HsaEX6097389 @ hg38
Exon Skipping
Gene
ENSG00000039139 | DNAH5
Description
dynein axonemal heavy chain 5 [Source:HGNC Symbol;Acc:HGNC:2950]
Coordinates
chr5:13793515-13807725:-
Coord C1 exon
chr5:13807591-13807725
Coord A exon
chr5:13793936-13794058
Coord C2 exon
chr5:13793515-13793728
Length
123 bp
Sequences
Splice sites
3' ss Seq
AGTTGATTTTTTTTTCACAGAGG
3' ss Score
6.91
5' ss Seq
CAGGTATCA
5' ss Score
7.33
Exon sequences
Seq C1 exon
GCTGTGCTATTAATTGGTGAACAAGGAACAGCCAAAACAGTAATAATTAAAGGATTTATGTCAAAATATGATCCTGAATGTCACATGATCAAGAGTCTGAATTTTTCTTCTGCAACCACCCCACTGATGTTCCAG
Seq A exon
AGGACGATAGAGAGCTATGTGGATAAACGAATGGGTACAACATATGGCCCTCCTGCGGGAAAGAAGATGACTGTTTTTATTGATGATGTGAATATGCCAATAATCAATGAGTGGGGAGATCAG
Seq C2 exon
GTTACGAATGAGATAGTGCGACAGCTGATGGAACAAAATGGATTCTATAATCTAGAGAAGCCTGGGGAGTTCACCAGCATCGTGGACATCCAGTTTTTGGCAGCCATGATCCATCCTGGTGGTGGACGCAATGACATACCCCAAAGACTCAAGAGGCAGTTCTCTATATTTAATTGCACGTTGCCCTCTGAAGCTTCTGTGGACAAGATCTTTG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000039139-'68-68,'68-67,70-68=AN
Average complexity
A_C1
Mappability confidence:
100%=100=100%
Protein Impact
Alternative protein isoforms (Ref)
No structure available
Features
Disorder rate (Iupred):
C1=0.000 A=0.005 C2=0.000
Domain overlap (PFAM):
C1:
PF127752=AAA_7=FE(16.2=100)
A:
PF127752=AAA_7=FE(14.7=100)
C2:
PF127752=AAA_7=FE(26.1=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:
TGGTGAACAAGGAACAGCCAA
R:
TCCACCACCAGGATGGATCAT
Band lengths:
247-370
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains