HsaEX0020173 @ hg38
Exon Skipping
Gene
ENSG00000187775 | DNAH17
Description
dynein axonemal heavy chain 17 [Source:HGNC Symbol;Acc:HGNC:2946]
Coordinates
chr17:78476572-78479632:-
Coord C1 exon
chr17:78479485-78479632
Coord A exon
chr17:78479025-78479116
Coord C2 exon
chr17:78476572-78476733
Length
92 bp
Sequences
Splice sites
3' ss Seq
ACGTCCTTTTCCTCTAACAGCTT
3' ss Score
9.69
5' ss Seq
CAGGTACTG
5' ss Score
9.04
Exon sequences
Seq C1 exon
CGCCATTTCTGCGTGTTTGCTGTGAGCTTCCCCGGCCAGGAGGCCCTCACCACCATCTACAACACAATCCTGACGCAGCACCTGGCCTTCCGCTCGGTCTCCATGGCTATCCAGAGGATAAGCAGCCAGCTGGTGGCCGCGGCCCTGG
Seq A exon
CTTTGCATCAGAAAATCACGGCAACATTTCTTCCCACGGCCATTAAGTTTCATTATGTCTTCAACCTCAGGGACCTCTCCAATATTTTCCAG
Seq C2 exon
GGACTCTTATTTTCCACAGCAGAAGTTCTGAAAACCCCACTGGACCTCGTCCGCCTTTGGCTACATGAGACTGAACGAGTGTATGGTGACAAAATGGTTGACGAAAAAGACCAGGAAACATTGCATAGAGTCACCATGGCCTCCACCAAGAAGTTCTTTGAT
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000187775-'69-81,'69-75,71-81=AN
Average complexity
A_C2
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:
PF127752=AAA_7=FE(18.0=100)
A:
PF127752=AAA_7=FE(11.0=100)
C2:
PF127752=AAA_7=PD(8.1=40.7)
Main Skipping Isoform:
NA
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Chicken
(galGal3)
No conservation detected
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
TGGGATTACAGGTGGGAGTCA
R:
GCCTGTAATCCCAGCACTCTG
Band lengths:
182-274
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains
- Pre-implantation embryo development