HsaEX1011878 @ hg38
Exon Skipping
Gene
ENSG00000174844 | DNAH12
Description
dynein axonemal heavy chain 12 [Source:HGNC Symbol;Acc:HGNC:2943]
Coordinates
chr3:57363594-57368260:-
Coord C1 exon
chr3:57368046-57368260
Coord A exon
chr3:57366729-57366921
Coord C2 exon
chr3:57363594-57363786
Length
193 bp
Sequences
Splice sites
3' ss Seq
ATTTGTTTTCTGAAATATAGGTG
3' ss Score
6.83
5' ss Seq
GAGGTATGT
5' ss Score
9.81
Exon sequences
Seq C1 exon
GCCTTTAATGATTGACCCCCAGGGTCAAGCCAATAAGTGGATCAAAAACTCTGAAAAAGAAAATCAGCTTAGTGTTATTAAGCTATCAGATTCAGACTATATGAGAACATTGGAAAACTGTATTCAGTTTGGAACTCCACTTCTATTAGAAAATGTTGGTGAAGAACTGGATCCATCTTTGGAGCCTTTACTACTCAGACAAACTTTTAAACAAG
Seq A exon
GTGGCATTGATTGCATCAGACTTGGTGAGGTCATTATTGAGTATTCCTTTGATTTCAAATTTTATATCACCACAAAACTGAGAAACCCGCACTATATGCCAGAACTGGCTACAAAAGTGTCTTTGCTCAATTTCATGATAACTCCAGAAGGACTTGAAGATCAATTACTAGGTATTGTTGTTGCAAAGGAGAG
Seq C2 exon
ACCAGAATTAGAAGAGGAACGAAATGCCCTGATTCTTCAGTCTGCAGCTAACAAGAAACAGCTGAAAGACATAGAGAAAAAAATTTTAGAAACATTATCATCATCAGAAGGAAACATTTTAGAAGATGAAAGTGCAATTAAAGTCTTAGACTCTGCCAAAATGATGTCCAATGAAATAACAAAGAAACAGCAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000174844_MULTIEX2-16/19=15-17
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(31.2=100)
A:
PF127812=AAA_9=FE(27.7=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:
CCCCAGGGTCAAGCCAATAAG
R:
TCTTGTTAGCTGCAGACTGAAGA
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