ExonSkipDB: functional annotation of exon skipping event in human

Gene summary for SCFD1

Gene summary

Gene information	Gene symbol	SCFD1
	Gene ID	23256
	Gene name	sec1 family domain containing 1
	Synonyms	C14orf163\|RA410\|SLY1\|SLY1P\|STXBP1L2
	Cytomap	14q12
	Type of gene	protein-coding
	Description	sec1 family domain-containing protein 1syntaxin-binding protein 1-like 2vesicle transport-related protein
	Modification date	20180519
	UniProtAcc	Q8WVM8
	Context	PubMed: SCFD1 [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 SCFD1 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 SCFD1

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 SCFD1

Information of exkip skipping event in TCGA.

Exon skip ID	chr	Exons involved in exon skipping	Skipped exon	ENSG	ENSTs
exon_skip_105846	14	31091534:31091605:31097414:31097485:31099682:31099771	31097414:31097485	ENSG00000092108.16	ENST00000556768.1,ENST00000311943.7,ENST00000541123.1,ENST00000555259.1
exon_skip_105847	14	31091534:31091605:31097414:31097485:31103152:31103243	31097414:31097485	ENSG00000092108.16	ENST00000463622.2,ENST00000421551.3
exon_skip_105848	14	31091534:31091605:31099682:31099771:31103152:31103243	31099682:31099771	ENSG00000092108.16	ENST00000484733.2,ENST00000544052.2
exon_skip_105851	14	31091537:31091668:31097414:31097485:31099682:31099771	31097414:31097485	ENSG00000092108.16	ENST00000557713.1,ENST00000557076.1
exon_skip_105857	14	31097414:31097485:31099682:31099771:31103152:31103243	31099682:31099771	ENSG00000092108.16	ENST00000557713.1,ENST00000458591.2,ENST00000554776.1,ENST00000557076.1,ENST00000311943.7,ENST00000541123.1
exon_skip_105860	14	31099682:31099771:31103152:31103243:31107330:31107379	31103152:31103243	ENSG00000092108.16	ENST00000458591.2,ENST00000544052.2,ENST00000557076.1,ENST00000311943.7,ENST00000541123.1
exon_skip_105865	14	31103152:31103243:31104000:31104240:31107330:31107379	31104000:31104240	ENSG00000092108.16	ENST00000484733.2
exon_skip_105867	14	31103152:31103243:31104127:31104240:31107330:31107379	31104127:31104240	ENSG00000092108.16	ENST00000557713.1
exon_skip_105868	14	31103152:31103243:31107330:31107453:31112521:31112611	31107330:31107453	ENSG00000092108.16	ENST00000311943.7,ENST00000541123.1
exon_skip_105869	14	31107402:31107453:31108982:31109070:31112521:31112611	31108982:31109070	ENSG00000092108.16	ENST00000484733.2,ENST00000556534.1,ENST00000463622.2,ENST00000458591.2,ENST00000421551.3,ENST00000544052.2,ENST00000396629.2,ENST00000557076.1,ENST00000553693.1
exon_skip_105870	14	31108982:31109070:31112521:31112611:31118733:31118789	31112521:31112611	ENSG00000092108.16	ENST00000484733.2,ENST00000556534.1,ENST00000463622.2,ENST00000458591.2,ENST00000469043.1,ENST00000421551.3,ENST00000544052.2,ENST00000396629.2,ENST00000557076.1,ENST00000553693.1
exon_skip_105871	14	31112521:31112611:31113085:31113224:31118733:31118789	31113085:31113224	ENSG00000092108.16	ENST00000555259.1
exon_skip_105873	14	31143129:31143203:31144189:31144271:31163978:31164064	31144189:31144271	ENSG00000092108.16	ENST00000554819.1,ENST00000484733.2,ENST00000556768.1,ENST00000463622.2,ENST00000458591.2,ENST00000421551.3,ENST00000544052.2,ENST00000396629.2,ENST00000311943.7,ENST00000541123.1,ENST00000555259.1
exon_skip_105878	14	31169396:31169464:31171501:31171581:31175028:31175091	31171501:31171581	ENSG00000092108.16	ENST00000484733.2,ENST00000556768.1,ENST00000554486.1,ENST00000463622.2,ENST00000458591.2,ENST00000421551.3,ENST00000544052.2,ENST00000396629.2,ENST00000311943.7,ENST00000541123.1,ENST00000555259.1
exon_skip_105884	14	31175029:31175091:31177022:31177082:31177195:31177271	31177022:31177082	ENSG00000092108.16	ENST00000554437.1
exon_skip_105888	14	31175029:31175091:31177195:31177271:31185129:31185176	31177195:31177271	ENSG00000092108.16	ENST00000484733.2,ENST00000556768.1,ENST00000463622.2,ENST00000458591.2,ENST00000421551.3,ENST00000544052.2,ENST00000396629.2,ENST00000311943.7,ENST00000541123.1
exon_skip_105890	14	31177195:31177271:31185129:31185183:31188530:31188583	31185129:31185183	ENSG00000092108.16	ENST00000484733.2,ENST00000556768.1,ENST00000463622.2,ENST00000458591.2,ENST00000554437.1,ENST00000421551.3,ENST00000544052.2,ENST00000396629.2,ENST00000311943.7,ENST00000541123.1
exon_skip_105899	14	31191089:31191123:31191699:31191765:31203995:31204064	31191699:31191765	ENSG00000092108.16	ENST00000556486.1,ENST00000484733.2,ENST00000556768.1,ENST00000556256.1,ENST00000463622.2,ENST00000458591.2,ENST00000554437.1,ENST00000421551.3,ENST00000544052.2,ENST00000396629.2,ENST00000311943.7,ENST00000541123.1

PSI values of skipped exons in TCGA.

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Exon skipping events with PSIs in GTEx for SCFD1

Information of exkip skipping event in GTEx

Exon skip ID	chr	Exons involved in exon skipping	Skipped exon	ENSG	ENSTs
exon_skip_105846	14	31091534:31091605:31097414:31097485:31099682:31099771	31097414:31097485	ENSG00000092108.16	ENST00000555259.1,ENST00000556768.1,ENST00000311943.7,ENST00000541123.1
exon_skip_105847	14	31091534:31091605:31097414:31097485:31103152:31103243	31097414:31097485	ENSG00000092108.16	ENST00000463622.2,ENST00000421551.3
exon_skip_105848	14	31091534:31091605:31099682:31099771:31103152:31103243	31099682:31099771	ENSG00000092108.16	ENST00000544052.2,ENST00000484733.2
exon_skip_105851	14	31091537:31091668:31097414:31097485:31099682:31099771	31097414:31097485	ENSG00000092108.16	ENST00000557713.1,ENST00000557076.1
exon_skip_105857	14	31097414:31097485:31099682:31099771:31103152:31103243	31099682:31099771	ENSG00000092108.16	ENST00000458591.2,ENST00000557713.1,ENST00000311943.7,ENST00000541123.1,ENST00000557076.1,ENST00000554776.1
exon_skip_105860	14	31099682:31099771:31103152:31103243:31107330:31107379	31103152:31103243	ENSG00000092108.16	ENST00000458591.2,ENST00000544052.2,ENST00000311943.7,ENST00000541123.1,ENST00000557076.1
exon_skip_105861	14	31099682:31099771:31103152:31103243:31112521:31112611	31103152:31103243	ENSG00000092108.16	ENST00000554776.1
exon_skip_105864	14	31099682:31099771:31108982:31109070:31112521:31112611	31108982:31109070	ENSG00000092108.16	ENST00000555259.1
exon_skip_105865	14	31103152:31103243:31104000:31104240:31107330:31107379	31104000:31104240	ENSG00000092108.16	ENST00000484733.2
exon_skip_105867	14	31103152:31103243:31104127:31104240:31107330:31107379	31104127:31104240	ENSG00000092108.16	ENST00000557713.1
exon_skip_105868	14	31103152:31103243:31107330:31107453:31112521:31112611	31107330:31107453	ENSG00000092108.16	ENST00000311943.7,ENST00000541123.1
exon_skip_105869	14	31107402:31107453:31108982:31109070:31112521:31112611	31108982:31109070	ENSG00000092108.16	ENST00000458591.2,ENST00000463622.2,ENST00000544052.2,ENST00000484733.2,ENST00000421551.3,ENST00000557076.1,ENST00000553693.1,ENST00000396629.2,ENST00000556534.1
exon_skip_105870	14	31108982:31109070:31112521:31112611:31118733:31118789	31112521:31112611	ENSG00000092108.16	ENST00000458591.2,ENST00000463622.2,ENST00000544052.2,ENST00000484733.2,ENST00000421551.3,ENST00000557076.1,ENST00000553693.1,ENST00000396629.2,ENST00000556534.1,ENST00000469043.1
exon_skip_105871	14	31112521:31112611:31113085:31113224:31118733:31118789	31113085:31113224	ENSG00000092108.16	ENST00000555259.1
exon_skip_105873	14	31143129:31143203:31144189:31144271:31163978:31164064	31144189:31144271	ENSG00000092108.16	ENST00000458591.2,ENST00000555259.1,ENST00000463622.2,ENST00000544052.2,ENST00000556768.1,ENST00000484733.2,ENST00000421551.3,ENST00000311943.7,ENST00000541123.1,ENST00000396629.2,ENST00000554819.1
exon_skip_105878	14	31169396:31169464:31171501:31171581:31175028:31175091	31171501:31171581	ENSG00000092108.16	ENST00000458591.2,ENST00000555259.1,ENST00000463622.2,ENST00000544052.2,ENST00000556768.1,ENST00000484733.2,ENST00000421551.3,ENST00000311943.7,ENST00000541123.1,ENST00000396629.2,ENST00000554486.1
exon_skip_105884	14	31175029:31175091:31177022:31177082:31177195:31177271	31177022:31177082	ENSG00000092108.16	ENST00000554437.1
exon_skip_105888	14	31175029:31175091:31177195:31177271:31185129:31185176	31177195:31177271	ENSG00000092108.16	ENST00000458591.2,ENST00000463622.2,ENST00000544052.2,ENST00000556768.1,ENST00000484733.2,ENST00000421551.3,ENST00000311943.7,ENST00000541123.1,ENST00000396629.2
exon_skip_105890	14	31177195:31177271:31185129:31185183:31188530:31188583	31185129:31185183	ENSG00000092108.16	ENST00000458591.2,ENST00000463622.2,ENST00000544052.2,ENST00000556768.1,ENST00000484733.2,ENST00000421551.3,ENST00000311943.7,ENST00000541123.1,ENST00000396629.2,ENST00000554437.1
exon_skip_105899	14	31191089:31191123:31191699:31191765:31203995:31204064	31191699:31191765	ENSG00000092108.16	ENST00000458591.2,ENST00000463622.2,ENST00000544052.2,ENST00000556768.1,ENST00000484733.2,ENST00000421551.3,ENST00000311943.7,ENST00000541123.1,ENST00000396629.2,ENST00000554437.1,ENST00000556486.1,ENST00000556256.1

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 SCFD1

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
ENST00000458591	31099682	31099771	Frame-shift
ENST00000458591	31103152	31103243	Frame-shift
ENST00000458591	31108982	31109070	Frame-shift
ENST00000458591	31144189	31144271	Frame-shift
ENST00000458591	31171501	31171581	Frame-shift
ENST00000458591	31177195	31177271	Frame-shift
ENST00000458591	31112521	31112611	In-frame
ENST00000458591	31185129	31185183	In-frame
ENST00000458591	31191699	31191765	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
ENST00000458591	31099682	31099771	Frame-shift
ENST00000458591	31103152	31103243	Frame-shift
ENST00000458591	31108982	31109070	Frame-shift
ENST00000458591	31144189	31144271	Frame-shift
ENST00000458591	31171501	31171581	Frame-shift
ENST00000458591	31177195	31177271	Frame-shift
ENST00000458591	31112521	31112611	In-frame
ENST00000458591	31185129	31185183	In-frame
ENST00000458591	31191699	31191765	In-frame

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Infer the effects of exon skipping event on protein functional features for SCFD1

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
ENST00000458591	2376	642	31112521	31112611	751	840	174	204
ENST00000458591	2376	642	31185129	31185183	1857	1910	543	561
ENST00000458591	2376	642	31191699	31191765	1998	2063	590	612

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
ENST00000458591	2376	642	31112521	31112611	751	840	174	204
ENST00000458591	2376	642	31185129	31185183	1857	1910	543	561
ENST00000458591	2376	642	31191699	31191765	1998	2063	590	612

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 SCFD1

- Lollipop plot for presenting exon skipping associated SNVs.
* Click on the image to enlarge it in a new window.

- Differential PSIs between mutated versus non-mutated samples.

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

Cancer type	Sample	ESID	Skipped exon start	Skipped exon end	Mutation start	Mutation end	Mutation type	Reference seq	Mutation seq	AAchange
HNSC	TCGA-BB-7870-01	exon_skip_105870	31112522	31112611	31112596	31112596	Frame_Shift_Del	T	-	p.F201fs
LIHC	TCGA-G3-A3CJ-01	exon_skip_105870	31112522	31112611	31112596	31112596	Frame_Shift_Del	T	-	p.F201fs
LIHC	TCGA-G3-A3CJ-01	exon_skip_105873	31144190	31144271	31144212	31144212	Frame_Shift_Del	A	-	p.K396fs
LIHC	TCGA-DD-A3A0-01	exon_skip_105878	31171502	31171581	31171549	31171549	Frame_Shift_Del	C	-	p.N486fs
COAD	TCGA-D5-6540-01	exon_skip_105847 exon_skip_105846 exon_skip_105851	31097415	31097485	31097455	31097456	Frame_Shift_Ins	-	A	p.I34fs
LIHC	TCGA-BD-A3EP-01	exon_skip_105868	31107331	31107453	31107344	31107345	Frame_Shift_Ins	-	ACTAT	p.Q109fs
UCEC	TCGA-BS-A0UF-01	exon_skip_105868	31107331	31107453	31107337	31107337	Nonsense_Mutation	C	T	p.R107*

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

Depth of coverage in three exons	Mutation description
	Sample: TCGA-BS-A0UF-01
	Cancer type: UCEC
	ESID: exon_skip_105868
	Skipped exon start: 31107331
	Skipped exon end: 31107453
	Mutation start: 31107337
	Mutation end: 31107337
	Mutation type: Nonsense_Mutation
	Reference seq: C
	Mutation seq: T
	AAchange: p.R107*
exon_skip_104037_UCEC_TCGA-BS-A0UF-01.png
exon_skip_105868_UCEC_TCGA-BS-A0UF-01.png
exon_skip_105985_UCEC_TCGA-BS-A0UF-01.png
exon_skip_115426_UCEC_TCGA-BS-A0UF-01.png
exon_skip_14705_UCEC_TCGA-BS-A0UF-01.png
exon_skip_147467_UCEC_TCGA-BS-A0UF-01.png
exon_skip_19372_UCEC_TCGA-BS-A0UF-01.png
exon_skip_286379_UCEC_TCGA-BS-A0UF-01.png
exon_skip_294437_UCEC_TCGA-BS-A0UF-01.png
exon_skip_321837_UCEC_TCGA-BS-A0UF-01.png
exon_skip_324767_UCEC_TCGA-BS-A0UF-01.png
exon_skip_345944_UCEC_TCGA-BS-A0UF-01.png
exon_skip_345950_UCEC_TCGA-BS-A0UF-01.png
exon_skip_382354_UCEC_TCGA-BS-A0UF-01.png
exon_skip_389258_UCEC_TCGA-BS-A0UF-01.png
exon_skip_389265_UCEC_TCGA-BS-A0UF-01.png
exon_skip_39691_UCEC_TCGA-BS-A0UF-01.png
exon_skip_40297_UCEC_TCGA-BS-A0UF-01.png
exon_skip_461887_UCEC_TCGA-BS-A0UF-01.png
exon_skip_482464_UCEC_TCGA-BS-A0UF-01.png
exon_skip_59390_UCEC_TCGA-BS-A0UF-01.png
exon_skip_82288_UCEC_TCGA-BS-A0UF-01.png
exon_skip_84605_UCEC_TCGA-BS-A0UF-01.png
exon_skip_95240_UCEC_TCGA-BS-A0UF-01.png
	Sample: TCGA-BD-A3EP-01
	Cancer type: LIHC
	ESID: exon_skip_105868
	Skipped exon start: 31107331
	Skipped exon end: 31107453
	Mutation start: 31107344
	Mutation end: 31107345
	Mutation type: Frame_Shift_Ins
	Reference seq: -
	Mutation seq: ACTAT
	AAchange: p.Q109fs
exon_skip_105868_LIHC_TCGA-BD-A3EP-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
RKO_LARGE_INTESTINE	31144190	31144271	31144212	31144212	Frame_Shift_Del	A	-	p.K396fs
SNUC5_LARGE_INTESTINE	31144190	31144271	31144212	31144212	Frame_Shift_Del	A	-	p.K396fs
EN_ENDOMETRIUM	31103153	31103243	31103163	31103163	Missense_Mutation	T	A	p.S78T
HEC251_ENDOMETRIUM	31103153	31103243	31103233	31103233	Missense_Mutation	G	T	p.R101I
BICR18_UPPER_AERODIGESTIVE_TRACT	31103153	31103243	31103235	31103235	Missense_Mutation	A	C	p.M102L
C2BBE1_LARGE_INTESTINE	31107331	31107453	31107410	31107410	Missense_Mutation	C	G	p.A131G
CACO2_LARGE_INTESTINE	31107331	31107453	31107410	31107410	Missense_Mutation	C	G	p.A131G
SNU1040_LARGE_INTESTINE	31107331	31107453	31107418	31107418	Missense_Mutation	G	C	p.A134P
NCIH747_LARGE_INTESTINE	31108983	31109070	31109058	31109058	Missense_Mutation	G	T	p.V171F
LC1F_LUNG	31112522	31112611	31112549	31112549	Missense_Mutation	C	T	p.T184M
LC1SQSF_LUNG	31112522	31112611	31112549	31112549	Missense_Mutation	C	T	p.T184M
LC1SQ_LUNG	31112522	31112611	31112549	31112549	Missense_Mutation	C	T	p.T184M
639V_URINARY_TRACT	31112522	31112611	31112573	31112573	Missense_Mutation	C	T	p.T192I
NCIH2342_LUNG	31144190	31144271	31144200	31144200	Missense_Mutation	G	A	p.E391K
LS411N_LARGE_INTESTINE	31144190	31144271	31144249	31144249	Missense_Mutation	C	T	p.T407I
CORL88_LUNG	31144190	31144271	31144266	31144266	Missense_Mutation	A	G	p.I413V
HCT116_LARGE_INTESTINE	31171502	31171581	31171526	31171526	Missense_Mutation	G	A	p.A479T
EFE184_ENDOMETRIUM	31177196	31177271	31177219	31177219	Missense_Mutation	C	T	p.T526I
DMS454_LUNG	31177196	31177271	31177252	31177252	Missense_Mutation	A	C	p.N537T
MINO_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	31185130	31185183	31185178	31185178	Missense_Mutation	A	C	p.N560H
WSUNHL_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	31185130	31185183	31185179	31185179	Missense_Mutation	A	C	p.N560T
WSUDLCL2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	31191700	31191765	31191754	31191754	Missense_Mutation	G	T	p.D609Y
HEC251_ENDOMETRIUM	31103153	31103243	31103220	31103220	Nonsense_Mutation	G	T	p.E97*
MCC26_SKIN	31107331	31107453	31107343	31107343	Nonsense_Mutation	C	T	p.Q109*
HCT15_LARGE_INTESTINE	31177196	31177271	31177206	31177206	Nonsense_Mutation	C	T	p.R522*
SKLU1_LUNG	31191700	31191765	31191718	31191718	Nonsense_Mutation	G	T	p.G597*
LS411N_LARGE_INTESTINE	31107331	31107453	31107453	31107453	Splice_Site	G	T	p.K145N

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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for SCFD1

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_105869	14	31107402:31107453:31108982:31109070:31112521:31112611	31108982:31109070	ENST00000484733.2,ENST00000556534.1,ENST00000463622.2,ENST00000458591.2,ENST00000421551.3,ENST00000544052.2,ENST00000396629.2,ENST00000557076.1,ENST00000553693.1	CESC	rs2273521	chr14:31108977	T/C	1.92e-04
exon_skip_105869	14	31107402:31107453:31108982:31109070:31112521:31112611	31108982:31109070	ENST00000484733.2,ENST00000556534.1,ENST00000463622.2,ENST00000458591.2,ENST00000421551.3,ENST00000544052.2,ENST00000396629.2,ENST00000557076.1,ENST00000553693.1	COAD	rs2273521	chr14:31108977	T/C	1.04e-04
exon_skip_105869	14	31107402:31107453:31108982:31109070:31112521:31112611	31108982:31109070	ENST00000484733.2,ENST00000556534.1,ENST00000463622.2,ENST00000458591.2,ENST00000421551.3,ENST00000544052.2,ENST00000396629.2,ENST00000557076.1,ENST00000553693.1	ESCA	rs2273521	chr14:31108977	T/C	8.38e-08
exon_skip_105869	14	31107402:31107453:31108982:31109070:31112521:31112611	31108982:31109070	ENST00000484733.2,ENST00000556534.1,ENST00000463622.2,ENST00000458591.2,ENST00000421551.3,ENST00000544052.2,ENST00000396629.2,ENST00000557076.1,ENST00000553693.1	HNSC	rs2273521	chr14:31108977	T/C	4.28e-07
exon_skip_105869	14	31107402:31107453:31108982:31109070:31112521:31112611	31108982:31109070	ENST00000484733.2,ENST00000556534.1,ENST00000463622.2,ENST00000458591.2,ENST00000421551.3,ENST00000544052.2,ENST00000396629.2,ENST00000557076.1,ENST00000553693.1	BRCA	rs2273521	chr14:31108977	T/C	4.53e-10
exon_skip_105869	14	31107402:31107453:31108982:31109070:31112521:31112611	31108982:31109070	ENST00000484733.2,ENST00000556534.1,ENST00000463622.2,ENST00000458591.2,ENST00000421551.3,ENST00000544052.2,ENST00000396629.2,ENST00000557076.1,ENST00000553693.1	BRCA	rs2273521	chr14:31108977	T/C	2.68e-06
exon_skip_105869	14	31107402:31107453:31108982:31109070:31112521:31112611	31108982:31109070	ENST00000484733.2,ENST00000556534.1,ENST00000463622.2,ENST00000458591.2,ENST00000421551.3,ENST00000544052.2,ENST00000396629.2,ENST00000557076.1,ENST00000553693.1	LGG	rs2273521	chr14:31108977	T/C	2.06e-07
exon_skip_105869	14	31107402:31107453:31108982:31109070:31112521:31112611	31108982:31109070	ENST00000484733.2,ENST00000556534.1,ENST00000463622.2,ENST00000458591.2,ENST00000421551.3,ENST00000544052.2,ENST00000396629.2,ENST00000557076.1,ENST00000553693.1	LGG	rs2273521	chr14:31108977	T/C	3.43e-05
exon_skip_105869	14	31107402:31107453:31108982:31109070:31112521:31112611	31108982:31109070	ENST00000484733.2,ENST00000556534.1,ENST00000463622.2,ENST00000458591.2,ENST00000421551.3,ENST00000544052.2,ENST00000396629.2,ENST00000557076.1,ENST00000553693.1	KIRC	rs2273521	chr14:31108977	T/C	1.11e-05
exon_skip_105869	14	31107402:31107453:31108982:31109070:31112521:31112611	31108982:31109070	ENST00000484733.2,ENST00000556534.1,ENST00000463622.2,ENST00000458591.2,ENST00000421551.3,ENST00000544052.2,ENST00000396629.2,ENST00000557076.1,ENST00000553693.1	LUAD	rs2273521	chr14:31108977	T/C	9.96e-09
exon_skip_105869	14	31107402:31107453:31108982:31109070:31112521:31112611	31108982:31109070	ENST00000484733.2,ENST00000556534.1,ENST00000463622.2,ENST00000458591.2,ENST00000421551.3,ENST00000544052.2,ENST00000396629.2,ENST00000557076.1,ENST00000553693.1	LUAD	rs2273521	chr14:31108977	T/C	5.76e-06
exon_skip_105869	14	31107402:31107453:31108982:31109070:31112521:31112611	31108982:31109070	ENST00000484733.2,ENST00000556534.1,ENST00000463622.2,ENST00000458591.2,ENST00000421551.3,ENST00000544052.2,ENST00000396629.2,ENST00000557076.1,ENST00000553693.1	LUSC	rs2273521	chr14:31108977	T/C	5.25e-12
exon_skip_105869	14	31107402:31107453:31108982:31109070:31112521:31112611	31108982:31109070	ENST00000484733.2,ENST00000556534.1,ENST00000463622.2,ENST00000458591.2,ENST00000421551.3,ENST00000544052.2,ENST00000396629.2,ENST00000557076.1,ENST00000553693.1	LUSC	rs2273521	chr14:31108977	T/C	1.18e-03
exon_skip_105869	14	31107402:31107453:31108982:31109070:31112521:31112611	31108982:31109070	ENST00000484733.2,ENST00000556534.1,ENST00000463622.2,ENST00000458591.2,ENST00000421551.3,ENST00000544052.2,ENST00000396629.2,ENST00000557076.1,ENST00000553693.1	OV	rs2273521	chr14:31108977	T/C	4.59e-06
exon_skip_105869	14	31107402:31107453:31108982:31109070:31112521:31112611	31108982:31109070	ENST00000484733.2,ENST00000556534.1,ENST00000463622.2,ENST00000458591.2,ENST00000421551.3,ENST00000544052.2,ENST00000396629.2,ENST00000557076.1,ENST00000553693.1	OV	rs2273521	chr14:31108977	T/C	5.16e-05
exon_skip_105869	14	31107402:31107453:31108982:31109070:31112521:31112611	31108982:31109070	ENST00000484733.2,ENST00000556534.1,ENST00000463622.2,ENST00000458591.2,ENST00000421551.3,ENST00000544052.2,ENST00000396629.2,ENST00000557076.1,ENST00000553693.1	PCPG	rs2273521	chr14:31108977	T/C	3.60e-04
exon_skip_105869	14	31107402:31107453:31108982:31109070:31112521:31112611	31108982:31109070	ENST00000484733.2,ENST00000556534.1,ENST00000463622.2,ENST00000458591.2,ENST00000421551.3,ENST00000544052.2,ENST00000396629.2,ENST00000557076.1,ENST00000553693.1	PRAD	rs2273521	chr14:31108977	T/C	2.33e-03
exon_skip_105869	14	31107402:31107453:31108982:31109070:31112521:31112611	31108982:31109070	ENST00000484733.2,ENST00000556534.1,ENST00000463622.2,ENST00000458591.2,ENST00000421551.3,ENST00000544052.2,ENST00000396629.2,ENST00000557076.1,ENST00000553693.1	STAD	rs2273521	chr14:31108977	T/C	4.63e-09
exon_skip_105869	14	31107402:31107453:31108982:31109070:31112521:31112611	31108982:31109070	ENST00000484733.2,ENST00000556534.1,ENST00000463622.2,ENST00000458591.2,ENST00000421551.3,ENST00000544052.2,ENST00000396629.2,ENST00000557076.1,ENST00000553693.1	STAD	rs2273521	chr14:31108977	T/C	3.95e-05
exon_skip_105869	14	31107402:31107453:31108982:31109070:31112521:31112611	31108982:31109070	ENST00000484733.2,ENST00000556534.1,ENST00000463622.2,ENST00000458591.2,ENST00000421551.3,ENST00000544052.2,ENST00000396629.2,ENST00000557076.1,ENST00000553693.1	THCA	rs2273521	chr14:31108977	T/C	3.19e-07
exon_skip_105869	14	31107402:31107453:31108982:31109070:31112521:31112611	31108982:31109070	ENST00000484733.2,ENST00000556534.1,ENST00000463622.2,ENST00000458591.2,ENST00000421551.3,ENST00000544052.2,ENST00000396629.2,ENST00000557076.1,ENST00000553693.1	THCA	rs2273521	chr14:31108977	T/C	1.15e-03
exon_skip_105848	14	31091534:31091605:31099682:31099771:31103152:31103243	31099682:31099771	ENST00000484733.2,ENST00000544052.2	GBM	rs229150	chr14:31099738	A/G	3.24e-05
exon_skip_105848	14	31091534:31091605:31099682:31099771:31103152:31103243	31099682:31099771	ENST00000484733.2,ENST00000544052.2	GBM	rs229150	chr14:31099738	A/G	8.72e-04
exon_skip_105848	14	31091534:31091605:31099682:31099771:31103152:31103243	31099682:31099771	ENST00000484733.2,ENST00000544052.2	CESC	rs229150	chr14:31099738	A/G	3.51e-04
exon_skip_105848	14	31091534:31091605:31099682:31099771:31103152:31103243	31099682:31099771	ENST00000484733.2,ENST00000544052.2	BLCA	rs229150	chr14:31099738	A/G	1.03e-04
exon_skip_105848	14	31091534:31091605:31099682:31099771:31103152:31103243	31099682:31099771	ENST00000484733.2,ENST00000544052.2	ESCA	rs229150	chr14:31099738	A/G	6.25e-13
exon_skip_105848	14	31091534:31091605:31099682:31099771:31103152:31103243	31099682:31099771	ENST00000484733.2,ENST00000544052.2	ESCA	rs229150	chr14:31099738	A/G	9.34e-04
exon_skip_105848	14	31091534:31091605:31099682:31099771:31103152:31103243	31099682:31099771	ENST00000484733.2,ENST00000544052.2	HNSC	rs229150	chr14:31099738	A/G	1.18e-08
exon_skip_105848	14	31091534:31091605:31099682:31099771:31103152:31103243	31099682:31099771	ENST00000484733.2,ENST00000544052.2	HNSC	rs229150	chr14:31099738	A/G	2.41e-04
exon_skip_105848	14	31091534:31091605:31099682:31099771:31103152:31103243	31099682:31099771	ENST00000484733.2,ENST00000544052.2	BRCA	rs229150	chr14:31099738	A/G	6.05e-14
exon_skip_105848	14	31091534:31091605:31099682:31099771:31103152:31103243	31099682:31099771	ENST00000484733.2,ENST00000544052.2	BRCA	rs229150	chr14:31099738	A/G	8.58e-08
exon_skip_105848	14	31091534:31091605:31099682:31099771:31103152:31103243	31099682:31099771	ENST00000484733.2,ENST00000544052.2	KIRP	rs229150	chr14:31099738	A/G	4.45e-06
exon_skip_105848	14	31091534:31091605:31099682:31099771:31103152:31103243	31099682:31099771	ENST00000484733.2,ENST00000544052.2	LGG	rs229150	chr14:31099738	A/G	3.78e-08
exon_skip_105848	14	31091534:31091605:31099682:31099771:31103152:31103243	31099682:31099771	ENST00000484733.2,ENST00000544052.2	LGG	rs229150	chr14:31099738	A/G	1.62e-04
exon_skip_105848	14	31091534:31091605:31099682:31099771:31103152:31103243	31099682:31099771	ENST00000484733.2,ENST00000544052.2	KIRC	rs229150	chr14:31099738	A/G	5.62e-07
exon_skip_105848	14	31091534:31091605:31099682:31099771:31103152:31103243	31099682:31099771	ENST00000484733.2,ENST00000544052.2	KIRC	rs229150	chr14:31099738	A/G	5.40e-05
exon_skip_105848	14	31091534:31091605:31099682:31099771:31103152:31103243	31099682:31099771	ENST00000484733.2,ENST00000544052.2	LUSC	rs229150	chr14:31099738	A/G	3.60e-12
exon_skip_105848	14	31091534:31091605:31099682:31099771:31103152:31103243	31099682:31099771	ENST00000484733.2,ENST00000544052.2	LUSC	rs229150	chr14:31099738	A/G	5.21e-05
exon_skip_105848	14	31091534:31091605:31099682:31099771:31103152:31103243	31099682:31099771	ENST00000484733.2,ENST00000544052.2	OV	rs229150	chr14:31099738	A/G	8.79e-15
exon_skip_105848	14	31091534:31091605:31099682:31099771:31103152:31103243	31099682:31099771	ENST00000484733.2,ENST00000544052.2	OV	rs229150	chr14:31099738	A/G	1.22e-06
exon_skip_105848	14	31091534:31091605:31099682:31099771:31103152:31103243	31099682:31099771	ENST00000484733.2,ENST00000544052.2	PCPG	rs229150	chr14:31099738	A/G	3.20e-04
exon_skip_105848	14	31091534:31091605:31099682:31099771:31103152:31103243	31099682:31099771	ENST00000484733.2,ENST00000544052.2	PRAD	rs229150	chr14:31099738	A/G	5.06e-06
exon_skip_105848	14	31091534:31091605:31099682:31099771:31103152:31103243	31099682:31099771	ENST00000484733.2,ENST00000544052.2	PRAD	rs229150	chr14:31099738	A/G	2.70e-03
exon_skip_105848	14	31091534:31091605:31099682:31099771:31103152:31103243	31099682:31099771	ENST00000484733.2,ENST00000544052.2	SARC	rs229150	chr14:31099738	A/G	1.40e-03
exon_skip_105848	14	31091534:31091605:31099682:31099771:31103152:31103243	31099682:31099771	ENST00000484733.2,ENST00000544052.2	STAD	rs229150	chr14:31099738	A/G	2.72e-11
exon_skip_105848	14	31091534:31091605:31099682:31099771:31103152:31103243	31099682:31099771	ENST00000484733.2,ENST00000544052.2	STAD	rs229150	chr14:31099738	A/G	1.41e-07
exon_skip_105848	14	31091534:31091605:31099682:31099771:31103152:31103243	31099682:31099771	ENST00000484733.2,ENST00000544052.2	THCA	rs229150	chr14:31099738	A/G	6.74e-11
exon_skip_105848	14	31091534:31091605:31099682:31099771:31103152:31103243	31099682:31099771	ENST00000484733.2,ENST00000544052.2	THCA	rs229150	chr14:31099738	A/G	6.17e-06
exon_skip_105857	14	31097414:31097485:31099682:31099771:31103152:31103243	31099682:31099771	ENST00000557713.1,ENST00000458591.2,ENST00000554776.1,ENST00000557076.1,ENST00000311943.7,ENST00000541123.1	GBM	rs229150	chr14:31099738	A/G	3.24e-05
exon_skip_105857	14	31097414:31097485:31099682:31099771:31103152:31103243	31099682:31099771	ENST00000557713.1,ENST00000458591.2,ENST00000554776.1,ENST00000557076.1,ENST00000311943.7,ENST00000541123.1	GBM	rs229150	chr14:31099738	A/G	8.72e-04
exon_skip_105857	14	31097414:31097485:31099682:31099771:31103152:31103243	31099682:31099771	ENST00000557713.1,ENST00000458591.2,ENST00000554776.1,ENST00000557076.1,ENST00000311943.7,ENST00000541123.1	CESC	rs229150	chr14:31099738	A/G	3.51e-04
exon_skip_105857	14	31097414:31097485:31099682:31099771:31103152:31103243	31099682:31099771	ENST00000557713.1,ENST00000458591.2,ENST00000554776.1,ENST00000557076.1,ENST00000311943.7,ENST00000541123.1	BLCA	rs229150	chr14:31099738	A/G	1.03e-04
exon_skip_105857	14	31097414:31097485:31099682:31099771:31103152:31103243	31099682:31099771	ENST00000557713.1,ENST00000458591.2,ENST00000554776.1,ENST00000557076.1,ENST00000311943.7,ENST00000541123.1	ESCA	rs229150	chr14:31099738	A/G	6.25e-13
exon_skip_105857	14	31097414:31097485:31099682:31099771:31103152:31103243	31099682:31099771	ENST00000557713.1,ENST00000458591.2,ENST00000554776.1,ENST00000557076.1,ENST00000311943.7,ENST00000541123.1	ESCA	rs229150	chr14:31099738	A/G	9.34e-04
exon_skip_105857	14	31097414:31097485:31099682:31099771:31103152:31103243	31099682:31099771	ENST00000557713.1,ENST00000458591.2,ENST00000554776.1,ENST00000557076.1,ENST00000311943.7,ENST00000541123.1	HNSC	rs229150	chr14:31099738	A/G	1.18e-08
exon_skip_105857	14	31097414:31097485:31099682:31099771:31103152:31103243	31099682:31099771	ENST00000557713.1,ENST00000458591.2,ENST00000554776.1,ENST00000557076.1,ENST00000311943.7,ENST00000541123.1	HNSC	rs229150	chr14:31099738	A/G	2.41e-04
exon_skip_105857	14	31097414:31097485:31099682:31099771:31103152:31103243	31099682:31099771	ENST00000557713.1,ENST00000458591.2,ENST00000554776.1,ENST00000557076.1,ENST00000311943.7,ENST00000541123.1	BRCA	rs229150	chr14:31099738	A/G	6.05e-14
exon_skip_105857	14	31097414:31097485:31099682:31099771:31103152:31103243	31099682:31099771	ENST00000557713.1,ENST00000458591.2,ENST00000554776.1,ENST00000557076.1,ENST00000311943.7,ENST00000541123.1	BRCA	rs229150	chr14:31099738	A/G	8.58e-08
exon_skip_105857	14	31097414:31097485:31099682:31099771:31103152:31103243	31099682:31099771	ENST00000557713.1,ENST00000458591.2,ENST00000554776.1,ENST00000557076.1,ENST00000311943.7,ENST00000541123.1	KIRP	rs229150	chr14:31099738	A/G	4.45e-06
exon_skip_105857	14	31097414:31097485:31099682:31099771:31103152:31103243	31099682:31099771	ENST00000557713.1,ENST00000458591.2,ENST00000554776.1,ENST00000557076.1,ENST00000311943.7,ENST00000541123.1	LGG	rs229150	chr14:31099738	A/G	3.78e-08
exon_skip_105857	14	31097414:31097485:31099682:31099771:31103152:31103243	31099682:31099771	ENST00000557713.1,ENST00000458591.2,ENST00000554776.1,ENST00000557076.1,ENST00000311943.7,ENST00000541123.1	LGG	rs229150	chr14:31099738	A/G	1.62e-04
exon_skip_105857	14	31097414:31097485:31099682:31099771:31103152:31103243	31099682:31099771	ENST00000557713.1,ENST00000458591.2,ENST00000554776.1,ENST00000557076.1,ENST00000311943.7,ENST00000541123.1	KIRC	rs229150	chr14:31099738	A/G	5.62e-07
exon_skip_105857	14	31097414:31097485:31099682:31099771:31103152:31103243	31099682:31099771	ENST00000557713.1,ENST00000458591.2,ENST00000554776.1,ENST00000557076.1,ENST00000311943.7,ENST00000541123.1	KIRC	rs229150	chr14:31099738	A/G	5.40e-05
exon_skip_105857	14	31097414:31097485:31099682:31099771:31103152:31103243	31099682:31099771	ENST00000557713.1,ENST00000458591.2,ENST00000554776.1,ENST00000557076.1,ENST00000311943.7,ENST00000541123.1	LUSC	rs229150	chr14:31099738	A/G	3.60e-12
exon_skip_105857	14	31097414:31097485:31099682:31099771:31103152:31103243	31099682:31099771	ENST00000557713.1,ENST00000458591.2,ENST00000554776.1,ENST00000557076.1,ENST00000311943.7,ENST00000541123.1	LUSC	rs229150	chr14:31099738	A/G	5.21e-05
exon_skip_105857	14	31097414:31097485:31099682:31099771:31103152:31103243	31099682:31099771	ENST00000557713.1,ENST00000458591.2,ENST00000554776.1,ENST00000557076.1,ENST00000311943.7,ENST00000541123.1	OV	rs229150	chr14:31099738	A/G	8.79e-15
exon_skip_105857	14	31097414:31097485:31099682:31099771:31103152:31103243	31099682:31099771	ENST00000557713.1,ENST00000458591.2,ENST00000554776.1,ENST00000557076.1,ENST00000311943.7,ENST00000541123.1	OV	rs229150	chr14:31099738	A/G	1.22e-06
exon_skip_105857	14	31097414:31097485:31099682:31099771:31103152:31103243	31099682:31099771	ENST00000557713.1,ENST00000458591.2,ENST00000554776.1,ENST00000557076.1,ENST00000311943.7,ENST00000541123.1	PCPG	rs229150	chr14:31099738	A/G	3.20e-04
exon_skip_105857	14	31097414:31097485:31099682:31099771:31103152:31103243	31099682:31099771	ENST00000557713.1,ENST00000458591.2,ENST00000554776.1,ENST00000557076.1,ENST00000311943.7,ENST00000541123.1	PRAD	rs229150	chr14:31099738	A/G	5.06e-06
exon_skip_105857	14	31097414:31097485:31099682:31099771:31103152:31103243	31099682:31099771	ENST00000557713.1,ENST00000458591.2,ENST00000554776.1,ENST00000557076.1,ENST00000311943.7,ENST00000541123.1	PRAD	rs229150	chr14:31099738	A/G	2.70e-03
exon_skip_105857	14	31097414:31097485:31099682:31099771:31103152:31103243	31099682:31099771	ENST00000557713.1,ENST00000458591.2,ENST00000554776.1,ENST00000557076.1,ENST00000311943.7,ENST00000541123.1	SARC	rs229150	chr14:31099738	A/G	1.40e-03
exon_skip_105857	14	31097414:31097485:31099682:31099771:31103152:31103243	31099682:31099771	ENST00000557713.1,ENST00000458591.2,ENST00000554776.1,ENST00000557076.1,ENST00000311943.7,ENST00000541123.1	STAD	rs229150	chr14:31099738	A/G	2.72e-11
exon_skip_105857	14	31097414:31097485:31099682:31099771:31103152:31103243	31099682:31099771	ENST00000557713.1,ENST00000458591.2,ENST00000554776.1,ENST00000557076.1,ENST00000311943.7,ENST00000541123.1	STAD	rs229150	chr14:31099738	A/G	1.41e-07
exon_skip_105857	14	31097414:31097485:31099682:31099771:31103152:31103243	31099682:31099771	ENST00000557713.1,ENST00000458591.2,ENST00000554776.1,ENST00000557076.1,ENST00000311943.7,ENST00000541123.1	THCA	rs229150	chr14:31099738	A/G	6.74e-11
exon_skip_105857	14	31097414:31097485:31099682:31099771:31103152:31103243	31099682:31099771	ENST00000557713.1,ENST00000458591.2,ENST00000554776.1,ENST00000557076.1,ENST00000311943.7,ENST00000541123.1	THCA	rs229150	chr14:31099738	A/G	6.17e-06

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Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for SCFD1

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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for SCFD1

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RelatedDrugs for SCFD1

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 SCFD1

Diseases associated with this gene.
(DisGeNet 4.0)

Gene	Disease ID	Disease name	# pubmeds	Source
SCFD1	C0002736	Amyotrophic Lateral Sclerosis	1	CTD_human

	Gene summary
	Gene structures and expression levels
	Exon skipping events with PSIs in TCGA
	Exon skipping events with PSIs in GTEx
	Open reading frame (ORF) annotation in the exon skipping event
	Exon skipping events in the canonical protein sequence
	SNVs in the skipped exons with depth of coverage
	Splicing Quantitative Trait Loci (sQTLs) in the skipped exons
	Splicing Quantitative Trait Methylation (sQTM) in the skipped exon
	Related drugs with this gene
	Related diseases with this gene

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