ExonSkipAD: functional annotation of exon skipping event in human

Gene summary for KTN1

Gene summary

Gene information	Gene symbol	KTN1
	Gene ID	3895
	Gene name	kinectin 1
	Synonyms	CG1\|KNT\|MU-RMS-40.19
	Cytomap	14q22.3
	Type of gene	protein-coding
	Description	kinectinCG-1 antigenkinesin receptor
	Modification date	20200313
	UniProtAcc	A0A024R663, B7Z6P3, G3V475, G3V4L8, G3V4Y7, G3V5G2, G3V5P0, G3V5Q0, H0YJB7, H0YJP2, H0YJV5, H0YJZ8, Q3SWV9, Q6NZ46, Q6PDF7, Q86UP2,
	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 KTN1

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.

ENSG00000126777

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

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 KTN1

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_111041	chr14	55637198:55637364:55637779:55637847:55639185:55639222	55637779:55637847
exon_skip_111797	chr14	55661522:55661612:55667241:55667330:55670729:55670803	55667241:55667330
exon_skip_1143	chr14	55636449:55636536:55637198:55637364:55637779:55637847	55637198:55637364
exon_skip_142679	chr14	55661522:55661612:55667241:55667330:55670729:55670809	55667241:55667330
exon_skip_153555	chr14	55678352:55678444:55679565:55679685:55684099:55684253	55679565:55679685
exon_skip_157357	chr14	55670729:55670809:55671566:55671655:55671785:55671877	55671566:55671655
exon_skip_161312	chr14	55619182:55619312:55627912:55628028:55629957:55630097	55627912:55628028
exon_skip_168090	chr14	55667241:55667330:55670729:55670809:55671566:55671655	55670729:55670809
exon_skip_176454	chr14	55580324:55580354:55612019:55612571:55616517:55616654	55612019:55612571
exon_skip_185058	chr14	55601792:55601880:55612019:55612571:55616517:55616654	55612019:55612571
exon_skip_193414	chr14	55640933:55640970:55641127:55641208:55641692:55641760	55641127:55641208
exon_skip_203660	chr14	55650328:55650418:55650569:55650637:55651287:55651375	55650569:55650637
exon_skip_225024	chr14	55671862:55671877:55672630:55672701:55672929:55673012	55672630:55672701
exon_skip_227559	chr14	55580324:55580354:55601757:55601880:55612019:55612230	55601757:55601880
exon_skip_231214	chr14	55650329:55650418:55650569:55650637:55651890:55651927	55650569:55650637
exon_skip_232859	chr14	55650328:55650418:55650569:55650637:55651890:55651927	55650569:55650637
exon_skip_23770	chr14	55650607:55650637:55651287:55651375:55651890:55651927	55651287:55651375
exon_skip_239685	chr14	55641749:55641760:55646973:55647007:55648025:55648088	55646973:55647007
exon_skip_241442	chr14	55672930:55673012:55673172:55673255:55675835:55675850	55673172:55673255
exon_skip_248140	chr14	55679663:55679685:55680686:55680741:55684099:55684139	55680686:55680741
exon_skip_256379	chr14	55627912:55628028:55629957:55630097:55633235:55633341	55629957:55630097
exon_skip_256753	chr14	55661522:55661612:55663955:55664041:55667241:55667330	55663955:55664041
exon_skip_269269	chr14	55671862:55671877:55672630:55672701:55672929:55672955	55672630:55672701
exon_skip_277184	chr14	55672977:55673012:55673172:55673255:55675835:55675918	55673172:55673255
exon_skip_284713	chr14	55672930:55673012:55673172:55673255:55675835:55675848	55673172:55673255
exon_skip_288460	chr14	55679663:55679685:55680686:55680741:55684099:55684253	55680686:55680741
exon_skip_36322	chr14	55637794:55637847:55639185:55639222:55639913:55640003	55639185:55639222
exon_skip_41782	chr14	55675835:55675918:55678352:55678444:55679565:55679685	55678352:55678444
exon_skip_49249	chr14	55656102:55656132:55658546:55658614:55659666:55659703	55658546:55658614
exon_skip_51018	chr14	55663955:55664041:55667241:55667330:55670729:55670809	55667241:55667330
exon_skip_55859	chr14	55650569:55650637:55651287:55651375:55651890:55651927	55651287:55651375
exon_skip_62916	chr14	55679663:55679685:55680665:55680741:55684099:55684253	55680665:55680741
exon_skip_70311	chr14	55661522:55661612:55663955:55664041:55667241:55667309	55663955:55664041
exon_skip_72399	chr14	55658546:55658614:55659666:55659703:55661522:55661586	55659666:55659703
exon_skip_75994	chr14	55672930:55673012:55673172:55673255:55675835:55675918	55673172:55673255
exon_skip_95159	chr14	55659666:55659703:55661522:55661612:55667241:55667330	55661522:55661612
exon_skip_98700	chr14	55652850:55652940:55653017:55653085:55653559:55653596	55653017:55653085

