HsaEX6047053 @ hg38
Exon Skipping
Gene
ENSG00000124721 | DNAH8
Description
dynein axonemal heavy chain 8 [Source:HGNC Symbol;Acc:HGNC:2952]
Coordinates
chr6:38848648-38851674:+
Coord C1 exon
chr6:38848648-38848801
Coord A exon
chr6:38850251-38850414
Coord C2 exon
chr6:38851572-38851674
Length
164 bp
Sequences
Splice sites
3' ss Seq
GGCTATGGATGCATTTTCAGGAA
3' ss Score
5.67
5' ss Seq
AGGGTAAGA
5' ss Score
9.21
Exon sequences
Seq C1 exon
ATACAATGCTCCATTTAAAAAAAATATCCAGAATTGGGTGTATAAATTGTCCACTTCCTCAGATATAATTGAAGAGTGGCTCGTAGTACAGAACCTTTGGGTTTATCTTGAAGCCGTCTTTGTAGGTGGAGATATTGCCAAACAGCTGCCTCAG
Seq A exon
GAAGCAAAACGTTTTCAGAATATTGACAAGTCTTGGATAAAAATAATGCAGCGAGCTCATGAGAATCCCAATGTGATTAATTGCTGTGTTGGAGATGAAACCATGGGACAACTTTTACCTCATTTACATGAGCAGTTGGAAGTATGTCAGAAGTCACTCACAGG
Seq C2 exon
GTATTTGGAGAAGAAACGATTACTGTTTCCAAGATTCTTCTTTGTATCTGATCCAGTTCTCCTGGAAATTCTTGGACAAGCCAGTGATTCCCACACCATACAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000124721-'36-54,'36-45,46-54=AN
Average complexity
A_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:
PF083938=DHC_N2=FE(12.3=100)
A:
PF083938=DHC_N2=FE(13.1=100)
C2:
PF083938=DHC_N2=FE(8.2=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:
TTATATCAAATTTTCCCTGACTGCA
R:
TCTCACCATCGTTAAGAAGATTCCA
Band lengths:
178-342
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains