ExonSkipAD: functional annotation of exon skipping event in human

Gene summary for MFF

Gene summary

Gene information	Gene symbol	MFF
	Gene ID	56947
	Gene name	mitochondrial fission factor
	Synonyms	C2orf33\|EMPF2\|GL004
	Cytomap	2q36.3
	Type of gene	protein-coding
	Description	mitochondrial fission factor
	Modification date	20200327
	UniProtAcc	A0A0A0MS29, C9J846, C9JAF1, C9JHF5, C9JI76, C9JU19, E9PK16, E9PKS0, E9PPR7, E9PPW6, E9PQX8, H7C433, Q9GZY8,
	Context	- 30796962(Effects of treadmill exercise on mitochondrial fusion and fission in the hippocampus of APP/PS1 mice)

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

Gene	GO ID	GO term	PubMed ID
MFF	GO:0090141	positive regulation of mitochondrial fission	23283981\|23530241
MFF	GO:0090314	positive regulation of protein targeting to membrane	23283981

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Gene structures and expression levels for MFF

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.

ENSG00000168958

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	DOWN	ENST00000490857.5	MFF-222:retained_intron:MFF	3.721229e+02	-9.480718e-01	3.582142e-16	2.541487e-13
CB	UP	ENST00000409616.5	MFF-208:protein_coding:MFF	1.001242e+01	3.049707e+00	1.955938e-03	9.056875e-03
CB	UP	ENST00000423098.5	MFF-210:protein_coding:MFF	1.366167e+00	8.797327e-01	3.208072e-03	1.363044e-02

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 MFF

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_107903	chr2	227325365:227325427:227330626:227330846:227332419:227332499	227330626:227330846
exon_skip_10840	chr2	227328687:227328789:227329606:227329659:227330626:227330763	227329606:227329659
exon_skip_131107	chr2	227342745:227342819:227347226:227347384:227352514:227352573	227347226:227347384
exon_skip_139292	chr2	227328678:227328789:227329606:227329659:227330626:227330689	227329606:227329659
exon_skip_144861	chr2	227325365:227325427:227328678:227328789:227330626:227330689	227328678:227328789
exon_skip_154349	chr2	227340292:227340380:227347226:227347384:227355677:227355761	227347226:227347384
exon_skip_177784	chr2	227328687:227328789:227329606:227329697:227330626:227330822	227329606:227329697
exon_skip_18171	chr2	227342745:227342819:227346228:227346315:227347226:227347383	227346228:227346315
exon_skip_208305	chr2	227325365:227325427:227328678:227330846:227332419:227332499	227328678:227330846
exon_skip_213476	chr2	227328687:227328789:227329606:227329659:227330626:227330689	227329606:227329659
exon_skip_218486	chr2	227347343:227347384:227352514:227352573:227355677:227355761	227352514:227352573
exon_skip_219232	chr2	227325365:227325427:227330626:227330846:227332419:227332443	227330626:227330846
exon_skip_225254	chr2	227332419:227332588:227340292:227340380:227347226:227347274	227340292:227340380
exon_skip_227419	chr2	227340292:227340380:227347226:227347384:227352514:227352573	227347226:227347384
exon_skip_2283	chr2	227340292:227340380:227342745:227342819:227355677:227355761	227342745:227342819
exon_skip_237301	chr2	227328678:227328789:227329606:227329659:227330626:227330763	227329606:227329659
exon_skip_242651	chr2	227328678:227328789:227329606:227329783:227330626:227330689	227329606:227329783
exon_skip_245950	chr2	227332558:227332588:227340292:227340380:227355677:227355761	227340292:227340380
exon_skip_252789	chr2	227332419:227332588:227340292:227340380:227355677:227355761	227340292:227340380
exon_skip_273850	chr2	227328678:227328789:227329606:227329697:227330626:227330822	227329606:227329697
exon_skip_295566	chr2	227340292:227340380:227352514:227352573:227355677:227355761	227352514:227352573
exon_skip_61846	chr2	227325365:227325427:227328678:227330846:227332419:227332443	227328678:227330846
exon_skip_72924	chr2	227347226:227347384:227352514:227352573:227355677:227355761	227352514:227352573
exon_skip_88848	chr2	227328687:227328789:227329606:227329783:227330626:227330689	227329606:227329783
exon_skip_90195	chr2	227340292:227340380:227342745:227342819:227347226:227347274	227342745:227342819

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_144861	Mayo_CB	7.131707e-01	6.131169e-01	1.000538e-01	1.359882e-07

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

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
ENST00000353339	227329606	227329783	5CDS-5UTR
ENST00000353339	227342745	227342819	In-frame
ENST00000353339	227347226	227347384	In-frame
ENST00000353339	227352514	227352573	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
ENST00000353339	227329606	227329783	5CDS-5UTR
ENST00000353339	227342745	227342819	In-frame
ENST00000353339	227352514	227352573	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
ENST00000353339	227329606	227329783	5CDS-5UTR
ENST00000353339	227342745	227342819	In-frame
ENST00000353339	227347226	227347384	In-frame
ENST00000353339	227352514	227352573	In-frame

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

p-ENSG00000168958_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
ENST00000353339	2203	342	227342745	227342819	961	1034	173	197
ENST00000353339	2203	342	227347226	227347384	1036	1193	198	250
ENST00000353339	2203	342	227352514	227352573	1195	1253	251	270

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
ENST00000353339	2203	342	227342745	227342819	961	1034	173	197
ENST00000353339	2203	342	227352514	227352573	1195	1253	251	270

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
ENST00000353339	2203	342	227342745	227342819	961	1034	173	197
ENST00000353339	2203	342	227347226	227347384	1036	1193	198	250
ENST00000353339	2203	342	227352514	227352573	1195	1253	251	270

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
Q9GZY8	173	197	174	271	Alternative sequence	ID=VSP_025955;Note=In isoform 4. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|Ref.3
Q9GZY8	173	197	174	251	Alternative sequence	ID=VSP_025956;Note=In isoform 5. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:15489334;Dbxref=PMID:15489334
Q9GZY8	173	197	174	198	Alternative sequence	ID=VSP_025957;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:14702039;Dbxref=PMID:14702039
Q9GZY8	173	197	1	342	Chain	ID=PRO_0000289184;Note=Mitochondrial fission factor
Q9GZY8	173	197	1	322	Topological domain	Note=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q9GZY8	198	250	174	271	Alternative sequence	ID=VSP_025955;Note=In isoform 4. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|Ref.3
Q9GZY8	198	250	174	251	Alternative sequence	ID=VSP_025956;Note=In isoform 5. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:15489334;Dbxref=PMID:15489334
Q9GZY8	198	250	174	198	Alternative sequence	ID=VSP_025957;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:14702039;Dbxref=PMID:14702039
Q9GZY8	198	250	199	271	Alternative sequence	ID=VSP_025958;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:15489334;Dbxref=PMID:15489334
Q9GZY8	198	250	1	342	Chain	ID=PRO_0000289184;Note=Mitochondrial fission factor
Q9GZY8	198	250	200	200	Modified residue	Note=Phosphothreonine;Ontology_term=ECO:0000244;evidence=ECO:0000244\|PubMed:20068231;Dbxref=PMID:20068231
Q9GZY8	198	250	202	202	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244\|PubMed:20068231;Dbxref=PMID:20068231
Q9GZY8	198	250	229	229	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244\|PubMed:20068231;Dbxref=PMID:20068231
Q9GZY8	198	250	233	233	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000244;evidence=ECO:0000244\|PubMed:20068231,ECO:0000244\|PubMed:23186163;Dbxref=PMID:20068231,PMID:23186163
Q9GZY8	198	250	212	212	Sequence conflict	Note=H->Y;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q9GZY8	198	250	1	322	Topological domain	Note=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q9GZY8	251	270	174	271	Alternative sequence	ID=VSP_025955;Note=In isoform 4. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|Ref.3
Q9GZY8	251	270	174	251	Alternative sequence	ID=VSP_025956;Note=In isoform 5. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:15489334;Dbxref=PMID:15489334
Q9GZY8	251	270	199	271	Alternative sequence	ID=VSP_025958;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:15489334;Dbxref=PMID:15489334
Q9GZY8	251	270	1	342	Chain	ID=PRO_0000289184;Note=Mitochondrial fission factor
Q9GZY8	251	270	1	322	Topological domain	Note=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255

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
Q9GZY8	173	197	174	271	Alternative sequence	ID=VSP_025955;Note=In isoform 4. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|Ref.3
Q9GZY8	173	197	174	251	Alternative sequence	ID=VSP_025956;Note=In isoform 5. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:15489334;Dbxref=PMID:15489334
Q9GZY8	173	197	174	198	Alternative sequence	ID=VSP_025957;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:14702039;Dbxref=PMID:14702039
Q9GZY8	173	197	1	342	Chain	ID=PRO_0000289184;Note=Mitochondrial fission factor
Q9GZY8	173	197	1	322	Topological domain	Note=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q9GZY8	251	270	174	271	Alternative sequence	ID=VSP_025955;Note=In isoform 4. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|Ref.3
Q9GZY8	251	270	174	251	Alternative sequence	ID=VSP_025956;Note=In isoform 5. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:15489334;Dbxref=PMID:15489334
Q9GZY8	251	270	199	271	Alternative sequence	ID=VSP_025958;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:15489334;Dbxref=PMID:15489334
Q9GZY8	251	270	1	342	Chain	ID=PRO_0000289184;Note=Mitochondrial fission factor
Q9GZY8	251	270	1	322	Topological domain	Note=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255

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
Q9GZY8	173	197	174	271	Alternative sequence	ID=VSP_025955;Note=In isoform 4. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|Ref.3
Q9GZY8	173	197	174	251	Alternative sequence	ID=VSP_025956;Note=In isoform 5. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:15489334;Dbxref=PMID:15489334
Q9GZY8	173	197	174	198	Alternative sequence	ID=VSP_025957;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:14702039;Dbxref=PMID:14702039
Q9GZY8	173	197	1	342	Chain	ID=PRO_0000289184;Note=Mitochondrial fission factor
Q9GZY8	173	197	1	322	Topological domain	Note=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q9GZY8	198	250	174	271	Alternative sequence	ID=VSP_025955;Note=In isoform 4. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|Ref.3
Q9GZY8	198	250	174	251	Alternative sequence	ID=VSP_025956;Note=In isoform 5. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:15489334;Dbxref=PMID:15489334
Q9GZY8	198	250	174	198	Alternative sequence	ID=VSP_025957;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:14702039;Dbxref=PMID:14702039
Q9GZY8	198	250	199	271	Alternative sequence	ID=VSP_025958;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:15489334;Dbxref=PMID:15489334
Q9GZY8	198	250	1	342	Chain	ID=PRO_0000289184;Note=Mitochondrial fission factor
Q9GZY8	198	250	200	200	Modified residue	Note=Phosphothreonine;Ontology_term=ECO:0000244;evidence=ECO:0000244\|PubMed:20068231;Dbxref=PMID:20068231
Q9GZY8	198	250	202	202	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244\|PubMed:20068231;Dbxref=PMID:20068231
Q9GZY8	198	250	229	229	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244\|PubMed:20068231;Dbxref=PMID:20068231
Q9GZY8	198	250	233	233	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000244;evidence=ECO:0000244\|PubMed:20068231,ECO:0000244\|PubMed:23186163;Dbxref=PMID:20068231,PMID:23186163
Q9GZY8	198	250	212	212	Sequence conflict	Note=H->Y;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q9GZY8	198	250	1	322	Topological domain	Note=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q9GZY8	251	270	174	271	Alternative sequence	ID=VSP_025955;Note=In isoform 4. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|Ref.3
Q9GZY8	251	270	174	251	Alternative sequence	ID=VSP_025956;Note=In isoform 5. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:15489334;Dbxref=PMID:15489334
Q9GZY8	251	270	199	271	Alternative sequence	ID=VSP_025958;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:15489334;Dbxref=PMID:15489334
Q9GZY8	251	270	1	342	Chain	ID=PRO_0000289184;Note=Mitochondrial fission factor
Q9GZY8	251	270	1	322	Topological domain	Note=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255

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

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 MFF

- 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 MFF

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 MFF

sQTL information located at the skipped exons.

Tissue type	Exon skip ID	SNP id	Location	P-value	FDR
DLPFC	exon_skip_227419	rs6707977	chr2:227285890	1.153983e-05	1.280829e-03
DLPFC	exon_skip_90195	rs6436674	chr2:227291888	8.617037e-04	4.944746e-02
DLPFC	exon_skip_90195	rs10188531	chr2:227313109	8.617037e-04	4.944746e-02

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Correlation with RNA binding proteins (RBPs) for MFF

Correlated RBP and related information.

Tissue type	RBP name	Exon skip ID	Correlation coeifficient	P-value
CB	SRSF2	exon_skip_144861	4.127490e-01	6.426274e-08
CB	ELAVL1	exon_skip_144861	4.179345e-01	4.221011e-08
CB	SRSF11	exon_skip_144861	5.305575e-01	6.335272e-13
CB	RBM5	exon_skip_144861	4.580927e-01	1.267210e-09
CB	FXR2	exon_skip_144861	4.984081e-01	2.302941e-11
CB	RC3H1	exon_skip_144861	4.044091e-01	1.244930e-07
CB	HNRNPDL	exon_skip_144861	4.271297e-01	1.968117e-08
CB	HNRNPAB	exon_skip_144861	4.844167e-01	9.821435e-11
CB	SRSF1	exon_skip_144861	4.007492e-01	1.654709e-07
CB	SRSF4	exon_skip_144861	4.937588e-01	3.756360e-11
CB	SRSF9	exon_skip_144861	5.149166e-01	3.814128e-12
CB	HNRNPH2	exon_skip_144861	4.549729e-01	1.691768e-09
CB	EIF4B	exon_skip_144861	4.915349e-01	4.734521e-11
CB	HNRNPF	exon_skip_144861	4.506764e-01	2.506730e-09
CB	ELAVL1	exon_skip_18053	4.453093e-01	4.065666e-09
CB	U2AF2	exon_skip_18053	4.911775e-01	4.913151e-11
CB	CNOT4	exon_skip_18053	4.352300e-01	9.859194e-09
CB	FXR2	exon_skip_18053	4.861111e-01	8.267982e-11
CB	PCBP1	exon_skip_18053	4.111423e-01	7.309644e-08
CB	KHSRP	exon_skip_18053	4.288053e-01	1.708431e-08
CB	HNRNPA0	exon_skip_18053	4.419038e-01	5.501978e-09
CB	HNRNPA2B1	exon_skip_18053	4.412541e-01	5.826651e-09
CB	HNRNPAB	exon_skip_18053	5.079414e-01	8.249985e-12
CB	HNRNPL	exon_skip_18053	4.124179e-01	6.599507e-08
CB	CELF1	exon_skip_18053	4.193916e-01	3.745983e-08
CB	EWSR1	exon_skip_18053	4.148285e-01	5.434080e-08
CB	SRSF4	exon_skip_18053	4.928489e-01	4.130245e-11
CB	RBM4	exon_skip_18053	5.037573e-01	1.299639e-11
CB	RBM4B	exon_skip_18053	4.259599e-01	2.171500e-08
CB	TARDBP	exon_skip_208305	5.472720e-01	1.004107e-13
CB	RBFOX2	exon_skip_208305	5.258667e-01	1.292466e-12
CB	ELAVL4	exon_skip_208305	4.720919e-01	3.802051e-10
CB	RBM25	exon_skip_208305	4.079940e-01	1.031581e-07
CB	ZNF326	exon_skip_208305	4.406105e-01	6.890084e-09
CB	ELAVL1	exon_skip_208305	5.924761e-01	2.402697e-16
CB	SRSF11	exon_skip_208305	4.160243e-01	5.439990e-08
CB	SAMD4A	exon_skip_208305	5.028031e-01	1.671417e-11
CB	U2AF2	exon_skip_208305	5.434481e-01	1.606217e-13
CB	CNOT4	exon_skip_208305	5.999509e-01	8.071629e-17
CB	RBM5	exon_skip_208305	4.564633e-01	1.661905e-09
CB	MBNL1	exon_skip_208305	4.860169e-01	9.581070e-11
CB	FXR2	exon_skip_208305	5.596186e-01	2.113724e-14
CB	PCBP1	exon_skip_208305	5.817961e-01	1.088190e-15
CB	HNRNPK	exon_skip_208305	4.543613e-01	2.015248e-09
CB	TRA2A	exon_skip_208305	4.822857e-01	1.394625e-10
CB	PCBP2	exon_skip_208305	5.135094e-01	5.216922e-12
CB	RC3H1	exon_skip_208305	4.667268e-01	6.361644e-10
CB	G3BP2	exon_skip_208305	5.224339e-01	1.915240e-12
CB	SF1	exon_skip_208305	4.267692e-01	2.250104e-08
CB	FUBP1	exon_skip_208305	4.794849e-01	1.843142e-10
CB	KHSRP	exon_skip_208305	5.340936e-01	4.945061e-13
CB	HNRNPA0	exon_skip_208305	4.850743e-01	1.053875e-10
CB	PUM1	exon_skip_208305	5.012452e-01	1.973371e-11
CB	HNRNPA2B1	exon_skip_208305	6.449883e-01	5.901685e-20
CB	HNRNPAB	exon_skip_208305	5.795407e-01	1.486591e-15
CB	HNRNPC	exon_skip_208305	5.655538e-01	9.764681e-15
CB	RALYL	exon_skip_208305	5.259865e-01	1.274736e-12
CB	EIF4G2	exon_skip_208305	5.930020e-01	2.227229e-16
CB	HNRNPL	exon_skip_208305	4.921368e-01	5.125072e-11
CB	CPEB4	exon_skip_208305	4.232798e-01	3.007333e-08
CB	CELF1	exon_skip_208305	4.950700e-01	3.780520e-11
CB	CPEB1	exon_skip_208305	4.415137e-01	6.366185e-09
CB	EWSR1	exon_skip_208305	4.295062e-01	1.788084e-08
CB	SRSF1	exon_skip_208305	5.204246e-01	2.406090e-12
CB	SRSF4	exon_skip_208305	5.835563e-01	8.515959e-16
CB	HNRNPH2	exon_skip_208305	4.691647e-01	5.040398e-10
CB	EIF4B	exon_skip_208305	4.130460e-01	6.910617e-08
CB	RBM41	exon_skip_208305	5.242475e-01	1.556765e-12
CB	HNRNPF	exon_skip_208305	5.161793e-01	3.877439e-12
CB	SART3	exon_skip_208305	4.531324e-01	2.254295e-09
CB	RBM4	exon_skip_208305	5.970672e-01	1.233627e-16
CB	RBM4B	exon_skip_208305	5.359166e-01	3.982679e-13
CB	ZNF326	exon_skip_107903	4.340116e-01	1.095220e-08
CB	ELAVL1	exon_skip_107903	4.254699e-01	2.262552e-08
CB	TRA2A	exon_skip_107903	5.340405e-01	4.194175e-13
CB	CNOT4	exon_skip_88848	4.257463e-01	3.011530e-08
CB	HNRNPA2B1	exon_skip_88848	4.289629e-01	2.308035e-08
CB	CNOT4	exon_skip_90195	-4.015171e-01	1.559258e-07
CB	RC3H1	exon_skip_90195	-4.090592e-01	8.629461e-08
CB	RBM6	exon_skip_227419	-4.569038e-01	1.415198e-09
CB	TRA2A	exon_skip_227419	-4.281949e-01	1.798957e-08
CB	PTBP1	exon_skip_227419	-4.160337e-01	4.928188e-08
DLPFC	G3BP2	exon_skip_154349	4.058501e-01	1.214060e-13
DLPFC	RBFOX2	exon_skip_208305	5.780624e-01	4.207167e-30
DLPFC	KHDRBS2	exon_skip_208305	4.690765e-01	5.073937e-19
DLPFC	CPEB1	exon_skip_208305	4.355509e-01	2.439768e-16
DLPFC	KHDRBS2	exon_skip_242651	4.343385e-01	2.436629e-16
FL	MSI1	exon_skip_144861	-4.011625e-01	6.760540e-09
HCC	SRSF2	exon_skip_208305	-4.902183e-01	6.541826e-18
HCC	RBMS3	exon_skip_208305	-4.916723e-01	5.055381e-18
HCC	RBM3	exon_skip_208305	-5.182076e-01	3.666213e-20
HCC	PCBP4	exon_skip_208305	-5.261761e-01	7.662911e-21
HCC	UNK	exon_skip_208305	-4.030863e-01	4.342691e-12
HCC	FUBP3	exon_skip_208305	-5.498832e-01	5.652844e-23
HCC	PUF60	exon_skip_208305	-4.171441e-01	6.421866e-13
HCC	RALY	exon_skip_208305	-4.079503e-01	2.264249e-12
HCC	SRSF5	exon_skip_208305	-4.861309e-01	1.341381e-17
HCC	ZCRB1	exon_skip_208305	-4.089467e-01	1.978873e-12
HCC	SRSF2	exon_skip_107903	-4.237358e-01	2.809542e-13
HCC	RBMS3	exon_skip_107903	-4.469019e-01	9.269008e-15
HCC	RBM3	exon_skip_107903	-4.291195e-01	1.301152e-13
HCC	SRSF5	exon_skip_107903	-4.058873e-01	3.275737e-12
HCC	HNRNPF	exon_skip_295566	-4.443031e-01	1.231357e-14
IFG	ELAVL1	exon_skip_144861	-4.440794e-01	1.791589e-02
IFG	RBM6	exon_skip_144861	-4.264771e-01	2.362744e-02
IFG	SRSF11	exon_skip_144861	-4.629305e-01	1.311265e-02
IFG	CNOT4	exon_skip_144861	-5.414042e-01	2.926952e-03
IFG	RBM5	exon_skip_144861	-6.013437e-01	7.129103e-04
