HsaEX6097392 @ hg38
Exon Skipping
Gene
ENSG00000039139 | DNAH5
Description
dynein axonemal heavy chain 5 [Source:HGNC Symbol;Acc:HGNC:2950]
Coordinates
chr5:13786179-13792217:-
Coord C1 exon
chr5:13791994-13792217
Coord A exon
chr5:13788716-13788914
Coord C2 exon
chr5:13786179-13786351
Length
199 bp
Sequences
Splice sites
3' ss Seq
TTTAATTATACTTTCAACAGGAT
3' ss Score
8.1
5' ss Seq
CAGGTAAAC
5' ss Score
7.82
Exon sequences
Seq C1 exon
GTGTGATTGGGGTAGGCCACTACTGTACTCAGAGGGGTTTCTCAGAAGAAGTGAGAGATTCTGTGACAAAATTGGTGCCTCTGACACGCCGACTATGGCAGATGACCAAGATTAAAATGCTTCCTACCCCTGCAAAATTCCATTATGTGTTTAACCTACGAGATCTTTCTCGGGTCTGGCAGGGAATGCTGAACACTACTTCAGAGGTCATCAAGGAACCAAAT
Seq A exon
GATCTGTTAAAGCTGTGGAAGCATGAGTGTAAACGTGTTATAGCTGACCGTTTCACAGTGTCCAGTGATGTGACCTGGTTTGATAAGGCTTTAGTAAGTTTGGTAGAGGAGGAGTTTGGTGAAGAGAAAAAACTCTTGGTGGATTGTGGAATTGACACATATTTTGTGGATTTCTTGAGAGATGCACCTGAAGCTGCAG
Seq C2 exon
GTGAAACATCTGAAGAGGCTGATGCTGAAACACCTAAAATTTATGAGCCAATTGAATCTTTTAGTCACCTAAAAGAGCGTCTGAATATGTTCCTGCAGCTCTATAATGAGAGCATCCGTGGCGCCGGCATGGACATGGTGTTCTTTGCAGATGCCATGGTTCACTTAGTCAAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000039139_CASSETTE3
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=0.015 C2=0.172
Domain overlap (PFAM):
C1:
PF127752=AAA_7=FE(27.2=100)
A:
PF127752=AAA_7=PD(2.9=11.9)
C2:
PF127802=AAA_8=PU(8.4=39.7)
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:
TGGGGTAGGCCACTACTGTAC
R:
GGTGTTTCAGCATCAGCCTCT
Band lengths:
251-450
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains