ExonSkipDB: functional annotation of exon skipping event in human

Gene summary for SLAIN2

Gene summary

Gene information	Gene symbol	SLAIN2
	Gene ID	57606
	Gene name	SLAIN motif family member 2
	Synonyms	KIAA1458
	Cytomap	4p11
	Type of gene	protein-coding
	Description	SLAIN motif-containing protein 2
	Modification date	20180519
	UniProtAcc	Q9P270
	Context	PubMed: SLAIN2 [Title/Abstract] AND exon [Title/Abstract] AND skip [Title/Abstract] - Title (PMID)

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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Exon skipping events across known transcript of Ensembl for SLAIN2 from UCSC genome browser

Skipped exons in TCGA and GTEx 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.

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Gene isoform structures and expression levels for SLAIN2

Expression levels of gene isoforms across TCGA.

Expression levels of gene isoforms across GTEx.

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Exon skipping events with PSIs in TCGA for SLAIN2

Information of exkip skipping event in TCGA.

Exon skip ID	chr	Exons involved in exon skipping	Skipped exon	ENSG	ENSTs
exon_skip_423419	4	48371865:48372014:48379912:48380077:48381706:48381741	48379912:48380077	ENSG00000109171.10	ENST00000506375.1,ENST00000264313.6
exon_skip_423424	4	48379917:48380077:48381706:48381865:48384584:48384656	48381706:48381865	ENSG00000109171.10	ENST00000264313.6,ENST00000512093.1
exon_skip_423425	4	48381843:48381865:48384584:48384656:48384744:48384944	48384584:48384656	ENSG00000109171.10	ENST00000505131.1
exon_skip_423426	4	48381843:48381865:48384584:48384944:48385663:48385801	48384584:48384944	ENSG00000109171.10	ENST00000264313.6,ENST00000512093.1
exon_skip_423429	4	48385694:48385801:48389382:48389483:48396592:48396647	48389382:48389483	ENSG00000109171.10	ENST00000505131.1
exon_skip_423430	4	48385694:48385801:48396592:48396670:48422141:48422460	48396592:48396670	ENSG00000109171.10	ENST00000512093.1,ENST00000510595.1
exon_skip_423431	4	48385694:48385801:48422141:48422460:48424027:48427032	48422141:48422460	ENSG00000109171.10	ENST00000264313.6

PSI values of skipped exons in TCGA.

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Exon skipping events with PSIs in GTEx for SLAIN2

Information of exkip skipping event in GTEx

Exon skip ID	chr	Exons involved in exon skipping	Skipped exon	ENSG	ENSTs
exon_skip_423419	4	48371865:48372014:48379912:48380077:48381706:48381741	48379912:48380077	ENSG00000109171.10	ENST00000264313.6,ENST00000506375.1
exon_skip_423424	4	48379917:48380077:48381706:48381865:48384584:48384656	48381706:48381865	ENSG00000109171.10	ENST00000264313.6,ENST00000512093.1
exon_skip_423425	4	48381843:48381865:48384584:48384656:48384744:48384944	48384584:48384656	ENSG00000109171.10	ENST00000505131.1
exon_skip_423426	4	48381843:48381865:48384584:48384944:48385663:48385801	48384584:48384944	ENSG00000109171.10	ENST00000264313.6,ENST00000512093.1
exon_skip_423429	4	48385694:48385801:48389382:48389483:48396592:48396647	48389382:48389483	ENSG00000109171.10	ENST00000505131.1
exon_skip_423430	4	48385694:48385801:48396592:48396670:48422141:48422460	48396592:48396670	ENSG00000109171.10	ENST00000512093.1,ENST00000510595.1
exon_skip_423431	4	48385694:48385801:48422141:48422460:48424027:48427032	48422141:48422460	ENSG00000109171.10	ENST00000264313.6

PSI values of skipped exons in GTEx.

* Skipped exon sequences.

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Open reading frame (ORF) annotation in the exon skipping event for SLAIN2

Open reading frame (ORF) of individual exon skipping events in TCGA based on the Ensembl gene structure combined from isoforms.

ENST	Start of skipped exon	End of skipped exon	ORF
ENST00000264313	48422141	48422460	Frame-shift
ENST00000264313	48379912	48380077	In-frame
ENST00000264313	48381706	48381865	In-frame
ENST00000264313	48384584	48384944	In-frame

Open reading frame (ORF) of individual exon skipping events in GTEx based on the Ensembl gene structure combined from isoforms.

ENST	Start of skipped exon	End of skipped exon	ORF
ENST00000264313	48422141	48422460	Frame-shift
ENST00000264313	48379912	48380077	In-frame
ENST00000264313	48381706	48381865	In-frame
ENST00000264313	48384584	48384944	In-frame

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Infer the effects of exon skipping event on protein functional features for SLAIN2

Exon skipping at the protein sequence level and followed lost functional features.
* Click on the image to enlarge it in a new window.

Loci of skipped exons in TCGA 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
ENST00000264313	6316	581	48379912	48380077	957	1121	179	234
ENST00000264313	6316	581	48381706	48381865	1122	1280	234	287
ENST00000264313	6316	581	48384584	48384944	1281	1640	287	407

Loci of skipped exons in GTEx 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
ENST00000264313	6316	581	48379912	48380077	957	1121	179	234
ENST00000264313	6316	581	48381706	48381865	1122	1280	234	287
ENST00000264313	6316	581	48384584	48384944	1281	1640	287	407

Lost protein functional features of individual exon skipping events in TCGA.

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
Q9P270	179	234	1	581	Chain	ID=PRO_0000316965;Note=SLAIN motif-containing protein 2
Q9P270	179	234	179	179	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000244;evidence=ECO:0000244\|PubMed:18669648,ECO:0000244\|PubMed:23186163;Dbxref=PMID:18669648,PMID:23186163
Q9P270	179	234	233	233	Sequence conflict	Note=N->D;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q9P270	234	287	1	581	Chain	ID=PRO_0000316965;Note=SLAIN motif-containing protein 2
Q9P270	234	287	247	247	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000244;evidence=ECO:0000244\|PubMed:18669648,ECO:0000244\|PubMed:23186163;Dbxref=PMID:18669648,PMID:23186163
Q9P270	234	287	250	250	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244\|PubMed:18669648;Dbxref=PMID:18669648
Q9P270	234	287	251	251	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244\|PubMed:18669648;Dbxref=PMID:18669648
Q9P270	234	287	254	254	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244\|PubMed:18669648;Dbxref=PMID:18669648
Q9P270	287	407	1	581	Chain	ID=PRO_0000316965;Note=SLAIN motif-containing protein 2
Q9P270	287	407	315	315	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244\|PubMed:23186163;Dbxref=PMID:23186163
Q9P270	287	407	323	323	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000244;evidence=ECO:0000244\|PubMed:18669648,ECO:0000244\|PubMed:23186163;Dbxref=PMID:18669648,PMID:23186163
Q9P270	287	407	377	377	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000244;evidence=ECO:0000244\|PubMed:18669648,ECO:0000244\|PubMed:23186163;Dbxref=PMID:18669648,PMID:23186163
Q9P270	287	407	391	391	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000244,ECO:0000244;evidence=ECO:0000244\|PubMed:20068231,ECO:0000244\|PubMed:23186163,ECO:0000244\|PubMed:24275569;Dbxref=PMID:20068231,PMID:23186163,PMID:24275569

Lost protein functional features of individual exon skipping events in GTEx.

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
Q9P270	179	234	1	581	Chain	ID=PRO_0000316965;Note=SLAIN motif-containing protein 2
Q9P270	179	234	179	179	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000244;evidence=ECO:0000244\|PubMed:18669648,ECO:0000244\|PubMed:23186163;Dbxref=PMID:18669648,PMID:23186163
Q9P270	179	234	233	233	Sequence conflict	Note=N->D;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q9P270	234	287	1	581	Chain	ID=PRO_0000316965;Note=SLAIN motif-containing protein 2
Q9P270	234	287	247	247	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000244;evidence=ECO:0000244\|PubMed:18669648,ECO:0000244\|PubMed:23186163;Dbxref=PMID:18669648,PMID:23186163
Q9P270	234	287	250	250	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244\|PubMed:18669648;Dbxref=PMID:18669648
Q9P270	234	287	251	251	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244\|PubMed:18669648;Dbxref=PMID:18669648
Q9P270	234	287	254	254	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244\|PubMed:18669648;Dbxref=PMID:18669648
Q9P270	287	407	1	581	Chain	ID=PRO_0000316965;Note=SLAIN motif-containing protein 2
Q9P270	287	407	315	315	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244\|PubMed:23186163;Dbxref=PMID:23186163
Q9P270	287	407	323	323	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000244;evidence=ECO:0000244\|PubMed:18669648,ECO:0000244\|PubMed:23186163;Dbxref=PMID:18669648,PMID:23186163
Q9P270	287	407	377	377	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000244;evidence=ECO:0000244\|PubMed:18669648,ECO:0000244\|PubMed:23186163;Dbxref=PMID:18669648,PMID:23186163
Q9P270	287	407	391	391	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000244,ECO:0000244;evidence=ECO:0000244\|PubMed:20068231,ECO:0000244\|PubMed:23186163,ECO:0000244\|PubMed:24275569;Dbxref=PMID:20068231,PMID:23186163,PMID:24275569

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SNVs in the skipped exons for SLAIN2

- Lollipop plot for presenting exon skipping associated SNVs.
* Click on the image to enlarge it in a new window.

- Differential PSIs between mutated versus non-mutated samples.

- Non-synonymous mutations located in the skipped exons in TCGA.

Cancer type	Sample	ESID	Skipped exon start	Skipped exon end	Mutation start	Mutation end	Mutation type	Reference seq	Mutation seq	AAchange
LIHC	TCGA-DD-A39Y-01	exon_skip_423419	48379913	48380077	48379944	48379944	Frame_Shift_Del	T	-	p.P190fs
SARC	TCGA-SI-AA8B-01	exon_skip_423419	48379913	48380077	48380035	48380035	Nonsense_Mutation	C	T	p.R221*
HNSC	TCGA-CV-6954-01	exon_skip_423419	48379913	48380077	48380075	48380075	Nonsense_Mutation	C	G	p.S234*
PRAD	TCGA-XK-AAIW-01	exon_skip_423431	48422142	48422460	48422198	48422198	Nonsense_Mutation	C	T	p.Q473*

- Depth of coverage in the three exons composing exon skipping event

Depth of coverage in three exons

Mutation description

- 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
NKM1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	48381707	48381865	48381846	48381846	Frame_Shift_Del	A	-	p.L281fs
BICR18_UPPER_AERODIGESTIVE_TRACT	48422142	48422460	48422235	48422237	In_Frame_Del	CTC	-	p.P486del
RKN_SOFT_TISSUE	48379913	48380077	48379942	48379942	Missense_Mutation	C	G	p.P190A
RKN_SOFT_TISSUE	48379913	48380077	48380072	48380072	Missense_Mutation	A	T	p.N233I
HUH6_LIVER	48381707	48381865	48381791	48381791	Missense_Mutation	A	C	p.E263A
HUH6CLONE5_LIVER	48381707	48381865	48381791	48381791	Missense_Mutation	A	C	p.E263A
CP66MEL_SKIN	48381707	48381865	48381806	48381806	Missense_Mutation	C	T	p.S268F
HEC1B_ENDOMETRIUM	48384585	48384656	48384617	48384617	Missense_Mutation	C	T	p.R299W
HEC1B_ENDOMETRIUM	48384585	48384944	48384617	48384617	Missense_Mutation	C	T	p.R299W
PACADD137_PANCREAS	48384585	48384944	48384744	48384744	Missense_Mutation	G	T	p.R341M
MOGGUVW_CENTRAL_NERVOUS_SYSTEM	48384585	48384944	48384758	48384758	Missense_Mutation	C	T	p.P346S
A3KAW_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	48384585	48384944	48384828	48384828	Missense_Mutation	G	A	p.R369Q
IGR1_SKIN	48384585	48384944	48384854	48384854	Missense_Mutation	C	T	p.P378S
CCRFCEM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	48384585	48384944	48384873	48384873	Missense_Mutation	G	A	p.R384H
CW2_LARGE_INTESTINE	48384585	48384944	48384912	48384912	Missense_Mutation	C	T	p.T397I
SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	48384585	48384944	48384928	48384928	Missense_Mutation	C	G	p.S402R
DMS79_LUNG	48422142	48422460	48422163	48422163	Missense_Mutation	G	A	p.R461H
PECAPJ49_UPPER_AERODIGESTIVE_TRACT	48422142	48422460	48422181	48422181	Missense_Mutation	C	A	p.S467Y
NCIH508_LARGE_INTESTINE	48422142	48422460	48422210	48422210	Missense_Mutation	G	A	p.A477T
GI1_CENTRAL_NERVOUS_SYSTEM	48422142	48422460	48422226	48422226	Missense_Mutation	G	A	p.G482D
NCIH630_LARGE_INTESTINE	48422142	48422460	48422307	48422307	Missense_Mutation	C	T	p.T509I
HEC1_ENDOMETRIUM	48422142	48422460	48422339	48422339	Missense_Mutation	A	G	p.S520G
SNU1040_LARGE_INTESTINE	48422142	48422460	48422372	48422372	Missense_Mutation	G	A	p.A531T
HCC1395_BREAST	48422142	48422460	48422378	48422378	Missense_Mutation	A	G	p.R533G
P30OHK_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	48422142	48422460	48422457	48422457	Missense_Mutation	G	A	p.R559H

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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for SLAIN2

sQTL information located at the skipped exons.

Exon skip ID

Chromosome

Three exons

Skippped exon

ENST

Cancer type

SNP id

Location

DNA change (ref/var)

P-value

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Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for SLAIN2

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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for SLAIN2

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RelatedDrugs for SLAIN2

Approved drugs targeting this gene.
(DrugBank Version 5.1.0 2018-04-02)

Gene

UniProtAcc

DrugBank ID

Drug name

Drug activity

Drug type

Drug status

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RelatedDiseases for SLAIN2

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 TCGA
	Exon skipping events with PSIs in GTEx
	Open reading frame (ORF) annotation in the exon skipping event
	Exon skipping events in the canonical protein sequence
	SNVs in the skipped exons with depth of coverage
	Splicing Quantitative Trait Loci (sQTLs) in the skipped exons
	Splicing Quantitative Trait Methylation (sQTM) in the skipped exon
	Related drugs with this gene
	Related diseases with this gene

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Gene summary for SLAIN2

Exon skipping events across known transcript of Ensembl for SLAIN2 from UCSC genome browser

Gene isoform structures and expression levels for SLAIN2

Exon skipping events with PSIs in TCGA for SLAIN2

Exon skipping events with PSIs in GTEx for SLAIN2

Open reading frame (ORF) annotation in the exon skipping event for SLAIN2

Infer the effects of exon skipping event on protein functional features for SLAIN2

SNVs in the skipped exons for SLAIN2

Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for SLAIN2

Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for SLAIN2

Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for SLAIN2

RelatedDrugs for SLAIN2

RelatedDiseases for SLAIN2