ExonSkipDB: functional annotation of exon skipping event in human

Gene summary for FXR1

Gene summary

Gene information	Gene symbol	FXR1
	Gene ID	8087
	Gene name	FMR1 autosomal homolog 1
	Synonyms	FXR1P
	Cytomap	3q26.33
	Type of gene	protein-coding
	Description	fragile X mental retardation syndrome-related protein 1FXR1/MYC fusionfragile X mental retardation autosomal homolog variant p1Kfragile X mental retardation autosomal homolog variant p2Kfragile X mental retardation autosomal homolog variant p4Kfragil
	Modification date	20180523
	UniProtAcc	P51114
	Context	PubMed: FXR1 [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
FXR1	GO:2000637	positive regulation of gene silencing by miRNA	17057366

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Exon skipping events across known transcript of Ensembl for FXR1 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 FXR1

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 FXR1

Information of exkip skipping event in TCGA.

Exon skip ID	chr	Exons involved in exon skipping	Skipped exon	ENSG	ENSTs
exon_skip_379720	3	180630472:180630524:180632439:180632783:180651121:180651174	180632439:180632783	ENSG00000114416.13	ENST00000305586.7
exon_skip_379721	3	180630472:180630524:180632439:180632783:180665652:180665724	180632439:180632783	ENSG00000114416.13	ENST00000484958.1
exon_skip_379726	3	180630472:180630524:180651121:180651174:180652925:180652984	180651121:180651174	ENSG00000114416.13	ENST00000357559.4,ENST00000445140.2,ENST00000472339.1,ENST00000479176.1
exon_skip_379727	3	180630472:180630524:180651121:180651174:180665652:180665724	180651121:180651174	ENSG00000114416.13	ENST00000475315.1
exon_skip_379728	3	180630472:180630524:180652925:180653019:180665652:180665724	180652925:180653019	ENSG00000114416.13	ENST00000468861.1
exon_skip_379734	3	180651121:180651174:180652925:180653019:180665652:180665724	180652925:180653019	ENSG00000114416.13	ENST00000484042.1,ENST00000357559.4,ENST00000484790.1,ENST00000445140.2,ENST00000465551.1,ENST00000472339.1,ENST00000480918.1,ENST00000479176.1,ENST00000305586.7
exon_skip_379735	3	180666134:180666283:180666508:180666602:180667014:180667038	180666508:180666602	ENSG00000114416.13	ENST00000357559.4,ENST00000491062.1,ENST00000445140.2,ENST00000468861.1,ENST00000465551.1,ENST00000472339.1,ENST00000480918.1,ENST00000469882.1,ENST00000475315.1,ENST00000484958.1,ENST00000305586.7
exon_skip_379736	3	180667014:180667131:180669085:180669256:180671549:180671628	180669085:180669256	ENSG00000114416.13	ENST00000357559.4,ENST00000491062.1,ENST00000445140.2,ENST00000468861.1,ENST00000472339.1,ENST00000480918.1,ENST00000475315.1,ENST00000305586.7
exon_skip_379737	3	180669117:180669256:180671549:180671628:180675606:180675716	180671549:180671628	ENSG00000114416.13	ENST00000357559.4,ENST00000491062.1,ENST00000445140.2,ENST00000468861.1,ENST00000472339.1,ENST00000480918.1,ENST00000475315.1,ENST00000305586.7
exon_skip_379744	3	180685916:180686042:180687945:180688146:180693100:180693192	180687945:180688146	ENSG00000114416.13	ENST00000357559.4,ENST00000480918.1,ENST00000475315.1,ENST00000305586.7
exon_skip_379745	3	180685916:180686042:180687945:180688146:180693909:180694070	180687945:180688146	ENSG00000114416.13	ENST00000491062.1,ENST00000445140.2,ENST00000468861.1,ENST00000472339.1
exon_skip_379754	3	180688054:180688146:180688862:180688943:180693100:180693192	180688862:180688943	ENSG00000114416.13	ENST00000482125.1
exon_skip_379758	3	180688054:180688146:180693100:180693192:180693909:180694070	180693100:180693192	ENSG00000114416.13	ENST00000357559.4,ENST00000480918.1,ENST00000475315.1,ENST00000305586.7
exon_skip_379760	3	180688862:180688943:180693100:180693192:180693909:180694070	180693100:180693192	ENSG00000114416.13	ENST00000482125.1

PSI values of skipped exons in TCGA.

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Exon skipping events with PSIs in GTEx for FXR1

Information of exkip skipping event in GTEx

Exon skip ID	chr	Exons involved in exon skipping	Skipped exon	ENSG	ENSTs
exon_skip_379720	3	180630472:180630524:180632439:180632783:180651121:180651174	180632439:180632783	ENSG00000114416.13	ENST00000305586.7
exon_skip_379721	3	180630472:180630524:180632439:180632783:180665652:180665724	180632439:180632783	ENSG00000114416.13	ENST00000484958.1
exon_skip_379726	3	180630472:180630524:180651121:180651174:180652925:180652984	180651121:180651174	ENSG00000114416.13	ENST00000357559.4,ENST00000479176.1,ENST00000445140.2,ENST00000472339.1
exon_skip_379727	3	180630472:180630524:180651121:180651174:180665652:180665724	180651121:180651174	ENSG00000114416.13	ENST00000475315.1
exon_skip_379728	3	180630472:180630524:180652925:180653019:180665652:180665724	180652925:180653019	ENSG00000114416.13	ENST00000468861.1
exon_skip_379734	3	180651121:180651174:180652925:180653019:180665652:180665724	180652925:180653019	ENSG00000114416.13	ENST00000484790.1,ENST00000465551.1,ENST00000357559.4,ENST00000305586.7,ENST00000479176.1,ENST00000445140.2,ENST00000472339.1,ENST00000480918.1,ENST00000484042.1
exon_skip_379735	3	180666134:180666283:180666508:180666602:180667014:180667038	180666508:180666602	ENSG00000114416.13	ENST00000469882.1,ENST00000465551.1,ENST00000357559.4,ENST00000305586.7,ENST00000475315.1,ENST00000491062.1,ENST00000468861.1,ENST00000445140.2,ENST00000472339.1,ENST00000484958.1,ENST00000480918.1
exon_skip_379736	3	180667014:180667131:180669085:180669256:180671549:180671628	180669085:180669256	ENSG00000114416.13	ENST00000357559.4,ENST00000305586.7,ENST00000475315.1,ENST00000491062.1,ENST00000468861.1,ENST00000445140.2,ENST00000472339.1,ENST00000480918.1
exon_skip_379737	3	180669117:180669256:180671549:180671628:180675606:180675716	180671549:180671628	ENSG00000114416.13	ENST00000357559.4,ENST00000305586.7,ENST00000475315.1,ENST00000491062.1,ENST00000468861.1,ENST00000445140.2,ENST00000472339.1,ENST00000480918.1
exon_skip_379744	3	180685916:180686042:180687945:180688146:180693100:180693192	180687945:180688146	ENSG00000114416.13	ENST00000357559.4,ENST00000305586.7,ENST00000475315.1,ENST00000480918.1
exon_skip_379745	3	180685916:180686042:180687945:180688146:180693909:180694070	180687945:180688146	ENSG00000114416.13	ENST00000491062.1,ENST00000468861.1,ENST00000445140.2,ENST00000472339.1
exon_skip_379754	3	180688054:180688146:180688862:180688943:180693100:180693192	180688862:180688943	ENSG00000114416.13	ENST00000482125.1
exon_skip_379758	3	180688054:180688146:180693100:180693192:180693909:180694070	180693100:180693192	ENSG00000114416.13	ENST00000357559.4,ENST00000305586.7,ENST00000475315.1,ENST00000480918.1
exon_skip_379760	3	180688862:180688943:180693100:180693192:180693909:180694070	180693100:180693192	ENSG00000114416.13	ENST00000482125.1

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 FXR1

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
ENST00000357559	180651121	180651174	Frame-shift
ENST00000357559	180652925	180653019	Frame-shift
ENST00000357559	180666508	180666602	Frame-shift
ENST00000357559	180671549	180671628	Frame-shift
ENST00000357559	180693100	180693192	Frame-shift
ENST00000357559	180669085	180669256	In-frame
ENST00000357559	180687945	180688146	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
ENST00000357559	180651121	180651174	Frame-shift
ENST00000357559	180652925	180653019	Frame-shift
ENST00000357559	180666508	180666602	Frame-shift
ENST00000357559	180671549	180671628	Frame-shift
ENST00000357559	180693100	180693192	Frame-shift
ENST00000357559	180669085	180669256	In-frame
ENST00000357559	180687945	180688146	In-frame

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Infer the effects of exon skipping event on protein functional features for FXR1

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
ENST00000357559	8728	621	180669085	180669256	1015	1185	210	267
ENST00000357559	8728	621	180687945	180688146	1787	1987	467	534

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
ENST00000357559	8728	621	180669085	180669256	1015	1185	210	267
ENST00000357559	8728	621	180687945	180688146	1787	1987	467	534

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
P51114	210	267	213	216	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2CPQ
P51114	210	267	218	224	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2CPQ
P51114	210	267	250	256	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2CPQ
P51114	210	267	261	268	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2CPQ
P51114	210	267	2	621	Chain	ID=PRO_0000050106;Note=Fragile X mental retardation syndrome-related protein 1
P51114	210	267	222	251	Domain	Note=KH 1;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00117
P51114	210	267	227	234	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2CPQ
P51114	210	267	239	245	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2CPQ
P51114	210	267	233	233	Natural variant	ID=VAR_036050;Note=In a breast cancer sample%3B somatic mutation. A->T;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:16959974;Dbxref=PMID:16959974
P51114	210	267	257	260	Turn	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2CPQ
P51114	467	534	2	621	Chain	ID=PRO_0000050106;Note=Fragile X mental retardation syndrome-related protein 1
P51114	467	534	502	510	Compositional bias	Note=Poly-Arg
P51114	467	534	483	483	Modified residue	Note=Phosphothreonine;Ontology_term=ECO:0000250;evidence=ECO:0000250\|UniProtKB:Q61584
P51114	467	534	485	485	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244\|PubMed:21406692;Dbxref=PMID:21406692
P51114	467	534	524	524	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250\|UniProtKB:P51116

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
P51114	210	267	213	216	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2CPQ
P51114	210	267	218	224	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2CPQ
P51114	210	267	250	256	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2CPQ
P51114	210	267	261	268	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2CPQ
P51114	210	267	2	621	Chain	ID=PRO_0000050106;Note=Fragile X mental retardation syndrome-related protein 1
P51114	210	267	222	251	Domain	Note=KH 1;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00117
P51114	210	267	227	234	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2CPQ
P51114	210	267	239	245	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2CPQ
P51114	210	267	233	233	Natural variant	ID=VAR_036050;Note=In a breast cancer sample%3B somatic mutation. A->T;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:16959974;Dbxref=PMID:16959974
P51114	210	267	257	260	Turn	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2CPQ
P51114	467	534	2	621	Chain	ID=PRO_0000050106;Note=Fragile X mental retardation syndrome-related protein 1
P51114	467	534	502	510	Compositional bias	Note=Poly-Arg
P51114	467	534	483	483	Modified residue	Note=Phosphothreonine;Ontology_term=ECO:0000250;evidence=ECO:0000250\|UniProtKB:Q61584
P51114	467	534	485	485	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244\|PubMed:21406692;Dbxref=PMID:21406692
P51114	467	534	524	524	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250\|UniProtKB:P51116

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SNVs in the skipped exons for FXR1

- 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
LIHC	TCGA-G3-A3CJ-01	exon_skip_379727 exon_skip_379726	180651122	180651174	180651162	180651162	Frame_Shift_Del	T	-	p.V31fs
GBM	TCGA-14-1043-01	exon_skip_379727 exon_skip_379726	180651122	180651174	180651171	180651172	Frame_Shift_Del	AT	-	p.N34fs
LIHC	TCGA-DD-A39Y-01	exon_skip_379734 exon_skip_379728	180652926	180653019	180652951	180652951	Frame_Shift_Del	T	-	p.F44fs
LIHC	TCGA-DD-A39Y-01	exon_skip_379734 exon_skip_379728	180652926	180653019	180652986	180652986	Frame_Shift_Del	A	-	p.I55fs
LIHC	TCGA-G3-A3CJ-01	exon_skip_379734 exon_skip_379728	180652926	180653019	180652986	180652986	Frame_Shift_Del	A	-	p.I55fs
LIHC	TCGA-DD-A39Y-01	exon_skip_379735	180666509	180666602	180666565	180666565	Frame_Shift_Del	T	-	p.I159fs
LIHC	TCGA-DD-A3A0-01	exon_skip_379735	180666509	180666602	180666565	180666565	Frame_Shift_Del	T	-	p.I159fs
LIHC	TCGA-DD-A39Y-01	exon_skip_379737	180671550	180671628	180671564	180671564	Frame_Shift_Del	A	-	p.V272fs
LUAD	TCGA-55-8506-01	exon_skip_379737	180671550	180671628	180671564	180671564	Frame_Shift_Del	A	-	p.V272fs
LIHC	TCGA-DD-A3A0-01	exon_skip_379737	180671550	180671628	180671579	180671579	Frame_Shift_Del	T	-	p.G277fs
LIHC	TCGA-DD-A1EG-01	exon_skip_379737	180671550	180671628	180671587	180671587	Frame_Shift_Del	A	-	p.E280fs
LIHC	TCGA-DD-A39Y-01	exon_skip_379760 exon_skip_379758	180693101	180693192	180693164	180693164	Frame_Shift_Del	A	-	p.E556fs
READ	TCGA-G5-6233-01	exon_skip_379760 exon_skip_379758	180693101	180693192	180693163	180693163	Nonsense_Mutation	G	T	p.E471X
LUSC	TCGA-39-5031-01	exon_skip_379737	180671550	180671628	180671549	180671549	Splice_Site	G	A	p.S268_splice

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

Depth of coverage in three exons	Mutation description
	Sample: TCGA-G5-6233-01
	Cancer type: READ
	ESID: exon_skip_379758
	Skipped exon start: 180693101
	Skipped exon end: 180693192
	Mutation start: 180693163
	Mutation end: 180693163
	Mutation type: Nonsense_Mutation
	Reference seq: G
	Mutation seq: T
	AAchange: p.E471X
exon_skip_286384_READ_TCGA-G5-6233-01.png
exon_skip_379758_READ_TCGA-G5-6233-01.png
exon_skip_462170_READ_TCGA-G5-6233-01.png
	Sample: TCGA-DD-A39Y-01
	Cancer type: LIHC
	ESID: exon_skip_379728
	Skipped exon start: 180652926
	Skipped exon end: 180653019
	Mutation start: 180652951
	Mutation end: 180652951
	Mutation type: Frame_Shift_Del
	Reference seq: T
	Mutation seq: -
	AAchange: p.F44fs
	Sample: TCGA-DD-A39Y-01
	Cancer type: LIHC
	ESID: exon_skip_379728
	Skipped exon start: 180652926
	Skipped exon end: 180653019
	Mutation start: 180652986
	Mutation end: 180652986
	Mutation type: Frame_Shift_Del
	Reference seq: A
	Mutation seq: -
	AAchange: p.I55fs
	Sample: TCGA-DD-A39Y-01
	Cancer type: LIHC
	ESID: exon_skip_379735
	Skipped exon start: 180666509
	Skipped exon end: 180666602
	Mutation start: 180666565
	Mutation end: 180666565
	Mutation type: Frame_Shift_Del
	Reference seq: T
	Mutation seq: -
	AAchange: p.I159fs
	Sample: TCGA-DD-A39Y-01
	Cancer type: LIHC
	ESID: exon_skip_379737
	Skipped exon start: 180671550
	Skipped exon end: 180671628
	Mutation start: 180671564
	Mutation end: 180671564
	Mutation type: Frame_Shift_Del
	Reference seq: A
	Mutation seq: -
	AAchange: p.V272fs
	Sample: TCGA-DD-A39Y-01
	Cancer type: LIHC
	ESID: exon_skip_379758
	Skipped exon start: 180693101
	Skipped exon end: 180693192
	Mutation start: 180693164
	Mutation end: 180693164
	Mutation type: Frame_Shift_Del
	Reference seq: A
	Mutation seq: -
	AAchange: p.E556fs
exon_skip_105023_LIHC_TCGA-DD-A39Y-01.png
exon_skip_101824_LIHC_TCGA-DD-A39Y-01.png
exon_skip_106032_LIHC_TCGA-DD-A39Y-01.png
exon_skip_106378_LIHC_TCGA-DD-A39Y-01.png
exon_skip_106523_LIHC_TCGA-DD-A39Y-01.png
exon_skip_106524_LIHC_TCGA-DD-A39Y-01.png
exon_skip_109527_LIHC_TCGA-DD-A39Y-01.png
exon_skip_109529_LIHC_TCGA-DD-A39Y-01.png
exon_skip_110000_LIHC_TCGA-DD-A39Y-01.png
exon_skip_11029_LIHC_TCGA-DD-A39Y-01.png
exon_skip_111893_LIHC_TCGA-DD-A39Y-01.png
exon_skip_111894_LIHC_TCGA-DD-A39Y-01.png
exon_skip_112042_LIHC_TCGA-DD-A39Y-01.png
exon_skip_112647_LIHC_TCGA-DD-A39Y-01.png
exon_skip_114045_LIHC_TCGA-DD-A39Y-01.png
exon_skip_114046_LIHC_TCGA-DD-A39Y-01.png
exon_skip_114565_LIHC_TCGA-DD-A39Y-01.png
exon_skip_11916_LIHC_TCGA-DD-A39Y-01.png
exon_skip_1234_LIHC_TCGA-DD-A39Y-01.png
exon_skip_1237_LIHC_TCGA-DD-A39Y-01.png
exon_skip_124639_LIHC_TCGA-DD-A39Y-01.png
exon_skip_124693_LIHC_TCGA-DD-A39Y-01.png
exon_skip_124695_LIHC_TCGA-DD-A39Y-01.png
exon_skip_130535_LIHC_TCGA-DD-A39Y-01.png
exon_skip_13071_LIHC_TCGA-DD-A39Y-01.png
exon_skip_131505_LIHC_TCGA-DD-A39Y-01.png
exon_skip_133556_LIHC_TCGA-DD-A39Y-01.png
exon_skip_135211_LIHC_TCGA-DD-A39Y-01.png
exon_skip_135545_LIHC_TCGA-DD-A39Y-01.png
exon_skip_135553_LIHC_TCGA-DD-A39Y-01.png
exon_skip_135763_LIHC_TCGA-DD-A39Y-01.png
exon_skip_137564_LIHC_TCGA-DD-A39Y-01.png
exon_skip_138947_LIHC_TCGA-DD-A39Y-01.png
exon_skip_139222_LIHC_TCGA-DD-A39Y-01.png
exon_skip_141370_LIHC_TCGA-DD-A39Y-01.png
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- 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
SNGM_ENDOMETRIUM	180652926	180653019	180652986	180652986	Frame_Shift_Del	A	-	p.I55fs
RKO_LARGE_INTESTINE	180652926	180653019	180652986	180652986	Frame_Shift_Del	A	-	p.I55fs
HEC151_ENDOMETRIUM	180671550	180671628	180671564	180671564	Frame_Shift_Del	A	-	p.V272fs
NCIH1836_LUNG	180652926	180653019	180652960	180652960	Missense_Mutation	G	T	p.V47F
HEC251_ENDOMETRIUM	180666509	180666602	180666533	180666533	Missense_Mutation	A	C	p.K148N
HCC2157_BREAST	180669086	180669256	180669152	180669152	Missense_Mutation	G	A	p.A233T
NCIH446_LUNG	180671550	180671628	180671574	180671574	Missense_Mutation	A	G	p.R276G
HCT15_LARGE_INTESTINE	180687946	180688146	180687954	180687954	Missense_Mutation	G	T	p.D471Y
EN_ENDOMETRIUM	180687946	180688146	180688040	180688040	Missense_Mutation	T	G	p.S499R
SARC9371_BONE	180687946	180688146	180688047	180688047	Missense_Mutation	C	T	p.R502C
LU99_LUNG	180687946	180688146	180688050	180688050	Missense_Mutation	C	T	p.R503C
639V_URINARY_TRACT	180687946	180688146	180688057	180688057	Missense_Mutation	G	A	p.R505Q
JURKAT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	180687946	180688146	180688069	180688069	Missense_Mutation	G	A	p.R509Q
BICR18_UPPER_AERODIGESTIVE_TRACT	180687946	180688146	180688104	180688104	Missense_Mutation	A	C	p.M521L
DAUDI_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	180687946	180688146	180688104	180688104	Missense_Mutation	A	C	p.M521L
JURKAT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	180693101	180693192	180693140	180693140	Missense_Mutation	G	A	p.S548N
HT115_LARGE_INTESTINE	180693101	180693192	180693151	180693151	Missense_Mutation	A	C	p.N552H
SCC90_UPPER_AERODIGESTIVE_TRACT	180693101	180693192	180693173	180693173	Missense_Mutation	C	G	p.A559G
HGC27_STOMACH	180693101	180693192	180693188	180693188	Missense_Mutation	A	T	p.E564V
2313287_STOMACH	180693101	180693192	180693163	180693163	Nonsense_Mutation	G	T	p.E556*
MZ7MEL_SKIN	180687946	180688146	180687947	180687947	Splice_Site	G	A	p.V468V

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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for FXR1

sQTL information located at the skipped exons.

Exon skip ID

Chromosome

Three exons

Skippped exon

ENST

Cancer type

SNP id

Location

DNA change (ref/var)

P-value

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Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for FXR1

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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for FXR1

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RelatedDrugs for FXR1

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 FXR1

Diseases associated with this gene.
(DisGeNet 4.0)

Gene

Disease ID

Disease name

# pubmeds

Source

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

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