HsaEX6047043 @ hg38
Exon Skipping
Gene
ENSG00000124721 | DNAH8
Description
dynein axonemal heavy chain 8 [Source:HGNC Symbol;Acc:HGNC:2952]
Coordinates
chr6:38870401-38873147:+
Coord C1 exon
chr6:38870401-38870562
Coord A exon
chr6:38872536-38872782
Coord C2 exon
chr6:38872906-38873147
Length
247 bp
Sequences
Splice sites
3' ss Seq
TTTACTGGTTAATTGTGTAGTTA
3' ss Score
3.05
5' ss Seq
AAGGTATAC
5' ss Score
7.64
Exon sequences
Seq C1 exon
GTTGATGAAGATGAACCCCTGTTCCTCAGCTTAATCAATGACCTGTTCCCAGGACTGCAACTGGATAGTAATACTTATGCAGAACTGCAAAACGCAGTAGCCCATCAGGTTCAGATAGAGGGTTTGATTAACCATCCACCCTGGAACCTGAAACTCGTGCAG
Seq A exon
TTATATGAGACGTCTTTGGTACGGCATGGCTTGATGACTCTTGGGCCCAGTGGTTCTGGAAAGACAACCGTTATCACGATTCTAATGAAGGCGCAAACAGAATGCGGAAGGCCTCATAGAGAAATGCGAATGAATCCAAAAGCCATTACTGCACCTCAGATGTTTGGCAGACTGGACACTGCTACCAATGACTGGACAGATGGGATTTTTTCTACTCTGTGGAGAAAAACATTAAAAGCTAAAAAAG
Seq C2 exon
GTGAAAACATTTTCCTCATTTTAGATGGTCCTGTGGATGCCATCTGGATTGAGAACTTAAATTCCGTTTTGGATGACAATAAAACTCTGACGTTAGCTAATGGAGATCGCATTCCCATGGCCCCTAGTTGTAAGCTTCTGTTTGAAGTCCACAATATCGAGAACGCCTCTCCTGCCACGGTTTCTAGGATGGGCATGGTCTATATCAGCAGCTCTGCTCTCAGCTGGAGGCCAATCTTACAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000124721-'60-60,'60-59,61-60
Average complexity
C3
Mappability confidence:
100%=100=100%
Protein Impact
ORF disruption upon sequence exclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.000 A=0.133 C2=0.000
Domain overlap (PFAM):
C1:
NO
A:
PF077289=AAA_5=PU(53.3=88.0)
C2:
PF077289=AAA_5=PD(46.0=77.8)
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:
GCAGTAGCCCATCAGGTTCAG
R:
AAGATTGGCCTCCAGCTGAGA
Band lengths:
307-554
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains