HsaEX0020193 @ hg38
Exon Skipping
Gene
ENSG00000039139 | DNAH5
Description
dynein axonemal heavy chain 5 [Source:HGNC Symbol;Acc:HGNC:2950]
Coordinates
chr5:13829510-13830775:-
Coord C1 exon
chr5:13830597-13830775
Coord A exon
chr5:13830026-13830213
Coord C2 exon
chr5:13829510-13829704
Length
188 bp
Sequences
Splice sites
3' ss Seq
CATTTAATTTCCTTTCGAAGGAC
3' ss Score
7.65
5' ss Seq
ATGGTAAGG
5' ss Score
9.33
Exon sequences
Seq C1 exon
ATGTTACATCACGCTGGCTCAAGCTCTGGGAATGAGCATGGGGGGAGCCCCTGCTGGACCTGCAGGCACAGGCAAAACAGAAACCACTAAAGACATGGGACGATGCCTCGGGAAATACGTCGTGGTTTTCAATTGTTCAGACCAGATGGATTTCCGAGGACTTGGACGGATTTTTAAGG
Seq A exon
GACTGGCACAGTCTGGATCCTGGGGTTGTTTTGATGAATTTAACCGTATTGATCTACCAGTTCTCTCGGTTGCAGCCCAGCAAATTTCCATTATTCTGACATGTAAAAAGGAGCACAAAAAGTCTTTTATCTTTACTGATGGAGATAATGTGACTATGAACCCTGAATTTGGGCTTTTCTTAACCATG
Seq C2 exon
AATCCTGGCTATGCCGGACGGCAGGAACTCCCTGAAAACTTGAAGATTAATTTCCGCTCAGTGGCCATGATGGTGCCTGACCGTCAGATTATCATAAGGGTGAAGTTGGCTAGTTGTGGCTTCATTGACAACGTTGTTTTGGCCAGGAAGTTTTTCACGCTCTACAAACTGTGTGAGGAGCAGCTTTCTAAGCAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000039139_MULTIEX1-2/2=1-C2
Average complexity
S
Mappability confidence:
100%=100=100%
Protein Impact
ORF disruption upon sequence exclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.148 A=0.000 C2=0.000
Domain overlap (PFAM):
C1:
PF127742=AAA_6=FE(25.9=100)
A:
PF127742=AAA_6=FE(26.7=100)
C2:
PF127742=AAA_6=FE(27.6=100)
Main Skipping Isoform:
NA
Other Inclusion Isoforms:
NA
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
AAAGACATGGGACGATGCCTC
R:
ACTTCCTGGCCAAAACAACGT
Band lengths:
242-430
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