HsaEX6097408 @ hg38
Exon Skipping
Gene
ENSG00000039139 | DNAH5
Description
dynein axonemal heavy chain 5 [Source:HGNC Symbol;Acc:HGNC:2950]
Coordinates
chr5:13729439-13735932:-
Coord C1 exon
chr5:13735818-13735932
Coord A exon
chr5:13735131-13735321
Coord C2 exon
chr5:13729439-13729560
Length
191 bp
Sequences
Splice sites
3' ss Seq
TTAAATATTCTATTCACCAGGTC
3' ss Score
7.2
5' ss Seq
AAGGTCAAT
5' ss Score
3.77
Exon sequences
Seq C1 exon
TGGCTACGCGGGGCAGCATCCTCTACTTCCTCATTACTGAGATGCGCTTGGTTAATGAGATGTATCAGACTTCGCTTCGCCAGTTTCTGGGCTTATTTGACCTTTCCTTAGCCAG
Seq A exon
GTCTGTCAAGAGCCCGATTACAAGCAAGAGGATTGCTAATATCATCGAGCACATGACCTACGAGGTTTATAAGTATGCTGCCCGAGGGCTGTACGAGGAGCACAAATTCCTGTTCACCTTGTTGCTTACCCTAAAGATTGACATCCAGAGGAACCGAGTCAAGCATGAAGAGTTTCTCACTCTTATTAAAG
Seq C2 exon
GAGGTGCCTCATTAGACCTTAAAGCTTGTCCTCCAAAACCATCAAAATGGATCCTGGACATAACATGGCTGAATTTGGTGGAACTTAGCAAACTCAGACAGTTTTCAGATGTCCTTGACCAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000039139-'94-94,'94-93,95-94=AN
Average complexity
A_C1
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=0.000
Domain overlap (PFAM):
C1:
NO
A:
NO
C2:
PF0302810=Dynein_heavy=PU(20.4=82.9)
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:
GGGCAGCATCCTCTACTTCCT
R:
TGGTCAAGGACATCTGAAAACTGT
Band lengths:
226-417
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains