HsaEX6047021 @ hg38
Exon Skipping
Gene
ENSG00000124721 | DNAH8
Description
dynein axonemal heavy chain 8 [Source:HGNC Symbol;Acc:HGNC:2952]
Coordinates
chr6:38923058-38926210:+
Coord C1 exon
chr6:38923058-38923185
Coord A exon
chr6:38923991-38924162
Coord C2 exon
chr6:38926055-38926210
Length
172 bp
Sequences
Splice sites
3' ss Seq
GCTGTGTGTTTTCTTCACAGACT
3' ss Score
10.2
5' ss Seq
ACTGTAAGT
5' ss Score
8.59
Exon sequences
Seq C1 exon
GATTTGCTTAATGACGCTGATACGTGCCGGAAAAAGATGCAGGCCGCCTCCACTCTCATCGATGGGCTGAGTGGAGAAAAAATCCGGTGGACCCAGCAAAGTAAAGAATTCAAAGCTCAGATTAATAG
Seq A exon
ACTTGTAGGTGATATTCTGCTGTGCACGGGATTCCTTTCCTACCTTGGTCCTTTCAATCAGATATTTAGGAACTATTTGCTTAAAGATCAATGGGAAATGGAGTTGAGAGCACGGAAAATTCCTTTCACAGAAAACCTGAATCTTATTTCAATGTTGGTGGATCCTCCAACT
Seq C2 exon
ATTGGTGAGTGGGGGCTACAGGGATTACCAGGAGATGATCTCTCAATTCAGAATGGCATTATTGTGACAAAGGCCACCAGATACCCACTCCTCATAGACCCACAAACTCAAGGCAAAACTTGGATTAAATCAAAGGAAAAAGAAAATGATTTACAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000124721-'87-87,'87-85,88-87
Average complexity
C2
Mappability confidence:
100%=100=100%
Protein Impact
ORF disruption upon sequence exclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.000 A=0.000 C2=0.038
Domain overlap (PFAM):
C1:
PF127772=MT=FE(12.0=100)
A:
PF127772=MT=PD(10.0=60.3),PF127812=AAA_9=PU(2.6=10.3)
C2:
PF127812=AAA_9=FE(22.1=100)
Main Skipping Isoform:
NA
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
TTTGCTTAATGACGCTGATACG
R:
TTGCCTTGAGTTTGTGGGTCT
Band lengths:
242-414
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains