HsaEX6097377 @ hg38
Exon Skipping
Gene
ENSG00000039139 | DNAH5
Description
dynein axonemal heavy chain 5 [Source:HGNC Symbol;Acc:HGNC:2950]
Coordinates
chr5:13830597-13841130:-
Coord C1 exon
chr5:13840906-13841130
Coord A exon
chr5:13839356-13839528
Coord C2 exon
chr5:13830597-13830775
Length
173 bp
Sequences
Splice sites
3' ss Seq
ATATACCTTTTGAATTTCAGTGT
3' ss Score
6.77
5' ss Seq
CAGGTGATG
5' ss Score
5.99
Exon sequences
Seq C1 exon
GTTGGATTATTAGGAATTCAGATGATATGGACACGGGATTCAGAAGAAGCCCTTAGAAATGCCAAGTTTGATAAAAAAATCATGCAGAAAACTAATCAGGCTTTCCTGGAGCTACTCAATACATTGATAGACGTCACCACGAGGGATCTGAGTTCCACGGAACGAGTGAAATACGAGACTCTGATTACTATTCATGTGCACCAAAGGGATATCTTTGATGACCTG
Seq A exon
TGTCATATGCATATCAAGAGTCCCATGGACTTTGAGTGGCTGAAACAGTGCAGATTTTACTTTAACGAAGATTCTGACAAGATGATGATTCACATCACAGATGTGGCGTTCATATACCAGAATGAATTTTTAGGCTGCACTGACAGGCTTGTAATAACTCCACTTACAGACAG
Seq C2 exon
ATGTTACATCACGCTGGCTCAAGCTCTGGGAATGAGCATGGGGGGAGCCCCTGCTGGACCTGCAGGCACAGGCAAAACAGAAACCACTAAAGACATGGGACGATGCCTCGGGAAATACGTCGTGGTTTTCAATTGTTCAGACCAGATGGATTTCCGAGGACTTGGACGGATTTTTAAGG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000039139-'51-52,'51-48,52-52
Average complexity
S
Mappability confidence:
100%=100=100%
Protein Impact
ORF disruption upon sequence exclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.000 A=0.000 C2=0.148
Domain overlap (PFAM):
C1:
NO
A:
PF127742=AAA_6=PU(8.2=32.8)
C2:
PF127742=AAA_6=FE(25.9=100)
Main Skipping Isoform:
NA
Other Inclusion Isoforms:
NA
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Primers PCR
Suggestions for RT-PCR validation
F:
GAGGGATCTGAGTTCCACGGA
R:
TCCGTCCAAGTCCTCGGAAAT
Band lengths:
255-428
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains