HsaEX6056765 @ hg38
Exon Skipping
Gene
ENSG00000174844 | DNAH12
Description
dynein axonemal heavy chain 12 [Source:HGNC Symbol;Acc:HGNC:2943]
Coordinates
chr3:57468736-57471606:-
Coord C1 exon
chr3:57471472-57471606
Coord A exon
chr3:57470443-57470636
Coord C2 exon
chr3:57468736-57468979
Length
194 bp
Sequences
Splice sites
3' ss Seq
AAAAACTTATTTACTTTCAGTAT
3' ss Score
5.98
5' ss Seq
ACGGTAATT
5' ss Score
7.31
Exon sequences
Seq C1 exon
CTAATTGAGAATGCTAAACATAAAAAAGAAAATGAACTAATGGCCAAGAGAGAGAAACTTATTTTGGAAATAGAAAAAGAATCACGCCGCATGGAGGAGTTTACAGAATTTGCAGAGCTGGAGCGCATGCAACAG
Seq A exon
TATGTGACAGATGTAAGACAACTACAAAAACGTATTCAGGAATCTGAAGAAGCAGTGCAGTTTATTAATAAAGAAGAGGAACTTTTCAAGTGGGAATTGACAAAATATCCTGAACTGGATAAATTAAAAGTTAACATTGAGCCCTATCAGAAGTTTTTTAATTTTGTTTTGAAGTGGCAGCGATCAGAAAAACG
Seq C2 exon
GTGGATGGATGGAGGGTTTTTGGACCTCAATGGGGAAAGCATGGAGGCTGATGTGGAAGAGTTTTCCCGAGAAATTTTTAAGACACTAAAATTTTTCCAAACGAAGCTAAAGAAAGAATTACAAGAAAAAAGAAAGGCAGCAAGAAAACGGTCTTTGGAAGAAGAGAAAATTGAAGAAGAACCAAAAGACAATGCTACTATTACTATGTGCAGTACAGTCATGGAACAGATAAAAGCTTTTAAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000174844-'17-26,'17-25,18-26=AN
Average complexity
A_S
Mappability confidence:
100%=100=100%
Protein Impact
ORF disruption upon sequence exclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.044 A=0.000 C2=0.123
Domain overlap (PFAM):
C1:
NO
A:
PF083938=DHC_N2=PU(6.7=43.1)
C2:
PF083938=DHC_N2=FE(18.3=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:
TGAACTAATGGCCAAGAGAGAGA
R:
AGACCGTTTTCTTGCTGCCTT
Band lengths:
257-451
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains