ExonSkipDB: functional annotation of exon skipping event in human

Gene summary for TBC1D7

Gene summary

Gene information	Gene symbol	TBC1D7
	Gene ID	51256
	Gene name	TBC1 domain family member 7
	Synonyms	MGCPH\|PIG51\|TBC7
	Cytomap	6p24.1
	Type of gene	protein-coding
	Description	TBC1 domain family member 7TS complex subunit 3cell migration-inducing protein 23
	Modification date	20180519
	UniProtAcc	Q9P0N9
	Context	PubMed: TBC1D7 [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
TBC1D7	GO:0031398	positive regulation of protein ubiquitination	17658474
TBC1D7	GO:0043547	positive regulation of GTPase activity	17646400

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Exon skipping events across known transcript of Ensembl for TBC1D7 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 TBC1D7

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 TBC1D7

Information of exkip skipping event in TCGA.

Exon skip ID	chr	Exons involved in exon skipping	Skipped exon	ENSG	ENSTs
exon_skip_456245	6	13281660:13281785:13295027:13295130:13316802:13316940	13295027:13295130	ENSG00000145979.13	ENST00000421203.2
exon_skip_456280	6	13305308:13305419:13306629:13306759:13307831:13307977	13306629:13306759	ENSG00000145979.13	ENST00000606214.1,ENST00000356436.4,ENST00000379307.2,ENST00000343141.4,ENST00000379300.3
exon_skip_456292	6	13306722:13306759:13307827:13307977:13316802:13316940	13307827:13307977	ENSG00000145979.13	ENST00000607658.1
exon_skip_456294	6	13306722:13306759:13307831:13307977:13316802:13316940	13307831:13307977	ENSG00000145979.13	ENST00000422136.1,ENST00000606214.1,ENST00000356436.4,ENST00000450347.1,ENST00000379307.2,ENST00000452989.1,ENST00000379300.3,ENST00000446018.1
exon_skip_456301	6	13307945:13307977:13316802:13316940:13321139:13321213	13316802:13316940	ENSG00000145979.13	ENST00000422136.1,ENST00000607532.1,ENST00000606214.1,ENST00000356436.4,ENST00000607658.1,ENST00000450347.1,ENST00000379307.2,ENST00000420456.1,ENST00000452989.1,ENST00000379300.3,ENST00000446018.1
exon_skip_456308	6	13316929:13316940:13318329:13318425:13321139:13321213	13318329:13318425	ENSG00000145979.13	ENST00000607208.1
exon_skip_456313	6	13321139:13321327:13325325:13325406:13327018:13327138	13325325:13325406	ENSG00000145979.13	ENST00000422136.1,ENST00000428109.1,ENST00000607532.1,ENST00000356436.4,ENST00000421203.2,ENST00000606541.1,ENST00000343141.4,ENST00000416436.1,ENST00000379291.1,ENST00000379300.3

PSI values of skipped exons in TCGA.

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Exon skipping events with PSIs in GTEx for TBC1D7

Information of exkip skipping event in GTEx

Exon skip ID	chr	Exons involved in exon skipping	Skipped exon	ENSG	ENSTs
exon_skip_456245	6	13281660:13281785:13295027:13295130:13316802:13316940	13295027:13295130	ENSG00000145979.13	ENST00000421203.2
exon_skip_456280	6	13305308:13305419:13306629:13306759:13307831:13307977	13306629:13306759	ENSG00000145979.13	ENST00000606214.1,ENST00000356436.4,ENST00000379300.3,ENST00000379307.2,ENST00000343141.4
exon_skip_456292	6	13306722:13306759:13307827:13307977:13316802:13316940	13307827:13307977	ENSG00000145979.13	ENST00000607658.1
exon_skip_456294	6	13306722:13306759:13307831:13307977:13316802:13316940	13307831:13307977	ENSG00000145979.13	ENST00000606214.1,ENST00000356436.4,ENST00000379300.3,ENST00000379307.2,ENST00000452989.1,ENST00000450347.1,ENST00000422136.1,ENST00000446018.1
exon_skip_456301	6	13307945:13307977:13316802:13316940:13321139:13321213	13316802:13316940	ENSG00000145979.13	ENST00000606214.1,ENST00000356436.4,ENST00000379300.3,ENST00000379307.2,ENST00000607658.1,ENST00000452989.1,ENST00000450347.1,ENST00000422136.1,ENST00000446018.1,ENST00000607532.1,ENST00000420456.1
exon_skip_456308	6	13316929:13316940:13318329:13318425:13321139:13321213	13318329:13318425	ENSG00000145979.13	ENST00000607208.1
exon_skip_456313	6	13321139:13321327:13325325:13325406:13327018:13327138	13325325:13325406	ENSG00000145979.13	ENST00000421203.2,ENST00000356436.4,ENST00000379300.3,ENST00000343141.4,ENST00000422136.1,ENST00000607532.1,ENST00000428109.1,ENST00000416436.1,ENST00000379291.1,ENST00000606541.1

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 TBC1D7

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
ENST00000356436	13306629	13306759	Frame-shift
ENST00000379300	13306629	13306759	Frame-shift
ENST00000356436	13307831	13307977	Frame-shift
ENST00000379300	13307831	13307977	Frame-shift
ENST00000356436	13316802	13316940	In-frame
ENST00000379300	13316802	13316940	In-frame
ENST00000356436	13325325	13325406	In-frame
ENST00000379300	13325325	13325406	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
ENST00000356436	13306629	13306759	Frame-shift
ENST00000379300	13306629	13306759	Frame-shift
ENST00000356436	13307831	13307977	Frame-shift
ENST00000379300	13307831	13307977	Frame-shift
ENST00000356436	13316802	13316940	In-frame
ENST00000379300	13316802	13316940	In-frame
ENST00000356436	13325325	13325406	In-frame
ENST00000379300	13325325	13325406	In-frame

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Infer the effects of exon skipping event on protein functional features for TBC1D7

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
ENST00000356436	1133	293	13325325	13325406	197	277	37	64
ENST00000379300	1293	293	13325325	13325406	357	437	37	64
ENST00000356436	1133	293	13316802	13316940	466	603	127	173
ENST00000379300	1293	293	13316802	13316940	626	763	127	173

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
ENST00000356436	1133	293	13325325	13325406	197	277	37	64
ENST00000379300	1293	293	13325325	13325406	357	437	37	64
ENST00000356436	1133	293	13316802	13316940	466	603	127	173
ENST00000379300	1293	293	13316802	13316940	626	763	127	173

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
Q9P0N9	37	64	1	73	Alternative sequence	ID=VSP_044186;Note=In isoform 3. MTEDSQRNFRSVYYEKVGFRGVEEKKSLEILLKDDRLDTEKLCTFSQRFPLPSMYRALVWKVLLGILPPHHES->MEGASRNLASTPRV;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:14702039;Dbxref=PMID:14702039
Q9P0N9	37	64	1	73	Alternative sequence	ID=VSP_044186;Note=In isoform 3. MTEDSQRNFRSVYYEKVGFRGVEEKKSLEILLKDDRLDTEKLCTFSQRFPLPSMYRALVWKVLLGILPPHHES->MEGASRNLASTPRV;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:14702039;Dbxref=PMID:14702039
Q9P0N9	37	64	38	64	Alternative sequence	ID=VSP_041480;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|Ref.2
Q9P0N9	37	64	38	64	Alternative sequence	ID=VSP_041480;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|Ref.2
Q9P0N9	37	64	1	293	Chain	ID=PRO_0000208031;Note=TBC1 domain family member 7
Q9P0N9	37	64	1	293	Chain	ID=PRO_0000208031;Note=TBC1 domain family member 7
Q9P0N9	37	64	50	231	Domain	Note=Rab-GAP TBC;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00163
Q9P0N9	37	64	50	231	Domain	Note=Rab-GAP TBC;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00163
Q9P0N9	37	64	39	48	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:3QWL
Q9P0N9	37	64	39	48	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:3QWL
Q9P0N9	37	64	53	63	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:3QWL
Q9P0N9	37	64	53	63	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:3QWL
Q9P0N9	37	64	59	59	Sequence conflict	Note=V->I;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q9P0N9	37	64	59	59	Sequence conflict	Note=V->I;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q9P0N9	127	173	127	172	Alternative sequence	ID=VSP_044892;Note=In isoform 4. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|Ref.5
Q9P0N9	127	173	127	172	Alternative sequence	ID=VSP_044892;Note=In isoform 4. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|Ref.5
Q9P0N9	127	173	1	293	Chain	ID=PRO_0000208031;Note=TBC1 domain family member 7
Q9P0N9	127	173	1	293	Chain	ID=PRO_0000208031;Note=TBC1 domain family member 7
Q9P0N9	127	173	50	231	Domain	Note=Rab-GAP TBC;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00163
Q9P0N9	127	173	50	231	Domain	Note=Rab-GAP TBC;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00163
Q9P0N9	127	173	129	144	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:3QWL
Q9P0N9	127	173	129	144	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:3QWL
Q9P0N9	127	173	148	163	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:3QWL
Q9P0N9	127	173	148	163	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:3QWL
Q9P0N9	127	173	170	172	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:3QWL
Q9P0N9	127	173	170	172	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:3QWL
Q9P0N9	127	173	173	184	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:3QWL
Q9P0N9	127	173	173	184	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:3QWL
Q9P0N9	127	173	136	136	Natural variant	ID=VAR_052538;Note=A->T;Dbxref=dbSNP:rs9381921
Q9P0N9	127	173	136	136	Natural variant	ID=VAR_052538;Note=A->T;Dbxref=dbSNP:rs9381921
Q9P0N9	127	173	164	169	Turn	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:3QWL
Q9P0N9	127	173	164	169	Turn	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:3QWL

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
Q9P0N9	37	64	1	73	Alternative sequence	ID=VSP_044186;Note=In isoform 3. MTEDSQRNFRSVYYEKVGFRGVEEKKSLEILLKDDRLDTEKLCTFSQRFPLPSMYRALVWKVLLGILPPHHES->MEGASRNLASTPRV;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:14702039;Dbxref=PMID:14702039
Q9P0N9	37	64	1	73	Alternative sequence	ID=VSP_044186;Note=In isoform 3. MTEDSQRNFRSVYYEKVGFRGVEEKKSLEILLKDDRLDTEKLCTFSQRFPLPSMYRALVWKVLLGILPPHHES->MEGASRNLASTPRV;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:14702039;Dbxref=PMID:14702039
Q9P0N9	37	64	38	64	Alternative sequence	ID=VSP_041480;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|Ref.2
Q9P0N9	37	64	38	64	Alternative sequence	ID=VSP_041480;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|Ref.2
Q9P0N9	37	64	1	293	Chain	ID=PRO_0000208031;Note=TBC1 domain family member 7
Q9P0N9	37	64	1	293	Chain	ID=PRO_0000208031;Note=TBC1 domain family member 7
Q9P0N9	37	64	50	231	Domain	Note=Rab-GAP TBC;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00163
Q9P0N9	37	64	50	231	Domain	Note=Rab-GAP TBC;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00163
Q9P0N9	37	64	39	48	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:3QWL
Q9P0N9	37	64	39	48	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:3QWL
Q9P0N9	37	64	53	63	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:3QWL
Q9P0N9	37	64	53	63	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:3QWL
Q9P0N9	37	64	59	59	Sequence conflict	Note=V->I;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q9P0N9	37	64	59	59	Sequence conflict	Note=V->I;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q9P0N9	127	173	127	172	Alternative sequence	ID=VSP_044892;Note=In isoform 4. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|Ref.5
Q9P0N9	127	173	127	172	Alternative sequence	ID=VSP_044892;Note=In isoform 4. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|Ref.5
Q9P0N9	127	173	1	293	Chain	ID=PRO_0000208031;Note=TBC1 domain family member 7
Q9P0N9	127	173	1	293	Chain	ID=PRO_0000208031;Note=TBC1 domain family member 7
Q9P0N9	127	173	50	231	Domain	Note=Rab-GAP TBC;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00163
Q9P0N9	127	173	50	231	Domain	Note=Rab-GAP TBC;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00163
Q9P0N9	127	173	129	144	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:3QWL
Q9P0N9	127	173	129	144	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:3QWL
Q9P0N9	127	173	148	163	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:3QWL
Q9P0N9	127	173	148	163	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:3QWL
Q9P0N9	127	173	170	172	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:3QWL
Q9P0N9	127	173	170	172	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:3QWL
Q9P0N9	127	173	173	184	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:3QWL
Q9P0N9	127	173	173	184	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:3QWL
Q9P0N9	127	173	136	136	Natural variant	ID=VAR_052538;Note=A->T;Dbxref=dbSNP:rs9381921
Q9P0N9	127	173	136	136	Natural variant	ID=VAR_052538;Note=A->T;Dbxref=dbSNP:rs9381921
Q9P0N9	127	173	164	169	Turn	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:3QWL
Q9P0N9	127	173	164	169	Turn	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:3QWL

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SNVs in the skipped exons for TBC1D7

- 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
CESC	TCGA-C5-A1M7-01	exon_skip_456280	13306630	13306759	13306678	13306682	Frame_Shift_Del	TTTTA	-	p.IK248fs
THCA	TCGA-DJ-A2PT-01	exon_skip_456294 exon_skip_456292	13307828	13307977	13307947	13307947	Nonsense_Mutation	C	A	p.E157*
THCA	TCGA-DJ-A2PT-01	exon_skip_456294 exon_skip_456292	13307832	13307977	13307947	13307947	Nonsense_Mutation	C	A	p.E157*

- 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
JHUEM7_ENDOMETRIUM	13306630	13306759	13306676	13306676	Missense_Mutation	A	C	p.V250G
HEC251_ENDOMETRIUM	13306630	13306759	13306704	13306704	Missense_Mutation	C	T	p.E241K
CHAGOK1_LUNG	13306630	13306759	13306730	13306730	Missense_Mutation	C	A	p.C232F
SNU1_STOMACH	13316803	13316940	13316847	13316847	Missense_Mutation	C	T	p.V159M
NCIH1648_LUNG	13325326	13325406	13325336	13325336	Missense_Mutation	C	A	p.K61N
MOLT16_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	13325326	13325406	13325352	13325352	Missense_Mutation	C	T	p.R56H
HUPT4_PANCREAS	13306630	13306759	13306749	13306749	Nonsense_Mutation	T	A	p.K226*

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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for TBC1D7

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
exon_skip_456308	6	13316929:13316940:13318329:13318425:13321139:13321213	13318329:13318425	ENST00000607208.1	LGG	rs34307819	chr6:13318328	A/G	1.26e-06
exon_skip_456308	6	13316929:13316940:13318329:13318425:13321139:13321213	13318329:13318425	ENST00000607208.1	LGG	rs34307819	chr6:13318328	A/G	2.96e-04
exon_skip_456308	6	13316929:13316940:13318329:13318425:13321139:13321213	13318329:13318425	ENST00000607208.1	LUAD	rs34307819	chr6:13318328	A/G	1.24e-03
exon_skip_456308	6	13316929:13316940:13318329:13318425:13321139:13321213	13318329:13318425	ENST00000607208.1	PRAD	rs34307819	chr6:13318328	A/G	3.58e-05
exon_skip_456292	6	13306722:13306759:13307827:13307977:13316802:13316940	13307827:13307977	ENST00000607658.1	ACC	rs2439537	chr6:13307824	C/T	5.06e-09
exon_skip_456292	6	13306722:13306759:13307827:13307977:13316802:13316940	13307827:13307977	ENST00000607658.1	GBM	rs2439537	chr6:13307824	C/T	6.39e-26
exon_skip_456292	6	13306722:13306759:13307827:13307977:13316802:13316940	13307827:13307977	ENST00000607658.1	GBM	rs2439537	chr6:13307824	C/T	1.14e-05
exon_skip_456292	6	13306722:13306759:13307827:13307977:13316802:13316940	13307827:13307977	ENST00000607658.1	COAD	rs2439537	chr6:13307824	C/T	2.36e-45
exon_skip_456292	6	13306722:13306759:13307827:13307977:13316802:13316940	13307827:13307977	ENST00000607658.1	COAD	rs2439537	chr6:13307824	C/T	3.14e-05
exon_skip_456292	6	13306722:13306759:13307827:13307977:13316802:13316940	13307827:13307977	ENST00000607658.1	BLCA	rs2439537	chr6:13307824	C/T	2.21e-67
exon_skip_456292	6	13306722:13306759:13307827:13307977:13316802:13316940	13307827:13307977	ENST00000607658.1	BLCA	rs2439537	chr6:13307824	C/T	6.32e-05
exon_skip_456292	6	13306722:13306759:13307827:13307977:13316802:13316940	13307827:13307977	ENST00000607658.1	ESCA	rs2439537	chr6:13307824	C/T	1.75e-24
exon_skip_456292	6	13306722:13306759:13307827:13307977:13316802:13316940	13307827:13307977	ENST00000607658.1	HNSC	rs2439537	chr6:13307824	C/T	7.99e-66
exon_skip_456292	6	13306722:13306759:13307827:13307977:13316802:13316940	13307827:13307977	ENST00000607658.1	HNSC	rs2439537	chr6:13307824	C/T	4.93e-04
exon_skip_456292	6	13306722:13306759:13307827:13307977:13316802:13316940	13307827:13307977	ENST00000607658.1	BRCA	rs2439537	chr6:13307824	C/T	8.03e-169
exon_skip_456292	6	13306722:13306759:13307827:13307977:13316802:13316940	13307827:13307977	ENST00000607658.1	BRCA	rs2439537	chr6:13307824	C/T	1.02e-08
exon_skip_456292	6	13306722:13306759:13307827:13307977:13316802:13316940	13307827:13307977	ENST00000607658.1	BRCA	rs2439537	chr6:13307824	C/T	3.53e-05
exon_skip_456292	6	13306722:13306759:13307827:13307977:13316802:13316940	13307827:13307977	ENST00000607658.1	KIRP	rs2439537	chr6:13307824	C/T	1.28e-63
exon_skip_456292	6	13306722:13306759:13307827:13307977:13316802:13316940	13307827:13307977	ENST00000607658.1	KIRP	rs2439537	chr6:13307824	C/T	7.35e-04
exon_skip_456292	6	13306722:13306759:13307827:13307977:13316802:13316940	13307827:13307977	ENST00000607658.1	LGG	rs2439537	chr6:13307824	C/T	1.34e-92
exon_skip_456292	6	13306722:13306759:13307827:13307977:13316802:13316940	13307827:13307977	ENST00000607658.1	LGG	rs2439537	chr6:13307824	C/T	3.13e-18
exon_skip_456292	6	13306722:13306759:13307827:13307977:13316802:13316940	13307827:13307977	ENST00000607658.1	LGG	rs2439537	chr6:13307824	C/T	2.60e-06
exon_skip_456292	6	13306722:13306759:13307827:13307977:13316802:13316940	13307827:13307977	ENST00000607658.1	KIRC	rs2439537	chr6:13307824	C/T	1.23e-74
exon_skip_456292	6	13306722:13306759:13307827:13307977:13316802:13316940	13307827:13307977	ENST00000607658.1	KIRC	rs2439537	chr6:13307824	C/T	1.33e-05
exon_skip_456292	6	13306722:13306759:13307827:13307977:13316802:13316940	13307827:13307977	ENST00000607658.1	LUAD	rs2439537	chr6:13307824	C/T	6.50e-82
exon_skip_456292	6	13306722:13306759:13307827:13307977:13316802:13316940	13307827:13307977	ENST00000607658.1	MESO	rs2439537	chr6:13307824	C/T	7.79e-11
exon_skip_456292	6	13306722:13306759:13307827:13307977:13316802:13316940	13307827:13307977	ENST00000607658.1	LIHC	rs2439537	chr6:13307824	C/T	5.86e-54
exon_skip_456292	6	13306722:13306759:13307827:13307977:13316802:13316940	13307827:13307977	ENST00000607658.1	LIHC	rs2439537	chr6:13307824	C/T	9.50e-06
exon_skip_456292	6	13306722:13306759:13307827:13307977:13316802:13316940	13307827:13307977	ENST00000607658.1	LUSC	rs2439537	chr6:13307824	C/T	3.64e-85
exon_skip_456292	6	13306722:13306759:13307827:13307977:13316802:13316940	13307827:13307977	ENST00000607658.1	LUSC	rs2439537	chr6:13307824	C/T	1.22e-04
exon_skip_456292	6	13306722:13306759:13307827:13307977:13316802:13316940	13307827:13307977	ENST00000607658.1	LUSC	rs2439537	chr6:13307824	C/T	2.10e-04
exon_skip_456292	6	13306722:13306759:13307827:13307977:13316802:13316940	13307827:13307977	ENST00000607658.1	LUSC	rs2439537	chr6:13307824	C/T	9.21e-04
exon_skip_456292	6	13306722:13306759:13307827:13307977:13316802:13316940	13307827:13307977	ENST00000607658.1	OV	rs2439537	chr6:13307824	C/T	1.99e-52
exon_skip_456292	6	13306722:13306759:13307827:13307977:13316802:13316940	13307827:13307977	ENST00000607658.1	OV	rs2439537	chr6:13307824	C/T	5.65e-05
exon_skip_456292	6	13306722:13306759:13307827:13307977:13316802:13316940	13307827:13307977	ENST00000607658.1	OV	rs2439537	chr6:13307824	C/T	2.13e-03
exon_skip_456292	6	13306722:13306759:13307827:13307977:13316802:13316940	13307827:13307977	ENST00000607658.1	READ	rs2439537	chr6:13307824	C/T	5.44e-18
exon_skip_456292	6	13306722:13306759:13307827:13307977:13316802:13316940	13307827:13307977	ENST00000607658.1	PCPG	rs2439537	chr6:13307824	C/T	5.37e-25
exon_skip_456292	6	13306722:13306759:13307827:13307977:13316802:13316940	13307827:13307977	ENST00000607658.1	PCPG	rs2439537	chr6:13307824	C/T	3.05e-08
exon_skip_456292	6	13306722:13306759:13307827:13307977:13316802:13316940	13307827:13307977	ENST00000607658.1	PAAD	rs2439537	chr6:13307824	C/T	1.59e-21
exon_skip_456292	6	13306722:13306759:13307827:13307977:13316802:13316940	13307827:13307977	ENST00000607658.1	PRAD	rs2439537	chr6:13307824	C/T	1.41e-84
exon_skip_456292	6	13306722:13306759:13307827:13307977:13316802:13316940	13307827:13307977	ENST00000607658.1	PRAD	rs2439537	chr6:13307824	C/T	1.50e-04
exon_skip_456292	6	13306722:13306759:13307827:13307977:13316802:13316940	13307827:13307977	ENST00000607658.1	SARC	rs2439537	chr6:13307824	C/T	5.75e-33
exon_skip_456292	6	13306722:13306759:13307827:13307977:13316802:13316940	13307827:13307977	ENST00000607658.1	THYM	rs2439537	chr6:13307824	C/T	1.56e-17
exon_skip_456292	6	13306722:13306759:13307827:13307977:13316802:13316940	13307827:13307977	ENST00000607658.1	TGCT	rs2439537	chr6:13307824	C/T	3.80e-31
exon_skip_456292	6	13306722:13306759:13307827:13307977:13316802:13316940	13307827:13307977	ENST00000607658.1	SKCM	rs2439537	chr6:13307824	C/T	3.33e-23
exon_skip_456292	6	13306722:13306759:13307827:13307977:13316802:13316940	13307827:13307977	ENST00000607658.1	STAD	rs2439537	chr6:13307824	C/T	1.88e-42
exon_skip_456292	6	13306722:13306759:13307827:13307977:13316802:13316940	13307827:13307977	ENST00000607658.1	THCA	rs2439537	chr6:13307824	C/T	1.34e-74
exon_skip_456292	6	13306722:13306759:13307827:13307977:13316802:13316940	13307827:13307977	ENST00000607658.1	THCA	rs2439537	chr6:13307824	C/T	2.76e-06
exon_skip_456292	6	13306722:13306759:13307827:13307977:13316802:13316940	13307827:13307977	ENST00000607658.1	UVM	rs2439537	chr6:13307824	C/T	1.19e-15
exon_skip_456292	6	13306722:13306759:13307827:13307977:13316802:13316940	13307827:13307977	ENST00000607658.1	UCS	rs2439537	chr6:13307824	C/T	2.47e-06
exon_skip_456292	6	13306722:13306759:13307827:13307977:13316802:13316940	13307827:13307977	ENST00000607658.1	UCEC	rs2439537	chr6:13307824	C/T	4.65e-29

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Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for TBC1D7

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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for TBC1D7

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RelatedDrugs for TBC1D7

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 TBC1D7

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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