Special

HsaEX6025172 @ hg38

Exon Skipping

Gene
ENSG00000187775 | DNAH17
Description
dynein axonemal heavy chain 17 [Source:HGNC Symbol;Acc:HGNC:2946]
Coordinates
chr17:78437641-78441199:-
Coord C1 exon
chr17:78441051-78441199
Coord A exon
chr17:78439090-78439217
Coord C2 exon
chr17:78437641-78437868
Length
128 bp
Sequences
Splice sites
3' ss Seq
CCTGTTTTTCTTTTCTTTAGGAA
3' ss Score
12.47
5' ss Seq
CAGGTACGA
5' ss Score
10.03
Exon sequences
Seq C1 exon
GAACTTCGTGGAGGAAAAGATGGGCAGCAAGTTCGTGGAAGGCCGGAGTGTTGAGTTTTCTAAGTCCTACGAGGAGAGCAGCCCCTCCACGTCAATCTTCTTCATCCTCTCCCCGGGGGTTGACCCCTTGAAAGACGTGGAAGCCCTGG
Seq A exon
GAAAAAAACTAGGGTTTACCATAGACAATGGAAAACTCCATAATGTGTCCCTGGGGCAGGGACAAGAGGTGGTGGCTGAGAACGCCCTGGACGTGGCTGCAGAGAAAGGACACTGGGTCATTCTGCAG
Seq C2 exon
AATATCCACCTGGTGGCCCGGTGGCTGGGAACACTGGACAAGAAGCTGGAGCACTACAGCACGGGCAGCCATGAGGACTACCGGGTGTTCATCAGCGCGGAGCCTGCCCCCAGCCCCGAGACCCACATCATCCCCCAGGGCATTCTGGAGAACGCCATCAAGATCACCAACGAGCCCCCCACGGGCATGCACGCCAACTTGCACAAGGCCCTGGACCTGTTCACCCAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000187775-'101-108,'101-106,103-108=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=0.013
Domain overlap (PFAM):

C1:
PF0302810=Dynein_heavy=FE(7.1=100)
A:
PF0302810=Dynein_heavy=FE(6.0=100)
C2:
PF0302810=Dynein_heavy=FE(10.7=100)


Main Inclusion Isoform:


Main Skipping Isoform:
NA


Other Inclusion Isoforms:


Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Primers PCR
Suggestions for RT-PCR validation
F:
GGCCGGAGTGTTGAGTTTTCT
R:
CTGGGGGATGATGTGGGTCTC
Band lengths:
247-375
Functional annotations
There are 0 annotated functions for this event


GENOMIC CONTEXT[edit]

INCLUSION PATTERN[edit]


SPECIAL DATASETS

  • Autistic and control brains