ExonSkipAD: functional annotation of exon skipping event in human

Gene summary for CCDC7

Gene summary

Gene information	Gene symbol	CCDC7
	Gene ID	79741
	Gene name	coiled-coil domain containing 7
	Synonyms	BIOT2\|BioT2-A\|BioT2-B\|BioT2-C\|C10orf68
	Cytomap	10p11.22
	Type of gene	protein-coding
	Description	coiled-coil domain-containing protein 7uncharacterized protein C10orf68epididymis secretory sperm binding protein
	Modification date	20200313
	UniProtAcc	A0A096LNG8, A0A0A6YYA4, A0A1B0GWZ1, A0A1W2PNE7, A6YT98, A6YT99, A6YTA0, Q96M83,
	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 CCDC7

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.

ENSG00000216937

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

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 CCDC7

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_10756	chr10	32517945:32517975:32518416:32518505:32543300:32543384	32518416:32518505
exon_skip_124436	chr10	32517945:32517975:32518416:32518505:32543300:32543385	32518416:32518505
exon_skip_125036	chr10	32635057:32635158:32664054:32664161:32685970:32686080	32664054:32664161
exon_skip_128749	chr10	32463017:32463049:32471064:32471230:32472481:32472542	32471064:32471230
exon_skip_141338	chr10	32567836:32567891:32583034:32583307:32584232:32584304	32583034:32583307
exon_skip_151447	chr10	32567836:32567891:32571859:32571893:32583034:32583307	32571859:32571893
exon_skip_153034	chr10	32567845:32567891:32571859:32571893:32583034:32583307	32571859:32571893
exon_skip_168174	chr10	32456251:32456334:32462683:32462703:32463017:32463049	32462683:32462703
exon_skip_169777	chr10	32565558:32565620:32567670:32567891:32571859:32571893	32567670:32567891
exon_skip_170874	chr10	32778977:32779084:32805015:32805098:32814370:32814453	32805015:32805098
exon_skip_176355	chr10	32462683:32462703:32463017:32463049:32471064:32471230	32463017:32463049
exon_skip_181283	chr10	32689090:32689163:32694879:32694992:32711620:32711730	32694879:32694992
exon_skip_210428	chr10	32729344:32729457:32778977:32779084:32805015:32805098	32778977:32779084
exon_skip_21209	chr10	32456300:32456334:32462683:32462703:32463017:32463049	32462683:32462703
exon_skip_214777	chr10	32567745:32567891:32571859:32571893:32574429:32574484	32571859:32571893
exon_skip_221255	chr10	32565562:32565620:32567670:32567891:32571859:32571893	32567670:32567891
exon_skip_229611	chr10	32567836:32567891:32623719:32623817:32685970:32686080	32623719:32623817
exon_skip_239334	chr10	32834815:32834898:32845243:32845326:32845543:32845626	32845243:32845326
exon_skip_239557	chr10	32845876:32845959:32846376:32846459:32847833:32847916	32846376:32846459
exon_skip_251817	chr10	32462683:32462703:32463017:32463049:32472481:32472542	32463017:32463049
exon_skip_256876	chr10	32473967:32474023:32491922:32491997:32517945:32517975	32491922:32491997
exon_skip_258061	chr10	32571859:32571893:32583034:32583307:32584232:32584304	32583034:32583307
exon_skip_27683	chr10	32729332:32729457:32778977:32779084:32805015:32805098	32778977:32779084
exon_skip_278560	chr10	32686019:32686080:32689053:32689163:32711620:32711730	32689053:32689163
exon_skip_282288	chr10	32686019:32686080:32689053:32689163:32694879:32694992	32689053:32689163
exon_skip_43964	chr10	32824518:32824604:32834815:32834898:32845543:32845626	32834815:32834898
exon_skip_59448	chr10	32571859:32571893:32574429:32574526:32583034:32583307	32574429:32574526
exon_skip_59676	chr10	32473968:32474023:32491922:32491997:32517945:32517975	32491922:32491997
exon_skip_61272	chr10	32574429:32574526:32583034:32583307:32584232:32584304	32583034:32583307
exon_skip_64173	chr10	32462683:32462703:32463017:32463049:32517945:32517975	32463017:32463049
exon_skip_65921	chr10	32689053:32689163:32694879:32694992:32711620:32711730	32694879:32694992
exon_skip_74468	chr10	32584232:32584304:32675665:32675813:32685970:32686080	32675665:32675813
exon_skip_85636	chr10	32689053:32689163:32711620:32711730:32726734:32726832	32711620:32711730

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_285051	MSBB_PG	5.001724e-01	3.942553e-01	1.059171e-01	1.068729e-03
exon_skip_151447	MSBB_PG	6.211966e-01	4.945652e-01	1.266314e-01	1.958933e-03
exon_skip_258061	MSBB_IFG	5.164706e-01	6.875000e-01	-1.710294e-01	3.228745e-02

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Open reading frame (ORF) annotation in the exon skipping event for CCDC7

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
ENST00000639629	32471064	32471230	Frame-shift
ENST00000639629	32571859	32571893	Frame-shift
ENST00000639629	32583034	32583307	Frame-shift
ENST00000639629	32462683	32462703	In-frame
ENST00000639629	32463017	32463049	In-frame
ENST00000639629	32518416	32518505	In-frame
ENST00000639629	32567670	32567891	In-frame
ENST00000639629	32664054	32664161	In-frame
ENST00000639629	32689053	32689163	In-frame
ENST00000639629	32694879	32694992	In-frame
ENST00000639629	32778977	32779084	In-frame
ENST00000639629	32805015	32805098	In-frame
ENST00000639629	32845243	32845326	In-frame
ENST00000639629	32846376	32846459	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
ENST00000639629	32471064	32471230	Frame-shift
ENST00000639629	32491922	32491997	Frame-shift
ENST00000639629	32571859	32571893	Frame-shift
ENST00000639629	32583034	32583307	Frame-shift
ENST00000639629	32462683	32462703	In-frame
ENST00000639629	32463017	32463049	In-frame
ENST00000639629	32518416	32518505	In-frame
ENST00000639629	32567670	32567891	In-frame
ENST00000639629	32664054	32664161	In-frame
ENST00000639629	32689053	32689163	In-frame
ENST00000639629	32694879	32694992	In-frame
ENST00000639629	32778977	32779084	In-frame
ENST00000639629	32805015	32805098	In-frame
ENST00000639629	32846376	32846459	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
ENST00000639629	32471064	32471230	Frame-shift
ENST00000639629	32571859	32571893	Frame-shift
ENST00000639629	32583034	32583307	Frame-shift
ENST00000639629	32462683	32462703	In-frame
ENST00000639629	32518416	32518505	In-frame
ENST00000639629	32567670	32567891	In-frame
ENST00000639629	32689053	32689163	In-frame
ENST00000639629	32694879	32694992	In-frame
ENST00000639629	32805015	32805098	In-frame
ENST00000639629	32845243	32845326	In-frame
ENST00000639629	32846376	32846459	In-frame

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Infer the effects of exon skipping event on protein functional features for CCDC7

p-ENSG00000216937_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
ENST00000639629	4175	1385	32463017	32463049	479	510	159	170
ENST00000639629	4175	1385	32518416	32518505	905	993	301	331
ENST00000639629	4175	1385	32567670	32567891	1199	1419	399	473
ENST00000639629	4175	1385	32664054	32664161	2016	2122	672	707
ENST00000639629	4175	1385	32689053	32689163	2235	2344	745	781
ENST00000639629	4175	1385	32694879	32694992	2346	2458	782	819
ENST00000639629	4175	1385	32778977	32779084	2907	3013	969	1004
ENST00000639629	4175	1385	32805015	32805098	3015	3097	1005	1032
ENST00000639629	4175	1385	32845243	32845326	3354	3436	1118	1145
ENST00000639629	4175	1385	32846376	32846459	3606	3688	1202	1229

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
ENST00000639629	4175	1385	32463017	32463049	479	510	159	170
ENST00000639629	4175	1385	32518416	32518505	905	993	301	331
ENST00000639629	4175	1385	32567670	32567891	1199	1419	399	473
ENST00000639629	4175	1385	32664054	32664161	2016	2122	672	707
ENST00000639629	4175	1385	32689053	32689163	2235	2344	745	781
ENST00000639629	4175	1385	32694879	32694992	2346	2458	782	819
ENST00000639629	4175	1385	32778977	32779084	2907	3013	969	1004
ENST00000639629	4175	1385	32805015	32805098	3015	3097	1005	1032
ENST00000639629	4175	1385	32846376	32846459	3606	3688	1202	1229

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
ENST00000639629	4175	1385	32518416	32518505	905	993	301	331
ENST00000639629	4175	1385	32567670	32567891	1199	1419	399	473
ENST00000639629	4175	1385	32689053	32689163	2235	2344	745	781
ENST00000639629	4175	1385	32694879	32694992	2346	2458	782	819
ENST00000639629	4175	1385	32805015	32805098	3015	3097	1005	1032
ENST00000639629	4175	1385	32845243	32845326	3354	3436	1118	1145
ENST00000639629	4175	1385	32846376	32846459	3606	3688	1202	1229

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
Q96M83	159	170	1	1385	Chain	ID=PRO_0000089399;Note=Coiled-coil domain-containing protein 7
Q96M83	301	331	268	1385	Alternative sequence	ID=VSP_010526;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:14702039;Dbxref=PMID:14702039
Q96M83	301	331	1	1385	Chain	ID=PRO_0000089399;Note=Coiled-coil domain-containing protein 7
Q96M83	301	331	299	330	Coiled coil	Ontology_term=ECO:0000255;evidence=ECO:0000255
Q96M83	399	473	268	1385	Alternative sequence	ID=VSP_010526;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:14702039;Dbxref=PMID:14702039
Q96M83	399	473	1	1385	Chain	ID=PRO_0000089399;Note=Coiled-coil domain-containing protein 7
Q96M83	399	473	374	411	Coiled coil	Ontology_term=ECO:0000255;evidence=ECO:0000255
Q96M83	399	473	449	449	Natural variant	ID=VAR_050766;Note=K->T;Dbxref=dbSNP:rs12268559
Q96M83	672	707	268	1385	Alternative sequence	ID=VSP_010526;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:14702039;Dbxref=PMID:14702039
Q96M83	672	707	480	1385	Alternative sequence	ID=VSP_058368;Note=In isoform 4. Missing
Q96M83	672	707	487	1385	Alternative sequence	ID=VSP_058370;Note=In isoform 3. Missing
Q96M83	672	707	517	1385	Alternative sequence	ID=VSP_058371;Note=In isoform 5. Missing
Q96M83	672	707	1	1385	Chain	ID=PRO_0000089399;Note=Coiled-coil domain-containing protein 7
Q96M83	745	781	268	1385	Alternative sequence	ID=VSP_010526;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:14702039;Dbxref=PMID:14702039
Q96M83	745	781	480	1385	Alternative sequence	ID=VSP_058368;Note=In isoform 4. Missing
Q96M83	745	781	487	1385	Alternative sequence	ID=VSP_058370;Note=In isoform 3. Missing
Q96M83	745	781	517	1385	Alternative sequence	ID=VSP_058371;Note=In isoform 5. Missing
Q96M83	745	781	1	1385	Chain	ID=PRO_0000089399;Note=Coiled-coil domain-containing protein 7
Q96M83	782	819	268	1385	Alternative sequence	ID=VSP_010526;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:14702039;Dbxref=PMID:14702039
Q96M83	782	819	480	1385	Alternative sequence	ID=VSP_058368;Note=In isoform 4. Missing
Q96M83	782	819	487	1385	Alternative sequence	ID=VSP_058370;Note=In isoform 3. Missing
Q96M83	782	819	517	1385	Alternative sequence	ID=VSP_058371;Note=In isoform 5. Missing
Q96M83	782	819	1	1385	Chain	ID=PRO_0000089399;Note=Coiled-coil domain-containing protein 7
Q96M83	969	1004	268	1385	Alternative sequence	ID=VSP_010526;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:14702039;Dbxref=PMID:14702039
Q96M83	969	1004	480	1385	Alternative sequence	ID=VSP_058368;Note=In isoform 4. Missing
Q96M83	969	1004	487	1385	Alternative sequence	ID=VSP_058370;Note=In isoform 3. Missing
Q96M83	969	1004	517	1385	Alternative sequence	ID=VSP_058371;Note=In isoform 5. Missing
Q96M83	969	1004	1	1385	Chain	ID=PRO_0000089399;Note=Coiled-coil domain-containing protein 7
Q96M83	1005	1032	268	1385	Alternative sequence	ID=VSP_010526;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:14702039;Dbxref=PMID:14702039
Q96M83	1005	1032	480	1385	Alternative sequence	ID=VSP_058368;Note=In isoform 4. Missing
Q96M83	1005	1032	487	1385	Alternative sequence	ID=VSP_058370;Note=In isoform 3. Missing
Q96M83	1005	1032	517	1385	Alternative sequence	ID=VSP_058371;Note=In isoform 5. Missing
Q96M83	1005	1032	1	1385	Chain	ID=PRO_0000089399;Note=Coiled-coil domain-containing protein 7
Q96M83	1118	1145	268	1385	Alternative sequence	ID=VSP_010526;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:14702039;Dbxref=PMID:14702039
Q96M83	1118	1145	480	1385	Alternative sequence	ID=VSP_058368;Note=In isoform 4. Missing
Q96M83	1118	1145	487	1385	Alternative sequence	ID=VSP_058370;Note=In isoform 3. Missing
Q96M83	1118	1145	517	1385	Alternative sequence	ID=VSP_058371;Note=In isoform 5. Missing
Q96M83	1118	1145	1	1385	Chain	ID=PRO_0000089399;Note=Coiled-coil domain-containing protein 7
Q96M83	1202	1229	268	1385	Alternative sequence	ID=VSP_010526;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:14702039;Dbxref=PMID:14702039
Q96M83	1202	1229	480	1385	Alternative sequence	ID=VSP_058368;Note=In isoform 4. Missing
Q96M83	1202	1229	487	1385	Alternative sequence	ID=VSP_058370;Note=In isoform 3. Missing
Q96M83	1202	1229	517	1385	Alternative sequence	ID=VSP_058371;Note=In isoform 5. Missing
Q96M83	1202	1229	1	1385	Chain	ID=PRO_0000089399;Note=Coiled-coil domain-containing protein 7

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
Q96M83	159	170	1	1385	Chain	ID=PRO_0000089399;Note=Coiled-coil domain-containing protein 7
Q96M83	301	331	268	1385	Alternative sequence	ID=VSP_010526;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:14702039;Dbxref=PMID:14702039
Q96M83	301	331	1	1385	Chain	ID=PRO_0000089399;Note=Coiled-coil domain-containing protein 7
Q96M83	301	331	299	330	Coiled coil	Ontology_term=ECO:0000255;evidence=ECO:0000255
Q96M83	399	473	268	1385	Alternative sequence	ID=VSP_010526;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:14702039;Dbxref=PMID:14702039
Q96M83	399	473	1	1385	Chain	ID=PRO_0000089399;Note=Coiled-coil domain-containing protein 7
Q96M83	399	473	374	411	Coiled coil	Ontology_term=ECO:0000255;evidence=ECO:0000255
Q96M83	399	473	449	449	Natural variant	ID=VAR_050766;Note=K->T;Dbxref=dbSNP:rs12268559
Q96M83	672	707	268	1385	Alternative sequence	ID=VSP_010526;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:14702039;Dbxref=PMID:14702039
Q96M83	672	707	480	1385	Alternative sequence	ID=VSP_058368;Note=In isoform 4. Missing
Q96M83	672	707	487	1385	Alternative sequence	ID=VSP_058370;Note=In isoform 3. Missing
Q96M83	672	707	517	1385	Alternative sequence	ID=VSP_058371;Note=In isoform 5. Missing
Q96M83	672	707	1	1385	Chain	ID=PRO_0000089399;Note=Coiled-coil domain-containing protein 7
Q96M83	745	781	268	1385	Alternative sequence	ID=VSP_010526;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:14702039;Dbxref=PMID:14702039
Q96M83	745	781	480	1385	Alternative sequence	ID=VSP_058368;Note=In isoform 4. Missing
Q96M83	745	781	487	1385	Alternative sequence	ID=VSP_058370;Note=In isoform 3. Missing
Q96M83	745	781	517	1385	Alternative sequence	ID=VSP_058371;Note=In isoform 5. Missing
Q96M83	745	781	1	1385	Chain	ID=PRO_0000089399;Note=Coiled-coil domain-containing protein 7
Q96M83	782	819	268	1385	Alternative sequence	ID=VSP_010526;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:14702039;Dbxref=PMID:14702039
Q96M83	782	819	480	1385	Alternative sequence	ID=VSP_058368;Note=In isoform 4. Missing
Q96M83	782	819	487	1385	Alternative sequence	ID=VSP_058370;Note=In isoform 3. Missing
Q96M83	782	819	517	1385	Alternative sequence	ID=VSP_058371;Note=In isoform 5. Missing
Q96M83	782	819	1	1385	Chain	ID=PRO_0000089399;Note=Coiled-coil domain-containing protein 7
Q96M83	969	1004	268	1385	Alternative sequence	ID=VSP_010526;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:14702039;Dbxref=PMID:14702039
Q96M83	969	1004	480	1385	Alternative sequence	ID=VSP_058368;Note=In isoform 4. Missing
Q96M83	969	1004	487	1385	Alternative sequence	ID=VSP_058370;Note=In isoform 3. Missing
Q96M83	969	1004	517	1385	Alternative sequence	ID=VSP_058371;Note=In isoform 5. Missing
Q96M83	969	1004	1	1385	Chain	ID=PRO_0000089399;Note=Coiled-coil domain-containing protein 7
Q96M83	1005	1032	268	1385	Alternative sequence	ID=VSP_010526;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:14702039;Dbxref=PMID:14702039
Q96M83	1005	1032	480	1385	Alternative sequence	ID=VSP_058368;Note=In isoform 4. Missing
Q96M83	1005	1032	487	1385	Alternative sequence	ID=VSP_058370;Note=In isoform 3. Missing
Q96M83	1005	1032	517	1385	Alternative sequence	ID=VSP_058371;Note=In isoform 5. Missing
Q96M83	1005	1032	1	1385	Chain	ID=PRO_0000089399;Note=Coiled-coil domain-containing protein 7
Q96M83	1202	1229	268	1385	Alternative sequence	ID=VSP_010526;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:14702039;Dbxref=PMID:14702039
Q96M83	1202	1229	480	1385	Alternative sequence	ID=VSP_058368;Note=In isoform 4. Missing
Q96M83	1202	1229	487	1385	Alternative sequence	ID=VSP_058370;Note=In isoform 3. Missing
Q96M83	1202	1229	517	1385	Alternative sequence	ID=VSP_058371;Note=In isoform 5. Missing
Q96M83	1202	1229	1	1385	Chain	ID=PRO_0000089399;Note=Coiled-coil domain-containing protein 7

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
Q96M83	301	331	268	1385	Alternative sequence	ID=VSP_010526;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:14702039;Dbxref=PMID:14702039
Q96M83	301	331	1	1385	Chain	ID=PRO_0000089399;Note=Coiled-coil domain-containing protein 7
Q96M83	301	331	299	330	Coiled coil	Ontology_term=ECO:0000255;evidence=ECO:0000255
Q96M83	399	473	268	1385	Alternative sequence	ID=VSP_010526;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:14702039;Dbxref=PMID:14702039
Q96M83	399	473	1	1385	Chain	ID=PRO_0000089399;Note=Coiled-coil domain-containing protein 7
Q96M83	399	473	374	411	Coiled coil	Ontology_term=ECO:0000255;evidence=ECO:0000255
Q96M83	399	473	449	449	Natural variant	ID=VAR_050766;Note=K->T;Dbxref=dbSNP:rs12268559
Q96M83	745	781	268	1385	Alternative sequence	ID=VSP_010526;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:14702039;Dbxref=PMID:14702039
Q96M83	745	781	480	1385	Alternative sequence	ID=VSP_058368;Note=In isoform 4. Missing
Q96M83	745	781	487	1385	Alternative sequence	ID=VSP_058370;Note=In isoform 3. Missing
Q96M83	745	781	517	1385	Alternative sequence	ID=VSP_058371;Note=In isoform 5. Missing
Q96M83	745	781	1	1385	Chain	ID=PRO_0000089399;Note=Coiled-coil domain-containing protein 7
Q96M83	782	819	268	1385	Alternative sequence	ID=VSP_010526;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:14702039;Dbxref=PMID:14702039
Q96M83	782	819	480	1385	Alternative sequence	ID=VSP_058368;Note=In isoform 4. Missing
Q96M83	782	819	487	1385	Alternative sequence	ID=VSP_058370;Note=In isoform 3. Missing
Q96M83	782	819	517	1385	Alternative sequence	ID=VSP_058371;Note=In isoform 5. Missing
Q96M83	782	819	1	1385	Chain	ID=PRO_0000089399;Note=Coiled-coil domain-containing protein 7
Q96M83	1005	1032	268	1385	Alternative sequence	ID=VSP_010526;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:14702039;Dbxref=PMID:14702039
Q96M83	1005	1032	480	1385	Alternative sequence	ID=VSP_058368;Note=In isoform 4. Missing
Q96M83	1005	1032	487	1385	Alternative sequence	ID=VSP_058370;Note=In isoform 3. Missing
Q96M83	1005	1032	517	1385	Alternative sequence	ID=VSP_058371;Note=In isoform 5. Missing
Q96M83	1005	1032	1	1385	Chain	ID=PRO_0000089399;Note=Coiled-coil domain-containing protein 7
Q96M83	1118	1145	268	1385	Alternative sequence	ID=VSP_010526;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:14702039;Dbxref=PMID:14702039
Q96M83	1118	1145	480	1385	Alternative sequence	ID=VSP_058368;Note=In isoform 4. Missing
Q96M83	1118	1145	487	1385	Alternative sequence	ID=VSP_058370;Note=In isoform 3. Missing
Q96M83	1118	1145	517	1385	Alternative sequence	ID=VSP_058371;Note=In isoform 5. Missing
Q96M83	1118	1145	1	1385	Chain	ID=PRO_0000089399;Note=Coiled-coil domain-containing protein 7
Q96M83	1202	1229	268	1385	Alternative sequence	ID=VSP_010526;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:14702039;Dbxref=PMID:14702039
Q96M83	1202	1229	480	1385	Alternative sequence	ID=VSP_058368;Note=In isoform 4. Missing
Q96M83	1202	1229	487	1385	Alternative sequence	ID=VSP_058370;Note=In isoform 3. Missing
Q96M83	1202	1229	517	1385	Alternative sequence	ID=VSP_058371;Note=In isoform 5. Missing
Q96M83	1202	1229	1	1385	Chain	ID=PRO_0000089399;Note=Coiled-coil domain-containing protein 7

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3'-UTR located exon skipping events that lost miRNA binding sites in CCDC7

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

Top

SNVs in the skipped exons for CCDC7

- Differential PSIs between mutated versus non-mutated samples.

ENSG00000216937.exon_skip_10756.MSBB_PG.WGS.boxplot.svg
boxplot

ENSG00000216937.exon_skip_124436.MSBB_FL.WGS.boxplot.svg
boxplot

ENSG00000216937.exon_skip_124436.MSBB_IFG.WGS.boxplot.svg
boxplot

ENSG00000216937.exon_skip_124436.MSBB_STG.WGS.boxplot.svg
boxplot

ENSG00000216937.exon_skip_124436.ROSMAP_HCC.WGS.boxplot.svg
boxplot

ENSG00000216937.exon_skip_124436.ROSMAP_PCC.WGS.boxplot.svg
boxplot

ENSG00000216937.exon_skip_169777.ROSMAP_HCC.WGS.boxplot.svg
boxplot

ENSG00000216937.exon_skip_174165.ROSMAP_HCC.WGS.boxplot.svg
boxplot

ENSG00000216937.exon_skip_26849.ROSMAP_HCC.WGS.boxplot.svg
boxplot

- Depth of Coverage in the skipped exon of the mutated samples.

ENSG00000216937.exon_skip_10756.MSBB_PG.hB_RNA_10577_resequenced.WGS.svg
boxplot

ENSG00000216937.exon_skip_124436.MSBB_FL.hB_RNA_12838.WGS.svg
boxplot

ENSG00000216937.exon_skip_10756.MSBB_PG.hB_RNA_10662_resequenced.WGS.svg
boxplot

ENSG00000216937.exon_skip_124436.MSBB_FL.hB_RNA_12859.WGS.svg
boxplot

ENSG00000216937.exon_skip_10756.MSBB_PG.hB_RNA_10852_resequenced.WGS.svg
boxplot

ENSG00000216937.exon_skip_124436.MSBB_FL.hB_RNA_13134.WGS.svg
boxplot

ENSG00000216937.exon_skip_124436.MSBB_FL.BM_10_600.WGS.svg
boxplot

ENSG00000216937.exon_skip_124436.MSBB_IFG.hB_RNA_16485.WGS.svg
boxplot

ENSG00000216937.exon_skip_124436.MSBB_FL.BM_10_644.WGS.svg
boxplot

ENSG00000216937.exon_skip_124436.MSBB_STG.BM_22_72.WGS.svg
boxplot

ENSG00000216937.exon_skip_124436.MSBB_FL.BM_10_680.WGS.svg
boxplot

ENSG00000216937.exon_skip_124436.MSBB_STG.hB_RNA_10262.WGS.svg
boxplot

ENSG00000216937.exon_skip_124436.MSBB_FL.BM_10_708.WGS.svg
boxplot

ENSG00000216937.exon_skip_124436.MSBB_FL.hB_RNA_12865.WGS.svg
boxplot

ENSG00000216937.exon_skip_124436.MSBB_FL.hB_RNA_12555.WGS.svg
boxplot

ENSG00000216937.exon_skip_124436.MSBB_FL.hB_RNA_13018.WGS.svg
boxplot

ENSG00000216937.exon_skip_124436.MSBB_FL.hB_RNA_12662.WGS.svg
boxplot

ENSG00000216937.exon_skip_124436.ROSMAP_HCC.2229-AC.WGS.svg
boxplot

ENSG00000216937.exon_skip_124436.ROSMAP_HCC.R1571066-AC.WGS.svg
boxplot

ENSG00000216937.exon_skip_124436.ROSMAP_HCC.R2386521-AC.WGS.svg
boxplot

ENSG00000216937.exon_skip_124436.ROSMAP_HCC.R2716798-AC.WGS.svg
boxplot

ENSG00000216937.exon_skip_124436.ROSMAP_HCC.R4047989-AC.WGS.svg
boxplot

ENSG00000216937.exon_skip_124436.ROSMAP_HCC.R4077358-AC.WGS.svg
boxplot

ENSG00000216937.exon_skip_124436.ROSMAP_HCC.R7095349-AC.WGS.svg
boxplot

ENSG00000216937.exon_skip_124436.ROSMAP_HCC.R7641350-AC.WGS.svg
boxplot

ENSG00000216937.exon_skip_124436.ROSMAP_HCC.R8615683-AC.WGS.svg
boxplot

ENSG00000216937.exon_skip_124436.ROSMAP_HCC.R9426782-AC.WGS.svg
boxplot

ENSG00000216937.exon_skip_124436.ROSMAP_PCC.2229-PCC.WGS.svg
boxplot

ENSG00000216937.exon_skip_124436.ROSMAP_PCC.2546-PCC.WGS.svg
boxplot

ENSG00000216937.exon_skip_124436.ROSMAP_PCC.R2386521-PCC.WGS.svg
boxplot

ENSG00000216937.exon_skip_124436.ROSMAP_PCC.R2488731-PCC.WGS.svg
boxplot

ENSG00000216937.exon_skip_124436.ROSMAP_PCC.R7095349-PCC.WGS.svg
boxplot

ENSG00000216937.exon_skip_124436.ROSMAP_PCC.R7594705-PCC.WGS.svg
boxplot

ENSG00000216937.exon_skip_124436.ROSMAP_PCC.R8626395-PCC.WGS.svg
boxplot

ENSG00000216937.exon_skip_124436.ROSMAP_PCC.R9426782-PCC.WGS.svg
boxplot

- Sashimi plot in the skipped exon of the mutated samples.

ENSG00000216937.exon_skip_10756.MSBB_PG.hB_RNA_10577_resequenced.WGS.png
boxplot

ENSG00000216937.exon_skip_124436.MSBB_FL.hB_RNA_12838.WGS.png
boxplot

ENSG00000216937.exon_skip_10756.MSBB_PG.hB_RNA_10662_resequenced.WGS.png
boxplot

ENSG00000216937.exon_skip_124436.MSBB_FL.hB_RNA_12859.WGS.png
boxplot

ENSG00000216937.exon_skip_10756.MSBB_PG.hB_RNA_10852_resequenced.WGS.png
boxplot

ENSG00000216937.exon_skip_124436.MSBB_FL.hB_RNA_13134.WGS.png
boxplot

ENSG00000216937.exon_skip_124436.MSBB_FL.BM_10_600.WGS.png
boxplot

ENSG00000216937.exon_skip_124436.MSBB_IFG.hB_RNA_16485.WGS.png
boxplot

ENSG00000216937.exon_skip_124436.MSBB_FL.BM_10_644.WGS.png
boxplot

ENSG00000216937.exon_skip_124436.MSBB_STG.BM_22_72.WGS.png
boxplot

ENSG00000216937.exon_skip_124436.MSBB_FL.BM_10_680.WGS.png
boxplot

ENSG00000216937.exon_skip_124436.MSBB_STG.hB_RNA_10262.WGS.png
boxplot

ENSG00000216937.exon_skip_124436.MSBB_FL.BM_10_708.WGS.png
boxplot

ENSG00000216937.exon_skip_124436.MSBB_FL.hB_RNA_12865.WGS.png
boxplot

ENSG00000216937.exon_skip_124436.MSBB_FL.hB_RNA_12555.WGS.png
boxplot

ENSG00000216937.exon_skip_124436.MSBB_FL.hB_RNA_13018.WGS.png
boxplot

ENSG00000216937.exon_skip_124436.MSBB_FL.hB_RNA_12662.WGS.png
boxplot

ENSG00000216937.exon_skip_124436.ROSMAP_HCC.2229-AC.WGS.png
boxplot

ENSG00000216937.exon_skip_124436.ROSMAP_HCC.R1571066-AC.WGS.png
boxplot

ENSG00000216937.exon_skip_124436.ROSMAP_HCC.R2386521-AC.WGS.png
boxplot

ENSG00000216937.exon_skip_124436.ROSMAP_HCC.R2716798-AC.WGS.png
boxplot

ENSG00000216937.exon_skip_124436.ROSMAP_HCC.R4047989-AC.WGS.png
boxplot

ENSG00000216937.exon_skip_124436.ROSMAP_HCC.R4077358-AC.WGS.png
boxplot

ENSG00000216937.exon_skip_124436.ROSMAP_HCC.R7095349-AC.WGS.png
boxplot

ENSG00000216937.exon_skip_124436.ROSMAP_HCC.R7641350-AC.WGS.png
boxplot

ENSG00000216937.exon_skip_124436.ROSMAP_HCC.R8615683-AC.WGS.png
boxplot

ENSG00000216937.exon_skip_124436.ROSMAP_HCC.R9426782-AC.WGS.png
boxplot

ENSG00000216937.exon_skip_124436.ROSMAP_PCC.2229-PCC.WGS.png
boxplot

ENSG00000216937.exon_skip_124436.ROSMAP_PCC.2546-PCC.WGS.png
boxplot

ENSG00000216937.exon_skip_124436.ROSMAP_PCC.R2386521-PCC.WGS.png
boxplot

ENSG00000216937.exon_skip_124436.ROSMAP_PCC.R2488731-PCC.WGS.png
boxplot

ENSG00000216937.exon_skip_124436.ROSMAP_PCC.R7095349-PCC.WGS.png
boxplot

ENSG00000216937.exon_skip_124436.ROSMAP_PCC.R7594705-PCC.WGS.png
boxplot

ENSG00000216937.exon_skip_124436.ROSMAP_PCC.R8626395-PCC.WGS.png
boxplot

ENSG00000216937.exon_skip_124436.ROSMAP_PCC.R9426782-PCC.WGS.png
boxplot

- 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

Top

AD stage-associated exon skippint events for CCDC7

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 CCDC7

sQTL information located at the skipped exons.

Tissue type	Exon skip ID	SNP id	Location	P-value	FDR
HCC	exon_skip_124436	rs16933387	chr10:32475044	2.581894e-13	1.399488e-10
HCC	exon_skip_124436	rs16933501	chr10:32570758	7.525999e-12	3.194589e-09
HCC	exon_skip_124436	rs41392550	chr10:32578186	7.525999e-12	3.194589e-09
HCC	exon_skip_258061	rs1999534	chr10:32556941	3.103715e-11	1.183674e-08
HCC	exon_skip_169777	rs1999534	chr10:32556941	3.736922e-08	8.236711e-06
HCC	exon_skip_141338	rs1999534	chr10:32556941	6.885546e-08	1.424772e-05
HCC	exon_skip_141338	rs2990969	chr10:32605408	1.103442e-05	1.367676e-03
HCC	exon_skip_141338	rs2990970	chr10:32605512	1.684752e-05	1.991177e-03
HCC	exon_skip_141338	rs1413977	chr10:32662483	5.041963e-05	5.083510e-03
HCC	exon_skip_141338	rs2947068	chr10:32545178	1.192257e-04	1.066717e-02
HCC	exon_skip_141338	rs7899433	chr10:32666158	1.219202e-04	1.085908e-02
HCC	exon_skip_141338	rs2947069	chr10:32546380	3.037670e-04	2.279564e-02
PCC	exon_skip_141338	rs1999534	chr10:32556941	3.466030e-11	3.854858e-08
PCC	exon_skip_258061	rs1999534	chr10:32556941	1.959679e-09	1.335554e-06
PCC	exon_skip_124436	rs16933387	chr10:32475044	2.966688e-08	1.591469e-05
PCC	exon_skip_124436	rs16933501	chr10:32570758	3.625535e-08	1.904466e-05
PCC	exon_skip_124436	rs41392550	chr10:32578186	3.625535e-08	1.904466e-05
PCC	exon_skip_221255	rs1999534	chr10:32556941	4.956823e-06	1.382727e-03
PCC	exon_skip_141338	rs1413977	chr10:32662483	1.917239e-05	4.450185e-03
PCC	exon_skip_141338	rs1577372	chr10:32649454	4.934808e-05	9.847697e-03
PCC	exon_skip_141338	rs1763788	chr10:32628925	7.181310e-05	1.326918e-02
PCC	exon_skip_258061	rs2990970	chr10:32605512	9.479180e-05	1.658080e-02
PCC	exon_skip_141338	rs1762529	chr10:32679152	1.382576e-04	2.227781e-02
PCC	exon_skip_141338	rs7899433	chr10:32666158	1.734891e-04	2.668294e-02

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Correlation with RNA binding proteins (RBPs) for CCDC7

Correlated RBP and related information.

Tissue type	RBP name	Exon skip ID	Correlation coeifficient	P-value
IFG	IGF2BP2	exon_skip_174165	-4.363382e-01	3.738425e-02
IFG	ELAVL4	exon_skip_192387	4.546290e-01	1.719763e-02
IFG	ELAVL4	exon_skip_103369	4.082508e-01	3.451012e-02
IFG	NUP42	exon_skip_151447	-4.077644e-01	3.474679e-02
IFG	NOVA1	exon_skip_151447	-4.538371e-01	1.741696e-02
IFG	A1CF	exon_skip_258061	4.020162e-01	4.635690e-02
PG	HNRNPK	exon_skip_285051	-4.076425e-01	6.633348e-08
PG	NOVA1	exon_skip_285051	-4.536805e-01	1.187339e-09
PG	HNRNPK	exon_skip_151447	-4.069038e-01	7.041864e-08
PG	NOVA1	exon_skip_151447	-4.646884e-01	4.138343e-10
STG	NOVA1	exon_skip_105107	-4.074241e-01	4.642672e-04
STG	HNRNPK	exon_skip_153034	-5.087904e-01	1.288543e-05
STG	NUP42	exon_skip_153034	-5.783082e-01	3.670490e-07
STG	NOVA1	exon_skip_153034	-5.613799e-01	9.412342e-07
STG	NOVA1	exon_skip_149459	-4.009573e-01	4.391281e-04

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RelatedDrugs for CCDC7

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 CCDC7

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 CCDC7

Gene structures and expression levels for CCDC7

Exon skipping events with PSIs in ROSMAP, MSBB, and Mayo for CCDC7

Open reading frame (ORF) annotation in the exon skipping event for CCDC7

Infer the effects of exon skipping event on protein functional features for CCDC7

3'-UTR located exon skipping events that lost miRNA binding sites in CCDC7

SNVs in the skipped exons for CCDC7

AD stage-associated exon skippint events for CCDC7

Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for CCDC7

Correlation with RNA binding proteins (RBPs) for CCDC7

RelatedDrugs for CCDC7

RelatedDiseases for CCDC7