HsaEX6056780 @ hg38
Exon Skipping
Gene
ENSG00000174844 | DNAH12
Description
dynein axonemal heavy chain 12 [Source:HGNC Symbol;Acc:HGNC:2943]
Coordinates
chr3:57433367-57437060:-
Coord C1 exon
chr3:57436951-57437060
Coord A exon
chr3:57433645-57433828
Coord C2 exon
chr3:57433367-57433507
Length
184 bp
Sequences
Splice sites
3' ss Seq
TTATTTCTTTTCCTTCATAGTTT
3' ss Score
9.33
5' ss Seq
GAGGTAACC
5' ss Score
8.55
Exon sequences
Seq C1 exon
GAATTTTTGGAATGTGCTCATGAAGCCTGCAATGTACATAATCTTCAGCCTGTTAAATTTTTTCTTGAAAAAATAATTCAAACATATGAAATGATGATTGTTAGACATGG
Seq A exon
TTTTATGTTAGTAGGAGAGCCTTTTGCTGCTAAGACAAAAGTTCTGCATGTGCTGGCGGATACGCTAACTTTAATGAATGAACATGGCTATGGAGAGGAAGAAAAGGTCATTTATAGAACTGTAAACCCCAAATCTATTACTATGGGCCAACTTTTTGGACAGTTTGACCCAGTGTCTCATGAG
Seq C2 exon
TGGACTGATGGTATTGTGGCTAACACTTTTAGAGAATTTGCCTTATCAGAAACACCTGACCGGAAATGGGTTGTATTTGATGGTCCTATTGACACTTTGTGGATAGAGAGCATGAACACAGTATTGGATGATAATAAAAAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000174844-'38-44,'38-43,39-44
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=0.000 C2=0.000
Domain overlap (PFAM):
C1:
PF077289=AAA_5=PU(0.1=0.0)
A:
PF077289=AAA_5=PU(42.4=98.4)
C2:
PF077289=AAA_5=FE(31.9=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:
GAATTTTTGGAATGTGCTCATGAAG
R:
ATCATCCAATACTGTGTTCATGCTCT
Band lengths:
242-426
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains