HsaEX6024425 @ hg38
Exon Skipping
Gene
ENSG00000154258 | ABCA9
Description
ATP binding cassette subfamily A member 9 [Source:HGNC Symbol;Acc:HGNC:39]
Coordinates
chr17:69018413-69021861:-
Coord C1 exon
chr17:69021742-69021861
Coord A exon
chr17:69020388-69020586
Coord C2 exon
chr17:69018413-69018579
Length
199 bp
Sequences
Splice sites
3' ss Seq
ATATTGATCTTATGTTTTAGATA
3' ss Score
10.06
5' ss Seq
TATGTGAGT
5' ss Score
5.56
Exon sequences
Seq C1 exon
AACTTTACAGGGATCTTGATAGATGTTCTAACCAAGGCATTGAGGATTATGGTGTTTCCATAACAACTTTGAATGAGGTGTTTCTGAAATTAGAAGGAAAATCAACTATTGATGAATCAG
Seq A exon
ATATTGGAATTTGGGGACAATTACAAACTGATGGGGCAAAAGATATAGGAAGCCTTGTTGAGCTGGAACAAGTTTTGTCTTCCTTCCACGAAACAAGGAAAACAATCAGTGGCGTGGCGCTCTGGAGGCAGCAGGTCTGTGCAATAGCAAAAGTTCGCTTCCTAAAGTTAAAGAAAGAAAGAAAAAGCCTGTGGACTAT
Seq C2 exon
ATTATTGCTTTTTGGTATTAGCTTTATCCCTCAACTTTTGGAACATCTATTCTACGAGTCATATCAGAAAAGTTACCCGTGGGAACTGTCTCCAAATACATACTTCCTCTCACCAGGACAACAACCACAGGATCCTCTGACCCATTTACTGGTCATCAATAAGACAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000154258-'31-28,'31-26,32-28=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(2.3=12.3)
Main Skipping Isoform:
NA
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
TGTTCTAACCAAGGCATTGAGGA
R:
ATGGGTCAGAGGATCCTGTGG
Band lengths:
242-441
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains