HsaEX6024410 @ hg38
Exon Skipping
Gene
ENSG00000141338 | ABCA8
Description
ATP binding cassette subfamily A member 8 [Source:HGNC Symbol;Acc:HGNC:38]
Coordinates
chr17:68876628-68881211:-
Coord C1 exon
chr17:68881120-68881211
Coord A exon
chr17:68877519-68877679
Coord C2 exon
chr17:68876628-68876703
Length
161 bp
Sequences
Splice sites
3' ss Seq
GAGGGAACTTTCATCTGCAGGTG
3' ss Score
6.86
5' ss Seq
ACGGTACAC
5' ss Score
5.08
Exon sequences
Seq C1 exon
GTGAAGTTTTAGGATTATTAGGACACAATGGAGCTGGTAAAAGCACATCCATTAAGGTGATAACTGGAGACACAAAACCAACTGCTGGACAA
Seq A exon
GTGCTACTGAAAGGGAGCGGTGGAGGGGATGCCCTGGAGTTCCTGGGGTACTGCCCTCAGGAGAACGCGCTGTGGCCCAACCTGACAGTGAGGCAGCACCTGGAGGTGTACGCCGCCGTGAAAGGGCTGAGGAAAGGGGATGCTGAGGTTGCCATCACACG
Seq C2 exon
GTTAGTGGATGCGCTCAAGCTGCAGGACCAGCTGAAGTCTCCCGTGAAGACCTTGTCAGAGGGAATAAAGAGAAAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000141338-'57-71,'57-69,60-71=AN
Average complexity
A_S
Mappability confidence:
90%=83=100%
Protein Impact
ORF disruption upon sequence exclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.151 A=0.019 C2=0.000
Domain overlap (PFAM):
C1:
PF0000522=ABC_tran=FE(21.3=100)
A:
PF0000522=ABC_tran=FE(37.6=100)
C2:
PF0000522=ABC_tran=FE(17.7=100)
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:
AGGATTATTAGGACACAATGGAGCTG
R:
TCTCTTTATTCCCTCTGACAAGGTCT
Band lengths:
155-316
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains