HsaEX1011879 @ hg38
Exon Skipping
Gene
ENSG00000174844 | DNAH12
Description
dynein axonemal heavy chain 12 [Source:HGNC Symbol;Acc:HGNC:2943]
Coordinates
chr3:57357176-57366921:-
Coord C1 exon
chr3:57366729-57366921
Coord A exon
chr3:57363594-57363786
Coord C2 exon
chr3:57357176-57357348
Length
193 bp
Sequences
Splice sites
3' ss Seq
AAATGTTTCTATCTTTTTAGACC
3' ss Score
8.35
5' ss Seq
CAGGTGAAA
5' ss Score
5.07
Exon sequences
Seq C1 exon
GTGGCATTGATTGCATCAGACTTGGTGAGGTCATTATTGAGTATTCCTTTGATTTCAAATTTTATATCACCACAAAACTGAGAAACCCGCACTATATGCCAGAACTGGCTACAAAAGTGTCTTTGCTCAATTTCATGATAACTCCAGAAGGACTTGAAGATCAATTACTAGGTATTGTTGTTGCAAAGGAGAG
Seq A exon
ACCAGAATTAGAAGAGGAACGAAATGCCCTGATTCTTCAGTCTGCAGCTAACAAGAAACAGCTGAAAGACATAGAGAAAAAAATTTTAGAAACATTATCATCATCAGAAGGAAACATTTTAGAAGATGAAAGTGCAATTAAAGTCTTAGACTCTGCCAAAATGATGTCCAATGAAATAACAAAGAAACAGCAG
Seq C2 exon
ATTGCAGAAAAAACAGAACTCAAAATAGCAGAGTCTCGAGAAGGCTATAGACCCATCGCCAAACACTCGTCAGTGTTATTCTTTAGCATTGCAGACCTGGCTAATATTGATCCCATGTATCAGTACTCTCTCACGTGGTTTGTGAACCTTTATATCAACTCTATTCATGACAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000174844_MULTIEX2-17/19=16-18
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:
PF127812=AAA_9=FE(27.7=100)
A:
PF127812=AAA_9=PD(26.0=92.3)
C2:
NO
Main Skipping Isoform:
NA
Other Inclusion Isoforms:
NA
Other Skipping Isoforms:
NA
Associated events
Conservation
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
GCATCAGACTTGGTGAGGTCA
R:
ACTGACGAGTGTTTGGCGATG
Band lengths:
255-448
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains