HsaEX0020164 @ hg38
Exon Skipping
Gene
ENSG00000185842 | DNAH14
Description
dynein axonemal heavy chain 14 [Source:HGNC Symbol;Acc:HGNC:2945]
Coordinates
chr1:225153750-225168028:+
Coord C1 exon
chr1:225153750-225153826
Coord A exon
chr1:225159314-225159485
Coord C2 exon
chr1:225167939-225168028
Length
172 bp
Sequences
Splice sites
3' ss Seq
GTTTTCTTCTACCATTGAAGTGA
3' ss Score
5.05
5' ss Seq
GAGGTAAAA
5' ss Score
7.3
Exon sequences
Seq C1 exon
GATCATTATAATTTTGGCTTGAGATCTCTGAAGATAGTTTTAATAATGGCTGGAACGAAGAAACGGGAGTTTAAATG
Seq A exon
TGATACCAGTGACAGTCTTTCTGAAGCAGATGAAACCTTGATTGTTATCGAGGCTATAAGAGAAGCTAGTTTGCCAAAATGTCCTCCTGAAGATGTCCCACTTTTTGAAAATATTATAGGAGATATTTTTCCAGAAGTGACAGTTTTGAAAGTAAATCAACTTGCCTTGGAG
Seq C2 exon
AAAGTAATATATACTGCAACTCAGCAATTGGGTTTACAAAACTGGTCATCTCAGAAAGAGAAGATTATACAGTTTTATAATCAACTTCAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000185842_MULTIEX2-33/72=32-34
Average complexity
C2*
Mappability confidence:
96%=97=100%
Protein Impact
In the CDS, with uncertain impact
No structure available
Features
Disorder rate (Iupred):
C1=0.000 A=0.007 C2=0.000
Domain overlap (PFAM):
C1:
PF127742=AAA_6=PD(10.0=88.5)
A:
NO
C2:
NO
Main Skipping Isoform:
NA
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:
TAATTTTGGCTTGAGATCTCTGAAGA
R:
TCTCTTTCTGAGATGACCAGTTTTGT
Band lengths:
130-302
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