HsaEX6020647 @ hg38
Exon Skipping
Gene
ENSG00000183914 | DNAH2
Description
dynein axonemal heavy chain 2 [Source:HGNC Symbol;Acc:HGNC:2948]
Coordinates
chr17:7807150-7816735:+
Coord C1 exon
chr17:7807150-7807319
Coord A exon
chr17:7807470-7807586
Coord C2 exon
chr17:7816571-7816735
Length
117 bp
Sequences
Splice sites
3' ss Seq
GCCTGACTGTCTCCCCACAGCTG
3' ss Score
11.38
5' ss Seq
GAGGTGAGC
5' ss Score
8.7
Exon sequences
Seq C1 exon
GGGAACAGAACTTCATCAAGTCACTGATCAACTTTGATAAAGACAATATCTCAGATAAGGTTCTGAAGAAGATTGGGGCCTACTGCGCCCAGCCTGACTTCCAGCCTGATATCATCGGCCGCGTCTCCCTGGCTGCCAAGTCCCTCTGCATGTGGGTGCGGGCCATGGAG
Seq A exon
CTGTATGGGCGGCTATATCGGGTGGTGGAGCCCAAGCGAATCCGAATGAACGCTGCCTTGGCTCAGCTTCGGGAGAAGCAAGCCGCGCTCGCTGAGGCCCAGGAGAAGCTGCGGGAG
Seq C2 exon
GTAGCTGAGAAACTGGAGATGCTAAAGAAACAGTATGATGAGAAGCTGGCACAGAAGGAGGAGCTTCGCAAGAAGTCTGAAGAGATGGAGCTGAAGCTGGAGCGAGCTGGGATGCTCGTGTCGGGGTTGGCTGGCGAGAAGGCCAGATGGGAGGAGACAGTCCAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000183914-'79-89,'79-87,80-89=AN
Average complexity
A_C1
Mappability confidence:
100%=100=100%
Protein Impact
Alternative protein isoforms (Ref)
No structure available
Features
Disorder rate (Iupred):
C1=0.000 A=0.026 C2=0.000
Domain overlap (PFAM):
C1:
PF127772=MT=FE(16.6=100)
A:
PF127772=MT=FE(11.3=100)
C2:
PF127772=MT=FE(16.0=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:
AGCCTGACTTCCAGCCTGATA
R:
GGACTGTCTCCTCCCATCTGG
Band lengths:
243-360
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains