HsaEX0020091 @ hg38
Exon Skipping
Gene
ENSG00000114841 | DNAH1
Description
dynein axonemal heavy chain 1 [Source:HGNC Symbol;Acc:HGNC:2940]
Coordinates
chr3:52391179-52392689:+
Coord C1 exon
chr3:52391179-52391328
Coord A exon
chr3:52391443-52391603
Coord C2 exon
chr3:52392464-52392689
Length
161 bp
Sequences
Splice sites
3' ss Seq
ACCGGTCCCACCCACCACAGACG
3' ss Score
6.87
5' ss Seq
CAGGTGAGC
5' ss Score
9.6
Exon sequences
Seq C1 exon
GAGAAGGACAATGGGCTGGATGTGTTCAAGTTGAGTGACCGCGACTTCCTGCGCAGCATGGAGAACGCCATCCGCTTTGGCAAGCCATGTCTCCTGGAGAACGTGGGCGAGGAGCTAGACCCAGCCCTGGAGCCAGTGCTGCTCAAGCAG
Seq A exon
ACGTACAAGCAGCAGGGAAACACGGTGCTGAAGCTGGGGGACACGGTGATCCCCTACCATGAGGACTTCAGGATGTACATCACCACCAAGCTGCCCAACCCACACTACACGCCCGAGATCTCCACCAAACTCACCCTCATCAACTTCACCCTGTCGCCCAG
Seq C2 exon
TGGCCTAGAGGACCAGCTACTGGGCCAGGTAGTGGCAGAGGAGCGACCCGACCTGGAGGAGGCCAAGAACCAGCTGATTATCAGTAATGCCAAGATGCGCCAGGAGCTGAAGGACATTGAGGACCAGATCCTGTACCGGCTCAGCTCCTCCGAGGGCAACCCTGTAGATGACATGGAACTCATCAAGGTGCTGGAAGCCTCCAAGATGAAGGCTGCTGAGATCCAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000114841_MULTIEX5-5/19=4-6
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=0.017
Domain overlap (PFAM):
C1:
PF127812=AAA_9=FE(21.3=100)
A:
PF127812=AAA_9=FE(23.0=100)
C2:
PF127812=AAA_9=FE(32.6=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:
AAGTTGAGTGACCGCGACTTC
R:
CAATGTCCTTCAGCTCCTGGC
Band lengths:
242-403
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- The Cancer Genome Atlas (TCGA)
- Genotype-Tissue Expression Project (GTEx)
- Autistic and control brains
- Pre-implantation embryo development