HsaEX6024427 @ hg38
Exon Skipping
Gene
ENSG00000154258 | ABCA9
Description
ATP binding cassette subfamily A member 9 [Source:HGNC Symbol;Acc:HGNC:39]
Coordinates
chr17:69016253-69018579:-
Coord C1 exon
chr17:69018413-69018579
Coord A exon
chr17:69017656-69017789
Coord C2 exon
chr17:69016253-69016390
Length
134 bp
Sequences
Splice sites
3' ss Seq
TAATCTTTGCCTTCATGTAGGGT
3' ss Score
7.61
5' ss Seq
AAGGTATGC
5' ss Score
9.55
Exon sequences
Seq C1 exon
ATTATTGCTTTTTGGTATTAGCTTTATCCCTCAACTTTTGGAACATCTATTCTACGAGTCATATCAGAAAAGTTACCCGTGGGAACTGTCTCCAAATACATACTTCCTCTCACCAGGACAACAACCACAGGATCCTCTGACCCATTTACTGGTCATCAATAAGACAG
Seq A exon
GGTCAACCATTGATAACTTTTTACATTCACTGAGGCGACAGAACATAGCTATAGAAGTGGATGCCTTTGGAACTAGAAATGGCACAGATGACCCATCTTACAATGGTGCTATCATTGTGTCAGGTGATGAAAAG
Seq C2 exon
GATCACAGATTTTCAATAGCATGTAATACAAAACGGCTGAATTGCTTTCCTGTCCTCCTGGATGTCATTAGCAATGGACTACTTGGAATTTTTAATTCGTCAGAACACATTCAGACTGACAGAAGCACATTTTTTGAA
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000154258-'34-31,'34-29,35-31=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:
PF126982=ABC2_membrane_3=PU(2.3=12.3)
A:
PF126982=ABC2_membrane_3=FE(14.4=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:
CGAGTCATATCAGAAAAGTTACCCGT
R:
TGTGCTTCTGTCAGTCTGAATGT
Band lengths:
242-376
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains