HsaEX6097406 @ hg38
Exon Skipping
Gene
ENSG00000039139 | DNAH5
Description
dynein axonemal heavy chain 5 [Source:HGNC Symbol;Acc:HGNC:2950]
Coordinates
chr5:13735818-13751260:-
Coord C1 exon
chr5:13751078-13751260
Coord A exon
chr5:13737252-13737495
Coord C2 exon
chr5:13735818-13735932
Length
244 bp
Sequences
Splice sites
3' ss Seq
ATATTTATGCAAATTAATAGGAA
3' ss Score
3.4
5' ss Seq
CTGGTGAGT
5' ss Score
10.1
Exon sequences
Seq C1 exon
GTGAAAGTTGGTGACAAGGAAGTAGATGTGTTGGATGGCTTTAGACTCTACATTACCACCAAATTGCCTAACCCAGCCTACACCCCTGAGATAAGTGCCCGTACCTCCATCATTGACTTCACTGTCACCATGAAAGGTCTAGAAGATCAGTTACTGGGGAGGGTCATTCTCACAGAGAAGCAG
Seq A exon
GAATTGGAGAAAGAAAGAACTCATCTGATGGAAGATGTAACTGCAAACAAAAGAAGGATGAAGGAACTAGAAGATAACTTGCTTTACCGCCTGACAAGTACCCAGGGGTCCCTGGTAGAAGATGAAAGTCTCATTGTCGTGCTGAGTAACACAAAAAGGACAGCCGAGGAGGTGACACAGAAGCTAGAAATTTCTGCTGAGACAGAAGTTCAAATTAACTCAGCCCGGGAGGAATACAGACCTG
Seq C2 exon
TGGCTACGCGGGGCAGCATCCTCTACTTCCTCATTACTGAGATGCGCTTGGTTAATGAGATGTATCAGACTTCGCTTCGCCAGTTTCTGGGCTTATTTGACCTTTCCTTAGCCAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000039139_CASSETTE2
Average complexity
S
Mappability confidence:
100%=100=100%
Protein Impact
ORF disruption upon sequence exclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.000 A=0.146 C2=0.000
Domain overlap (PFAM):
C1:
PF127812=AAA_9=FE(26.0=100)
A:
PF127812=AAA_9=PD(25.1=70.7)
C2:
NO
Main Skipping Isoform:
ENST00000265104fB13984
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:
TGGTGACAAGGAAGTAGATGTGT
R:
AAGGAAAGGTCAAATAAGCCCAGA
Band lengths:
284-528
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains