HsaEX6097410 @ hg38
Exon Skipping
Gene
ENSG00000039139 | DNAH5
Description
dynein axonemal heavy chain 5 [Source:HGNC Symbol;Acc:HGNC:2950]
Coordinates
chr5:13721000-13729560:-
Coord C1 exon
chr5:13729439-13729560
Coord A exon
chr5:13727507-13727656
Coord C2 exon
chr5:13721000-13721245
Length
150 bp
Sequences
Splice sites
3' ss Seq
TTATCCCATGGTATTTTCAGATA
3' ss Score
6.8
5' ss Seq
CAGGTAAAA
5' ss Score
8.59
Exon sequences
Seq C1 exon
GAGGTGCCTCATTAGACCTTAAAGCTTGTCCTCCAAAACCATCAAAATGGATCCTGGACATAACATGGCTGAATTTGGTGGAACTTAGCAAACTCAGACAGTTTTCAGATGTCCTTGACCAG
Seq A exon
ATATCGAGAAATGAGAAAATGTGGAAAATTTGGTTTGATAAGGAAAACCCGGAGGAGGAACCTCTTCCAAATGCCTATGATAAATCTCTTGACTGCTTCAGACGTCTTCTCCTTATTAGATCCTGGTGTCCTGACAGAACCATCGCCCAG
Seq C2 exon
GCCCGCAAGTACATCGTGGACTCCATGGGAGAAAAATATGCCGAAGGTGTTATTTTAGACTTGGAGAAGACGTGGGAGGAATCTGATCCACGGACGCCACTCATCTGTCTCCTGTCTATGGGCTCAGACCCCACAGATTCCATCATTGCCTTGGGGAAGAGATTAAAAATAGAAACCCGTTATGTGTCCATGGGCCAGGGCCAGGAAGTCCATGCTCGGAAGCTCTTGCAGCAGACCATGGCGAAC
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000039139-'97-96,'97-95,98-96=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:
PF0302810=Dynein_heavy=PU(20.4=82.9)
A:
PF0302810=Dynein_heavy=FE(29.3=100)
C2:
PF0302810=Dynein_heavy=FE(11.6=100)
Main Skipping Isoform:
NA
Other Inclusion Isoforms:
NA
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
ACATGGCTGAATTTGGTGGAACT
R:
CTGGCCCATGGACACATAACG
Band lengths:
258-408
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains