HsaEX1011877 @ hg38
Exon Skipping
Gene
ENSG00000174844 | DNAH12
Description
dynein axonemal heavy chain 12 [Source:HGNC Symbol;Acc:HGNC:2943]
Coordinates
chr3:57363594-57375516:-
Coord C1 exon
chr3:57375371-57375516
Coord A exon
chr3:57368046-57368260
Coord C2 exon
chr3:57363594-57363786
Length
215 bp
Sequences
Splice sites
3' ss Seq
TTTTTCTTATTATATTCTAGGCC
3' ss Score
11.23
5' ss Seq
AAGGTATAA
5' ss Score
7.08
Exon sequences
Seq C1 exon
AAGAAAAAAATCCCGTGTTCAGAGGAGTTCTTGTTGAGTAAAACCCTGGGTGATCCAGTAAAAATTAGAGCTTGGAATATTGCTGGTTTACCAACAGATACATTTTCCATAGATAACGGAGTGATCGTTAACAACTGTAGGCGTTG
Seq A exon
GCCTTTAATGATTGACCCCCAGGGTCAAGCCAATAAGTGGATCAAAAACTCTGAAAAAGAAAATCAGCTTAGTGTTATTAAGCTATCAGATTCAGACTATATGAGAACATTGGAAAACTGTATTCAGTTTGGAACTCCACTTCTATTAGAAAATGTTGGTGAAGAACTGGATCCATCTTTGGAGCCTTTACTACTCAGACAAACTTTTAAACAAG
Seq C2 exon
ACCAGAATTAGAAGAGGAACGAAATGCCCTGATTCTTCAGTCTGCAGCTAACAAGAAACAGCTGAAAGACATAGAGAAAAAAATTTTAGAAACATTATCATCATCAGAAGGAAACATTTTAGAAGATGAAAGTGCAATTAAAGTCTTAGACTCTGCCAAAATGATGTCCAATGAAATAACAAAGAAACAGCAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000174844_MULTIEX2-15/19=14-17
Average complexity
C3
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=PU(14.7=69.4)
A:
PF127812=AAA_9=FE(31.2=100)
C2:
PF127812=AAA_9=PD(26.0=92.3)
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:
TCCCGTGTTCAGAGGAGTTCT
R:
TGGACATCATTTTGGCAGAGTCT
Band lengths:
306-521
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains