HsaEX6097397 @ hg38
Exon Skipping
Gene
ENSG00000039139 | DNAH5
Description
dynein axonemal heavy chain 5 [Source:HGNC Symbol;Acc:HGNC:2950]
Coordinates
chr5:13768960-13770980:-
Coord C1 exon
chr5:13770749-13770980
Coord A exon
chr5:13769501-13769615
Coord C2 exon
chr5:13768960-13769136
Length
115 bp
Sequences
Splice sites
3' ss Seq
GCTTGGATTTTCAATCCCAGAAT
3' ss Score
5.4
5' ss Seq
ATGGTGGGT
5' ss Score
6.18
Exon sequences
Seq C1 exon
TGTCTGAACACTTCCTCACTTCCTATGATATTGACTGCAGTTTGGAAATCAAGAAGGAGGTGGTCCAATGCATGGGCTCCTTCCAGGATGGGGTGGCTGAGAAGTGTGTTGATTATTTTCAGAGATTCCGACGTTCTACCCACGTGACGCCCAAATCATACCTCTCCTTTATTCAGGGCTATAAGTTCATATATGGAGAAAAGCATGTGGAGGTGCGGACCCTGGCCAACAG
Seq A exon
AATGAATACTGGATTGGAAAAGCTCAAAGAAGCTTCAGAGTCTGTTGCAGCCTTGAGTAAAGAACTGGAAGCGAAAGAAAAGGAGCTACAAGTGGCCAACGATAAAGCCGACATG
Seq C2 exon
GTCTTAAAAGAAGTGACAATGAAAGCACAGGCTGCTGAAAAGGTCAAGGCTGAGGTACAGAAGGTGAAGGACAGGGCCCAGGCCATTGTGGACAGCATCTCTAAAGACAAAGCCATTGCTGAAGAAAAACTGGAAGCAGCAAAACCAGCTTTAGAAGAGGCAGAAGCTGCATTGCAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000039139-'81-80,'81-79,82-80=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=0.000 A=0.000 C2=0.017
Domain overlap (PFAM):
C1:
PF127802=AAA_8=PD(23.4=82.1),PF127772=MT=PU(0.3=1.3)
A:
PF127772=MT=FE(10.9=100)
C2:
PF127772=MT=FE(16.6=100)
Main Skipping Isoform:
NA
Other Inclusion Isoforms:
NA
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Chicken
(galGal3)
No conservation detected
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
CCACGTGACGCCCAAATCATA
R:
AAGCTGGTTTTGCTGCTTCCA
Band lengths:
244-359
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains