HsaEX6024401 @ hg38
Exon Skipping
Gene
ENSG00000141338 | ABCA8
Description
ATP binding cassette subfamily A member 8 [Source:HGNC Symbol;Acc:HGNC:38]
Coordinates
chr17:68894880-68903499:-
Coord C1 exon
chr17:68903301-68903499
Coord A exon
chr17:68902713-68902879
Coord C2 exon
chr17:68894880-68895013
Length
167 bp
Sequences
Splice sites
3' ss Seq
GGCAATTTTCTTTTGTGTAGGCT
3' ss Score
6.05
5' ss Seq
CAGGTAAAA
5' ss Score
8.59
Exon sequences
Seq C1 exon
ACATTGCTATTTTGGGAGAAGTACAAGCGGAAAAAGCTGACGACACTGAAAGGCTTGTTGAGATGGAACAAGTCCTCTCTTCACTTAACAAGATGAGAAAGACAATAGGTGGTGTGGCTCTCTGGCGACAGCAAATCTGCGCAATTGCAAGGGTTCGCTTGTTAAAGTTAAAGCATGAAAGAAAAGCTCTTTTAGCACT
Seq A exon
GCTATTAATTCTAATGGCTGGATTTTGCCCTCTTCTTGTGGAGTATACCATGGTGAAAATATATCAAAACAGTTACACCTGGGAACTTTCTCCTCATTTGTATTTCCTTGCTCCTGGACAACAACCACATGACCCTCTCACTCAACTACTGATCATCAATAAAACAG
Seq C2 exon
GGGCAAGCATTGATGACTTTATACAGTCTGTGGAGCACCAGAACATAGCTTTAGAAGTGGATGCATTTGGAACTAGAAATGGCACAGATGACCCATCTTATAATGGAGCCATCACAGTGTGTTGTAATGAAAAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000141338-'33-37,'33-36,34-37=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:
PF126982=ABC2_membrane_3=PU(3.3=17.5)
C2:
PF126982=ABC2_membrane_3=FE(14.5=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:
TGACGACACTGAAAGGCTTGT
R:
TGGGTCATCTGTGCCATTTCT
Band lengths:
257-424
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains