ExonSkipDB: functional annotation of exon skipping event in human

Gene summary for ABCD4

Gene summary

Gene information	Gene symbol	ABCD4
	Gene ID	5826
	Gene name	ATP binding cassette subfamily D member 4
	Synonyms	ABC41\|EST352188\|MAHCJ\|P70R\|P79R\|PMP69\|PXMP1L
	Cytomap	14q24.3
	Type of gene	protein-coding
	Description	ATP-binding cassette sub-family D member 469 kDa peroxisomal ABC-transporterATP-binding cassette, sub-family D (ALD), member 4PMP70-related proteinPXMP1-Lperoxisomal membrane protein 69
	Modification date	20180519
	UniProtAcc	O14678
	Context	PubMed: ABCD4 [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 ABCD4 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 ABCD4

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 ABCD4

Information of exkip skipping event in TCGA.

Exon skip ID	chr	Exons involved in exon skipping	Skipped exon	ENSG	ENSTs
exon_skip_114341	14	74754513:74754589:74754909:74754962:74755362:74755468	74754909:74754962	ENSG00000119688.16	ENST00000556517.1,ENST00000481348.1
exon_skip_114342	14	74754520:74754589:74754909:74754962:74755418:74755468	74754909:74754962	ENSG00000119688.16	ENST00000555904.1,ENST00000481935.1,ENST00000298816.7,ENST00000553486.1,ENST00000474270.1,ENST00000356924.4,ENST00000553745.1
exon_skip_114354	14	74754909:74754962:74755362:74755468:74756185:74756222	74755362:74755468	ENSG00000119688.16	ENST00000556517.1,ENST00000481348.1
exon_skip_114356	14	74754909:74754962:74755418:74755468:74756185:74756222	74755418:74755468	ENSG00000119688.16	ENST00000481935.1,ENST00000298816.7,ENST00000553486.1,ENST00000474270.1,ENST00000356924.4,ENST00000553745.1
exon_skip_114360	14	74755418:74755468:74756185:74756222:74756729:74756821	74756185:74756222	ENSG00000119688.16	ENST00000556517.1,ENST00000481935.1,ENST00000298816.7,ENST00000553486.1,ENST00000356924.4,ENST00000553745.1,ENST00000481348.1
exon_skip_114361	14	74755418:74755468:74756185:74756222:74756993:74757155	74756185:74756222	ENSG00000119688.16	ENST00000474270.1
exon_skip_114365	14	74756185:74756222:74756729:74756821:74756993:74757155	74756729:74756821	ENSG00000119688.16	ENST00000556517.1,ENST00000481935.1,ENST00000466822.1,ENST00000298816.7,ENST00000553486.1,ENST00000356924.4,ENST00000553745.1,ENST00000481348.1
exon_skip_114370	14	74759024:74759079:74759253:74759345:74759450:74759529	74759253:74759345	ENSG00000119688.16	ENST00000496015.1,ENST00000481935.1,ENST00000298816.7,ENST00000553486.1,ENST00000474270.1,ENST00000356924.4,ENST00000469672.1,ENST00000556119.1,ENST00000460308.2,ENST00000553745.1
exon_skip_114376	14	74759533:74759572:74759856:74759951:74761850:74761901	74759856:74759951	ENSG00000119688.16	ENST00000481935.1,ENST00000553486.1,ENST00000356924.4,ENST00000556119.1
exon_skip_114377	14	74759533:74759572:74759856:74759982:74761850:74761901	74759856:74759982	ENSG00000119688.16	ENST00000553998.1
exon_skip_114378	14	74759533:74759572:74759856:74760013:74761850:74761901	74759856:74760013	ENSG00000119688.16	ENST00000554453.1
exon_skip_114390	14	74759861:74759951:74761850:74761901:74762556:74762617	74761850:74761901	ENSG00000119688.16	ENST00000496015.1,ENST00000481935.1,ENST00000553486.1,ENST00000356924.4,ENST00000556119.1
exon_skip_114395	14	74761850:74761901:74762556:74762682:74763035:74763152	74762556:74762682	ENSG00000119688.16	ENST00000489678.1,ENST00000481935.1,ENST00000554453.1,ENST00000556971.1,ENST00000553486.1,ENST00000356924.4,ENST00000469672.1,ENST00000556119.1,ENST00000460308.2
exon_skip_114397	14	74761850:74761901:74763035:74763152:74766250:74766378	74763035:74763152	ENSG00000119688.16	ENST00000555617.1
exon_skip_114404	14	74763035:74763152:74764341:74764772:74766852:74766971	74764341:74764772	ENSG00000119688.16	ENST00000470637.1
exon_skip_114409	14	74763035:74763152:74764632:74764772:74766250:74766378	74764632:74764772	ENSG00000119688.16	ENST00000557588.1,ENST00000298816.7,ENST00000556971.1,ENST00000356924.4,ENST00000553745.1
exon_skip_114410	14	74763035:74763152:74764632:74764772:74766852:74766971	74764632:74764772	ENSG00000119688.16	ENST00000481935.1,ENST00000553486.1,ENST00000460308.2
exon_skip_114416	14	74763035:74763152:74766250:74766378:74769577:74769613	74766250:74766378	ENSG00000119688.16	ENST00000469672.1,ENST00000555617.1,ENST00000556119.1
exon_skip_114417	14	74763035:74763152:74766852:74766971:74769577:74769613	74766852:74766971	ENSG00000119688.16	ENST00000475240.1,ENST00000554453.1
exon_skip_114423	14	74764678:74764772:74766250:74766378:74766852:74766971	74766250:74766378	ENSG00000119688.16	ENST00000477803.1,ENST00000557588.1,ENST00000356924.4
exon_skip_114424	14	74764678:74764772:74766250:74766378:74769577:74769613	74766250:74766378	ENSG00000119688.16	ENST00000298816.7,ENST00000556971.1,ENST00000553745.1
exon_skip_114425	14	74764678:74764772:74766852:74766971:74769577:74769613	74766852:74766971	ENSG00000119688.16	ENST00000481935.1,ENST00000553486.1,ENST00000470637.1,ENST00000460308.2
exon_skip_114426	14	74766250:74766378:74766852:74766971:74769577:74769613	74766852:74766971	ENSG00000119688.16	ENST00000477803.1,ENST00000557588.1,ENST00000557554.1,ENST00000493752.1

PSI values of skipped exons in TCGA.

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Exon skipping events with PSIs in GTEx for ABCD4

Information of exkip skipping event in GTEx

Exon skip ID	chr	Exons involved in exon skipping	Skipped exon	ENSG	ENSTs
exon_skip_114341	14	74754513:74754589:74754909:74754962:74755362:74755468	74754909:74754962	ENSG00000119688.16	ENST00000481348.1,ENST00000556517.1
exon_skip_114342	14	74754520:74754589:74754909:74754962:74755418:74755468	74754909:74754962	ENSG00000119688.16	ENST00000356924.4,ENST00000481935.1,ENST00000555904.1,ENST00000553486.1,ENST00000553745.1,ENST00000298816.7,ENST00000474270.1
exon_skip_114354	14	74754909:74754962:74755362:74755468:74756185:74756222	74755362:74755468	ENSG00000119688.16	ENST00000481348.1,ENST00000556517.1
exon_skip_114356	14	74754909:74754962:74755418:74755468:74756185:74756222	74755418:74755468	ENSG00000119688.16	ENST00000356924.4,ENST00000481935.1,ENST00000553486.1,ENST00000553745.1,ENST00000298816.7,ENST00000474270.1
exon_skip_114360	14	74755418:74755468:74756185:74756222:74756729:74756821	74756185:74756222	ENSG00000119688.16	ENST00000356924.4,ENST00000481348.1,ENST00000481935.1,ENST00000553486.1,ENST00000556517.1,ENST00000553745.1,ENST00000298816.7
exon_skip_114361	14	74755418:74755468:74756185:74756222:74756993:74757155	74756185:74756222	ENSG00000119688.16	ENST00000474270.1
exon_skip_114365	14	74756185:74756222:74756729:74756821:74756993:74757155	74756729:74756821	ENSG00000119688.16	ENST00000356924.4,ENST00000481348.1,ENST00000481935.1,ENST00000553486.1,ENST00000556517.1,ENST00000553745.1,ENST00000298816.7,ENST00000466822.1
exon_skip_114369	14	74757049:74757202:74766250:74766378:74766852:74766971	74766250:74766378	ENSG00000119688.16	ENST00000557554.1
exon_skip_114370	14	74759024:74759079:74759253:74759345:74759450:74759529	74759253:74759345	ENSG00000119688.16	ENST00000356924.4,ENST00000481935.1,ENST00000553486.1,ENST00000553745.1,ENST00000298816.7,ENST00000474270.1,ENST00000496015.1,ENST00000469672.1,ENST00000556119.1,ENST00000460308.2
exon_skip_114376	14	74759533:74759572:74759856:74759951:74761850:74761901	74759856:74759951	ENSG00000119688.16	ENST00000356924.4,ENST00000481935.1,ENST00000553486.1,ENST00000556119.1
exon_skip_114377	14	74759533:74759572:74759856:74759982:74761850:74761901	74759856:74759982	ENSG00000119688.16	ENST00000553998.1
exon_skip_114378	14	74759533:74759572:74759856:74760013:74761850:74761901	74759856:74760013	ENSG00000119688.16	ENST00000554453.1
exon_skip_114390	14	74759861:74759951:74761850:74761901:74762556:74762617	74761850:74761901	ENSG00000119688.16	ENST00000356924.4,ENST00000481935.1,ENST00000553486.1,ENST00000496015.1,ENST00000556119.1
exon_skip_114395	14	74761850:74761901:74762556:74762682:74763035:74763152	74762556:74762682	ENSG00000119688.16	ENST00000356924.4,ENST00000481935.1,ENST00000553486.1,ENST00000469672.1,ENST00000556119.1,ENST00000460308.2,ENST00000554453.1,ENST00000556971.1,ENST00000489678.1
exon_skip_114397	14	74761850:74761901:74763035:74763152:74766250:74766378	74763035:74763152	ENSG00000119688.16	ENST00000555617.1
exon_skip_114404	14	74763035:74763152:74764341:74764772:74766852:74766971	74764341:74764772	ENSG00000119688.16	ENST00000470637.1
exon_skip_114409	14	74763035:74763152:74764632:74764772:74766250:74766378	74764632:74764772	ENSG00000119688.16	ENST00000356924.4,ENST00000553745.1,ENST00000298816.7,ENST00000557588.1,ENST00000556971.1
exon_skip_114410	14	74763035:74763152:74764632:74764772:74766852:74766971	74764632:74764772	ENSG00000119688.16	ENST00000481935.1,ENST00000553486.1,ENST00000460308.2
exon_skip_114416	14	74763035:74763152:74766250:74766378:74769577:74769613	74766250:74766378	ENSG00000119688.16	ENST00000469672.1,ENST00000556119.1,ENST00000555617.1
exon_skip_114417	14	74763035:74763152:74766852:74766971:74769577:74769613	74766852:74766971	ENSG00000119688.16	ENST00000554453.1,ENST00000475240.1
exon_skip_114423	14	74764678:74764772:74766250:74766378:74766852:74766971	74766250:74766378	ENSG00000119688.16	ENST00000356924.4,ENST00000557588.1,ENST00000477803.1
exon_skip_114424	14	74764678:74764772:74766250:74766378:74769577:74769613	74766250:74766378	ENSG00000119688.16	ENST00000553745.1,ENST00000298816.7,ENST00000556971.1
exon_skip_114425	14	74764678:74764772:74766852:74766971:74769577:74769613	74766852:74766971	ENSG00000119688.16	ENST00000481935.1,ENST00000553486.1,ENST00000460308.2,ENST00000470637.1
exon_skip_114426	14	74766250:74766378:74766852:74766971:74769577:74769613	74766852:74766971	ENSG00000119688.16	ENST00000557554.1,ENST00000557588.1,ENST00000477803.1,ENST00000493752.1

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 ABCD4

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
ENST00000356924	74754909	74754962	Frame-shift
ENST00000356924	74755418	74755468	Frame-shift
ENST00000356924	74756185	74756222	Frame-shift
ENST00000356924	74756729	74756821	Frame-shift
ENST00000356924	74759253	74759345	Frame-shift
ENST00000356924	74759856	74759951	Frame-shift
ENST00000356924	74764632	74764772	Frame-shift
ENST00000356924	74766250	74766378	Frame-shift
ENST00000356924	74761850	74761901	In-frame
ENST00000356924	74762556	74762682	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
ENST00000356924	74754909	74754962	Frame-shift
ENST00000356924	74755418	74755468	Frame-shift
ENST00000356924	74756185	74756222	Frame-shift
ENST00000356924	74756729	74756821	Frame-shift
ENST00000356924	74759253	74759345	Frame-shift
ENST00000356924	74759856	74759951	Frame-shift
ENST00000356924	74764632	74764772	Frame-shift
ENST00000356924	74766250	74766378	Frame-shift
ENST00000356924	74761850	74761901	In-frame
ENST00000356924	74762556	74762682	In-frame

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Infer the effects of exon skipping event on protein functional features for ABCD4

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
ENST00000356924	3020	606	74762556	74762682	687	812	181	222
ENST00000356924	3020	606	74761850	74761901	813	863	223	239

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
ENST00000356924	3020	606	74762556	74762682	687	812	181	222
ENST00000356924	3020	606	74761850	74761901	813	863	223	239

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
O14678	181	222	1	606	Chain	ID=PRO_0000093312;Note=ATP-binding cassette sub-family D member 4
O14678	181	222	39	332	Domain	Note=ABC transmembrane type-1;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00441
O14678	181	222	190	210	Transmembrane	Note=Helical;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00441
O14678	223	239	1	606	Chain	ID=PRO_0000093312;Note=ATP-binding cassette sub-family D member 4
O14678	223	239	39	332	Domain	Note=ABC transmembrane type-1;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00441

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
O14678	181	222	1	606	Chain	ID=PRO_0000093312;Note=ATP-binding cassette sub-family D member 4
O14678	181	222	39	332	Domain	Note=ABC transmembrane type-1;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00441
O14678	181	222	190	210	Transmembrane	Note=Helical;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00441
O14678	223	239	1	606	Chain	ID=PRO_0000093312;Note=ATP-binding cassette sub-family D member 4
O14678	223	239	39	332	Domain	Note=ABC transmembrane type-1;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00441

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SNVs in the skipped exons for ABCD4

- 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.

ABCD4_THYM_exon_skip_114377_psi_boxplot.png
boxplot

ABCD4_THYM_exon_skip_114378_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-A3A0-01	exon_skip_114425 exon_skip_114426 exon_skip_114417	74766853	74766971	74766918	74766918	Frame_Shift_Del	A	-	p.L31fs
THYM	TCGA-XM-A8RF-01	exon_skip_114376	74759857	74759951	74759934	74759935	Frame_Shift_Ins	-	GC	p.H246fs
THYM	TCGA-XM-A8RF-01	exon_skip_114377	74759857	74759982	74759934	74759935	Frame_Shift_Ins	-	GC	p.H246fs
THYM	TCGA-XM-A8RF-01	exon_skip_114378	74759857	74760013	74759934	74759935	Frame_Shift_Ins	-	GC	p.H246fs
HNSC	TCGA-CR-7371-01	exon_skip_114390	74761851	74761901	74761852	74761852	Nonsense_Mutation	T	A	p.R240*
SKCM	TCGA-D3-A8GL-06	exon_skip_114397	74763036	74763152	74763040	74763040	Nonsense_Mutation	G	A	p.Q180*

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

Depth of coverage in three exons	Mutation description
	Sample: TCGA-XM-A8RF-01
	Cancer type: THYM
	ESID: exon_skip_114378
	Skipped exon start: 74759857
	Skipped exon end: 74760013
	Mutation start: 74759934
	Mutation end: 74759935
	Mutation type: Frame_Shift_Ins
	Reference seq: -
	Mutation seq: GC
	AAchange: p.H246fs
	Sample: TCGA-XM-A8RF-01
	Cancer type: THYM
	ESID: exon_skip_114377
	Skipped exon start: 74759857
	Skipped exon end: 74759982
	Mutation start: 74759934
	Mutation end: 74759935
	Mutation type: Frame_Shift_Ins
	Reference seq: -
	Mutation seq: GC
	AAchange: p.H246fs
	Sample: TCGA-XM-A8RF-01
	Cancer type: THYM
	ESID: exon_skip_114376
	Skipped exon start: 74759857
	Skipped exon end: 74759951
	Mutation start: 74759934
	Mutation end: 74759935
	Mutation type: Frame_Shift_Ins
	Reference seq: -
	Mutation seq: GC
	AAchange: p.H246fs
exon_skip_114377_THYM_TCGA-XM-A8RF-01.png
exon_skip_114378_THYM_TCGA-XM-A8RF-01.png
	Sample: TCGA-XM-A8RF-01
	Cancer type: THYM
	ESID: exon_skip_114378
	Skipped exon start: 74759857
	Skipped exon end: 74760013
	Mutation start: 74759934
	Mutation end: 74759935
	Mutation type: Frame_Shift_Ins
	Reference seq: -
	Mutation seq: GC
	AAchange: p.H246fs
	Sample: TCGA-XM-A8RF-01
	Cancer type: THYM
	ESID: exon_skip_114377
	Skipped exon start: 74759857
	Skipped exon end: 74759982
	Mutation start: 74759934
	Mutation end: 74759935
	Mutation type: Frame_Shift_Ins
	Reference seq: -
	Mutation seq: GC
	AAchange: p.H246fs
	Sample: TCGA-XM-A8RF-01
	Cancer type: THYM
	ESID: exon_skip_114376
	Skipped exon start: 74759857
	Skipped exon end: 74759951
	Mutation start: 74759934
	Mutation end: 74759935
	Mutation type: Frame_Shift_Ins
	Reference seq: -
	Mutation seq: GC
	AAchange: p.H246fs
exon_skip_114377_THYM_TCGA-XM-A8RF-01.png
exon_skip_114378_THYM_TCGA-XM-A8RF-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
JHUEM1_ENDOMETRIUM	74766853	74766971	74766893	74766894	Frame_Shift_Ins	-	T	p.N39fs
CAL51_BREAST	74754910	74754962	74754953	74754953	Missense_Mutation	C	A	p.V506L
EN_ENDOMETRIUM	74754910	74754962	74754958	74754958	Missense_Mutation	T	C	p.N504S
HCC2998_LARGE_INTESTINE	74755419	74755468	74755437	74755437	Missense_Mutation	G	T	p.F496L
HCC2998_LARGE_INTESTINE	74755363	74755468	74755437	74755437	Missense_Mutation	G	T	p.F496L
EN_ENDOMETRIUM	74755419	74755468	74755442	74755442	Missense_Mutation	T	C	p.R495G
EN_ENDOMETRIUM	74755363	74755468	74755442	74755442	Missense_Mutation	T	C	p.R495G
H3118_UPPER_AERODIGESTIVE_TRACT	74756730	74756821	74756737	74756737	Missense_Mutation	C	T	p.R471Q
SW48_LARGE_INTESTINE	74756730	74756821	74756753	74756753	Missense_Mutation	T	C	p.T466A
HUH6_LIVER	74759254	74759345	74759336	74759336	Missense_Mutation	C	A	p.V316L
HUH6CLONE5_LIVER	74759254	74759345	74759336	74759336	Missense_Mutation	C	A	p.V316L
TGBC11TKB_STOMACH	74759857	74760013	74759871	74759871	Missense_Mutation	T	C	p.E267G
TGBC11TKB_STOMACH	74759857	74759982	74759871	74759871	Missense_Mutation	T	C	p.E267G
TGBC11TKB_STOMACH	74759857	74759951	74759871	74759871	Missense_Mutation	T	C	p.E267G
BICR18_UPPER_AERODIGESTIVE_TRACT	74759857	74760013	74759874	74759874	Missense_Mutation	T	C	p.K266R
BICR18_UPPER_AERODIGESTIVE_TRACT	74759857	74759982	74759874	74759874	Missense_Mutation	T	C	p.K266R
BICR18_UPPER_AERODIGESTIVE_TRACT	74759857	74759951	74759874	74759874	Missense_Mutation	T	C	p.K266R
HEC50B_ENDOMETRIUM	74759857	74760013	74759907	74759907	Missense_Mutation	C	T	p.R255K
HEC50B_ENDOMETRIUM	74759857	74759982	74759907	74759907	Missense_Mutation	C	T	p.R255K
HEC50B_ENDOMETRIUM	74759857	74759951	74759907	74759907	Missense_Mutation	C	T	p.R255K
NCIH838_LUNG	74759857	74760013	74759910	74759910	Missense_Mutation	T	C	p.Q254R
NCIH838_LUNG	74759857	74759982	74759910	74759910	Missense_Mutation	T	C	p.Q254R
NCIH838_LUNG	74759857	74759951	74759910	74759910	Missense_Mutation	T	C	p.Q254R
MDAMB157_BREAST	74762557	74762682	74762575	74762575	Missense_Mutation	T	G	p.K217T
VMRCRCW_KIDNEY	74763036	74763152	74763100	74763100	Missense_Mutation	T	C	p.M160V
MZ7MEL_SKIN	74763036	74763152	74763109	74763109	Missense_Mutation	G	A	p.L157F
KATOIII_STOMACH	74763036	74763152	74763112	74763112	Missense_Mutation	G	T	p.Q156K
BT20_BREAST	74763036	74763152	74763117	74763117	Missense_Mutation	C	A	p.C154F
EW16_BONE	74764342	74764772	74764660	74764660	Missense_Mutation	T	G	p.N133T
EW16_BONE	74764633	74764772	74764660	74764660	Missense_Mutation	T	G	p.N133T
BICR18_UPPER_AERODIGESTIVE_TRACT	74764342	74764772	74764696	74764696	Missense_Mutation	C	T	p.R121H
BICR18_UPPER_AERODIGESTIVE_TRACT	74764633	74764772	74764696	74764696	Missense_Mutation	C	T	p.R121H
SNU349_KIDNEY	74764342	74764772	74764736	74764736	Missense_Mutation	A	G	p.Y108H
SNU349_KIDNEY	74764633	74764772	74764736	74764736	Missense_Mutation	A	G	p.Y108H
KHM1B_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	74764342	74764772	74764757	74764757	Missense_Mutation	G	T	p.Q101K
KHM1B_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	74764633	74764772	74764757	74764757	Missense_Mutation	G	T	p.Q101K
K5_THYROID	74766251	74766378	74766292	74766292	Missense_Mutation	G	C	p.L82V
EN_ENDOMETRIUM	74766853	74766971	74766871	74766871	Missense_Mutation	A	T	p.L47M
NCIH1155_LUNG	74759857	74760013	74759911	74759911	Nonsense_Mutation	G	A	p.Q254*
NCIH1155_LUNG	74759857	74759982	74759911	74759911	Nonsense_Mutation	G	A	p.Q254*
NCIH1155_LUNG	74759857	74759951	74759911	74759911	Nonsense_Mutation	G	A	p.Q254*
HGC27_STOMACH	74763036	74763152	74763040	74763040	Nonsense_Mutation	G	A	p.Q180*
HEC6_ENDOMETRIUM	74766251	74766378	74766340	74766340	Nonsense_Mutation	G	A	p.Q66*
NCIH2110_LUNG	74766853	74766971	74766898	74766898	Nonsense_Mutation	G	A	p.Q38*
KCL22_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	74756186	74756222	74756222	74756222	Splice_Site	C	T	p.V474M
NCIH2073_LUNG	74756186	74756222	74756222	74756222	Splice_Site	C	A	p.V474L
COLO829_MATCHED_NORMAL_TISSUE	74756730	74756821	74756821	74756821	Splice_Site	C	T	p.G443D

Top

Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for ABCD4

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_114370	14	74759024:74759079:74759253:74759345:74759450:74759529	74759253:74759345	ENST00000496015.1,ENST00000481935.1,ENST00000298816.7,ENST00000553486.1,ENST00000474270.1,ENST00000356924.4,ENST00000469672.1,ENST00000556119.1,ENST00000460308.2,ENST00000553745.1	GBM	rs4148078	chr14:74759301	G/T	5.12e-12
exon_skip_114370	14	74759024:74759079:74759253:74759345:74759450:74759529	74759253:74759345	ENST00000496015.1,ENST00000481935.1,ENST00000298816.7,ENST00000553486.1,ENST00000474270.1,ENST00000356924.4,ENST00000469672.1,ENST00000556119.1,ENST00000460308.2,ENST00000553745.1	GBM	rs4148078	chr14:74759301	G/T	2.99e-04
exon_skip_114370	14	74759024:74759079:74759253:74759345:74759450:74759529	74759253:74759345	ENST00000496015.1,ENST00000481935.1,ENST00000298816.7,ENST00000553486.1,ENST00000474270.1,ENST00000356924.4,ENST00000469672.1,ENST00000556119.1,ENST00000460308.2,ENST00000553745.1	CESC	rs4148078	chr14:74759301	G/T	3.31e-12
exon_skip_114370	14	74759024:74759079:74759253:74759345:74759450:74759529	74759253:74759345	ENST00000496015.1,ENST00000481935.1,ENST00000298816.7,ENST00000553486.1,ENST00000474270.1,ENST00000356924.4,ENST00000469672.1,ENST00000556119.1,ENST00000460308.2,ENST00000553745.1	CESC	rs4148078	chr14:74759301	G/T	3.60e-05
exon_skip_114370	14	74759024:74759079:74759253:74759345:74759450:74759529	74759253:74759345	ENST00000496015.1,ENST00000481935.1,ENST00000298816.7,ENST00000553486.1,ENST00000474270.1,ENST00000356924.4,ENST00000469672.1,ENST00000556119.1,ENST00000460308.2,ENST00000553745.1	COAD	rs4148078	chr14:74759301	G/T	7.51e-11
exon_skip_114370	14	74759024:74759079:74759253:74759345:74759450:74759529	74759253:74759345	ENST00000496015.1,ENST00000481935.1,ENST00000298816.7,ENST00000553486.1,ENST00000474270.1,ENST00000356924.4,ENST00000469672.1,ENST00000556119.1,ENST00000460308.2,ENST00000553745.1	COAD	rs4148078	chr14:74759301	G/T	1.58e-10
exon_skip_114370	14	74759024:74759079:74759253:74759345:74759450:74759529	74759253:74759345	ENST00000496015.1,ENST00000481935.1,ENST00000298816.7,ENST00000553486.1,ENST00000474270.1,ENST00000356924.4,ENST00000469672.1,ENST00000556119.1,ENST00000460308.2,ENST00000553745.1	COAD	rs4148078	chr14:74759301	G/T	2.03e-03
exon_skip_114370	14	74759024:74759079:74759253:74759345:74759450:74759529	74759253:74759345	ENST00000496015.1,ENST00000481935.1,ENST00000298816.7,ENST00000553486.1,ENST00000474270.1,ENST00000356924.4,ENST00000469672.1,ENST00000556119.1,ENST00000460308.2,ENST00000553745.1	BLCA	rs4148078	chr14:74759301	G/T	4.89e-10
exon_skip_114370	14	74759024:74759079:74759253:74759345:74759450:74759529	74759253:74759345	ENST00000496015.1,ENST00000481935.1,ENST00000298816.7,ENST00000553486.1,ENST00000474270.1,ENST00000356924.4,ENST00000469672.1,ENST00000556119.1,ENST00000460308.2,ENST00000553745.1	ESCA	rs4148078	chr14:74759301	G/T	1.37e-08
exon_skip_114370	14	74759024:74759079:74759253:74759345:74759450:74759529	74759253:74759345	ENST00000496015.1,ENST00000481935.1,ENST00000298816.7,ENST00000553486.1,ENST00000474270.1,ENST00000356924.4,ENST00000469672.1,ENST00000556119.1,ENST00000460308.2,ENST00000553745.1	ESCA	rs4148078	chr14:74759301	G/T	4.20e-05
exon_skip_114370	14	74759024:74759079:74759253:74759345:74759450:74759529	74759253:74759345	ENST00000496015.1,ENST00000481935.1,ENST00000298816.7,ENST00000553486.1,ENST00000474270.1,ENST00000356924.4,ENST00000469672.1,ENST00000556119.1,ENST00000460308.2,ENST00000553745.1	HNSC	rs4148078	chr14:74759301	G/T	9.86e-16
exon_skip_114370	14	74759024:74759079:74759253:74759345:74759450:74759529	74759253:74759345	ENST00000496015.1,ENST00000481935.1,ENST00000298816.7,ENST00000553486.1,ENST00000474270.1,ENST00000356924.4,ENST00000469672.1,ENST00000556119.1,ENST00000460308.2,ENST00000553745.1	HNSC	rs4148078	chr14:74759301	G/T	2.83e-06
exon_skip_114370	14	74759024:74759079:74759253:74759345:74759450:74759529	74759253:74759345	ENST00000496015.1,ENST00000481935.1,ENST00000298816.7,ENST00000553486.1,ENST00000474270.1,ENST00000356924.4,ENST00000469672.1,ENST00000556119.1,ENST00000460308.2,ENST00000553745.1	BRCA	rs4148078	chr14:74759301	G/T	5.47e-39
exon_skip_114370	14	74759024:74759079:74759253:74759345:74759450:74759529	74759253:74759345	ENST00000496015.1,ENST00000481935.1,ENST00000298816.7,ENST00000553486.1,ENST00000474270.1,ENST00000356924.4,ENST00000469672.1,ENST00000556119.1,ENST00000460308.2,ENST00000553745.1	BRCA	rs4148078	chr14:74759301	G/T	2.62e-15
exon_skip_114370	14	74759024:74759079:74759253:74759345:74759450:74759529	74759253:74759345	ENST00000496015.1,ENST00000481935.1,ENST00000298816.7,ENST00000553486.1,ENST00000474270.1,ENST00000356924.4,ENST00000469672.1,ENST00000556119.1,ENST00000460308.2,ENST00000553745.1	BRCA	rs4148078	chr14:74759301	G/T	3.77e-06
exon_skip_114370	14	74759024:74759079:74759253:74759345:74759450:74759529	74759253:74759345	ENST00000496015.1,ENST00000481935.1,ENST00000298816.7,ENST00000553486.1,ENST00000474270.1,ENST00000356924.4,ENST00000469672.1,ENST00000556119.1,ENST00000460308.2,ENST00000553745.1	BRCA	rs4148078	chr14:74759301	G/T	5.13e-06
exon_skip_114370	14	74759024:74759079:74759253:74759345:74759450:74759529	74759253:74759345	ENST00000496015.1,ENST00000481935.1,ENST00000298816.7,ENST00000553486.1,ENST00000474270.1,ENST00000356924.4,ENST00000469672.1,ENST00000556119.1,ENST00000460308.2,ENST00000553745.1	BRCA	rs4148078	chr14:74759301	G/T	2.08e-03
exon_skip_114370	14	74759024:74759079:74759253:74759345:74759450:74759529	74759253:74759345	ENST00000496015.1,ENST00000481935.1,ENST00000298816.7,ENST00000553486.1,ENST00000474270.1,ENST00000356924.4,ENST00000469672.1,ENST00000556119.1,ENST00000460308.2,ENST00000553745.1	KIRP	rs4148078	chr14:74759301	G/T	1.70e-06
exon_skip_114370	14	74759024:74759079:74759253:74759345:74759450:74759529	74759253:74759345	ENST00000496015.1,ENST00000481935.1,ENST00000298816.7,ENST00000553486.1,ENST00000474270.1,ENST00000356924.4,ENST00000469672.1,ENST00000556119.1,ENST00000460308.2,ENST00000553745.1	KIRP	rs4148078	chr14:74759301	G/T	1.21e-03
exon_skip_114370	14	74759024:74759079:74759253:74759345:74759450:74759529	74759253:74759345	ENST00000496015.1,ENST00000481935.1,ENST00000298816.7,ENST00000553486.1,ENST00000474270.1,ENST00000356924.4,ENST00000469672.1,ENST00000556119.1,ENST00000460308.2,ENST00000553745.1	KIRP	rs4148078	chr14:74759301	G/T	1.21e-03
exon_skip_114370	14	74759024:74759079:74759253:74759345:74759450:74759529	74759253:74759345	ENST00000496015.1,ENST00000481935.1,ENST00000298816.7,ENST00000553486.1,ENST00000474270.1,ENST00000356924.4,ENST00000469672.1,ENST00000556119.1,ENST00000460308.2,ENST00000553745.1	LGG	rs4148078	chr14:74759301	G/T	1.35e-12
exon_skip_114370	14	74759024:74759079:74759253:74759345:74759450:74759529	74759253:74759345	ENST00000496015.1,ENST00000481935.1,ENST00000298816.7,ENST00000553486.1,ENST00000474270.1,ENST00000356924.4,ENST00000469672.1,ENST00000556119.1,ENST00000460308.2,ENST00000553745.1	LGG	rs4148078	chr14:74759301	G/T	3.15e-08
exon_skip_114370	14	74759024:74759079:74759253:74759345:74759450:74759529	74759253:74759345	ENST00000496015.1,ENST00000481935.1,ENST00000298816.7,ENST00000553486.1,ENST00000474270.1,ENST00000356924.4,ENST00000469672.1,ENST00000556119.1,ENST00000460308.2,ENST00000553745.1	LGG	rs4148078	chr14:74759301	G/T	1.69e-05
exon_skip_114370	14	74759024:74759079:74759253:74759345:74759450:74759529	74759253:74759345	ENST00000496015.1,ENST00000481935.1,ENST00000298816.7,ENST00000553486.1,ENST00000474270.1,ENST00000356924.4,ENST00000469672.1,ENST00000556119.1,ENST00000460308.2,ENST00000553745.1	LGG	rs4148078	chr14:74759301	G/T	1.97e-03
exon_skip_114370	14	74759024:74759079:74759253:74759345:74759450:74759529	74759253:74759345	ENST00000496015.1,ENST00000481935.1,ENST00000298816.7,ENST00000553486.1,ENST00000474270.1,ENST00000356924.4,ENST00000469672.1,ENST00000556119.1,ENST00000460308.2,ENST00000553745.1	LGG	rs4148078	chr14:74759301	G/T	3.18e-03
exon_skip_114370	14	74759024:74759079:74759253:74759345:74759450:74759529	74759253:74759345	ENST00000496015.1,ENST00000481935.1,ENST00000298816.7,ENST00000553486.1,ENST00000474270.1,ENST00000356924.4,ENST00000469672.1,ENST00000556119.1,ENST00000460308.2,ENST00000553745.1	KIRC	rs4148078	chr14:74759301	G/T	2.88e-35
exon_skip_114370	14	74759024:74759079:74759253:74759345:74759450:74759529	74759253:74759345	ENST00000496015.1,ENST00000481935.1,ENST00000298816.7,ENST00000553486.1,ENST00000474270.1,ENST00000356924.4,ENST00000469672.1,ENST00000556119.1,ENST00000460308.2,ENST00000553745.1	KIRC	rs4148078	chr14:74759301	G/T	1.66e-09
exon_skip_114370	14	74759024:74759079:74759253:74759345:74759450:74759529	74759253:74759345	ENST00000496015.1,ENST00000481935.1,ENST00000298816.7,ENST00000553486.1,ENST00000474270.1,ENST00000356924.4,ENST00000469672.1,ENST00000556119.1,ENST00000460308.2,ENST00000553745.1	KIRC	rs4148078	chr14:74759301	G/T	2.06e-03
exon_skip_114370	14	74759024:74759079:74759253:74759345:74759450:74759529	74759253:74759345	ENST00000496015.1,ENST00000481935.1,ENST00000298816.7,ENST00000553486.1,ENST00000474270.1,ENST00000356924.4,ENST00000469672.1,ENST00000556119.1,ENST00000460308.2,ENST00000553745.1	LUAD	rs4148078	chr14:74759301	G/T	6.64e-14
exon_skip_114370	14	74759024:74759079:74759253:74759345:74759450:74759529	74759253:74759345	ENST00000496015.1,ENST00000481935.1,ENST00000298816.7,ENST00000553486.1,ENST00000474270.1,ENST00000356924.4,ENST00000469672.1,ENST00000556119.1,ENST00000460308.2,ENST00000553745.1	LUAD	rs4148078	chr14:74759301	G/T	1.71e-10
exon_skip_114370	14	74759024:74759079:74759253:74759345:74759450:74759529	74759253:74759345	ENST00000496015.1,ENST00000481935.1,ENST00000298816.7,ENST00000553486.1,ENST00000474270.1,ENST00000356924.4,ENST00000469672.1,ENST00000556119.1,ENST00000460308.2,ENST00000553745.1	LUAD	rs4148078	chr14:74759301	G/T	4.97e-04
exon_skip_114370	14	74759024:74759079:74759253:74759345:74759450:74759529	74759253:74759345	ENST00000496015.1,ENST00000481935.1,ENST00000298816.7,ENST00000553486.1,ENST00000474270.1,ENST00000356924.4,ENST00000469672.1,ENST00000556119.1,ENST00000460308.2,ENST00000553745.1	LUAD	rs4148078	chr14:74759301	G/T	8.44e-04
exon_skip_114370	14	74759024:74759079:74759253:74759345:74759450:74759529	74759253:74759345	ENST00000496015.1,ENST00000481935.1,ENST00000298816.7,ENST00000553486.1,ENST00000474270.1,ENST00000356924.4,ENST00000469672.1,ENST00000556119.1,ENST00000460308.2,ENST00000553745.1	MESO	rs4148078	chr14:74759301	G/T	2.87e-04
exon_skip_114370	14	74759024:74759079:74759253:74759345:74759450:74759529	74759253:74759345	ENST00000496015.1,ENST00000481935.1,ENST00000298816.7,ENST00000553486.1,ENST00000474270.1,ENST00000356924.4,ENST00000469672.1,ENST00000556119.1,ENST00000460308.2,ENST00000553745.1	LIHC	rs4148078	chr14:74759301	G/T	9.94e-10
exon_skip_114370	14	74759024:74759079:74759253:74759345:74759450:74759529	74759253:74759345	ENST00000496015.1,ENST00000481935.1,ENST00000298816.7,ENST00000553486.1,ENST00000474270.1,ENST00000356924.4,ENST00000469672.1,ENST00000556119.1,ENST00000460308.2,ENST00000553745.1	LIHC	rs4148078	chr14:74759301	G/T	1.29e-03
exon_skip_114370	14	74759024:74759079:74759253:74759345:74759450:74759529	74759253:74759345	ENST00000496015.1,ENST00000481935.1,ENST00000298816.7,ENST00000553486.1,ENST00000474270.1,ENST00000356924.4,ENST00000469672.1,ENST00000556119.1,ENST00000460308.2,ENST00000553745.1	LUSC	rs4148078	chr14:74759301	G/T	6.43e-21
exon_skip_114370	14	74759024:74759079:74759253:74759345:74759450:74759529	74759253:74759345	ENST00000496015.1,ENST00000481935.1,ENST00000298816.7,ENST00000553486.1,ENST00000474270.1,ENST00000356924.4,ENST00000469672.1,ENST00000556119.1,ENST00000460308.2,ENST00000553745.1	LUSC	rs4148078	chr14:74759301	G/T	9.38e-05
exon_skip_114370	14	74759024:74759079:74759253:74759345:74759450:74759529	74759253:74759345	ENST00000496015.1,ENST00000481935.1,ENST00000298816.7,ENST00000553486.1,ENST00000474270.1,ENST00000356924.4,ENST00000469672.1,ENST00000556119.1,ENST00000460308.2,ENST00000553745.1	LUSC	rs4148078	chr14:74759301	G/T	1.19e-03
exon_skip_114370	14	74759024:74759079:74759253:74759345:74759450:74759529	74759253:74759345	ENST00000496015.1,ENST00000481935.1,ENST00000298816.7,ENST00000553486.1,ENST00000474270.1,ENST00000356924.4,ENST00000469672.1,ENST00000556119.1,ENST00000460308.2,ENST00000553745.1	OV	rs4148078	chr14:74759301	G/T	5.79e-21
exon_skip_114370	14	74759024:74759079:74759253:74759345:74759450:74759529	74759253:74759345	ENST00000496015.1,ENST00000481935.1,ENST00000298816.7,ENST00000553486.1,ENST00000474270.1,ENST00000356924.4,ENST00000469672.1,ENST00000556119.1,ENST00000460308.2,ENST00000553745.1	OV	rs4148078	chr14:74759301	G/T	1.67e-08
exon_skip_114370	14	74759024:74759079:74759253:74759345:74759450:74759529	74759253:74759345	ENST00000496015.1,ENST00000481935.1,ENST00000298816.7,ENST00000553486.1,ENST00000474270.1,ENST00000356924.4,ENST00000469672.1,ENST00000556119.1,ENST00000460308.2,ENST00000553745.1	OV	rs4148078	chr14:74759301	G/T	2.43e-06
exon_skip_114370	14	74759024:74759079:74759253:74759345:74759450:74759529	74759253:74759345	ENST00000496015.1,ENST00000481935.1,ENST00000298816.7,ENST00000553486.1,ENST00000474270.1,ENST00000356924.4,ENST00000469672.1,ENST00000556119.1,ENST00000460308.2,ENST00000553745.1	PCPG	rs4148078	chr14:74759301	G/T	4.21e-07
exon_skip_114370	14	74759024:74759079:74759253:74759345:74759450:74759529	74759253:74759345	ENST00000496015.1,ENST00000481935.1,ENST00000298816.7,ENST00000553486.1,ENST00000474270.1,ENST00000356924.4,ENST00000469672.1,ENST00000556119.1,ENST00000460308.2,ENST00000553745.1	PAAD	rs4148078	chr14:74759301	G/T	3.93e-07
exon_skip_114370	14	74759024:74759079:74759253:74759345:74759450:74759529	74759253:74759345	ENST00000496015.1,ENST00000481935.1,ENST00000298816.7,ENST00000553486.1,ENST00000474270.1,ENST00000356924.4,ENST00000469672.1,ENST00000556119.1,ENST00000460308.2,ENST00000553745.1	PAAD	rs4148078	chr14:74759301	G/T	2.21e-04
exon_skip_114370	14	74759024:74759079:74759253:74759345:74759450:74759529	74759253:74759345	ENST00000496015.1,ENST00000481935.1,ENST00000298816.7,ENST00000553486.1,ENST00000474270.1,ENST00000356924.4,ENST00000469672.1,ENST00000556119.1,ENST00000460308.2,ENST00000553745.1	PRAD	rs4148078	chr14:74759301	G/T	2.26e-20
exon_skip_114370	14	74759024:74759079:74759253:74759345:74759450:74759529	74759253:74759345	ENST00000496015.1,ENST00000481935.1,ENST00000298816.7,ENST00000553486.1,ENST00000474270.1,ENST00000356924.4,ENST00000469672.1,ENST00000556119.1,ENST00000460308.2,ENST00000553745.1	PRAD	rs4148078	chr14:74759301	G/T	8.26e-13
exon_skip_114370	14	74759024:74759079:74759253:74759345:74759450:74759529	74759253:74759345	ENST00000496015.1,ENST00000481935.1,ENST00000298816.7,ENST00000553486.1,ENST00000474270.1,ENST00000356924.4,ENST00000469672.1,ENST00000556119.1,ENST00000460308.2,ENST00000553745.1	PRAD	rs4148078	chr14:74759301	G/T	4.87e-04
exon_skip_114370	14	74759024:74759079:74759253:74759345:74759450:74759529	74759253:74759345	ENST00000496015.1,ENST00000481935.1,ENST00000298816.7,ENST00000553486.1,ENST00000474270.1,ENST00000356924.4,ENST00000469672.1,ENST00000556119.1,ENST00000460308.2,ENST00000553745.1	SARC	rs4148078	chr14:74759301	G/T	2.96e-08
exon_skip_114370	14	74759024:74759079:74759253:74759345:74759450:74759529	74759253:74759345	ENST00000496015.1,ENST00000481935.1,ENST00000298816.7,ENST00000553486.1,ENST00000474270.1,ENST00000356924.4,ENST00000469672.1,ENST00000556119.1,ENST00000460308.2,ENST00000553745.1	SARC	rs4148078	chr14:74759301	G/T	2.05e-05
exon_skip_114370	14	74759024:74759079:74759253:74759345:74759450:74759529	74759253:74759345	ENST00000496015.1,ENST00000481935.1,ENST00000298816.7,ENST00000553486.1,ENST00000474270.1,ENST00000356924.4,ENST00000469672.1,ENST00000556119.1,ENST00000460308.2,ENST00000553745.1	SARC	rs4148078	chr14:74759301	G/T	6.74e-04
exon_skip_114370	14	74759024:74759079:74759253:74759345:74759450:74759529	74759253:74759345	ENST00000496015.1,ENST00000481935.1,ENST00000298816.7,ENST00000553486.1,ENST00000474270.1,ENST00000356924.4,ENST00000469672.1,ENST00000556119.1,ENST00000460308.2,ENST00000553745.1	THYM	rs4148078	chr14:74759301	G/T	2.69e-04
exon_skip_114370	14	74759024:74759079:74759253:74759345:74759450:74759529	74759253:74759345	ENST00000496015.1,ENST00000481935.1,ENST00000298816.7,ENST00000553486.1,ENST00000474270.1,ENST00000356924.4,ENST00000469672.1,ENST00000556119.1,ENST00000460308.2,ENST00000553745.1	TGCT	rs4148078	chr14:74759301	G/T	7.90e-11
exon_skip_114370	14	74759024:74759079:74759253:74759345:74759450:74759529	74759253:74759345	ENST00000496015.1,ENST00000481935.1,ENST00000298816.7,ENST00000553486.1,ENST00000474270.1,ENST00000356924.4,ENST00000469672.1,ENST00000556119.1,ENST00000460308.2,ENST00000553745.1	TGCT	rs4148078	chr14:74759301	G/T	2.87e-06
exon_skip_114370	14	74759024:74759079:74759253:74759345:74759450:74759529	74759253:74759345	ENST00000496015.1,ENST00000481935.1,ENST00000298816.7,ENST00000553486.1,ENST00000474270.1,ENST00000356924.4,ENST00000469672.1,ENST00000556119.1,ENST00000460308.2,ENST00000553745.1	STAD	rs4148078	chr14:74759301	G/T	2.49e-11
exon_skip_114370	14	74759024:74759079:74759253:74759345:74759450:74759529	74759253:74759345	ENST00000496015.1,ENST00000481935.1,ENST00000298816.7,ENST00000553486.1,ENST00000474270.1,ENST00000356924.4,ENST00000469672.1,ENST00000556119.1,ENST00000460308.2,ENST00000553745.1	THCA	rs4148078	chr14:74759301	G/T	4.59e-38
exon_skip_114370	14	74759024:74759079:74759253:74759345:74759450:74759529	74759253:74759345	ENST00000496015.1,ENST00000481935.1,ENST00000298816.7,ENST00000553486.1,ENST00000474270.1,ENST00000356924.4,ENST00000469672.1,ENST00000556119.1,ENST00000460308.2,ENST00000553745.1	THCA	rs4148078	chr14:74759301	G/T	2.91e-11
exon_skip_114370	14	74759024:74759079:74759253:74759345:74759450:74759529	74759253:74759345	ENST00000496015.1,ENST00000481935.1,ENST00000298816.7,ENST00000553486.1,ENST00000474270.1,ENST00000356924.4,ENST00000469672.1,ENST00000556119.1,ENST00000460308.2,ENST00000553745.1	THCA	rs4148078	chr14:74759301	G/T	3.58e-07
exon_skip_114370	14	74759024:74759079:74759253:74759345:74759450:74759529	74759253:74759345	ENST00000496015.1,ENST00000481935.1,ENST00000298816.7,ENST00000553486.1,ENST00000474270.1,ENST00000356924.4,ENST00000469672.1,ENST00000556119.1,ENST00000460308.2,ENST00000553745.1	THCA	rs4148078	chr14:74759301	G/T	2.07e-03
exon_skip_114370	14	74759024:74759079:74759253:74759345:74759450:74759529	74759253:74759345	ENST00000496015.1,ENST00000481935.1,ENST00000298816.7,ENST00000553486.1,ENST00000474270.1,ENST00000356924.4,ENST00000469672.1,ENST00000556119.1,ENST00000460308.2,ENST00000553745.1	UVM	rs4148078	chr14:74759301	G/T	2.19e-04
exon_skip_114370	14	74759024:74759079:74759253:74759345:74759450:74759529	74759253:74759345	ENST00000496015.1,ENST00000481935.1,ENST00000298816.7,ENST00000553486.1,ENST00000474270.1,ENST00000356924.4,ENST00000469672.1,ENST00000556119.1,ENST00000460308.2,ENST00000553745.1	UCEC	rs4148078	chr14:74759301	G/T	1.51e-06
exon_skip_114397	14	74761850:74761901:74763035:74763152:74766250:74766378	74763035:74763152	ENST00000555617.1	UCEC	rs34992370	chr14:74763064	C/T	3.15e-13
exon_skip_114397	14	74761850:74761901:74763035:74763152:74766250:74766378	74763035:74763152	ENST00000555617.1	UCEC	rs36031534	chr14:74763086	G/C	3.15e-13
exon_skip_114423	14	74764678:74764772:74766250:74766378:74766852:74766971	74766250:74766378	ENST00000477803.1,ENST00000557588.1,ENST00000356924.4	CESC	rs2301345	chr14:74766352	A/G	5.06e-12
exon_skip_114423	14	74764678:74764772:74766250:74766378:74766852:74766971	74766250:74766378	ENST00000477803.1,ENST00000557588.1,ENST00000356924.4	CESC	rs2301345	chr14:74766352	A/G	9.02e-05
exon_skip_114423	14	74764678:74764772:74766250:74766378:74766852:74766971	74766250:74766378	ENST00000477803.1,ENST00000557588.1,ENST00000356924.4	COAD	rs2301345	chr14:74766352	A/G	2.77e-11
exon_skip_114423	14	74764678:74764772:74766250:74766378:74766852:74766971	74766250:74766378	ENST00000477803.1,ENST00000557588.1,ENST00000356924.4	COAD	rs2301345	chr14:74766352	A/G	1.04e-09
exon_skip_114423	14	74764678:74764772:74766250:74766378:74766852:74766971	74766250:74766378	ENST00000477803.1,ENST00000557588.1,ENST00000356924.4	BLCA	rs2301345	chr14:74766352	A/G	3.19e-10
exon_skip_114423	14	74764678:74764772:74766250:74766378:74766852:74766971	74766250:74766378	ENST00000477803.1,ENST00000557588.1,ENST00000356924.4	BLCA	rs2301345	chr14:74766352	A/G	1.01e-03
exon_skip_114423	14	74764678:74764772:74766250:74766378:74766852:74766971	74766250:74766378	ENST00000477803.1,ENST00000557588.1,ENST00000356924.4	ESCA	rs2301345	chr14:74766352	A/G	4.68e-08
exon_skip_114423	14	74764678:74764772:74766250:74766378:74766852:74766971	74766250:74766378	ENST00000477803.1,ENST00000557588.1,ENST00000356924.4	ESCA	rs2301345	chr14:74766352	A/G	6.73e-06
exon_skip_114423	14	74764678:74764772:74766250:74766378:74766852:74766971	74766250:74766378	ENST00000477803.1,ENST00000557588.1,ENST00000356924.4	HNSC	rs2301345	chr14:74766352	A/G	8.82e-16
exon_skip_114423	14	74764678:74764772:74766250:74766378:74766852:74766971	74766250:74766378	ENST00000477803.1,ENST00000557588.1,ENST00000356924.4	HNSC	rs2301345	chr14:74766352	A/G	7.76e-07
exon_skip_114423	14	74764678:74764772:74766250:74766378:74766852:74766971	74766250:74766378	ENST00000477803.1,ENST00000557588.1,ENST00000356924.4	KIRP	rs2301345	chr14:74766352	A/G	1.34e-06
exon_skip_114423	14	74764678:74764772:74766250:74766378:74766852:74766971	74766250:74766378	ENST00000477803.1,ENST00000557588.1,ENST00000356924.4	KIRP	rs2301345	chr14:74766352	A/G	7.61e-04
exon_skip_114423	14	74764678:74764772:74766250:74766378:74766852:74766971	74766250:74766378	ENST00000477803.1,ENST00000557588.1,ENST00000356924.4	LGG	rs2301345	chr14:74766352	A/G	2.42e-13
exon_skip_114423	14	74764678:74764772:74766250:74766378:74766852:74766971	74766250:74766378	ENST00000477803.1,ENST00000557588.1,ENST00000356924.4	LGG	rs2301345	chr14:74766352	A/G	1.58e-07
exon_skip_114423	14	74764678:74764772:74766250:74766378:74766852:74766971	74766250:74766378	ENST00000477803.1,ENST00000557588.1,ENST00000356924.4	LGG	rs2301345	chr14:74766352	A/G	1.50e-05
exon_skip_114423	14	74764678:74764772:74766250:74766378:74766852:74766971	74766250:74766378	ENST00000477803.1,ENST00000557588.1,ENST00000356924.4	LGG	rs2301345	chr14:74766352	A/G	3.10e-04
exon_skip_114423	14	74764678:74764772:74766250:74766378:74766852:74766971	74766250:74766378	ENST00000477803.1,ENST00000557588.1,ENST00000356924.4	LGG	rs2301345	chr14:74766352	A/G	1.68e-03
exon_skip_114423	14	74764678:74764772:74766250:74766378:74766852:74766971	74766250:74766378	ENST00000477803.1,ENST00000557588.1,ENST00000356924.4	KIRC	rs2301345	chr14:74766352	A/G	4.20e-35
exon_skip_114423	14	74764678:74764772:74766250:74766378:74766852:74766971	74766250:74766378	ENST00000477803.1,ENST00000557588.1,ENST00000356924.4	KIRC	rs2301345	chr14:74766352	A/G	7.66e-09
exon_skip_114423	14	74764678:74764772:74766250:74766378:74766852:74766971	74766250:74766378	ENST00000477803.1,ENST00000557588.1,ENST00000356924.4	KIRC	rs2301345	chr14:74766352	A/G	1.67e-03
exon_skip_114423	14	74764678:74764772:74766250:74766378:74766852:74766971	74766250:74766378	ENST00000477803.1,ENST00000557588.1,ENST00000356924.4	LUAD	rs2301345	chr14:74766352	A/G	1.41e-13
exon_skip_114423	14	74764678:74764772:74766250:74766378:74766852:74766971	74766250:74766378	ENST00000477803.1,ENST00000557588.1,ENST00000356924.4	LUAD	rs2301345	chr14:74766352	A/G	1.74e-11
exon_skip_114423	14	74764678:74764772:74766250:74766378:74766852:74766971	74766250:74766378	ENST00000477803.1,ENST00000557588.1,ENST00000356924.4	LUAD	rs2301345	chr14:74766352	A/G	7.54e-04
exon_skip_114423	14	74764678:74764772:74766250:74766378:74766852:74766971	74766250:74766378	ENST00000477803.1,ENST00000557588.1,ENST00000356924.4	LIHC	rs2301345	chr14:74766352	A/G	1.42e-08
exon_skip_114423	14	74764678:74764772:74766250:74766378:74766852:74766971	74766250:74766378	ENST00000477803.1,ENST00000557588.1,ENST00000356924.4	LIHC	rs2301345	chr14:74766352	A/G	1.43e-03
exon_skip_114423	14	74764678:74764772:74766250:74766378:74766852:74766971	74766250:74766378	ENST00000477803.1,ENST00000557588.1,ENST00000356924.4	LUSC	rs2301345	chr14:74766352	A/G	1.54e-19
exon_skip_114423	14	74764678:74764772:74766250:74766378:74766852:74766971	74766250:74766378	ENST00000477803.1,ENST00000557588.1,ENST00000356924.4	LUSC	rs2301345	chr14:74766352	A/G	4.59e-04
exon_skip_114423	14	74764678:74764772:74766250:74766378:74766852:74766971	74766250:74766378	ENST00000477803.1,ENST00000557588.1,ENST00000356924.4	PAAD	rs2301345	chr14:74766352	A/G	8.11e-07
exon_skip_114423	14	74764678:74764772:74766250:74766378:74766852:74766971	74766250:74766378	ENST00000477803.1,ENST00000557588.1,ENST00000356924.4	PAAD	rs2301345	chr14:74766352	A/G	1.71e-04
exon_skip_114423	14	74764678:74764772:74766250:74766378:74766852:74766971	74766250:74766378	ENST00000477803.1,ENST00000557588.1,ENST00000356924.4	PRAD	rs2301345	chr14:74766352	A/G	5.48e-19
exon_skip_114423	14	74764678:74764772:74766250:74766378:74766852:74766971	74766250:74766378	ENST00000477803.1,ENST00000557588.1,ENST00000356924.4	PRAD	rs2301345	chr14:74766352	A/G	1.53e-12
exon_skip_114423	14	74764678:74764772:74766250:74766378:74766852:74766971	74766250:74766378	ENST00000477803.1,ENST00000557588.1,ENST00000356924.4	PRAD	rs2301345	chr14:74766352	A/G	2.27e-04
exon_skip_114423	14	74764678:74764772:74766250:74766378:74766852:74766971	74766250:74766378	ENST00000477803.1,ENST00000557588.1,ENST00000356924.4	SARC	rs2301345	chr14:74766352	A/G	5.21e-07
exon_skip_114423	14	74764678:74764772:74766250:74766378:74766852:74766971	74766250:74766378	ENST00000477803.1,ENST00000557588.1,ENST00000356924.4	SARC	rs2301345	chr14:74766352	A/G	3.11e-06
exon_skip_114423	14	74764678:74764772:74766250:74766378:74766852:74766971	74766250:74766378	ENST00000477803.1,ENST00000557588.1,ENST00000356924.4	SARC	rs2301345	chr14:74766352	A/G	1.07e-03
exon_skip_114423	14	74764678:74764772:74766250:74766378:74766852:74766971	74766250:74766378	ENST00000477803.1,ENST00000557588.1,ENST00000356924.4	THYM	rs2301345	chr14:74766352	A/G	3.01e-04
exon_skip_114423	14	74764678:74764772:74766250:74766378:74766852:74766971	74766250:74766378	ENST00000477803.1,ENST00000557588.1,ENST00000356924.4	TGCT	rs2301345	chr14:74766352	A/G	1.75e-10
exon_skip_114423	14	74764678:74764772:74766250:74766378:74766852:74766971	74766250:74766378	ENST00000477803.1,ENST00000557588.1,ENST00000356924.4	TGCT	rs2301345	chr14:74766352	A/G	6.35e-06
exon_skip_114423	14	74764678:74764772:74766250:74766378:74766852:74766971	74766250:74766378	ENST00000477803.1,ENST00000557588.1,ENST00000356924.4	SKCM	rs2301345	chr14:74766352	A/G	1.22e-04
exon_skip_114423	14	74764678:74764772:74766250:74766378:74766852:74766971	74766250:74766378	ENST00000477803.1,ENST00000557588.1,ENST00000356924.4	STAD	rs2301345	chr14:74766352	A/G	3.68e-11
exon_skip_114423	14	74764678:74764772:74766250:74766378:74766852:74766971	74766250:74766378	ENST00000477803.1,ENST00000557588.1,ENST00000356924.4	STAD	rs2301345	chr14:74766352	A/G	1.39e-03
exon_skip_114423	14	74764678:74764772:74766250:74766378:74766852:74766971	74766250:74766378	ENST00000477803.1,ENST00000557588.1,ENST00000356924.4	THCA	rs2301345	chr14:74766352	A/G	1.15e-37
exon_skip_114423	14	74764678:74764772:74766250:74766378:74766852:74766971	74766250:74766378	ENST00000477803.1,ENST00000557588.1,ENST00000356924.4	THCA	rs2301345	chr14:74766352	A/G	3.45e-11
exon_skip_114423	14	74764678:74764772:74766250:74766378:74766852:74766971	74766250:74766378	ENST00000477803.1,ENST00000557588.1,ENST00000356924.4	THCA	rs2301345	chr14:74766352	A/G	2.25e-07
exon_skip_114423	14	74764678:74764772:74766250:74766378:74766852:74766971	74766250:74766378	ENST00000477803.1,ENST00000557588.1,ENST00000356924.4	THCA	rs2301345	chr14:74766352	A/G	2.61e-03
exon_skip_114423	14	74764678:74764772:74766250:74766378:74766852:74766971	74766250:74766378	ENST00000477803.1,ENST00000557588.1,ENST00000356924.4	UCEC	rs58272575	chr14:74766360	T/C	2.17e-12
exon_skip_114423	14	74764678:74764772:74766250:74766378:74766852:74766971	74766250:74766378	ENST00000477803.1,ENST00000557588.1,ENST00000356924.4	UCEC	rs2301345	chr14:74766352	A/G	6.45e-06
exon_skip_114424	14	74764678:74764772:74766250:74766378:74769577:74769613	74766250:74766378	ENST00000298816.7,ENST00000556971.1,ENST00000553745.1	CESC	rs2301345	chr14:74766352	A/G	5.06e-12
exon_skip_114424	14	74764678:74764772:74766250:74766378:74769577:74769613	74766250:74766378	ENST00000298816.7,ENST00000556971.1,ENST00000553745.1	CESC	rs2301345	chr14:74766352	A/G	9.02e-05
exon_skip_114424	14	74764678:74764772:74766250:74766378:74769577:74769613	74766250:74766378	ENST00000298816.7,ENST00000556971.1,ENST00000553745.1	COAD	rs2301345	chr14:74766352	A/G	2.77e-11
exon_skip_114424	14	74764678:74764772:74766250:74766378:74769577:74769613	74766250:74766378	ENST00000298816.7,ENST00000556971.1,ENST00000553745.1	COAD	rs2301345	chr14:74766352	A/G	1.04e-09
exon_skip_114424	14	74764678:74764772:74766250:74766378:74769577:74769613	74766250:74766378	ENST00000298816.7,ENST00000556971.1,ENST00000553745.1	BLCA	rs2301345	chr14:74766352	A/G	3.19e-10
exon_skip_114424	14	74764678:74764772:74766250:74766378:74769577:74769613	74766250:74766378	ENST00000298816.7,ENST00000556971.1,ENST00000553745.1	BLCA	rs2301345	chr14:74766352	A/G	1.01e-03
exon_skip_114424	14	74764678:74764772:74766250:74766378:74769577:74769613	74766250:74766378	ENST00000298816.7,ENST00000556971.1,ENST00000553745.1	ESCA	rs2301345	chr14:74766352	A/G	4.68e-08
exon_skip_114424	14	74764678:74764772:74766250:74766378:74769577:74769613	74766250:74766378	ENST00000298816.7,ENST00000556971.1,ENST00000553745.1	ESCA	rs2301345	chr14:74766352	A/G	6.73e-06
exon_skip_114424	14	74764678:74764772:74766250:74766378:74769577:74769613	74766250:74766378	ENST00000298816.7,ENST00000556971.1,ENST00000553745.1	HNSC	rs2301345	chr14:74766352	A/G	8.82e-16
exon_skip_114424	14	74764678:74764772:74766250:74766378:74769577:74769613	74766250:74766378	ENST00000298816.7,ENST00000556971.1,ENST00000553745.1	HNSC	rs2301345	chr14:74766352	A/G	7.76e-07
exon_skip_114424	14	74764678:74764772:74766250:74766378:74769577:74769613	74766250:74766378	ENST00000298816.7,ENST00000556971.1,ENST00000553745.1	KIRP	rs2301345	chr14:74766352	A/G	1.34e-06
exon_skip_114424	14	74764678:74764772:74766250:74766378:74769577:74769613	74766250:74766378	ENST00000298816.7,ENST00000556971.1,ENST00000553745.1	KIRP	rs2301345	chr14:74766352	A/G	7.61e-04
exon_skip_114424	14	74764678:74764772:74766250:74766378:74769577:74769613	74766250:74766378	ENST00000298816.7,ENST00000556971.1,ENST00000553745.1	LGG	rs2301345	chr14:74766352	A/G	2.42e-13
exon_skip_114424	14	74764678:74764772:74766250:74766378:74769577:74769613	74766250:74766378	ENST00000298816.7,ENST00000556971.1,ENST00000553745.1	LGG	rs2301345	chr14:74766352	A/G	1.58e-07
exon_skip_114424	14	74764678:74764772:74766250:74766378:74769577:74769613	74766250:74766378	ENST00000298816.7,ENST00000556971.1,ENST00000553745.1	LGG	rs2301345	chr14:74766352	A/G	1.50e-05
exon_skip_114424	14	74764678:74764772:74766250:74766378:74769577:74769613	74766250:74766378	ENST00000298816.7,ENST00000556971.1,ENST00000553745.1	LGG	rs2301345	chr14:74766352	A/G	3.10e-04
exon_skip_114424	14	74764678:74764772:74766250:74766378:74769577:74769613	74766250:74766378	ENST00000298816.7,ENST00000556971.1,ENST00000553745.1	LGG	rs2301345	chr14:74766352	A/G	1.68e-03
exon_skip_114424	14	74764678:74764772:74766250:74766378:74769577:74769613	74766250:74766378	ENST00000298816.7,ENST00000556971.1,ENST00000553745.1	KIRC	rs2301345	chr14:74766352	A/G	4.20e-35
exon_skip_114424	14	74764678:74764772:74766250:74766378:74769577:74769613	74766250:74766378	ENST00000298816.7,ENST00000556971.1,ENST00000553745.1	KIRC	rs2301345	chr14:74766352	A/G	7.66e-09
exon_skip_114424	14	74764678:74764772:74766250:74766378:74769577:74769613	74766250:74766378	ENST00000298816.7,ENST00000556971.1,ENST00000553745.1	KIRC	rs2301345	chr14:74766352	A/G	1.67e-03
exon_skip_114424	14	74764678:74764772:74766250:74766378:74769577:74769613	74766250:74766378	ENST00000298816.7,ENST00000556971.1,ENST00000553745.1	LUAD	rs2301345	chr14:74766352	A/G	1.41e-13
exon_skip_114424	14	74764678:74764772:74766250:74766378:74769577:74769613	74766250:74766378	ENST00000298816.7,ENST00000556971.1,ENST00000553745.1	LUAD	rs2301345	chr14:74766352	A/G	1.74e-11
exon_skip_114424	14	74764678:74764772:74766250:74766378:74769577:74769613	74766250:74766378	ENST00000298816.7,ENST00000556971.1,ENST00000553745.1	LUAD	rs2301345	chr14:74766352	A/G	7.54e-04
exon_skip_114424	14	74764678:74764772:74766250:74766378:74769577:74769613	74766250:74766378	ENST00000298816.7,ENST00000556971.1,ENST00000553745.1	LIHC	rs2301345	chr14:74766352	A/G	1.42e-08
exon_skip_114424	14	74764678:74764772:74766250:74766378:74769577:74769613	74766250:74766378	ENST00000298816.7,ENST00000556971.1,ENST00000553745.1	LIHC	rs2301345	chr14:74766352	A/G	1.43e-03
exon_skip_114424	14	74764678:74764772:74766250:74766378:74769577:74769613	74766250:74766378	ENST00000298816.7,ENST00000556971.1,ENST00000553745.1	LUSC	rs2301345	chr14:74766352	A/G	1.54e-19
exon_skip_114424	14	74764678:74764772:74766250:74766378:74769577:74769613	74766250:74766378	ENST00000298816.7,ENST00000556971.1,ENST00000553745.1	LUSC	rs2301345	chr14:74766352	A/G	4.59e-04
exon_skip_114424	14	74764678:74764772:74766250:74766378:74769577:74769613	74766250:74766378	ENST00000298816.7,ENST00000556971.1,ENST00000553745.1	PAAD	rs2301345	chr14:74766352	A/G	8.11e-07
exon_skip_114424	14	74764678:74764772:74766250:74766378:74769577:74769613	74766250:74766378	ENST00000298816.7,ENST00000556971.1,ENST00000553745.1	PAAD	rs2301345	chr14:74766352	A/G	1.71e-04
exon_skip_114424	14	74764678:74764772:74766250:74766378:74769577:74769613	74766250:74766378	ENST00000298816.7,ENST00000556971.1,ENST00000553745.1	PRAD	rs2301345	chr14:74766352	A/G	5.48e-19
exon_skip_114424	14	74764678:74764772:74766250:74766378:74769577:74769613	74766250:74766378	ENST00000298816.7,ENST00000556971.1,ENST00000553745.1	PRAD	rs2301345	chr14:74766352	A/G	1.53e-12
exon_skip_114424	14	74764678:74764772:74766250:74766378:74769577:74769613	74766250:74766378	ENST00000298816.7,ENST00000556971.1,ENST00000553745.1	PRAD	rs2301345	chr14:74766352	A/G	2.27e-04
exon_skip_114424	14	74764678:74764772:74766250:74766378:74769577:74769613	74766250:74766378	ENST00000298816.7,ENST00000556971.1,ENST00000553745.1	SARC	rs2301345	chr14:74766352	A/G	5.21e-07
exon_skip_114424	14	74764678:74764772:74766250:74766378:74769577:74769613	74766250:74766378	ENST00000298816.7,ENST00000556971.1,ENST00000553745.1	SARC	rs2301345	chr14:74766352	A/G	3.11e-06
exon_skip_114424	14	74764678:74764772:74766250:74766378:74769577:74769613	74766250:74766378	ENST00000298816.7,ENST00000556971.1,ENST00000553745.1	SARC	rs2301345	chr14:74766352	A/G	1.07e-03
exon_skip_114424	14	74764678:74764772:74766250:74766378:74769577:74769613	74766250:74766378	ENST00000298816.7,ENST00000556971.1,ENST00000553745.1	THYM	rs2301345	chr14:74766352	A/G	3.01e-04
exon_skip_114424	14	74764678:74764772:74766250:74766378:74769577:74769613	74766250:74766378	ENST00000298816.7,ENST00000556971.1,ENST00000553745.1	TGCT	rs2301345	chr14:74766352	A/G	1.75e-10
exon_skip_114424	14	74764678:74764772:74766250:74766378:74769577:74769613	74766250:74766378	ENST00000298816.7,ENST00000556971.1,ENST00000553745.1	TGCT	rs2301345	chr14:74766352	A/G	6.35e-06
exon_skip_114424	14	74764678:74764772:74766250:74766378:74769577:74769613	74766250:74766378	ENST00000298816.7,ENST00000556971.1,ENST00000553745.1	SKCM	rs2301345	chr14:74766352	A/G	1.22e-04
exon_skip_114424	14	74764678:74764772:74766250:74766378:74769577:74769613	74766250:74766378	ENST00000298816.7,ENST00000556971.1,ENST00000553745.1	STAD	rs2301345	chr14:74766352	A/G	3.68e-11
exon_skip_114424	14	74764678:74764772:74766250:74766378:74769577:74769613	74766250:74766378	ENST00000298816.7,ENST00000556971.1,ENST00000553745.1	STAD	rs2301345	chr14:74766352	A/G	1.39e-03
exon_skip_114424	14	74764678:74764772:74766250:74766378:74769577:74769613	74766250:74766378	ENST00000298816.7,ENST00000556971.1,ENST00000553745.1	THCA	rs2301345	chr14:74766352	A/G	1.15e-37
exon_skip_114424	14	74764678:74764772:74766250:74766378:74769577:74769613	74766250:74766378	ENST00000298816.7,ENST00000556971.1,ENST00000553745.1	THCA	rs2301345	chr14:74766352	A/G	3.45e-11
exon_skip_114424	14	74764678:74764772:74766250:74766378:74769577:74769613	74766250:74766378	ENST00000298816.7,ENST00000556971.1,ENST00000553745.1	THCA	rs2301345	chr14:74766352	A/G	2.25e-07
exon_skip_114424	14	74764678:74764772:74766250:74766378:74769577:74769613	74766250:74766378	ENST00000298816.7,ENST00000556971.1,ENST00000553745.1	THCA	rs2301345	chr14:74766352	A/G	2.61e-03
exon_skip_114424	14	74764678:74764772:74766250:74766378:74769577:74769613	74766250:74766378	ENST00000298816.7,ENST00000556971.1,ENST00000553745.1	UCEC	rs58272575	chr14:74766360	T/C	2.17e-12
exon_skip_114424	14	74764678:74764772:74766250:74766378:74769577:74769613	74766250:74766378	ENST00000298816.7,ENST00000556971.1,ENST00000553745.1	UCEC	rs2301345	chr14:74766352	A/G	6.45e-06
exon_skip_114341	14	74754513:74754589:74754909:74754962:74755362:74755468	74754909:74754962	ENST00000556517.1,ENST00000481348.1	UCEC	rs57773157	chr14:74754936	G/A	3.15e-13
exon_skip_114342	14	74754520:74754589:74754909:74754962:74755418:74755468	74754909:74754962	ENST00000555904.1,ENST00000481935.1,ENST00000298816.7,ENST00000553486.1,ENST00000474270.1,ENST00000356924.4,ENST00000553745.1	UCEC	rs57773157	chr14:74754936	G/A	3.15e-13
exon_skip_114404	14	74763035:74763152:74764341:74764772:74766852:74766971	74764341:74764772	ENST00000470637.1	UCEC	rs74063835	chr14:74764336	G/A	2.17e-12
exon_skip_114404	14	74763035:74763152:74764341:74764772:74766852:74766971	74764341:74764772	ENST00000470637.1	UCEC	rs74063838	chr14:74764408	G/A	2.17e-12
exon_skip_114404	14	74763035:74763152:74764341:74764772:74766852:74766971	74764341:74764772	ENST00000470637.1	UCEC	rs74063839	chr14:74764585	A/T	2.17e-12
exon_skip_114404	14	74763035:74763152:74764341:74764772:74766852:74766971	74764341:74764772	ENST00000470637.1	UCEC	rs61744947	chr14:74764675	G/A	2.17e-12
exon_skip_114409	14	74763035:74763152:74764632:74764772:74766250:74766378	74764632:74764772	ENST00000557588.1,ENST00000298816.7,ENST00000556971.1,ENST00000356924.4,ENST00000553745.1	UCEC	rs61744947	chr14:74764675	G/A	2.17e-12
exon_skip_114410	14	74763035:74763152:74764632:74764772:74766852:74766971	74764632:74764772	ENST00000481935.1,ENST00000553486.1,ENST00000460308.2	UCEC	rs61744947	chr14:74764675	G/A	2.17e-12
exon_skip_114416	14	74763035:74763152:74766250:74766378:74769577:74769613	74766250:74766378	ENST00000469672.1,ENST00000555617.1,ENST00000556119.1	CESC	rs2301345	chr14:74766352	A/G	5.06e-12
exon_skip_114416	14	74763035:74763152:74766250:74766378:74769577:74769613	74766250:74766378	ENST00000469672.1,ENST00000555617.1,ENST00000556119.1	CESC	rs2301345	chr14:74766352	A/G	9.02e-05
exon_skip_114416	14	74763035:74763152:74766250:74766378:74769577:74769613	74766250:74766378	ENST00000469672.1,ENST00000555617.1,ENST00000556119.1	COAD	rs2301345	chr14:74766352	A/G	2.77e-11
exon_skip_114416	14	74763035:74763152:74766250:74766378:74769577:74769613	74766250:74766378	ENST00000469672.1,ENST00000555617.1,ENST00000556119.1	COAD	rs2301345	chr14:74766352	A/G	1.04e-09
exon_skip_114416	14	74763035:74763152:74766250:74766378:74769577:74769613	74766250:74766378	ENST00000469672.1,ENST00000555617.1,ENST00000556119.1	BLCA	rs2301345	chr14:74766352	A/G	3.19e-10
exon_skip_114416	14	74763035:74763152:74766250:74766378:74769577:74769613	74766250:74766378	ENST00000469672.1,ENST00000555617.1,ENST00000556119.1	BLCA	rs2301345	chr14:74766352	A/G	1.01e-03
exon_skip_114416	14	74763035:74763152:74766250:74766378:74769577:74769613	74766250:74766378	ENST00000469672.1,ENST00000555617.1,ENST00000556119.1	ESCA	rs2301345	chr14:74766352	A/G	4.68e-08
exon_skip_114416	14	74763035:74763152:74766250:74766378:74769577:74769613	74766250:74766378	ENST00000469672.1,ENST00000555617.1,ENST00000556119.1	ESCA	rs2301345	chr14:74766352	A/G	6.73e-06
exon_skip_114416	14	74763035:74763152:74766250:74766378:74769577:74769613	74766250:74766378	ENST00000469672.1,ENST00000555617.1,ENST00000556119.1	HNSC	rs2301345	chr14:74766352	A/G	8.82e-16
