HsaEX0020180 @ hg38
Exon Skipping
Gene
ENSG00000183914 | DNAH2
Description
dynein axonemal heavy chain 2 [Source:HGNC Symbol;Acc:HGNC:2948]
Coordinates
chr17:7797680-7798718:+
Coord C1 exon
chr17:7797680-7797829
Coord A exon
chr17:7798157-7798324
Coord C2 exon
chr17:7798558-7798718
Length
168 bp
Sequences
Splice sites
3' ss Seq
CACACCCACCCCACCCCCAGTCA
3' ss Score
6.09
5' ss Seq
ATGGTACGG
5' ss Score
8.21
Exon sequences
Seq C1 exon
GGGATTTCCTGAAGGAGCCCAAGGTGTATGAAGACCTCACGGATCTGACAGTGCTGAAGACAGTCATGGAGACAGCTCTAAATGAGTATAACCTGTCACCCTCTGTCGTGCCCATGCAGCTAGTGCTCTTCCGAGAGGCTATTGAACACA
Seq A exon
TCACACGGATCGTGCGGGTCATTGGACAGCCTCGGGGCAACATGCTCCTGGTGGGTATCGGGGGCAGCGGACGCCAGAGTCTGGCCCGCCTGGCTTCATCCATCTGCGACTACACCACCTTCCAGATCGAGGTCACCAAACATTATCGGAAGCAGGAGTTCCGAGATG
Seq C2 exon
ATATCAAGCGTCTGTATCGCCAGGCTGGGGTGGAGCTCAAGACCACGTCCTTCATTTTTGTGGACACCCAAATAGCTGATGAGTCCTTCCTAGAGGACATCAACAACATCCTCAGCTCAGGCGAGGTGCCCAATCTCTACAAGCCTGATGAATTTGAAGAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000183914_CASSETTE7
Average complexity
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:
PF127802=AAA_8=PU(7.7=41.2)
A:
PF127802=AAA_8=FE(20.7=100)
C2:
PF127802=AAA_8=FE(19.6=100)
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:
AAGACCTCACGGATCTGACAGT
R:
GCCTGAGCTGAGGATGTTGTT
Band lengths:
242-410
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