HsaEX6024389 @ hg38
Exon Skipping
Gene
ENSG00000141338 | ABCA8
Description
ATP binding cassette subfamily A member 8 [Source:HGNC Symbol;Acc:HGNC:38]
Coordinates
chr17:68932288-68937115:-
Coord C1 exon
chr17:68936951-68937115
Coord A exon
chr17:68933168-68933271
Coord C2 exon
chr17:68932288-68932514
Length
104 bp
Sequences
Splice sites
3' ss Seq
TGATTTGTTTTTTCACAAAGCTC
3' ss Score
5.3
5' ss Seq
GAAGTGAGT
5' ss Score
7.97
Exon sequences
Seq C1 exon
GTAAAGAGGTCTTGGGACTGCCAGATGAGGAAAGTATTAAAGAATTCACAGCAAATTATCCTGAAGAAATAGTAAGAGTCACCTTTACTAATACATACTCATATCATTTGAAGTTCTTGCTAGGACATGGAATGCCAGCAAAGAAGGAGCACAAGGACCATACAG
Seq A exon
CTCATTGTTATGAAACAAATGAAGATGTTTACTGTGAAGTTTCAGTATTTTGGAAGGAAGGTTTTGTGGCTCTTCAAGCTGCCATTAATGCTGCTATTATAGAA
Seq C2 exon
ATCACAACAAATCACTCAGTGATGGAGGAGCTGATGTCAGTTACTGGAAAAAATATGAAGATGCATTCCTTCATTGGTCAATCAGGAGTTATAACTGATTTGTACCTTTTTTCCTGCATTATTTCATTTTCCTCATTCATTTACTATGCATCTGTTAATGTCACAAGAGAGAGGAAAAGGATGAAGGCCTTGATGACAATGATGGGTCTTCGGGATTCAGCGTTCTG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000141338-'8-9,'8-8,9-9
Average complexity
C1
Mappability confidence:
100%=100=100%
Protein Impact
ORF disruption upon sequence exclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.053 A=0.000 C2=0.000
Domain overlap (PFAM):
C1:
PF126982=ABC2_membrane_3=FE(14.1=100)
A:
PF126982=ABC2_membrane_3=FE(13.9=100)
C2:
PF126982=ABC2_membrane_3=FE(19.2=100)
Main Skipping Isoform:
NA
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Zebrafish
(danRer10)
No conservation detected
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
AATGCCAGCAAAGAAGGAGCA
R:
GCTGAATCCCGAAGACCCATC
Band lengths:
256-360
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains