HsaEX0020099 @ hg38
Exon Skipping
Gene
ENSG00000114841 | DNAH1
Description
dynein axonemal heavy chain 1 [Source:HGNC Symbol;Acc:HGNC:2940]
Coordinates
chr3:52316319-52326314:+
Coord C1 exon
chr3:52316319-52316545
Coord A exon
chr3:52322409-52322775
Coord C2 exon
chr3:52326140-52326314
Length
367 bp
Sequences
Splice sites
3' ss Seq
ACGCTGGGTTCTTCTCCTAGGAG
3' ss Score
7.89
5' ss Seq
GGGGTGAGT
5' ss Score
7.93
Exon sequences
Seq C1 exon
GGGGGGTACCCAACCTATACGCAGACCCATTGAGCAGCCAGACTGCCCTAAACAGGGCTATGGAGTCCTTGTCCCTTCTAAGAGCTGTGGACACCTTGCCTCCAGTTCCCCTCACAGTCCTTTCTTCCTTCTGCAGTGATCACTGAGTACCTGTGTGAATGCCAACAAGAAAAATAAAACCACAGTTTGGATTCAGGAAAGGTTGCACCACCATCAGGTCTTGAAGG
Seq A exon
GAGCTTCGGCTGGGGCATCTCCCTGAGAAGCAGCATGGAGCAGCCTAACAGTAAAGGCTATAGCCTGGGAAGGACCCCTCAGGGCCCAGAGTGCAGCAGTGCTCCTGCAGTCCAAGTGGGGACCCACAGGGGCCTAGAGTATAACCCGGGGAAGATTCTTCCAGGATCAGACTATGGGTTGGGAAATCCTCCAGCCCTTGACCCCAAGCTCCCACATTTACCCCTGCCCCCGGCCCCACCCACACTCTCAGACTTGGGGCAGCCACGGAAGTCACCCCTGACAGGCACTGATAAGAAGTACCCGCTGATGAAGCAGCGTGGGTTCTACTCCGACATCCTCAGCCCTGGAACCTTAGATCAACTTGGG
Seq C2 exon
TCGGAAGCTTTGAGGTTCCTGAAGACTTCCAGGAGCGCATGGAGCAGCAGTGCATCGGGTCCACCACCCGGCTGCTCGCCCAGACTGACTTCCCACTGCAGGCCTACGAGCCCAAGATGCAGGTGCCTTTCCAGGTGCTGCCAGGCCAGCATCCTCGCAAGATTGAGATCGAGAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000114841_MULTIEX2-3/4=C1-C2
Average complexity
C3*
Mappability confidence:
100%=100=100%
Protein Impact
In the CDS, with uncertain impact
No structure available
Features
Disorder rate (Iupred):
C1=NA A=0.838 C2=0.305
Domain overlap (PFAM):
C1:
NA
A:
NO
C2:
NO
Main Skipping Isoform:
NA
Other Inclusion Isoforms:
NA
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Cow
(bosTau6)
No conservation detected
Chicken
(galGal4)
No conservation detected
Chicken
(galGal3)
No conservation detected
Zebrafish
(danRer10)
No conservation detected
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
ATACGCAGACCCATTGAGCAG
R:
CTGGAAAGGCACCTGCATCTT
Band lengths:
345-712
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Genotype-Tissue Expression Project (GTEx)
- Autistic and control brains
- Pre-implantation embryo development