IFG	UNK	exon_skip_144861	-5.267924e-01	3.975849e-03
IFG	RC3H1	exon_skip_144861	-5.377559e-01	3.163594e-03
IFG	SF1	exon_skip_144861	-6.482123e-01	1.914271e-04
IFG	FUBP3	exon_skip_144861	-4.833451e-01	9.170594e-03
IFG	FUBP1	exon_skip_144861	-4.586079e-01	1.410651e-02
IFG	ENOX1	exon_skip_144861	-5.498426e-01	2.437047e-03
IFG	SRSF1	exon_skip_144861	-5.130882e-01	5.235842e-03
IFG	PABPN1L	exon_skip_208305	-4.391053e-01	1.940027e-02
IFG	A1CF	exon_skip_208305	-4.929832e-01	7.688302e-03
IFG	RBM24	exon_skip_208305	4.458537e-01	1.740958e-02
IFG	RBM3	exon_skip_107903	-4.345304e-01	2.351860e-02
IFG	A1CF	exon_skip_107903	-5.130012e-01	6.212199e-03
IFG	RBM24	exon_skip_107903	4.589766e-01	1.603354e-02
IFG	HNRNPF	exon_skip_107903	-4.223073e-01	2.820961e-02
IFG	TRNAU1AP	exon_skip_242651	-4.259652e-01	2.381349e-02
IFG	A1CF	exon_skip_90195	4.626455e-01	1.317633e-02
PCC	RBFOX2	exon_skip_208305	4.052964e-01	7.941717e-10
PCC	FUBP3	exon_skip_208305	-4.604289e-01	1.421241e-12
PCC	ZNF326	exon_skip_107903	-4.341527e-01	3.340780e-11
PCC	HNRNPF	exon_skip_107903	-4.170072e-01	2.275933e-10
PCC	G3BP2	exon_skip_154349	4.640791e-01	3.493840e-12
PCC	PTBP1	exon_skip_154349	-4.391962e-01	6.205029e-11
TC	FXR2	exon_skip_144861	4.125425e-01	5.934070e-08
TC	HNRNPAB	exon_skip_144861	4.464857e-01	3.264506e-09
TC	HNRNPAB	exon_skip_18053	4.131892e-01	5.631581e-08
TC	RBFOX2	exon_skip_61846	4.312940e-01	1.243652e-08
TC	ELAVL4	exon_skip_61846	4.482837e-01	2.774323e-09
TC	CNOT4	exon_skip_61846	4.271719e-01	1.767876e-08
TC	MBNL1	exon_skip_61846	4.167272e-01	4.221516e-08
TC	FXR2	exon_skip_61846	4.672092e-01	4.720969e-10
TC	PCBP1	exon_skip_61846	4.297404e-01	1.420725e-08
TC	G3BP2	exon_skip_61846	4.408103e-01	5.422171e-09
TC	KHDRBS3	exon_skip_61846	4.983079e-01	2.011831e-11
TC	PUM1	exon_skip_61846	4.303197e-01	1.352035e-08
TC	HNRNPAB	exon_skip_61846	4.298254e-01	1.410451e-08
TC	RALYL	exon_skip_61846	4.226440e-01	2.587641e-08
TC	EIF4G2	exon_skip_61846	4.358141e-01	8.410804e-09
TC	CPEB1	exon_skip_61846	4.102362e-01	7.144936e-08
TC	SRSF9	exon_skip_61846	4.071446e-01	9.144373e-08
TC	RBM4	exon_skip_61846	4.087957e-01	8.017941e-08
TC	NUP42	exon_skip_219232	4.470054e-01	3.114828e-09
TC	RALYL	exon_skip_219232	4.366562e-01	7.814817e-09
TC	HNRNPH2	exon_skip_219232	4.367676e-01	7.739066e-09
TC	ESRP1	exon_skip_219232	4.562019e-01	1.339882e-09
TC	SRSF2	exon_skip_154349	4.058433e-01	1.013763e-07
TC	MATR3	exon_skip_154349	5.198333e-01	1.865805e-12
TC	G3BP2	exon_skip_154349	5.082998e-01	6.810636e-12
TC	RBM24	exon_skip_154349	4.526999e-01	1.852940e-09
TC	RALYL	exon_skip_154349	5.535153e-01	3.173184e-14
TC	NOVA1	exon_skip_154349	4.204438e-01	3.107604e-08

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RelatedDrugs for MFF

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 MFF

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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