HsaEX6056369 @ hg38
Exon Skipping
Gene
ENSG00000114841 | DNAH1
Description
dynein axonemal heavy chain 1 [Source:HGNC Symbol;Acc:HGNC:2940]
Coordinates
chr3:52394465-52395466:+
Coord C1 exon
chr3:52394465-52394661
Coord A exon
chr3:52394915-52395059
Coord C2 exon
chr3:52395308-52395466
Length
145 bp
Sequences
Splice sites
3' ss Seq
GGTGTGGGCCACTGTTGCAGGGA
3' ss Score
4.3
5' ss Seq
CAGGCAAGT
5' ss Score
3.1
Exon sequences
Seq C1 exon
AGTGAGTGGCGATACCTCCTGTCTGGGGGCTCCATCTCGATCATGACTGAGAATCCGGCACCGGACTGGCTGTCAGACCGGGCTTGGCGAGACATCCTAGCACTCTCGAACCTGCCAACCTTTTCCTCCTTCTCTTCCGACTTCGTGAAGCACCTCTCAGAATTCCGGGTCATCTTCGACAGCCTTGAGCCCCACCG
Seq A exon
GGAGCCTTTGCCTGGCATCTGGGACCAGTACCTAGACCAGTTCCAGAAGCTGCTAGTCCTCCGCTGCCTGCGTGGGGACAAGGTTACCAACGCCATGCAGGACTTTGTGGCCACCAACCTGGAGCCACGCTTCATTGAACCCCAG
Seq C2 exon
ACAGCCAATCTGTCAGTGGTGTTCAAAGACTCCAACTCCACCACACCCCTCATCTTTGTGCTGTCACCCGGCACAGACCCTGCTGCCGACCTCTACAAGTTTGCCGAAGAAATGAAGTTCTCCAAAAAGCTCTCTGCCATCTCCCTGGGCCAGGGGCAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000114841_MULTIEX5-10/19=9-11
Average complexity
S*
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(12.0=81.8)
A:
PF0302810=Dynein_heavy=FE(10.6=100)
C2:
PF0302810=Dynein_heavy=FE(11.5=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:
GAGTGGCGATACCTCCTGTCT
R:
AAAGATGAGGGGTGTGGTGGA
Band lengths:
251-396
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains