Special

HsaEX6025162 @ hg38

Exon Skipping

Gene
ENSG00000187775 | DNAH17
Description
dynein axonemal heavy chain 17 [Source:HGNC Symbol;Acc:HGNC:2946]
Coordinates
chr17:78458565-78460001:-
Coord C1 exon
chr17:78459784-78460001
Coord A exon
chr17:78459001-78459208
Coord C2 exon
chr17:78458565-78458680
Length
208 bp
Sequences
Splice sites
3' ss Seq
CCCTCTGGTTCCCTCGCTAGGCC
3' ss Score
10.15
5' ss Seq
GCCGTAAGT
5' ss Score
10.11
Exon sequences
Seq C1 exon
AACAACCTGACAGAGCTGAAGTCCTTTGGGTCCCCGCCGGATGCTGTGGTCAACGTCACCGCCGCCGTCATGATTCTGACCGCACCTGGGGGCAAGATCCCCAAGGACAAGAGCTGGAAGGCGGCCAAGATCATGATGGGCAAGGTGGACACCTTCCTAGACTCCCTGAAGAAGTTCGACAAGGAGCACATCCCTGAGGCCTGCCTGAAGGCCTTCAA
Seq A exon
GCCCTACCAAGGCAACCCGACGTTCGACCCCGAGTTCATCCGCTCCAAGTCCACGGCCGCCGCCGGCCTGTGCTCCTGGTGCATCAACATCGTCCGCTTCTACGAGGTCTACTGCGACGTGGCGCCCAAGAGGCAGGCACTGGAGGAGGCTAATGCAGAGCTGGCAGAGGCACAAGAGAAGCTGTCCCGGATCAAAAACAAGATTGCC
Seq C2 exon
GAACTTAACGCCAACCTGAGCAACCTAACCTCAGCGTTTGAAAAAGCAACAGCTGAGAAAATCAAGTGTCAGCAAGAGGCCGATGCCACGAACAGGGTGATCTTACTGGCGAACAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000187775-'83-92,'83-90,84-92=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=0.000
Domain overlap (PFAM):

C1:
PF127772=MT=FE(20.9=100)
A:
PF127772=MT=FE(20.1=100),PF041569=IncA=PU(38.4=54.3)
C2:
PF127772=MT=FE(11.0=100),PF041569=IncA=FE(38.4=100)


Main Inclusion Isoform:


Main Skipping Isoform:
NA


Other Inclusion Isoforms:


Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Chicken
(galGal3)
HIGH PSI
Zebrafish
(danRer10)
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
GAGCTGAAGTCCTTTGGGTCC
R:
GATCACCCTGTTCGTGGCATC
Band lengths:
308-516
Functional annotations
There are 0 annotated functions for this event


GENOMIC CONTEXT[edit]

INCLUSION PATTERN[edit]


SPECIAL DATASETS

  • Autistic and control brains