HsaEX6056389 @ hg19
Exon Skipping
Gene
ENSG00000114841 | DNAH1
Description
dynein, axonemal, heavy chain 1 [Source:HGNC Symbol;Acc:2940]
Coordinates
chr3:52402757-52404245:+
Coord C1 exon
chr3:52402757-52402934
Coord A exon
chr3:52403841-52404035
Coord C2 exon
chr3:52404126-52404245
Length
195 bp
Sequences
Splice sites
3' ss Seq
TTGGTTCGTCTTGGCACCAGGCA
3' ss Score
4.41
5' ss Seq
GAGGTGAGT
5' ss Score
10.03
Exon sequences
Seq C1 exon
GACAGACGGGATATTCTCCTCGTTCATCCGGGCGGGGGCCATCACCTCCGACACCAACAAGAAGTGGTACATGTTCGATGGGCCGGTGGATGCCATCTGGATTGAGAACATGAACACGGTGCTGGATGACAACAAGAAGCTGTGCCTCAGCTCTGGGGAGATCATCAAGCTCACAGAG
Seq A exon
GCAATGACCATGATGTTCGAGGTGCAAGACCTGGCGGTGGCTTCACCAGCTACAGTCTCCCGCTGTGGCATGGTGTACCTGGAGCCCAGCATCCTGGGGCTCATGCCCTTCATCGAGTGCTGGCTGAGGAAGCTGCCTCCCTTGCTGAAGCCCTATGAGGAGCATTTCAAGGCCCTCTTTGTCAGCTTCCTGGAG
Seq C2 exon
GAATCCATCTCCTTCGTTCGGTCCTCAGTGAAGGAGGTGATCGCCTCAACCAACTGCAACCTGACCATGAGCCTCCTCAAGCTGCTGGACTGCTTCTTCAAGCCCTTTCTGCCTAGAGAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000114841-'44-45,'44-44,45-45=AN
Average complexity
A_S
Mappability confidence:
100%=100=100%
Protein Impact
Alternative protein isoforms (Ref)
No structure available
Features
Disorder rate (Iupred):
C1=0.000 A=0.000 C2=0.000
Domain overlap (PFAM):
C1:
PF077289=AAA_5=FE(40.1=100)
A:
PF077289=AAA_5=PD(14.3=32.3)
C2:
NO
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:
CCGACACCAACAAGAAGTGGT
R:
AGGCAGAAAGGGCTTGAAGAA
Band lengths:
245-440
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains
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)