HsaEX6047042 @ hg38
Exon Skipping
Gene
ENSG00000124721 | DNAH8
Description
dynein axonemal heavy chain 8 [Source:HGNC Symbol;Acc:HGNC:2952]
Coordinates
chr6:38872536-38873376:+
Coord C1 exon
chr6:38872536-38872782
Coord A exon
chr6:38872906-38873147
Coord C2 exon
chr6:38873236-38873376
Length
242 bp
Sequences
Splice sites
3' ss Seq
TCTGTTTTAATTATTTTCAGGTG
3' ss Score
10.54
5' ss Seq
CAGGTGGGG
5' ss Score
6.92
Exon sequences
Seq C1 exon
TTATATGAGACGTCTTTGGTACGGCATGGCTTGATGACTCTTGGGCCCAGTGGTTCTGGAAAGACAACCGTTATCACGATTCTAATGAAGGCGCAAACAGAATGCGGAAGGCCTCATAGAGAAATGCGAATGAATCCAAAAGCCATTACTGCACCTCAGATGTTTGGCAGACTGGACACTGCTACCAATGACTGGACAGATGGGATTTTTTCTACTCTGTGGAGAAAAACATTAAAAGCTAAAAAAG
Seq A exon
GTGAAAACATTTTCCTCATTTTAGATGGTCCTGTGGATGCCATCTGGATTGAGAACTTAAATTCCGTTTTGGATGACAATAAAACTCTGACGTTAGCTAATGGAGATCGCATTCCCATGGCCCCTAGTTGTAAGCTTCTGTTTGAAGTCCACAATATCGAGAACGCCTCTCCTGCCACGGTTTCTAGGATGGGCATGGTCTATATCAGCAGCTCTGCTCTCAGCTGGAGGCCAATCTTACAG
Seq C2 exon
GCATGGTTGAAGAAACGCACTGCACAGGAAGCTGCTGTATTCCTGACACTGTATGAGAAAGTCTTTGAAGATACATACACATATATGAAGCTAAATCTCAATCCCAAAATGCAGCTCTTGGAGTGCAACTATATTGTGCAA
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000124721-'61-61,'61-60,62-61=AN
Average complexity
A_S
Mappability confidence:
100%=100=100%
Protein Impact
ORF disruption upon sequence exclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.133 A=0.000 C2=0.000
Domain overlap (PFAM):
C1:
PF077289=AAA_5=PU(53.3=88.0)
A:
PF077289=AAA_5=PD(46.0=77.8)
C2:
NO
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:
ATGAAGGCGCAAACAGAATGC
R:
TAGTTGCACTCCAAGAGCTGC
Band lengths:
294-536
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains