HsaEX6047036 @ hg38
Exon Skipping
Gene
ENSG00000124721 | DNAH8
Description
dynein axonemal heavy chain 8 [Source:HGNC Symbol;Acc:HGNC:2952]
Coordinates
chr6:38886791-38894864:+
Coord C1 exon
chr6:38886791-38887004
Coord A exon
chr6:38890652-38890761
Coord C2 exon
chr6:38894701-38894864
Length
110 bp
Sequences
Splice sites
3' ss Seq
CAATCTTGCTTATCTTTCAGGAA
3' ss Score
9.73
5' ss Seq
AAGGTACAG
5' ss Score
8.04
Exon sequences
Seq C1 exon
ATAACTAATGAGATTGTGCGACAGATGATGGAAATGGAAGGAATGTACAGCTTGGACAAGCCTGGAGACTTCACTACTATTGTTGATGTGCAGCTCATAGCAGCAATGATCCACCCTGGAGGTGGTCGAAATGATATTCCACAACGTTTAAAAAGACAATTTACTGTGTTTAATTGTACATTGCCTTCAAATGCTTCAATAGACAAAATTTTTG
Seq A exon
GAATTATTGGATGTGGATACTTTGATCCTTGTAGAAGTTTCAAGCCTCAAATATGTGAGATGATTGTGAATTTAGTCTCAGTGGGTAGAGTGCTGTGGCAATGGACTAAG
Seq C2 exon
GTGAAGATGCTGCCAACTCCTTCTAAATTTCATTACATCTTCAATCTTCGAGATCTTTCCAGAATTTGGCAAGGAATGTTGACCATAAAAGCTGAGGAGTGCGCTTCAATCCCTACTCTCCTGTCCCTTTTCAAACACGAGTGCAGCAGAGTAATTGCAGACAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000124721-'69-70,'69-69,71-70=AN
Average complexity
A_S
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:
PF127752=AAA_7=FE(26.0=100)
A:
PF127752=AAA_7=FE(13.2=100)
C2:
PF127752=AAA_7=PD(16.8=83.6)
Main Skipping Isoform:
ENST00000327475fB14007
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
CCCTGGAGGTGGTCGAAATGA
R:
CTCTGCTGCACTCGTGTTTGA
Band lengths:
252-362
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains