HsaEX0020214 @ hg38
Exon Skipping
Gene
ENSG00000124721 | DNAH8
Description
dynein axonemal heavy chain 8 [Source:HGNC Symbol;Acc:HGNC:2952]
Coordinates
chr6:38862280-38866677:+
Coord C1 exon
chr6:38862280-38862458
Coord A exon
chr6:38863873-38864060
Coord C2 exon
chr6:38866591-38866677
Length
188 bp
Sequences
Splice sites
3' ss Seq
TTAACTGTTTTTCATGCCAGGTC
3' ss Score
9.98
5' ss Seq
ATGGTGAGA
5' ss Score
7.23
Exon sequences
Seq C1 exon
ATGCTATATCACGTTAGCTCAGGCCTTGGGCATGAACATGGGAGGTGCTCCCGCAGGACCTGCTGGCACTGGCAAAACAGAAACCACAAAAGACATGGGAAGGTGTTTGGGAAAATATGTGGTCGTGTTCAATTGCTCAGATCAAATGGATTTCAGAGGCCTAGGAAGGATTTTCAAAG
Seq A exon
GTCTTGCACAGTCGGGTTCCTGGGGCTGTTTTGATGAGTTTAACAGAATTGAATTGCCTGTATTATCAGTGGCAGCACAACAAATTTATATTGTTTTGACAGCAAGAAAAGAAAGAAAGAAACAGTTCATTTTTTCTGATGGTGATTGTGTTGATTTAAATCCAGAATTTGGAATCTTCTTAACGATG
Seq C2 exon
AACCCTGGATATGCTGGGCGCCAGGAACTACCAGAAAACCTAAAAATCCAGTTTAGAACTGTTGCTATGATGGTTCCTGATAGACAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000124721-'53-55,'53-52,55-55
Average complexity
C2
Mappability confidence:
100%=100=100%
Protein Impact
ORF disruption upon sequence exclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.164 A=0.001 C2=0.000
Domain overlap (PFAM):
C1:
PF127742=AAA_6=FE(25.9=100)
A:
PF127742=AAA_6=FE(26.7=100)
C2:
PF127742=AAA_6=FE(12.1=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:
ATCACGTTAGCTCAGGCCTTG
R:
TCAGGAACCATCATAGCAACAGT
Band lengths:
252-440
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- The Cancer Genome Atlas (TCGA)
- Genotype-Tissue Expression Project (GTEx)
- Autistic and control brains
- Pre-implantation embryo development