HsaEX6056410 @ hg38
Exon Skipping
Gene
ENSG00000114841 | DNAH1
Description
dynein axonemal heavy chain 1 [Source:HGNC Symbol;Acc:HGNC:2940]
Coordinates
chr3:52331148-52344647:+
Coord C1 exon
chr3:52331148-52331309
Coord A exon
chr3:52332142-52332394
Coord C2 exon
chr3:52344490-52344647
Length
253 bp
Sequences
Splice sites
3' ss Seq
CCCTCTCACCCGGCCCCCAGGAA
3' ss Score
10
5' ss Seq
CTCGTGAGT
5' ss Score
8.41
Exon sequences
Seq C1 exon
AGGACCCCAAGAGTCAGAAGCTGAAGTACAAATGGTGCGAGGTCGGCGTCCTGGACTACGACGAGGAGAAGAAGCTATACCTGGTACACAAGACAGACGAGAAAGGCCTGGTGCGAGATGAGATGGGGAGGCCCATCCTGAATGCAGGGGTCACCACTGAAG
Seq A exon
GAAGGCCACCCCTTCAGGTCTGTCAGTACTGGGTGCCACGGATCCAGCTTCTCTTCTGCGCTGAGGACCCTTGCATGTTCGCACAACGTGTGGTCCAGGCCAACGCCCTGCGCAAGAACACGGAAGCACTGCTGCTCTACAACTTGTATGTGGACTGCATGCCCTCTGACGGCCAGCATGTCATCAGTGAACAGAGCCTGAGCAAGATCAAGCAGTGGGCCCTGAGCACGCCTCGGATGCGCAAAGGCCCCTC
Seq C2 exon
GGTTCTAGAGCACCTCAGCAGTCTTGCCAGAGAAGTGAGCCTGGACTATGAGCGCAGCATGAACAAGATCAACTTTGACCACGTTGTCTCTTCCAAGCCCGAGACCTTCTCCTACGTCACCCTCCCCAAGAAGGAGGAGGAGCAGGTGCCTGAGCGAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000114841-'12-19,'12-15,13-19
Average complexity
S
Mappability confidence:
100%=100=100%
Protein Impact
ORF disruption upon sequence exclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.055 A=0.000 C2=0.000
Domain overlap (PFAM):
C1:
NO
A:
NO
C2:
NO
Main Skipping Isoform:
NA
Other Inclusion Isoforms:
NA
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Zebrafish
(danRer10)
No conservation detected
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
ACCCCAAGAGTCAGAAGCTGA
R:
CTTCTTGGGGAGGGTGACGTA
Band lengths:
292-545
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains