Special

HsaEX0020176 @ hg38

Exon Skipping

Gene
ENSG00000187775 | DNAH17
Description
dynein axonemal heavy chain 17 [Source:HGNC Symbol;Acc:HGNC:2946]
Coordinates
chr17:78426926-78429300:-
Coord C1 exon
chr17:78429121-78429300
Coord A exon
chr17:78428525-78428707
Coord C2 exon
chr17:78426926-78427108
Length
183 bp
Sequences
Splice sites
3' ss Seq
CAAACTGCCCTCTTTTTCAGGGT
3' ss Score
10.91
5' ss Seq
AAGGCAGGA
5' ss Score
1.7
Exon sequences
Seq C1 exon
GTGCCCTGGGACGATCTCCGCTACCTTTTTGGTGAAATCATGTATGGCGGCCACATCACAGATGACTGGGACCGTCGGCTGTGCAGGACCTACCTGGCTGAATACATCCGGACGGAGATGCTGGAGGGAGACGTCCTGCTGGCCCCCGGCTTTCAGATCCCCCCCAACCTGGACTACAAG
Seq A exon
GGTTACCACGAATACATCGATGAGAACCTGCCCCCTGAGAGTCCCTATCTGTATGGCCTGCACCCCAACGCAGAGATTGGCTTTCTGACGGTCACCTCAGAGAAGCTGTTCCGCACTGTCCTGGAAATGCAGCCAAAAGAGACGGACTCGGGGGCAGGCACGGGAGTGTCCCGCGAGGAGAAG
Seq C2 exon
GTGAAGGCCGTGCTGGACGACATCCTGGAGAAGATTCCGGAGACTTTCAACATGGCTGAGATCATGGCAAAGGCAGCGGAAAAGACCCCCTACGTGGTAGTCGCCTTTCAAGAATGTGAAAGAATGAACATCCTGACCAACGAAATGCGCCGTTCGCTCAAGGAGCTGAACCTGGGGCTGAAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000187775-'107-119,'107-115,108-119
Average complexity
C1
Mappability confidence:
100%=100=100%
Protein Impact

Alternative protein isoforms (Ref)

No structure available
Features
Disorder rate (Iupred):
  C1=0.000 A=0.163 C2=0.000
Domain overlap (PFAM):

C1:
PF0302810=Dynein_heavy=FE(10.7=100)
A:
PF0302810=Dynein_heavy=FE(10.9=100)
C2:
PF0302810=Dynein_heavy=FE(10.9=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:
ATCATGTATGGCGGCCACATC
R:
GACTACCACGTAGGGGGTCTT
Band lengths:
246-429
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