HsaEX6024400 @ hg38
Exon Skipping
Gene
ENSG00000141338 | ABCA8
Description
ATP binding cassette subfamily A member 8 [Source:HGNC Symbol;Acc:HGNC:38]
Coordinates
chr17:68902713-68906163:-
Coord C1 exon
chr17:68906044-68906163
Coord A exon
chr17:68903301-68903499
Coord C2 exon
chr17:68902713-68902879
Length
199 bp
Sequences
Splice sites
3' ss Seq
GCTTATTTTATGTTTTGCAGACA
3' ss Score
8.43
5' ss Seq
ACTGTAAGT
5' ss Score
8.59
Exon sequences
Seq C1 exon
AACTTTACAAGGATCTTGATAGCTATCCTGACCTAGGAATTGAGAATTATGGTGTTTCCATGACAACTTTGAATGAAGTATTCCTGAAGCTAGAAGGAAAATCTACAATTAATGAATCGG
Seq A exon
ACATTGCTATTTTGGGAGAAGTACAAGCGGAAAAAGCTGACGACACTGAAAGGCTTGTTGAGATGGAACAAGTCCTCTCTTCACTTAACAAGATGAGAAAGACAATAGGTGGTGTGGCTCTCTGGCGACAGCAAATCTGCGCAATTGCAAGGGTTCGCTTGTTAAAGTTAAAGCATGAAAGAAAAGCTCTTTTAGCACT
Seq C2 exon
GCTATTAATTCTAATGGCTGGATTTTGCCCTCTTCTTGTGGAGTATACCATGGTGAAAATATATCAAAACAGTTACACCTGGGAACTTTCTCCTCATTTGTATTTCCTTGCTCCTGGACAACAACCACATGACCCTCTCACTCAACTACTGATCATCAATAAAACAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000141338-'31-36,'31-34,33-36=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:
NO
A:
NO
C2:
PF126982=ABC2_membrane_3=PU(3.3=17.5)
Main Skipping Isoform:
ENST00000586539fB8368
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Chicken
(galGal3)
No conservation detected
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
AGGATCTTGATAGCTATCCTGACCT
R:
GGGTCATGTGGTTGTTGTCCA
Band lengths:
246-445
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains