HsaEX6097393 @ hg38
Exon Skipping
Gene
ENSG00000039139 | DNAH5
Description
dynein axonemal heavy chain 5 [Source:HGNC Symbol;Acc:HGNC:2950]
Coordinates
chr5:13780829-13788914:-
Coord C1 exon
chr5:13788716-13788914
Coord A exon
chr5:13786179-13786351
Coord C2 exon
chr5:13780829-13780959
Length
173 bp
Sequences
Splice sites
3' ss Seq
ATTCTTATTTCCCACCAAAGGTG
3' ss Score
5.78
5' ss Seq
AAGGTACAG
5' ss Score
8.04
Exon sequences
Seq C1 exon
GATCTGTTAAAGCTGTGGAAGCATGAGTGTAAACGTGTTATAGCTGACCGTTTCACAGTGTCCAGTGATGTGACCTGGTTTGATAAGGCTTTAGTAAGTTTGGTAGAGGAGGAGTTTGGTGAAGAGAAAAAACTCTTGGTGGATTGTGGAATTGACACATATTTTGTGGATTTCTTGAGAGATGCACCTGAAGCTGCAG
Seq A exon
GTGAAACATCTGAAGAGGCTGATGCTGAAACACCTAAAATTTATGAGCCAATTGAATCTTTTAGTCACCTAAAAGAGCGTCTGAATATGTTCCTGCAGCTCTATAATGAGAGCATCCGTGGCGCCGGCATGGACATGGTGTTCTTTGCAGATGCCATGGTTCACTTAGTCAAG
Seq C2 exon
ATCTCTCGTGTCATTCGTACTCCTCAGGGAAATGCCCTCCTGGTCGGGGTGGGCGGATCAGGAAAGCAGAGCCTGACGAGGTTGGCTTCATTCATTGCTGGCTACGTTTCCTTCCAGATCACTCTGACGAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000039139-'73-73,'73-71,74-73=AN
Average complexity
A_C1
Mappability confidence:
100%=100=100%
Protein Impact
ORF disruption upon sequence exclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.015 A=0.172 C2=0.000
Domain overlap (PFAM):
C1:
PF127752=AAA_7=PD(2.9=11.9)
A:
PF127802=AAA_8=PU(8.4=39.7)
C2:
PF127802=AAA_8=FE(15.8=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:
TGTCCAGTGATGTGACCTGGT
R:
AGCCAGCAATGAATGAAGCCA
Band lengths:
244-417
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains