HsaEX6020663 @ hg38
Exon Skipping
Gene
ENSG00000183914 | DNAH2
Description
dynein axonemal heavy chain 2 [Source:HGNC Symbol;Acc:HGNC:2948]
Coordinates
chr17:7786897-7788244:+
Coord C1 exon
chr17:7786897-7787033
Coord A exon
chr17:7787860-7787997
Coord C2 exon
chr17:7788086-7788244
Length
138 bp
Sequences
Splice sites
3' ss Seq
TGACAAACGTATATCCTTAGGTG
3' ss Score
5.96
5' ss Seq
AAGGTATGA
5' ss Score
9.11
Exon sequences
Seq C1 exon
ATGAGAAACCCGACGAGAAGTGGATCCTGTTCGATGGCCCCGTGGACACACTGTGGATCGAGAACATGAACTCCGTCATGGACGATAACAAGGTGTTGACCCTCATCAACGGCGAGCGCATCGCGATGCCCGAGCAG
Seq A exon
GTGTCTCTCCTGTTTGAAGTGGAGGACCTGGCAATGGCCTCTCCGGCCACTGTATCCCGCTGCGGGATGGTCTACACTGACTACGCTGACCTGGGCTGGAAGCCCTATGTTCAGTCATGGCTGGAGAAGAGGCCAAAG
Seq C2 exon
GCTGAGGTGGAGCCCCTTCAACGCATGTTCGAAAAGCTCATCAACAAGATGCTGGCCTTTAAGAAGGACAACTGCAAGGAGCTGGTGCCCCTGCCCGAGTACAGCGGTATCACCTCCCTCTGCAAGCTGTACTCTGCCCTGGCCACGCCAGAGAATGGG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000183914-'56-61,'56-60,59-61=AN
Average complexity
A_S
Mappability confidence:
100%=100=100%
Protein Impact
Alternative protein isoforms (Ref)
No structure available
Features
Disorder rate (Iupred):
C1=0.000 A=0.000 C2=0.000
Domain overlap (PFAM):
C1:
PF077289=AAA_5=FE(31.2=100)
A:
PF077289=AAA_5=PD(13.9=43.5)
C2:
NO
Main Skipping Isoform:
NA
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Chicken
(galGal3)
No conservation detected
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
AGAAACCCGACGAGAAGTGGA
R:
GGGAGGTGATACCGCTGTACT
Band lengths:
252-390
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains