HsaEX6056374 @ hg38
Exon Skipping
Gene
ENSG00000114841 | DNAH1
Description
dynein axonemal heavy chain 1 [Source:HGNC Symbol;Acc:HGNC:2940]
Coordinates
chr3:52390935-52395466:+
Coord C1 exon
chr3:52390935-52391054
Coord A exon
chr3:52391179-52391328
Coord C2 exon
chr3:52395308-52395466
Length
150 bp
Sequences
Splice sites
3' ss Seq
CTTTTCCCCTTCCCTTACAGGAG
3' ss Score
12.99
5' ss Seq
CAGGTGGGT
5' ss Score
8.56
Exon sequences
Seq C1 exon
ATCGCTGGCCTCCCCAACGACACACTGTCAGTGGAGAACGGGGTCATCAACCAGTTTTCCCAGCGCTGGACCCACTTCATTGACCCTCAGAGCCAGGCCAACAAATGGATCAAGAACATG
Seq A exon
GAGAAGGACAATGGGCTGGATGTGTTCAAGTTGAGTGACCGCGACTTCCTGCGCAGCATGGAGAACGCCATCCGCTTTGGCAAGCCATGTCTCCTGGAGAACGTGGGCGAGGAGCTAGACCCAGCCCTGGAGCCAGTGCTGCTCAAGCAG
Seq C2 exon
ACAGCCAATCTGTCAGTGGTGTTCAAAGACTCCAACTCCACCACACCCCTCATCTTTGTGCTGTCACCCGGCACAGACCCTGCTGCCGACCTCTACAAGTTTGCCGAAGAAATGAAGTTCTCCAAAAAGCTCTCTGCCATCTCCCTGGGCCAGGGGCAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000114841_MULTIEX5-4/19=3-11
Average complexity
C2
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=0.000
Domain overlap (PFAM):
C1:
PF127812=AAA_9=FE(17.0=100)
A:
PF127812=AAA_9=FE(21.3=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:
CTGTCAGTGGAGAACGGGGTC
R:
AGGGAGATGGCAGAGAGCTTT
Band lengths:
242-392
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains