Special

HsaEX0020129 @ hg38

Exon Skipping

Gene
ENSG00000185842 | DNAH14
Description
dynein axonemal heavy chain 14 [Source:HGNC Symbol;Acc:HGNC:2945]
Coordinates
chr1:225206968-225240822:+
Coord C1 exon
chr1:225206968-225207220
Coord A exon
chr1:225231073-225231151
Coord C2 exon
chr1:225240593-225240822
Length
79 bp
Sequences
Splice sites
3' ss Seq
AATACTCTTTCCTTTTTAAGGTG
3' ss Score
11.13
5' ss Seq
GAGGTCAGT
5' ss Score
7.7
Exon sequences
Seq C1 exon
GATCCTGTTGATCTGGGATGGGAACCTTATGTTAAGTCATGGCTTCTGAAAACTTCTAAAATTATAAGTCAATCAGGAGTGGATTGTCTTGAATTCATGATTAAAAATAGTGTCACAGACGGACTACAATTTATAAGGAATCGTCAGAAATTTCAGCCATATCCTATGGAGGACATAACAGTCGTCATAACCCTCTGCAGAATTCTTGATGCTTTCTTTGACTTCATGGGTAAAAATGGAGGATTTGAACAAA
Seq A exon
GTGATGATTTGAATGACACGTCATCTAAGGAGGCAAATTCCCAAAGAGAGTCTGTCACATTCAAGGATATAGAAAAGAG
Seq C2 exon
GGATGAAAATACATGGTATCCAGAGAAAAATCCTGATAAATTAACAAAAATTATTCAAAAGCTTTTTGTGTTTGCCTTTACTTGGGCATTTGGAGGAGCTTTAAACCGTGAAGATGAACACAGAGAAAATATACCATTTTGTCCCAGTCTTGAACCTGATTCTCTTGCAAAAGTAACATACGATTTTGACAAACTTGTTCATGAATTATTTGGAAACAGTTCACAAGTAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000185842_MULTIEX2-41/72=39-42
Average complexity
C2
Mappability confidence:
97%=98=100%
Protein Impact

ORF disruption upon sequence exclusion

No structure available
Features
Disorder rate (Iupred):
  C1=0.000 A=0.659 C2=0.044
Domain overlap (PFAM):

C1:
NO
A:
NO
C2:
NO


Main Inclusion Isoform:


Main Skipping Isoform:
ENST00000430092fB13962


Other Inclusion Isoforms:


Other Skipping Isoforms:
NA
Other assemblies
Conservation
Mouse
(mm9)
No conservation detected
Rat
(rn6)
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:
AGTCGTCATAACCCTCTGCAGA
R:
AAGCTCCTCCAAATGCCCAAG
Band lengths:
175-254
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