HsaEX6097359 @ hg19
Exon Skipping
Gene
ENSG00000039139 | DNAH5
Description
dynein, axonemal, heavy chain 5 [Source:HGNC Symbol;Acc:2950]
Coordinates
chr5:13886073-13894930:-
Coord C1 exon
chr5:13894759-13894930
Coord A exon
chr5:13891085-13891230
Coord C2 exon
chr5:13886073-13886238
Length
146 bp
Sequences
Splice sites
3' ss Seq
ACTTTTATTTTTTCCCAAAGAGG
3' ss Score
6.23
5' ss Seq
AAGGTCATT
5' ss Score
4.32
Exon sequences
Seq C1 exon
ATGATGCTAGCTGAATATCAGAGAGTGAAGTCAAAAATACCTGCTGCCATTGAGCAATTGATTGTCCCTCACTTGGCCAAAGTGGATGAAGCTCTCCAACCTGGCTTGGCTGCACTGACCTGGACATCACTGAATATTGAGGCTTATTTAGAAAACACTTTTGCAAAGATCA
Seq A exon
AGGACCTGGAGTTGCTGCTTGACAGGGTCAATGATTTGATTGAGTTCCGCATTGATGCCATTCTAGAAGAAATGAGCAGCACGCCTCTTTGTCAGCTTCCCCAGGAGGAGCCACTAACCTGTGAAGAGTTTCTCCAAATGACAAAG
Seq C2 exon
GATCTTTGTGTAAATGGTGCACAAATACTACATTTTAAAAGCTCATTAGTGGAGGAGGCAGTCAATGAGCTTGTAAATATGTTGCTGGATGTGGAAGTTTTATCTGAAGAAGAAAGTGAAAAAATATCCAATGAGAATAGTGTTAATTACAAAAATGAAAGTTCAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000039139-'17-18,'17-17,18-18=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=0.020 C2=0.268
Domain overlap (PFAM):
C1:
PF083857=DHC_N1=PD(8.9=86.2)
A:
NO
C2:
NO
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:
TACCTGCTGCCATTGAGCAAT
R:
TCAGATAAAACTTCCACATCCAGCA
Band lengths:
242-388
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains
Other AS DBs:
FasterDB (Includes CLIP-seq data)
AS-ALPS (AS-induced ALteration of Protein Structure, links to PINs)
APPRIS (Selection of principal isoform)
DEU primates (Only for human)