HsaEX6097387 @ hg38
Exon Skipping
Gene
ENSG00000039139 | DNAH5
Description
dynein axonemal heavy chain 5 [Source:HGNC Symbol;Acc:HGNC:2950]
Coordinates
chr5:13807591-13810260:-
Coord C1 exon
chr5:13810059-13810260
Coord A exon
chr5:13809044-13809186
Coord C2 exon
chr5:13807591-13807725
Length
143 bp
Sequences
Splice sites
3' ss Seq
ATGTCCTCTGCTCACCTTAGGTA
3' ss Score
8.93
5' ss Seq
AAGGTATGA
5' ss Score
9.11
Exon sequences
Seq C1 exon
GAGCAAGGCGGGGAGGTGAGCCAGGCTCACCTGGGGCGGCTGTTCGTGTTCGCGCTGCTGTGGAGCGCGGGGGCGGCGCTGGAGCTGGACGGACGGCGCCGCCTGGAGCTCTGGCTGCGCTCTCGGCCCACAGGGACGCTGGAGCTGCCGCCGCCAGCGGGGCCCGGGGACACCGCCTTCGACTACTATGTGGCGCCCGATG
Seq A exon
GTACATGGACGCACTGGAACACGCGTACCCAGGAATACCTGTATCCGTCTGATACCACCCCAGAGTATGGTTCTATTCTGGTGCCAAATGTTGACAATGTGAGGACTGACTTTCTAATTCAAACCATTGCTAAACAGGGCAAG
Seq C2 exon
GCTGTGCTATTAATTGGTGAACAAGGAACAGCCAAAACAGTAATAATTAAAGGATTTATGTCAAAATATGATCCTGAATGTCACATGATCAAGAGTCTGAATTTTTCTTCTGCAACCACCCCACTGATGTTCCAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000039139-'65-64,'65-63,66-64=AN
Average complexity
A_S
Mappability confidence:
100%=100=100%
Protein Impact
ORF disruption upon sequence exclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.074 A=0.000 C2=0.000
Domain overlap (PFAM):
C1:
NO
A:
PF127752=AAA_7=PU(11.0=62.5)
C2:
PF127752=AAA_7=FE(16.2=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:
CTGGAGCTGGACGGACGG
R:
GTGGGGTGGTTGCAGAAGAAA
Band lengths:
248-391
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains