HsaEX0000333 @ hg38
Exon Skipping
Gene
ENSG00000154258 | ABCA9
Description
ATP binding cassette subfamily A member 9 [Source:HGNC Symbol;Acc:HGNC:39]
Coordinates
chr17:69028535-69032276:-
Coord C1 exon
chr17:69032108-69032276
Coord A exon
chr17:69029169-69029227
Coord C2 exon
chr17:69028535-69028645
Length
59 bp
Sequences
Splice sites
3' ss Seq
CATTTCCCTCTTTTTTTCAGAAT
3' ss Score
10.19
5' ss Seq
AAGGTAATA
5' ss Score
8.49
Exon sequences
Seq C1 exon
CTGAATATGGACATCGATGTTCTCCCTTGTTTTTCCTGAAATCCTGTTTTTGGTTTCAACACGGAAGGGCTAATCATGTGGTCCTTGAGAATGAAACAGATTCTGATCCTACACCTAATGACTGTTTTGAACCAGTGTCTCCAGAATTCTGTGGGAAAGAAGCCATCAG
Seq A exon
AATCAAAAATCTTAAAAAAGAATATGCAGGGAAGTGTGAGAGAGTAGAAGCTTTGAAAG
Seq C2 exon
GTGTGGTGTTTGACATATATGAAGGCCAGATCACTGCCCTCCTTGGTCACAGTGGAGCTGGAAAAACTACCCTGTTAAACATACTTAGTGGGTTGTCAGTTCCAACATCAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000154258_MULTIEX3-1/2=C1-2
Average complexity
S
Mappability confidence:
100%=100=100%
Protein Impact
ORF disruption upon sequence exclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.088 A=0.000 C2=0.000
Domain overlap (PFAM):
C1:
NO
A:
PF0000522=ABC_tran=PU(1.4=9.5)
C2:
PF0000522=ABC_tran=FE(25.2=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:
AGTGTCTCCAGAATTCTGTGGGA
R:
TGTTGGAACTGACAACCCACT
Band lengths:
143-202
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains
- Pre-implantation embryo development