ExonSkipDB: functional annotation of exon skipping event in human

Gene summary for MFN1

Gene summary

Gene information	Gene symbol	MFN1
	Gene ID	55669
	Gene name	mitofusin 1
	Synonyms	hfzo1\|hfzo2
	Cytomap	3q26.33
	Type of gene	protein-coding
	Description	mitofusin-1fzo homologmitochondrial transmembrane GTPase FZO-2mitochondrial transmembrane GTPase Fzo-1putative transmembrane GTPasetransmembrane GTPase MFN1
	Modification date	20180523
	UniProtAcc	Q8IWA4
	Context	PubMed: MFN1 [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
MFN1	GO:0008053	mitochondrial fusion	20436456
MFN1	GO:0046039	GTP metabolic process	27920125

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Exon skipping events across known transcript of Ensembl for MFN1 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 MFN1

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 MFN1

Information of exkip skipping event in TCGA.

Exon skip ID	chr	Exons involved in exon skipping	Skipped exon	ENSG	ENSTs
exon_skip_379572	3	179065522:179065598:179066632:179066751:179069687:179069823	179066632:179066751	ENSG00000171109.14	ENST00000357390.4,ENST00000280653.7
exon_skip_379574	3	179069687:179069823:179076627:179076790:179080145:179080198	179076627:179076790	ENSG00000171109.14	ENST00000357390.4,ENST00000263969.5,ENST00000471841.1,ENST00000467174.2,ENST00000280653.7
exon_skip_379576	3	179076627:179076790:179080145:179080270:179082084:179082193	179080145:179080270	ENSG00000171109.14	ENST00000357390.4,ENST00000263969.5,ENST00000471841.1,ENST00000280653.7
exon_skip_379578	3	179082905:179083013:179085226:179085380:179085823:179085891	179085226:179085380	ENSG00000171109.14	ENST00000357390.4,ENST00000263969.5,ENST00000471841.1,ENST00000474903.1,ENST00000280653.7
exon_skip_379579	3	179085823:179085891:179093007:179093129:179094829:179094956	179093007:179093129	ENSG00000171109.14	ENST00000263969.5,ENST00000471841.1,ENST00000474903.1,ENST00000280653.7
exon_skip_379580	3	179085823:179085891:179093007:179093129:179095131:179095220	179093007:179093129	ENSG00000171109.14	ENST00000357390.4
exon_skip_379587	3	179093007:179093129:179094829:179094956:179095131:179095220	179094829:179094956	ENSG00000171109.14	ENST00000263969.5,ENST00000471841.1,ENST00000474903.1,ENST00000280653.7
exon_skip_379589	3	179094917:179094956:179095131:179095236:179096128:179096231	179095131:179095236	ENSG00000171109.14	ENST00000480636.1,ENST00000263969.5,ENST00000471841.1
exon_skip_379590	3	179094917:179094956:179095131:179095236:179103356:179103509	179095131:179095236	ENSG00000171109.14	ENST00000474903.1,ENST00000280653.7
exon_skip_379592	3	179095131:179095236:179096128:179096602:179103356:179103509	179096128:179096602	ENSG00000171109.14	ENST00000480636.1
exon_skip_379593	3	179104220:179104417:179107791:179107926:179109768:179110284	179107791:179107926	ENSG00000171109.14	ENST00000357390.4,ENST00000263969.5,ENST00000471841.1,ENST00000474903.1,ENST00000280653.7

PSI values of skipped exons in TCGA.

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Exon skipping events with PSIs in GTEx for MFN1

Information of exkip skipping event in GTEx

Exon skip ID	chr	Exons involved in exon skipping	Skipped exon	ENSG	ENSTs
exon_skip_379572	3	179065522:179065598:179066632:179066751:179069687:179069823	179066632:179066751	ENSG00000171109.14	ENST00000280653.7,ENST00000357390.4
exon_skip_379574	3	179069687:179069823:179076627:179076790:179080145:179080198	179076627:179076790	ENSG00000171109.14	ENST00000471841.1,ENST00000280653.7,ENST00000357390.4,ENST00000467174.2,ENST00000263969.5
exon_skip_379576	3	179076627:179076790:179080145:179080270:179082084:179082193	179080145:179080270	ENSG00000171109.14	ENST00000471841.1,ENST00000280653.7,ENST00000357390.4,ENST00000263969.5
exon_skip_379578	3	179082905:179083013:179085226:179085380:179085823:179085891	179085226:179085380	ENSG00000171109.14	ENST00000471841.1,ENST00000280653.7,ENST00000357390.4,ENST00000263969.5,ENST00000474903.1
exon_skip_379579	3	179085823:179085891:179093007:179093129:179094829:179094956	179093007:179093129	ENSG00000171109.14	ENST00000471841.1,ENST00000280653.7,ENST00000263969.5,ENST00000474903.1
exon_skip_379580	3	179085823:179085891:179093007:179093129:179095131:179095220	179093007:179093129	ENSG00000171109.14	ENST00000357390.4
exon_skip_379587	3	179093007:179093129:179094829:179094956:179095131:179095220	179094829:179094956	ENSG00000171109.14	ENST00000471841.1,ENST00000280653.7,ENST00000263969.5,ENST00000474903.1
exon_skip_379589	3	179094917:179094956:179095131:179095236:179096128:179096231	179095131:179095236	ENSG00000171109.14	ENST00000471841.1,ENST00000263969.5,ENST00000480636.1
exon_skip_379590	3	179094917:179094956:179095131:179095236:179103356:179103509	179095131:179095236	ENSG00000171109.14	ENST00000280653.7,ENST00000474903.1
exon_skip_379592	3	179095131:179095236:179096128:179096602:179103356:179103509	179096128:179096602	ENSG00000171109.14	ENST00000480636.1
exon_skip_379593	3	179104220:179104417:179107791:179107926:179109768:179110284	179107791:179107926	ENSG00000171109.14	ENST00000471841.1,ENST00000280653.7,ENST00000357390.4,ENST00000263969.5,ENST00000474903.1

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 MFN1

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
ENST00000263969	179076627	179076790	Frame-shift
ENST00000471841	179076627	179076790	Frame-shift
ENST00000263969	179080145	179080270	Frame-shift
ENST00000471841	179080145	179080270	Frame-shift
ENST00000263969	179085226	179085380	Frame-shift
ENST00000471841	179085226	179085380	Frame-shift
ENST00000263969	179093007	179093129	Frame-shift
ENST00000471841	179093007	179093129	Frame-shift
ENST00000263969	179094829	179094956	Frame-shift
ENST00000471841	179094829	179094956	Frame-shift
ENST00000263969	179095131	179095236	In-frame
ENST00000471841	179095131	179095236	In-frame
ENST00000263969	179107791	179107926	In-frame
ENST00000471841	179107791	179107926	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
ENST00000263969	179076627	179076790	Frame-shift
ENST00000471841	179076627	179076790	Frame-shift
ENST00000263969	179080145	179080270	Frame-shift
ENST00000471841	179080145	179080270	Frame-shift
ENST00000263969	179085226	179085380	Frame-shift
ENST00000471841	179085226	179085380	Frame-shift
ENST00000263969	179093007	179093129	Frame-shift
ENST00000471841	179093007	179093129	Frame-shift
ENST00000263969	179094829	179094956	Frame-shift
ENST00000471841	179094829	179094956	Frame-shift
ENST00000263969	179095131	179095236	In-frame
ENST00000471841	179095131	179095236	In-frame
ENST00000263969	179107791	179107926	In-frame
ENST00000471841	179107791	179107926	In-frame

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Infer the effects of exon skipping event on protein functional features for MFN1

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
ENST00000263969	2771	741	179095131	179095236	1316	1420	408	443
ENST00000471841	5241	741	179095131	179095236	1351	1455	408	443
ENST00000263969	2771	741	179107791	179107926	2104	2238	671	715
ENST00000471841	5241	741	179107791	179107926	2139	2273	671	715

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
ENST00000263969	2771	741	179095131	179095236	1316	1420	408	443
ENST00000471841	5241	741	179095131	179095236	1351	1455	408	443
ENST00000263969	2771	741	179107791	179107926	2104	2238	671	715
ENST00000471841	5241	741	179107791	179107926	2139	2273	671	715

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
Q8IWA4	408	443	371	741	Alternative sequence	ID=VSP_010363;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:14702039;Dbxref=PMID:14702039
Q8IWA4	408	443	371	741	Alternative sequence	ID=VSP_010363;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:14702039;Dbxref=PMID:14702039
Q8IWA4	408	443	1	741	Chain	ID=PRO_0000127672;Note=Mitofusin-1
Q8IWA4	408	443	1	741	Chain	ID=PRO_0000127672;Note=Mitofusin-1
Q8IWA4	408	443	371	408	Coiled coil	Ontology_term=ECO:0000255;evidence=ECO:0000255
Q8IWA4	408	443	371	408	Coiled coil	Ontology_term=ECO:0000255;evidence=ECO:0000255
Q8IWA4	408	443	410	431	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5GO4
Q8IWA4	408	443	410	431	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5GO4
Q8IWA4	408	443	415	415	Natural variant	ID=VAR_036115;Note=In a colorectal cancer sample%3B somatic mutation. D->H;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:16959974;Dbxref=PMID:16959974
Q8IWA4	408	443	415	415	Natural variant	ID=VAR_036115;Note=In a colorectal cancer sample%3B somatic mutation. D->H;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:16959974;Dbxref=PMID:16959974
Q8IWA4	408	443	1	584	Topological domain	Note=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q8IWA4	408	443	1	584	Topological domain	Note=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q8IWA4	671	715	371	741	Alternative sequence	ID=VSP_010363;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:14702039;Dbxref=PMID:14702039
Q8IWA4	671	715	371	741	Alternative sequence	ID=VSP_010363;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:14702039;Dbxref=PMID:14702039
Q8IWA4	671	715	1	741	Chain	ID=PRO_0000127672;Note=Mitofusin-1
Q8IWA4	671	715	1	741	Chain	ID=PRO_0000127672;Note=Mitofusin-1
Q8IWA4	671	715	679	734	Coiled coil	Ontology_term=ECO:0000255;evidence=ECO:0000255
Q8IWA4	671	715	679	734	Coiled coil	Ontology_term=ECO:0000255;evidence=ECO:0000255
Q8IWA4	671	715	705	705	Mutagenesis	Note=Impairs protein folding. Decreases GTPase activity. L->P;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269\|PubMed:27920125,ECO:0000269\|PubMed:28114303;Dbxref=PMID:27920125,PMID:28114303
Q8IWA4	671	715	705	705	Mutagenesis	Note=Impairs protein folding. Decreases GTPase activity. L->P;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269\|PubMed:27920125,ECO:0000269\|PubMed:28114303;Dbxref=PMID:27920125,PMID:28114303
Q8IWA4	671	715	703	734	Region	Note=Part of a helix bundle domain%2C formed by helices from N-terminal and C-terminal regions;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269\|PubMed:16959974,ECO:0000269\|PubMed:28114303;Dbxref=PMID:16959974,PMID:28114303
Q8IWA4	671	715	703	734	Region	Note=Part of a helix bundle domain%2C formed by helices from N-terminal and C-terminal regions;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269\|PubMed:16959974,ECO:0000269\|PubMed:28114303;Dbxref=PMID:16959974,PMID:28114303
Q8IWA4	671	715	688	688	Sequence conflict	Note=Q->H;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q8IWA4	671	715	688	688	Sequence conflict	Note=Q->H;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q8IWA4	671	715	630	741	Topological domain	Note=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q8IWA4	671	715	630	741	Topological domain	Note=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255

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
Q8IWA4	408	443	371	741	Alternative sequence	ID=VSP_010363;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:14702039;Dbxref=PMID:14702039
Q8IWA4	408	443	371	741	Alternative sequence	ID=VSP_010363;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:14702039;Dbxref=PMID:14702039
Q8IWA4	408	443	1	741	Chain	ID=PRO_0000127672;Note=Mitofusin-1
Q8IWA4	408	443	1	741	Chain	ID=PRO_0000127672;Note=Mitofusin-1
Q8IWA4	408	443	371	408	Coiled coil	Ontology_term=ECO:0000255;evidence=ECO:0000255
Q8IWA4	408	443	371	408	Coiled coil	Ontology_term=ECO:0000255;evidence=ECO:0000255
Q8IWA4	408	443	410	431	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5GO4
Q8IWA4	408	443	410	431	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5GO4
Q8IWA4	408	443	415	415	Natural variant	ID=VAR_036115;Note=In a colorectal cancer sample%3B somatic mutation. D->H;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:16959974;Dbxref=PMID:16959974
Q8IWA4	408	443	415	415	Natural variant	ID=VAR_036115;Note=In a colorectal cancer sample%3B somatic mutation. D->H;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:16959974;Dbxref=PMID:16959974
Q8IWA4	408	443	1	584	Topological domain	Note=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q8IWA4	408	443	1	584	Topological domain	Note=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q8IWA4	671	715	371	741	Alternative sequence	ID=VSP_010363;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:14702039;Dbxref=PMID:14702039
Q8IWA4	671	715	371	741	Alternative sequence	ID=VSP_010363;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:14702039;Dbxref=PMID:14702039
Q8IWA4	671	715	1	741	Chain	ID=PRO_0000127672;Note=Mitofusin-1
Q8IWA4	671	715	1	741	Chain	ID=PRO_0000127672;Note=Mitofusin-1
Q8IWA4	671	715	679	734	Coiled coil	Ontology_term=ECO:0000255;evidence=ECO:0000255
Q8IWA4	671	715	679	734	Coiled coil	Ontology_term=ECO:0000255;evidence=ECO:0000255
Q8IWA4	671	715	705	705	Mutagenesis	Note=Impairs protein folding. Decreases GTPase activity. L->P;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269\|PubMed:27920125,ECO:0000269\|PubMed:28114303;Dbxref=PMID:27920125,PMID:28114303
Q8IWA4	671	715	705	705	Mutagenesis	Note=Impairs protein folding. Decreases GTPase activity. L->P;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269\|PubMed:27920125,ECO:0000269\|PubMed:28114303;Dbxref=PMID:27920125,PMID:28114303
Q8IWA4	671	715	703	734	Region	Note=Part of a helix bundle domain%2C formed by helices from N-terminal and C-terminal regions;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269\|PubMed:16959974,ECO:0000269\|PubMed:28114303;Dbxref=PMID:16959974,PMID:28114303
Q8IWA4	671	715	703	734	Region	Note=Part of a helix bundle domain%2C formed by helices from N-terminal and C-terminal regions;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269\|PubMed:16959974,ECO:0000269\|PubMed:28114303;Dbxref=PMID:16959974,PMID:28114303
Q8IWA4	671	715	688	688	Sequence conflict	Note=Q->H;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q8IWA4	671	715	688	688	Sequence conflict	Note=Q->H;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q8IWA4	671	715	630	741	Topological domain	Note=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q8IWA4	671	715	630	741	Topological domain	Note=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255

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SNVs in the skipped exons for MFN1

- 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.

MFN1_BRCA_exon_skip_379593_psi_boxplot.png
boxplot

MFN1_LIHC_exon_skip_379593_psi_boxplot.png
boxplot

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

Cancer type	Sample	ESID	Skipped exon start	Skipped exon end	Mutation start	Mutation end	Mutation type	Reference seq	Mutation seq	AAchange
LIHC	TCGA-DD-A39Y-01	exon_skip_379572	179066633	179066751	179066741	179066741	Frame_Shift_Del	T	-	p.H34fs
LIHC	TCGA-DD-A1EG-01	exon_skip_379579 exon_skip_379580	179093008	179093129	179093086	179093086	Frame_Shift_Del	A	-	p.K352fs
LIHC	TCGA-DD-A1EG-01	exon_skip_379587	179094830	179094956	179094918	179094918	Frame_Shift_Del	A	-	p.K397fs
LIHC	TCGA-DD-A3A0-01	exon_skip_379592	179096129	179096602	179096194	179096194	Frame_Shift_Del	A	-	p.V465fs
LIHC	TCGA-DD-A3A0-01	exon_skip_379592	179096129	179096602	179096543	179096543	Frame_Shift_Del	T	-	p.F535fs
LIHC	TCGA-DD-A1EG-01	exon_skip_379592	179096129	179096602	179096565	179096565	Frame_Shift_Del	A	-	p.Q542fs
LIHC	TCGA-G3-A3CJ-01	exon_skip_379593	179107792	179107926	179107842	179107842	Frame_Shift_Del	A	-	p.Q688fs
STAD	TCGA-CG-5726-01	exon_skip_379574	179076628	179076790	179076773	179076774	Frame_Shift_Ins	-	A	p.E132fs
SKCM	TCGA-FR-A8YC-06	exon_skip_379587	179094830	179094956	179094917	179094918	Frame_Shift_Ins	-	A	p.KK395fs
LUAD	TCGA-53-7813-01	exon_skip_379578	179085227	179085380	179085233	179085233	Nonsense_Mutation	A	T	p.R254*
UCS	TCGA-ND-A4W6-01	exon_skip_379590 exon_skip_379589	179095132	179095236	179095162	179095162	Nonsense_Mutation	C	T	p.R419*
UCS	TCGA-ND-A4W6-01	exon_skip_379590 exon_skip_379589	179095132	179095236	179095162	179095162	Nonsense_Mutation	C	T	p.R419X
UCEC	TCGA-BS-A0UV-01	exon_skip_379592	179096129	179096602	179096177	179096177	Nonsense_Mutation	C	T	p.R460*
SKCM	TCGA-EE-A20H-06	exon_skip_379592	179096129	179096602	179096489	179096489	Nonsense_Mutation	C	T	p.Q517*
SKCM	TCGA-EE-A20H-06	exon_skip_379592	179096129	179096602	179096489	179096489	Nonsense_Mutation	C	T	p.Q517X
KIRC	TCGA-CJ-4920-01	exon_skip_379592	179096129	179096602	179096586	179096586	Nonsense_Mutation	C	A	p.S549*
KIRC	TCGA-CJ-4920-01	exon_skip_379592	179096129	179096602	179096586	179096586	Nonsense_Mutation	C	A	p.S549X
SARC	TCGA-DX-A8BP-01	exon_skip_379593	179107792	179107926	179107859	179107859	Nonsense_Mutation	G	T	p.E694*
HNSC	TCGA-BA-4076-01	exon_skip_379590 exon_skip_379589	179095132	179095236	179095131	179095131	Splice_Site	G	A	p.V409_splice
BRCA	TCGA-C8-A12V-01	exon_skip_379593	179107792	179107926	179107927	179107927	Splice_Site	G	T	e16+1

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

Depth of coverage in three exons	Mutation description
	Sample: TCGA-C8-A12V-01
	Cancer type: BRCA
	ESID: exon_skip_379593
	Skipped exon start: 179107792
	Skipped exon end: 179107926
	Mutation start: 179107927
	Mutation end: 179107927
	Mutation type: Splice_Site
	Reference seq: G
	Mutation seq: T
	AAchange: e16+1
exon_skip_379593_BRCA_TCGA-C8-A12V-01.png
	Sample: TCGA-BA-4076-01
	Cancer type: HNSC
	ESID: exon_skip_379589
	Skipped exon start: 179095132
	Skipped exon end: 179095236
	Mutation start: 179095131
	Mutation end: 179095131
	Mutation type: Splice_Site
	Reference seq: G
	Mutation seq: A
	AAchange: p.V409_splice
exon_skip_286384_HNSC_TCGA-BA-4076-01.png
exon_skip_379589_HNSC_TCGA-BA-4076-01.png
exon_skip_379590_HNSC_TCGA-BA-4076-01.png
exon_skip_57703_HNSC_TCGA-BA-4076-01.png
	Sample: TCGA-BA-4076-01
	Cancer type: HNSC
	ESID: exon_skip_379589
	Skipped exon start: 179095132
	Skipped exon end: 179095236
	Mutation start: 179095131
	Mutation end: 179095131
	Mutation type: Splice_Site
	Reference seq: G
	Mutation seq: A
	AAchange: p.V409_splice
exon_skip_286384_HNSC_TCGA-BA-4076-01.png
exon_skip_379589_HNSC_TCGA-BA-4076-01.png
exon_skip_379590_HNSC_TCGA-BA-4076-01.png
exon_skip_57703_HNSC_TCGA-BA-4076-01.png

- 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
HEC151_ENDOMETRIUM	179076628	179076790	179076774	179076774	Frame_Shift_Del	A	-	p.E132fs
NCIH520_LUNG	179085227	179085380	179085352	179085352	Frame_Shift_Del	G	-	p.K293fs
HEC59_ENDOMETRIUM	179094830	179094956	179094898	179094898	Frame_Shift_Del	T	-	p.L390fs
LS411N_LARGE_INTESTINE	179066633	179066751	179066689	179066689	Missense_Mutation	C	T	p.A17V
LC1F_LUNG	179066633	179066751	179066716	179066716	Missense_Mutation	T	A	p.L26Q
HSC2_UPPER_AERODIGESTIVE_TRACT	179066633	179066751	179066716	179066716	Missense_Mutation	T	A	p.L26Q
LC1SQSF_LUNG	179066633	179066751	179066716	179066716	Missense_Mutation	T	A	p.L26Q
LC1SQ_LUNG	179066633	179066751	179066716	179066716	Missense_Mutation	T	A	p.L26Q
IGR39_SKIN	179076628	179076790	179076737	179076737	Missense_Mutation	G	A	p.G120R
IGR37_SKIN	179076628	179076790	179076737	179076737	Missense_Mutation	G	A	p.G120R
SARC9371_BONE	179080146	179080270	179080237	179080237	Missense_Mutation	C	T	p.A168V
LIM1215_LARGE_INTESTINE	179085227	179085380	179085345	179085345	Missense_Mutation	C	A	p.A291D
HEC251_ENDOMETRIUM	179093008	179093129	179093044	179093044	Missense_Mutation	G	A	p.E338K
HEC1B_ENDOMETRIUM	179093008	179093129	179093083	179093083	Missense_Mutation	G	A	p.V351M
ESS1_ENDOMETRIUM	179094830	179094956	179094893	179094893	Missense_Mutation	G	T	p.M387I
RL952_ENDOMETRIUM	179095132	179095236	179095142	179095142	Missense_Mutation	C	T	p.A412V
HS600T_FIBROBLAST	179095132	179095236	179095160	179095160	Missense_Mutation	G	A	p.C418Y
SKCO1_LARGE_INTESTINE	179096129	179096602	179096153	179096153	Missense_Mutation	G	T	p.G452C
SNU1040_LARGE_INTESTINE	179096129	179096602	179096379	179096379	Missense_Mutation	T	C	p.L480S
SNU61_LARGE_INTESTINE	179096129	179096602	179096477	179096477	Missense_Mutation	T	C	p.C513R
HEC151_ENDOMETRIUM	179096129	179096602	179096507	179096507	Missense_Mutation	C	T	p.P523S
MELJUSO_SKIN	179096129	179096602	179096547	179096547	Missense_Mutation	T	G	p.L536W
HEC1A_ENDOMETRIUM	179107792	179107926	179107869	179107869	Missense_Mutation	G	T	p.R697I
HEC1_ENDOMETRIUM	179107792	179107926	179107869	179107869	Missense_Mutation	G	T	p.R697I
HEC1B_ENDOMETRIUM	179107792	179107926	179107869	179107869	Missense_Mutation	G	T	p.R697I
SKMEL5_SKIN	179107792	179107926	179107874	179107874	Missense_Mutation	C	T	p.P699S
HEC108_ENDOMETRIUM	179107792	179107926	179107885	179107885	Missense_Mutation	A	G	p.I702M

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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for MFN1

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 MFN1

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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for MFN1

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RelatedDrugs for MFN1

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 MFN1

Diseases associated with this gene.
(DisGeNet 4.0)

Gene	Disease ID	Disease name	# pubmeds	Source
MFN1	C2931673	Ceroid lipofuscinosis, neuronal 1, infantile	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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