HsaEX0020197 @ hg38
Exon Skipping
Gene
ENSG00000115423 | DNAH6
Description
dynein axonemal heavy chain 6 [Source:HGNC Symbol;Acc:HGNC:2951]
Coordinates
chr2:84658292-84669510:+
Coord C1 exon
chr2:84658292-84658474
Coord A exon
chr2:84659026-84659169
Coord C2 exon
chr2:84669289-84669510
Length
144 bp
Sequences
Splice sites
3' ss Seq
GTTTCTCTTTATTCTTTCAGGAA
3' ss Score
10.58
5' ss Seq
AGGGTAAGA
5' ss Score
9.21
Exon sequences
Seq C1 exon
CTGACTGAGGAAACCCAAGAATATATATTGAATCTTTTCCAACGTTATGTTGATGAAGGTTTACATTTTATCAATAAAAAGTGCAGCCAAGCAATTCCACAAGTGGACATCAGCAAAGTTACTACACTCTGTTGCTTATTGGAGTCCTTGATACTTGGGAAAGATGGAGTTAACTTGGCAATG
Seq A exon
GAACAAACAAAATTGAACACTATACTATGTCAGACTTTTGTATTCTGTTATTTGTGGTCTTTGGGTGGAAACCTAACTGAAAACTACTATGATTCTTTTGATACATTTATTAGAACACAATTTGATGATAATCCTGATGCCAGG
Seq C2 exon
CTTCCCAATTCTGGTGATCTGTGGAGCATTCATATGGACTTTGACACCAAACGGCTGGATCCCTGGGAACGAATCATACCTACTTTCAAATACAACCGAGATGTTCCATTTTTTGAAATGCTTGTCCCCACAACTGACACAGTGCGCTATGGGTATCTAATGGAAAAACTACTGGCAGTCAAGCATTCCGTGTTGTTTACTGGAATAACTGGAGTGGGCAAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000115423-'49-53,'49-52,50-53
Average complexity
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:
NO
A:
NO
C2:
PF127752=AAA_7=PU(16.5=60.8)
Main Skipping Isoform:
NA
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Cow
(bosTau6)
No conservation detected
Chicken
(galGal4)
No conservation detected
Chicken
(galGal3)
No conservation detected
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
GCAGCCAAGCAATTCCACAAG
R:
CCATAGCGCACTGTGTCAGTT
Band lengths:
253-397
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains
- Pre-implantation embryo development