HsaEX6097402 @ hg38
Exon Skipping
Gene
ENSG00000039139 | DNAH5
Description
dynein axonemal heavy chain 5 [Source:HGNC Symbol;Acc:HGNC:2950]
Coordinates
chr5:13753233-13758983:-
Coord C1 exon
chr5:13758846-13758983
Coord A exon
chr5:13754203-13754338
Coord C2 exon
chr5:13753233-13753549
Length
136 bp
Sequences
Splice sites
3' ss Seq
GTGATTATGACCTTTGTTAGACC
3' ss Score
1.75
5' ss Seq
TAGGTATGT
5' ss Score
7.76
Exon sequences
Seq C1 exon
GCCAACTTGGTGGTGCAAGAGAATCGCCATCTCCTGGCCATGCAGGATCTGCAGAAAGCCCAGGCCGAGTTGGATGACAAGCAGGCGGAACTTGACGTGGTGCAGGCTGAGTATGAACAGGCCATGACTGAAAAGCAG
Seq A exon
ACCTTGCTTGAAGATGCAGAGCGATGCAGACACAAGATGCAGACAGCTTCCACGCTCATCAGTGGCTTGGCAGGTGAAAAAGAAAGATGGACAGAGCAAAGCCAAGAGTTTGCTGCACAAACTAAAAGACTTGTAG
Seq C2 exon
GGGATGTACTGTTGGCTACAGCTTTTCTATCTTATTCTGGTCCATTTAACCAAGAGTTTCGTGATCTTCTGTTAAATGACTGGCGGAAGGAAATGAAAGCCCGGAAAATTCCATTTGGAAAGAACCTAAATCTCAGTGAGATGTTGATTGATGCTCCTACTATTAGTGAATGGAACCTCCAAGGTCTGCCAAATGATGACTTGTCCATTCAAAATGGAATTATTGTCACGAAGGCATCTCGTTACCCTTTGTTAATTGATCCACAGACTCAAGGCAAGATCTGGATTAAAAATAAAGAAAGCCGAAATGAACTCCAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000039139-'87-86,'87-85,88-86=AN
Average complexity
A_S
Mappability confidence:
100%=100=100%
Protein Impact
ORF disruption upon sequence exclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.000 A=0.043 C2=0.000
Domain overlap (PFAM):
C1:
PF127772=MT=FE(12.9=100)
A:
PF127772=MT=FE(12.9=100)
C2:
PF127772=MT=PD(8.6=28.3),PF127812=AAA_9=PU(25.1=54.7)
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:
CCAACTTGGTGGTGCAAGAGA
R:
TCCGGGCTTTCATTTCCTTCC
Band lengths:
242-378
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains