ExonSkipAD: functional annotation of exon skipping event in human

Gene summary for SLMAP

Gene summary

Gene information	Gene symbol	SLMAP
	Gene ID	7871
	Gene name	sarcolemma associated protein
	Synonyms	SLAP
	Cytomap	3p14.3
	Type of gene	protein-coding
	Description	sarcolemmal membrane-associated protein
	Modification date	20200313
	UniProtAcc	A0A590UJ16, A0A590UJ91, A0A590UJG7, A0A590UJH8, A0A590UJK3, A0A590UJP6, A0A590UJS6, A0A590UJT5, A0A590UJU9, A0A590UK66, A0A5F9VB99, B7Z964, H7BZK0, H7BZW9, H7C3M8, H7C5G9, H7C5S2, Q14BN4,
	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 SLMAP

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.

ENSG00000163681

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

Tissue type

DEG direction

Base mean exp.

log2FC(AD/control)

P-value

Adj. p-value

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

Tissue type	DEG direction	ENST	Transcript info.	Base mean exp.	log2FC(AD/control)	P-value	Adjc. p-value
PG	UP	ENST00000481846.1	SLMAP-218:lncRNA:SLMAP	4.824708e+00	2.500640e+00	1.303019e-05	6.139825e-04
PG	UP	ENST00000428312.6	SLMAP-206:protein_coding:SLMAP	1.046105e+02	1.032550e+00	3.052296e-03	3.221153e-02
PG	DOWN	ENST00000461354.5	SLMAP-211:retained_intron:SLMAP	3.416149e+00	-1.022832e+00	4.948987e-03	4.536074e-02
CB	UP	ENST00000428312.6	SLMAP-206:protein_coding:SLMAP	2.008524e+02	9.310845e-01	5.857445e-05	4.704150e-04
CB	UP	ENST00000416658.5	SLMAP-204:protein_coding:SLMAP	6.150231e+00	2.365146e+00	6.537279e-05	5.161502e-04
CB	UP	ENST00000295951.7	SLMAP-201:protein_coding:SLMAP	1.223376e+02	1.258000e+00	1.720707e-04	1.172232e-03
CB	UP	ENST00000655012.1	SLMAP-222:nonsense_mediated_decay:SLMAP	1.094081e+01	8.292604e-01	2.192119e-04	1.439561e-03
CB	UP	ENST00000449503.6	SLMAP-208:protein_coding:SLMAP	1.934505e+02	1.240907e+00	1.345085e-03	6.625901e-03
CB	UP	ENST00000461354.5	SLMAP-211:retained_intron:SLMAP	2.495333e+00	1.064699e+00	1.353722e-03	6.661070e-03
CB	UP	ENST00000459654.5	SLMAP-209:retained_intron:SLMAP	8.846074e-01	1.234449e+00	1.269610e-02	4.220649e-02
TC	UP	ENST00000428312.6	SLMAP-206:protein_coding:SLMAP	3.138769e+02	9.610821e-01	1.466275e-08	1.241964e-06

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 SLMAP

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_102782	chr3	57864816:57864857:57871636:57871698:57890041:57890100	57871636:57871698
exon_skip_103324	chr3	57858088:57858159:57860699:57860839:57861949:57862086	57860699:57860839
exon_skip_115608	chr3	57916981:57917077:57922889:57923023:57925845:57925934	57922889:57923023
exon_skip_117084	chr3	57864557:57864716:57865242:57865292:57890041:57890100	57865242:57865292
exon_skip_118212	chr3	57864586:57864716:57890041:57890100:57896511:57896590	57890041:57890100
exon_skip_12386	chr3	57864807:57864857:57865242:57865292:57890041:57890100	57865242:57865292
exon_skip_127579	chr3	57864586:57864716:57865242:57865292:57871636:57871698	57865242:57865292
exon_skip_131713	chr3	57896881:57896932:57909076:57909150:57912381:57912435	57909076:57909150
exon_skip_136580	chr3	57896519:57896591:57896873:57896932:57909076:57909150	57896873:57896932
exon_skip_164521	chr3	57864586:57864716:57864807:57864857:57890046:57891206	57864807:57864857
exon_skip_168473	chr3	57864586:57864716:57865242:57865292:57890041:57890100	57865242:57865292
exon_skip_17334	chr3	57864807:57864857:57871636:57871698:57890041:57890100	57871636:57871698
exon_skip_17438	chr3	57896873:57896932:57909076:57909150:57912381:57912688	57909076:57909150
exon_skip_189044	chr3	57864586:57864716:57864807:57864857:57865242:57865292	57864807:57864857
exon_skip_194050	chr3	57865242:57865292:57871636:57871698:57890041:57890100	57871636:57871698
exon_skip_195905	chr3	57849754:57849816:57856560:57856648:57857733:57857824	57856560:57856648
exon_skip_20475	chr3	57916981:57917077:57922889:57923023:57927296:57927388	57922889:57923023
exon_skip_206612	chr3	57864586:57864716:57864807:57864857:57890041:57890100	57864807:57864857
exon_skip_20880	chr3	57831383:57831530:57841299:57841371:57847197:57847233	57841299:57841371
exon_skip_215289	chr3	57907895:57908006:57908168:57908227:57909076:57909150	57908168:57908227
exon_skip_225835	chr3	57916965:57917077:57922889:57923023:57925845:57925934	57922889:57923023
exon_skip_238177	chr3	57864586:57864716:57871636:57871698:57890041:57890100	57871636:57871698
exon_skip_243661	chr3	57864586:57864716:57890041:57890100:57896511:57896591	57890041:57890100
exon_skip_24484	chr3	57871636:57871698:57890041:57890100:57896511:57896590	57890041:57890100
exon_skip_246274	chr3	57896881:57896932:57907884:57908006:57909076:57909140	57907884:57908006
exon_skip_252919	chr3	57864586:57864716:57864807:57864857:57871636:57871698	57864807:57864857
exon_skip_254879	chr3	57864816:57864857:57865242:57865292:57871636:57871698	57865242:57865292
exon_skip_261366	chr3	57849754:57849816:57856560:57856648:57857733:57857828	57856560:57856648
exon_skip_282564	chr3	57907884:57908006:57908168:57908227:57909076:57909150	57908168:57908227
exon_skip_288752	chr3	57757120:57757849:57820613:57820705:57831383:57831530	57820613:57820705
exon_skip_293732	chr3	57907884:57908006:57909076:57909150:57912381:57912435	57909076:57909150
exon_skip_294381	chr3	57864807:57864857:57890041:57890100:57896511:57896590	57890041:57890100
exon_skip_30478	chr3	57864807:57864857:57883961:57884026:57890041:57890100	57883961:57884026
exon_skip_33308	chr3	57922889:57923023:57925845:57925934:57927296:57927388	57925845:57925934
exon_skip_38611	chr3	57896881:57896932:57907884:57908006:57909076:57909150	57907884:57908006
exon_skip_44440	chr3	57864807:57864857:57865242:57865292:57871636:57871698	57865242:57865292
exon_skip_56489	chr3	57916981:57917077:57925845:57925934:57927296:57927388	57925845:57925934
exon_skip_73895	chr3	57864557:57864716:57865242:57865292:57871636:57871698	57865242:57865292
exon_skip_75090	chr3	57890057:57890100:57896247:57896371:57896511:57896590	57896247:57896371
exon_skip_85481	chr3	57864557:57864716:57864807:57864857:57865242:57865292	57864807:57864857
exon_skip_95952	chr3	57864816:57864857:57865242:57865292:57890041:57890100	57865242:57865292

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_38611	ROSMAP_PCC	6.062602e-01	7.115663e-01	-1.053061e-01	2.729438e-04
exon_skip_38611	MSBB_PG	5.006977e-01	6.834694e-01	-1.827717e-01	6.552120e-05
exon_skip_206612	Mayo_CB	2.211538e-01	3.418644e-01	-1.207106e-01	1.598824e-08
exon_skip_33308	Mayo_CB	5.296341e-01	6.446479e-01	-1.150137e-01	5.479682e-07

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

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
ENST00000428312	57841299	57841371	Frame-shift
ENST00000428312	57860699	57860839	In-frame
ENST00000428312	57890041	57890100	In-frame
ENST00000428312	57896873	57896932	In-frame
ENST00000428312	57909076	57909150	In-frame
ENST00000428312	57922889	57923023	In-frame
ENST00000428312	57925845	57925934	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
ENST00000428312	57890041	57890100	In-frame
ENST00000428312	57925845	57925934	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
ENST00000428312	57841299	57841371	Frame-shift
ENST00000428312	57860699	57860839	In-frame
ENST00000428312	57890041	57890100	In-frame
ENST00000428312	57909076	57909150	In-frame
ENST00000428312	57922889	57923023	In-frame
ENST00000428312	57925845	57925934	In-frame

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

p-ENSG00000163681_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
ENST00000428312	4149	828	57860699	57860839	783	922	229	276
ENST00000428312	4149	828	57890041	57890100	1345	1403	417	436
ENST00000428312	4149	828	57896873	57896932	1486	1544	464	483
ENST00000428312	4149	828	57909076	57909150	1669	1742	525	549
ENST00000428312	4149	828	57922889	57923023	2355	2488	753	798

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
ENST00000428312	4149	828	57890041	57890100	1345	1403	417	436

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
ENST00000428312	4149	828	57860699	57860839	783	922	229	276
ENST00000428312	4149	828	57890041	57890100	1345	1403	417	436
ENST00000428312	4149	828	57909076	57909150	1669	1742	525	549
ENST00000428312	4149	828	57922889	57923023	2355	2488	753	798

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
Q14BN4	229	276	1	466	Alternative sequence	ID=VSP_021499;Note=In isoform 5 and isoform 8. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303\|PubMed:10986292,ECO:0000303\|PubMed:17974005;Dbxref=PMID:10986292,PMID:17974005
Q14BN4	229	276	1	348	Alternative sequence	ID=VSP_021500;Note=In isoform 4. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:11042152;Dbxref=PMID:11042152
Q14BN4	229	276	1	828	Chain	ID=PRO_0000259662;Note=Sarcolemmal membrane-associated protein
Q14BN4	229	276	230	388	Coiled coil	Ontology_term=ECO:0000255;evidence=ECO:0000255
Q14BN4	229	276	1	802	Topological domain	Note=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q14BN4	417	436	1	466	Alternative sequence	ID=VSP_021499;Note=In isoform 5 and isoform 8. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303\|PubMed:10986292,ECO:0000303\|PubMed:17974005;Dbxref=PMID:10986292,PMID:17974005
Q14BN4	417	436	379	436	Alternative sequence	ID=VSP_021501;Note=In isoform 4. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:11042152;Dbxref=PMID:11042152
Q14BN4	417	436	379	417	Alternative sequence	ID=VSP_021502;Note=In isoform 2. VRLEHLQEKTLKECSSLEHLLSKSGGDCTFIHQFIECQK->E;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:15489334;Dbxref=PMID:15489334
Q14BN4	417	436	396	428	Alternative sequence	ID=VSP_021504;Note=In isoform 7. EHLLSKSGGDCTFIHQFIECQKKLIVEGHLTKA->ADRRRASNQSGRRNKAFKRFVFCFSMFFDSSFG;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:12975309;Dbxref=PMID:12975309
Q14BN4	417	436	396	417	Alternative sequence	ID=VSP_021505;Note=In isoform 6. EHLLSKSGGDCTFIHQFIECQK->GIQVDDFLPKINGSTEKE;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:14702039;Dbxref=PMID:14702039
Q14BN4	417	436	429	828	Alternative sequence	ID=VSP_021506;Note=In isoform 7. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:12975309;Dbxref=PMID:12975309
Q14BN4	417	436	1	828	Chain	ID=PRO_0000259662;Note=Sarcolemmal membrane-associated protein
Q14BN4	417	436	1	802	Topological domain	Note=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q14BN4	464	483	1	466	Alternative sequence	ID=VSP_021499;Note=In isoform 5 and isoform 8. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303\|PubMed:10986292,ECO:0000303\|PubMed:17974005;Dbxref=PMID:10986292,PMID:17974005
Q14BN4	464	483	429	828	Alternative sequence	ID=VSP_021506;Note=In isoform 7. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:12975309;Dbxref=PMID:12975309
Q14BN4	464	483	1	828	Chain	ID=PRO_0000259662;Note=Sarcolemmal membrane-associated protein
Q14BN4	464	483	477	799	Coiled coil	Ontology_term=ECO:0000255;evidence=ECO:0000255
Q14BN4	464	483	1	802	Topological domain	Note=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q14BN4	525	549	429	828	Alternative sequence	ID=VSP_021506;Note=In isoform 7. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:12975309;Dbxref=PMID:12975309
Q14BN4	525	549	511	828	Alternative sequence	ID=VSP_021509;Note=In isoform 6. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:14702039;Dbxref=PMID:14702039
Q14BN4	525	549	1	828	Chain	ID=PRO_0000259662;Note=Sarcolemmal membrane-associated protein
Q14BN4	525	549	477	799	Coiled coil	Ontology_term=ECO:0000255;evidence=ECO:0000255
