HsaEX6025148 @ hg38
Exon Skipping
Gene
ENSG00000187775 | DNAH17
Description
dynein axonemal heavy chain 17 [Source:HGNC Symbol;Acc:HGNC:2946]
Coordinates
chr17:78486224-78491570:-
Coord C1 exon
chr17:78491443-78491570
Coord A exon
chr17:78490699-78490847
Coord C2 exon
chr17:78486224-78486506
Length
149 bp
Sequences
Splice sites
3' ss Seq
GGCTGCTGTCCCCCTCCTAGGTC
3' ss Score
9.6
5' ss Seq
CCCGTGAGT
5' ss Score
8.4
Exon sequences
Seq C1 exon
GCCTGTTCTCCACCATCATGCGAGACCTGGCCAACATCACCCATGACGGCCCCAAGTGGATCATCCTTGACGGAGACATAGACCCCATGTGGATCGAGTCTCTCAACACAGTCATGGATGACAACAAG
Seq A exon
GTCCTCACCCTGGCCAGCAACGAGCGGATCCCCCTGAACCGCACCATGAGGCTGGTGTTCGAAATCAGCCACCTGAGGACGGCCACCCCAGCCACCGTTTCCAGAGCCGGCATCCTCTACATCAACCCAGCCGACCTGGGATGGAACCC
Seq C2 exon
GGTGGTGAGCAGCTGGATCGAGAGGCGCAAGGTGCAGTCGGAGAAGGCCAACCTGATGATCCTCTTTGACAAGTACCTGCCCACGTGCCTGGACAAGTTGCGCTTTGGGTTCAAGAAGATCACGCCAGTGCCGGAGATCACGGTGATCCAAACGATTCTGTACCTGCTGGAGTGCCTGCTCACGGAGAAGACCGTGCCCCCCGACTCCCCCAGGGAGCTGTACGAGCTGTACTTCGTGTTCACCTGCTTCTGGGCCTTCGGTGGCGCCATGTTCCAGGACCAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000187775-'59-69,'59-67,60-69=AN
Average complexity
A_C1
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:
PF077289=AAA_5=FE(30.7=100)
A:
PF077289=AAA_5=PD(25.5=70.0)
C2:
NO
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:
CCTGTTCTCCACCATCATGCG
R:
TCTTGAACCCAAAGCGCAACT
Band lengths:
243-392
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains