HsaEX0020103 @ hg38
Exon Skipping
Gene
ENSG00000114841 | DNAH1
Description
dynein axonemal heavy chain 1 [Source:HGNC Symbol;Acc:HGNC:2940]
Coordinates
chr3:52350508-52353301:+
Coord C1 exon
chr3:52350508-52350590
Coord A exon
chr3:52351962-52352103
Coord C2 exon
chr3:52353103-52353301
Length
142 bp
Sequences
Splice sites
3' ss Seq
CCCACCCCCATCCCGGCCAGATG
3' ss Score
6.79
5' ss Seq
CAGGTGGGG
5' ss Score
6.92
Exon sequences
Seq C1 exon
GAGCGGATTGTGAAGGTCATGGATGACTACCAGGTCATGGATGAATTCCTCTACAACCTCAGCTCAGATGACTTCAATGACAA
Seq A exon
ATGGATTGCCAGCAACTGGCCTTCTAAGATCCTTGGGCAGATAGAGCTGGTGCAGCAGCAGCATGTGGAGGATGAGGAGAAGTTCCGCAAAATCCAGATCATGGATCAGAACAACTTCCAAGAGAAGCTGGAAGGGCTGCAG
Seq C2 exon
TATGACAAGCTCTCCAGGATGGTGAAGGAGTTCCAACCCTACCTGGACCTTTGGACCACAGCGTCTGACTGGCTGCGCTGGTCGGAGAGCTGGATGAATGACCCCCTCTCTGCCATCGATGCTGAGCAGCTGGAGAAGAACGTGGTTGAAGCCTTCAAGACCATGCACAAGTGCGTGAAGCAGTTTAAGGACATGCCAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000114841_MULTIEX4-1/6=C1-3
Average complexity
C2
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:
PF0240317=Seryl_tRNA_N=PD(18.8=67.9)
A:
NO
C2:
PF083938=DHC_N2=PU(15.8=97.0)
Main Skipping Isoform:
NA
Other Inclusion Isoforms:
NA
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
AGCGGATTGTGAAGGTCATGG
R:
TGTGCATGGTCTTGAAGGCTT
Band lengths:
251-393
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