HsaEX0020181 @ hg38
Exon Skipping
Gene
ENSG00000183914 | DNAH2
Description
dynein axonemal heavy chain 2 [Source:HGNC Symbol;Acc:HGNC:2948]
Coordinates
chr17:7801578-7804466:+
Coord C1 exon
chr17:7801578-7801710
Coord A exon
chr17:7801878-7802017
Coord C2 exon
chr17:7804256-7804466
Length
140 bp
Sequences
Splice sites
3' ss Seq
TCCTGTGTCACTGGCCTCAGATC
3' ss Score
7.24
5' ss Seq
GAAGTATGA
5' ss Score
3.33
Exon sequences
Seq C1 exon
GAACTGGATCCGCCAGTACCCAGCCTTGGTGAACTGCACAACCATCAACTGGTTCTCAGAGTGGCCCCAAGAGGCCCTGCTCGAGGTGGCTGAGAAGTGCCTCATAGGAGTAGACCTGGGAACTCAGGAGAAT
Seq A exon
ATCCACAGGAAGGTGGCCCAGATCTTTGTCACTATGCACTGGTCAGTAGCTCAGTATTCCCAGAAGATGCTGTTGGAACTGCGGAGACACAACTATGTCACACCCACCAAATACCTGGAACTCCTGTCTGGATATAAGAA
Seq C2 exon
GTTGCTGGGAGAAAAACGGCAGGAGCTGCTGGCCCAAGCCAATAAACTGCGGACAGGCTTGTTCAAGATCGACGAAACTAGGGAAAAGGTGCAAGTGATGTCGTTGGAGCTGGAGGATGCCAAGAAGAAGGTGGCTGAGTTCCAGAAGCAGTGTGAGGAGTACCTGGTCATCATTGTGCAGCAGAAGCGGGAGGCAGATGAGCAGCAGAAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000183914_CASSETTE8
Average complexity
S
Mappability confidence:
100%=100=100%
Protein Impact
ORF disruption upon sequence exclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.000 A=0.000 C2=0.042
Domain overlap (PFAM):
C1:
PF127802=AAA_8=FE(16.2=100)
A:
PF127802=AAA_8=FE(17.0=100)
C2:
PF127802=AAA_8=PD(0.7=2.8),PF127772=MT=PU(16.6=78.9)
Main Skipping Isoform:
NA
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Chicken
(galGal4)
No conservation detected
Chicken
(galGal3)
No conservation detected
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
AGTACCCAGCCTTGGTGAACT
R:
TCTTCTTGGCATCCTCCAGCT
Band lengths:
247-387
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