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 KTN1

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
ENST00000395314	55612019	55612571	5CDS-5UTR
ENST00000395314	55637198	55637364	Frame-shift
ENST00000395314	55641127	55641208	Frame-shift
ENST00000395314	55646973	55647007	Frame-shift
ENST00000395314	55627912	55628028	In-frame
ENST00000395314	55629957	55630097	In-frame
ENST00000395314	55637779	55637847	In-frame
ENST00000395314	55650569	55650637	In-frame
ENST00000395314	55653017	55653085	In-frame
ENST00000395314	55663955	55664041	In-frame
ENST00000395314	55667241	55667330	In-frame
ENST00000395314	55672630	55672701	In-frame
ENST00000395314	55673172	55673255	In-frame
ENST00000395314	55678352	55678444	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
ENST00000395314	55612019	55612571	5CDS-5UTR
ENST00000395314	55641127	55641208	Frame-shift
ENST00000395314	55629957	55630097	In-frame
ENST00000395314	55650569	55650637	In-frame
ENST00000395314	55663955	55664041	In-frame
ENST00000395314	55667241	55667330	In-frame
ENST00000395314	55673172	55673255	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
ENST00000395314	55612019	55612571	5CDS-5UTR
ENST00000395314	55639185	55639222	Frame-shift
ENST00000395314	55641127	55641208	Frame-shift
ENST00000395314	55646973	55647007	Frame-shift
ENST00000395314	55659666	55659703	Frame-shift
ENST00000395314	55679565	55679685	Frame-shift
ENST00000395314	55629957	55630097	In-frame
ENST00000395314	55637779	55637847	In-frame
ENST00000395314	55650569	55650637	In-frame
ENST00000395314	55653017	55653085	In-frame
ENST00000395314	55658546	55658614	In-frame
ENST00000395314	55663955	55664041	In-frame
ENST00000395314	55667241	55667330	In-frame
ENST00000395314	55670729	55670809	In-frame
ENST00000395314	55671566	55671655	In-frame
ENST00000395314	55672630	55672701	In-frame
ENST00000395314	55673172	55673255	In-frame

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Infer the effects of exon skipping event on protein functional features for KTN1

p-ENSG00000126777_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
ENST00000395314	4635	1357	55627912	55628028	1033	1148	321	360
ENST00000395314	4635	1357	55629957	55630097	1150	1289	360	407
ENST00000395314	4635	1357	55637779	55637847	1786	1853	572	595
ENST00000395314	4635	1357	55650569	55650637	2566	2633	832	855
ENST00000395314	4635	1357	55653017	55653085	2764	2831	898	921
ENST00000395314	4635	1357	55663955	55664041	3160	3245	1030	1059
ENST00000395314	4635	1357	55667241	55667330	3247	3335	1059	1089
ENST00000395314	4635	1357	55672630	55672701	3601	3671	1177	1201
ENST00000395314	4635	1357	55673172	55673255	3757	3839	1229	1257
ENST00000395314	4635	1357	55678352	55678444	3925	4016	1285	1316

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
ENST00000395314	4635	1357	55629957	55630097	1150	1289	360	407
ENST00000395314	4635	1357	55650569	55650637	2566	2633	832	855
ENST00000395314	4635	1357	55663955	55664041	3160	3245	1030	1059
ENST00000395314	4635	1357	55667241	55667330	3247	3335	1059	1089
ENST00000395314	4635	1357	55673172	55673255	3757	3839	1229	1257

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
ENST00000395314	4635	1357	55629957	55630097	1150	1289	360	407
ENST00000395314	4635	1357	55637779	55637847	1786	1853	572	595
ENST00000395314	4635	1357	55650569	55650637	2566	2633	832	855
ENST00000395314	4635	1357	55653017	55653085	2764	2831	898	921
ENST00000395314	4635	1357	55658546	55658614	2962	3029	964	987
ENST00000395314	4635	1357	55663955	55664041	3160	3245	1030	1059
ENST00000395314	4635	1357	55667241	55667330	3247	3335	1059	1089
ENST00000395314	4635	1357	55670729	55670809	3337	3416	1089	1116
ENST00000395314	4635	1357	55671566	55671655	3418	3506	1116	1146
ENST00000395314	4635	1357	55672630	55672701	3601	3671	1177	1201
ENST00000395314	4635	1357	55673172	55673255	3757	3839	1229	1257

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
Q86UP2	321	360	1	1357	Chain	ID=PRO_0000084337;Note=Kinectin
Q86UP2	321	360	330	1356	Coiled coil	Ontology_term=ECO:0000255;evidence=ECO:0000255
Q86UP2	321	360	30	1357	Topological domain	Note=Lumenal;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q86UP2	360	407	1	1357	Chain	ID=PRO_0000084337;Note=Kinectin
Q86UP2	360	407	330	1356	Coiled coil	Ontology_term=ECO:0000255;evidence=ECO:0000255
Q86UP2	360	407	373	373	Sequence conflict	Note=I->M;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q86UP2	360	407	30	1357	Topological domain	Note=Lumenal;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q86UP2	572	595	1	1357	Chain	ID=PRO_0000084337;Note=Kinectin
Q86UP2	572	595	330	1356	Coiled coil	Ontology_term=ECO:0000255;evidence=ECO:0000255
Q86UP2	572	595	30	1357	Topological domain	Note=Lumenal;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q86UP2	832	855	832	854	Alternative sequence	ID=VSP_043207;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:15489334;Dbxref=PMID:15489334
Q86UP2	832	855	1	1357	Chain	ID=PRO_0000084337;Note=Kinectin
Q86UP2	832	855	330	1356	Coiled coil	Ontology_term=ECO:0000255;evidence=ECO:0000255
Q86UP2	832	855	30	1357	Topological domain	Note=Lumenal;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q86UP2	898	921	1	1357	Chain	ID=PRO_0000084337;Note=Kinectin
Q86UP2	898	921	330	1356	Coiled coil	Ontology_term=ECO:0000255;evidence=ECO:0000255
Q86UP2	898	921	904	904	Glycosylation	Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q86UP2	898	921	30	1357	Topological domain	Note=Lumenal;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q86UP2	1030	1059	1031	1059	Alternative sequence	ID=VSP_007981;Note=In isoform 2. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303\|PubMed:7584026,ECO:0000303\|PubMed:8039706;Dbxref=PMID:7584026,PMID:8039706
Q86UP2	1030	1059	1	1357	Chain	ID=PRO_0000084337;Note=Kinectin
Q86UP2	1030	1059	330	1356	Coiled coil	Ontology_term=ECO:0000255;evidence=ECO:0000255
Q86UP2	1030	1059	1055	1055	Glycosylation	Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q86UP2	1030	1059	30	1357	Topological domain	Note=Lumenal;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q86UP2	1059	1089	1031	1059	Alternative sequence	ID=VSP_007981;Note=In isoform 2. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303\|PubMed:7584026,ECO:0000303\|PubMed:8039706;Dbxref=PMID:7584026,PMID:8039706
Q86UP2	1059	1089	1	1357	Chain	ID=PRO_0000084337;Note=Kinectin
Q86UP2	1059	1089	330	1356	Coiled coil	Ontology_term=ECO:0000255;evidence=ECO:0000255
Q86UP2	1059	1089	1088	1088	Glycosylation	Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q86UP2	1059	1089	1084	1084	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244\|PubMed:24275569;Dbxref=PMID:24275569
Q86UP2	1059	1089	30	1357	Topological domain	Note=Lumenal;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q86UP2	1177	1201	1	1357	Chain	ID=PRO_0000084337;Note=Kinectin
Q86UP2	1177	1201	330	1356	Coiled coil	Ontology_term=ECO:0000255;evidence=ECO:0000255
Q86UP2	1177	1201	30	1357	Topological domain	Note=Lumenal;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q86UP2	1229	1257	1232	1259	Alternative sequence	ID=VSP_007982;Note=In isoform 2%2C isoform 3 and isoform 4. Missing;Ontology_term=ECO:0000303,ECO:0000303,ECO:0000303,ECO:0000303;evidence=ECO:0000303\|PubMed:14702039,ECO:0000303\|PubMed:15489334,ECO:0000303\|PubMed:7584026,ECO:0000303\|PubMed:8039706;Dbxref
Q86UP2	1229	1257	1	1357	Chain	ID=PRO_0000084337;Note=Kinectin
Q86UP2	1229	1257	330	1356	Coiled coil	Ontology_term=ECO:0000255;evidence=ECO:0000255
Q86UP2	1229	1257	1233	1233	Natural variant	ID=VAR_079266;Note=L->M;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:27932480;Dbxref=dbSNP:rs372815686,PMID:27932480
Q86UP2	1229	1257	30	1357	Topological domain	Note=Lumenal;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q86UP2	1285	1316	1	1357	Chain	ID=PRO_0000084337;Note=Kinectin
Q86UP2	1285	1316	330	1356	Coiled coil	Ontology_term=ECO:0000255;evidence=ECO:0000255
Q86UP2	1285	1316	1313	1313	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244\|PubMed:23186163;Dbxref=PMID:23186163
Q86UP2	1285	1316	1316	1316	Natural variant	ID=VAR_035932;Note=In a breast cancer sample%3B somatic mutation. T->P;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:16959974;Dbxref=PMID:16959974
Q86UP2	1285	1316	30	1357	Topological domain	Note=Lumenal;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
Q86UP2	360	407	1	1357	Chain	ID=PRO_0000084337;Note=Kinectin
Q86UP2	360	407	330	1356	Coiled coil	Ontology_term=ECO:0000255;evidence=ECO:0000255
Q86UP2	360	407	373	373	Sequence conflict	Note=I->M;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q86UP2	360	407	30	1357	Topological domain	Note=Lumenal;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q86UP2	832	855	832	854	Alternative sequence	ID=VSP_043207;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:15489334;Dbxref=PMID:15489334
Q86UP2	832	855	1	1357	Chain	ID=PRO_0000084337;Note=Kinectin
Q86UP2	832	855	330	1356	Coiled coil	Ontology_term=ECO:0000255;evidence=ECO:0000255
Q86UP2	832	855	30	1357	Topological domain	Note=Lumenal;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q86UP2	1030	1059	1031	1059	Alternative sequence	ID=VSP_007981;Note=In isoform 2. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303\|PubMed:7584026,ECO:0000303\|PubMed:8039706;Dbxref=PMID:7584026,PMID:8039706
Q86UP2	1030	1059	1	1357	Chain	ID=PRO_0000084337;Note=Kinectin
Q86UP2	1030	1059	330	1356	Coiled coil	Ontology_term=ECO:0000255;evidence=ECO:0000255
Q86UP2	1030	1059	1055	1055	Glycosylation	Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q86UP2	1030	1059	30	1357	Topological domain	Note=Lumenal;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q86UP2	1059	1089	1031	1059	Alternative sequence	ID=VSP_007981;Note=In isoform 2. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303\|PubMed:7584026,ECO:0000303\|PubMed:8039706;Dbxref=PMID:7584026,PMID:8039706
Q86UP2	1059	1089	1	1357	Chain	ID=PRO_0000084337;Note=Kinectin
Q86UP2	1059	1089	330	1356	Coiled coil	Ontology_term=ECO:0000255;evidence=ECO:0000255
Q86UP2	1059	1089	1088	1088	Glycosylation	Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q86UP2	1059	1089	1084	1084	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244\|PubMed:24275569;Dbxref=PMID:24275569
Q86UP2	1059	1089	30	1357	Topological domain	Note=Lumenal;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q86UP2	1229	1257	1232	1259	Alternative sequence	ID=VSP_007982;Note=In isoform 2%2C isoform 3 and isoform 4. Missing;Ontology_term=ECO:0000303,ECO:0000303,ECO:0000303,ECO:0000303;evidence=ECO:0000303\|PubMed:14702039,ECO:0000303\|PubMed:15489334,ECO:0000303\|PubMed:7584026,ECO:0000303\|PubMed:8039706;Dbxref
Q86UP2	1229	1257	1	1357	Chain	ID=PRO_0000084337;Note=Kinectin
Q86UP2	1229	1257	330	1356	Coiled coil	Ontology_term=ECO:0000255;evidence=ECO:0000255
Q86UP2	1229	1257	1233	1233	Natural variant	ID=VAR_079266;Note=L->M;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:27932480;Dbxref=dbSNP:rs372815686,PMID:27932480
Q86UP2	1229	1257	30	1357	Topological domain	Note=Lumenal;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
Q86UP2	360	407	1	1357	Chain	ID=PRO_0000084337;Note=Kinectin
Q86UP2	360	407	330	1356	Coiled coil	Ontology_term=ECO:0000255;evidence=ECO:0000255
Q86UP2	360	407	373	373	Sequence conflict	Note=I->M;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q86UP2	360	407	30	1357	Topological domain	Note=Lumenal;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q86UP2	572	595	1	1357	Chain	ID=PRO_0000084337;Note=Kinectin
Q86UP2	572	595	330	1356	Coiled coil	Ontology_term=ECO:0000255;evidence=ECO:0000255
Q86UP2	572	595	30	1357	Topological domain	Note=Lumenal;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q86UP2	832	855	832	854	Alternative sequence	ID=VSP_043207;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:15489334;Dbxref=PMID:15489334
Q86UP2	832	855	1	1357	Chain	ID=PRO_0000084337;Note=Kinectin
Q86UP2	832	855	330	1356	Coiled coil	Ontology_term=ECO:0000255;evidence=ECO:0000255
Q86UP2	832	855	30	1357	Topological domain	Note=Lumenal;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q86UP2	898	921	1	1357	Chain	ID=PRO_0000084337;Note=Kinectin
Q86UP2	898	921	330	1356	Coiled coil	Ontology_term=ECO:0000255;evidence=ECO:0000255
Q86UP2	898	921	904	904	Glycosylation	Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q86UP2	898	921	30	1357	Topological domain	Note=Lumenal;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q86UP2	964	987	1	1357	Chain	ID=PRO_0000084337;Note=Kinectin
Q86UP2	964	987	330	1356	Coiled coil	Ontology_term=ECO:0000255;evidence=ECO:0000255
Q86UP2	964	987	30	1357	Topological domain	Note=Lumenal;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q86UP2	1030	1059	1031	1059	Alternative sequence	ID=VSP_007981;Note=In isoform 2. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303\|PubMed:7584026,ECO:0000303\|PubMed:8039706;Dbxref=PMID:7584026,PMID:8039706
Q86UP2	1030	1059	1	1357	Chain	ID=PRO_0000084337;Note=Kinectin
Q86UP2	1030	1059	330	1356	Coiled coil	Ontology_term=ECO:0000255;evidence=ECO:0000255
Q86UP2	1030	1059	1055	1055	Glycosylation	Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q86UP2	1030	1059	30	1357	Topological domain	Note=Lumenal;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q86UP2	1059	1089	1031	1059	Alternative sequence	ID=VSP_007981;Note=In isoform 2. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303\|PubMed:7584026,ECO:0000303\|PubMed:8039706;Dbxref=PMID:7584026,PMID:8039706
Q86UP2	1059	1089	1	1357	Chain	ID=PRO_0000084337;Note=Kinectin
Q86UP2	1059	1089	330	1356	Coiled coil	Ontology_term=ECO:0000255;evidence=ECO:0000255
Q86UP2	1059	1089	1088	1088	Glycosylation	Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q86UP2	1059	1089	1084	1084	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244\|PubMed:24275569;Dbxref=PMID:24275569
Q86UP2	1059	1089	30	1357	Topological domain	Note=Lumenal;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q86UP2	1089	1116	1	1357	Chain	ID=PRO_0000084337;Note=Kinectin
Q86UP2	1089	1116	330	1356	Coiled coil	Ontology_term=ECO:0000255;evidence=ECO:0000255
Q86UP2	1089	1116	30	1357	Topological domain	Note=Lumenal;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q86UP2	1116	1146	1	1357	Chain	ID=PRO_0000084337;Note=Kinectin
Q86UP2	1116	1146	330	1356	Coiled coil	Ontology_term=ECO:0000255;evidence=ECO:0000255
Q86UP2	1116	1146	30	1357	Topological domain	Note=Lumenal;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q86UP2	1177	1201	1	1357	Chain	ID=PRO_0000084337;Note=Kinectin
Q86UP2	1177	1201	330	1356	Coiled coil	Ontology_term=ECO:0000255;evidence=ECO:0000255
Q86UP2	1177	1201	30	1357	Topological domain	Note=Lumenal;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q86UP2	1229	1257	1232	1259	Alternative sequence	ID=VSP_007982;Note=In isoform 2%2C isoform 3 and isoform 4. Missing;Ontology_term=ECO:0000303,ECO:0000303,ECO:0000303,ECO:0000303;evidence=ECO:0000303\|PubMed:14702039,ECO:0000303\|PubMed:15489334,ECO:0000303\|PubMed:7584026,ECO:0000303\|PubMed:8039706;Dbxref
Q86UP2	1229	1257	1	1357	Chain	ID=PRO_0000084337;Note=Kinectin
Q86UP2	1229	1257	330	1356	Coiled coil	Ontology_term=ECO:0000255;evidence=ECO:0000255
Q86UP2	1229	1257	1233	1233	Natural variant	ID=VAR_079266;Note=L->M;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:27932480;Dbxref=dbSNP:rs372815686,PMID:27932480
Q86UP2	1229	1257	30	1357	Topological domain	Note=Lumenal;Ontology_term=ECO:0000255;evidence=ECO:0000255

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3'-UTR located exon skipping events that lost miRNA binding sites in KTN1

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 KTN1

- 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 KTN1

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

ROSMAP

HCC

exon_skip_75994

3.042653e-01

2.960000e-07

chr14

55672930

55673012

55673172

55673255

55675835

55675918

ADstage

ROSMAP

PCC

exon_skip_277184

3.573440e-01

7.120000e-08

chr14

55672977

55673012

55673172

55673255

55675835

55675918

CDR

MSBB

IFG

exon_skip_75994

4.204958e-01

2.587689e-02

chr14

55672930

55673012

55673172

55673255

55675835

55675918

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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for KTN1

sQTL information located at the skipped exons.

Tissue type	Exon skip ID	SNP id	Location	P-value	FDR
CB	exon_skip_142679	rs1953356	chr14:55683433	1.049869e-07	4.988249e-05
CB	exon_skip_142679	rs12434554	chr14:55707387	9.548195e-07	3.412050e-04
DLPFC	exon_skip_256753	rs4901598	chr14:55745413	6.478617e-04	3.965583e-02

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Correlation with RNA binding proteins (RBPs) for KTN1

Correlated RBP and related information.

Tissue type	RBP name	Exon skip ID	Correlation coeifficient	P-value
CB	NUP42	exon_skip_70311	4.496733e-01	2.745601e-09
DLPFC	KHDRBS2	exon_skip_232859	-6.238279e-01	2.794904e-38
DLPFC	DAZAP1	exon_skip_227559	4.161099e-01	3.634570e-15
DLPFC	SNRNP70	exon_skip_227559	4.339812e-01	1.698269e-16
DLPFC	SRSF2	exon_skip_241442	-4.608928e-01	3.498248e-14
DLPFC	ENOX1	exon_skip_241442	-4.207873e-01	7.589481e-12
DLPFC	HNRNPDL	exon_skip_241442	-4.460249e-01	2.792239e-13
DLPFC	NUP42	exon_skip_241442	-4.023567e-01	7.157731e-11
DLPFC	RALYL	exon_skip_241442	-5.054117e-01	3.678059e-17
DLPFC	SART3	exon_skip_241442	-4.408212e-01	5.642523e-13
DLPFC	NOVA1	exon_skip_241442	-5.615107e-01	1.366331e-21
FL	KHDRBS2	exon_skip_232859	-5.016482e-01	5.137793e-14
FL	KHDRBS3	exon_skip_232859	-5.728223e-01	1.167087e-18
FL	NUP42	exon_skip_232859	-4.268281e-01	3.597492e-10
FL	RALYL	exon_skip_75994	-4.224593e-01	5.118632e-10
FL	EIF4B	exon_skip_75994	-4.478031e-01	3.318216e-11
HCC	DAZAP1	exon_skip_232859	5.817506e-01	4.026721e-26
HCC	PABPN1	exon_skip_232859	5.345803e-01	1.405123e-21
HCC	KHDRBS2	exon_skip_232859	-4.276408e-01	1.452466e-13
HCC	KHDRBS3	exon_skip_232859	5.501123e-01	5.380591e-23
HCC	SRSF4	exon_skip_75994	4.313490e-01	8.484933e-14
IFG	KHDRBS2	exon_skip_232859	-4.232299e-01	2.482797e-02
PG	KHDRBS2	exon_skip_232859	-6.181828e-01	3.285510e-23
PG	KHDRBS3	exon_skip_232859	-5.580582e-01	2.421475e-18
PG	NUP42	exon_skip_232859	-4.043492e-01	1.518743e-09
STG	KHDRBS2	exon_skip_232859	-5.634941e-01	4.090171e-09
STG	KHDRBS3	exon_skip_232859	-4.750509e-01	1.498826e-06
STG	NUP42	exon_skip_232859	-4.414088e-01	9.471795e-06
STG	RALYL	exon_skip_75994	-4.213147e-01	2.886059e-05
TC	CNOT4	exon_skip_232859	-4.261332e-01	1.930288e-08
TC	KHDRBS2	exon_skip_232859	-8.304559e-01	5.456375e-42
TC	KHDRBS3	exon_skip_232859	-7.326850e-01	3.375862e-28
TC	NUP42	exon_skip_232859	-6.631893e-01	1.243862e-21
TC	SRSF2	exon_skip_284713	-4.047217e-01	1.107590e-07
TC	NUP42	exon_skip_284713	-4.517820e-01	2.016054e-09
TC	RALYL	exon_skip_284713	-5.845295e-01	4.862258e-16
TC	NOVA1	exon_skip_284713	-6.666063e-01	6.503723e-22

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RelatedDrugs for KTN1

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 KTN1

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 KTN1

Gene structures and expression levels for KTN1

Exon skipping events with PSIs in ROSMAP, MSBB, and Mayo for KTN1

Open reading frame (ORF) annotation in the exon skipping event for KTN1

Infer the effects of exon skipping event on protein functional features for KTN1

3'-UTR located exon skipping events that lost miRNA binding sites in KTN1

SNVs in the skipped exons for KTN1

AD stage-associated exon skippint events for KTN1

Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for KTN1

Correlation with RNA binding proteins (RBPs) for KTN1

RelatedDrugs for KTN1

RelatedDiseases for KTN1