HsaEX6056795 @ hg38
Exon Skipping
Gene
ENSG00000174844 | DNAH12
Description
dynein axonemal heavy chain 12 [Source:HGNC Symbol;Acc:HGNC:2943]
Coordinates
chr3:57323469-57334940:-
Coord C1 exon
chr3:57334782-57334940
Coord A exon
chr3:57334465-57334609
Coord C2 exon
chr3:57323469-57323619
Length
145 bp
Sequences
Splice sites
3' ss Seq
CTTAAGCTTTTTTCTATTAGGCA
3' ss Score
4.67
5' ss Seq
AAGGTAAAA
5' ss Score
8.38
Exon sequences
Seq C1 exon
GGCAAGGAAAGAGATTGAATACCAGGAACTGATGTTTCTTTTAACTGGAGGAGTAAGTCTTAAAAGTGCTGAGAAAAATCCTGATCCAACTTGGCTACAGGACAAAAGCTGGGAGGAAATCTGTCGGGCAAGTGAATTTCCTGCCTTCAGAGGACTCAG
Seq A exon
GCAACATTTTTGTGAACATATATATGAATGGCGAGAAATCTATGACAGTAAAGAGCCACATAATGCTAAATTTCCAGCACCAATGGATAAGAACCTAAATGAACTACAGAAAATAATAATTCTTCGGTGTTTAAGACCTGATAAG
Seq C2 exon
ATAACCCCAGCTATAACAAACTATGTAACTGACAAACTAGGGAAAAAGTTTGTAGAGCCTCCACCATTTGATTTGACAAAGAGTTACTTGGATTCAAATTGCACCATTCCCTTAATTTTTGTTCTATCTCCAGGAGCAGATCCTATGGCCA
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000174844_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=0.034 C2=0.000
Domain overlap (PFAM):
C1:
PF0302810=Dynein_heavy=PU(12.4=61.1)
A:
PF0302810=Dynein_heavy=FE(18.0=100)
C2:
PF0302810=Dynein_heavy=FE(18.7=100)
Main Skipping Isoform:
NA
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
AGTGCTGAGAAAAATCCTGATCCA
R:
TGGCCATAGGATCTGCTCC
Band lengths:
246-391
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains