HsaEX6020633 @ hg38
Exon Skipping
Gene
ENSG00000183914 | DNAH2
Description
dynein axonemal heavy chain 2 [Source:HGNC Symbol;Acc:HGNC:2948]
Coordinates
chr17:7824537-7830842:+
Coord C1 exon
chr17:7824537-7824727
Coord A exon
chr17:7830300-7830491
Coord C2 exon
chr17:7830658-7830842
Length
192 bp
Sequences
Splice sites
3' ss Seq
TTATATTTCATTGTCCCCAGGGC
3' ss Score
10.28
5' ss Seq
GAGGTTTGC
5' ss Score
3.52
Exon sequences
Seq C1 exon
GACACTGGGTGTTCCTGGCAAACTGCCACCTGTCACTGTCTTGGATGCCTAATCTGGACAAGCTGGTGGAGCAGCTGCAGGTGGAGGATCCTCATCCATCCTTCCGCCTCTGGCTCAGCTCCATCCCCCACCCAGACTTCCCTATCTCAATCTTGCAGGTCAGCATCAAGATGACCACAGAGCCACCAAAG
Seq A exon
GGCCTAAAGGCCAACATGACACGTCTTTACCAACTGATGTCAGAACCACAGTTTTCCCGCTGCTCCAAACCTGCCAAATATAAGAAGCTGCTGTTTTCACTCTGTTTCTTCCACTCTGTGTTACTTGAACGCAAAAAGTTCCTGCAGCTTGGCTGGAACATCATCTATGGCTTCAATGACTCCGACTTTGAG
Seq C2 exon
GTGTCAGAAAACTTGCTGAGCCTCTATCTCGATGAGTACGAGGAGACACCTTGGGACGCACTTAAGTACCTCATTGCCGGCATCAACTATGGTGGACATGTCACAGATGACTGGGACCGGCGCCTGCTGACCACCTACATCAATGATTATTTCTGTGACCAGTCTCTATCAACTCCCTTCCACCG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000183914-'99-110,'99-109,101-110=AN
Average complexity
A_S
Mappability confidence:
100%=100=100%
Protein Impact
Alternative protein isoforms (Ref)
No structure available
Features
Disorder rate (Iupred):
C1=0.000 A=0.000 C2=0.000
Domain overlap (PFAM):
C1:
PF0302810=Dynein_heavy=FE(12.8=100)
A:
PF0302810=Dynein_heavy=FE(12.8=100)
C2:
PF0302810=Dynein_heavy=FE(12.4=100)
Main Skipping Isoform:
NA
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Chicken
(galGal3)
No conservation detected
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
CCTGTCACTGTCTTGGATGCC
R:
TTGATGCCGGCAATGAGGTAC
Band lengths:
249-441
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains