HsaEX6024416 @ hg38
Exon Skipping
Gene
ENSG00000154258 | ABCA9
Description
ATP binding cassette subfamily A member 9 [Source:HGNC Symbol;Acc:HGNC:39]
Coordinates
chr17:69033726-69043715:-
Coord C1 exon
chr17:69043489-69043715
Coord A exon
chr17:69035660-69035801
Coord C2 exon
chr17:69033726-69033873
Length
142 bp
Sequences
Splice sites
3' ss Seq
CGGCTTTGTTTCTCTGCTAGGCT
3' ss Score
7.81
5' ss Seq
TTGGTGAGT
5' ss Score
9.27
Exon sequences
Seq C1 exon
ATCGCAACAAATCATTCAGTGATGGAACAGCTGATGTCAGTTACTGGTGTACATATGAAGATATTACCTTTTGTTGCCCAAGGAGGAGTTGCAACTGATTTTTTCATTTTCTTTTGCATTATTTCTTTTTCTACATTTATATACTATGTATCAGTCAATGTTACACAAGAAAGACAATACATTACGTCATTGATGACAATGATGGGACTCCGAGAGTCAGCATTCTG
Seq A exon
GCTTTCCTGGGGTTTGATGTATGCTGGCTTCATCCTTATCATGGCCACTTTAATGGCTCTTATTGTAAAATCTGCACAAATTGTCGTCCTGACTGGTTTTGTGATGGTCTTCACCCTCTTTCTCCTCTATGGCCTGTCTTTG
Seq C2 exon
CTTATACATTTGGACTATGATGTGAATTCTAATGCCCACTTGGATTCTTCACAAAATCCATACCTCATAATAGCTACTCTTTTCATGTTGGTTTTTGACACCCTTCTGTATTTGGTATTGACATTATATTTTGACAAAATTTTGCCCG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000154258_MULTIEX5-1/2=C1-C2
Average complexity
C3
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=FE(19.1=100)
A:
PF126982=ABC2_membrane_3=FE(12.0=100)
C2:
PF126982=ABC2_membrane_3=PD(10.7=84.0)
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:
CCCAAGGAGGAGTTGCAACTG
R:
AGGGTGTCAAAAACCAACATGA
Band lengths:
255-397
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains