HsaEX0020101 @ hg19
Exon Skipping
Gene
ENSG00000114841 | DNAH1
Description
dynein, axonemal, heavy chain 1 [Source:HGNC Symbol;Acc:2940]
Coordinates
chr3:52398849-52400903:+
Coord C1 exon
chr3:52398849-52399035
Coord A exon
chr3:52400473-52400564
Coord C2 exon
chr3:52400749-52400903
Length
92 bp
Sequences
Splice sites
3' ss Seq
CCCCATGCCATGTCCCCCAGGCT
3' ss Score
6.8
5' ss Seq
ACTGTAAGC
5' ss Score
4.95
Exon sequences
Seq C1 exon
GAGCTGATCTGCCTCCGGGCCATCCGTGATGTGAACGTGCCCAAGTTCCTGCAGGAGGACCTCAAGCTCTTCTCTGGCATCGTGTCCGACCTGTTTCCCACCATCAAGGAGGAGGACACGGACTACGGCATCCTGGATGAGGCCATCCGCGAGGCCTGCAGGAACAGCAACCTCAAGGATGTGGAGG
Seq A exon
GCTTCCTGACAAAGTGCATCCAGCTCTACGAGACCACGGTGGTACGACACGGCCTCATGCTCGTCGGGCCCACAGGCTCCGGCAAGAGTACT
Seq C2 exon
TGTTACAGAGTCCTGGCAGCTGCCATGACGTCACTGAAAGGGCAGCCATCCATCAGTGGTGGCATGTACGAGGCTGTCAACTACTACGTGCTCAACCCCAAGTCCATCACGATGGGCCAGCTGTACGGGGAGTTTGACCTCCTCACCCATGAGTG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000114841_MULTIEX3-1/2=C1-2
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=0.000
Domain overlap (PFAM):
C1:
NO
A:
PF077289=AAA_5=PU(8.8=41.9)
C2:
PF077289=AAA_5=FE(34.7=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:
ACCTCAAGCTCTTCTCTGGCA
R:
CCTTTCAGTGACGTCATGGCA
Band lengths:
170-262
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
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)