Special

HsaEX0020171 @ hg19

Exon Skipping

Gene
ENSG00000187775 | DNAH17
Description
dynein, axonemal, heavy chain 17 [Source:HGNC Symbol;Acc:2946]
Coordinates
chr17:76490675-76492114:-
Coord C1 exon
chr17:76491957-76492114
Coord A exon
chr17:76491041-76491179
Coord C2 exon
chr17:76490675-76490902
Length
139 bp
Sequences
Splice sites
3' ss Seq
GGCACCGCTGACCTCCCCAGGCC
3' ss Score
5.79
5' ss Seq
CAGGTGTGT
5' ss Score
6.99
Exon sequences
Seq C1 exon
GTAAAATGTGTCCAGGATGCAATTCGGGCCAAGAAAAAAGCATTCAATTTCCTGGGAGAGATCATAGGCCTCATTCCCACCGTCGGTATCTTCATCACCATGAACCCTGGGTACGCCGGACGCGCGGAGCTGCCTGAGAACCTAAAAGCCTTATTCAG
Seq A exon
GCCCTGTGCCATGGTCGTCCCCGACTTCGAACTGATATGTGAGATCATGCTCATGGCCGAGGGCTTTCTGGAAGCCCGCCTTCTGGCCAGGAAGTTCATCACCCTGTACACCTTGTGCAAGGAGCTGCTCTCGAAGCAG
Seq C2 exon
GATCATTACGACTGGGGCCTGAGAGCCATCAAGTCTGTGCTGGTGGTGGCCGGCTCCCTGAAGAGGGGCGACCCCAGCCGGGCAGAGGACCAGGTGCTCATGCGGGCGCTGAGAGACTTCAACATCCCCAAGATTGTGACAGACGACCTGCCCGTATTCATGGGACTGATCGGGGACCTCTTCCCGGCTCTGGACGTGCCTCGGAAACGGGACCTGAATTTTGAAAAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000187775-'42-44,'42-43,43-44
Average complexity
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=0.000
Domain overlap (PFAM):

C1:
PF127742=AAA_6=FE(22.5=100)
A:
PF127742=AAA_6=FE(19.9=100)
C2:
PF127742=AAA_6=PD(10.4=31.6)


Main Inclusion Isoform:


Main Skipping Isoform:
NA


Other Inclusion Isoforms:


Other Skipping Isoforms:
NA
Associated events
Other assemblies
Primers PCR
Suggestions for RT-PCR validation
F:
TTCCCACCGTCGGTATCTTCA
R:
CATGAATACGGGCAGGTCGTC
Band lengths:
247-386
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