HsaEX6024402 @ hg38
Exon Skipping
Gene
ENSG00000141338 | ABCA8
Description
ATP binding cassette subfamily A member 8 [Source:HGNC Symbol;Acc:HGNC:38]
Coordinates
chr17:68894173-68902879:-
Coord C1 exon
chr17:68902713-68902879
Coord A exon
chr17:68894880-68895013
Coord C2 exon
chr17:68894173-68894310
Length
134 bp
Sequences
Splice sites
3' ss Seq
TATCTTTAACTACACCTTAGGGG
3' ss Score
4.84
5' ss Seq
AAGGTATGC
5' ss Score
9.55
Exon sequences
Seq C1 exon
GCTATTAATTCTAATGGCTGGATTTTGCCCTCTTCTTGTGGAGTATACCATGGTGAAAATATATCAAAACAGTTACACCTGGGAACTTTCTCCTCATTTGTATTTCCTTGCTCCTGGACAACAACCACATGACCCTCTCACTCAACTACTGATCATCAATAAAACAG
Seq A exon
GGGCAAGCATTGATGACTTTATACAGTCTGTGGAGCACCAGAACATAGCTTTAGAAGTGGATGCATTTGGAACTAGAAATGGCACAGATGACCCATCTTATAATGGAGCCATCACAGTGTGTTGTAATGAAAAG
Seq C2 exon
AATTACAGCTTTTCGTTAGCATGCAATGCCAAAAGATTGAATTGCTTCCCAGTTCTTATGGACATTGTTAGTAATGGGCTACTTGGAATGGTTAAACCATCAGTACATATCCGAACTGAAAGAAGTACATTTTTGGAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000141338-'34-39,'34-37,35-39
Average complexity
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=0.003
Domain overlap (PFAM):
C1:
PF126982=ABC2_membrane_3=PU(3.3=17.5)
A:
PF126982=ABC2_membrane_3=FE(14.5=100)
C2:
PF126982=ABC2_membrane_3=FE(14.8=100)
Main Skipping Isoform:
NA
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Chicken
(galGal3)
No conservation detected
Zebrafish
(danRer10)
No conservation detected
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
GGCTGGATTTTGCCCTCTTCT
R:
GGTTTAACCATTCCAAGTAGCCCA
Band lengths:
250-384
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains