ExonSkipDB: functional annotation of exon skipping event in human

Gene summary for CABIN1

Gene summary

Gene information	Gene symbol	CABIN1
	Gene ID	23523
	Gene name	calcineurin binding protein 1
	Synonyms	CAIN\|KB-318B8.7\|PPP3IN
	Cytomap	22q11.23
	Type of gene	protein-coding
	Description	calcineurin-binding protein cabin-1calcineurin binding protein cabin 1calcineurin inhibitor
	Modification date	20180523
	UniProtAcc	Q9Y6J0
	Context	PubMed: CABIN1 [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
CABIN1	GO:0006336	DNA replication-independent nucleosome assembly	14718166

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Exon skipping events across known transcript of Ensembl for CABIN1 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 CABIN1

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 CABIN1

Information of exkip skipping event in TCGA.

Exon skip ID	chr	Exons involved in exon skipping	Skipped exon	ENSG	ENSTs
exon_skip_363778	22	24434795:24434909:24437586:24437721:24439365:24439546	24437586:24437721	ENSG00000099991.12	ENST00000398319.2,ENST00000405822.2,ENST00000263119.5
exon_skip_363781	22	24434795:24434909:24439365:24439546:24445552:24445682	24439365:24439546	ENSG00000099991.12	ENST00000445422.1,ENST00000454754.1
exon_skip_363784	22	24445552:24445682:24447286:24447436:24451335:24451622	24447286:24447436	ENSG00000099991.12	ENST00000398319.2,ENST00000445422.1,ENST00000263119.5,ENST00000454754.1
exon_skip_363785	22	24447286:24447436:24451335:24451622:24452654:24452767	24451335:24451622	ENSG00000099991.12	ENST00000398319.2,ENST00000445422.1,ENST00000263119.5,ENST00000454754.1
exon_skip_363787	22	24460497:24460650:24462937:24463132:24466750:24466841	24462937:24463132	ENSG00000099991.12	ENST00000398319.2,ENST00000405822.2,ENST00000263119.5
exon_skip_363789	22	24480531:24480738:24480958:24481104:24483404:24483666	24480958:24481104	ENSG00000099991.12	ENST00000398319.2,ENST00000405822.2,ENST00000263119.5
exon_skip_363791	22	24483540:24483666:24487536:24487797:24491893:24492045	24487536:24487797	ENSG00000099991.12	ENST00000398319.2,ENST00000405822.2,ENST00000263119.5
exon_skip_363805	22	24493976:24494068:24509532:24509715:24515333:24515573	24509532:24509715	ENSG00000099991.12	ENST00000405822.2
exon_skip_363818	22	24493976:24494155:24509532:24509715:24515333:24515573	24509532:24509715	ENSG00000099991.12	ENST00000398319.2,ENST00000263119.5
exon_skip_363825	22	24509532:24509715:24515333:24515665:24530268:24530382	24515333:24515665	ENSG00000099991.12	ENST00000398319.2,ENST00000405822.2,ENST00000263119.5
exon_skip_363833	22	24552500:24552544:24556297:24556374:24558033:24558183	24556297:24556374	ENSG00000099991.12	ENST00000495121.1
exon_skip_363836	22	24556297:24556374:24558033:24558183:24560367:24560457	24558033:24558183	ENSG00000099991.12	ENST00000495121.1
exon_skip_363837	22	24560367:24560531:24561497:24561594:24562606:24563281	24561497:24561594	ENSG00000099991.12	ENST00000398319.2,ENST00000405822.2,ENST00000337989.7,ENST00000263119.5
exon_skip_363840	22	24563190:24563281:24564414:24564489:24567680:24567963	24564414:24564489	ENSG00000099991.12	ENST00000398319.2,ENST00000405822.2,ENST00000485008.1,ENST00000337989.7,ENST00000263119.5
exon_skip_363861	22	24567680:24567963:24572078:24572243:24573471:24573506	24572078:24572243	ENSG00000099991.12	ENST00000398319.2,ENST00000405822.2,ENST00000263119.5
exon_skip_363869	22	24567680:24567963:24573471:24573785:24574020:24574595	24573471:24573785	ENSG00000099991.12	ENST00000337989.7
exon_skip_363883	22	24572078:24572243:24573471:24573785:24574020:24574595	24573471:24573785	ENSG00000099991.12	ENST00000398319.2,ENST00000405822.2,ENST00000263119.5

PSI values of skipped exons in TCGA.

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Exon skipping events with PSIs in GTEx for CABIN1

Information of exkip skipping event in GTEx

Exon skip ID	chr	Exons involved in exon skipping	Skipped exon	ENSG	ENSTs
exon_skip_363778	22	24434795:24434909:24437586:24437721:24439365:24439546	24437586:24437721	ENSG00000099991.12	ENST00000263119.5,ENST00000405822.2,ENST00000398319.2
exon_skip_363781	22	24434795:24434909:24439365:24439546:24445552:24445682	24439365:24439546	ENSG00000099991.12	ENST00000454754.1,ENST00000445422.1
exon_skip_363784	22	24445552:24445682:24447286:24447436:24451335:24451622	24447286:24447436	ENSG00000099991.12	ENST00000454754.1,ENST00000263119.5,ENST00000445422.1,ENST00000398319.2
exon_skip_363785	22	24447286:24447436:24451335:24451622:24452654:24452767	24451335:24451622	ENSG00000099991.12	ENST00000454754.1,ENST00000263119.5,ENST00000445422.1,ENST00000398319.2
exon_skip_363787	22	24460497:24460650:24462937:24463132:24466750:24466841	24462937:24463132	ENSG00000099991.12	ENST00000263119.5,ENST00000405822.2,ENST00000398319.2
exon_skip_363789	22	24480531:24480738:24480958:24481104:24483404:24483666	24480958:24481104	ENSG00000099991.12	ENST00000263119.5,ENST00000405822.2,ENST00000398319.2
exon_skip_363791	22	24483540:24483666:24487536:24487797:24491893:24492045	24487536:24487797	ENSG00000099991.12	ENST00000263119.5,ENST00000405822.2,ENST00000398319.2
exon_skip_363805	22	24493976:24494068:24509532:24509715:24515333:24515573	24509532:24509715	ENSG00000099991.12	ENST00000405822.2
exon_skip_363818	22	24493976:24494155:24509532:24509715:24515333:24515573	24509532:24509715	ENSG00000099991.12	ENST00000263119.5,ENST00000398319.2
exon_skip_363825	22	24509532:24509715:24515333:24515665:24530268:24530382	24515333:24515665	ENSG00000099991.12	ENST00000263119.5,ENST00000405822.2,ENST00000398319.2
exon_skip_363833	22	24552500:24552544:24556297:24556374:24558033:24558183	24556297:24556374	ENSG00000099991.12	ENST00000495121.1
exon_skip_363836	22	24556297:24556374:24558033:24558183:24560367:24560457	24558033:24558183	ENSG00000099991.12	ENST00000495121.1
exon_skip_363837	22	24560367:24560531:24561497:24561594:24562606:24563281	24561497:24561594	ENSG00000099991.12	ENST00000263119.5,ENST00000405822.2,ENST00000398319.2,ENST00000337989.7
exon_skip_363840	22	24563190:24563281:24564414:24564489:24567680:24567963	24564414:24564489	ENSG00000099991.12	ENST00000263119.5,ENST00000405822.2,ENST00000398319.2,ENST00000337989.7,ENST00000485008.1
exon_skip_363861	22	24567680:24567963:24572078:24572243:24573471:24573506	24572078:24572243	ENSG00000099991.12	ENST00000263119.5,ENST00000405822.2,ENST00000398319.2
exon_skip_363869	22	24567680:24567963:24573471:24573785:24574020:24574595	24573471:24573785	ENSG00000099991.12	ENST00000337989.7
exon_skip_363883	22	24572078:24572243:24573471:24573785:24574020:24574595	24573471:24573785	ENSG00000099991.12	ENST00000263119.5,ENST00000405822.2,ENST00000398319.2

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 CABIN1

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

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

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Infer the effects of exon skipping event on protein functional features for CABIN1

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

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

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

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

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SNVs in the skipped exons for CABIN1

- 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-A1EG-01	exon_skip_363781	24439366	24439546	24439458	24439458	Frame_Shift_Del	T	-	p.A146fs
ESCA	TCGA-L5-A8NM-01	exon_skip_363784	24447287	24447436	24447362	24447362	Frame_Shift_Del	A	-	p.K246fs
ESCA	TCGA-L5-A8NM-01	exon_skip_363784	24447287	24447436	24447362	24447362	Frame_Shift_Del	A	-	p.R244fs
BRCA	TCGA-E2-A15O-01	exon_skip_363787	24462938	24463132	24463095	24463095	Frame_Shift_Del	C	-	p.I733fs
LIHC	TCGA-DD-A3A0-01	exon_skip_363789	24480959	24481104	24481040	24481040	Frame_Shift_Del	A	-	p.K1067fs
LIHC	TCGA-G3-A3CJ-01	exon_skip_363791	24487537	24487797	24487542	24487542	Frame_Shift_Del	G	-	p.E1177fs
LIHC	TCGA-G3-A3CJ-01	exon_skip_363791	24487537	24487797	24487767	24487767	Frame_Shift_Del	C	-	p.N1252fs
LIHC	TCGA-DD-A1EG-01	exon_skip_363791	24487537	24487797	24487790	24487790	Frame_Shift_Del	C	-	p.A1260fs
STAD	TCGA-BR-A4QL-01	exon_skip_363869 exon_skip_363883	24573472	24573785	24573647	24573647	Frame_Shift_Del	C	-	p.R2127fs
KICH	TCGA-KN-8425-01	exon_skip_363869 exon_skip_363883	24573472	24573785	24573681	24573681	Frame_Shift_Del	T	-	p.S2139fs
LUAD	TCGA-44-7669-01	exon_skip_363784	24447287	24447436	24447324	24447324	Nonsense_Mutation	G	T	p.E232*
DLBC	TCGA-VB-A8QN-01	exon_skip_363784	24447287	24447436	24447360	24447360	Nonsense_Mutation	C	T	p.R244X
SKCM	TCGA-EE-A3J5-06	exon_skip_363785	24451336	24451622	24451496	24451496	Nonsense_Mutation	C	T	p.Q323*
SKCM	TCGA-D3-A5GO-06	exon_skip_363787	24462938	24463132	24463103	24463103	Nonsense_Mutation	G	T	p.E735*
SKCM	TCGA-D3-A5GO-06	exon_skip_363787	24462938	24463132	24463103	24463103	Nonsense_Mutation	G	T	p.E735X
BRCA	TCGA-AN-A0XW-01	exon_skip_363825	24515334	24515665	24515498	24515498	Nonsense_Mutation	G	T	p.E1489*
ESCA	TCGA-L5-A8NE-01	exon_skip_363837	24561498	24561594	24561508	24561508	Nonsense_Mutation	C	T	p.R1641*
ESCA	TCGA-L5-A8NE-01	exon_skip_363837	24561498	24561594	24561508	24561508	Nonsense_Mutation	C	T	p.R1641X

- 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
SUDHL1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	24561498	24561594	24561516	24561516	Frame_Shift_Del	T	-	p.A1643fs
EN_ENDOMETRIUM	24480959	24481104	24480975	24480976	Frame_Shift_Ins	-	G	p.EG1045fs
OVK18_OVARY	24573472	24573785	24573697	24573698	Frame_Shift_Ins	-	C	p.FP2144fs
HEC1_ENDOMETRIUM	24439366	24439546	24439436	24439436	Missense_Mutation	G	A	p.R139Q
NCIH1385_LUNG	24439366	24439546	24439436	24439436	Missense_Mutation	G	A	p.R139Q
OC316_OVARY	24439366	24439546	24439472	24439472	Missense_Mutation	T	C	p.L151P
OC314_OVARY	24439366	24439546	24439472	24439472	Missense_Mutation	T	C	p.L151P
KYSE270_OESOPHAGUS	24439366	24439546	24439475	24439475	Missense_Mutation	G	A	p.R152Q
KMS12BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	24439366	24439546	24439486	24439486	Missense_Mutation	G	A	p.D156N
T98G_CENTRAL_NERVOUS_SYSTEM	24447287	24447436	24447310	24447310	Missense_Mutation	C	T	p.S227L
WSUNHL_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	24451336	24451622	24451473	24451473	Missense_Mutation	T	C	p.V315A
SUPT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	24451336	24451622	24451535	24451535	Missense_Mutation	G	A	p.A336T
U937_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	24480959	24481104	24481026	24481026	Missense_Mutation	C	G	p.A1062G
TUR_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	24480959	24481104	24481026	24481026	Missense_Mutation	C	G	p.A1062G
SNU324_PANCREAS	24487537	24487797	24487564	24487564	Missense_Mutation	G	C	p.E1185Q
HCT15_LARGE_INTESTINE	24487537	24487797	24487591	24487591	Missense_Mutation	G	A	p.A1194T
EN_ENDOMETRIUM	24487537	24487797	24487634	24487634	Missense_Mutation	T	C	p.I1208T
ABC1_LUNG	24487537	24487797	24487673	24487673	Missense_Mutation	A	T	p.Q1221L
SNU1040_LARGE_INTESTINE	24487537	24487797	24487685	24487685	Missense_Mutation	T	A	p.V1225D
HCT15_LARGE_INTESTINE	24487537	24487797	24487694	24487694	Missense_Mutation	T	C	p.L1228P
SNU1040_LARGE_INTESTINE	24487537	24487797	24487759	24487759	Missense_Mutation	T	C	p.Y1250H
EVSAT_BREAST	24509533	24509715	24509625	24509625	Missense_Mutation	A	G	p.R1404G
IHH4_THYROID	24515334	24515665	24515388	24515388	Missense_Mutation	G	C	p.G1452A
KE97_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	24515334	24515665	24515388	24515388	Missense_Mutation	G	C	p.G1452A
SNU175_LARGE_INTESTINE	24515334	24515665	24515424	24515424	Missense_Mutation	C	T	p.A1464V
KYSE140_OESOPHAGUS	24515334	24515665	24515582	24515582	Missense_Mutation	C	T	p.R1517C
KYSE180_OESOPHAGUS	24515334	24515665	24515582	24515582	Missense_Mutation	C	T	p.R1517C
BICR22_UPPER_AERODIGESTIVE_TRACT	24515334	24515665	24515662	24515662	Missense_Mutation	C	A	p.H1543Q
RKO_LARGE_INTESTINE	24561498	24561594	24561533	24561533	Missense_Mutation	C	T	p.A1649V
BICR18_UPPER_AERODIGESTIVE_TRACT	24564415	24564489	24564427	24564427	Missense_Mutation	G	A	p.A1899T
SNU1040_LARGE_INTESTINE	24564415	24564489	24564478	24564478	Missense_Mutation	G	A	p.A1916T
MOLT16_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	24564415	24564489	24564485	24564485	Missense_Mutation	G	T	p.R1918I
MM370_SKIN	24572079	24572243	24572136	24572136	Missense_Mutation	G	A	p.R2033Q
GCT_SOFT_TISSUE	24572079	24572243	24572162	24572162	Missense_Mutation	C	T	p.P2042S
TGBC11TKB_STOMACH	24573472	24573785	24573553	24573553	Missense_Mutation	C	A	p.P2096Q
SCMCRM2_SOFT_TISSUE	24573472	24573785	24573555	24573555	Missense_Mutation	A	T	p.T2097S
RCM1_LARGE_INTESTINE	24573472	24573785	24573555	24573555	Missense_Mutation	A	T	p.T2097S
RERFLCFM_LUNG	24573472	24573785	24573555	24573555	Missense_Mutation	A	T	p.T2097S
TT_THYROID	24573472	24573785	24573577	24573577	Missense_Mutation	C	T	p.P2104L
HEC6_ENDOMETRIUM	24573472	24573785	24573631	24573631	Missense_Mutation	G	A	p.S2122N
IM95_STOMACH	24573472	24573785	24573684	24573684	Missense_Mutation	G	A	p.A2140T
MCC26_SKIN	24573472	24573785	24573730	24573730	Missense_Mutation	C	T	p.P2155L
SW1710_URINARY_TRACT	24447287	24447436	24447372	24447372	Nonsense_Mutation	C	T	p.Q248*
BICR22_UPPER_AERODIGESTIVE_TRACT	24451336	24451622	24451622	24451622	Splice_Site	G	A	p.G365S
MOLM13_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	24487537	24487797	24487538	24487538	Splice_Site	T	G	p.M1176R

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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for CABIN1

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 CABIN1

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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for CABIN1

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RelatedDrugs for CABIN1

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 CABIN1

Diseases associated with this gene.
(DisGeNet 4.0)

Gene	Disease ID	Disease name	# pubmeds	Source
CABIN1	C0018800	Cardiomegaly	1	CTD_human
CABIN1	C0036341	Schizophrenia	1	PSYGENET

	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 CABIN1

Exon skipping events across known transcript of Ensembl for CABIN1 from UCSC genome browser

Gene isoform structures and expression levels for CABIN1

Exon skipping events with PSIs in TCGA for CABIN1

Exon skipping events with PSIs in GTEx for CABIN1

Open reading frame (ORF) annotation in the exon skipping event for CABIN1

Infer the effects of exon skipping event on protein functional features for CABIN1

SNVs in the skipped exons for CABIN1

Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for CABIN1

Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for CABIN1

Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for CABIN1

RelatedDrugs for CABIN1

RelatedDiseases for CABIN1