HsaEX0020092 @ hg19
Exon Skipping
Gene
ENSG00000114841 | DNAH1
Description
dynein, axonemal, heavy chain 1 [Source:HGNC Symbol;Acc:2940]
Coordinates
chr3:52431723-52433217:+
Coord C1 exon
chr3:52431723-52431893
Coord A exon
chr3:52432048-52432178
Coord C2 exon
chr3:52432866-52433217
Length
131 bp
Sequences
Splice sites
3' ss Seq
GTATTCCTTTGCCCCTGCAGATA
3' ss Score
11.3
5' ss Seq
TAGGTAATC
5' ss Score
5.91
Exon sequences
Seq C1 exon
GGCTACCTCTCCTACATCAAGAGCCTCCCACTCAATGATATGCCTGAGATCTTTGGCCTGCATGACAATGCCAACATCACCTTTGCCCAGAACGAGACGTTCGCCCTCCTGGGCACCATCATCCAGCTGCAACCCAAATCATCTTCTGCAGGCAGCCAGGGCCGGGAGGAG
Seq A exon
ATAGTGGAGGACGTCACCCAAAACATTCTGCTCAAGGTGCCTGAGCCTATCAACTTGCAATGGGTGATGGCCAAGTACCCAGTGCTGTATGAGGAATCAATGAACACAGTACTAGTACAAGAGGTCATTAG
Seq C2 exon
GTACAATCGGCTGCTGCAGGTGATCACACAGACACTGCAAGACCTACTCAAGGCACTCAAGGGGCTGGTAGTGATGTCCTCTCAGCTGGAGCTGATGGCTGCCAGCCTGTACAACAATACTGTGCCTGAGCTCTGGAGTGCCAAGGCCTACCCATCGCTCAAGCCTCTGTCATCATGGGTCATGGACCTGCTGCAACGCCTGGACTTTCTGCAGGCCTGGATCCAAGATGGCATCCCAGCTGTCTTCTGGATCAGTGGATTCTTCTTCCCCCAGGCTTTCTTAACAGGCACTCTGCAGAATTTTGCCCGCAAATTTGTCATCTCCATTGACACCATCTCCTTTGATTTCAAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000114841_CASSETTE8
Average complexity
S
Mappability confidence:
100%=100=100%
Protein Impact
ORF disruption upon sequence exclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.101 A=0.000 C2=0.071
Domain overlap (PFAM):
C1:
PF0302810=Dynein_heavy=FE(12.4=100)
A:
PF0302810=Dynein_heavy=FE(6.1=100)
C2:
PF0302810=Dynein_heavy=FE(16.5=100)
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:
AATCATCTTCTGCAGGCAGCC
R:
GATCCAGGCCTGCAGAAAGTC
Band lengths:
258-389
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
Other AS DBs:
FasterDB (Includes CLIP-seq data)
AS-ALPS (AS-induced ALteration of Protein Structure, links to PINs)
APPRIS (Selection of principal isoform)
DEU primates (Only for human)