ExonSkipDB: functional annotation of exon skipping event in human

Gene summary for CHCHD7

Gene summary

Gene information	Gene symbol	CHCHD7
	Gene ID	79145
	Gene name	coiled-coil-helix-coiled-coil-helix domain containing 7
	Synonyms	COX23
	Cytomap	8q12.1
	Type of gene	protein-coding
	Description	coiled-coil-helix-coiled-coil-helix domain-containing protein 7COX23 cytochrome c oxidase assembly homolog
	Modification date	20180519
	UniProtAcc	Q9BUK0
	Context	PubMed: CHCHD7 [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 CHCHD7 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 CHCHD7

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 CHCHD7

Information of exkip skipping event in TCGA.

Exon skip ID	chr	Exons involved in exon skipping	Skipped exon	ENSG	ENSTs
exon_skip_483618	8	57124368:57124396:57125320:57125448:57127156:57127226	57125320:57125448	ENSG00000170791.13	ENST00000523975.1,ENST00000521524.1,ENST00000518801.1
exon_skip_483622	8	57124368:57124396:57125320:57125468:57127156:57127226	57125320:57125468	ENSG00000170791.13	ENST00000523532.1,ENST00000521982.1,ENST00000523667.1,ENST00000396723.5,ENST00000303759.3
exon_skip_483625	8	57124368:57124396:57127156:57127226:57128991:57129065	57127156:57127226	ENSG00000170791.13	ENST00000517933.1,ENST00000355315.3,ENST00000523061.1
exon_skip_483634	8	57125320:57125448:57127156:57127226:57128991:57129065	57127156:57127226	ENSG00000170791.13	ENST00000523975.1
exon_skip_483636	8	57127156:57127226:57128947:57129065:57129889:57129971	57128947:57129065	ENSG00000170791.13	ENST00000521524.1
exon_skip_483637	8	57127156:57127226:57128947:57129090:57129889:57129971	57128947:57129090	ENSG00000170791.13	ENST00000522166.1,ENST00000521831.1,ENST00000518801.1,ENST00000519367.1
exon_skip_483638	8	57127156:57127226:57128991:57129065:57129889:57129971	57128991:57129065	ENSG00000170791.13	ENST00000523061.1
exon_skip_483639	8	57127156:57127226:57128991:57129090:57129889:57129971	57128991:57129090	ENSG00000170791.13	ENST00000523975.1,ENST00000396723.5,ENST00000355315.3,ENST00000303759.3,ENST00000518944.1
exon_skip_483641	8	57128991:57129065:57129238:57129313:57129889:57129971	57129238:57129313	ENSG00000170791.13	ENST00000523667.1
exon_skip_483642	8	57128991:57129090:57129238:57129313:57129889:57129971	57129238:57129313	ENSG00000170791.13	ENST00000523532.1,ENST00000521982.1

PSI values of skipped exons in TCGA.

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Exon skipping events with PSIs in GTEx for CHCHD7

Information of exkip skipping event in GTEx

Exon skip ID	chr	Exons involved in exon skipping	Skipped exon	ENSG	ENSTs
exon_skip_483618	8	57124368:57124396:57125320:57125448:57127156:57127226	57125320:57125448	ENSG00000170791.13	ENST00000518801.1,ENST00000523975.1,ENST00000521524.1
exon_skip_483622	8	57124368:57124396:57125320:57125468:57127156:57127226	57125320:57125468	ENSG00000170791.13	ENST00000303759.3,ENST00000523532.1,ENST00000523667.1,ENST00000521982.1,ENST00000396723.5
exon_skip_483625	8	57124368:57124396:57127156:57127226:57128991:57129065	57127156:57127226	ENSG00000170791.13	ENST00000355315.3,ENST00000517933.1,ENST00000523061.1
exon_skip_483634	8	57125320:57125448:57127156:57127226:57128991:57129065	57127156:57127226	ENSG00000170791.13	ENST00000523975.1
exon_skip_483636	8	57127156:57127226:57128947:57129065:57129889:57129971	57128947:57129065	ENSG00000170791.13	ENST00000521524.1
exon_skip_483637	8	57127156:57127226:57128947:57129090:57129889:57129971	57128947:57129090	ENSG00000170791.13	ENST00000521831.1,ENST00000522166.1,ENST00000518801.1,ENST00000519367.1
exon_skip_483638	8	57127156:57127226:57128991:57129065:57129889:57129971	57128991:57129065	ENSG00000170791.13	ENST00000523061.1
exon_skip_483639	8	57127156:57127226:57128991:57129090:57129889:57129971	57128991:57129090	ENSG00000170791.13	ENST00000355315.3,ENST00000303759.3,ENST00000523975.1,ENST00000396723.5,ENST00000518944.1
exon_skip_483641	8	57128991:57129065:57129238:57129313:57129889:57129971	57129238:57129313	ENSG00000170791.13	ENST00000523667.1
exon_skip_483642	8	57128991:57129090:57129238:57129313:57129889:57129971	57129238:57129313	ENSG00000170791.13	ENST00000523532.1,ENST00000521982.1

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 CHCHD7

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
ENST00000355315	57127156	57127226	5CDS-5UTR
ENST00000355315	57128991	57129090	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
ENST00000355315	57127156	57127226	5CDS-5UTR
ENST00000355315	57128991	57129090	In-frame

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Infer the effects of exon skipping event on protein functional features for CHCHD7

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
ENST00000355315	1552	85	57128991	57129090	154	252	18	51

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
ENST00000355315	1552	85	57128991	57129090	154	252	18	51

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
Q9BUK0	18	51	19	85	Alternative sequence	ID=VSP_038077;Note=In isoform 3 and isoform 5. ESDASTRCLDENNYDRERCSTYFLRYKNCRRFWNSIVMQRRKNGVKPFMPTAAERDEILRAVGNMPY->ILFYLLNDASLISVRNLMLPPDVWMKITMTGKGVPLTS;Ontology_term=ECO:0000303;evidence=ECO:0000303\|Ref.1
Q9BUK0	18	51	1	85	Chain	ID=PRO_0000129171;Note=Coiled-coil-helix-coiled-coil-helix domain-containing protein 7
Q9BUK0	18	51	16	47	Disulfide bond	Ontology_term=ECO:0000255,ECO:0000269;evidence=ECO:0000255\|PROSITE-ProRule:PRU01150,ECO:0000269\|PubMed:22842048;Dbxref=PMID:22842048
Q9BUK0	18	51	26	37	Disulfide bond	Ontology_term=ECO:0000255,ECO:0000269;evidence=ECO:0000255\|PROSITE-ProRule:PRU01150,ECO:0000269\|PubMed:22842048;Dbxref=PMID:22842048
Q9BUK0	18	51	13	55	Domain	Note=CHCH;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU01150
Q9BUK0	18	51	17	29	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2LQT
Q9BUK0	18	51	38	59	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2LQT
Q9BUK0	18	51	16	26	Motif	Note=Cx9C motif 1;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU01150
Q9BUK0	18	51	37	47	Motif	Note=Cx9C motif 2;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU01150
Q9BUK0	18	51	30	32	Turn	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2LQT
Q9BUK0	18	51	34	37	Turn	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2LQT

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
Q9BUK0	18	51	19	85	Alternative sequence	ID=VSP_038077;Note=In isoform 3 and isoform 5. ESDASTRCLDENNYDRERCSTYFLRYKNCRRFWNSIVMQRRKNGVKPFMPTAAERDEILRAVGNMPY->ILFYLLNDASLISVRNLMLPPDVWMKITMTGKGVPLTS;Ontology_term=ECO:0000303;evidence=ECO:0000303\|Ref.1
Q9BUK0	18	51	1	85	Chain	ID=PRO_0000129171;Note=Coiled-coil-helix-coiled-coil-helix domain-containing protein 7
Q9BUK0	18	51	16	47	Disulfide bond	Ontology_term=ECO:0000255,ECO:0000269;evidence=ECO:0000255\|PROSITE-ProRule:PRU01150,ECO:0000269\|PubMed:22842048;Dbxref=PMID:22842048
Q9BUK0	18	51	26	37	Disulfide bond	Ontology_term=ECO:0000255,ECO:0000269;evidence=ECO:0000255\|PROSITE-ProRule:PRU01150,ECO:0000269\|PubMed:22842048;Dbxref=PMID:22842048
Q9BUK0	18	51	13	55	Domain	Note=CHCH;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU01150
Q9BUK0	18	51	17	29	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2LQT
Q9BUK0	18	51	38	59	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2LQT
Q9BUK0	18	51	16	26	Motif	Note=Cx9C motif 1;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU01150
Q9BUK0	18	51	37	47	Motif	Note=Cx9C motif 2;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU01150
Q9BUK0	18	51	30	32	Turn	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2LQT
Q9BUK0	18	51	34	37	Turn	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2LQT

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SNVs in the skipped exons for CHCHD7

- 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.

CHCHD7_LIHC_exon_skip_483618_psi_boxplot.png
boxplot

CHCHD7_LIHC_exon_skip_483622_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-G3-A3CJ-01	exon_skip_483618	57125321	57125448	57125436	57125436	Frame_Shift_Del	A	-	p.Q3fs
LIHC	TCGA-G3-A3CJ-01	exon_skip_483622	57125321	57125468	57125436	57125436	Frame_Shift_Del	A	-	p.Q3fs
STAD	TCGA-CG-4442-01	exon_skip_483639 exon_skip_483637	57128948	57129090	57129070	57129070	Frame_Shift_Del	A	-	p.Y69fs
STAD	TCGA-CG-4442-01	exon_skip_483639 exon_skip_483637	57128948	57129090	57129070	57129070	Frame_Shift_Del	A	-	p.Y69X
STAD	TCGA-CG-4442-01	exon_skip_483639 exon_skip_483637	57128992	57129090	57129070	57129070	Frame_Shift_Del	A	-	p.Y69fs
STAD	TCGA-CG-4442-01	exon_skip_483639 exon_skip_483637	57128992	57129090	57129070	57129070	Frame_Shift_Del	A	-	p.Y69X
UCEC	TCGA-D1-A16N-01	exon_skip_483625 exon_skip_483634	57127157	57127226	57127228	57127228	Splice_Site	T	C	e2+2
UCEC	TCGA-D1-A16N-01	exon_skip_483625 exon_skip_483634	57127157	57127226	57127228	57127228	Splice_Site	T	C	p.S43_splice

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

Depth of coverage in three exons	Mutation description
	Sample: TCGA-G3-A3CJ-01
	Cancer type: LIHC
	ESID: exon_skip_483622
	Skipped exon start: 57125321
	Skipped exon end: 57125468
	Mutation start: 57125436
	Mutation end: 57125436
	Mutation type: Frame_Shift_Del
	Reference seq: A
	Mutation seq: -
	AAchange: p.Q3fs
	Sample: TCGA-G3-A3CJ-01
	Cancer type: LIHC
	ESID: exon_skip_483618
	Skipped exon start: 57125321
	Skipped exon end: 57125448
	Mutation start: 57125436
	Mutation end: 57125436
	Mutation type: Frame_Shift_Del
	Reference seq: A
	Mutation seq: -
	AAchange: p.Q3fs
exon_skip_101516_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_106378_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_106524_LIHC_TCGA-G3-A3CJ-01.png
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exon_skip_109778_LIHC_TCGA-G3-A3CJ-01.png
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exon_skip_14564_LIHC_TCGA-G3-A3CJ-01.png
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exon_skip_1873_LIHC_TCGA-G3-A3CJ-01.png
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exon_skip_300058_LIHC_TCGA-G3-A3CJ-01.png
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exon_skip_375393_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_380574_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_382000_LIHC_TCGA-G3-A3CJ-01.png
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exon_skip_387684_LIHC_TCGA-G3-A3CJ-01.png
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exon_skip_427391_LIHC_TCGA-G3-A3CJ-01.png
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exon_skip_433436_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_433655_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_434375_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_43567_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_436327_LIHC_TCGA-G3-A3CJ-01.png
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exon_skip_445559_LIHC_TCGA-G3-A3CJ-01.png
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exon_skip_452739_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_4535_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_457245_LIHC_TCGA-G3-A3CJ-01.png
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exon_skip_464169_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_464999_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_466343_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_467017_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_468347_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_470485_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_478117_LIHC_TCGA-G3-A3CJ-01.png
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exon_skip_483618_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_483622_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_492152_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_499409_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_502144_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_504288_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_504556_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_506095_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_506097_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_507316_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_507513_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_55516_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_57597_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_57603_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_5818_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_5861_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_58894_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_59476_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_60476_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_67293_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_67402_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_69019_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_71100_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_73796_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_84528_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_86050_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_86051_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_86135_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_87721_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_93891_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_94866_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_96453_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_98550_LIHC_TCGA-G3-A3CJ-01.png
	Sample: TCGA-G3-A3CJ-01
	Cancer type: LIHC
	ESID: exon_skip_483622
	Skipped exon start: 57125321
	Skipped exon end: 57125468
	Mutation start: 57125436
	Mutation end: 57125436
	Mutation type: Frame_Shift_Del
	Reference seq: A
	Mutation seq: -
	AAchange: p.Q3fs
	Sample: TCGA-G3-A3CJ-01
	Cancer type: LIHC
	ESID: exon_skip_483618
	Skipped exon start: 57125321
	Skipped exon end: 57125448
	Mutation start: 57125436
	Mutation end: 57125436
	Mutation type: Frame_Shift_Del
	Reference seq: A
	Mutation seq: -
	AAchange: p.Q3fs
exon_skip_101516_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_106378_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_106524_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_109529_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_109778_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_11286_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_11289_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_11349_LIHC_TCGA-G3-A3CJ-01.png
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exon_skip_113898_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_11611_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_11615_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_11638_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_11641_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_11926_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_11933_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_11937_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_11939_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_124065_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_124066_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_124693_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_126824_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_126833_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_126836_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_1268_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_1270_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_127101_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_1274_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_128729_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_129795_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_129799_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_131401_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_131474_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_135545_LIHC_TCGA-G3-A3CJ-01.png
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exon_skip_13626_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_138373_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_138676_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_141657_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_143515_LIHC_TCGA-G3-A3CJ-01.png
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exon_skip_14564_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_149490_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_153354_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_1873_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_1874_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_24442_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_284510_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_289275_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_289905_LIHC_TCGA-G3-A3CJ-01.png
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exon_skip_293221_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_293223_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_300058_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_300676_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_302253_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_302693_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_305815_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_30789_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_30792_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_309404_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_309486_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_309505_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_309539_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_311823_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_313290_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_315285_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_315286_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_316122_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_325693_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_327441_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_327550_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_329666_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_329933_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_331517_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_354387_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_354396_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_356468_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_365019_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_365023_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_371589_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_375393_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_380574_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_382000_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_382738_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_385031_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_387684_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_421130_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_421131_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_421134_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_426528_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_426530_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_427391_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_430528_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_433436_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_433655_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_434375_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_43567_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_436327_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_436618_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_444593_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_445559_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_447600_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_452739_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_4535_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_457245_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_45824_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_464169_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_464999_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_466343_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_467017_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_468347_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_470485_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_478117_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_483502_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_483618_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_483622_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_492152_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_499409_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_502144_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_504288_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_504556_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_506095_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_506097_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_507316_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_507513_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_55516_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_57597_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_57603_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_5818_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_5861_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_58894_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_59476_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_60476_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_67293_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_67402_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_69019_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_71100_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_73796_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_84528_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_86050_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_86051_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_86135_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_87721_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_93891_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_94866_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_96453_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_98550_LIHC_TCGA-G3-A3CJ-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
IALM_LUNG	57127157	57127226	57127195	57127195	Missense_Mutation	T	A	p.L8Q
HCC1195_LUNG	57128992	57129065	57128998	57128998	Missense_Mutation	G	T	p.D21Y
HCC1195_LUNG	57128992	57129090	57128998	57128998	Missense_Mutation	G	T	p.D21Y
HCC1195_LUNG	57128948	57129090	57128998	57128998	Missense_Mutation	G	T	p.D21Y
HCC1195_LUNG	57128948	57129065	57128998	57128998	Missense_Mutation	G	T	p.D21Y
HCT116_LARGE_INTESTINE	57128992	57129065	57129062	57129062	Missense_Mutation	T	C	p.L42S
HCT116_LARGE_INTESTINE	57128992	57129090	57129062	57129062	Missense_Mutation	T	C	p.L42S
HCT116_LARGE_INTESTINE	57128948	57129090	57129062	57129062	Missense_Mutation	T	C	p.L42S
HCT116_LARGE_INTESTINE	57128948	57129065	57129062	57129062	Missense_Mutation	T	C	p.L42S

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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for CHCHD7

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 CHCHD7

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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for CHCHD7

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RelatedDrugs for CHCHD7

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 CHCHD7

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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Gene summary for CHCHD7

Exon skipping events across known transcript of Ensembl for CHCHD7 from UCSC genome browser

Gene isoform structures and expression levels for CHCHD7

Exon skipping events with PSIs in TCGA for CHCHD7

Exon skipping events with PSIs in GTEx for CHCHD7

Open reading frame (ORF) annotation in the exon skipping event for CHCHD7

Infer the effects of exon skipping event on protein functional features for CHCHD7

SNVs in the skipped exons for CHCHD7

Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for CHCHD7

Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for CHCHD7

Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for CHCHD7

RelatedDrugs for CHCHD7

RelatedDiseases for CHCHD7