HsaEX6020697 @ hg38
Exon Skipping
Gene
ENSG00000183914 | DNAH2
Description
dynein axonemal heavy chain 2 [Source:HGNC Symbol;Acc:HGNC:2948]
Coordinates
chr17:7738927-7740992:+
Coord C1 exon
chr17:7738927-7739014
Coord A exon
chr17:7739733-7739938
Coord C2 exon
chr17:7740810-7740992
Length
206 bp
Sequences
Splice sites
3' ss Seq
CATGCTGTCTTCTTTTTTAGGTA
3' ss Score
13.95
5' ss Seq
TAAGTGAGG
5' ss Score
2.61
Exon sequences
Seq C1 exon
GTTCTCCAGTCGGGGCTGGGTCCTAGATCAGACCAGCATCTTTGCTCAGGTTGATGCCTTTGTGCAGCGCTGCAAGGACCTTATTGAG
Seq A exon
GTATGTGACTGTCAGTATCACTTCGCCCGCTGGGAAGATGGCAAGCAGGGTCCCCTTCCTTGCTTCTTTGGTGCCCAGGGGCCACAGATAACACGGAACTTGCTGGAGATTGAGGACATCTTTCATAAAAATCTGCACACGCTGCGAGCCGTTCGCGGGGGTATCCTGGATGTCAAGAACACCTGTTGGCATGAAGACTACAATAA
Seq C2 exon
GCTATCAAGCGGACTTATGACAAGAAGGCGGTGGATCTCTACATGCTGTTCAATAGCGAGCTGGCCCTGGTGAACCGTGAACGGAACAAGAAATGGCCAGACCTGGAGCCCTACGTGGCCCAGTATTCCGGAAAGGCGCGCTGGGTGCACATCCTCCGGCGTCGCATCGACAGAGTCATGACC
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000183914_MULTIEX1-3/5=2-C2
Average complexity
C3*
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:
PF083857=DHC_N1=FE(6.0=100)
A:
PF083857=DHC_N1=PD(1.9=4.3),PF083857=DHC_N1=PU(18.8=89.9)
C2:
PF083857=DHC_N1=FE(18.2=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:
GTTCTCCAGTCGGGGCTG
R:
GGTCATGACTCTGTCGATGCG
Band lengths:
271-477
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains