HsaEX6037018 @ hg38
Exon Skipping
Gene
ENSG00000185842 | DNAH14
Description
dynein axonemal heavy chain 14 [Source:HGNC Symbol;Acc:HGNC:2945]
Coordinates
chr1:225257960-225270866:+
Coord C1 exon
chr1:225257960-225258118
Coord A exon
chr1:225259121-225259253
Coord C2 exon
chr1:225270735-225270866
Length
133 bp
Sequences
Splice sites
3' ss Seq
TTGTGTATTTTTTCCCTTAGGAG
3' ss Score
10.03
5' ss Seq
AAGGTTGTA
5' ss Score
-0.35
Exon sequences
Seq C1 exon
GAACTTCATTACTAACTAATCTTCAAAGATCTGGCGGAAACTTCTTGAAGATAACAGAATGTGGAGAATGCATTAATTATACCGCTACCAGAGACACAACATGCCTTTCTTTTCTCATGAGCCTTCTTTTAAAGAATTCCTGCCCTGTACTTCTCACAG
Seq A exon
GAGAATCTGGTGTTGGGAAAACTGCTGCCATTAATCAAATGCTTGAAAAGCTAGAGGGTCCAGGAGCATTTGACATAAAACATGGTTCAATTTTAGGAGACACCCTATTATATAGTGAAATAAAAAAATCAAG
Seq C2 exon
AATATTCAAGATCTGTCTATAGTTGCAGCTTGTGTTCCAGTTGTGAATGATATCAGCCCACGTCTTCTCAAACACTTTTCCATGCTGGTATTACCTCATCCTTCACAAGACATCTTATGTACTATTTTCCAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000185842_MULTIEX2-46/72=45-50
Average complexity
C3
Mappability confidence:
97%=98=100%
Protein Impact
ORF disruption upon sequence exclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.000 A=0.000 C2=0.000
Domain overlap (PFAM):
C1:
PF127752=AAA_7=PU(50.8=55.6)
A:
PF127752=AAA_7=PD(47.5=62.2)
C2:
PF127752=AAA_7=PD(15.3=86.4)
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:
TCTTCAAAGATCTGGCGGAAACT
R:
AGGATGAGGTAATACCAGCATGGA
Band lengths:
242-375
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains