HsaEX6056802 @ hg38
Exon Skipping
Gene
ENSG00000174844 | DNAH12
Description
dynein axonemal heavy chain 12 [Source:HGNC Symbol;Acc:HGNC:2943]
Coordinates
chr3:57301735-57309854:-
Coord C1 exon
chr3:57309666-57309854
Coord A exon
chr3:57309151-57309254
Coord C2 exon
chr3:57301735-57301939
Length
104 bp
Sequences
Splice sites
3' ss Seq
TTCAAAATCTATTCTTTTAGCTC
3' ss Score
6.59
5' ss Seq
CAAGTAAGG
5' ss Score
7.66
Exon sequences
Seq C1 exon
AAACTTCCATTTACTCAACACCCTGAGATATTTGGATTACATGAAAACGTTGACATCTCCAAGGATCTTCAACAAACAAAAACCCTCTTTGAGTCCTTGCTCCTCACCCAGGGAGGCTCCAAACAGACAGGAGCCTCAGGAAGTACTGATCAGATTCTGTTAGAAATTACCAAAGATATCCTCAACAAG
Seq A exon
CTCCCTAGTGATTTCGACATTGAAATGGCACTACGGAAGTATCCTGTGAGATATGAAGAAAGCATGAATACTGTGTTAGTACAAGAAATGGAAAGATTTAACAA
Seq C2 exon
TTTAATTATAACTATACGTAACACTCTACGGGACCTTGAAAAAGCTATTAAGGGTGTGGTTGTGATGGATTCTGCATTGGAGGCACTCTCCGGTAGCTTACTTGTTGGAAAGGTTCCAGAAATATGGGCCAAACGTTCATACCCAAGCCTTAAGCCCCTGGGAAGTTACATCACAGATTTCCTAGCCCGGTTGAACTTTTTACAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000174844-'93-102,'93-99,94-102=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=0.016 A=0.000 C2=0.000
Domain overlap (PFAM):
C1:
PF0302810=Dynein_heavy=FE(15.5=100)
A:
PF0302810=Dynein_heavy=FE(4.8=100)
C2:
PF0302810=Dynein_heavy=FE(16.7=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:
TCCAAACAGACAGGAGCCTCA
R:
TGATGTAACTTCCCAGGGGCT
Band lengths:
245-349
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains