HsaEX1011880 @ hg38
Exon Skipping
Gene
ENSG00000174844 | DNAH12
Description
dynein axonemal heavy chain 12 [Source:HGNC Symbol;Acc:HGNC:2943]
Coordinates
chr3:57334782-57363786:-
Coord C1 exon
chr3:57363594-57363786
Coord A exon
chr3:57357176-57357348
Coord C2 exon
chr3:57334782-57334940
Length
173 bp
Sequences
Splice sites
3' ss Seq
CGCTTTTTCTGTTCTCCTAGATT
3' ss Score
9.26
5' ss Seq
CAGGTAAAC
5' ss Score
7.82
Exon sequences
Seq C1 exon
ACCAGAATTAGAAGAGGAACGAAATGCCCTGATTCTTCAGTCTGCAGCTAACAAGAAACAGCTGAAAGACATAGAGAAAAAAATTTTAGAAACATTATCATCATCAGAAGGAAACATTTTAGAAGATGAAAGTGCAATTAAAGTCTTAGACTCTGCCAAAATGATGTCCAATGAAATAACAAAGAAACAGCAG
Seq A exon
ATTGCAGAAAAAACAGAACTCAAAATAGCAGAGTCTCGAGAAGGCTATAGACCCATCGCCAAACACTCGTCAGTGTTATTCTTTAGCATTGCAGACCTGGCTAATATTGATCCCATGTATCAGTACTCTCTCACGTGGTTTGTGAACCTTTATATCAACTCTATTCATGACAG
Seq C2 exon
GGCAAGGAAAGAGATTGAATACCAGGAACTGATGTTTCTTTTAACTGGAGGAGTAAGTCTTAAAAGTGCTGAGAAAAATCCTGATCCAACTTGGCTACAGGACAAAAGCTGGGAGGAAATCTGTCGGGCAAGTGAATTTCCTGCCTTCAGAGGACTCAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000174844_MULTIEX2-18/19=17-C2
Average complexity
C2
Mappability confidence:
100%=100=100%
Protein Impact
In the CDS, with uncertain impact
No structure available
Features
Disorder rate (Iupred):
C1=0.000 A=0.000 C2=0.000
Domain overlap (PFAM):
C1:
PF127812=AAA_9=PD(26.0=92.3)
A:
NO
C2:
PF0302810=Dynein_heavy=PU(12.4=61.1)
Other Skipping Isoforms:
NA
Associated events
Conservation
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
TCTGCAGCTAACAAGAAACAGCT
R:
CCTGTAGCCAAGTTGGATCAGG
Band lengths:
254-427
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains