HsaEX0020131 @ hg38
Exon Skipping
Gene
ENSG00000185842 | DNAH14
Description
dynein axonemal heavy chain 14 [Source:HGNC Symbol;Acc:HGNC:2945]
Coordinates
chr1:225252301-225259253:+
Coord C1 exon
chr1:225252301-225252417
Coord A exon
chr1:225257960-225258118
Coord C2 exon
chr1:225259121-225259253
Length
159 bp
Sequences
Splice sites
3' ss Seq
TTTTTAAAATGTTAACTTAGGAA
3' ss Score
5.09
5' ss Seq
CAGGTATTA
5' ss Score
7.26
Exon sequences
Seq C1 exon
GCATCAACCTACCAACTGGTGAATGTTCCATCTTTGGATATTTTGTGGATATAGAGCAATGTGAATTCATACCTTGGTCAGATTTAGTTCCTAATGATCAGACACTAATTCAAAGAG
Seq A exon
GAACTTCATTACTAACTAATCTTCAAAGATCTGGCGGAAACTTCTTGAAGATAACAGAATGTGGAGAATGCATTAATTATACCGCTACCAGAGACACAACATGCCTTTCTTTTCTCATGAGCCTTCTTTTAAAGAATTCCTGCCCTGTACTTCTCACAG
Seq C2 exon
GAGAATCTGGTGTTGGGAAAACTGCTGCCATTAATCAAATGCTTGAAAAGCTAGAGGGTCCAGGAGCATTTGACATAAAACATGGTTCAATTTTAGGAGACACCCTATTATATAGTGAAATAAAAAAATCAAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000185842-'92-121,'92-120,93-121
Average complexity
C1
Mappability confidence:
100%=100=100%
Protein Impact
Alternative protein isoforms (Ref)
No structure available
Features
Disorder rate (Iupred):
C1=0.040 A=0.000 C2=0.000
Domain overlap (PFAM):
C1:
NO
A:
PF127752=AAA_7=PU(50.8=55.6)
C2:
PF127752=AAA_7=PD(47.5=62.2)
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
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:
CCAACTGGTGAATGTTCCATCT
R:
AGGGTGTCTCCTAAAATTGAACCA
Band lengths:
212-371
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