HsaEX6097390 @ hg38
Exon Skipping
Gene
ENSG00000039139 | DNAH5
Description
dynein axonemal heavy chain 5 [Source:HGNC Symbol;Acc:HGNC:2950]
Coordinates
chr5:13791994-13794058:-
Coord C1 exon
chr5:13793936-13794058
Coord A exon
chr5:13793515-13793728
Coord C2 exon
chr5:13791994-13792217
Length
214 bp
Sequences
Splice sites
3' ss Seq
CTGAAAGTTGTCTTTTGTAGGTT
3' ss Score
7.25
5' ss Seq
TTGGTAAAG
5' ss Score
4.05
Exon sequences
Seq C1 exon
AGGACGATAGAGAGCTATGTGGATAAACGAATGGGTACAACATATGGCCCTCCTGCGGGAAAGAAGATGACTGTTTTTATTGATGATGTGAATATGCCAATAATCAATGAGTGGGGAGATCAG
Seq A exon
GTTACGAATGAGATAGTGCGACAGCTGATGGAACAAAATGGATTCTATAATCTAGAGAAGCCTGGGGAGTTCACCAGCATCGTGGACATCCAGTTTTTGGCAGCCATGATCCATCCTGGTGGTGGACGCAATGACATACCCCAAAGACTCAAGAGGCAGTTCTCTATATTTAATTGCACGTTGCCCTCTGAAGCTTCTGTGGACAAGATCTTTG
Seq C2 exon
GTGTGATTGGGGTAGGCCACTACTGTACTCAGAGGGGTTTCTCAGAAGAAGTGAGAGATTCTGTGACAAAATTGGTGCCTCTGACACGCCGACTATGGCAGATGACCAAGATTAAAATGCTTCCTACCCCTGCAAAATTCCATTATGTGTTTAACCTACGAGATCTTTCTCGGGTCTGGCAGGGAATGCTGAACACTACTTCAGAGGTCATCAAGGAACCAAAT
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000039139-'70-69,'70-68,71-69
Average complexity
S
Mappability confidence:
100%=100=100%
Protein Impact
ORF disruption upon sequence exclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.005 A=0.000 C2=0.000
Domain overlap (PFAM):
C1:
PF127752=AAA_7=FE(14.7=100)
A:
PF127752=AAA_7=FE(26.1=100)
C2:
PF127752=AAA_7=FE(27.2=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:
CCTCCTGCGGGAAAGAAGATG
R:
TGGTTCCTTGATGACCTCTGA
Band lengths:
296-510
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains