HsaEX6020660 @ hg38
Exon Skipping
Gene
ENSG00000183914 | DNAH2
Description
dynein axonemal heavy chain 2 [Source:HGNC Symbol;Acc:HGNC:2948]
Coordinates
chr17:7791917-7792855:+
Coord C1 exon
chr17:7791917-7792069
Coord A exon
chr17:7792252-7792343
Coord C2 exon
chr17:7792657-7792855
Length
92 bp
Sequences
Splice sites
3' ss Seq
GACCTACATGCCCTCCTTAGGAC
3' ss Score
7.79
5' ss Seq
AAAGTAAGA
5' ss Score
6.91
Exon sequences
Seq C1 exon
GTGAACCCAGCTGACGGCGAGAACTATGTCACCATGGTAGAGATGACATTTGTGTTCAGCATGATCTGGTCTGTGTGTGCCTCTGTGGATGAGGAGGGCCGGAAGAGGATCGACAGCTACCTCCGAGAGATCGAGGGCTCCTTTCCCAATAAG
Seq A exon
GACACGGTATATGAGTATTTTGTGGACCCCAAAATACGGAGTTGGACATCATTTGAGGACAAGCTCCCTAAGAGTTGGCGCTACCCTCCAAA
Seq C2 exon
CGCCCCCTTCTATAAGATCATGGTGCCCACCGTCGACACTGTTCGCTACAACTACCTGGTGAGCAGCTTGGTGGCCAACCAGAATCCCATTCTGCTGGTGGGTCCCGTGGGGACTGGGAAGACCTCCATCGCCCAGAGCGTTCTGCAGTCCCTGCCCTCCAGCCAGTGGTCGGTGCTCGTTGTCAACATGTCCGCACAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000183914-'61-64,'61-63,62-64=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=0.000 C2=0.000
Domain overlap (PFAM):
C1:
NO
A:
PF127752=AAA_7=PU(1.8=16.1)
C2:
PF127752=AAA_7=FE(24.4=100)
Main Skipping Isoform:
NA
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Chicken
(galGal4)
No conservation detected
Chicken
(galGal3)
No conservation detected
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
GTGTGTGCCTCTGTGGATGAG
R:
CCCACCAGCAGAATGGGATTC
Band lengths:
183-275
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains