HsaEX0000282 @ hg38
Exon Skipping
Gene
ENSG00000154265 | ABCA5
Description
ATP binding cassette subfamily A member 5 [Source:HGNC Symbol;Acc:HGNC:35]
Coordinates
chr17:69273959-69284072:-
Coord C1 exon
chr17:69283953-69284072
Coord A exon
chr17:69277641-69277842
Coord C2 exon
chr17:69273959-69274128
Length
202 bp
Sequences
Splice sites
3' ss Seq
TGTTTTGTTTTGGCAAATAGATT
3' ss Score
5.23
5' ss Seq
AGTGTAAGT
5' ss Score
8.46
Exon sequences
Seq C1 exon
GTTTGTTTTCTGCCCTAGACAGTCATTCAAATTTGGGTGTCATTTCTTATGGTGTTTCCATGACGACTTTGGAAGACGTATTTTTAAAGCTAGAAGTTGAAGCAGAAATTGACCAAGCAG
Seq A exon
ATTATAGTGTATTTACTCAGCAGCCACTGGAGGAAGAAATGGATTCAAAATCTTTTGATGAAATGGAACAGAGCTTACTTATTCTTTCTGAAACCAAGGCTGCTCTAGTGAGCACCATGAGCCTTTGGAAACAACAGATGTATACAATAGCAAAGTTTCATTTCTTTACCTTGAAACGTGAAAGTAAATCAGTGAGATCAGT
Seq C2 exon
GTTGCTTCTGCTTTTAATTTTTTTCACAGTTCAGATTTTTATGTTTTTGGTTCATCACTCTTTTAAAAATGCTGTGGTTCCCATCAAACTTGTTCCAGACTTATATTTTCTAAAACCTGGAGACAAACCACATAAATACAAAACAAGTCTGCTTCTTCAAAATTCTGCTG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000154265_CASSETTE4
Average complexity
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(3.7=20.6)
C2:
PF126982=ABC2_membrane_3=FE(15.2=100)
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:
TGTTTTCTGCCCTAGACAGTCA
R:
CAGCAGAATTTTGAAGAAGCAGACT
Band lengths:
287-489
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