases for ITSN1