HsaEX0020201 @ hg38
Exon Skipping
Gene
ENSG00000115423 | DNAH6
Description
dynein axonemal heavy chain 6 [Source:HGNC Symbol;Acc:HGNC:2951]
Coordinates
chr2:84813058-84816083:+
Coord C1 exon
chr2:84813058-84813130
Coord A exon
chr2:84813971-84814122
Coord C2 exon
chr2:84815861-84816083
Length
152 bp
Sequences
Splice sites
3' ss Seq
TCCGATTTTCACAATTACAGGAA
3' ss Score
7.99
5' ss Seq
GAGGTATTG
5' ss Score
7.44
Exon sequences
Seq C1 exon
CTGTGGCTCAAAAGAGGACAGCCTAAGTCCTACTGGATCTCTGGTTTCTTCTTTCCTCAAGGATTTCTAACAG
Seq A exon
GAACTCTTCAAAATCATGCTCGAAAATACAATTTGCCTATAGATGAGCTGAGTTTCAAATACAGCGTAATTCCCACCTATCGGGATCAAGCTGCAGTGATAGAAGCTGCCAAGACAGTGCAATTTGGACAAGAACTGCCCATGGACATGGAG
Seq C2 exon
TTGCCCTCTCCTGAGGATGGTGTTCTTGTTCATGGGATGTTCATGGATGCTTCTCGATGGGATGATAAGGAGATGGTGATAGAAGATGCATTGCCCGGACAGATGAATCCAGTGCTGCCTGTGGTGCATTTTGAACCACAACAAAACTATAAGCCAAGCCCAACACTTTACCACTGCCCACTTTATAAAACAGGAGCCCGGGCAGGAACACTCTCAACCACAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000115423_CASSETTE5
Average complexity
S
Mappability confidence:
100%=100=100%
Protein Impact
ORF disruption upon sequence exclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.000 A=0.020 C2=0.000
Domain overlap (PFAM):
C1:
PF0302810=Dynein_heavy=FE(3.2=100)
A:
PF0302810=Dynein_heavy=FE(6.6=100)
C2:
PF0302810=Dynein_heavy=FE(9.8=100)
Main Skipping Isoform:
NA
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Cow
(bosTau6)
No conservation detected
Chicken
(galGal4)
No conservation detected
Chicken
(galGal3)
No conservation detected
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
TGTGGCTCAAAAGAGGACAGC
R:
GCAGTGGTAAAGTGTTGGGCT
Band lengths:
249-401
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- The Cancer Genome Atlas (TCGA)
- Genotype-Tissue Expression Project (GTEx)
- Autistic and control brains
- Pre-implantation embryo development