HsaEX6024398 @ hg38
Exon Skipping
Gene
ENSG00000141338 | ABCA8
Description
ATP binding cassette subfamily A member 8 [Source:HGNC Symbol;Acc:HGNC:38]
Coordinates
chr17:68906044-68917451:-
Coord C1 exon
chr17:68917361-68917451
Coord A exon
chr17:68907740-68907879
Coord C2 exon
chr17:68906044-68906163
Length
140 bp
Sequences
Splice sites
3' ss Seq
TTTTTTTTTCTGAATGCCAGCTT
3' ss Score
6.33
5' ss Seq
CAGGTAATG
5' ss Score
9.43
Exon sequences
Seq C1 exon
ACAGGAAAGTATTTCTCTCCCAAGGGAAGCTAAAGTGCGCGGGCTCTTCTTTGTTTCTAAAGAAGAAATGGGGGATTGGATATCACTTAAG
Seq A exon
CTTGCAGTTAAATGAAATATGTGTTGAGGAAAACATAACATCACTTGTTAAACAGCACATCCCTGATGCCAAATTATCAGCCAAAAGCGAAGGAAAACTTATTTATACATTACCCTTAGAAAGAACAAATAAATTTCCAG
Seq C2 exon
AACTTTACAAGGATCTTGATAGCTATCCTGACCTAGGAATTGAGAATTATGGTGTTTCCATGACAACTTTGAATGAAGTATTCCTGAAGCTAGAAGGAAAATCTACAATTAATGAATCGG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000141338-'28-31,'28-30,29-31
Average complexity
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:
PF0000522=ABC_tran=PD(7.1=35.5)
A:
NO
C2:
NO
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:
AGGAAAGTATTTCTCTCCCAAGGGA
R:
TGTAGATTTTCCTTCTAGCTTCAGGA
Band lengths:
196-336
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains