ExonSkipDB: functional annotation of exon skipping event in human

Gene summary for CCDC88B

Gene summary

Gene information	Gene symbol	CCDC88B
	Gene ID	283234
	Gene name	coiled-coil domain containing 88B
	Synonyms	BRLZ\|CCDC88\|HKRP3\|gipie
	Cytomap	11q13.1
	Type of gene	protein-coding
	Description	coiled-coil domain-containing protein 88B78 kDa glucose-regulated protein [GRP78]-interacting protein induced by ER stressGRP78-interacting protein induced by ER stressbrain leucine zipper domain-containing proteinbrain leucine zipper proteincoiled-c
	Modification date	20180523
	UniProtAcc	A6NC98
	Context	PubMed: CCDC88B [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 CCDC88B 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 CCDC88B

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 CCDC88B

Information of exkip skipping event in TCGA.

Exon skip ID	chr	Exons involved in exon skipping	Skipped exon	ENSG	ENSTs
exon_skip_60728	11	64111249:64111386:64111468:64112629:64116802:64116930	64111468:64112629	ENSG00000168071.17	ENST00000492980.1,ENST00000463837.1,ENST00000494566.1,ENST00000356786.5,ENST00000494080.1
exon_skip_60730	11	64117029:64117140:64118631:64118727:64118947:64119088	64118631:64118727	ENSG00000168071.17	ENST00000359902.2,ENST00000356786.5,ENST00000301897.4
exon_skip_60732	11	64119601:64119858:64120215:64120359:64120525:64120712	64120215:64120359	ENSG00000168071.17	ENST00000463837.1,ENST00000359902.2,ENST00000356786.5,ENST00000301897.4,ENST00000494080.1
exon_skip_60734	11	64121186:64121285:64121475:64121500:64122665:64122872	64121475:64121500	ENSG00000168071.17	ENST00000359902.2
exon_skip_60736	11	64121186:64121285:64121475:64121642:64122665:64122872	64121475:64121642	ENSG00000168071.17	ENST00000463837.1,ENST00000356786.5,ENST00000479965.1,ENST00000494080.1
exon_skip_60744	11	64122665:64122872:64123031:64123100:64124510:64124711	64123031:64123100	ENSG00000168071.17	ENST00000463837.1,ENST00000359902.2,ENST00000356786.5,ENST00000301897.4,ENST00000494080.1,ENST00000473405.1

PSI values of skipped exons in TCGA.

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Exon skipping events with PSIs in GTEx for CCDC88B

Information of exkip skipping event in GTEx

Exon skip ID	chr	Exons involved in exon skipping	Skipped exon	ENSG	ENSTs
exon_skip_60728	11	64111249:64111386:64111468:64112629:64116802:64116930	64111468:64112629	ENSG00000168071.17	ENST00000463837.1,ENST00000356786.5,ENST00000494080.1,ENST00000494566.1,ENST00000492980.1
exon_skip_60730	11	64117029:64117140:64118631:64118727:64118947:64119088	64118631:64118727	ENSG00000168071.17	ENST00000356786.5,ENST00000301897.4,ENST00000359902.2
exon_skip_60732	11	64119601:64119858:64120215:64120359:64120525:64120712	64120215:64120359	ENSG00000168071.17	ENST00000463837.1,ENST00000356786.5,ENST00000494080.1,ENST00000301897.4,ENST00000359902.2
exon_skip_60734	11	64121186:64121285:64121475:64121500:64122665:64122872	64121475:64121500	ENSG00000168071.17	ENST00000359902.2
exon_skip_60736	11	64121186:64121285:64121475:64121642:64122665:64122872	64121475:64121642	ENSG00000168071.17	ENST00000463837.1,ENST00000356786.5,ENST00000494080.1,ENST00000479965.1
exon_skip_60744	11	64122665:64122872:64123031:64123100:64124510:64124711	64123031:64123100	ENSG00000168071.17	ENST00000463837.1,ENST00000356786.5,ENST00000494080.1,ENST00000301897.4,ENST00000359902.2,ENST00000473405.1

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 CCDC88B

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
ENST00000356786	64121475	64121642	Frame-shift
ENST00000356786	64111468	64112629	In-frame
ENST00000356786	64118631	64118727	In-frame
ENST00000356786	64120215	64120359	In-frame
ENST00000356786	64123031	64123100	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
ENST00000356786	64121475	64121642	Frame-shift
ENST00000356786	64111468	64112629	In-frame
ENST00000356786	64118631	64118727	In-frame
ENST00000356786	64120215	64120359	In-frame
ENST00000356786	64123031	64123100	In-frame

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Infer the effects of exon skipping event on protein functional features for CCDC88B

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
ENST00000356786	4932	1476	64111468	64112629	1500	2660	485	872
ENST00000356786	4932	1476	64118631	64118727	2907	3002	954	986
ENST00000356786	4932	1476	64120215	64120359	3401	3544	1119	1166
ENST00000356786	4932	1476	64123031	64123100	4351	4419	1435	1458

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
ENST00000356786	4932	1476	64111468	64112629	1500	2660	485	872
ENST00000356786	4932	1476	64118631	64118727	2907	3002	954	986
ENST00000356786	4932	1476	64120215	64120359	3401	3544	1119	1166
ENST00000356786	4932	1476	64123031	64123100	4351	4419	1435	1458

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
A6NC98	485	872	1	1337	Alternative sequence	ID=VSP_035405;Note=In isoform 6. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:11230166;Dbxref=PMID:11230166
A6NC98	485	872	1	864	Alternative sequence	ID=VSP_030956;Note=In isoform 5. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:15489334;Dbxref=PMID:15489334
A6NC98	485	872	865	872	Alternative sequence	ID=VSP_030959;Note=In isoform 5. REKEALQA->MKNRGLRE;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:15489334;Dbxref=PMID:15489334
A6NC98	485	872	1	1476	Chain	ID=PRO_0000317454;Note=Coiled-coil domain-containing protein 88B
A6NC98	485	872	720	1303	Coiled coil	Ontology_term=ECO:0000255;evidence=ECO:0000255
A6NC98	485	872	596	596	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244\|PubMed:24275569;Dbxref=PMID:24275569
A6NC98	485	872	639	639	Natural variant	ID=VAR_038524;Note=W->R;Dbxref=dbSNP:rs685870
A6NC98	954	986	1	1337	Alternative sequence	ID=VSP_035405;Note=In isoform 6. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:11230166;Dbxref=PMID:11230166
A6NC98	954	986	955	972	Alternative sequence	ID=VSP_030960;Note=In isoform 3. LRQGPAGLGPKKRAEPQL->VMPARLGAGGHATLPSIP;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:14702039;Dbxref=PMID:14702039
A6NC98	954	986	973	1476	Alternative sequence	ID=VSP_030961;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:14702039;Dbxref=PMID:14702039
A6NC98	954	986	1	1476	Chain	ID=PRO_0000317454;Note=Coiled-coil domain-containing protein 88B
A6NC98	954	986	720	1303	Coiled coil	Ontology_term=ECO:0000255;evidence=ECO:0000255
A6NC98	1119	1166	1	1337	Alternative sequence	ID=VSP_035405;Note=In isoform 6. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:11230166;Dbxref=PMID:11230166
A6NC98	1119	1166	973	1476	Alternative sequence	ID=VSP_030961;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:14702039;Dbxref=PMID:14702039
A6NC98	1119	1166	1019	1136	Alternative sequence	ID=VSP_030963;Note=In isoform 4. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|Ref.6
A6NC98	1119	1166	1035	1476	Alternative sequence	ID=VSP_030964;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:12693554;Dbxref=PMID:12693554
A6NC98	1119	1166	1	1476	Chain	ID=PRO_0000317454;Note=Coiled-coil domain-containing protein 88B
A6NC98	1119	1166	720	1303	Coiled coil	Ontology_term=ECO:0000255;evidence=ECO:0000255
A6NC98	1435	1458	973	1476	Alternative sequence	ID=VSP_030961;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:14702039;Dbxref=PMID:14702039
A6NC98	1435	1458	1035	1476	Alternative sequence	ID=VSP_030964;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:12693554;Dbxref=PMID:12693554
A6NC98	1435	1458	1320	1476	Alternative sequence	ID=VSP_030965;Note=In isoform 5. VKRLMRPRREGGPPGGLRLGADGAGSTESLGGPPETELPEGREADGTGSPSPAPMRRAQSSLCLRDETLAGGQRRKLSSRFPVGRSSESFSPGDTPRQRFRQRHPGPLGAPVSHSKGPGVGWENSAETLQEHETDANREGPEVQEPEKRPLTPSLSQ->GPLPRHPCAGPRAPSACGMRPWQAGSGGNSAQGSRWGEALSHSALGTPLGNDSDSAIQAPWGR
A6NC98	1435	1458	1	1476	Chain	ID=PRO_0000317454;Note=Coiled-coil domain-containing protein 88B

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
A6NC98	485	872	1	1337	Alternative sequence	ID=VSP_035405;Note=In isoform 6. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:11230166;Dbxref=PMID:11230166
A6NC98	485	872	1	864	Alternative sequence	ID=VSP_030956;Note=In isoform 5. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:15489334;Dbxref=PMID:15489334
A6NC98	485	872	865	872	Alternative sequence	ID=VSP_030959;Note=In isoform 5. REKEALQA->MKNRGLRE;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:15489334;Dbxref=PMID:15489334
A6NC98	485	872	1	1476	Chain	ID=PRO_0000317454;Note=Coiled-coil domain-containing protein 88B
A6NC98	485	872	720	1303	Coiled coil	Ontology_term=ECO:0000255;evidence=ECO:0000255
A6NC98	485	872	596	596	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244\|PubMed:24275569;Dbxref=PMID:24275569
A6NC98	485	872	639	639	Natural variant	ID=VAR_038524;Note=W->R;Dbxref=dbSNP:rs685870
A6NC98	954	986	1	1337	Alternative sequence	ID=VSP_035405;Note=In isoform 6. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:11230166;Dbxref=PMID:11230166
A6NC98	954	986	955	972	Alternative sequence	ID=VSP_030960;Note=In isoform 3. LRQGPAGLGPKKRAEPQL->VMPARLGAGGHATLPSIP;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:14702039;Dbxref=PMID:14702039
A6NC98	954	986	973	1476	Alternative sequence	ID=VSP_030961;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:14702039;Dbxref=PMID:14702039
A6NC98	954	986	1	1476	Chain	ID=PRO_0000317454;Note=Coiled-coil domain-containing protein 88B
A6NC98	954	986	720	1303	Coiled coil	Ontology_term=ECO:0000255;evidence=ECO:0000255
A6NC98	1119	1166	1	1337	Alternative sequence	ID=VSP_035405;Note=In isoform 6. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:11230166;Dbxref=PMID:11230166
A6NC98	1119	1166	973	1476	Alternative sequence	ID=VSP_030961;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:14702039;Dbxref=PMID:14702039
A6NC98	1119	1166	1019	1136	Alternative sequence	ID=VSP_030963;Note=In isoform 4. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|Ref.6
A6NC98	1119	1166	1035	1476	Alternative sequence	ID=VSP_030964;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:12693554;Dbxref=PMID:12693554
A6NC98	1119	1166	1	1476	Chain	ID=PRO_0000317454;Note=Coiled-coil domain-containing protein 88B
A6NC98	1119	1166	720	1303	Coiled coil	Ontology_term=ECO:0000255;evidence=ECO:0000255
A6NC98	1435	1458	973	1476	Alternative sequence	ID=VSP_030961;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:14702039;Dbxref=PMID:14702039
A6NC98	1435	1458	1035	1476	Alternative sequence	ID=VSP_030964;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:12693554;Dbxref=PMID:12693554
A6NC98	1435	1458	1320	1476	Alternative sequence	ID=VSP_030965;Note=In isoform 5. VKRLMRPRREGGPPGGLRLGADGAGSTESLGGPPETELPEGREADGTGSPSPAPMRRAQSSLCLRDETLAGGQRRKLSSRFPVGRSSESFSPGDTPRQRFRQRHPGPLGAPVSHSKGPGVGWENSAETLQEHETDANREGPEVQEPEKRPLTPSLSQ->GPLPRHPCAGPRAPSACGMRPWQAGSGGNSAQGSRWGEALSHSALGTPLGNDSDSAIQAPWGR
A6NC98	1435	1458	1	1476	Chain	ID=PRO_0000317454;Note=Coiled-coil domain-containing protein 88B

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SNVs in the skipped exons for CCDC88B

- 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-A3A0-01	exon_skip_60728	64111469	64112629	64111827	64111827	Frame_Shift_Del	C	-	p.A605fs
COAD	TCGA-A6-5665-01	exon_skip_60728	64111469	64112629	64111928	64111928	Frame_Shift_Del	T	-	p.A638fs
LIHC	TCGA-G3-A3CJ-01	exon_skip_60728	64111469	64112629	64112162	64112162	Frame_Shift_Del	G	-	p.G717fs
LIHC	TCGA-G3-A3CJ-01	exon_skip_60730	64118632	64118727	64118705	64118705	Frame_Shift_Del	G	-	p.R979fs
SKCM	TCGA-W3-AA1V-06	exon_skip_60734	64121476	64121500	64121493	64121493	Frame_Shift_Del	C	-	p.A1317fs
SKCM	TCGA-W3-AA1V-06	exon_skip_60736	64121476	64121642	64121493	64121493	Frame_Shift_Del	C	-	p.A1317fs
STAD	TCGA-BR-4361-01	exon_skip_60736	64121476	64121642	64121543	64121543	Frame_Shift_Del	G	-	p.G1334fs
STAD	TCGA-BR-4292-01	exon_skip_60728	64111469	64112629	64111891	64111892	Frame_Shift_Ins	-	A	p.G626fs
UCEC	TCGA-AX-A06H-01	exon_skip_60728	64111469	64112629	64111912	64111913	Frame_Shift_Ins	-	T	p.L633fs
SKCM	TCGA-D3-A51G-06	exon_skip_60728	64111469	64112629	64112135	64112136	Frame_Shift_Ins	-	T	p.P708fs
SKCM	TCGA-D3-A51G-06	exon_skip_60728	64111469	64112629	64112135	64112136	Frame_Shift_Ins	-	T	p.V708fs
LUAD	TCGA-95-A4VK-01	exon_skip_60728	64111469	64112629	64111772	64111772	Nonsense_Mutation	G	T	p.E587*
HNSC	TCGA-F7-A623-01	exon_skip_60728	64111469	64112629	64112192	64112192	Nonsense_Mutation	C	T	p.Q727*

- 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
SISO_CERVIX	64111469	64112629	64111945	64111945	Frame_Shift_Del	G	-	p.E644fs
GRST_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	64111469	64112629	64111945	64111945	Frame_Shift_Del	G	-	p.E644fs
MOLT16_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	64121476	64121642	64121536	64121536	Frame_Shift_Del	C	-	p.G1331fs
HT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	64121476	64121642	64121590	64121590	Frame_Shift_Del	G	-	p.L1349fs
HCT116_LARGE_INTESTINE	64121476	64121642	64121596	64121596	Frame_Shift_Del	C	-	p.G1351fs
NCIH630_LARGE_INTESTINE	64121476	64121642	64121596	64121596	Frame_Shift_Del	C	-	p.G1351fs
REH_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	64121476	64121642	64121596	64121596	Frame_Shift_Del	C	-	p.G1351fs
CMLT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	64121476	64121642	64121596	64121596	Frame_Shift_Del	C	-	p.G1351fs
GP5D_LARGE_INTESTINE	64121476	64121642	64121535	64121536	Frame_Shift_Ins	-	C	p.GP1331fs
SBC1_LUNG	64111469	64112629	64111597	64111597	Missense_Mutation	G	C	p.Q528H
NCIH128_LUNG	64111469	64112629	64111724	64111724	Missense_Mutation	G	T	p.A571S
CMLT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	64111469	64112629	64111926	64111926	Missense_Mutation	C	T	p.A638V
LS411N_LARGE_INTESTINE	64111469	64112629	64111938	64111938	Missense_Mutation	G	T	p.R642I
HCT15_LARGE_INTESTINE	64111469	64112629	64111950	64111950	Missense_Mutation	C	A	p.P646H
COLO783_SKIN	64111469	64112629	64112075	64112075	Missense_Mutation	G	A	p.G688R
MOLT3_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	64111469	64112629	64112085	64112085	Missense_Mutation	G	T	p.R691M
KYSE450_OESOPHAGUS	64111469	64112629	64112087	64112087	Missense_Mutation	G	A	p.D692N
HEC59_ENDOMETRIUM	64111469	64112629	64112090	64112090	Missense_Mutation	C	A	p.P693T
MOLT3_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	64111469	64112629	64112110	64112110	Missense_Mutation	G	T	p.Q699H
NCIH2286_LUNG	64111469	64112629	64112124	64112124	Missense_Mutation	G	T	p.G704V
NB12_AUTONOMIC_GANGLIA	64111469	64112629	64112124	64112124	Missense_Mutation	G	A	p.G704E
MLMA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	64111469	64112629	64112127	64112127	Missense_Mutation	C	T	p.A705V
MM386_SKIN	64111469	64112629	64112159	64112159	Missense_Mutation	C	T	p.P716S
MFE319_ENDOMETRIUM	64111469	64112629	64112252	64112252	Missense_Mutation	G	A	p.E747K
SNU407_LARGE_INTESTINE	64111469	64112629	64112354	64112354	Missense_Mutation	C	T	p.R781W
HCC15_LUNG	64111469	64112629	64112370	64112370	Missense_Mutation	A	G	p.Q786R
NCIH2106_LUNG	64111469	64112629	64112378	64112378	Missense_Mutation	G	A	p.E789K
JURKAT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	64111469	64112629	64112430	64112430	Missense_Mutation	C	A	p.S806Y
HEC1A_ENDOMETRIUM	64111469	64112629	64112432	64112432	Missense_Mutation	G	A	p.A807T
KARPAS384_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	64111469	64112629	64112475	64112475	Missense_Mutation	C	T	p.A821V
DETROIT562_UPPER_AERODIGESTIVE_TRACT	64111469	64112629	64112481	64112481	Missense_Mutation	G	A	p.R823Q
PANC0327_PANCREAS	64111469	64112629	64112481	64112481	Missense_Mutation	G	A	p.R823Q
NCIH146_LUNG	64111469	64112629	64112483	64112483	Missense_Mutation	G	A	p.E824K
SISO_CERVIX	64111469	64112629	64112519	64112519	Missense_Mutation	C	T	p.R836W
LOXIMVI_SKIN	64111469	64112629	64112561	64112561	Missense_Mutation	G	A	p.E850K
SW780_URINARY_TRACT	64120216	64120359	64120254	64120254	Missense_Mutation	C	T	p.A1132V
SAOS2_BONE	64120216	64120359	64120287	64120287	Missense_Mutation	G	A	p.R1143H
MDAMB415_BREAST	64120216	64120359	64120307	64120307	Missense_Mutation	C	T	p.R1150W
EMCBAC1_LUNG	64120216	64120359	64120335	64120335	Missense_Mutation	G	A	p.R1159Q
SISO_CERVIX	64121476	64121642	64121535	64121535	Missense_Mutation	G	C	p.G1331A
GRST_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	64121476	64121642	64121535	64121535	Missense_Mutation	G	C	p.G1331A
CAL62_THYROID	64121476	64121642	64121544	64121544	Missense_Mutation	G	A	p.G1334E
EFE184_ENDOMETRIUM	64121476	64121642	64121561	64121561	Missense_Mutation	G	A	p.A1340T
BFTC905_URINARY_TRACT	64121476	64121642	64121564	64121564	Missense_Mutation	G	C	p.D1341H
KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	64121476	64121642	64121584	64121584	Missense_Mutation	G	C	p.E1347D
HEC59_ENDOMETRIUM	64123032	64123100	64123058	64123058	Missense_Mutation	G	A	p.A1445T
SW48_LARGE_INTESTINE	64123032	64123100	64123058	64123058	Missense_Mutation	G	A	p.A1445T
SNU1040_LARGE_INTESTINE	64111469	64112629	64111742	64111742	Nonsense_Mutation	C	T	p.Q577*
TTC709_SOFT_TISSUE	64111469	64112629	64111749	64111749	Nonsense_Mutation	C	G	p.S579*
STM9101_SOFT_TISSUE	64111469	64112629	64111749	64111749	Nonsense_Mutation	C	G	p.S579*
NBTU110_AUTONOMIC_GANGLIA	64111469	64112629	64112330	64112330	Nonsense_Mutation	C	T	p.R773*
SEKI_SKIN	64111469	64112629	64112357	64112357	Nonsense_Mutation	G	T	p.E782*

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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for CCDC88B

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 CCDC88B

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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for CCDC88B

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RelatedDrugs for CCDC88B

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 CCDC88B

Diseases associated with this gene.
(DisGeNet 4.0)

Gene	Disease ID	Disease name	# pubmeds	Source
CCDC88B	C0023343	Leprosy	1	CTD_human

	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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