HsaEX6097387 @ hg19
Exon Skipping
Gene
ENSG00000039139 | DNAH5
Description
dynein, axonemal, heavy chain 5 [Source:HGNC Symbol;Acc:2950]
Coordinates
chr5:13807700-13810369:-
Coord C1 exon
chr5:13810168-13810369
Coord A exon
chr5:13809153-13809295
Coord C2 exon
chr5:13807700-13807834
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-'46-48,'46-47,47-48=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
Other AS DBs:
FasterDB (Includes CLIP-seq data)
AS-ALPS (AS-induced ALteration of Protein Structure, links to PINs)
APPRIS (Selection of principal isoform)
DEU primates (Only for human)