HsaEX0020198 @ hg38
Exon Skipping
Gene
ENSG00000115423 | DNAH6
Description
dynein axonemal heavy chain 6 [Source:HGNC Symbol;Acc:HGNC:2951]
Coordinates
chr2:84704067-84707019:+
Coord C1 exon
chr2:84704067-84704302
Coord A exon
chr2:84705486-84705747
Coord C2 exon
chr2:84706896-84707019
Length
262 bp
Sequences
Splice sites
3' ss Seq
ATATCATGTCTGTCTTTCAGGCC
3' ss Score
11.01
5' ss Seq
CAGGTACAT
5' ss Score
7.79
Exon sequences
Seq C1 exon
GTCCGTAACACTGTGCAGGAGGATGAAGCAACAGCAAAAGTCAAAGCTGAAGAAACCCAAGCAATAGCTGATGATGCTCAAAGAGATCTTGACGAGGCACTACCTGCACTAGATGCTGCCAATAAAGCACTGGATTCCTTAGATAAGGCAGATATATCTGAAATCAGAGTTTTTACAAAGCCCCCAGATTTGGTCATGACAGTAATGGAAGCAATCTCCATTCTTTTGAATGCCAA
Seq A exon
GCCTGATTGGCCATCAGCAAAGCAACTTCTTGGTGACTCTAACTTTCTAAAAAGGCTTTTAGAATATGATAAGGAGAACATAAAGCCTCAGATATTGGCAAAGCTTCAAAAGTATATTAATAATCCTGATTTTGTGCCTGAAAAAGTGGAGAAAGTGTCCAAAGCATGTAAATCTATGTGCATGTGGGTAAGAGCTATGGATTTGTACTCTCGAGTGGTCAAGGTCGTCGAACCAAAAAGACAAAAGCTCCGCGCCGCACAG
Seq C2 exon
GCTGAACTTGACATTACCATGGCTACCCTGAGAGAAAAGCAAGCATTACTAAGACAAGTAGAAGATCAAATACAGGCCTTACAAGATGAATATGACAAAGGTGTAAATGAAAAAGAAAGCCTGG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000115423_MULTIEX1-3/3=2-C2
Average complexity
C1
Mappability confidence:
100%=100=100%
Protein Impact
ORF disruption upon sequence exclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.278 A=0.000 C2=0.000
Domain overlap (PFAM):
C1:
PF127772=MT=FE(23.3=100)
A:
PF127772=MT=FE(26.0=100)
C2:
PF127772=MT=FE(12.2=100)
Main Skipping Isoform:
NA
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Cow
(bosTau6)
No conservation detected
Chicken
(galGal3)
No conservation detected
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
GTGCAGGAGGATGAAGCAACA
R:
AGGCCTGTATTTGATCTTCTACTTGT
Band lengths:
303-565
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Genotype-Tissue Expression Project (GTEx)
- Autistic and control brains
- Pre-implantation embryo development