HsaEX0020192 @ hg38
Exon Skipping
Gene
ENSG00000039139 | DNAH5
Description
dynein axonemal heavy chain 5 [Source:HGNC Symbol;Acc:HGNC:2950]
Coordinates
chr5:13777202-13786351:-
Coord C1 exon
chr5:13786179-13786351
Coord A exon
chr5:13780829-13780959
Coord C2 exon
chr5:13777202-13777355
Length
131 bp
Sequences
Splice sites
3' ss Seq
TTTTCTGTTCCATATTACAGATC
3' ss Score
10.36
5' ss Seq
GAGGTGACA
5' ss Score
3.85
Exon sequences
Seq C1 exon
GTGAAACATCTGAAGAGGCTGATGCTGAAACACCTAAAATTTATGAGCCAATTGAATCTTTTAGTCACCTAAAAGAGCGTCTGAATATGTTCCTGCAGCTCTATAATGAGAGCATCCGTGGCGCCGGCATGGACATGGTGTTCTTTGCAGATGCCATGGTTCACTTAGTCAAG
Seq A exon
ATCTCTCGTGTCATTCGTACTCCTCAGGGAAATGCCCTCCTGGTCGGGGTGGGCGGATCAGGAAAGCAGAGCCTGACGAGGTTGGCTTCATTCATTGCTGGCTACGTTTCCTTCCAGATCACTCTGACGAG
Seq C2 exon
ATCCTACAACACATCAAATCTGATGGAAGATCTGAAGGTTTTGTATCGAACAGCTGGTCAGCAAGGCAAAGGAATCACTTTTATTTTCACAGACAATGAGATTAAAGATGAGTCATTTTTGGAATATATGAACAATGTTTTATCATCAGGTGAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000039139_MULTIEX2-2/2=C1-C2
Average complexity
S
Mappability confidence:
100%=100=100%
Protein Impact
ORF disruption upon sequence exclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.172 A=0.000 C2=0.000
Domain overlap (PFAM):
C1:
PF127802=AAA_8=PU(8.4=39.7)
A:
PF127802=AAA_8=FE(15.8=100)
C2:
PF127802=AAA_8=FE(18.7=100)
Main Skipping Isoform:
ENST00000265104fB13988
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:
ACATCTGAAGAGGCTGATGCTG
R:
TTCCTTTGCCTTGCTGACCAG
Band lengths:
242-373
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