HsaEX0020195 @ hg38
Exon Skipping
Gene
ENSG00000039139 | DNAH5
Description
dynein axonemal heavy chain 5 [Source:HGNC Symbol;Acc:HGNC:2950]
Coordinates
chr5:13708123-13717520:-
Coord C1 exon
chr5:13717315-13717520
Coord A exon
chr5:13714405-13714620
Coord C2 exon
chr5:13708123-13708335
Length
216 bp
Sequences
Splice sites
3' ss Seq
CTGGGGTGTCTGTTGTTCAGAGT
3' ss Score
5.26
5' ss Seq
GAAGTGAGT
5' ss Score
7.97
Exon sequences
Seq C1 exon
GTGTCAGCCAAGACCTGCTGGACGTGAGCTCTGGGTCCCAGTGGAAGCCCATGCTGTACGCAGTGGCTTTCCTGCACTCCACTGTCCAGGAGAGGCGCAAGTTCGGTGCCCTGGGGTGGAATATCCCCTACGAATTTAACCAAGCGGACTTTAATGCCACTGTGCAGTTCATCCAAAACCACTTGGATGACATGGATGTCAAAAAG
Seq A exon
AGTTTGCCTGCCTATGACAGCCCTGAGGTGTTTGGGCTGCACCCCAATGCTGACATCACCTACCAGAGCAAGCTGGCCAAGGACGTGCTGGACACCATCCTAGGCATCCAACCCAAGGACACCTCTGGTGGAGGGGATGAGACCCGGGAGGCGGTGGTGGCCCGGCTGGCTGATGATATGCTGGAGAAGCTGCCCCCAGACTATGTCCCCTTTGAA
Seq C2 exon
GTAAAAGAGAGGCTGCAGAAGATGGGGCCATTCCAGCCTATGAACATTTTCCTCAGGCAGGAAATAGACAGAATGCAAAGGGTACTCAGCCTTGTCCGCAGCACCCTCACTGAGCTGAAACTTGCTATTGATGGCACCATCATCATGAGCGAAAATCTGCGAGATGCATTGGATTGCATGTTTGATGCTAGAATCCCTGCTTGGTGGAAAAAA
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000039139_MULTIEX4-2/2=C1-C2
Average complexity
C2
Mappability confidence:
100%=100=100%
Protein Impact
Alternative protein isoforms (Ref)
No structure available
Features
Disorder rate (Iupred):
C1=0.000 A=0.097 C2=0.000
Domain overlap (PFAM):
C1:
PF0302810=Dynein_heavy=FE(9.8=100)
A:
PF0302810=Dynein_heavy=FE(10.2=100)
C2:
PF0302810=Dynein_heavy=FE(10.1=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:
CTTTCCTGCACTCCACTGTCC
R:
TTCGCTCATGATGATGGTGCC
Band lengths:
293-509
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