ExonSkipAD: functional annotation of exon skipping event in human

Gene summary for MACF1

Gene summary

Gene information	Gene symbol	MACF1
	Gene ID	23499
	Gene name	microtubule actin crosslinking factor 1
	Synonyms	ABP620\|ACF7\|LIS9\|MACF\|OFC4
	Cytomap	1p34.3
	Type of gene	protein-coding
	Description	microtubule-actin cross-linking factor 1620 kDa actin binding proteinactin cross-linking family protein 7macrophin 1 isoformtrabeculin-alpha
	Modification date	20200313
	UniProtAcc	A0A0A6YYJ5, A0A286YES6, A0A590UJG2, A0A5F9ZGX0, B4DQX9, E9PLY0, E9PLY5, E9PNZ4, E9PS75, H0Y314, H0Y390, H0Y4F5, H0Y6T5, H0Y7I1, H3BPE1, H3BQK9, Q32Q32, Q6IPG6, Q8WXX9, Q8WXY0, Q8WXY3, Q8WXY4, Q96IQ1, Q9UPN3,
	Context

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

Gene	GO ID	GO term	PubMed ID
MACF1	GO:0030334	regulation of cell migration	27693509
MACF1	GO:0043001	Golgi to plasma membrane protein transport	15265687
MACF1	GO:0045773	positive regulation of axon extension	22705394
MACF1	GO:0051893	regulation of focal adhesion assembly	27693509

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Gene structures and expression levels for MACF1

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.

ENSG00000127603

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
PG	UP	ENST00000289893.8	MACF1-201:protein_coding:MACF1	2.932579e+03	8.324979e-01	5.285351e-07	5.437814e-05
CB	UP	ENST00000524432.5	MACF1-227:protein_coding:MACF1	2.745409e+01	1.036367e+00	2.162469e-04	1.423144e-03
CB	DOWN	ENST00000422234.2	MACF1-206:protein_coding:MACF1	2.049558e+00	-2.440839e+00	1.194775e-03	5.999572e-03
CB	DOWN	ENST00000442046.5	MACF1-207:protein_coding:MACF1	8.043426e+02	-2.674774e+00	1.729359e-03	8.163955e-03
TC	UP	ENST00000289893.8	MACF1-201:protein_coding:MACF1	3.034447e+03	1.049471e+00	3.687808e-05	7.283275e-04
TC	DOWN	ENST00000446276.5	MACF1-208:protein_coding:MACF1	3.870475e+02	-8.556252e-01	1.440281e-03	1.304618e-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 MACF1

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

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_123293	MSBB_STG	4.979412e-01	3.979167e-01	1.000245e-01	2.409942e-02
exon_skip_123293	MSBB_PG	5.623841e-01	4.474138e-01	1.149703e-01	1.706321e-06
exon_skip_2894	MSBB_PG	4.924667e-01	3.470690e-01	1.453977e-01	1.525726e-07
exon_skip_109420	MSBB_PG	3.891912e-01	4.990909e-01	-1.098997e-01	4.226792e-03
exon_skip_2894	MSBB_IFG	4.294118e-01	3.272727e-01	1.021390e-01	4.049546e-02
exon_skip_189342	Mayo_TC	5.698780e-01	4.345455e-01	1.353326e-01	4.789696e-06

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Open reading frame (ORF) annotation in the exon skipping event for MACF1

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
ENST00000372915	39302924	39303078	Frame-shift
ENST00000372915	39315513	39315691	Frame-shift
ENST00000372915	39368148	39368314	Frame-shift
ENST00000372915	39370030	39370186	Frame-shift
ENST00000372915	39381953	39382152	Frame-shift
ENST00000372915	39385434	39385929	Frame-shift
ENST00000372915	39429242	39429326	Frame-shift
ENST00000372915	39437777	39438008	Frame-shift
ENST00000372915	39439274	39439500	Frame-shift
ENST00000372915	39451052	39451211	Frame-shift
ENST00000372915	39460632	39460794	Frame-shift
ENST00000372915	39484601	39484730	Frame-shift
ENST00000372915	39257936	39258028	In-frame
ENST00000372915	39295046	39295150	In-frame
ENST00000372915	39319664	39319747	In-frame
ENST00000372915	39378461	39378523	In-frame
ENST00000372915	39422374	39422535	In-frame
ENST00000372915	39433048	39433155	In-frame
ENST00000372915	39436482	39436490	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
ENST00000372915	39302924	39303078	Frame-shift
ENST00000372915	39315513	39315691	Frame-shift
ENST00000372915	39368148	39368314	Frame-shift
ENST00000372915	39370030	39370186	Frame-shift
ENST00000372915	39381953	39382152	Frame-shift
ENST00000372915	39385434	39385929	Frame-shift
ENST00000372915	39437777	39438008	Frame-shift
ENST00000372915	39257936	39258028	In-frame
ENST00000372915	39319664	39319747	In-frame
ENST00000372915	39331203	39336653	In-frame
ENST00000372915	39340804	39340953	In-frame
ENST00000372915	39378461	39378523	In-frame
ENST00000372915	39422374	39422535	In-frame
ENST00000372915	39433048	39433155	In-frame
ENST00000372915	39436482	39436490	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
ENST00000372915	39302924	39303078	Frame-shift
ENST00000372915	39315513	39315691	Frame-shift
ENST00000372915	39368148	39368314	Frame-shift
ENST00000372915	39370030	39370186	Frame-shift
ENST00000372915	39372479	39372596	Frame-shift
ENST00000372915	39381953	39382152	Frame-shift
ENST00000372915	39385434	39385929	Frame-shift
ENST00000372915	39427455	39427614	Frame-shift
ENST00000372915	39429242	39429326	Frame-shift
ENST00000372915	39437777	39438008	Frame-shift
ENST00000372915	39439274	39439500	Frame-shift
ENST00000372915	39460632	39460794	Frame-shift
ENST00000372915	39468615	39468732	Frame-shift
ENST00000372915	39479798	39480009	Frame-shift
ENST00000372915	39484601	39484730	Frame-shift
ENST00000372915	39257936	39258028	In-frame
ENST00000372915	39295046	39295150	In-frame
ENST00000372915	39319664	39319747	In-frame
ENST00000372915	39331203	39336653	In-frame
ENST00000372915	39340804	39340953	In-frame
ENST00000372915	39378461	39378523	In-frame
ENST00000372915	39422374	39422535	In-frame
ENST00000372915	39433048	39433155	In-frame
ENST00000372915	39434414	39434632	In-frame
ENST00000372915	39436482	39436490	In-frame
ENST00000372915	39441003	39441125	In-frame

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Infer the effects of exon skipping event on protein functional features for MACF1

p-ENSG00000127603_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
ENST00000372915	23457	7388	39257936	39258028	539	630	150	181
ENST00000372915	23457	7388	39295046	39295150	2258	2361	723	758
ENST00000372915	23457	7388	39319664	39319747	4049	4131	1320	1348
ENST00000372915	23457	7388	39378461	39378523	13317	13378	4410	4430
ENST00000372915	23457	7388	39422374	39422535	15920	16080	5277	5331
ENST00000372915	23457	7388	39433048	39433155	17234	17340	5715	5751

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
ENST00000372915	23457	7388	39257936	39258028	539	630	150	181
ENST00000372915	23457	7388	39319664	39319747	4049	4131	1320	1348
ENST00000372915	23457	7388	39331203	39336653	4718	10167	1543	3360
ENST00000372915	23457	7388	39340804	39340953	10535	10683	3482	3532
ENST00000372915	23457	7388	39378461	39378523	13317	13378	4410	4430
ENST00000372915	23457	7388	39422374	39422535	15920	16080	5277	5331
ENST00000372915	23457	7388	39433048	39433155	17234	17340	5715	5751

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
ENST00000372915	23457	7388	39257936	39258028	539	630	150	181
ENST00000372915	23457	7388	39295046	39295150	2258	2361	723	758
ENST00000372915	23457	7388	39319664	39319747	4049	4131	1320	1348
ENST00000372915	23457	7388	39331203	39336653	4718	10167	1543	3360
ENST00000372915	23457	7388	39340804	39340953	10535	10683	3482	3532
ENST00000372915	23457	7388	39378461	39378523	13317	13378	4410	4430
ENST00000372915	23457	7388	39422374	39422535	15920	16080	5277	5331
ENST00000372915	23457	7388	39433048	39433155	17234	17340	5715	5751
ENST00000372915	23457	7388	39434414	39434632	17342	17559	5751	5824
ENST00000372915	23457	7388	39441003	39441125	18233	18354	6048	6089

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
Q9UPN3	150	181	1	1565	Alternative sequence	ID=VSP_043626;Note=In isoform 4. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:11845288;Dbxref=PMID:11845288
Q9UPN3	150	181	1	7388	Chain	ID=PRO_0000073449;Note=Microtubule-actin cross-linking factor 1%2C isoforms 1/2/3/5
Q9UPN3	150	181	78	181	Domain	Note=Calponin-homology (CH) 1;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00044
Q9UPN3	150	181	158	162	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4Z6G
Q9UPN3	150	181	166	180	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4Z6G
Q9UPN3	150	181	1	295	Region	Note=Actin-binding
Q9UPN3	150	181	148	171	Repeat	Note=LRR 1
Q9UPN3	150	181	181	183	Turn	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4Z6G
Q9UPN3	723	758	1	1565	Alternative sequence	ID=VSP_043626;Note=In isoform 4. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:11845288;Dbxref=PMID:11845288
Q9UPN3	723	758	1	7388	Chain	ID=PRO_0000073449;Note=Microtubule-actin cross-linking factor 1%2C isoforms 1/2/3/5
Q9UPN3	1320	1348	1	1565	Alternative sequence	ID=VSP_043626;Note=In isoform 4. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:11845288;Dbxref=PMID:11845288
Q9UPN3	1320	1348	1	7388	Chain	ID=PRO_0000073449;Note=Microtubule-actin cross-linking factor 1%2C isoforms 1/2/3/5
Q9UPN3	4410	4430	4410	4430	Alternative sequence	ID=VSP_041392;Note=In isoform 3 and isoform 5. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303\|PubMed:10559237,ECO:0000303\|PubMed:9455484;Dbxref=PMID:10559237,PMID:9455484
Q9UPN3	4410	4430	1	7388	Chain	ID=PRO_0000073449;Note=Microtubule-actin cross-linking factor 1%2C isoforms 1/2/3/5
Q9UPN3	4410	4430	4411	4417	Sequence conflict	Note=SILPSVG->EYRLFKI;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q9UPN3	5277	5331	1	7388	Chain	ID=PRO_0000073449;Note=Microtubule-actin cross-linking factor 1%2C isoforms 1/2/3/5
Q9UPN3	5277	5331	5236	5341	Repeat	Note=Spectrin 6
Q9UPN3	5277	5331	5281	5304	Repeat	Note=LRR 21
Q9UPN3	5715	5751	1	7388	Chain	ID=PRO_0000073449;Note=Microtubule-actin cross-linking factor 1%2C isoforms 1/2/3/5
Q9UPN3	5715	5751	5695	5719	Repeat	Note=LRR 22

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
Q9UPN3	150	181	1	1565	Alternative sequence	ID=VSP_043626;Note=In isoform 4. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:11845288;Dbxref=PMID:11845288
Q9UPN3	150	181	1	7388	Chain	ID=PRO_0000073449;Note=Microtubule-actin cross-linking factor 1%2C isoforms 1/2/3/5
Q9UPN3	150	181	78	181	Domain	Note=Calponin-homology (CH) 1;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00044
Q9UPN3	150	181	158	162	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4Z6G
Q9UPN3	150	181	166	180	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4Z6G
Q9UPN3	150	181	1	295	Region	Note=Actin-binding
Q9UPN3	150	181	148	171	Repeat	Note=LRR 1
Q9UPN3	150	181	181	183	Turn	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4Z6G
Q9UPN3	1320	1348	1	1565	Alternative sequence	ID=VSP_043626;Note=In isoform 4. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:11845288;Dbxref=PMID:11845288
Q9UPN3	1320	1348	1	7388	Chain	ID=PRO_0000073449;Note=Microtubule-actin cross-linking factor 1%2C isoforms 1/2/3/5
Q9UPN3	1543	3360	1	1565	Alternative sequence	ID=VSP_043626;Note=In isoform 4. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:11845288;Dbxref=PMID:11845288
Q9UPN3	1543	3360	1543	3609	Alternative sequence	ID=VSP_041391;Note=In isoform 2%2C isoform 3 and isoform 5. Missing;Ontology_term=ECO:0000303,ECO:0000303,ECO:0000303,ECO:0000303;evidence=ECO:0000303\|PubMed:10529403,ECO:0000303\|PubMed:10559237,ECO:0000303\|PubMed:10574462,ECO:0000303\|PubMed:9455484;Dbxre
Q9UPN3	1543	3360	1	7388	Chain	ID=PRO_0000073449;Note=Microtubule-actin cross-linking factor 1%2C isoforms 1/2/3/5
Q9UPN3	1543	3360	1986	1989	Compositional bias	Note=Poly-Leu
Q9UPN3	1543	3360	2006	2006	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244\|PubMed:23186163;Dbxref=PMID:23186163
Q9UPN3	1543	3360	2051	2051	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244\|PubMed:23186163;Dbxref=PMID:23186163
Q9UPN3	1543	3360	2077	2077	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250\|UniProtKB:Q9QXZ0
Q9UPN3	1543	3360	3122	3122	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250\|UniProtKB:Q9QXZ0
Q9UPN3	1543	3360	3331	3331	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244\|PubMed:23186163;Dbxref=PMID:23186163
Q9UPN3	1543	3360	1577	1621	Repeat	Note=Plectin 1
Q9UPN3	1543	3360	1654	1696	Repeat	Note=Plectin 2
Q9UPN3	1543	3360	1769	1809	Repeat	Note=Plectin 3
Q9UPN3	1543	3360	1811	1848	Repeat	Note=Plectin 4
Q9UPN3	1543	3360	1855	1886	Repeat	Note=Plectin 5
Q9UPN3	1543	3360	2290	2332	Repeat	Note=Plectin 6
Q9UPN3	1543	3360	2367	2410	Repeat	Note=Plectin 7
Q9UPN3	1543	3360	2411	2437	Repeat	Note=Plectin 8
Q9UPN3	1543	3360	2501	2543	Repeat	Note=Plectin 9
Q9UPN3	1543	3360	2581	2612	Repeat	Note=Plectin 10
Q9UPN3	1543	3360	2686	2730	Repeat	Note=Plectin 11
Q9UPN3	1543	3360	3239	3262	Repeat	Note=LRR 9
Q9UPN3	1543	3360	3264	3283	Repeat	Note=LRR 10
Q9UPN3	1543	3360	3277	3277	Sequence conflict	Note=P->S;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q9UPN3	3482	3532	1543	3609	Alternative sequence	ID=VSP_041391;Note=In isoform 2%2C isoform 3 and isoform 5. Missing;Ontology_term=ECO:0000303,ECO:0000303,ECO:0000303,ECO:0000303;evidence=ECO:0000303\|PubMed:10529403,ECO:0000303\|PubMed:10559237,ECO:0000303\|PubMed:10574462,ECO:0000303\|PubMed:9455484;Dbxre
Q9UPN3	3482	3532	1	7388	Chain	ID=PRO_0000073449;Note=Microtubule-actin cross-linking factor 1%2C isoforms 1/2/3/5
Q9UPN3	4410	4430	4410	4430	Alternative sequence	ID=VSP_041392;Note=In isoform 3 and isoform 5. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303\|PubMed:10559237,ECO:0000303\|PubMed:9455484;Dbxref=PMID:10559237,PMID:9455484
Q9UPN3	4410	4430	1	7388	Chain	ID=PRO_0000073449;Note=Microtubule-actin cross-linking factor 1%2C isoforms 1/2/3/5
Q9UPN3	4410	4430	4411	4417	Sequence conflict	Note=SILPSVG->EYRLFKI;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q9UPN3	5277	5331	1	7388	Chain	ID=PRO_0000073449;Note=Microtubule-actin cross-linking factor 1%2C isoforms 1/2/3/5
Q9UPN3	5277	5331	5236	5341	Repeat	Note=Spectrin 6
Q9UPN3	5277	5331	5281	5304	Repeat	Note=LRR 21
Q9UPN3	5715	5751	1	7388	Chain	ID=PRO_0000073449;Note=Microtubule-actin cross-linking factor 1%2C isoforms 1/2/3/5
Q9UPN3	5715	5751	5695	5719	Repeat	Note=LRR 22

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
Q9UPN3	150	181	1	1565	Alternative sequence	ID=VSP_043626;Note=In isoform 4. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:11845288;Dbxref=PMID:11845288
Q9UPN3	150	181	1	7388	Chain	ID=PRO_0000073449;Note=Microtubule-actin cross-linking factor 1%2C isoforms 1/2/3/5
Q9UPN3	150	181	78	181	Domain	Note=Calponin-homology (CH) 1;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00044
Q9UPN3	150	181	158	162	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4Z6G
Q9UPN3	150	181	166	180	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4Z6G
Q9UPN3	150	181	1	295	Region	Note=Actin-binding
Q9UPN3	150	181	148	171	Repeat	Note=LRR 1
Q9UPN3	150	181	181	183	Turn	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4Z6G
Q9UPN3	723	758	1	1565	Alternative sequence	ID=VSP_043626;Note=In isoform 4. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:11845288;Dbxref=PMID:11845288
Q9UPN3	723	758	1	7388	Chain	ID=PRO_0000073449;Note=Microtubule-actin cross-linking factor 1%2C isoforms 1/2/3/5
Q9UPN3	1320	1348	1	1565	Alternative sequence	ID=VSP_043626;Note=In isoform 4. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:11845288;Dbxref=PMID:11845288
Q9UPN3	1320	1348	1	7388	Chain	ID=PRO_0000073449;Note=Microtubule-actin cross-linking factor 1%2C isoforms 1/2/3/5
Q9UPN3	1543	3360	1	1565	Alternative sequence	ID=VSP_043626;Note=In isoform 4. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:11845288;Dbxref=PMID:11845288
Q9UPN3	1543	3360	1543	3609	Alternative sequence	ID=VSP_041391;Note=In isoform 2%2C isoform 3 and isoform 5. Missing;Ontology_term=ECO:0000303,ECO:0000303,ECO:0000303,ECO:0000303;evidence=ECO:0000303\|PubMed:10529403,ECO:0000303\|PubMed:10559237,ECO:0000303\|PubMed:10574462,ECO:0000303\|PubMed:9455484;Dbxre
Q9UPN3	1543	3360	1	7388	Chain	ID=PRO_0000073449;Note=Microtubule-actin cross-linking factor 1%2C isoforms 1/2/3/5
Q9UPN3	1543	3360	1986	1989	Compositional bias	Note=Poly-Leu
Q9UPN3	1543	3360	2006	2006	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244\|PubMed:23186163;Dbxref=PMID:23186163
Q9UPN3	1543	3360	2051	2051	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244\|PubMed:23186163;Dbxref=PMID:23186163
Q9UPN3	1543	3360	2077	2077	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250\|UniProtKB:Q9QXZ0
Q9UPN3	1543	3360	3122	3122	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250\|UniProtKB:Q9QXZ0
Q9UPN3	1543	3360	3331	3331	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244\|PubMed:23186163;Dbxref=PMID:23186163
Q9UPN3	1543	3360	1577	1621	Repeat	Note=Plectin 1
Q9UPN3	1543	3360	1654	1696	Repeat	Note=Plectin 2
Q9UPN3	1543	3360	1769	1809	Repeat	Note=Plectin 3
Q9UPN3	1543	3360	1811	1848	Repeat	Note=Plectin 4
Q9UPN3	1543	3360	1855	1886	Repeat	Note=Plectin 5
Q9UPN3	1543	3360	2290	2332	Repeat	Note=Plectin 6
Q9UPN3	1543	3360	2367	2410	Repeat	Note=Plectin 7
Q9UPN3	1543	3360	2411	2437	Repeat	Note=Plectin 8
Q9UPN3	1543	3360	2501	2543	Repeat	Note=Plectin 9
Q9UPN3	1543	3360	2581	2612	Repeat	Note=Plectin 10
Q9UPN3	1543	3360	2686	2730	Repeat	Note=Plectin 11
Q9UPN3	1543	3360	3239	3262	Repeat	Note=LRR 9
Q9UPN3	1543	3360	3264	3283	Repeat	Note=LRR 10
Q9UPN3	1543	3360	3277	3277	Sequence conflict	Note=P->S;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q9UPN3	3482	3532	1543	3609	Alternative sequence	ID=VSP_041391;Note=In isoform 2%2C isoform 3 and isoform 5. Missing;Ontology_term=ECO:0000303,ECO:0000303,ECO:0000303,ECO:0000303;evidence=ECO:0000303\|PubMed:10529403,ECO:0000303\|PubMed:10559237,ECO:0000303\|PubMed:10574462,ECO:0000303\|PubMed:9455484;Dbxre
Q9UPN3	3482	3532	1	7388	Chain	ID=PRO_0000073449;Note=Microtubule-actin cross-linking factor 1%2C isoforms 1/2/3/5
Q9UPN3	4410	4430	4410	4430	Alternative sequence	ID=VSP_041392;Note=In isoform 3 and isoform 5. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303\|PubMed:10559237,ECO:0000303\|PubMed:9455484;Dbxref=PMID:10559237,PMID:9455484
Q9UPN3	4410	4430	1	7388	Chain	ID=PRO_0000073449;Note=Microtubule-actin cross-linking factor 1%2C isoforms 1/2/3/5
Q9UPN3	4410	4430	4411	4417	Sequence conflict	Note=SILPSVG->EYRLFKI;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q9UPN3	5277	5331	1	7388	Chain	ID=PRO_0000073449;Note=Microtubule-actin cross-linking factor 1%2C isoforms 1/2/3/5
Q9UPN3	5277	5331	5236	5341	Repeat	Note=Spectrin 6
Q9UPN3	5277	5331	5281	5304	Repeat	Note=LRR 21
Q9UPN3	5715	5751	1	7388	Chain	ID=PRO_0000073449;Note=Microtubule-actin cross-linking factor 1%2C isoforms 1/2/3/5
Q9UPN3	5715	5751	5695	5719	Repeat	Note=LRR 22
Q9UPN3	5751	5824	1	7388	Chain	ID=PRO_0000073449;Note=Microtubule-actin cross-linking factor 1%2C isoforms 1/2/3/5
Q9UPN3	5751	5824	5808	5808	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000244;evidence=ECO:0000244\|PubMed:23186163,ECO:0000244\|PubMed:24275569;Dbxref=PMID:23186163,PMID:24275569
Q9UPN3	5751	5824	5783	5885	Repeat	Note=Spectrin 9
Q9UPN3	5751	5824	5804	5828	Repeat	Note=LRR 23
Q9UPN3	6048	6089	1	7388	Chain	ID=PRO_0000073449;Note=Microtubule-actin cross-linking factor 1%2C isoforms 1/2/3/5
Q9UPN3	6048	6089	6005	6110	Repeat	Note=Spectrin 10

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3'-UTR located exon skipping events that lost miRNA binding sites in MACF1

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 MACF1

- 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 MACF1

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
ADstage	MSBB	IFG	exon_skip_85266	-4.072492e-01	3.148104e-02	chr1	+	39297628	39297745	39299252	39299257	39300210	39300362
ADstage	MSBB	IFG	exon_skip_2894	4.039238e-01	3.303153e-02	chr1	+	39435626	39435761	39436482	39436490	39437777	39438008
ADstage	MSBB	IFG	exon_skip_144473	-3.743644e-01	4.968428e-02	chr1	+	39459123	39459249	39459818	39459832	39460632	39460794
ADstage	MSBB	PG	exon_skip_174418	-4.213735e-01	2.100000e-10	chr1	+	39459123	39459249	39459821	39459832	39460632	39460794
ADstage	MSBB	PG	exon_skip_144473	-3.815634e-01	1.200000e-08	chr1	+	39459123	39459249	39459818	39459832	39460632	39460794
ADstage	MSBB	PG	exon_skip_123293	3.261965e-01	1.440000e-06	chr1	+	39427455	39427614	39427961	39428287	39429242	39429326
CDR	MSBB	IFG	exon_skip_85266	-5.013500e-01	6.570427e-03	chr1	+	39297628	39297745	39299252	39299257	39300210	39300362
CDR	MSBB	IFG	exon_skip_144473	-4.756805e-01	1.051420e-02	chr1	+	39459123	39459249	39459818	39459832	39460632	39460794
CDR	MSBB	IFG	exon_skip_2894	4.490375e-01	1.653066e-02	chr1	+	39435626	39435761	39436482	39436490	39437777	39438008
CDR	MSBB	IFG	exon_skip_172301	-3.999206e-01	3.497897e-02	chr1	+	39380244	39380373	39381953	39382152	39385434	39385929
CDR	MSBB	IFG	exon_skip_109420	-3.822494e-01	4.470462e-02	chr1	+	39463612	39463686	39465095	39465112	39468615	39468732
CDR	MSBB	PG	exon_skip_144473	-4.230340e-01	1.760000e-10	chr1	+	39459123	39459249	39459818	39459832	39460632	39460794
CDR	MSBB	PG	exon_skip_174418	-3.651785e-01	5.430000e-08	chr1	+	39459123	39459249	39459821	39459832	39460632	39460794
CDR	MSBB	PG	exon_skip_85266	-3.370187e-01	6.050000e-07	chr1	+	39297628	39297745	39299252	39299257	39300210	39300362
CDR	MSBB	STG	exon_skip_109420	-3.798779e-01	1.728750e-04	chr1	+	39463612	39463686	39465095	39465112	39468615	39468732
CDR	MSBB	STG	exon_skip_153733	-3.388539e-01	8.922670e-04	chr1	+	39468643	39468732	39469547	39469615	39479798	39479880

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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for MACF1

sQTL information located at the skipped exons.

Tissue type

Exon skip ID

SNP id

Location

P-value

FDR

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Correlation with RNA binding proteins (RBPs) for MACF1

Correlated RBP and related information.

Tissue type	RBP name	Exon skip ID	Correlation coeifficient	P-value
CB	PABPC3	exon_skip_238838	4.169244e-01	4.583691e-08
CB	SRSF2	exon_skip_144473	5.143409e-01	4.067582e-12
CB	SRSF9	exon_skip_144473	4.850963e-01	9.167094e-11
CB	SRSF2	exon_skip_174418	5.399338e-01	2.064705e-13
DLPFC	KHDRBS2	exon_skip_153733	6.510773e-01	9.651117e-43
DLPFC	SRSF2	exon_skip_211760	5.926256e-01	1.579690e-24
DLPFC	SRSF1	exon_skip_211760	4.864256e-01	6.750490e-16
DLPFC	SRSF9	exon_skip_211760	5.273633e-01	7.207939e-19
DLPFC	SRSF2	exon_skip_263113	6.483140e-01	1.745706e-30
FL	G3BP2	exon_skip_85266	5.665836e-01	2.719523e-18
FL	SFPQ	exon_skip_284950	4.690642e-01	8.731179e-12
FL	RBM3	exon_skip_284950	5.661463e-01	1.702733e-17
FL	HNRNPK	exon_skip_284950	5.003623e-01	1.969825e-13
FL	RBM24	exon_skip_284950	4.181120e-01	1.943079e-09
FL	NUP42	exon_skip_284950	4.571999e-01	3.333236e-11
FL	HNRNPL	exon_skip_284950	4.640413e-01	1.549233e-11
FL	EIF4B	exon_skip_284950	4.517528e-01	6.061455e-11
FL	SRSF2	exon_skip_123293	-5.779988e-01	3.934483e-19
FL	RBFOX2	exon_skip_123293	-5.614704e-01	6.312165e-18
FL	FXR2	exon_skip_123293	-6.347829e-01	7.681763e-24
FL	ILF2	exon_skip_123293	-5.728477e-01	9.501484e-19
FL	HNRNPK	exon_skip_123293	-5.709868e-01	1.301616e-18
FL	G3BP2	exon_skip_123293	-7.236231e-01	1.479703e-33
FL	RBM24	exon_skip_123293	-5.278572e-01	1.133812e-15
FL	NUP42	exon_skip_123293	-4.089173e-01	2.017572e-09
FL	HNRNPL	exon_skip_123293	-5.299364e-01	8.361116e-16
FL	RBM23	exon_skip_123293	-4.551730e-01	1.434033e-11
FL	SRSF1	exon_skip_123293	-4.536949e-01	1.699538e-11
FL	SRSF9	exon_skip_123293	-5.158844e-01	6.293243e-15
FL	HNRNPH2	exon_skip_123293	-5.383724e-01	2.377786e-16
FL	EIF4B	exon_skip_123293	-5.759093e-01	5.636604e-19
FL	ESRP1	exon_skip_123293	-4.529895e-01	1.842536e-11
FL	SRSF2	exon_skip_211760	5.613835e-01	7.755701e-18
FL	SRSF11	exon_skip_211760	4.055648e-01	3.078340e-09
FL	SRSF9	exon_skip_211760	4.360470e-01	1.352587e-10
FL	SRSF2	exon_skip_263113	5.371140e-01	3.416583e-16
FL	EIF4G2	exon_skip_109420	4.078551e-01	2.701229e-09
HCC	DAZAP1	exon_skip_134796	5.959765e-01	1.517893e-27
HCC	MSI1	exon_skip_134796	5.117331e-01	1.480134e-19
HCC	RBMS3	exon_skip_123293	4.782542e-01	5.210531e-17
HCC	RBFOX2	exon_skip_123293	-4.422930e-01	1.670337e-14
HCC	PABPN1	exon_skip_123293	4.783164e-01	5.155738e-17
HCC	RBM25	exon_skip_123293	4.302559e-01	9.948726e-14
HCC	ZNF326	exon_skip_123293	5.591417e-01	7.457887e-24
HCC	SFPQ	exon_skip_123293	5.963853e-01	1.097439e-27
HCC	ZNF638	exon_skip_123293	4.423273e-01	1.661699e-14
HCC	RBM6	exon_skip_123293	6.130797e-01	1.428941e-29
HCC	RBM5	exon_skip_123293	5.868512e-01	1.171222e-26
HCC	PCBP1	exon_skip_123293	4.216680e-01	3.405529e-13
HCC	UNK	exon_skip_123293	5.006970e-01	9.928735e-19
HCC	G3BP2	exon_skip_123293	-4.308364e-01	9.143050e-14
HCC	HNRNPA2B1	exon_skip_123293	4.785097e-01	4.988879e-17
HCC	HNRNPAB	exon_skip_123293	4.257122e-01	1.916042e-13
HCC	SNRNP70	exon_skip_123293	5.507645e-01	4.674245e-23
HCC	PABPC1	exon_skip_123293	4.406786e-01	2.130738e-14
HCC	SRSF1	exon_skip_123293	4.079624e-01	2.260557e-12
HCC	SRSF4	exon_skip_123293	4.995333e-01	1.228065e-18
HCC	HNRNPF	exon_skip_123293	6.494504e-01	4.299051e-34
HCC	RBM4	exon_skip_123293	4.573657e-01	1.615249e-15
HCC	SRSF11	exon_skip_144473	-4.939777e-01	3.350966e-18
HCC	ZNF638	exon_skip_109420	-4.969767e-01	1.953546e-18
HCC	IGF2BP2	exon_skip_109420	-4.048558e-01	3.430786e-12
HCC	EIF4G2	exon_skip_109420	-5.617899e-01	4.129704e-24
IFG	G3BP2	exon_skip_85266	4.848268e-01	8.928233e-03
IFG	ZNF638	exon_skip_123293	5.067275e-01	5.927115e-03
IFG	RBM6	exon_skip_123293	4.836695e-01	9.117068e-03
IFG	RBM5	exon_skip_123293	4.112014e-01	2.971521e-02
IFG	IGF2BP3	exon_skip_123293	4.007153e-01	3.458522e-02
IFG	RBM3	exon_skip_123293	-4.844930e-01	8.982363e-03
IFG	TRA2A	exon_skip_123293	4.842185e-01	9.027078e-03
IFG	G3BP2	exon_skip_123293	-4.564940e-01	1.461483e-02
IFG	HNRNPA2B1	exon_skip_123293	5.086490e-01	5.710580e-03
IFG	SNRNP70	exon_skip_123293	4.205344e-01	2.586181e-02
IFG	PABPC1	exon_skip_123293	4.350052e-01	2.069850e-02
IFG	ESRP2	exon_skip_123293	5.115455e-01	5.396868e-03
IFG	ZNF638	exon_skip_109420	-5.853004e-01	1.068610e-03
IFG	IGF2BP2	exon_skip_109420	-4.497182e-01	1.634758e-02
IFG	DAZAP1	exon_skip_153733	-4.594601e-01	1.390578e-02
PCC	G3BP2	exon_skip_133537	6.368890e-01	2.908192e-24
PCC	RBFOX2	exon_skip_123293	-5.495984e-01	4.739796e-18
PCC	G3BP2	exon_skip_123293	-6.502021e-01	9.706349e-27
PCC	PABPC1	exon_skip_123293	4.636377e-01	1.213796e-12
PCC	HNRNPF	exon_skip_123293	4.848392e-01	7.723481e-14
PG	G3BP2	exon_skip_85266	5.183587e-01	9.067162e-16
PG	SAMD4A	exon_skip_284950	-4.495203e-01	1.225321e-10
PG	RBM3	exon_skip_284950	5.618917e-01	7.173737e-17
PG	SRSF2	exon_skip_123293	-5.191302e-01	8.083849e-16
PG	RBFOX2	exon_skip_123293	-7.444603e-01	3.579276e-38
PG	PABPN1	exon_skip_123293	-4.058314e-01	1.086073e-09
PG	RBM25	exon_skip_123293	-4.393055e-01	2.846910e-11
PG	CNOT4	exon_skip_123293	-4.302411e-01	7.941300e-11
PG	RBM3	exon_skip_123293	-4.368940e-01	3.751364e-11
PG	MBNL1	exon_skip_123293	-4.709078e-01	6.224008e-13
PG	FXR2	exon_skip_123293	-6.400414e-01	1.753433e-25
PG	PCBP1	exon_skip_123293	-4.515211e-01	6.803800e-12
PG	ILF2	exon_skip_123293	-6.057800e-01	2.541290e-22
PG	HNRNPK	exon_skip_123293	-5.896128e-01	5.864912e-21
PG	G3BP2	exon_skip_123293	-7.321236e-01	2.297151e-36
PG	RBM24	exon_skip_123293	-5.504471e-01	5.931562e-18
PG	ENOX1	exon_skip_123293	-4.154009e-01	3.993482e-10
PG	HNRNPAB	exon_skip_123293	-4.279110e-01	1.028735e-10
PG	NUP42	exon_skip_123293	-4.336125e-01	5.441601e-11
PG	HNRNPL	exon_skip_123293	-5.754944e-01	7.904411e-20
PG	CELF1	exon_skip_123293	-4.878457e-01	6.783507e-14
PG	RBM23	exon_skip_123293	-4.483220e-01	9.952732e-12
PG	EWSR1	exon_skip_123293	-5.033940e-01	7.941022e-15
PG	SRSF1	exon_skip_123293	-4.310726e-01	7.237210e-11
PG	HNRNPH2	exon_skip_123293	-7.094042e-01	2.756717e-33
PG	EIF4B	exon_skip_123293	-4.831258e-01	1.273646e-13
PG	SART3	exon_skip_123293	-4.635233e-01	1.575605e-12
PG	SRSF2	exon_skip_174418	4.328144e-01	5.953229e-11
PG	EIF4G2	exon_skip_109420	4.304754e-01	5.111310e-10
STG	G3BP2	exon_skip_85266	6.149717e-01	6.948648e-11
STG	SFPQ	exon_skip_284950	4.714922e-01	5.246236e-06
STG	RBM3	exon_skip_284950	5.019635e-01	9.864406e-07
STG	SRSF2	exon_skip_123293	-4.544081e-01	5.364419e-06
STG	RBFOX2	exon_skip_123293	-6.464979e-01	3.385257e-12
STG	MBNL1	exon_skip_123293	-4.074647e-01	5.548663e-05
STG	FXR2	exon_skip_123293	-5.518184e-01	1.188203e-08
STG	PCBP1	exon_skip_123293	-4.482497e-01	7.436194e-06
STG	ILF2	exon_skip_123293	-5.089956e-01	2.208502e-07
STG	HNRNPK	exon_skip_123293	-4.907810e-01	6.811675e-07
STG	G3BP2	exon_skip_123293	-6.344166e-01	1.122537e-11
STG	RBM24	exon_skip_123293	-4.892559e-01	7.463460e-07
STG	NUP42	exon_skip_123293	-4.333004e-01	1.601023e-05
STG	HNRNPL	exon_skip_123293	-4.830809e-01	1.075681e-06
STG	SRSF9	exon_skip_123293	-4.110112e-01	4.706272e-05
STG	HNRNPH2	exon_skip_123293	-6.382253e-01	7.736594e-12
STG	EIF4B	exon_skip_123293	-4.066128e-01	5.770948e-05
STG	SRSF2	exon_skip_174418	4.823431e-01	1.123164e-06
STG	PABPN1L	exon_skip_153733	-4.005096e-01	6.949830e-05
STG	LIN28A	exon_skip_153733	-4.670639e-01	2.363778e-06
STG	NOVA1	exon_skip_153733	4.085014e-01	4.803316e-05
TC	RBM3	exon_skip_223518	5.226978e-01	2.908333e-10
TC	RBMS3	exon_skip_189342	4.301415e-01	1.525279e-08
TC	SRSF2	exon_skip_211760	5.120661e-01	4.486154e-12
TC	SRSF9	exon_skip_211760	4.314769e-01	1.224268e-08
TC	SRSF2	exon_skip_263113	5.008079e-01	1.539291e-11

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RelatedDrugs for MACF1

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 MACF1

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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Gene summary for MACF1

Gene structures and expression levels for MACF1

Exon skipping events with PSIs in ROSMAP, MSBB, and Mayo for MACF1

Open reading frame (ORF) annotation in the exon skipping event for MACF1

Infer the effects of exon skipping event on protein functional features for MACF1

3'-UTR located exon skipping events that lost miRNA binding sites in MACF1

SNVs in the skipped exons for MACF1

AD stage-associated exon skippint events for MACF1

Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for MACF1

Correlation with RNA binding proteins (RBPs) for MACF1

RelatedDrugs for MACF1

RelatedDiseases for MACF1