HsaEX6024427 @ hg19
Exon Skipping
Gene
ENSG00000154258 | ABCA9
Description
ATP-binding cassette, sub-family A (ABC1), member 9 [Source:HGNC Symbol;Acc:39]
Coordinates
chr17:67012394-67014720:-
Coord C1 exon
chr17:67014554-67014720
Coord A exon
chr17:67013797-67013930
Coord C2 exon
chr17:67012394-67012531
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-'22-24,'22-22,23-24=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
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
Other AS DBs:
FasterDB (Includes CLIP-seq data)
AS-ALPS (AS-induced ALteration of Protein Structure, links to PINs)
APPRIS (Selection of principal isoform)
DEU primates (Only for human)