HsaEX6024426 @ hg38
Exon Skipping
Gene
ENSG00000154258 | ABCA9
Description
ATP binding cassette subfamily A member 9 [Source:HGNC Symbol;Acc:HGNC:39]
Coordinates
chr17:69017656-69020586:-
Coord C1 exon
chr17:69020388-69020586
Coord A exon
chr17:69018413-69018579
Coord C2 exon
chr17:69017656-69017789
Length
167 bp
Sequences
Splice sites
3' ss Seq
TTACATTTTCCTCTGCATAGATT
3' ss Score
8.26
5' ss Seq
CAGGTGAAC
5' ss Score
5.56
Exon sequences
Seq C1 exon
ATATTGGAATTTGGGGACAATTACAAACTGATGGGGCAAAAGATATAGGAAGCCTTGTTGAGCTGGAACAAGTTTTGTCTTCCTTCCACGAAACAAGGAAAACAATCAGTGGCGTGGCGCTCTGGAGGCAGCAGGTCTGTGCAATAGCAAAAGTTCGCTTCCTAAAGTTAAAGAAAGAAAGAAAAAGCCTGTGGACTAT
Seq A exon
ATTATTGCTTTTTGGTATTAGCTTTATCCCTCAACTTTTGGAACATCTATTCTACGAGTCATATCAGAAAAGTTACCCGTGGGAACTGTCTCCAAATACATACTTCCTCTCACCAGGACAACAACCACAGGATCCTCTGACCCATTTACTGGTCATCAATAAGACAG
Seq C2 exon
GGTCAACCATTGATAACTTTTTACATTCACTGAGGCGACAGAACATAGCTATAGAAGTGGATGCCTTTGGAACTAGAAATGGCACAGATGACCCATCTTACAATGGTGCTATCATTGTGTCAGGTGATGAAAAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000154258-'32-29,'32-28,34-29=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:
NO
A:
PF126982=ABC2_membrane_3=PU(2.3=12.3)
C2:
PF126982=ABC2_membrane_3=FE(14.4=100)
Main Skipping Isoform:
ENST00000340001fB8371
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:
GGAAGCCTTGTTGAGCTGGAA
R:
TGGGTCATCTGTGCCATTTCT
Band lengths:
247-414
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains