HsaEX6024419 @ hg38
Exon Skipping
Gene
ENSG00000154258 | ABCA9
Description
ATP binding cassette subfamily A member 9 [Source:HGNC Symbol;Acc:HGNC:39]
Coordinates
chr17:69029169-69033873:-
Coord C1 exon
chr17:69033726-69033873
Coord A exon
chr17:69032108-69032276
Coord C2 exon
chr17:69029169-69029227
Length
169 bp
Sequences
Splice sites
3' ss Seq
ATTGCCTCCTGCTCACATAGCTG
3' ss Score
6.23
5' ss Seq
CAGGTAACC
5' ss Score
8.66
Exon sequences
Seq C1 exon
CTTATACATTTGGACTATGATGTGAATTCTAATGCCCACTTGGATTCTTCACAAAATCCATACCTCATAATAGCTACTCTTTTCATGTTGGTTTTTGACACCCTTCTGTATTTGGTATTGACATTATATTTTGACAAAATTTTGCCCG
Seq A exon
CTGAATATGGACATCGATGTTCTCCCTTGTTTTTCCTGAAATCCTGTTTTTGGTTTCAACACGGAAGGGCTAATCATGTGGTCCTTGAGAATGAAACAGATTCTGATCCTACACCTAATGACTGTTTTGAACCAGTGTCTCCAGAATTCTGTGGGAAAGAAGCCATCAG
Seq C2 exon
AATCAAAAATCTTAAAAAAGAATATGCAGGGAAGTGTGAGAGAGTAGAAGCTTTGAAAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000154258-'17-15,'17-14,19-15=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=0.088 C2=0.000
Domain overlap (PFAM):
C1:
PF126982=ABC2_membrane_3=PD(10.7=84.0)
A:
NO
C2:
PF0000522=ABC_tran=PU(1.4=9.5)
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:
GGACTATGATGTGAATTCTAATGCCC
R:
TTCAAAGCTTCTACTCTCTCACACT
Band lengths:
194-363
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains