HsaEX6014172 @ hg38
Exon Skipping
Gene
ENSG00000115423 | DNAH6
Description
dynein axonemal heavy chain 6 [Source:HGNC Symbol;Acc:HGNC:2951]
Coordinates
chr2:84699594-84703562:+
Coord C1 exon
chr2:84699594-84699734
Coord A exon
chr2:84701097-84701339
Coord C2 exon
chr2:84703395-84703562
Length
243 bp
Sequences
Splice sites
3' ss Seq
GATTTTTCCTTGATTCACAGTGG
3' ss Score
6.12
5' ss Seq
TCAGTAGGT
5' ss Score
4.29
Exon sequences
Seq C1 exon
GTGTTTCAATACTTTATCAGCAAAGTGCGTCAGAAGCTGCACATTGTTCTCTGCATGAGCCCAGTTGGGGAGGCCTTTCGGTCCCGATGCAGGATGTTTCCATCCCTTGTGAATTGCTGCACCATTGACTGGTTTGTGCAG
Seq A exon
TGGCCCAGAGAAGCACTTCTTTCTGTGTCAAAGACATTTTTCTCACAAGTCGATGCTGGAAATGAAGAACTGAAAGAAAAGCTTCCCTTGATGTGCGTGAACGTTCACTTGAGTGTCTCCAGCATGGCAGAGCGCTATTACAATGAGCTGCGCAGGCGGTACTACACGACACCCACCTCCTACCTGGAGCTTATCAATCTTTACCTGTCTATGCTGTCTGAAAAAAGGAAGCAGATTATTTCA
Seq C2 exon
GCACGAGATCGGGTGAAGAATGGTCTCACCAAGCTACTAGAAACAAACATACTAGTAGATAAAATGAAACTAGATCTTTCAGCTTTAGAGCCTGTACTTTTAGCAAAATCAGAAGATGTTGAAGCCCTGATGGAAAAATTGGCAGTGGATCAAGAAAGTGCCGATCAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000115423-'67-71,'67-69,68-71=AN
Average complexity
A_C1
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=0.070
Domain overlap (PFAM):
C1:
PF127802=AAA_8=FE(17.0=100)
A:
PF127802=AAA_8=PD(26.3=87.7)
C2:
PF139001=GVQW=PD(9.1=33.3)
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:
GTTTCAATACTTTATCAGCAAAGTGC
R:
TCGGCACTTTCTTGATCCACTG
Band lengths:
303-546
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains