HsaEX6047013 @ hg38
Exon Skipping
Gene
ENSG00000124721 | DNAH8
Description
dynein axonemal heavy chain 8 [Source:HGNC Symbol;Acc:HGNC:2952]
Coordinates
chr6:38945467-38951520:+
Coord C1 exon
chr6:38945467-38945588
Coord A exon
chr6:38949452-38949570
Coord C2 exon
chr6:38951318-38951520
Length
119 bp
Sequences
Splice sites
3' ss Seq
AATTGGCTTGCTTCTTTTAGATA
3' ss Score
7.3
5' ss Seq
CAGGTGAGA
5' ss Score
9.22
Exon sequences
Seq C1 exon
GGGGAGCAGCTCTGGACCTGAAAGCCTGTCCTCCCAAACCCTATCGCTGGATCCTTGACATGACTTGGCTGAATCTTGTGGAGCTGAGTAAACTTCCACAATTTGCAGAAATTATGAACCAG
Seq A exon
ATATCTCGTAATGAGAAGGGGTGGAAAAGCTGGTTTGATAAAGATGCTCCAGAGGAGGAAATTATCCCTGATGGATATAATGATTCACTAGATACCTGCCATAAACTTTTACTTATCAG
Seq C2 exon
GTCTTGGTGCCCAGACCGTACTGTTTTTCAAGCAAGAAAGTATATTGCAGATTCTTTGGAGGAGAAGTACACAGAACCAGTTATCTTAAATCTGGAGAAAACTTGGGAAGAAAGTGATACCCGGACACCTCTGATATGCTTCCTGTCCATGGGATCTGACCCCACCAATCAAATTGATGCATTGGCCAAGAAACTGAAACTGG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000124721-'95-95,'95-94,96-95
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=0.000
Domain overlap (PFAM):
C1:
PF0302810=Dynein_heavy=PU(20.2=82.9)
A:
PF0302810=Dynein_heavy=FE(23.2=100)
C2:
PF0302810=Dynein_heavy=FE(12.0=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:
TCCCAAACCCTATCGCTGGAT
R:
GGTCAGATCCCATGGACAGGA
Band lengths:
252-371
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains