HsaEX0020194 @ hg38
Exon Skipping
Gene
ENSG00000039139 | DNAH5
Description
dynein axonemal heavy chain 5 [Source:HGNC Symbol;Acc:HGNC:2950]
Coordinates
chr5:13714405-13717520:-
Coord C1 exon
chr5:13717315-13717520
Coord A exon
chr5:13716487-13716690
Coord C2 exon
chr5:13714405-13714620
Length
204 bp
Sequences
Splice sites
3' ss Seq
TATTCTATAAAATTTCCCAGGGT
3' ss Score
5.05
5' ss Seq
CAGGTTTGT
5' ss Score
7.44
Exon sequences
Seq C1 exon
GTGTCAGCCAAGACCTGCTGGACGTGAGCTCTGGGTCCCAGTGGAAGCCCATGCTGTACGCAGTGGCTTTCCTGCACTCCACTGTCCAGGAGAGGCGCAAGTTCGGTGCCCTGGGGTGGAATATCCCCTACGAATTTAACCAAGCGGACTTTAATGCCACTGTGCAGTTCATCCAAAACCACTTGGATGACATGGATGTCAAAAAG
Seq A exon
GGTGTCTCCTGGACCACCATCCGCTACATGATAGGAGAGATTCAATATGGAGGCAGAGTCACTGACGACTATGATAAGAGATTGTTGAACACATTTGCTAAGGTTTGGTTCAGTGAAAATATGTTTGGACCAGATTTCAGTTTTTACCAAGGATACAATATTCCAAAATGCAGCACAGTGGATAACTATCTTCAGTATATCCAG
Seq C2 exon
AGTTTGCCTGCCTATGACAGCCCTGAGGTGTTTGGGCTGCACCCCAATGCTGACATCACCTACCAGAGCAAGCTGGCCAAGGACGTGCTGGACACCATCCTAGGCATCCAACCCAAGGACACCTCTGGTGGAGGGGATGAGACCCGGGAGGCGGTGGTGGCCCGGCTGGCTGATGATATGCTGGAGAAGCTGCCCCCAGACTATGTCCCCTTTGAA
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000039139_MULTIEX4-1/2=C1-2
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=0.000 C2=0.097
Domain overlap (PFAM):
C1:
PF0302810=Dynein_heavy=FE(9.8=100)
A:
PF0302810=Dynein_heavy=FE(9.6=100)
C2:
PF0302810=Dynein_heavy=FE(10.2=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:
TGGGGTGGAATATCCCCTACG
R:
AAAGGGGACATAGTCTGGGGG
Band lengths:
308-512
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