HsaEX6020698 @ hg38
Exon Skipping
Gene
ENSG00000183914 | DNAH2
Description
dynein axonemal heavy chain 2 [Source:HGNC Symbol;Acc:HGNC:2948]
Coordinates
chr17:7737067-7739938:+
Coord C1 exon
chr17:7737067-7737258
Coord A exon
chr17:7738927-7739014
Coord C2 exon
chr17:7739733-7739938
Length
88 bp
Sequences
Splice sites
3' ss Seq
CGGCCTTTCTCCTGACACAGGTT
3' ss Score
8.02
5' ss Seq
GAGGTGGGA
5' ss Score
4.3
Exon sequences
Seq C1 exon
GATGGCTCTCGTCAAGCACAGTCAAACCTGACCTTTTTGTCAATCCTGAAGGAACCTTACCAGGAGTTGGCTTTCATGAAGCCCAAGGACATCTCTAGCAAGCTCCCTAAGCTGATCAGTCTCATCCGCATCATCTGGGTCAACTCTCCCCACTACAACACTCGGGAGAGACTGACCTCGCTCTTCCGAAAG
Seq A exon
GTTCTCCAGTCGGGGCTGGGTCCTAGATCAGACCAGCATCTTTGCTCAGGTTGATGCCTTTGTGCAGCGCTGCAAGGACCTTATTGAG
Seq C2 exon
GTATGTGACTGTCAGTATCACTTCGCCCGCTGGGAAGATGGCAAGCAGGGTCCCCTTCCTTGCTTCTTTGGTGCCCAGGGGCCACAGATAACACGGAACTTGCTGGAGATTGAGGACATCTTTCATAAAAATCTGCACACGCTGCGAGCCGTTCGCGGGGGTATCCTGGATGTCAAGAACACCTGTTGGCATGAAGACTACAATAA
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000183914_MULTIEX1-2/5=C1-3
Average complexity
C2
Mappability confidence:
100%=100=100%
Protein Impact
In the CDS, with uncertain impact
No structure available
Features
Disorder rate (Iupred):
C1=0.000 A=0.000 C2=0.000
Domain overlap (PFAM):
C1:
PF083857=DHC_N1=FE(40.1=100)
A:
PF083857=DHC_N1=FE(6.0=100)
C2:
PF083857=DHC_N1=PD(1.9=4.3),PF083857=DHC_N1=PU(18.8=89.9)
Other Inclusion 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:
TCTCATCCGCATCATCTGGGT
R:
GTTCCGTGTTATCTGTGGCCC
Band lengths:
172-260
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains