HsaEX0020146 @ hg38
Exon Skipping
Gene
ENSG00000185842 | DNAH14
Description
dynein axonemal heavy chain 14 [Source:HGNC Symbol;Acc:HGNC:2945]
Coordinates
chr1:225002783-225038823:+
Coord C1 exon
chr1:225002783-225002927
Coord A exon
chr1:225007413-225007544
Coord C2 exon
chr1:225038694-225038823
Length
132 bp
Sequences
Splice sites
3' ss Seq
ATTTACTATCATCTAATTAGCTG
3' ss Score
4.15
5' ss Seq
AAGGTAATT
5' ss Score
8.83
Exon sequences
Seq C1 exon
GTCATTTTTGTACCACCATCTTTTTTTGGCTGATGACTTGTTTCAAACCTGTTTGGTTTATATAAGAGGACTTTGTGAAGATGCAATTAATCTCAAAAATTATAATGACCATGAAAATAATCTATCTGCCATATGCCTTGTAAAG
Seq A exon
CTGGATAGTTCTCGAACATATTCTCTAGATGAATTTTGTGAAGAGCAGTTACAGCAAGCTACCCAGGCATTGAAACAACTTGAGGACATCAGGAATAAAGCAATTTCAGAGATGAAAAGTACTTTTCTAAAG
Seq C2 exon
AACATTCAAGGACAACTCTTTTCCTACTGGAAAGACAACAAATGATTGTGAAGAACTTGTTGATAATTCAAAGTTACATGCTATTTCTGTTCAAAAGTCAGAAGTAAAAACAGACACTGATATTAATGAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000185842_MULTIEX2-5/72=4-7
Average complexity
C3*
Mappability confidence:
100%=100=100%
Protein Impact
Alternative protein isoforms (No Ref)
No structure available
Features
Disorder rate (Iupred):
C1=0.000 A=0.000 C2=0.045
Domain overlap (PFAM):
C1:
NO
A:
NO
C2:
NO
Main Skipping Isoform:
ENST00000430092fB13959
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:
TTTGGCTGATGACTTGTTTCAAACC
R:
ATCAGTGTCTGTTTTTACTTCTGACT
Band lengths:
242-374
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