Special

HsaEX0020130 @ hg19

Exon Skipping

Gene
ENSG00000185842 | DNAH14
Description
dynein, axonemal, heavy chain 14 [Source:HGNC Symbol;Acc:2945]
Coordinates
chr1:225428295-225445820:+
Coord C1 exon
chr1:225428295-225428524
Coord A exon
chr1:225440003-225440119
Coord C2 exon
chr1:225445662-225445820
Length
117 bp
Sequences
Splice sites
3' ss Seq
TTTATTATTTTCGGTTGTAGGCA
3' ss Score
8.9
5' ss Seq
GAGGTAAGA
5' ss Score
10.06
Exon sequences
Seq C1 exon
GGATGAAAATACATGGTATCCAGAGAAAAATCCTGATAAATTAACAAAAATTATTCAAAAGCTTTTTGTGTTTGCCTTTACTTGGGCATTTGGAGGAGCTTTAAACCGTGAAGATGAACACAGAGAAAATATACCATTTTGTCCCAGTCTTGAACCTGATTCTCTTGCAAAAGTAACATACGATTTTGACAAACTTGTTCATGAATTATTTGGAAACAGTTCACAAGTAG
Seq A exon
GCATCAACCTACCAACTGGTGAATGTTCCATCTTTGGATATTTTGTGGATATAGAGCAATGTGAATTCATACCTTGGTCAGATTTAGTTCCTAATGATCAGACACTAATTCAAAGAG
Seq C2 exon
GAACTTCATTACTAACTAATCTTCAAAGATCTGGCGGAAACTTCTTGAAGATAACAGAATGTGGAGAATGCATTAATTATACCGCTACCAGAGACACAACATGCCTTTCTTTTCTCATGAGCCTTCTTTTAAAGAATTCCTGCCCTGTACTTCTCACAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000185842-'67-76,'67-75,70-76
Average complexity
C1
Mappability confidence:
100%=100=100%
Protein Impact

Alternative protein isoforms (No Ref)

No structure available
Features
Disorder rate (Iupred):
  C1=0.044 A=0.050 C2=0.000
Domain overlap (PFAM):

C1:
NO
A:
NO
C2:
PF127752=AAA_7=PU(50.8=55.6)


Main Inclusion Isoform:


Main Skipping Isoform:
NA


Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Chicken
(galGal4)
No conservation detected
Chicken
(galGal3)
No conservation detected
Zebrafish
(danRer10)
No conservation detected
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
CTTGGGCATTTGGAGGAGCTT
R:
TGTTGTGTCTCTGGTAGCGGT
Band lengths:
251-368
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