HsaEX6024391 @ hg38
Exon Skipping
Gene
ENSG00000141338 | ABCA8
Description
ATP binding cassette subfamily A member 8 [Source:HGNC Symbol;Acc:HGNC:38]
Coordinates
chr17:68929049-68932514:-
Coord C1 exon
chr17:68932288-68932514
Coord A exon
chr17:68929561-68929702
Coord C2 exon
chr17:68929049-68929234
Length
142 bp
Sequences
Splice sites
3' ss Seq
ACATTTTGTTTCCACATTAGGCT
3' ss Score
6.77
5' ss Seq
TTGGTGAGT
5' ss Score
9.27
Exon sequences
Seq C1 exon
ATCACAACAAATCACTCAGTGATGGAGGAGCTGATGTCAGTTACTGGAAAAAATATGAAGATGCATTCCTTCATTGGTCAATCAGGAGTTATAACTGATTTGTACCTTTTTTCCTGCATTATTTCATTTTCCTCATTCATTTACTATGCATCTGTTAATGTCACAAGAGAGAGGAAAAGGATGAAGGCCTTGATGACAATGATGGGTCTTCGGGATTCAGCGTTCTG
Seq A exon
GCTCTCCTGGGGTTTGCTCTATGCTGGTTTCATCTTCATTATGGCCCTTTTCTTGGCACTTGTTATAAGATCTACCCAGTTTATCATTTTGTCTGGCTTCATGGTAGTCTTCAGCCTCTTTCTCCTGTATGGATTATCTTTG
Seq C2 exon
GTAGCTTTGGCTTTCTTAATGAGCATCTTGGTAAAGAAATCTTTCCTCACCGGCCTGGTCGTGTTCCTCCTCACTGTCTTTTGGGGGTGTCTGGGGTTCACATCACTGTACAGACACCTTCCTGCATCCTTGGAGTGGATTTTAAGCTTGCTTAGTCCCTTTGCCTTCATGCTTGGAATGGCCCAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000141338-'10-19,'10-11,13-19=AN
Average complexity
A_C3
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:
PF126982=ABC2_membrane_3=FE(19.2=100)
A:
PF126982=ABC2_membrane_3=FE(12.0=100)
C2:
PF126982=ABC2_membrane_3=FE(15.6=100)
Main Skipping Isoform:
ENST00000586539fB8366
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
No suggested primer sequences
R:
No suggested primer sequences
Band lengths:
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains