HsaEX6024412 @ hg38
Exon Skipping
Gene
ENSG00000154258 | ABCA9
Description
ATP binding cassette subfamily A member 9 [Source:HGNC Symbol;Acc:HGNC:39]
Coordinates
chr17:69049283-69051755:-
Coord C1 exon
chr17:69051540-69051755
Coord A exon
chr17:69051031-69051139
Coord C2 exon
chr17:69049283-69049490
Length
109 bp
Sequences
Splice sites
3' ss Seq
TTTTTTCTGTCTTTTTAAAGGAA
3' ss Score
11.48
5' ss Seq
TTGGTATGC
5' ss Score
5.91
Exon sequences
Seq C1 exon
CTATATTTTTAAGATGTCTTCATGTGGATGGGTGTGTGCCAATCCAGTGCTCCTGAATCCTACATAGTAATCTTTGGACTGTATCCATCAAAATTTGTTTTATTAACACCATGCCACAATAATCTACATTATAAAGAACATCCTTGCACTGGTCCCCTCATGACCCCATGTGAGAATCTCCATGGGCTGCATATCCAGGAGCAGAACTGATTGATG
Seq A exon
GAAACAGGTCAAAATGAGCAAGAGACGCATGAGCGTGGGTCAGCAAACATGGGCTCTTCTCTGCAAGAACTGTCTCAAAAAATGGAGAATGAAAAGACAGACCTTGTTG
Seq C2 exon
GAATGGCTCTTTTCATTTCTTCTGGTACTGTTTCTGTACCTATTTTTCTCCAATTTACATCAAGTTCATGACACTCCTCAAATGTCTTCAATGGATCTGGGACGTGTAGATAGTTTTAATGATACTAATTATGTTATTGCATTTGCACCTGAATCCAAAACTACCCAAGAGATAATGAACAAAGTGGCTTCAGCCCCATTCCTAAAAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000154258-'3-3,'3-2,4-3=AN
Average complexity
A_C3
Mappability confidence:
100%=100=100%
Protein Impact
Alternative protein isoforms (Ref, Alt. ATG (>10 exons))
No structure available
Features
Disorder rate (Iupred):
C1=NA A=0.000 C2=0.000
Domain overlap (PFAM):
C1:
NA
A:
PF126982=ABC2_membrane_3=PU(1.3=15.6)
C2:
PF126982=ABC2_membrane_3=FE(17.6=100)
Main Skipping Isoform:
NA
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Chicken
(galGal4)
No conservation detected
Chicken
(galGal3)
No conservation detected
Zebrafish
(danRer10)
No conservation detected
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
GAACATCCTTGCACTGGTCCC
R:
GGGTAGTTTTGGATTCAGGTGCA
Band lengths:
247-356
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains