HsaEX6024396 @ hg38
Exon Skipping
Gene
ENSG00000141338 | ABCA8
Description
ATP binding cassette subfamily A member 8 [Source:HGNC Symbol;Acc:HGNC:38]
Coordinates
chr17:68917361-68918546:-
Coord C1 exon
chr17:68918427-68918546
Coord A exon
chr17:68918047-68918185
Coord C2 exon
chr17:68917361-68917451
Length
139 bp
Sequences
Splice sites
3' ss Seq
TATACTTTCCTCGTTTATAGATT
3' ss Score
9.9
5' ss Seq
CGGGTAATC
5' ss Score
4.59
Exon sequences
Seq C1 exon
ATACAAAGGGTTCTGCTGGAATTGGAAATGAAAAATATTCAGGATGTTCTTGCTCAAAACTTAAGTGGTGGACAGAAAAGAAAGCTAACCTTTGGGATTGCCATTTTAGGAGATCCTCAG
Seq A exon
ATTTTCCTGTTGGATGAACCAACTGCTGGATTGGATCCCTTTTCAAGACACCAAGTATGGAACCTTCTGAAAGAACGCAAAACAGACCGCGTGATCCTCTTCAGTACCCAGTTCATGGATGAGGCCGACATCCTGGCGG
Seq C2 exon
ACAGGAAAGTATTTCTCTCCCAAGGGAAGCTAAAGTGCGCGGGCTCTTCTTTGTTTCTAAAGAAGAAATGGGGGATTGGATATCACTTAAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000141338-'24-27,'24-26,26-27=AN
Average complexity
A_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=FE(26.5=100)
A:
PF0000522=ABC_tran=FE(29.5=100)
C2:
PF0000522=ABC_tran=PD(7.1=35.5)
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:
TACAAAGGGTTCTGCTGGAATTGG
R:
CTTAAGTGATATCCAATCCCCCA
Band lengths:
210-349
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains