HsaEX6024399 @ hg38
Exon Skipping
Gene
ENSG00000141338 | ABCA8
Description
ATP binding cassette subfamily A member 8 [Source:HGNC Symbol;Acc:HGNC:38]
Coordinates
chr17:68903301-68907879:-
Coord C1 exon
chr17:68907740-68907879
Coord A exon
chr17:68906044-68906163
Coord C2 exon
chr17:68903301-68903499
Length
120 bp
Sequences
Splice sites
3' ss Seq
GCTGTATATGTATTCTTTAGAAC
3' ss Score
6.03
5' ss Seq
CGGGTAAAT
5' ss Score
6.15
Exon sequences
Seq C1 exon
CTTGCAGTTAAATGAAATATGTGTTGAGGAAAACATAACATCACTTGTTAAACAGCACATCCCTGATGCCAAATTATCAGCCAAAAGCGAAGGAAAACTTATTTATACATTACCCTTAGAAAGAACAAATAAATTTCCAG
Seq A exon
AACTTTACAAGGATCTTGATAGCTATCCTGACCTAGGAATTGAGAATTATGGTGTTTCCATGACAACTTTGAATGAAGTATTCCTGAAGCTAGAAGGAAAATCTACAATTAATGAATCGG
Seq C2 exon
ACATTGCTATTTTGGGAGAAGTACAAGCGGAAAAAGCTGACGACACTGAAAGGCTTGTTGAGATGGAACAAGTCCTCTCTTCACTTAACAAGATGAGAAAGACAATAGGTGGTGTGGCTCTCTGGCGACAGCAAATCTGCGCAATTGCAAGGGTTCGCTTGTTAAAGTTAAAGCATGAAAGAAAAGCTCTTTTAGCACT
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000141338-'29-34,'29-31,31-34=AN
Average complexity
A_S
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=0.000
Domain overlap (PFAM):
C1:
NO
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:
AAACAGCACATCCCTGATGCC
R:
CCCTTGCAATTGCGCAGATTT
Band lengths:
244-364
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains