Special

HsaEX0037170 @ hg19

Exon Skipping

Gene
ENSG00000127603 | MACF1
Description
microtubule-actin crosslinking factor 1 [Source:HGNC Symbol;Acc:13664]
Coordinates
chr1:39792890-39815299:+
Coord C1 exon
chr1:39792890-39793025
Coord A exon
chr1:39796875-39802325
Coord C2 exon
chr1:39815150-39815299
Length
5451 bp
Sequences
Splice sites
3' ss Seq
TTTTTTTTTTTTTTTTTTAGGAA
3' ss Score
13.15
5' ss Seq
CAGGTCAGT
5' ss Score
8.94
Exon sequences
Seq C1 exon
GCTCTCAGAAAAAGAGAAGAAACAAATATCTGAGCAATTGAATGCCCTAAACAAGGCTTACCATGACCTTTGTGATGGTTCTGCAAATCAGCTTCAGCAGCTTCAGAGCCAGTTGGCTCACCAGACAGAACAAAAG
Seq A exon
GAATGCAGAGCAGTTGCTGGGGTGATTGACCTAGGCACAGTGGAGATATTTCCCATCTTCAAAGCCATGCAAAAGGGCCTCCTTGACCAAGACACAGGCCTAGTGCTTCTGGAATCTCAGGTTATCATGTCTGGCCTCATTGCCCCTGAGACGGGTGAAAACCTCTCTTTGGAGGAGGGCATAGCCAGAAACCTCATTAATCCCCAGATGTACCAGCAGCTCCGGGAGCTACAGGATGCCCTGGCCTTAATAAGCAGGCTTACTGAGAGCAGAGGCCCTCTTTCTGTGGTGGAAGCAATTGAAAAGAGAATAATCAGTGAGACAGTTGGACTGAAAATCTTAGAAGCTCACCTGGCAACTGGAGGTTTCAGTCTTTCCCCTAGTGAGAACTGTATTAACCTGGAAGAGGCTTTTCATCAAGGCCTCATTTCTGCATGGCTTCATTCAGTATTAGAGTCTTATCTTAGAACATCCAAGAATTTGATAGACCCTAACACAGCTGAGAAAATTGGTTTGCTGGATCTGATGCAGCGATGTATTGTCCACCAGGAATCAGGATTCAAATTACTGCCTGTCAAACAATTGGCAGGGGGGATGGTGAGCTTGAAATCAGGCCGGAAGGTTAGCATTTTCCGTGCAGTTCAGGAAGGGCTAATAGATAGGCAGGTCACTGTCCGGTTGCTGGAAGCTCAGCTTTTTGCTGGTGGCATAGTAGATCCAAGAACAGGACACAGACTTACAGTGGAAGAGGCTGTAAGACATAATCTGATTGACCAAGATATGGCCTGTGCTATCCTCATAAGGCAGCTTCAGACAGGAGGCATCATAGACACTGTCACGGGGCAAAGGCTAACAATAGATGAAGCAGTGAGCAATGATCTAGTAGCTGCTAAGATCGCCCTTGTGATTCTGGAGTCCCTCTGGTCATTCATGGGGTTGCTGTGGCCTGAATCTGGAGAGATCCTCCCAATTACAGATGCCCTAGAACAAGGTATTGTGTCTACTGAACTAGCACATAAAATCCTTAGTAACCGACAGCATATTAAGGCTCTGTTTCTACCAGCAACCACAGAGATTTTGTCCTGGAAGAAAGCAATAGAAAGTGGTATCCTGGATAGAGATCTTGCCAATAACTTAAAATCGATTTGTATACCTGATGTGATGCCCCACATGCAACTAGCAGACTCTGCAGAACAAAATATTAATCCTGGAGCAGCAGTTCTACCGTGCAGCAAGAGCCACCCTAAGGCCACAGCAAGCCAGAGTGAGAATCTGTTGTTCCAGCTGATGACTCACAGCTATATTAATGTGCAAAATGGACAGAGGCTGCTTCTGTTAGATAAAGAGCTGATGGAGACACTAACATCCAGAGATGAGTATCAAACAAGTCCTCCAAAAGTGGTTGAAATTGGGCATCAAAGGCAAAAAACTCCTGAGGGATTGCAAGAATCAGCTAATGTGAAAATCTCAGGAACTTTCAGCAGTGGGTGGACTGTGAGGCTGCCTGAGTTCCAGTTTTCTTCTCAGAACAAAGAATATCCCGATCGGGAAGATTGCACTACAGAAAAAGGCAAAAAGACCACTGTAGAAACAGAAGATTCTTCTGTAGAGAACCCTGAACAGGATCTGTTTGTAGAACAAAAAGAGAGAAATCCAAACATTGATGCTTTGAAGGTAATAAATAAAGTCAAATTAGAGGTACAAAGGCAGTTGATAGGTACCCAAAGGGAAGACCAAACAGCAGTGTCTGTCAGAGAAAATGCCAGCAGGGGACACCTCCTGACCATACCTCCTGCTGAGGCGGAAGGTGTGCCGTTGGTGGTTGACAAAGATGTTTTTTCTGTTGAAACACCAAAGAAAGAACATCAACCTCTAAGAAACACTTCCTTTACATGTCAGAATGAACAAGCACACACTCTTGAGACTGAATATATTCATGATGAAACTGGAGGATCTCACATAAAACCCCAAAGCAAAAAGTTACAAGTTCAGGTAAAGAAAACTCTAGGTATAAAGTTAGAACTAAAGTCTGAAACTGATGGGAATGTTCATCCTCTGGACAAAAAGGAAATGTTAAAGAAAACATTTCTGGCTAAGGATGACCATAAAGAAAGTCAAGAAGCACAGAACATCGCAGGTGGTAGTATGATGATGTCAGAAAAGACCGATGAGGAAGATAGTGGCAGGGAAATTTTTCTGTCATGCAGTCATCCATTAGAATTGCTTGAAGAAGCTACCTTAAATGTATTATCTGCACAGTTACTAGATGGTGGTATCTTTCATGAACAAACAGGTCAAAAGCTCTTACTAAATGAAGCAATATCCCGAGGCATTGTGCCAAGTCACACTGCCGTGAAGCTTATGGAGAAGCTGAACATGTTTCAGGGGTTCTTTGACTCTCAGACTTGTGAGTCTTTGACAACTGAAGAAGTCATTAATGAAGGTCTGATGGATGAGAAATTATTACATAATGTCCTCATGGCAGACAAAGCTATAAGTGGTGTCTTAGACCCCCGTACCCAGACACTGTGCTCTGTAAAGGATGCAGTTACAGTTGGACTTCTTGACAAGGAAACAGCCACCAGAATTTTAGAGAGGCAGGTGGTGACTGGTGGAATTATTGATCTGAAACGAGGCAAAAAAGTTTCAGTAACTTTGGCCTCAACTCTTGGCTTGGTGGACGTTGCTGACCAGCCAGAACTTATAAATCTGGAGAAAGCTTCCAAAGGTAGAGATGCTGAAAAAACAGTTAGGGAGAGATTAATTAGTTTACAAATGGAAACAACAGGACTTATAGACCCTGATAGTAAAGCACCTTTAACAGTTGTGCAGTCCATTGACAGAGGTCTTTTGGAGAGAGAGGAGGCCGTTCGTTTGTTGACTAAGCAAGTGGTAGATGGAGGTATCATTCACCATATATCTGGGATGAGACTTTCTGTTGATAATGCCTTCAGACATGGCTTAATTGGTGAAGATTTAGCCGAGAAACTCAAAAGAGTTGAGAACTTAAACATCCATCAGATTTTTAATCCTGAAACGAAGGAAAATATTTCCCTCCCTAAAGCCATAAAATTAGATCTTATTACCTCAGACCTGAAAAGAGAAATCCAGGAGGTTCAGGCCTTTACTGGAAACTTTGTGGATCTCATTTCTGGTCAGAGATTGACCTTGGCAGAAGCTAAAAAAGAAGGACTGTTAACTAATGAAGCAGTATTGTCTCCAGGAATGATGCATGGCATTGTAGATCCCGAGAACTGCAGAATTGTCCCCTACTCAGAATTAGTCAAGAAATGTAAGATTGATATTGAATCTGGACAGAGATATCTAGAAGTAATTCCCTTCTCAGACATTAAAGATGGGGTGAGCGACAAAGTGCTTACATTGTCTCAAGCAATTCAGCTTGGAAAAGTAGACTTTGCATCTACGCTGAAGGTTCTAGAAGCCCAGGCAAATACTGGTGGAATCATAGATACTGCTACTGGAAAAAGACTGACATTGGCATCAGCTTTGGAAGAGAAACTGGTGGATGAAAACATGGTCAGAATTATTGCATCTCATCAGGTGTTAAATGGAGGAATTGTTGACATATTTAGTGATCAGAGAGTGACTTTAGTAGAAGCTATTGAGAAAAGACTGATCAGCCCTGAACTGGCAAATATGATCCAAATAGATAGTTCAGAGTTCAGCGATCACAGGGCTCAGATTGAAAAGCAAGAAGGGATTGAAGTGTGTGCATTACAAAATGAATTTCTAGGAAAGGATATGTTAATTGCTTGTAATCAGACTGCTGAAATGAGTTGTAATAAAGTAGAAGAGAGTGAGAGATTATTTCAAGTTGAAAATCAGTCTGCACAAGAAAAGGTTAAAGTGAGAGTTTCTGATGGGGAGCAGGCAAAAAAGAGCAGGGAAATTTCCTTAAAGGAATTTGGGTGCAAGGATCAACGTAAGCCAAGAATGTCTTCAGATGCTAAAGAATTTATCAGTATCATAAATCCTCATAATCTTAAAGGTAAATCCTTGGGCCAAGTGTCATTGACACACCCTTACTCTGAATGTGATTTTAAACTTAAAGAAGTGGCTAGAAATAACATGGGAAATGATACAAATGAAGAGCAGGAAAAAGCAGTGACAAAAATAGAAATTATTTCTCATATGAAGCAGTCTACCTCATGTCTAGATTCTGAAGAAATAAGAGAAAATCAAGGGGAAGTGATTTTGGAAGTACAAGAAACATATTGTGAAACGTCAGGCAAATTGCCGAGTGAGCAGGTTTTGCAGCAACCAATGAATGCTCGGGTGAAAAGTAAGAGAGAGAAGAGGGAGGTGATTGTAGAAGAAAGTATCAGAACATGCAAACCAGCATTTCTTTCTGAAGAAAAGTTGTATCAGGAAACTGCCATTAGAGATGAGCATGACTCCCATATAAAGAGCCAACCTAGGGAAATGACCTCAAGTGAAAAAGGGAAAGAAGCTGATACAGAAATGGGATTTTCTATTACTTTTAAAATTGAAGAGTCCTCTTCCCAAGTGGTACCTCAAGGAATTTCTGTAAAACATTTAGATGCTTTAACACTCTTCAGCTCTAAACAGGCCAATGAAGGAAAAGTAAACAATTTAAGTCTCTGCTTGACTTTAAAACCAGAAGAAAACTTATCTCGAGAAATTGCCTGTGGGGCCCAGAGTGAACCATTCCCTTGTATGACCCCAAGACCTGAAGGATTGCACTACCAGGAATCAGATGGAAAAGCCCAAGTGACAGGCCCATCCCAAATTTCCAAAACAGACAAGTCTTTCCAAGGAACCACCAGACAGGAGACCAACTATCAAGATTCCTGGGTTACTTCGAAAACTAAGGAAACCAAACATCAAATTTCCTCATCTAATGAATGTAAAGAAAAGTCATACCAAGAAGTATCTTTTGACCCAGCAAGAGGTCTTAAATTGGAAGAAATCACAGTTTCTAGACCAGATTCAAAAGAAGTCAGGTATCTAGAATTCTCAGACAGAAAAGACCTTCATCATCAGGGCAGCAAAAGTGATGATAAACTTTGTGGAACTCTCAAATCTGAAATAGCAACACAGGAACTAACTGGAGAGAAATTTCTAGAAATGGCAAACCCTAATGTTGCAGGTCTAGAAGCAGGATCCATTGAGGACATAGTGACTCAGAGAGGTTCCAGAGTCTTGGGATCCTTTCTTCCAGAGAAACTGTTCAAAGGAGTGTCTCAAAAAGAGAATACAGGGCAACAGAATGCCATCATTAGTCCTACTGTTCTAGAGACCAGTGAAGAAAAGACAGTGTCCCTAACAGTATGCTCTGCAGTGAAGACAGAGAAGACACCACAGGAAAAGCTCAGAGAAAGCCCTGGCAGTGAACAAACTCCCTTCATGACTGCACCTGAAGGAAAGGGAAATGGAGGTGTAAACCCAGAGCCCTTCAGAGCAACTCAG
Seq C2 exon
ACCCTGCAGAAACAACAAAATACCTGTCACCAGCAACTGGAGGATCTTTGCAGTTGGGTAGGACAGGCAGAAAGAGCACTGGCAGGCCACCAAGGCAGAACCACCCAGCAGGATCTCTCTGCTTTGCAGAAGAACCAAAGTGACTTGAAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000127603_MULTIEX1-1/5=C1-C2
Average complexity
C2
Mappability confidence:
100%=100=100%
Protein Impact





	

	
Alternative protein isoforms (Ref, Alt. ATG (>10 exons))





No structure available

		

			
Features


			

				
Disorder rate (Iupred):
  C1=0.391 A=0.288 C2=0.581
 
                        

				
Domain overlap (PFAM):

					





						

							
C1:
NO

							
A:
PF0068115=Plectin=WD(100=2.1),PF0068115=Plectin=WD(100=2.5),PF0068115=Plectin=WD(100=2.5),PF0068115=Plectin=WD(100=2.5),PF0068115=Plectin=WD(100=2.4),PF0068115=Plectin=WD(100=1.9),PF0068115=Plectin=WD(100=2.5),PF0068115=Plectin=WD(100=2.5),PF0068115=Plectin=WD(100=2.1),PF0068115=Plectin=WD(100=2.4),PF0068115=Plectin=WD(100=2.5),PF0068115=Plectin=WD(100=2.1),PF0068115=Plectin=WD(100=2.3),PF0068115=Plectin=WD(100=2.5)

							
C2:
PF0043516=Spectrin=PU(40.7=92.0)

						

					

				








    
Main Inclusion Isoform:
ENSP00000455823





     
                   









    
Main Skipping Isoform:
ENSP00000313438





     
      









    
Other Inclusion Isoforms:
ENSP00000289893, ENSP00000362006, ENSP00000455274
          









    
Other Skipping Isoforms:
ENSP00000354573, ENSP00000362016, ENSP00000437059, ENSP00000439537, ENSP00000444364
  



Associated events







Other assemblies


hg38




Conservation


Mouse
(mm10)
chr4:123471007-123476337 
ALTERNATIVE
MmuEX0027474
(Macf1)
Mouse
(mm9)
chr4:123148250-123153580 
ALTERNATIVE
MmuEX0027474
(Macf1)
Rat
(rn6)
chr5:141157139-141162457 
ALTERNATIVE
RnoEX6023208
(Macf1)
Cow
(bosTau6)
chr3:107298483-107303852 
ALTERNATIVE
BtaEX0021021
(MACF1)
Chicken
(galGal4)
chr23:5341431-5345067 
Chicken
(galGal3)
chr23:5656607-5660243 
Zebrafish
(danRer10)
chr19:22779430-22779727 
Fruitfly
(dm6)
No conservation detected




Primers PCR

	

		

			
Suggestions for RT-PCR validation

			

				
F: 
No suggested primer sequences

				
R: 
No suggested primer sequences

				
Band lengths: 

			

		

	





	
Functional annotations
(Submit an annotation)

	


There are 0 annotated functions for this event 


		










GENOMIC CONTEXT[edit]












INCLUSION PATTERN[edit]






SPECIAL DATASETS
  • The Cancer Genome Atlas (TCGA)
  • Genotype-Tissue Expression Project (GTEx)
  • Autistic and control brains
  • Pre-implantation embryo development






Retrieved from "https://vastdb.crg.eu/wiki/Special:VastDB"