HsaEX6047044 @ hg38
Exon Skipping
Gene
ENSG00000124721 | DNAH8
Description
dynein axonemal heavy chain 8 [Source:HGNC Symbol;Acc:HGNC:2952]
Coordinates
chr6:38868062-38872782:+
Coord C1 exon
chr6:38868062-38868196
Coord A exon
chr6:38870401-38870562
Coord C2 exon
chr6:38872536-38872782
Length
162 bp
Sequences
Splice sites
3' ss Seq
TTTAAACTATGCCACCTTAGGTT
3' ss Score
5.77
5' ss Seq
CAGGTAAAG
5' ss Score
9.65
Exon sequences
Seq C1 exon
GTTCATTATGACTTTGGATTGAGAAATATTCTGTCTGTATTGAGGACTCTTGGATCTCAAAAAAGAGCCAGACCAGAAGATAGTGAATTAAGCATTGTCATGAGAGGACTAAGAGATATGAACCTTTCCAAACTG
Seq A exon
GTTGATGAAGATGAACCCCTGTTCCTCAGCTTAATCAATGACCTGTTCCCAGGACTGCAACTGGATAGTAATACTTATGCAGAACTGCAAAACGCAGTAGCCCATCAGGTTCAGATAGAGGGTTTGATTAACCATCCACCCTGGAACCTGAAACTCGTGCAG
Seq C2 exon
TTATATGAGACGTCTTTGGTACGGCATGGCTTGATGACTCTTGGGCCCAGTGGTTCTGGAAAGACAACCGTTATCACGATTCTAATGAAGGCGCAAACAGAATGCGGAAGGCCTCATAGAGAAATGCGAATGAATCCAAAAGCCATTACTGCACCTCAGATGTTTGGCAGACTGGACACTGCTACCAATGACTGGACAGATGGGATTTTTTCTACTCTGTGGAGAAAAACATTAAAAGCTAAAAAAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000124721-'58-59,'58-58,60-59=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=0.133
Domain overlap (PFAM):
C1:
PF127742=AAA_6=PD(10.3=53.3)
A:
NO
C2:
PF077289=AAA_5=PU(53.3=88.0)
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:
AGAGCCAGACCAGAAGATAGTGA
R:
TCTGCCAAACATCTGAGGTGC
Band lengths:
243-405
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains