HsaEX0020090 @ hg38
Exon Skipping
Gene
ENSG00000114841 | DNAH1
Description
dynein axonemal heavy chain 1 [Source:HGNC Symbol;Acc:HGNC:2940]
Coordinates
chr3:52388806-52391054:+
Coord C1 exon
chr3:52388806-52388916
Coord A exon
chr3:52389461-52389586
Coord C2 exon
chr3:52390935-52391054
Length
126 bp
Sequences
Splice sites
3' ss Seq
TGAGTCTGGCATCTCCCCAGGGC
3' ss Score
7.36
5' ss Seq
CAGGTGCCC
5' ss Score
5.77
Exon sequences
Seq C1 exon
CTCATCAACGGGCTGTCGGATGAGAAGGTGCGCTGGCAGGAGACGGTGGAGAACCTGCAGTACATGCTCAACAACATCTCCGGCGATGTCCTGGTGGCCGCTGGCTTTGTG
Seq A exon
GGCCAGTACCGCACGGTGCTCTACGACAGCTGGGTCAAGCAGCTCAGGAGCCACAATGTCCCACACACCTCCGAGCCCACGCTAATCGGGACGCTGGGGAACCCTGTGAAGATCCGATCGTGGCAG
Seq C2 exon
ATCGCTGGCCTCCCCAACGACACACTGTCAGTGGAGAACGGGGTCATCAACCAGTTTTCCCAGCGCTGGACCCACTTCATTGACCCTCAGAGCCAGGCCAACAAATGGATCAAGAACATG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000114841_MULTIEX5-2/19=1-3
Average complexity
S*
Mappability confidence:
100%=100=100%
Protein Impact
Alternative protein isoforms (Ref)
No structure available
Features
Disorder rate (Iupred):
C1=0.000 A=0.071 C2=0.000
Domain overlap (PFAM):
C1:
PF127772=MT=FE(12.3=100)
A:
PF127772=MT=PD(17.7=33.3),PF127812=AAA_9=PU(4.3=23.8)
C2:
PF127812=AAA_9=FE(17.0=100)
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Chicken
(galGal3)
No conservation detected
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
CTCATCAACGGGCTGTCGGAT
R:
TCTTGATCCATTTGTTGGCCTGG
Band lengths:
226-352
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