Special

HsaEX6025151 @ hg19

Exon Skipping

Gene
ENSG00000187775 | DNAH17
Description
dynein, axonemal, heavy chain 17 [Source:HGNC Symbol;Acc:2946]
Coordinates
chr17:76480950-76482215:-
Coord C1 exon
chr17:76482042-76482215
Coord A exon
chr17:76481632-76481839
Coord C2 exon
chr17:76480950-76481115
Length
208 bp
Sequences
Splice sites
3' ss Seq
CCTTCCCTCCCCTGCCCCAGGCC
3' ss Score
9.47
5' ss Seq
AGGGTGAGG
5' ss Score
7.13
Exon sequences
Seq C1 exon
CTTGTGGATTATCGAGTGGAGTTCAGTAAATGGTGGATCAACGAATTCAAGACTATCAAGTTCCCCTCGCAGGGAACGATTTTTGACTACTACATTGATCCTGACACAAAAAAGTTCCTGCCCTGGACAGATAAAGTGCCCTCCTTTGAGCTGGATCCCGATGTCCCACTGCAG
Seq A exon
GCCTCTTTGGTCCACACCACGGAAACCATCCGCATCCGCTACTTCATGGACCTGCTCATGGAGAAGTCCTGGCCGGTGATGCTGGTGGGGAACGCGGGGACGGGCAAGTCGGTGCTGATGGGGGACAAGCTGGAAAGCCTGAACACGGACAACTACCTGGTGCAGGCTGTGCCCTTCAACTTCTACACGACCTCAGCCATGCTGCAGG
Seq C2 exon
GGGTGCTGGAGAAGCCGCTGGAGAAGAAATCGGGGAGGAACTACGGGCCGCCAGGCACTAAGAAGCTCGTCTACTTCATCGACGACATGAACATGCCCGAGGTGGACAAGTATGGGACGGTGGCCCCGCACACCCTCATCCGGCAGCACATGGACCACCGGCACTG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000187775-'50-52,'50-51,51-52=AN
Average complexity
A_S
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=0.107
Domain overlap (PFAM):

C1:
PF127752=AAA_7=PU(3.3=15.5)
A:
PF127752=AAA_7=FE(25.4=100)
C2:
PF127752=AAA_7=FE(20.2=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:
TGTGGATTATCGAGTGGAGTTCA
R:
CACCGTCCCATACTTGTCCAC
Band lengths:
294-502
Functional annotations
There are 0 annotated functions for this event


GENOMIC CONTEXT[edit]

INCLUSION PATTERN[edit]


SPECIAL DATASETS

  • Autistic and control brains