HsaEX6020699 @ 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
chr17:7737963-7738120
Coord C2 exon
chr17:7739733-7739938
Length
158 bp
Sequences
Splice sites
3' ss Seq
TGTGGGGACTCCTTCTGCAGATG
3' ss Score
7.87
5' ss Seq
CCAGTATGA
5' ss Score
2.36
Exon sequences
Seq C1 exon
GATGGCTCTCGTCAAGCACAGTCAAACCTGACCTTTTTGTCAATCCTGAAGGAACCTTACCAGGAGTTGGCTTTCATGAAGCCCAAGGACATCTCTAGCAAGCTCCCTAAGCTGATCAGTCTCATCCGCATCATCTGGGTCAACTCTCCCCACTACAACACTCGGGAGAGACTGACCTCGCTCTTCCGAAAG
Seq A exon
ATGAGCAATGAGATCATCCGCTTATGCTGCCACGCCATCTCCCTGGACCGGATCTTTGAGGGATATGTCTCTTCCAGCAAGGAGGACCTGCAAGGCTGCATTCTCTGTTGTCACGCTTGGAAAGATCACTACGTACAGGCTGTGCAGATGCACATCCA
Seq C2 exon
GTATGTGACTGTCAGTATCACTTCGCCCGCTGGGAAGATGGCAAGCAGGGTCCCCTTCCTTGCTTCTTTGGTGCCCAGGGGCCACAGATAACACGGAACTTGCTGGAGATTGAGGACATCTTTCATAAAAATCTGCACACGCTGCGAGCCGTTCGCGGGGGTATCCTGGATGTCAAGAACACCTGTTGGCATGAAGACTACAATAA
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000183914_MULTIEX1-1/5=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(10.7=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:
TTGACATCCAGGATACCCCCG
Band lengths:
249-407
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains