HsaEX0020130 @ hg38
Exon Skipping
Gene
ENSG00000185842 | DNAH14
Description
dynein axonemal heavy chain 14 [Source:HGNC Symbol;Acc:HGNC:2945]
Coordinates
chr1:225240593-225258118:+
Coord C1 exon
chr1:225240593-225240822
Coord A exon
chr1:225252301-225252417
Coord C2 exon
chr1:225257960-225258118
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-'89-120,'89-119,92-120
Average complexity
C1
Mappability confidence:
100%=100=100%
Protein Impact
Alternative protein isoforms (Ref)
No structure available
Features
Disorder rate (Iupred):
C1=0.044 A=0.040 C2=0.000
Domain overlap (PFAM):
C1:
NO
A:
NO
C2:
PF127752=AAA_7=PU(50.8=55.6)
Main Skipping Isoform:
NA
Other Inclusion Isoforms:
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Mouse
(mm9)
No conservation detected
Cow
(bosTau6)
No conservation detected
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