HsaEX0020138 @ hg38
Exon Skipping
Gene
ENSG00000185842 | DNAH14
Description
dynein axonemal heavy chain 14 [Source:HGNC Symbol;Acc:HGNC:2945]
Coordinates
chr1:225204183-225240822:+
Coord C1 exon
chr1:225204183-225204273
Coord A exon
chr1:225205971-225206179
Coord C2 exon
chr1:225240593-225240822
Length
209 bp
Sequences
Splice sites
3' ss Seq
AAAAATATTTTTCTCTCCAGATT
3' ss Score
8.68
5' ss Seq
ATGGTAAGC
5' ss Score
9.26
Exon sequences
Seq C1 exon
GTTTTCAAACTTGATTCCTCTGATACAACAGAGACTGATGATAATATTTTTGAGGAGATAGAGAAAGTTGTTAAAATTCCAGAAAATCACA
Seq A exon
ATTTTGATTGGCAGTGGATTATCCTAGATGGCCCAGTGGACACCTTTTGGGTAGAAAATCTGAACTCTGTGCTAGATGATACTAGAACATTGTGCCTAGCAAACAGTGAGAGAATAGCTTTAACTAATAAAATAAGAGTGATTTTTGAAGTGGACAATCTCTCTCAGGCCAGTCCTGCTACTGTCAGCCGATGTGCCATGGTCTATATG
Seq C2 exon
GGATGAAAATACATGGTATCCAGAGAAAAATCCTGATAAATTAACAAAAATTATTCAAAAGCTTTTTGTGTTTGCCTTTACTTGGGCATTTGGAGGAGCTTTAAACCGTGAAGATGAACACAGAGAAAATATACCATTTTGTCCCAGTCTTGAACCTGATTCTCTTGCAAAAGTAACATACGATTTTGACAAACTTGTTCATGAATTATTTGGAAACAGTTCACAAGTAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000185842_MULTIEX2-38/72=37-42
Average complexity
C3
Mappability confidence:
97%=95=100%
Protein Impact
ORF disruption upon sequence exclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.000 A=0.000 C2=0.044
Domain overlap (PFAM):
C1:
NO
A:
NO
C2:
NO
Main Skipping Isoform:
NA
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
TCAAACTTGATTCCTCTGATACAACA
R:
TTCATGAACAAGTTTGTCAAAATCGT
Band lengths:
292-501
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Genotype-Tissue Expression Project (GTEx)
- Autistic and control brains
- Pre-implantation embryo development