Special

HsaEX0020199 @ hg38

Exon Skipping

Gene
Description
dynein axonemal heavy chain 6 [Source:HGNC Symbol;Acc:HGNC:2951]
Coordinates
chr2:84733444-84762945:+
Coord C1 exon
chr2:84733444-84733579
Coord A exon
chr2:84745080-84745249
Coord C2 exon
chr2:84762755-84762945
Length
170 bp
Sequences
Splice sites
3' ss Seq
TTTTTAAATTGTATTTCCAGGAT
3' ss Score
8.86
5' ss Seq
AAGGTAGGG
5' ss Score
8.76
Exon sequences
Seq C1 exon
GAACGCCCACCTAAGCCTGAAGCTCCCTGGCTACCTACTGCTACATGGTTCGCATGCTGTGACTTGGAAGAATCATTTCCAGTTTTTCACGGACTTACCCAAAATATATTGTCACATCCTATTTCCATACGCTTAG
Seq A exon
GATCTTTTGAGACTTATATTAACCCACAGAAATGGGAAGGCTATTCTAAAATGAAACACGAAGATAAACACATGAGACAGGAAAAGGAGGCAGCACACCAAGATCCATGGAGTGCAGGATTGAGTTCTTTCCATAAGCTAATTCTTATTAAATGTTGTAAAGAAGAAAAG
Seq C2 exon
GTGGTTTTTGCTCTTACAGACTTTGTGATAGAAAATCTTGGAAAACAGTTTATAGAGACACCACCTGTGGACCTGCCTACCCTGTATCAAGACATGTCATGCAACACTCCCCTGGTATTCATCCTAAGCACAGGCTCAGATCCCATGGGTGCATTTCAGAGGTTTGCCAGGGAAAGTGGATATTCAGAACG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000115423-'84-87,'84-85,85-87
Average complexity
S
Mappability confidence:
100%=100=100%
Protein Impact

ORF disruption upon sequence exclusion

No structure available
Features
Disorder rate (Iupred):
  C1=0.065 A=0.246 C2=0.000
Domain overlap (PFAM):

C1:
PF0302810=Dynein_heavy=FE(10.5=100)
A:
PF0302810=Dynein_heavy=FE(13.1=100)
C2:
PF0302810=Dynein_heavy=FE(14.7=100)


Main Inclusion Isoform:


Main Skipping Isoform:
NA


Other Inclusion Isoforms:


Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Cow
(bosTau6)
No conservation detected
Chicken
(galGal4)
No conservation detected
Chicken
(galGal3)
No conservation detected
Zebrafish
(danRer10)
HIGH PSI
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
ATGGTTCGCATGCTGTGACTT
R:
CCTCTGAAATGCACCCATGGG
Band lengths:
254-424
Functional annotations
There are 0 annotated functions for this event


GENOMIC CONTEXT[edit]

INCLUSION PATTERN[edit]


SPECIAL DATASETS

  • Autistic and control brains
  • Pre-implantation embryo development