Special

HsaEX6056800 @ hg19

Exon Skipping

Gene
ENSG00000174844 | DNAH12
Description
dynein, axonemal, heavy chain 12 [Source:HGNC Symbol;Acc:2943]
Coordinates
chr3:57343694-57348659:-
Coord C1 exon
chr3:57348522-57348659
Coord A exon
chr3:57344745-57344978
Coord C2 exon
chr3:57343694-57343882
Length
234 bp
Sequences
Splice sites
3' ss Seq
TCATTTTTCCTTTGCTTCAGTTA
3' ss Score
8.87
5' ss Seq
AAGGTAATG
5' ss Score
8.99
Exon sequences
Seq C1 exon
GCCTGGGAGAAGTTACTGTTTGGAGTTTGTTTTTTTCATGCCCTTGTGCAAGAGAGAAAGAAATTTGGTCCTCTTGGTTGGAATATTCCATATGGATTTAATGAATCTGACTTGCGCATCAGTATCCGACAACTGCAG
Seq A exon
TTATTTATCAATGAATATGATACAATTCCATTTGAAGCTATATCTTACCTGACTGGGGAGTGTAATTATGGAGGAAGAGTGACAGACGATTGGGACAGACGTCTTCTATTAACCATGCTGGCTGACTTTTATAATCTGTACATAGTTGAAAACCCTCATTATAAGTTTTCTCCCAGTGGAAACTATTTTGCACCTCCTAAAGGCACTTATGAGGACTACATTGAATTCATTAAG
Seq C2 exon
AAACTTCCATTTACTCAACACCCTGAGATATTTGGATTACATGAAAACGTTGACATCTCCAAGGATCTTCAACAAACAAAAACCCTCTTTGAGTCCTTGCTCCTCACCCAGGGAGGCTCCAAACAGACAGGAGCCTCAGGAAGTACTGATCAGATTCTGTTAGAAATTACCAAAGATATCCTCAACAAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000174844-'56-57,'56-56,57-57=AN
Average complexity
A_S
Mappability confidence:
100%=100=100%
Protein Impact





	

	
Alternative protein isoforms (No Ref)





No structure available

		

			
Features


			

				
Disorder rate (Iupred):
  C1=0.000 A=0.000 C2=0.016
 
                        

				
Domain overlap (PFAM):

					





						

							
C1:
PF0302810=Dynein_heavy=FE(6.3=100)

							
A:
PF0302810=Dynein_heavy=PD(0.7=2.6),PF0302810=Dynein_heavy=FE(18.9=100)

							
C2:
PF0302810=Dynein_heavy=FE(15.2=100)

						

					

				








    
Main Inclusion Isoform:
ENSP00000295937





     
                   









    
Main Skipping Isoform:
NA





     
      









    
Other Inclusion Isoforms:
ENSP00000340464, ENSP00000420359, ENSP00000420554
          









    
Other Skipping Isoforms:
NA
  



Associated events






Other assemblies


hg38




Conservation


Mouse
(mm10)
chr14:26876769-26877002 
HIGH PSI
MmuEX6040082
(Dnah12)
Mouse
(mm9)
chr14:27689955-27690188 
HIGH PSI
MmuEX6040082
(Dnahc12)
Rat
(rn6)
chr16:2520063-2520296 
HIGH PSI
RnoEX6054476
(Dnah12)
Cow
(bosTau6)
chr22:44362990-44363223 
HIGH PSI
BtaEX6094419
([1])
Chicken
(galGal4)
chr12:8643997-8644230 
HIGH PSI
GgaEX6010307
([2])
Chicken
(galGal3)
chr12:8891375-8891608 
HIGH PSI
GgaEX6010307
([3])
Zebrafish
(danRer10)
chr23:19586426-19586659 
HIGH PSI
DreEX0027451
(dnah12)
Fruitfly
(dm6)
No conservation detected




Primers PCR

	

		

			
Suggestions for RT-PCR validation

			

				
F: 
GCCTGGGAGAAGTTACTGTTTGG

				
R: 
TCTGATCAGTACTTCCTGAGGCT

				
Band lengths: 
292-526

			

		

	





	
Functional annotations
(Submit an annotation)

	


There are 0 annotated functions for this event 


		










GENOMIC CONTEXT[edit]












INCLUSION PATTERN[edit]






SPECIAL DATASETS
  • Autistic and control brains






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