exon_skip_114416	14	74763035:74763152:74766250:74766378:74769577:74769613	74766250:74766378	ENST00000469672.1,ENST00000555617.1,ENST00000556119.1	HNSC	rs2301345	chr14:74766352	A/G	7.76e-07
exon_skip_114416	14	74763035:74763152:74766250:74766378:74769577:74769613	74766250:74766378	ENST00000469672.1,ENST00000555617.1,ENST00000556119.1	KIRP	rs2301345	chr14:74766352	A/G	1.34e-06
exon_skip_114416	14	74763035:74763152:74766250:74766378:74769577:74769613	74766250:74766378	ENST00000469672.1,ENST00000555617.1,ENST00000556119.1	KIRP	rs2301345	chr14:74766352	A/G	7.61e-04
exon_skip_114416	14	74763035:74763152:74766250:74766378:74769577:74769613	74766250:74766378	ENST00000469672.1,ENST00000555617.1,ENST00000556119.1	LGG	rs2301345	chr14:74766352	A/G	2.42e-13
exon_skip_114416	14	74763035:74763152:74766250:74766378:74769577:74769613	74766250:74766378	ENST00000469672.1,ENST00000555617.1,ENST00000556119.1	LGG	rs2301345	chr14:74766352	A/G	1.58e-07
exon_skip_114416	14	74763035:74763152:74766250:74766378:74769577:74769613	74766250:74766378	ENST00000469672.1,ENST00000555617.1,ENST00000556119.1	LGG	rs2301345	chr14:74766352	A/G	1.50e-05
exon_skip_114416	14	74763035:74763152:74766250:74766378:74769577:74769613	74766250:74766378	ENST00000469672.1,ENST00000555617.1,ENST00000556119.1	LGG	rs2301345	chr14:74766352	A/G	3.10e-04
exon_skip_114416	14	74763035:74763152:74766250:74766378:74769577:74769613	74766250:74766378	ENST00000469672.1,ENST00000555617.1,ENST00000556119.1	LGG	rs2301345	chr14:74766352	A/G	1.68e-03
exon_skip_114416	14	74763035:74763152:74766250:74766378:74769577:74769613	74766250:74766378	ENST00000469672.1,ENST00000555617.1,ENST00000556119.1	KIRC	rs2301345	chr14:74766352	A/G	4.20e-35
exon_skip_114416	14	74763035:74763152:74766250:74766378:74769577:74769613	74766250:74766378	ENST00000469672.1,ENST00000555617.1,ENST00000556119.1	KIRC	rs2301345	chr14:74766352	A/G	7.66e-09
exon_skip_114416	14	74763035:74763152:74766250:74766378:74769577:74769613	74766250:74766378	ENST00000469672.1,ENST00000555617.1,ENST00000556119.1	KIRC	rs2301345	chr14:74766352	A/G	1.67e-03
exon_skip_114416	14	74763035:74763152:74766250:74766378:74769577:74769613	74766250:74766378	ENST00000469672.1,ENST00000555617.1,ENST00000556119.1	LUAD	rs2301345	chr14:74766352	A/G	1.41e-13
exon_skip_114416	14	74763035:74763152:74766250:74766378:74769577:74769613	74766250:74766378	ENST00000469672.1,ENST00000555617.1,ENST00000556119.1	LUAD	rs2301345	chr14:74766352	A/G	1.74e-11
exon_skip_114416	14	74763035:74763152:74766250:74766378:74769577:74769613	74766250:74766378	ENST00000469672.1,ENST00000555617.1,ENST00000556119.1	LUAD	rs2301345	chr14:74766352	A/G	7.54e-04
exon_skip_114416	14	74763035:74763152:74766250:74766378:74769577:74769613	74766250:74766378	ENST00000469672.1,ENST00000555617.1,ENST00000556119.1	LIHC	rs2301345	chr14:74766352	A/G	1.42e-08
exon_skip_114416	14	74763035:74763152:74766250:74766378:74769577:74769613	74766250:74766378	ENST00000469672.1,ENST00000555617.1,ENST00000556119.1	LIHC	rs2301345	chr14:74766352	A/G	1.43e-03
exon_skip_114416	14	74763035:74763152:74766250:74766378:74769577:74769613	74766250:74766378	ENST00000469672.1,ENST00000555617.1,ENST00000556119.1	LUSC	rs2301345	chr14:74766352	A/G	1.54e-19
exon_skip_114416	14	74763035:74763152:74766250:74766378:74769577:74769613	74766250:74766378	ENST00000469672.1,ENST00000555617.1,ENST00000556119.1	LUSC	rs2301345	chr14:74766352	A/G	4.59e-04
exon_skip_114416	14	74763035:74763152:74766250:74766378:74769577:74769613	74766250:74766378	ENST00000469672.1,ENST00000555617.1,ENST00000556119.1	PAAD	rs2301345	chr14:74766352	A/G	8.11e-07
exon_skip_114416	14	74763035:74763152:74766250:74766378:74769577:74769613	74766250:74766378	ENST00000469672.1,ENST00000555617.1,ENST00000556119.1	PAAD	rs2301345	chr14:74766352	A/G	1.71e-04
exon_skip_114416	14	74763035:74763152:74766250:74766378:74769577:74769613	74766250:74766378	ENST00000469672.1,ENST00000555617.1,ENST00000556119.1	PRAD	rs2301345	chr14:74766352	A/G	5.48e-19
exon_skip_114416	14	74763035:74763152:74766250:74766378:74769577:74769613	74766250:74766378	ENST00000469672.1,ENST00000555617.1,ENST00000556119.1	PRAD	rs2301345	chr14:74766352	A/G	1.53e-12
exon_skip_114416	14	74763035:74763152:74766250:74766378:74769577:74769613	74766250:74766378	ENST00000469672.1,ENST00000555617.1,ENST00000556119.1	PRAD	rs2301345	chr14:74766352	A/G	2.27e-04
exon_skip_114416	14	74763035:74763152:74766250:74766378:74769577:74769613	74766250:74766378	ENST00000469672.1,ENST00000555617.1,ENST00000556119.1	SARC	rs2301345	chr14:74766352	A/G	5.21e-07
exon_skip_114416	14	74763035:74763152:74766250:74766378:74769577:74769613	74766250:74766378	ENST00000469672.1,ENST00000555617.1,ENST00000556119.1	SARC	rs2301345	chr14:74766352	A/G	3.11e-06
exon_skip_114416	14	74763035:74763152:74766250:74766378:74769577:74769613	74766250:74766378	ENST00000469672.1,ENST00000555617.1,ENST00000556119.1	SARC	rs2301345	chr14:74766352	A/G	1.07e-03
exon_skip_114416	14	74763035:74763152:74766250:74766378:74769577:74769613	74766250:74766378	ENST00000469672.1,ENST00000555617.1,ENST00000556119.1	THYM	rs2301345	chr14:74766352	A/G	3.01e-04
exon_skip_114416	14	74763035:74763152:74766250:74766378:74769577:74769613	74766250:74766378	ENST00000469672.1,ENST00000555617.1,ENST00000556119.1	TGCT	rs2301345	chr14:74766352	A/G	1.75e-10
exon_skip_114416	14	74763035:74763152:74766250:74766378:74769577:74769613	74766250:74766378	ENST00000469672.1,ENST00000555617.1,ENST00000556119.1	TGCT	rs2301345	chr14:74766352	A/G	6.35e-06
exon_skip_114416	14	74763035:74763152:74766250:74766378:74769577:74769613	74766250:74766378	ENST00000469672.1,ENST00000555617.1,ENST00000556119.1	SKCM	rs2301345	chr14:74766352	A/G	1.22e-04
exon_skip_114416	14	74763035:74763152:74766250:74766378:74769577:74769613	74766250:74766378	ENST00000469672.1,ENST00000555617.1,ENST00000556119.1	STAD	rs2301345	chr14:74766352	A/G	3.68e-11
exon_skip_114416	14	74763035:74763152:74766250:74766378:74769577:74769613	74766250:74766378	ENST00000469672.1,ENST00000555617.1,ENST00000556119.1	STAD	rs2301345	chr14:74766352	A/G	1.39e-03
exon_skip_114416	14	74763035:74763152:74766250:74766378:74769577:74769613	74766250:74766378	ENST00000469672.1,ENST00000555617.1,ENST00000556119.1	THCA	rs2301345	chr14:74766352	A/G	1.15e-37
exon_skip_114416	14	74763035:74763152:74766250:74766378:74769577:74769613	74766250:74766378	ENST00000469672.1,ENST00000555617.1,ENST00000556119.1	THCA	rs2301345	chr14:74766352	A/G	3.45e-11
exon_skip_114416	14	74763035:74763152:74766250:74766378:74769577:74769613	74766250:74766378	ENST00000469672.1,ENST00000555617.1,ENST00000556119.1	THCA	rs2301345	chr14:74766352	A/G	2.25e-07
exon_skip_114416	14	74763035:74763152:74766250:74766378:74769577:74769613	74766250:74766378	ENST00000469672.1,ENST00000555617.1,ENST00000556119.1	THCA	rs2301345	chr14:74766352	A/G	2.61e-03
exon_skip_114416	14	74763035:74763152:74766250:74766378:74769577:74769613	74766250:74766378	ENST00000469672.1,ENST00000555617.1,ENST00000556119.1	UCEC	rs58272575	chr14:74766360	T/C	2.17e-12
exon_skip_114416	14	74763035:74763152:74766250:74766378:74769577:74769613	74766250:74766378	ENST00000469672.1,ENST00000555617.1,ENST00000556119.1	UCEC	rs2301345	chr14:74766352	A/G	6.45e-06

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Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for ABCD4

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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for ABCD4

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RelatedDrugs for ABCD4

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 ABCD4

Diseases associated with this gene.
(DisGeNet 4.0)

Gene	Disease ID	Disease name	# pubmeds	Source
ABCD4	C0009404	Colorectal Neoplasms	1	CTD_human
ABCD4	C0025521	Inborn Errors of Metabolism	1	CTD_human
ABCD4	C0042847	Vitamin B 12 Deficiency	1	CTD_human
ABCD4	C3553915	METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblJ TYPE	1	ORPHANET;UNIPROT

	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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