ExonSkipAD: functional annotation of exon skipping event in human

Gene summary for RIF1

Gene summary

Gene information	Gene symbol	RIF1
	Gene ID	55183
	Gene name	replication timing regulatory factor 1
	Synonyms	-
	Cytomap	2q23.3
	Type of gene	protein-coding
	Description	telomere-associated protein RIF1RAP1 interacting factor homolograp1-interacting factor 1 homolog
	Modification date	20200322
	UniProtAcc	H7BZN3, H7C2B5, Q5UIP0, Q9Y581,
	Context

Gene ontology of each this gene with evidence of Inferred from Direct Assay (IDA) from Entrez

Gene	GO ID	GO term	PubMed ID
RIF1	GO:0006974	cellular response to DNA damage stimulus	28241136
RIF1	GO:0043247	telomere maintenance in response to DNA damage	15583028
RIF1	GO:2000042	negative regulation of double-strand break repair via homologous recombination	23333306
RIF1	GO:2001034	positive regulation of double-strand break repair via nonhomologous end joining	28241136

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Gene structures and expression levels for RIF1

Skipped exons in the ROSMAP, MSBB, and Mayo 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.

ENSG00000080345

Differentially expressed gene analysis across multiple brain tissues between AD and control.

Tissue type

DEG direction

Base mean exp.

log2FC(AD/control)

P-value

Adj. p-value

Differentially expressed isoform analysis across multiple brain tissues between AD and control.

Tissue type	DEG direction	ENST	Transcript info.	Base mean exp.	log2FC(AD/control)	P-value	Adjc. p-value
CB	UP	ENST00000243326.9	RIF1-201:protein_coding:RIF1	1.346527e+03	8.061998e-01	1.324901e-12	1.865583e-10
CB	UP	ENST00000428287.6	RIF1-203:protein_coding:RIF1	5.208574e+01	2.170194e+00	1.423378e-09	5.825094e-08
CB	DOWN	ENST00000494675.5	LRIF1-203:protein_coding:LRIF1	1.221259e+01	-1.168047e+00	5.843737e-03	2.238776e-02
TC	UP	ENST00000428287.6	RIF1-203:protein_coding:RIF1	2.968399e+01	1.236724e+00	4.658843e-04	5.439707e-03

Landscape of isoform expressions across multiple brain tissues between AD and control.

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Exon skipping events with PSIs in ROSMAP, MSBB, and Mayo for RIF1

Landscape of individual exon skipping event across AD tissues and controls (PSI heatmap).

All exon skipping events in AD cohorts.

Exon skip ID	chr	Exons involved in exon skipping	Skipped exon
exon_skip_109310	chr2	151468022:151468146:151468474:151468551:151468641:151468756	151468474:151468551
exon_skip_120552	chr2	151456578:151456620:151457761:151457963:151458811:151458910	151457761:151457963
exon_skip_141772	chr2	151420225:151420379:151422950:151423042:151428784:151428922	151422950:151423042
exon_skip_159053	chr2	151411260:151411338:151414823:151414919:151416561:151416688	151414823:151414919
exon_skip_159953	chr2	151454895:151455159:151456578:151456620:151457761:151457963	151456578:151456620
exon_skip_172958	chr2	151440027:151440127:151441905:151441991:151443259:151443329	151441905:151441991
exon_skip_188282	chr2	151416561:151416688:151416807:151416901:151420190:151420379	151416807:151416901
exon_skip_193839	chr2	151433077:151433228:151435463:151435580:151436827:151437003	151435463:151435580
exon_skip_206216	chr2	151468000:151468146:151468474:151468551:151468641:151468756	151468474:151468551
exon_skip_210678	chr2	151443529:151443709:151445338:151445445:151446426:151446575	151445338:151445445
exon_skip_235589	chr2	151409956:151410033:151410414:151410527:151411260:151411338	151410414:151410527
exon_skip_239650	chr2	151469711:151469864:151473964:151474072:151474857:151475219	151473964:151474072
exon_skip_244492	chr2	151483199:151483335:151495229:151495326:151499345:151499540	151495229:151495326
exon_skip_258918	chr2	151499345:151499540:151503034:151503185:151506210:151506375	151503034:151503185
exon_skip_28030	chr2	151458811:151458910:151460000:151460119:151461138:151461289	151460000:151460119
exon_skip_66686	chr2	151409900:151409939:151410414:151410527:151411260:151411338	151410414:151410527
exon_skip_98096	chr2	151435463:151435580:151436827:151437003:151437241:151437351	151436827:151437003

Differentially expressed PSI values of individual exon skipping events in multiple brain tissues between AD and control.

Exon skipping information	Tissue type	Avg(PSIs) in AD	Avg(PSIs) in control	Difference (PSI)	Adj. p-value
exon_skip_81596	MSBB_PG	6.674242e-02	1.728302e-01	-1.060878e-01	9.228484e-05
exon_skip_109310	Mayo_CB	6.778750e-01	7.983871e-01	-1.205121e-01	4.469211e-07
exon_skip_81596	Mayo_CB	1.503659e-01	2.619403e-01	-1.115744e-01	6.415868e-07
exon_skip_109310	Mayo_TC	6.425610e-01	7.645455e-01	-1.219845e-01	7.906715e-07

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Open reading frame (ORF) annotation in the exon skipping event for RIF1

Open reading frame (ORF) of individual exon skipping events in ROSMAP based on the Ensembl gene structure combined from isoforms.

ENST	Start of skipped exon	End of skipped exon	ORF
ENST00000243326	151416807	151416901	Frame-shift
ENST00000444746	151416807	151416901	Frame-shift
ENST00000243326	151435463	151435580	Frame-shift
ENST00000444746	151435463	151435580	Frame-shift
ENST00000243326	151456578	151456620	Frame-shift
ENST00000444746	151456578	151456620	Frame-shift
ENST00000243326	151473964	151474072	Frame-shift
ENST00000444746	151473964	151474072	Frame-shift
ENST00000243326	151422950	151423042	In-frame
ENST00000444746	151422950	151423042	In-frame
ENST00000243326	151436827	151437003	In-frame
ENST00000444746	151436827	151437003	In-frame
ENST00000243326	151441905	151441991	In-frame
ENST00000444746	151441905	151441991	In-frame
ENST00000243326	151460000	151460119	In-frame
ENST00000444746	151460000	151460119	In-frame
ENST00000243326	151468474	151468551	In-frame
ENST00000444746	151468474	151468551	In-frame

Open reading frame (ORF) of individual exon skipping events in MSBB based on the Ensembl gene structure combined from isoforms.

ENST	Start of skipped exon	End of skipped exon	ORF
ENST00000243326	151414823	151414919	Frame-shift
ENST00000444746	151414823	151414919	Frame-shift
ENST00000243326	151456578	151456620	Frame-shift
ENST00000444746	151456578	151456620	Frame-shift
ENST00000243326	151422950	151423042	In-frame
ENST00000444746	151422950	151423042	In-frame
ENST00000243326	151441905	151441991	In-frame
ENST00000444746	151441905	151441991	In-frame
ENST00000243326	151460000	151460119	In-frame
ENST00000444746	151460000	151460119	In-frame
ENST00000243326	151468474	151468551	In-frame
ENST00000444746	151468474	151468551	In-frame

Open reading frame (ORF) of individual exon skipping events in Mayo based on the Ensembl gene structure combined from isoforms.

ENST	Start of skipped exon	End of skipped exon	ORF
ENST00000444746	151410414	151410527	5CDS-5UTR
ENST00000243326	151414823	151414919	Frame-shift
ENST00000444746	151414823	151414919	Frame-shift
ENST00000243326	151416807	151416901	Frame-shift
ENST00000444746	151416807	151416901	Frame-shift
ENST00000243326	151435463	151435580	Frame-shift
ENST00000444746	151435463	151435580	Frame-shift
ENST00000243326	151456578	151456620	Frame-shift
ENST00000444746	151456578	151456620	Frame-shift
ENST00000243326	151457761	151457963	Frame-shift
ENST00000444746	151457761	151457963	Frame-shift
ENST00000243326	151473964	151474072	Frame-shift
ENST00000444746	151473964	151474072	Frame-shift
ENST00000243326	151422950	151423042	In-frame
ENST00000444746	151422950	151423042	In-frame
ENST00000243326	151441905	151441991	In-frame
ENST00000444746	151441905	151441991	In-frame
ENST00000243326	151445338	151445445	In-frame
ENST00000444746	151445338	151445445	In-frame
ENST00000243326	151460000	151460119	In-frame
ENST00000444746	151460000	151460119	In-frame
ENST00000243326	151468474	151468551	In-frame
ENST00000444746	151468474	151468551	In-frame

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Infer the effects of exon skipping event on protein functional features for RIF1

p-ENSG00000080345_img4.png
boxplot

Loci of skipped exons in ROSMAP 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
ENST00000243326	15020	2472	151422950	151423042	1178	1269	231	262
ENST00000444746	7914	2472	151422950	151423042	856	947	231	262
ENST00000243326	15020	2472	151436827	151437003	1680	1855	399	457
ENST00000444746	7914	2472	151436827	151437003	1358	1533	399	457
ENST00000243326	15020	2472	151441905	151441991	2132	2217	549	578
ENST00000444746	7914	2472	151441905	151441991	1810	1895	549	578
ENST00000243326	15020	2472	151460000	151460119	3440	3558	985	1025
ENST00000444746	7914	2472	151460000	151460119	3118	3236	985	1025
ENST00000243326	15020	2472	151468474	151468551	7232	7308	2249	2275
ENST00000444746	7914	2472	151468474	151468551	6910	6986	2249	2275

Loci of skipped exons in MSBB 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
ENST00000243326	15020	2472	151422950	151423042	1178	1269	231	262
ENST00000444746	7914	2472	151422950	151423042	856	947	231	262
ENST00000243326	15020	2472	151441905	151441991	2132	2217	549	578
ENST00000444746	7914	2472	151441905	151441991	1810	1895	549	578
ENST00000243326	15020	2472	151460000	151460119	3440	3558	985	1025
ENST00000444746	7914	2472	151460000	151460119	3118	3236	985	1025
ENST00000243326	15020	2472	151468474	151468551	7232	7308	2249	2275
ENST00000444746	7914	2472	151468474	151468551	6910	6986	2249	2275

Loci of skipped exons in Mayo 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
ENST00000243326	15020	2472	151422950	151423042	1178	1269	231	262
ENST00000444746	7914	2472	151422950	151423042	856	947	231	262
ENST00000243326	15020	2472	151441905	151441991	2132	2217	549	578
ENST00000444746	7914	2472	151441905	151441991	1810	1895	549	578
ENST00000243326	15020	2472	151445338	151445445	2471	2577	662	698
ENST00000444746	7914	2472	151445338	151445445	2149	2255	662	698
ENST00000243326	15020	2472	151460000	151460119	3440	3558	985	1025
ENST00000444746	7914	2472	151460000	151460119	3118	3236	985	1025
ENST00000243326	15020	2472	151468474	151468551	7232	7308	2249	2275
ENST00000444746	7914	2472	151468474	151468551	6910	6986	2249	2275

Lost protein functional features of individual exon skipping events in ROSMAP.

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
Q5UIP0	231	262	1	2472	Chain	ID=PRO_0000097333;Note=Telomere-associated protein RIF1
Q5UIP0	231	262	1	2472	Chain	ID=PRO_0000097333;Note=Telomere-associated protein RIF1
Q5UIP0	399	457	1	2472	Chain	ID=PRO_0000097333;Note=Telomere-associated protein RIF1
Q5UIP0	399	457	1	2472	Chain	ID=PRO_0000097333;Note=Telomere-associated protein RIF1
Q5UIP0	399	457	402	402	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000244;evidence=ECO:0000244\|PubMed:18669648,ECO:0000244\|PubMed:23186163;Dbxref=PMID:18669648,PMID:23186163
Q5UIP0	399	457	402	402	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000244;evidence=ECO:0000244\|PubMed:18669648,ECO:0000244\|PubMed:23186163;Dbxref=PMID:18669648,PMID:23186163
Q5UIP0	399	457	409	409	Modified residue	Note=Phosphothreonine;Ontology_term=ECO:0000244,ECO:0000244;evidence=ECO:0000244\|PubMed:16964243,ECO:0000244\|PubMed:18669648;Dbxref=PMID:16964243,PMID:18669648
Q5UIP0	399	457	409	409	Modified residue	Note=Phosphothreonine;Ontology_term=ECO:0000244,ECO:0000244;evidence=ECO:0000244\|PubMed:16964243,ECO:0000244\|PubMed:18669648;Dbxref=PMID:16964243,PMID:18669648
Q5UIP0	549	578	1	2472	Chain	ID=PRO_0000097333;Note=Telomere-associated protein RIF1
Q5UIP0	549	578	1	2472	Chain	ID=PRO_0000097333;Note=Telomere-associated protein RIF1
Q5UIP0	985	1025	1	2472	Chain	ID=PRO_0000097333;Note=Telomere-associated protein RIF1
Q5UIP0	985	1025	1	2472	Chain	ID=PRO_0000097333;Note=Telomere-associated protein RIF1
Q5UIP0	985	1025	1008	1008	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244\|PubMed:23186163;Dbxref=PMID:23186163
Q5UIP0	985	1025	1008	1008	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244\|PubMed:23186163;Dbxref=PMID:23186163
Q5UIP0	2249	2275	2250	2275	Alternative sequence	ID=VSP_014431;Note=In isoform 2. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303\|PubMed:15583028,ECO:0000303\|PubMed:9110174;Dbxref=PMID:15583028,PMID:9110174
Q5UIP0	2249	2275	2250	2275	Alternative sequence	ID=VSP_014431;Note=In isoform 2. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303\|PubMed:15583028,ECO:0000303\|PubMed:9110174;Dbxref=PMID:15583028,PMID:9110174
Q5UIP0	2249	2275	1	2472	Chain	ID=PRO_0000097333;Note=Telomere-associated protein RIF1
Q5UIP0	2249	2275	1	2472	Chain	ID=PRO_0000097333;Note=Telomere-associated protein RIF1
Q5UIP0	2249	2275	2260	2260	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244\|PubMed:18669648;Dbxref=PMID:18669648
Q5UIP0	2249	2275	2260	2260	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244\|PubMed:18669648;Dbxref=PMID:18669648
Q5UIP0	2249	2275	1924	2472	Region	Note=Interaction with condensed chromosomes in telophase
Q5UIP0	2249	2275	1924	2472	Region	Note=Interaction with condensed chromosomes in telophase

Lost protein functional features of individual exon skipping events in MSBB.

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
Q5UIP0	231	262	1	2472	Chain	ID=PRO_0000097333;Note=Telomere-associated protein RIF1
Q5UIP0	231	262	1	2472	Chain	ID=PRO_0000097333;Note=Telomere-associated protein RIF1
Q5UIP0	549	578	1	2472	Chain	ID=PRO_0000097333;Note=Telomere-associated protein RIF1
Q5UIP0	549	578	1	2472	Chain	ID=PRO_0000097333;Note=Telomere-associated protein RIF1
Q5UIP0	985	1025	1	2472	Chain	ID=PRO_0000097333;Note=Telomere-associated protein RIF1
Q5UIP0	985	1025	1	2472	Chain	ID=PRO_0000097333;Note=Telomere-associated protein RIF1
Q5UIP0	985	1025	1008	1008	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244\|PubMed:23186163;Dbxref=PMID:23186163
Q5UIP0	985	1025	1008	1008	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244\|PubMed:23186163;Dbxref=PMID:23186163
Q5UIP0	2249	2275	2250	2275	Alternative sequence	ID=VSP_014431;Note=In isoform 2. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303\|PubMed:15583028,ECO:0000303\|PubMed:9110174;Dbxref=PMID:15583028,PMID:9110174
Q5UIP0	2249	2275	2250	2275	Alternative sequence	ID=VSP_014431;Note=In isoform 2. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303\|PubMed:15583028,ECO:0000303\|PubMed:9110174;Dbxref=PMID:15583028,PMID:9110174
Q5UIP0	2249	2275	1	2472	Chain	ID=PRO_0000097333;Note=Telomere-associated protein RIF1
Q5UIP0	2249	2275	1	2472	Chain	ID=PRO_0000097333;Note=Telomere-associated protein RIF1
Q5UIP0	2249	2275	2260	2260	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244\|PubMed:18669648;Dbxref=PMID:18669648
Q5UIP0	2249	2275	2260	2260	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244\|PubMed:18669648;Dbxref=PMID:18669648
Q5UIP0	2249	2275	1924	2472	Region	Note=Interaction with condensed chromosomes in telophase
Q5UIP0	2249	2275	1924	2472	Region	Note=Interaction with condensed chromosomes in telophase

Lost protein functional features of individual exon skipping events in Mayo.

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
Q5UIP0	231	262	1	2472	Chain	ID=PRO_0000097333;Note=Telomere-associated protein RIF1
Q5UIP0	231	262	1	2472	Chain	ID=PRO_0000097333;Note=Telomere-associated protein RIF1
Q5UIP0	549	578	1	2472	Chain	ID=PRO_0000097333;Note=Telomere-associated protein RIF1
Q5UIP0	549	578	1	2472	Chain	ID=PRO_0000097333;Note=Telomere-associated protein RIF1
Q5UIP0	662	698	1	2472	Chain	ID=PRO_0000097333;Note=Telomere-associated protein RIF1
Q5UIP0	662	698	1	2472	Chain	ID=PRO_0000097333;Note=Telomere-associated protein RIF1
Q5UIP0	985	1025	1	2472	Chain	ID=PRO_0000097333;Note=Telomere-associated protein RIF1
Q5UIP0	985	1025	1	2472	Chain	ID=PRO_0000097333;Note=Telomere-associated protein RIF1
Q5UIP0	985	1025	1008	1008	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244\|PubMed:23186163;Dbxref=PMID:23186163
Q5UIP0	985	1025	1008	1008	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244\|PubMed:23186163;Dbxref=PMID:23186163
Q5UIP0	2249	2275	2250	2275	Alternative sequence	ID=VSP_014431;Note=In isoform 2. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303\|PubMed:15583028,ECO:0000303\|PubMed:9110174;Dbxref=PMID:15583028,PMID:9110174
Q5UIP0	2249	2275	2250	2275	Alternative sequence	ID=VSP_014431;Note=In isoform 2. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303\|PubMed:15583028,ECO:0000303\|PubMed:9110174;Dbxref=PMID:15583028,PMID:9110174
Q5UIP0	2249	2275	1	2472	Chain	ID=PRO_0000097333;Note=Telomere-associated protein RIF1
Q5UIP0	2249	2275	1	2472	Chain	ID=PRO_0000097333;Note=Telomere-associated protein RIF1
Q5UIP0	2249	2275	2260	2260	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244\|PubMed:18669648;Dbxref=PMID:18669648
Q5UIP0	2249	2275	2260	2260	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244\|PubMed:18669648;Dbxref=PMID:18669648
Q5UIP0	2249	2275	1924	2472	Region	Note=Interaction with condensed chromosomes in telophase
Q5UIP0	2249	2275	1924	2472	Region	Note=Interaction with condensed chromosomes in telophase

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3'-UTR located exon skipping events that lost miRNA binding sites in RIF1

3'-UTR exon skipping evnets lost miRNA binding.

Tissue type

ENST

Exon skip start

Exon skip end

microRNA

Binding site by TargetScan

Binding type by TargetScan

Bdinding site by miRanda

Score of miRanda

Energy by miRanda

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SNVs in the skipped exons for RIF1

- Differential PSIs between mutated versus non-mutated samples.

- Depth of Coverage in the skipped exon of the mutated samples.

- Sashimi plot in the skipped exon of the mutated samples.

- Non-synonymous mutations located in the skipped exons.

Cancer type

Sample

ESID

Skipped exon start

Skipped exon end

Mutation start

Mutation end

Mutation type

Reference seq

Mutation seq

AAchange

- 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

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AD stage-associated exon skippint events for RIF1

Associated exon skipping events with Braak staging or Clinical Dementia Rating (CDR).

AD stage info

Cohort

Tissue

SE id

Coefficient

P-value

Chromosome

Strand

E1 start

E1 end

Skipped start

Skipped end

E2 start

E2 end

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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for RIF1

sQTL information located at the skipped exons.

Tissue type	Exon skip ID	SNP id	Location	P-value	FDR
TC	exon_skip_172958	rs1046668	chr2:151370056	3.286897e-04	4.200616e-02
TC	exon_skip_172958	rs3845844	chr2:151374780	3.286897e-04	4.200616e-02

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Correlation with RNA binding proteins (RBPs) for RIF1

Correlated RBP and related information.

Tissue type	RBP name	Exon skip ID	Correlation coeifficient	P-value
CB	SAMD4A	exon_skip_172958	-4.723428e-01	1.456271e-07
CB	HNRNPDL	exon_skip_172958	5.512589e-01	3.004908e-10
CB	RBM45	exon_skip_172958	6.758402e-01	2.954341e-16
CB	NUP42	exon_skip_172958	4.309008e-01	2.109231e-06
CB	UNK	exon_skip_159953	4.679762e-01	4.242188e-08
CB	RC3H1	exon_skip_159953	-4.093733e-01	2.346880e-06
CB	CNOT4	exon_skip_28030	-5.441413e-01	7.775058e-11
CB	TIA1	exon_skip_28030	4.206881e-01	1.267503e-06
CB	TRA2A	exon_skip_28030	-4.589939e-01	9.320711e-08
CB	HNRNPC	exon_skip_28030	-4.959852e-01	5.430927e-09
CB	NUP42	exon_skip_28030	5.144930e-01	1.148024e-09
CB	PABPC4	exon_skip_28030	4.074815e-01	2.901075e-06
CB	RBM6	exon_skip_109310	-4.790603e-01	1.629727e-09
CB	TIA1	exon_skip_109310	5.575889e-01	5.685511e-13
CB	TRA2A	exon_skip_109310	-5.313256e-01	1.025636e-11
CB	HNRNPDL	exon_skip_109310	4.773853e-01	1.891013e-09
CB	NUP42	exon_skip_109310	7.015532e-01	2.392266e-22
FL	ELAVL4	exon_skip_109310	4.495221e-01	2.182657e-10
HCC	DAZAP1	exon_skip_141772	4.175414e-01	7.697479e-12
HCC	RBMS2	exon_skip_141772	4.368523e-01	6.217836e-13
HCC	RBM5	exon_skip_141772	4.470502e-01	1.541771e-13
HCC	RBM47	exon_skip_141772	4.391618e-01	4.552520e-13
HCC	FUBP1	exon_skip_141772	4.156073e-01	9.817611e-12
HCC	RBM6	exon_skip_206216	-4.843166e-01	3.162102e-17
HCC	KHDRBS2	exon_skip_206216	4.366163e-01	6.010893e-14
IFG	DAZAP1	exon_skip_141772	4.165561e-01	2.745142e-02
IFG	RBMS3	exon_skip_141772	4.250797e-01	2.413813e-02
IFG	TIA1	exon_skip_141772	4.294202e-01	2.258068e-02
IFG	RBM5	exon_skip_141772	4.621353e-01	1.329097e-02
IFG	RBM45	exon_skip_141772	4.310899e-01	2.200391e-02
PCC	ELAVL4	exon_skip_109310	4.023721e-01	4.593732e-09
PCC	HNRNPD	exon_skip_109310	4.248993e-01	4.870537e-10
PCC	RALYL	exon_skip_109310	4.250456e-01	4.797432e-10
PG	ELAVL4	exon_skip_206216	4.715615e-01	3.949104e-11
PG	KHDRBS2	exon_skip_206216	4.357875e-01	1.493363e-09
PG	RALYL	exon_skip_206216	4.660378e-01	7.115114e-11
PG	CELF1	exon_skip_206216	4.027953e-01	2.987127e-08
STG	EIF4B	exon_skip_141772	-4.153888e-01	1.273499e-04
STG	ELAVL4	exon_skip_206216	4.389145e-01	3.313967e-05
STG	KHDRBS3	exon_skip_206216	4.098545e-01	1.191803e-04
STG	NUP42	exon_skip_206216	4.153793e-01	9.427459e-05
STG	RALYL	exon_skip_206216	4.846914e-01	3.429505e-06
TC	ELAVL4	exon_skip_109310	5.206519e-01	1.176539e-11
TC	RBM6	exon_skip_109310	-4.559651e-01	5.758587e-09
TC	KHDRBS2	exon_skip_109310	5.852570e-01	5.640997e-15
TC	KHDRBS3	exon_skip_109310	4.123499e-01	1.913834e-07
TC	HNRNPDL	exon_skip_109310	4.859113e-01	3.843176e-10
TC	HNRNPD	exon_skip_109310	5.320827e-01	3.418573e-12
TC	NUP42	exon_skip_109310	5.033323e-01	7.026363e-11
TC	RALYL	exon_skip_109310	5.426512e-01	1.045549e-12

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RelatedDrugs for RIF1

Approved drugs targeting this gene.
(DrugBank Version 5.1.0 2018-04-02)

UniProtAcc

DrugBank ID

Drug name

Drug activity

Drug type

Drug status

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RelatedDiseases for RIF1

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 RPSMAP, MSBB, and Mayo
	Open reading frame (ORF) annotation in the exon skipping event
	Exon skipping events in the canonical protein sequence
	3'-UTR located exon skipping events lost miRNA binding sites
	SNVs in the skipped exons with depth of coverage
	AD stage-associated exon skipping events
	Splicing Quantitative Trait Loci (sQTLs) in the skipped exons
	Correlation with RNA binding proteins (RBPs)
	Related drugs with this gene
	Related diseases with this gene

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