Q14BN4	525	549	1	802	Topological domain	Note=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q14BN4	753	798	429	828	Alternative sequence	ID=VSP_021506;Note=In isoform 7. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:12975309;Dbxref=PMID:12975309
Q14BN4	753	798	511	828	Alternative sequence	ID=VSP_021509;Note=In isoform 6. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:14702039;Dbxref=PMID:14702039
Q14BN4	753	798	754	778	Alternative sequence	ID=VSP_021510;Note=In isoform 8. YEKTQTVLSELKLKFEMTEQEKQSI->VKRKDIMSPIMVGLKAKSKSDIHAS;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:17974005;Dbxref=PMID:17974005
Q14BN4	753	798	779	828	Alternative sequence	ID=VSP_021511;Note=In isoform 8. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:17974005;Dbxref=PMID:17974005
Q14BN4	753	798	798	798	Alternative sequence	ID=VSP_021512;Note=In isoform 4. N->NPSILQPVPARIHRPIPGFPDMVIRSIVERK;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:11042152;Dbxref=PMID:11042152
Q14BN4	753	798	1	828	Chain	ID=PRO_0000259662;Note=Sarcolemmal membrane-associated protein
Q14BN4	753	798	477	799	Coiled coil	Ontology_term=ECO:0000255;evidence=ECO:0000255
Q14BN4	753	798	1	802	Topological domain	Note=Cytoplasmic;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
Q14BN4	417	436	1	466	Alternative sequence	ID=VSP_021499;Note=In isoform 5 and isoform 8. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303\|PubMed:10986292,ECO:0000303\|PubMed:17974005;Dbxref=PMID:10986292,PMID:17974005
Q14BN4	417	436	379	436	Alternative sequence	ID=VSP_021501;Note=In isoform 4. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:11042152;Dbxref=PMID:11042152
Q14BN4	417	436	379	417	Alternative sequence	ID=VSP_021502;Note=In isoform 2. VRLEHLQEKTLKECSSLEHLLSKSGGDCTFIHQFIECQK->E;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:15489334;Dbxref=PMID:15489334
Q14BN4	417	436	396	428	Alternative sequence	ID=VSP_021504;Note=In isoform 7. EHLLSKSGGDCTFIHQFIECQKKLIVEGHLTKA->ADRRRASNQSGRRNKAFKRFVFCFSMFFDSSFG;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:12975309;Dbxref=PMID:12975309
Q14BN4	417	436	396	417	Alternative sequence	ID=VSP_021505;Note=In isoform 6. EHLLSKSGGDCTFIHQFIECQK->GIQVDDFLPKINGSTEKE;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:14702039;Dbxref=PMID:14702039
Q14BN4	417	436	429	828	Alternative sequence	ID=VSP_021506;Note=In isoform 7. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:12975309;Dbxref=PMID:12975309
Q14BN4	417	436	1	828	Chain	ID=PRO_0000259662;Note=Sarcolemmal membrane-associated protein
Q14BN4	417	436	1	802	Topological domain	Note=Cytoplasmic;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
Q14BN4	229	276	1	466	Alternative sequence	ID=VSP_021499;Note=In isoform 5 and isoform 8. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303\|PubMed:10986292,ECO:0000303\|PubMed:17974005;Dbxref=PMID:10986292,PMID:17974005
Q14BN4	229	276	1	348	Alternative sequence	ID=VSP_021500;Note=In isoform 4. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:11042152;Dbxref=PMID:11042152
Q14BN4	229	276	1	828	Chain	ID=PRO_0000259662;Note=Sarcolemmal membrane-associated protein
Q14BN4	229	276	230	388	Coiled coil	Ontology_term=ECO:0000255;evidence=ECO:0000255
Q14BN4	229	276	1	802	Topological domain	Note=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q14BN4	417	436	1	466	Alternative sequence	ID=VSP_021499;Note=In isoform 5 and isoform 8. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303\|PubMed:10986292,ECO:0000303\|PubMed:17974005;Dbxref=PMID:10986292,PMID:17974005
Q14BN4	417	436	379	436	Alternative sequence	ID=VSP_021501;Note=In isoform 4. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:11042152;Dbxref=PMID:11042152
Q14BN4	417	436	379	417	Alternative sequence	ID=VSP_021502;Note=In isoform 2. VRLEHLQEKTLKECSSLEHLLSKSGGDCTFIHQFIECQK->E;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:15489334;Dbxref=PMID:15489334
Q14BN4	417	436	396	428	Alternative sequence	ID=VSP_021504;Note=In isoform 7. EHLLSKSGGDCTFIHQFIECQKKLIVEGHLTKA->ADRRRASNQSGRRNKAFKRFVFCFSMFFDSSFG;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:12975309;Dbxref=PMID:12975309
Q14BN4	417	436	396	417	Alternative sequence	ID=VSP_021505;Note=In isoform 6. EHLLSKSGGDCTFIHQFIECQK->GIQVDDFLPKINGSTEKE;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:14702039;Dbxref=PMID:14702039
Q14BN4	417	436	429	828	Alternative sequence	ID=VSP_021506;Note=In isoform 7. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:12975309;Dbxref=PMID:12975309
Q14BN4	417	436	1	828	Chain	ID=PRO_0000259662;Note=Sarcolemmal membrane-associated protein
Q14BN4	417	436	1	802	Topological domain	Note=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q14BN4	525	549	429	828	Alternative sequence	ID=VSP_021506;Note=In isoform 7. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:12975309;Dbxref=PMID:12975309
Q14BN4	525	549	511	828	Alternative sequence	ID=VSP_021509;Note=In isoform 6. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:14702039;Dbxref=PMID:14702039
Q14BN4	525	549	1	828	Chain	ID=PRO_0000259662;Note=Sarcolemmal membrane-associated protein
Q14BN4	525	549	477	799	Coiled coil	Ontology_term=ECO:0000255;evidence=ECO:0000255
Q14BN4	525	549	1	802	Topological domain	Note=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q14BN4	753	798	429	828	Alternative sequence	ID=VSP_021506;Note=In isoform 7. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:12975309;Dbxref=PMID:12975309
Q14BN4	753	798	511	828	Alternative sequence	ID=VSP_021509;Note=In isoform 6. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:14702039;Dbxref=PMID:14702039
Q14BN4	753	798	754	778	Alternative sequence	ID=VSP_021510;Note=In isoform 8. YEKTQTVLSELKLKFEMTEQEKQSI->VKRKDIMSPIMVGLKAKSKSDIHAS;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:17974005;Dbxref=PMID:17974005
Q14BN4	753	798	779	828	Alternative sequence	ID=VSP_021511;Note=In isoform 8. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:17974005;Dbxref=PMID:17974005
Q14BN4	753	798	798	798	Alternative sequence	ID=VSP_021512;Note=In isoform 4. N->NPSILQPVPARIHRPIPGFPDMVIRSIVERK;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:11042152;Dbxref=PMID:11042152
Q14BN4	753	798	1	828	Chain	ID=PRO_0000259662;Note=Sarcolemmal membrane-associated protein
Q14BN4	753	798	477	799	Coiled coil	Ontology_term=ECO:0000255;evidence=ECO:0000255
Q14BN4	753	798	1	802	Topological domain	Note=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255

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

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 SLMAP

- 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 SLMAP

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

CDR

MSBB

IFG

exon_skip_261366

4.026090e-01

3.366130e-02

chr3

57849754

57849816

57856560

57856648

57857733

57857828

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

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 SLMAP

Correlated RBP and related information.

Tissue type	RBP name	Exon skip ID	Correlation coeifficient	P-value
CB	DAZAP1	exon_skip_103324	-4.060187e-01	4.046083e-07
CB	ZNF638	exon_skip_103324	-4.796574e-01	1.033449e-09
CB	CNOT4	exon_skip_103324	-5.927807e-01	4.000682e-15
CB	TRA2A	exon_skip_103324	-5.180676e-01	2.495345e-11
CB	RBM45	exon_skip_103324	5.902874e-01	5.556399e-15
CB	HNRNPAB	exon_skip_103324	-4.480593e-01	1.594042e-08
CB	NUP42	exon_skip_103324	4.385761e-01	3.436993e-08
CB	NUP42	exon_skip_206612	5.610134e-01	1.001737e-12
CB	RBM3	exon_skip_168473	5.535632e-01	5.815551e-12
CB	TRA2A	exon_skip_168473	-4.832230e-01	4.394426e-09
CB	NUP42	exon_skip_168473	5.613247e-01	2.537490e-12
CB	PABPC1	exon_skip_168473	4.048076e-01	1.476653e-06
CB	TRA2A	exon_skip_238177	-4.236907e-01	3.378696e-07
CB	HNRNPK	exon_skip_38611	4.701646e-01	1.275465e-09
CB	RALYL	exon_skip_38611	5.794911e-01	7.890642e-15
CB	SRSF9	exon_skip_38611	4.177148e-01	1.047251e-07
CB	RC3H1	exon_skip_33308	-4.383098e-01	1.457478e-08
DLPFC	KHDRBS2	exon_skip_38611	5.972814e-01	4.857606e-29
FL	SRSF11	exon_skip_75090	-4.279378e-01	4.370324e-10
FL	PCBP2	exon_skip_75090	-4.473675e-01	5.500655e-11
FL	RC3H1	exon_skip_75090	-4.095764e-01	2.755404e-09
FL	KHDRBS2	exon_skip_75090	-4.230164e-01	7.237495e-10
FL	FUBP1	exon_skip_75090	-4.516984e-01	3.403365e-11
FL	ENOX1	exon_skip_75090	-4.203058e-01	9.522588e-10
FL	SART3	exon_skip_75090	-4.689548e-01	4.692429e-12
FL	RBM4	exon_skip_75090	-4.139774e-01	1.790111e-09
FL	MSI1	exon_skip_38611	-5.046709e-01	3.229632e-13
FL	HNRNPK	exon_skip_38611	4.585976e-01	6.642130e-11
FL	KHDRBS3	exon_skip_38611	5.789295e-01	9.145928e-18
FL	RALYL	exon_skip_38611	5.276632e-01	1.653800e-14
FL	HNRNPL	exon_skip_38611	4.529900e-01	1.205030e-10
FL	SRSF9	exon_skip_38611	4.111248e-01	7.418627e-09
FL	ILF2	exon_skip_33308	-4.383412e-01	4.365613e-10
FL	HNRNPK	exon_skip_33308	-4.439666e-01	2.454080e-10
FL	NOVA1	exon_skip_33308	-4.349147e-01	6.168649e-10
HCC	MSI1	exon_skip_38611	-7.215344e-01	7.575034e-45
HCC	PABPN1	exon_skip_38611	-6.044417e-01	2.205207e-28
HCC	RBM5	exon_skip_38611	-6.731727e-01	3.968945e-37
HCC	IGF2BP2	exon_skip_38611	-4.271809e-01	1.905118e-13
HCC	PCBP1	exon_skip_38611	-4.926658e-01	5.614043e-18
HCC	UNK	exon_skip_38611	-5.984954e-01	1.005393e-27
HCC	KHDRBS3	exon_skip_38611	-6.213689e-01	2.454709e-30
HCC	ENOX1	exon_skip_38611	-4.574144e-01	2.034204e-15
HCC	PABPC5	exon_skip_38611	-4.274503e-01	1.833175e-13
HCC	PABPC1	exon_skip_38611	-4.644514e-01	6.619278e-16
HCC	SART3	exon_skip_38611	-4.163265e-01	8.734326e-13
HCC	RBM6	exon_skip_33308	6.780013e-01	5.754932e-38
HCC	PCBP1	exon_skip_33308	4.979907e-01	1.878189e-18
HCC	PCBP4	exon_skip_33308	4.841048e-01	2.184555e-17
HCC	TRA2A	exon_skip_33308	4.047407e-01	3.816750e-12
HCC	PCBP2	exon_skip_33308	4.307037e-01	1.034704e-13
HCC	SF1	exon_skip_33308	5.282637e-01	5.958662e-21
HCC	PTBP1	exon_skip_33308	7.569570e-01	8.233368e-52
IFG	SRSF2	exon_skip_252919	4.463346e-01	3.732240e-02
IFG	CNOT4	exon_skip_44440	-4.577715e-01	2.139068e-02
IFG	PABPC5	exon_skip_44440	-4.360863e-01	2.931531e-02
IFG	PABPC1	exon_skip_44440	-4.013115e-01	4.677746e-02
IFG	PABPC4	exon_skip_44440	-4.047032e-01	4.478073e-02
IFG	DAZAP1	exon_skip_75090	-4.280850e-01	2.305078e-02
IFG	RBM25	exon_skip_75090	-5.191865e-01	4.638603e-03
IFG	TRA2A	exon_skip_75090	-4.419135e-01	1.855029e-02
IFG	RC3H1	exon_skip_75090	-4.518133e-01	1.579458e-02
IFG	SF1	exon_skip_75090	-4.289889e-01	2.273168e-02
IFG	HNRNPD	exon_skip_75090	-4.619137e-01	1.334102e-02
IFG	PABPC1	exon_skip_75090	-4.630139e-01	1.309407e-02
IFG	IGF2BP2	exon_skip_38611	-5.230277e-01	5.121603e-03
IFG	RALYL	exon_skip_38611	4.711654e-01	1.311149e-02
IFG	PTBP1	exon_skip_33308	4.119179e-01	2.940383e-02
PCC	RBM3	exon_skip_254879	4.665285e-01	1.030142e-11
PCC	FXR2	exon_skip_75090	-4.065825e-01	1.102786e-09
PCC	ILF2	exon_skip_75090	-4.026440e-01	1.648058e-09
PCC	MSI1	exon_skip_38611	-5.499187e-01	1.118786e-17
PCC	RALYL	exon_skip_38611	4.384116e-01	4.375123e-11
PCC	PABPC1	exon_skip_38611	-4.644415e-01	2.037783e-12
PCC	RBM6	exon_skip_33308	4.567210e-01	2.541753e-12
PCC	PCBP4	exon_skip_33308	5.157238e-01	8.361760e-16
PCC	PTBP1	exon_skip_33308	6.414824e-01	5.670853e-26
PG	MSI1	exon_skip_38611	-4.722548e-01	2.832097e-11
PG	PCBP1	exon_skip_38611	4.652725e-01	6.010555e-11
PG	HNRNPK	exon_skip_38611	4.130299e-01	1.006832e-08
PG	KHDRBS2	exon_skip_38611	4.994727e-01	1.274193e-12
PG	KHDRBS3	exon_skip_38611	4.785094e-01	1.422407e-11
PG	RALYL	exon_skip_38611	5.876958e-01	6.480229e-18
PG	PCBP1	exon_skip_33308	-4.281192e-01	3.385344e-08
PG	ILF2	exon_skip_33308	-4.843159e-01	2.254221e-10
PG	HNRNPK	exon_skip_33308	-4.706013e-01	8.338452e-10
PG	PTBP1	exon_skip_33308	4.950276e-01	7.788883e-11
PG	NOVA1	exon_skip_33308	-5.060236e-01	2.516445e-11
STG	KHDRBS2	exon_skip_38611	4.164122e-01	1.220726e-04
STG	KHDRBS3	exon_skip_38611	5.241571e-01	6.038789e-07
STG	RALYL	exon_skip_38611	5.744298e-01	2.526594e-08
STG	PTBP1	exon_skip_33308	4.511493e-01	3.824163e-05
STG	NOVA1	exon_skip_33308	-4.355247e-01	7.534511e-05
TC	RBM3	exon_skip_44440	5.330297e-01	1.446814e-09
TC	MBNL1	exon_skip_246274	4.957742e-01	7.222900e-11
TC	HNRNPK	exon_skip_246274	4.663429e-01	1.237178e-09
TC	KHDRBS2	exon_skip_246274	7.914983e-01	4.190035e-34
TC	KHDRBS3	exon_skip_246274	7.358242e-01	2.388876e-27
TC	NUP42	exon_skip_246274	6.748047e-01	1.136077e-21
TC	RALYL	exon_skip_246274	8.091151e-01	1.094428e-36
TC	SRSF9	exon_skip_246274	4.457340e-01	7.749438e-09
TC	ELAVL1	exon_skip_33308	-4.019189e-01	1.511429e-07
TC	ILF2	exon_skip_33308	-5.705053e-01	4.147941e-15
TC	HNRNPK	exon_skip_33308	-4.424461e-01	5.244360e-09
TC	HNRNPD	exon_skip_33308	-6.387182e-01	1.329283e-19
TC	NUP42	exon_skip_33308	-7.089908e-01	1.370073e-25
TC	PTBP1	exon_skip_33308	4.038006e-01	1.305550e-07
TC	PTBP3	exon_skip_33308	-5.088877e-01	7.437781e-12
TC	NOVA1	exon_skip_33308	-6.897614e-01	8.791294e-24

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RelatedDrugs for SLMAP

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 SLMAP

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 SLMAP

Gene structures and expression levels for SLMAP

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

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

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

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

SNVs in the skipped exons for SLMAP

AD stage-associated exon skippint events for SLMAP

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

Correlation with RNA binding proteins (RBPs) for SLMAP

RelatedDrugs for SLMAP

RelatedDiseases for SLMAP