ExonSkipDB: functional annotation of exon skipping event in human

Gene summary for ZNF608

Gene summary

Gene information	Gene symbol	ZNF608
	Gene ID	57507
	Gene name	zinc finger protein 608
	Synonyms	NY-REN-36
	Cytomap	5q23.2
	Type of gene	protein-coding
	Description	zinc finger protein 608renal carcinoma antigen NY-REN-36
	Modification date	20180519
	UniProtAcc	Q9ULD9
	Context	PubMed: ZNF608 [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 ZNF608 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 ZNF608

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 ZNF608

Information of exkip skipping event in TCGA.

Exon skip ID	chr	Exons involved in exon skipping	Skipped exon	ENSG	ENSTs
exon_skip_443669	5	123972970:123973599:123974474:123974516:123974825:123974872	123974474:123974516	ENSG00000168916.11	ENST00000505686.1,ENST00000513985.1
exon_skip_443672	5	123974825:123974907:123976944:123977098:123979203:123979358	123976944:123977098	ENSG00000168916.11	ENST00000504926.1,ENST00000306315.5,ENST00000513985.1
exon_skip_443674	5	123979203:123979376:123979936:123980354:123985302:123985390	123979936:123980354	ENSG00000168916.11	ENST00000505686.1
exon_skip_443675	5	123979936:123980354:123982371:123984826:123985302:123985390	123982371:123984826	ENSG00000168916.11	ENST00000504926.1,ENST00000306315.5
exon_skip_443678	5	123985302:123985390:124036706:124036962:124079776:124080060	124036706:124036962	ENSG00000168916.11	ENST00000503896.2,ENST00000505686.1,ENST00000513986.1,ENST00000306315.5,ENST00000509799.1
exon_skip_443682	5	124036706:124036962:124079776:124080865:124081887:124082320	124079776:124080865	ENSG00000168916.11	ENST00000513986.1
exon_skip_443683	5	124036706:124036962:124079776:124080865:124084225:124084500	124079776:124080865	ENSG00000168916.11	ENST00000509799.1

PSI values of skipped exons in TCGA.

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Exon skipping events with PSIs in GTEx for ZNF608

Information of exkip skipping event in GTEx

Exon skip ID	chr	Exons involved in exon skipping	Skipped exon	ENSG	ENSTs
exon_skip_443669	5	123972970:123973599:123974474:123974516:123974825:123974872	123974474:123974516	ENSG00000168916.11	ENST00000513985.1,ENST00000505686.1
exon_skip_443672	5	123974825:123974907:123976944:123977098:123979203:123979358	123976944:123977098	ENSG00000168916.11	ENST00000513985.1,ENST00000504926.1,ENST00000306315.5
exon_skip_443674	5	123979203:123979376:123979936:123980354:123985302:123985390	123979936:123980354	ENSG00000168916.11	ENST00000505686.1
exon_skip_443675	5	123979936:123980354:123982371:123984826:123985302:123985390	123982371:123984826	ENSG00000168916.11	ENST00000504926.1,ENST00000306315.5
exon_skip_443678	5	123985302:123985390:124036706:124036962:124079776:124080060	124036706:124036962	ENSG00000168916.11	ENST00000306315.5,ENST00000505686.1,ENST00000503896.2,ENST00000509799.1,ENST00000513986.1
exon_skip_443682	5	124036706:124036962:124079776:124080865:124081887:124082320	124079776:124080865	ENSG00000168916.11	ENST00000513986.1
exon_skip_443683	5	124036706:124036962:124079776:124080865:124084225:124084500	124079776:124080865	ENSG00000168916.11	ENST00000509799.1

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 ZNF608

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
ENST00000306315	123976944	123977098	Frame-shift
ENST00000306315	123982371	123984826	Frame-shift
ENST00000306315	124036706	124036962	Frame-shift

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
ENST00000306315	123976944	123977098	Frame-shift
ENST00000306315	123982371	123984826	Frame-shift
ENST00000306315	124036706	124036962	Frame-shift

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Infer the effects of exon skipping event on protein functional features for ZNF608

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

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

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

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

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SNVs in the skipped exons for ZNF608

- 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.

ZNF608_KIRC_exon_skip_443675_psi_boxplot.png
boxplot

ZNF608_LIHC_exon_skip_443675_psi_boxplot.png
boxplot

ZNF608_STAD_exon_skip_443675_psi_boxplot.png
boxplot

ZNF608_UCS_exon_skip_443675_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_443672	123976945	123977098	123976949	123976949	Frame_Shift_Del	A	-	p.F1482fs
LIHC	TCGA-DD-A1EG-01	exon_skip_443674	123979937	123980354	123980122	123980122	Frame_Shift_Del	T	-	p.N1313fs
STAD	TCGA-BR-4370-01	exon_skip_443674	123979937	123980354	123980122	123980122	Frame_Shift_Del	T	-	p.N1313fs
LIHC	TCGA-DD-A3A0-01	exon_skip_443674	123979937	123980354	123980259	123980259	Frame_Shift_Del	T	-	p.K1267fs
LGG	TCGA-E1-A7YL-01	exon_skip_443674	123979937	123980354	123980270	123980273	Frame_Shift_Del	TCTC	-	p.EK1263fs
LIHC	TCGA-DD-A3A0-01	exon_skip_443674	123979937	123980354	123980293	123980293	Frame_Shift_Del	T	-	p.K1256fs
LIHC	TCGA-DD-A3A0-01	exon_skip_443675	123982372	123984826	123982583	123982583	Frame_Shift_Del	T	-	p.N1165fs
UCEC	TCGA-A5-A0GB-01	exon_skip_443675	123982372	123984826	123982583	123982583	Frame_Shift_Del	T	-	p.N1165fs
LIHC	TCGA-G3-A3CJ-01	exon_skip_443675	123982372	123984826	123982738	123982738	Frame_Shift_Del	C	-	p.R1113fs
LIHC	TCGA-DD-A1EG-01	exon_skip_443675	123982372	123984826	123983058	123983058	Frame_Shift_Del	T	-	p.S1007fs
HNSC	TCGA-CR-7402-01	exon_skip_443675	123982372	123984826	123983092	123983092	Frame_Shift_Del	G	-	p.P995fs
LIHC	TCGA-DD-A1EG-01	exon_skip_443675	123982372	123984826	123983368	123983368	Frame_Shift_Del	C	-	p.R903fs
LIHC	TCGA-DD-A1EG-01	exon_skip_443675	123982372	123984826	123983845	123983845	Frame_Shift_Del	G	-	p.P744fs
LIHC	TCGA-DD-A39Y-01	exon_skip_443675	123982372	123984826	123983920	123983920	Frame_Shift_Del	T	-	p.K719fs
STAD	TCGA-BR-A4QL-01	exon_skip_443675	123982372	123984826	123983920	123983920	Frame_Shift_Del	T	-	p.A720fs
STAD	TCGA-BR-A4QL-01	exon_skip_443675	123982372	123984826	123983920	123983920	Frame_Shift_Del	T	-	p.K719fs
HNSC	TCGA-CR-6484-01	exon_skip_443675	123982372	123984826	123984449	123984449	Frame_Shift_Del	A	-	p.L543fs
LIHC	TCGA-DD-A1EG-01	exon_skip_443675	123982372	123984826	123984684	123984684	Frame_Shift_Del	C	-	p.A465fs
LIHC	TCGA-G3-A3CJ-01	exon_skip_443675	123982372	123984826	123984684	123984684	Frame_Shift_Del	C	-	p.A465fs
STAD	TCGA-BR-4256-01	exon_skip_443675	123982372	123984826	123984684	123984684	Frame_Shift_Del	C	-	p.A465fs
STAD	TCGA-BR-6852-01	exon_skip_443675	123982372	123984826	123984684	123984684	Frame_Shift_Del	C	-	p.A465fs
STAD	TCGA-BR-8372-01	exon_skip_443675	123982372	123984826	123984684	123984684	Frame_Shift_Del	C	-	p.A465fs
STAD	TCGA-HU-8602-01	exon_skip_443675	123982372	123984826	123984684	123984684	Frame_Shift_Del	C	-	p.A465fs
LIHC	TCGA-DD-A1EG-01	exon_skip_443678	124036707	124036962	124036953	124036953	Frame_Shift_Del	G	-	p.L306fs
LIHC	TCGA-DD-A3A0-01	exon_skip_443682 exon_skip_443683	124079777	124080865	124079932	124079932	Frame_Shift_Del	G	-	p.H251fs
LIHC	TCGA-DD-A39Y-01	exon_skip_443682 exon_skip_443683	124079777	124080865	124080053	124080053	Frame_Shift_Del	G	-	p.S210fs
LIHC	TCGA-DD-A1EG-01	exon_skip_443682 exon_skip_443683	124079777	124080865	124080352	124080352	Frame_Shift_Del	T	-	p.T111fs
LIHC	TCGA-DD-A1EG-01	exon_skip_443682 exon_skip_443683	124079777	124080865	124080428	124080428	Frame_Shift_Del	A	-	p.F85fs
UCS	TCGA-ND-A4WC-01	exon_skip_443675	123982372	123984826	123984088	123984089	Frame_Shift_Ins	-	T	p.K663fs
KIRC	TCGA-A3-3346-01	exon_skip_443675	123982372	123984826	123984683	123984684	Frame_Shift_Ins	-	C	p.Q465fs
KIRC	TCGA-A3-3382-01	exon_skip_443675	123982372	123984826	123984683	123984684	Frame_Shift_Ins	-	C	p.Q465fs
LIHC	TCGA-BC-A112-01	exon_skip_443675	123982372	123984826	123984683	123984684	Frame_Shift_Ins	-	C	p.Q465fs
LUAD	TCGA-44-2665-01	exon_skip_443675	123982372	123984826	123984683	123984684	Frame_Shift_Ins	-	C	p.Q465fs
STAD	TCGA-CG-4305-01	exon_skip_443675	123982372	123984826	123984684	123984685	Frame_Shift_Ins	-	C	p.A465fs
UCEC	TCGA-AX-A0IS-01	exon_skip_443678	124036707	124036962	124036770	124036771	Frame_Shift_Ins	-	A	p.L366fs
LIHC	TCGA-BC-A112-01	exon_skip_443682 exon_skip_443683	124079777	124080865	124079921	124079922	Frame_Shift_Ins	-	C	p.D254fs
STAD	TCGA-FP-A4BE-01	exon_skip_443682 exon_skip_443683	124079777	124080865	124079983	124079984	Frame_Shift_Ins	-	C	p.H234fs
STAD	TCGA-FP-A4BE-01	exon_skip_443682 exon_skip_443683	124079777	124080865	124079984	124079985	Frame_Shift_Ins	-	C	p.G233fs
LUAD	TCGA-44-7667-01	exon_skip_443674	123979937	123980354	123980334	123980334	Nonsense_Mutation	C	T	p.W1242*
UCEC	TCGA-D1-A103-01	exon_skip_443674	123979937	123980354	123980344	123980344	Nonsense_Mutation	G	T	p.S1239*
BLCA	TCGA-YF-AA3L-01	exon_skip_443675	123982372	123984826	123982616	123982616	Nonsense_Mutation	G	C	p.S1154*
SKCM	TCGA-D3-A3C8-06	exon_skip_443675	123982372	123984826	123983748	123983748	Nonsense_Mutation	G	A	p.Q777*
STAD	TCGA-BR-4292-01	exon_skip_443675	123982372	123984826	123984642	123984642	Nonsense_Mutation	G	A	p.R479*
STAD	TCGA-BR-4292-01	exon_skip_443675	123982372	123984826	123984642	123984642	Nonsense_Mutation	G	A	p.R479X
BLCA	TCGA-DK-A1AC-01	exon_skip_443682 exon_skip_443683	124079777	124080865	124080028	124080028	Nonsense_Mutation	G	A	p.Q219*
UCEC	TCGA-AP-A0LM-01	exon_skip_443682 exon_skip_443683	124079777	124080865	124080385	124080385	Nonsense_Mutation	C	A	p.E100*

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

Depth of coverage in three exons	Mutation description
	Sample: TCGA-BR-4256-01
	Cancer type: STAD
	ESID: exon_skip_443675
	Skipped exon start: 123982372
	Skipped exon end: 123984826
	Mutation start: 123984684
	Mutation end: 123984684
	Mutation type: Frame_Shift_Del
	Reference seq: C
	Mutation seq: -
	AAchange: p.A465fs
exon_skip_330351_STAD_TCGA-BR-4256-01.png
exon_skip_332669_STAD_TCGA-BR-4256-01.png
exon_skip_347979_STAD_TCGA-BR-4256-01.png
exon_skip_347981_STAD_TCGA-BR-4256-01.png
exon_skip_443675_STAD_TCGA-BR-4256-01.png
exon_skip_54123_STAD_TCGA-BR-4256-01.png
exon_skip_77605_STAD_TCGA-BR-4256-01.png
	Sample: TCGA-HU-8602-01
	Cancer type: STAD
	ESID: exon_skip_443675
	Skipped exon start: 123982372
	Skipped exon end: 123984826
	Mutation start: 123984684
	Mutation end: 123984684
	Mutation type: Frame_Shift_Del
	Reference seq: C
	Mutation seq: -
	AAchange: p.A465fs
exon_skip_110606_STAD_TCGA-HU-8602-01.png
exon_skip_12723_STAD_TCGA-HU-8602-01.png
exon_skip_12741_STAD_TCGA-HU-8602-01.png
exon_skip_129202_STAD_TCGA-HU-8602-01.png
exon_skip_142361_STAD_TCGA-HU-8602-01.png
exon_skip_17013_STAD_TCGA-HU-8602-01.png
exon_skip_28391_STAD_TCGA-HU-8602-01.png
exon_skip_328529_STAD_TCGA-HU-8602-01.png
exon_skip_35193_STAD_TCGA-HU-8602-01.png
exon_skip_364609_STAD_TCGA-HU-8602-01.png
exon_skip_3733_STAD_TCGA-HU-8602-01.png
exon_skip_3734_STAD_TCGA-HU-8602-01.png
exon_skip_424540_STAD_TCGA-HU-8602-01.png
exon_skip_443675_STAD_TCGA-HU-8602-01.png
exon_skip_466134_STAD_TCGA-HU-8602-01.png
exon_skip_475115_STAD_TCGA-HU-8602-01.png
exon_skip_482067_STAD_TCGA-HU-8602-01.png
exon_skip_489785_STAD_TCGA-HU-8602-01.png
exon_skip_489794_STAD_TCGA-HU-8602-01.png
exon_skip_493826_STAD_TCGA-HU-8602-01.png
exon_skip_493827_STAD_TCGA-HU-8602-01.png
exon_skip_51385_STAD_TCGA-HU-8602-01.png
exon_skip_81726_STAD_TCGA-HU-8602-01.png
exon_skip_84502_STAD_TCGA-HU-8602-01.png
exon_skip_96034_STAD_TCGA-HU-8602-01.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
NCIH630_LARGE_INTESTINE	123976945	123977098	123977088	123977088	Frame_Shift_Del	T	-	p.K1436fs
KMS11_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	123982372	123984826	123982406	123982406	Frame_Shift_Del	T	-	p.Q1224fs
BICR18_UPPER_AERODIGESTIVE_TRACT	123982372	123984826	123982689	123982690	Frame_Shift_Del	TC	-	p.K1130fs
SNU1040_LARGE_INTESTINE	123982372	123984826	123983146	123983146	Frame_Shift_Del	T	-	p.K977fs
SNU324_PANCREAS	123982372	123984826	123983516	123983516	Frame_Shift_Del	A	-	p.L854fs
NCIH748_LUNG	123982372	123984826	123984021	123984028	Frame_Shift_Del	AACTGTCT	-	p.DSC684fs
2313287_STOMACH	123982372	123984826	123984684	123984684	Frame_Shift_Del	C	-	p.A465fs
HEC151_ENDOMETRIUM	124079777	124080865	124079984	124079984	Frame_Shift_Del	C	-	p.G233fs
JEKO1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	124079777	124080865	124080264	124080291	Frame_Shift_Del	TGGACTTCCTGCCTCTTGCCAGTGCTGC	-	p.SSTGKRQEVQ131fs
BICR18_UPPER_AERODIGESTIVE_TRACT	124079777	124080865	124080504	124080505	Frame_Shift_Del	CT	-	p.S60fs
BICR18_UPPER_AERODIGESTIVE_TRACT	124079777	124080865	124080507	124080510	Frame_Shift_Del	CTAC	-	p.SS58fs
BICR18_UPPER_AERODIGESTIVE_TRACT	123982372	123984826	123982684	123982685	Frame_Shift_Ins	-	GC	p.S1131fs
CHP126_AUTONOMIC_GANGLIA	123982372	123984826	123983919	123983920	Frame_Shift_Ins	-	T	p.A720fs
HCC827GR5_LUNG	123982372	123984826	123983919	123983920	Frame_Shift_Ins	-	T	p.A720fs
OV90_OVARY	123982372	123984826	123983919	123983920	Frame_Shift_Ins	-	T	p.A720fs
SW684_SOFT_TISSUE	124079777	124080865	124079983	124079984	Frame_Shift_Ins	-	C	p.H234fs
SNU349_KIDNEY	124079777	124080865	124080178	124080180	In_Frame_Del	TAT	-	p.N168del
COLO792_SKIN	123976945	123977098	123976954	123976954	Missense_Mutation	G	A	p.P1481S
HCT15_LARGE_INTESTINE	123976945	123977098	123976999	123976999	Missense_Mutation	T	C	p.T1466A
HRT18_LARGE_INTESTINE	123976945	123977098	123976999	123976999	Missense_Mutation	T	C	p.T1466A
CP66MEL_SKIN	123976945	123977098	123977023	123977023	Missense_Mutation	G	A	p.R1458W
NCIBL128_MATCHED_NORMAL_TISSUE	123976945	123977098	123977044	123977044	Missense_Mutation	G	A	p.R1451C
NCIH128_LUNG	123976945	123977098	123977044	123977044	Missense_Mutation	G	A	p.R1451C
HEC6_ENDOMETRIUM	123976945	123977098	123977074	123977074	Missense_Mutation	G	A	p.R1441W
ES6_BONE	123976945	123977098	123977074	123977074	Missense_Mutation	G	A	p.R1441W
HCC1187_BREAST	123979937	123980354	123980083	123980083	Missense_Mutation	C	T	p.R1326Q
HCC1428_BREAST	123979937	123980354	123980083	123980083	Missense_Mutation	C	T	p.R1326Q
HCC1187_MATCHED_NORMAL_TISSUE	123979937	123980354	123980083	123980083	Missense_Mutation	C	T	p.R1326Q
CAKI2_KIDNEY	123979937	123980354	123980084	123980084	Missense_Mutation	G	A	p.R1326W
GI1_CENTRAL_NERVOUS_SYSTEM	123979937	123980354	123980219	123980219	Missense_Mutation	C	A	p.V1281L
G401_SOFT_TISSUE	123979937	123980354	123980327	123980327	Missense_Mutation	A	G	p.Y1245H
NCIH358_LUNG	123979937	123980354	123980352	123980352	Missense_Mutation	G	T	p.D1236E
CW2_LARGE_INTESTINE	123982372	123984826	123982415	123982415	Missense_Mutation	G	T	p.S1221Y
BICR18_UPPER_AERODIGESTIVE_TRACT	123982372	123984826	123982514	123982514	Missense_Mutation	T	C	p.N1188S
DAUDI_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	123982372	123984826	123982514	123982514	Missense_Mutation	T	C	p.N1188S
OCIAML5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	123982372	123984826	123982514	123982514	Missense_Mutation	T	C	p.N1188S
LI7_LIVER	123982372	123984826	123982515	123982515	Missense_Mutation	T	A	p.N1188Y
PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	123982372	123984826	123982586	123982586	Missense_Mutation	T	C	p.K1164R
MOLM13_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	123982372	123984826	123982676	123982676	Missense_Mutation	G	A	p.P1134L
DAUDI_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	123982372	123984826	123982712	123982712	Missense_Mutation	G	C	p.T1122S
NAMALWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	123982372	123984826	123982793	123982793	Missense_Mutation	A	C	p.M1095R
NCIH650_LUNG	123982372	123984826	123982871	123982871	Missense_Mutation	T	C	p.Q1069R
HEC108_ENDOMETRIUM	123982372	123984826	123982929	123982929	Missense_Mutation	T	C	p.K1050E
HEC251_ENDOMETRIUM	123982372	123984826	123982931	123982931	Missense_Mutation	G	T	p.S1049Y
KMS21BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	123982372	123984826	123982938	123982938	Missense_Mutation	A	T	p.L1047I
LS411N_LARGE_INTESTINE	123982372	123984826	123982964	123982964	Missense_Mutation	G	A	p.A1038V
MIAPACA2_PANCREAS	123982372	123984826	123982964	123982964	Missense_Mutation	G	T	p.A1038D
RPMI8866_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	123982372	123984826	123983030	123983030	Missense_Mutation	G	A	p.A1016V
K562_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	123982372	123984826	123983033	123983033	Missense_Mutation	C	G	p.G1015A
NCIH630_LARGE_INTESTINE	123982372	123984826	123983050	123983050	Missense_Mutation	C	T	p.M1009I
KARPAS45_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	123982372	123984826	123983130	123983130	Missense_Mutation	T	C	p.T983A
MOLP2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	123982372	123984826	123983166	123983166	Missense_Mutation	T	A	p.S971C
KMM1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	123982372	123984826	123983184	123983184	Missense_Mutation	G	A	p.P965S
ISTMES2_PLEURA	123982372	123984826	123983186	123983186	Missense_Mutation	G	A	p.S964F
HSC39_STOMACH	123982372	123984826	123983235	123983235	Missense_Mutation	C	T	p.D948N
JHH7_LIVER	123982372	123984826	123983241	123983241	Missense_Mutation	C	A	p.A946S
KIJK_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	123982372	123984826	123983422	123983422	Missense_Mutation	C	A	p.K885N
HCC2108_LUNG	123982372	123984826	123983438	123983438	Missense_Mutation	T	C	p.K880R
MORCPR_LUNG	123982372	123984826	123983438	123983438	Missense_Mutation	T	C	p.K880R
EJM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	123982372	123984826	123983453	123983453	Missense_Mutation	C	T	p.R875H
SQ1_LUNG	123982372	123984826	123983485	123983486	Missense_Mutation	CA	AG	p.L864P
SQ1_LUNG	123982372	123984826	123983486	123983486	Missense_Mutation	A	G	p.L864P
HCC1438_LUNG	123982372	123984826	123983546	123983546	Missense_Mutation	C	A	p.G844V
LN340_CENTRAL_NERVOUS_SYSTEM	123982372	123984826	123983577	123983577	Missense_Mutation	C	T	p.A834T
HCC2998_LARGE_INTESTINE	123982372	123984826	123983582	123983582	Missense_Mutation	A	G	p.M832T
HS600T_FIBROBLAST	123982372	123984826	123983597	123983597	Missense_Mutation	G	T	p.T827K
SNGM_ENDOMETRIUM	123982372	123984826	123983597	123983597	Missense_Mutation	G	A	p.T827M
DAUDI_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	123982372	123984826	123983645	123983645	Missense_Mutation	T	C	p.K811R
BICR18_UPPER_AERODIGESTIVE_TRACT	123982372	123984826	123983645	123983645	Missense_Mutation	T	C	p.K811R
TTC442_SOFT_TISSUE	123982372	123984826	123983647	123983647	Missense_Mutation	G	T	p.D810E
KYSE180_OESOPHAGUS	123982372	123984826	123983760	123983760	Missense_Mutation	T	C	p.T773A
2313287_STOMACH	123982372	123984826	123984032	123984032	Missense_Mutation	G	A	p.A682V
SNU1040_LARGE_INTESTINE	123982372	123984826	123984039	123984039	Missense_Mutation	T	C	p.T680A
JHUEM7_ENDOMETRIUM	123982372	123984826	123984122	123984122	Missense_Mutation	A	G	p.I652T
HEC59_ENDOMETRIUM	123982372	123984826	123984383	123984383	Missense_Mutation	T	C	p.K565R
HT1197_URINARY_TRACT	123982372	123984826	123984396	123984396	Missense_Mutation	T	A	p.N561Y
NB13_AUTONOMIC_GANGLIA	123982372	123984826	123984417	123984417	Missense_Mutation	C	T	p.D554N
MM386_SKIN	123982372	123984826	123984458	123984458	Missense_Mutation	G	C	p.T540S
PSN1_PANCREAS	123982372	123984826	123984460	123984460	Missense_Mutation	C	A	p.E539D
LB2241EBV_MATCHED_NORMAL_TISSUE	123982372	123984826	123984555	123984555	Missense_Mutation	G	T	p.L508M
JHOM2B_OVARY	123982372	123984826	123984561	123984561	Missense_Mutation	T	C	p.M506V
SCABER_URINARY_TRACT	123982372	123984826	123984603	123984603	Missense_Mutation	C	A	p.A492S
MFE319_ENDOMETRIUM	123982372	123984826	123984647	123984647	Missense_Mutation	C	T	p.S477N
KCL22_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	123982372	123984826	123984666	123984666	Missense_Mutation	G	A	p.R471W
SW48_LARGE_INTESTINE	123982372	123984826	123984686	123984686	Missense_Mutation	C	A	p.G464V
MKN7_STOMACH	123982372	123984826	123984689	123984689	Missense_Mutation	C	A	p.G463V
SW48_LARGE_INTESTINE	123982372	123984826	123984725	123984725	Missense_Mutation	A	C	p.F451C
CHSA0108_BONE	123982372	123984826	123984725	123984725	Missense_Mutation	A	T	p.F451Y
OACM51_OESOPHAGUS	124036707	124036962	124036811	124036811	Missense_Mutation	T	C	p.N353S
SISO_CERVIX	124036707	124036962	124036814	124036814	Missense_Mutation	A	G	p.V352A
GRST_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	124036707	124036962	124036814	124036814	Missense_Mutation	A	G	p.V352A
F36P_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	124036707	124036962	124036833	124036833	Missense_Mutation	G	A	p.R346W
SNU81_LARGE_INTESTINE	124079777	124080865	124079793	124079793	Missense_Mutation	T	G	p.K297T
SUPT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	124079777	124080865	124079886	124079886	Missense_Mutation	A	G	p.V266A
MM127_SKIN	124079777	124080865	124079890	124079890	Missense_Mutation	C	T	p.E265K
CAL12T_LUNG	124079777	124080865	124079902	124079902	Missense_Mutation	C	T	p.A261T
RKO_LARGE_INTESTINE	124079777	124080865	124079930	124079930	Missense_Mutation	G	C	p.H251Q
HT115_LARGE_INTESTINE	124079777	124080865	124080057	124080057	Missense_Mutation	T	C	p.K209R
SNU81_LARGE_INTESTINE	124079777	124080865	124080123	124080123	Missense_Mutation	C	T	p.S187N
ISHIKAWAHERAKLIO02ER_ENDOMETRIUM	124079777	124080865	124080129	124080129	Missense_Mutation	C	A	p.G185V
DAUDI_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	124079777	124080865	124080196	124080196	Missense_Mutation	C	T	p.G163S
DAUDI_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	124079777	124080865	124080208	124080208	Missense_Mutation	T	C	p.S159G
DND41_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	124079777	124080865	124080208	124080208	Missense_Mutation	T	C	p.S159G
BICR18_UPPER_AERODIGESTIVE_TRACT	124079777	124080865	124080208	124080208	Missense_Mutation	T	C	p.S159G
RCK8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	124079777	124080865	124080210	124080210	Missense_Mutation	C	T	p.S158N
A704_KIDNEY	124079777	124080865	124080228	124080228	Missense_Mutation	G	A	p.A152V
SW1116_LARGE_INTESTINE	124079777	124080865	124080250	124080250	Missense_Mutation	C	G	p.E145Q
MZ7MEL_SKIN	124079777	124080865	124080252	124080252	Missense_Mutation	C	T	p.G144E
SNU81_LARGE_INTESTINE	124079777	124080865	124080288	124080288	Missense_Mutation	C	T	p.S132N
SNU1076_UPPER_AERODIGESTIVE_TRACT	124079777	124080865	124080309	124080309	Missense_Mutation	T	A	p.Y125F
DAUDI_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	124079777	124080865	124080357	124080358	Missense_Mutation	CT	GC	p.S109A
BICR18_UPPER_AERODIGESTIVE_TRACT	124079777	124080865	124080357	124080358	Missense_Mutation	CT	GC	p.S109A
DMS53_LUNG	124079777	124080865	124080373	124080373	Missense_Mutation	A	C	p.S104A
DAUDI_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	124079777	124080865	124080415	124080415	Missense_Mutation	C	G	p.A90P
TOV21G_OVARY	124079777	124080865	124080634	124080634	Missense_Mutation	C	T	p.V17I
DAUDI_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	124079777	124080865	124080670	124080670	Missense_Mutation	T	C	p.I5V
JHUEM7_ENDOMETRIUM	123982372	123984826	123983628	123983628	Nonsense_Mutation	G	A	p.R817*
NCIH1930_LUNG	123982372	123984826	123983778	123983778	Nonsense_Mutation	C	A	p.G767*
HCC2998_LARGE_INTESTINE	124036707	124036962	124036761	124036761	Nonsense_Mutation	C	A	p.E370*
SCMCRM2_SOFT_TISSUE	124079777	124080865	124079803	124079803	Nonsense_Mutation	G	A	p.R294*
HKA1_SKIN	123976945	123977098	123976945	123976945	Splice_Site	C	T	p.G1484S
MUGCHOR1_BONE	123982372	123984826	123982372	123982372	Splice_Site	T	C	p.Q1235Q
FTC238_THYROID	124079777	124080865	124080681	124080681	Start_Codon_SNP	A	G	p.M1T

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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for ZNF608

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_443675	5	123979936:123980354:123982371:123984826:123985302:123985390	123982371:123984826	ENST00000504926.1,ENST00000306315.5	LGG	rs6862252	chr5:123983915	G/T	3.30e-03

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Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for ZNF608

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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for ZNF608

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RelatedDrugs for ZNF608

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 ZNF608

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 ZNF608

Exon skipping events across known transcript of Ensembl for ZNF608 from UCSC genome browser

Gene isoform structures and expression levels for ZNF608

Exon skipping events with PSIs in TCGA for ZNF608

Exon skipping events with PSIs in GTEx for ZNF608

Open reading frame (ORF) annotation in the exon skipping event for ZNF608

Infer the effects of exon skipping event on protein functional features for ZNF608

SNVs in the skipped exons for ZNF608

Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for ZNF608

Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for ZNF608

Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for ZNF608

RelatedDrugs for ZNF608

RelatedDiseases for ZNF608