ExonSkipAD: functional annotation of exon skipping event in human

Gene summary for SYBU

Gene summary

Gene information	Gene symbol	SYBU
	Gene ID	55638
	Gene name	syntabulin
	Synonyms	GOLSYN\|OCSYN\|SNPHL
	Cytomap	8q23.2
	Type of gene	protein-coding
	Description	syntabulinGOLSYN A proteinGOLSYN B proteinGOLSYN C proteinGolgi-localized proteingolgi-localized syntaphilin-related proteinimplicated in syntaxin trafficking in neuronsmicrotubule-associated proteinsyntabulin (syntaxin-interacting)syntaxin-1-bin
	Modification date	20200313
	UniProtAcc	A0A0C4DG86, B3KRD1, B7Z4D2, E9PI48, E9PJ11, E9PK96, E9PL50, E9PL66, E9PLB9, E9PN31, E9PNN9, E9PPC2, E9PPS4, E9PQE2, E9PQG2, E9PRH8, E9PRT7, Q9NX95,
	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 SYBU

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.

ENSG00000147642

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	DOWN	ENST00000528331.5	SYBU-217:protein_coding:SYBU	1.827576e+03	-1.042466e+00	1.637964e-08	4.588174e-07
CB	UP	ENST00000529690.5	SYBU-224:protein_coding:SYBU	1.003766e+02	9.325196e-01	1.553422e-05	1.532078e-04
CB	UP	ENST00000533065.5	SYBU-231:protein_coding:SYBU	1.801584e+03	8.315723e-01	1.801642e-05	1.734944e-04
CB	UP	ENST00000528647.5	SYBU-219:protein_coding:SYBU	7.404289e+01	1.012462e+00	1.980151e-03	9.148225e-03
CB	UP	ENST00000531284.1	SYBU-227:retained_intron:SYBU	3.174409e+01	8.344077e-01	3.205111e-03	1.362221e-02
TC	UP	ENST00000533394.5	SYBU-233:protein_coding:SYBU	8.003052e+00	9.699853e-01	2.293415e-05	4.977837e-04

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 SYBU

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_115862	chr8	109618984:109619039:109644636:109644716:109680711:109680812	109644636:109644716
exon_skip_127917	chr8	109579936:109580002:109586060:109586162:109603357:109603454	109586060:109586162
exon_skip_130831	chr8	109579936:109580002:109586017:109586162:109607911:109607999	109586017:109586162
exon_skip_153705	chr8	109644636:109644716:109645884:109646004:109648688:109648746	109645884:109646004
exon_skip_157670	chr8	109586135:109586162:109618842:109619039:109642728:109642929	109618842:109619039
exon_skip_175326	chr8	109618984:109619039:109642728:109642932:109644636:109644716	109642728:109642932
exon_skip_186219	chr8	109577896:109578017:109579799:109580002:109586060:109586162	109579799:109580002
exon_skip_213591	chr8	109644636:109644716:109645884:109646004:109680711:109680812	109645884:109646004
exon_skip_233304	chr8	109618984:109619039:109642728:109642929:109644636:109644716	109642728:109642929
exon_skip_266383	chr8	109618984:109619039:109642728:109642947:109644636:109644716	109642728:109642947
exon_skip_41390	chr8	109579936:109580002:109586060:109586162:109607911:109607999	109586060:109586162
exon_skip_48774	chr8	109586135:109586162:109618842:109619039:109691333:109691604	109618842:109619039
exon_skip_65513	chr8	109575975:109576013:109577868:109578017:109579799:109580002	109577868:109578017
exon_skip_88332	chr8	109579936:109580002:109586060:109586162:109618842:109619039	109586060:109586162

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_233304	Mayo_CB	5.553659e-01	6.688235e-01	-1.134577e-01	3.492597e-08
exon_skip_175326	Mayo_CB	6.109756e-01	7.235294e-01	-1.125538e-01	3.068750e-09

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

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
ENST00000433638	109645884	109646004	3UTR-3UTR
ENST00000408908	109642728	109642932	Frame-shift
ENST00000422135	109642728	109642932	Frame-shift
ENST00000433638	109642728	109642932	Frame-shift
ENST00000440310	109642728	109642932	Frame-shift
ENST00000533171	109642728	109642932	Frame-shift
ENST00000276646	109618842	109619039	In-frame
ENST00000408908	109618842	109619039	In-frame
ENST00000422135	109618842	109619039	In-frame
ENST00000433638	109618842	109619039	In-frame
ENST00000440310	109618842	109619039	In-frame
ENST00000533171	109618842	109619039	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
ENST00000433638	109645884	109646004	3UTR-3UTR
ENST00000408908	109642728	109642932	Frame-shift
ENST00000422135	109642728	109642932	Frame-shift
ENST00000433638	109642728	109642932	Frame-shift
ENST00000440310	109642728	109642932	Frame-shift
ENST00000533171	109642728	109642932	Frame-shift

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
ENST00000433638	109645884	109646004	3UTR-3UTR
ENST00000276646	109586060	109586162	Frame-shift
ENST00000408908	109586060	109586162	Frame-shift
ENST00000422135	109586060	109586162	Frame-shift
ENST00000433638	109586060	109586162	Frame-shift
ENST00000440310	109586060	109586162	Frame-shift
ENST00000533171	109586060	109586162	Frame-shift
ENST00000408908	109642728	109642932	Frame-shift
ENST00000422135	109642728	109642932	Frame-shift
ENST00000433638	109642728	109642932	Frame-shift
ENST00000440310	109642728	109642932	Frame-shift
ENST00000533171	109642728	109642932	Frame-shift
ENST00000276646	109577868	109578017	In-frame
ENST00000408908	109577868	109578017	In-frame
ENST00000422135	109577868	109578017	In-frame
ENST00000433638	109577868	109578017	In-frame
ENST00000440310	109577868	109578017	In-frame
ENST00000533171	109577868	109578017	In-frame
ENST00000276646	109579799	109580002	In-frame
ENST00000408908	109579799	109580002	In-frame
ENST00000422135	109579799	109580002	In-frame
ENST00000433638	109579799	109580002	In-frame
ENST00000440310	109579799	109580002	In-frame
ENST00000533171	109579799	109580002	In-frame
ENST00000276646	109618842	109619039	In-frame
ENST00000408908	109618842	109619039	In-frame
ENST00000422135	109618842	109619039	In-frame
ENST00000433638	109618842	109619039	In-frame
ENST00000440310	109618842	109619039	In-frame
ENST00000533171	109618842	109619039	In-frame

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

p-ENSG00000147642_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
ENST00000276646	2887	663	109618842	109619039	388	584	76	142
ENST00000408908	3000	663	109618842	109619039	503	699	76	142
ENST00000422135	3243	663	109618842	109619039	746	942	76	142
ENST00000433638	3121	663	109618842	109619039	624	820	76	142
ENST00000440310	3089	663	109618842	109619039	592	788	76	142
ENST00000533171	2515	663	109618842	109619039	582	778	76	142

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

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
ENST00000276646	2887	663	109618842	109619039	388	584	76	142
ENST00000408908	3000	663	109618842	109619039	503	699	76	142
ENST00000422135	3243	663	109618842	109619039	746	942	76	142
ENST00000433638	3121	663	109618842	109619039	624	820	76	142
ENST00000440310	3089	663	109618842	109619039	592	788	76	142
ENST00000533171	2515	663	109618842	109619039	582	778	76	142
ENST00000276646	2887	663	109579799	109580002	689	891	177	244
ENST00000408908	3000	663	109579799	109580002	804	1006	177	244
ENST00000422135	3243	663	109579799	109580002	1047	1249	177	244
ENST00000433638	3121	663	109579799	109580002	925	1127	177	244
ENST00000440310	3089	663	109579799	109580002	893	1095	177	244
ENST00000533171	2515	663	109579799	109580002	883	1085	177	244
ENST00000276646	2887	663	109577868	109578017	893	1041	245	294
ENST00000408908	3000	663	109577868	109578017	1008	1156	245	294
ENST00000422135	3243	663	109577868	109578017	1251	1399	245	294
ENST00000433638	3121	663	109577868	109578017	1129	1277	245	294
ENST00000440310	3089	663	109577868	109578017	1097	1245	245	294
ENST00000533171	2515	663	109577868	109578017	1087	1235	245	294

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
Q9NX95	76	142	1	119	Alternative sequence	ID=VSP_019718;Note=In isoform 5. Missing;Ontology_term=ECO:0000303,ECO:0000303,ECO:0000303;evidence=ECO:0000303\|PubMed:14702039,ECO:0000303\|PubMed:15489334,ECO:0000303\|PubMed:15656992;Dbxref=PMID:14702039,PMID:15489334,PMID:15656992
Q9NX95	76	142	1	119	Alternative sequence	ID=VSP_019718;Note=In isoform 5. Missing;Ontology_term=ECO:0000303,ECO:0000303,ECO:0000303;evidence=ECO:0000303\|PubMed:14702039,ECO:0000303\|PubMed:15489334,ECO:0000303\|PubMed:15656992;Dbxref=PMID:14702039,PMID:15489334,PMID:15656992
Q9NX95	76	142	1	119	Alternative sequence	ID=VSP_019718;Note=In isoform 5. Missing;Ontology_term=ECO:0000303,ECO:0000303,ECO:0000303;evidence=ECO:0000303\|PubMed:14702039,ECO:0000303\|PubMed:15489334,ECO:0000303\|PubMed:15656992;Dbxref=PMID:14702039,PMID:15489334,PMID:15656992
Q9NX95	76	142	1	119	Alternative sequence	ID=VSP_019718;Note=In isoform 5. Missing;Ontology_term=ECO:0000303,ECO:0000303,ECO:0000303;evidence=ECO:0000303\|PubMed:14702039,ECO:0000303\|PubMed:15489334,ECO:0000303\|PubMed:15656992;Dbxref=PMID:14702039,PMID:15489334,PMID:15656992
Q9NX95	76	142	1	119	Alternative sequence	ID=VSP_019718;Note=In isoform 5. Missing;Ontology_term=ECO:0000303,ECO:0000303,ECO:0000303;evidence=ECO:0000303\|PubMed:14702039,ECO:0000303\|PubMed:15489334,ECO:0000303\|PubMed:15656992;Dbxref=PMID:14702039,PMID:15489334,PMID:15656992
Q9NX95	76	142	1	119	Alternative sequence	ID=VSP_019718;Note=In isoform 5. Missing;Ontology_term=ECO:0000303,ECO:0000303,ECO:0000303;evidence=ECO:0000303\|PubMed:14702039,ECO:0000303\|PubMed:15489334,ECO:0000303\|PubMed:15656992;Dbxref=PMID:14702039,PMID:15489334,PMID:15656992
Q9NX95	76	142	69	76	Alternative sequence	ID=VSP_019722;Note=In isoform 2. VSSNSFCS->MGPFWARK;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:14702039;Dbxref=PMID:14702039
Q9NX95	76	142	69	76	Alternative sequence	ID=VSP_019722;Note=In isoform 2. VSSNSFCS->MGPFWARK;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:14702039;Dbxref=PMID:14702039
Q9NX95	76	142	69	76	Alternative sequence	ID=VSP_019722;Note=In isoform 2. VSSNSFCS->MGPFWARK;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:14702039;Dbxref=PMID:14702039
Q9NX95	76	142	69	76	Alternative sequence	ID=VSP_019722;Note=In isoform 2. VSSNSFCS->MGPFWARK;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:14702039;Dbxref=PMID:14702039
Q9NX95	76	142	69	76	Alternative sequence	ID=VSP_019722;Note=In isoform 2. VSSNSFCS->MGPFWARK;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:14702039;Dbxref=PMID:14702039
Q9NX95	76	142	69	76	Alternative sequence	ID=VSP_019722;Note=In isoform 2. VSSNSFCS->MGPFWARK;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:14702039;Dbxref=PMID:14702039
Q9NX95	76	142	1	663	Chain	ID=PRO_0000050798;Note=Syntabulin
Q9NX95	76	142	1	663	Chain	ID=PRO_0000050798;Note=Syntabulin
Q9NX95	76	142	1	663	Chain	ID=PRO_0000050798;Note=Syntabulin
Q9NX95	76	142	1	663	Chain	ID=PRO_0000050798;Note=Syntabulin
Q9NX95	76	142	1	663	Chain	ID=PRO_0000050798;Note=Syntabulin
Q9NX95	76	142	1	663	Chain	ID=PRO_0000050798;Note=Syntabulin
Q9NX95	76	142	42	241	Compositional bias	Note=Ser-rich
Q9NX95	76	142	42	241	Compositional bias	Note=Ser-rich
Q9NX95	76	142	42	241	Compositional bias	Note=Ser-rich
Q9NX95	76	142	42	241	Compositional bias	Note=Ser-rich
Q9NX95	76	142	42	241	Compositional bias	Note=Ser-rich
Q9NX95	76	142	42	241	Compositional bias	Note=Ser-rich
Q9NX95	76	142	107	107	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250\|UniProtKB:Q8BHS8
Q9NX95	76	142	107	107	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250\|UniProtKB:Q8BHS8
Q9NX95	76	142	107	107	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250\|UniProtKB:Q8BHS8
Q9NX95	76	142	107	107	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250\|UniProtKB:Q8BHS8
Q9NX95	76	142	107	107	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250\|UniProtKB:Q8BHS8
Q9NX95	76	142	107	107	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250\|UniProtKB:Q8BHS8
Q9NX95	76	142	2	417	Region	Note=Sufficient for interaction with KIF5B;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:15459722;Dbxref=PMID:15459722
Q9NX95	76	142	2	417	Region	Note=Sufficient for interaction with KIF5B;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:15459722;Dbxref=PMID:15459722
Q9NX95	76	142	2	417	Region	Note=Sufficient for interaction with KIF5B;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:15459722;Dbxref=PMID:15459722
Q9NX95	76	142	2	417	Region	Note=Sufficient for interaction with KIF5B;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:15459722;Dbxref=PMID:15459722
Q9NX95	76	142	2	417	Region	Note=Sufficient for interaction with KIF5B;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:15459722;Dbxref=PMID:15459722
Q9NX95	76	142	2	417	Region	Note=Sufficient for interaction with KIF5B;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:15459722;Dbxref=PMID:15459722

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

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
Q9NX95	76	142	1	119	Alternative sequence	ID=VSP_019718;Note=In isoform 5. Missing;Ontology_term=ECO:0000303,ECO:0000303,ECO:0000303;evidence=ECO:0000303\|PubMed:14702039,ECO:0000303\|PubMed:15489334,ECO:0000303\|PubMed:15656992;Dbxref=PMID:14702039,PMID:15489334,PMID:15656992
Q9NX95	76	142	1	119	Alternative sequence	ID=VSP_019718;Note=In isoform 5. Missing;Ontology_term=ECO:0000303,ECO:0000303,ECO:0000303;evidence=ECO:0000303\|PubMed:14702039,ECO:0000303\|PubMed:15489334,ECO:0000303\|PubMed:15656992;Dbxref=PMID:14702039,PMID:15489334,PMID:15656992
Q9NX95	76	142	1	119	Alternative sequence	ID=VSP_019718;Note=In isoform 5. Missing;Ontology_term=ECO:0000303,ECO:0000303,ECO:0000303;evidence=ECO:0000303\|PubMed:14702039,ECO:0000303\|PubMed:15489334,ECO:0000303\|PubMed:15656992;Dbxref=PMID:14702039,PMID:15489334,PMID:15656992
Q9NX95	76	142	1	119	Alternative sequence	ID=VSP_019718;Note=In isoform 5. Missing;Ontology_term=ECO:0000303,ECO:0000303,ECO:0000303;evidence=ECO:0000303\|PubMed:14702039,ECO:0000303\|PubMed:15489334,ECO:0000303\|PubMed:15656992;Dbxref=PMID:14702039,PMID:15489334,PMID:15656992
Q9NX95	76	142	1	119	Alternative sequence	ID=VSP_019718;Note=In isoform 5. Missing;Ontology_term=ECO:0000303,ECO:0000303,ECO:0000303;evidence=ECO:0000303\|PubMed:14702039,ECO:0000303\|PubMed:15489334,ECO:0000303\|PubMed:15656992;Dbxref=PMID:14702039,PMID:15489334,PMID:15656992
Q9NX95	76	142	1	119	Alternative sequence	ID=VSP_019718;Note=In isoform 5. Missing;Ontology_term=ECO:0000303,ECO:0000303,ECO:0000303;evidence=ECO:0000303\|PubMed:14702039,ECO:0000303\|PubMed:15489334,ECO:0000303\|PubMed:15656992;Dbxref=PMID:14702039,PMID:15489334,PMID:15656992
Q9NX95	76	142	69	76	Alternative sequence	ID=VSP_019722;Note=In isoform 2. VSSNSFCS->MGPFWARK;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:14702039;Dbxref=PMID:14702039
Q9NX95	76	142	69	76	Alternative sequence	ID=VSP_019722;Note=In isoform 2. VSSNSFCS->MGPFWARK;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:14702039;Dbxref=PMID:14702039
Q9NX95	76	142	69	76	Alternative sequence	ID=VSP_019722;Note=In isoform 2. VSSNSFCS->MGPFWARK;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:14702039;Dbxref=PMID:14702039
Q9NX95	76	142	69	76	Alternative sequence	ID=VSP_019722;Note=In isoform 2. VSSNSFCS->MGPFWARK;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:14702039;Dbxref=PMID:14702039
Q9NX95	76	142	69	76	Alternative sequence	ID=VSP_019722;Note=In isoform 2. VSSNSFCS->MGPFWARK;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:14702039;Dbxref=PMID:14702039
Q9NX95	76	142	69	76	Alternative sequence	ID=VSP_019722;Note=In isoform 2. VSSNSFCS->MGPFWARK;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:14702039;Dbxref=PMID:14702039
Q9NX95	76	142	1	663	Chain	ID=PRO_0000050798;Note=Syntabulin
Q9NX95	76	142	1	663	Chain	ID=PRO_0000050798;Note=Syntabulin
Q9NX95	76	142	1	663	Chain	ID=PRO_0000050798;Note=Syntabulin
Q9NX95	76	142	1	663	Chain	ID=PRO_0000050798;Note=Syntabulin
Q9NX95	76	142	1	663	Chain	ID=PRO_0000050798;Note=Syntabulin
Q9NX95	76	142	1	663	Chain	ID=PRO_0000050798;Note=Syntabulin
Q9NX95	76	142	42	241	Compositional bias	Note=Ser-rich
Q9NX95	76	142	42	241	Compositional bias	Note=Ser-rich
Q9NX95	76	142	42	241	Compositional bias	Note=Ser-rich
Q9NX95	76	142	42	241	Compositional bias	Note=Ser-rich
Q9NX95	76	142	42	241	Compositional bias	Note=Ser-rich
Q9NX95	76	142	42	241	Compositional bias	Note=Ser-rich
Q9NX95	76	142	107	107	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250\|UniProtKB:Q8BHS8
Q9NX95	76	142	107	107	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250\|UniProtKB:Q8BHS8
Q9NX95	76	142	107	107	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250\|UniProtKB:Q8BHS8
Q9NX95	76	142	107	107	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250\|UniProtKB:Q8BHS8
Q9NX95	76	142	107	107	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250\|UniProtKB:Q8BHS8
Q9NX95	76	142	107	107	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250\|UniProtKB:Q8BHS8
Q9NX95	76	142	2	417	Region	Note=Sufficient for interaction with KIF5B;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:15459722;Dbxref=PMID:15459722
Q9NX95	76	142	2	417	Region	Note=Sufficient for interaction with KIF5B;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:15459722;Dbxref=PMID:15459722
Q9NX95	76	142	2	417	Region	Note=Sufficient for interaction with KIF5B;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:15459722;Dbxref=PMID:15459722
Q9NX95	76	142	2	417	Region	Note=Sufficient for interaction with KIF5B;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:15459722;Dbxref=PMID:15459722
Q9NX95	76	142	2	417	Region	Note=Sufficient for interaction with KIF5B;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:15459722;Dbxref=PMID:15459722
Q9NX95	76	142	2	417	Region	Note=Sufficient for interaction with KIF5B;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:15459722;Dbxref=PMID:15459722
Q9NX95	177	244	1	663	Chain	ID=PRO_0000050798;Note=Syntabulin
Q9NX95	177	244	1	663	Chain	ID=PRO_0000050798;Note=Syntabulin
Q9NX95	177	244	1	663	Chain	ID=PRO_0000050798;Note=Syntabulin
Q9NX95	177	244	1	663	Chain	ID=PRO_0000050798;Note=Syntabulin
Q9NX95	177	244	1	663	Chain	ID=PRO_0000050798;Note=Syntabulin
Q9NX95	177	244	1	663	Chain	ID=PRO_0000050798;Note=Syntabulin
Q9NX95	177	244	42	241	Compositional bias	Note=Ser-rich
Q9NX95	177	244	42	241	Compositional bias	Note=Ser-rich
Q9NX95	177	244	42	241	Compositional bias	Note=Ser-rich
Q9NX95	177	244	42	241	Compositional bias	Note=Ser-rich
Q9NX95	177	244	42	241	Compositional bias	Note=Ser-rich
Q9NX95	177	244	42	241	Compositional bias	Note=Ser-rich
Q9NX95	177	244	2	417	Region	Note=Sufficient for interaction with KIF5B;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:15459722;Dbxref=PMID:15459722
Q9NX95	177	244	2	417	Region	Note=Sufficient for interaction with KIF5B;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:15459722;Dbxref=PMID:15459722
Q9NX95	177	244	2	417	Region	Note=Sufficient for interaction with KIF5B;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:15459722;Dbxref=PMID:15459722
Q9NX95	177	244	2	417	Region	Note=Sufficient for interaction with KIF5B;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:15459722;Dbxref=PMID:15459722
Q9NX95	177	244	2	417	Region	Note=Sufficient for interaction with KIF5B;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:15459722;Dbxref=PMID:15459722
Q9NX95	177	244	2	417	Region	Note=Sufficient for interaction with KIF5B;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:15459722;Dbxref=PMID:15459722
Q9NX95	245	294	1	663	Chain	ID=PRO_0000050798;Note=Syntabulin
Q9NX95	245	294	1	663	Chain	ID=PRO_0000050798;Note=Syntabulin
Q9NX95	245	294	1	663	Chain	ID=PRO_0000050798;Note=Syntabulin
Q9NX95	245	294	1	663	Chain	ID=PRO_0000050798;Note=Syntabulin
Q9NX95	245	294	1	663	Chain	ID=PRO_0000050798;Note=Syntabulin
Q9NX95	245	294	1	663	Chain	ID=PRO_0000050798;Note=Syntabulin
Q9NX95	245	294	271	353	Coiled coil	Ontology_term=ECO:0000255;evidence=ECO:0000255
Q9NX95	245	294	271	353	Coiled coil	Ontology_term=ECO:0000255;evidence=ECO:0000255
Q9NX95	245	294	271	353	Coiled coil	Ontology_term=ECO:0000255;evidence=ECO:0000255
Q9NX95	245	294	271	353	Coiled coil	Ontology_term=ECO:0000255;evidence=ECO:0000255
Q9NX95	245	294	271	353	Coiled coil	Ontology_term=ECO:0000255;evidence=ECO:0000255
Q9NX95	245	294	271	353	Coiled coil	Ontology_term=ECO:0000255;evidence=ECO:0000255
Q9NX95	245	294	2	417	Region	Note=Sufficient for interaction with KIF5B;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:15459722;Dbxref=PMID:15459722
Q9NX95	245	294	2	417	Region	Note=Sufficient for interaction with KIF5B;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:15459722;Dbxref=PMID:15459722
Q9NX95	245	294	2	417	Region	Note=Sufficient for interaction with KIF5B;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:15459722;Dbxref=PMID:15459722
Q9NX95	245	294	2	417	Region	Note=Sufficient for interaction with KIF5B;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:15459722;Dbxref=PMID:15459722
Q9NX95	245	294	2	417	Region	Note=Sufficient for interaction with KIF5B;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:15459722;Dbxref=PMID:15459722
Q9NX95	245	294	2	417	Region	Note=Sufficient for interaction with KIF5B;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:15459722;Dbxref=PMID:15459722

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

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
Mayo	ENST00000433638	109645884	109646004	hsa-miR-8068	chr8:109645916-109645923	8mer-1a	chr8:109645914-109645936	153.00	-14.45
Mayo	ENST00000433638	109645884	109646004	hsa-miR-670-3p	chr8:109645909-109645916	8mer-1a	chr8:109645895-109645916	149.00	-16.57
Mayo	ENST00000433638	109645884	109646004	hsa-miR-492	chr8:109645970-109645977	8mer-1a	chr8:109645962-109645978	159.00	-22.55
Mayo	ENST00000433638	109645884	109646004	hsa-miR-22-3p	chr8:109645959-109645966	8mer-1a	chr8:109645945-109645966	157.00	-17.52
Mayo	ENST00000433638	109645884	109646004	hsa-miR-3065-5p	chr8:109645994-109646001	8mer-1a	chr8:109645980-109646002	160.00	-19.28
Mayo	ENST00000433638	109645884	109646004	hsa-miR-1207-3p	chr8:109645931-109645938	8mer-1a	chr8:109645921-109645941	149.00	-15.00
Mayo	ENST00000433638	109645884	109646004	hsa-miR-3978	chr8:109645949-109645956	8mer-1a	chr8:109645945-109645966	157.00	-17.52
MSBB	ENST00000433638	109645884	109646004	hsa-miR-8068	chr8:109645916-109645923	8mer-1a	chr8:109645914-109645936	153.00	-14.45
MSBB	ENST00000433638	109645884	109646004	hsa-miR-670-3p	chr8:109645909-109645916	8mer-1a	chr8:109645895-109645916	149.00	-16.57
MSBB	ENST00000433638	109645884	109646004	hsa-miR-492	chr8:109645970-109645977	8mer-1a	chr8:109645962-109645978	159.00	-22.55
MSBB	ENST00000433638	109645884	109646004	hsa-miR-22-3p	chr8:109645959-109645966	8mer-1a	chr8:109645945-109645966	157.00	-17.52
MSBB	ENST00000433638	109645884	109646004	hsa-miR-3065-5p	chr8:109645994-109646001	8mer-1a	chr8:109645980-109646002	160.00	-19.28
MSBB	ENST00000433638	109645884	109646004	hsa-miR-1207-3p	chr8:109645931-109645938	8mer-1a	chr8:109645921-109645941	149.00	-15.00
MSBB	ENST00000433638	109645884	109646004	hsa-miR-3978	chr8:109645949-109645956	8mer-1a	chr8:109645945-109645966	157.00	-17.52
ROSMAP	ENST00000433638	109645884	109646004	hsa-miR-8068	chr8:109645916-109645923	8mer-1a	chr8:109645914-109645936	153.00	-14.45
ROSMAP	ENST00000433638	109645884	109646004	hsa-miR-670-3p	chr8:109645909-109645916	8mer-1a	chr8:109645895-109645916	149.00	-16.57
ROSMAP	ENST00000433638	109645884	109646004	hsa-miR-492	chr8:109645970-109645977	8mer-1a	chr8:109645962-109645978	159.00	-22.55
ROSMAP	ENST00000433638	109645884	109646004	hsa-miR-22-3p	chr8:109645959-109645966	8mer-1a	chr8:109645945-109645966	157.00	-17.52
ROSMAP	ENST00000433638	109645884	109646004	hsa-miR-3065-5p	chr8:109645994-109646001	8mer-1a	chr8:109645980-109646002	160.00	-19.28
ROSMAP	ENST00000433638	109645884	109646004	hsa-miR-1207-3p	chr8:109645931-109645938	8mer-1a	chr8:109645921-109645941	149.00	-15.00
ROSMAP	ENST00000433638	109645884	109646004	hsa-miR-3978	chr8:109645949-109645956	8mer-1a	chr8:109645945-109645966	157.00	-17.52

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SNVs in the skipped exons for SYBU

- 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 SYBU

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 SYBU

sQTL information located at the skipped exons.

Tissue type	Exon skip ID	SNP id	Location	P-value	FDR
TC	exon_skip_175326	rs6469275	chr8:109648704	2.611653e-04	3.520332e-02

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Correlation with RNA binding proteins (RBPs) for SYBU

Correlated RBP and related information.

Tissue type	RBP name	Exon skip ID	Correlation coeifficient	P-value
CB	TARDBP	exon_skip_233304	-5.057763e-01	4.061461e-11
CB	CNOT4	exon_skip_233304	-5.480450e-01	3.906467e-13
CB	PCBP1	exon_skip_233304	-5.405688e-01	9.315148e-13
CB	PCBP4	exon_skip_233304	5.456522e-01	5.171211e-13
CB	TRA2A	exon_skip_233304	-5.749235e-01	1.427421e-14
CB	SNRPA	exon_skip_233304	-4.315440e-01	3.518145e-08
CB	EIF4G2	exon_skip_233304	-4.326832e-01	3.208745e-08
CB	TARDBP	exon_skip_175326	-5.224398e-01	7.025686e-12
CB	CNOT4	exon_skip_175326	-5.368601e-01	1.422251e-12
CB	PCBP1	exon_skip_175326	-4.938917e-01	1.341268e-10
CB	PCBP4	exon_skip_175326	6.260600e-01	1.062978e-17
CB	TRA2A	exon_skip_175326	-5.766957e-01	1.135380e-14
CB	SNRPA	exon_skip_175326	-4.104127e-01	1.827045e-07
CB	EIF4G2	exon_skip_175326	-4.012336e-01	3.610224e-07
CB	PTBP1	exon_skip_175326	-4.167550e-01	1.127579e-07
CB	TIA1	exon_skip_153705	5.170128e-01	3.306639e-09
CB	HNRNPDL	exon_skip_153705	5.162659e-01	3.514070e-09
CB	NUP42	exon_skip_153705	4.066082e-01	6.508690e-06
CB	PABPC1	exon_skip_153705	4.368248e-01	1.056899e-06
CB	SRSF9	exon_skip_153705	4.228459e-01	2.504710e-06
IFG	SNRPA	exon_skip_175326	4.161133e-01	4.312612e-02
IFG	SRSF1	exon_skip_175326	4.528019e-01	2.629211e-02
TC	PTBP1	exon_skip_233304	-4.120340e-01	6.229276e-07
TC	PTBP1	exon_skip_175326	-4.406329e-01	2.608346e-08
TC	SRSF2	exon_skip_153705	5.449236e-01	3.655426e-10
TC	RBM6	exon_skip_153705	-4.400150e-01	9.653340e-07
TC	G3BP2	exon_skip_153705	4.305606e-01	1.739190e-06
TC	KHDRBS2	exon_skip_153705	4.662342e-01	1.713949e-07
TC	HNRNPA0	exon_skip_153705	4.761989e-01	8.547773e-08
TC	HNRNPDL	exon_skip_153705	4.637401e-01	2.032984e-07
TC	PTBP1	exon_skip_153705	-4.388299e-01	1.040281e-06

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RelatedDrugs for SYBU

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 SYBU

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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