HsaEX6020642 @ hg38
Exon Skipping
Gene
ENSG00000183914 | DNAH2
Description
dynein axonemal heavy chain 2 [Source:HGNC Symbol;Acc:HGNC:2948]
Coordinates
chr17:7817790-7818460:+
Coord C1 exon
chr17:7817790-7817856
Coord A exon
chr17:7817946-7818096
Coord C2 exon
chr17:7818312-7818460
Length
151 bp
Sequences
Splice sites
3' ss Seq
CCTTCCCCCTTGCTCTCTAGGGC
3' ss Score
11.51
5' ss Seq
TCGGTCAGG
5' ss Score
3.77
Exon sequences
Seq C1 exon
GTGGGCACTGATGATCGACCCTCAGGCCCAGGCCCTGAAATGGATTAAGAACATGGAAGGAGGCCAG
Seq A exon
GGCCTGAAGATCATCGACCTGCAGATGAGCGATTACCTGCGAATCCTAGAACACGCCATTCACTTTGGATACCCGGTGCTACTTCAGAACGTGCAGGAATATCTGGACCCCACACTGAACCCCATGCTCAACAAATCTGTAGCCCGAATCG
Seq C2 exon
GTGGTCGGCTGTTGATGCGCATTGGCGATAAGGAGGTGGAATATAATACCAATTTCCGTTTCTACATCACCACCAAGCTCTCCAACCCCCACTACAGCCCAGAGACCTCAGCCAAGACCACCATCGTCAACTTTGCTGTTAAAGAACAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000183914-'85-97,'85-94,86-97=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=0.000 C2=0.020
Domain overlap (PFAM):
C1:
PF127812=AAA_9=FE(9.5=100)
A:
PF127812=AAA_9=FE(21.6=100)
C2:
PF127812=AAA_9=FE(21.2=100)
Main Skipping Isoform:
NA
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
GTGGGCACTGATGATCGACC
R:
TTTAACAGCAAAGTTGACGATGGTG
Band lengths:
210-361
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains