HsaEX6024497 @ hg38
Exon Skipping
Gene
ENSG00000154265 | ABCA5
Description
ATP binding cassette subfamily A member 5 [Source:HGNC Symbol;Acc:HGNC:35]
Coordinates
chr17:69283953-69286311:-
Coord C1 exon
chr17:69286221-69286311
Coord A exon
chr17:69285898-69286037
Coord C2 exon
chr17:69283953-69284072
Length
140 bp
Sequences
Splice sites
3' ss Seq
TGATTTTTGGTATTCTCTAGCAT
3' ss Score
7.22
5' ss Seq
CAGGTATTA
5' ss Score
7.26
Exon sequences
Seq C1 exon
ATAGGAAAGCTGTGATATCACAAGGAATGCTGAAATGTGTTGGTTCTTCAATGTTCCTCAAAAGTAAATGGGGGATCGGCTACCGCCTGAG
Seq A exon
CATGTACATAGACAAATATTGTGCCACAGAATCTCTTTCTTCACTGGTTAAACAACATATACCTGGAGCTACTTTATTACAACAGAATGACCAACAACTTGTGTATAGCTTGCCTTTCAAGGACATGGACAAATTTTCAG
Seq C2 exon
GTTTGTTTTCTGCCCTAGACAGTCATTCAAATTTGGGTGTCATTTCTTATGGTGTTTCCATGACGACTTTGGAAGACGTATTTTTAAAGCTAGAAGTTGAAGCAGAAATTGACCAAGCAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000154265-'40-54,'40-52,41-54=AN
Average complexity
A_C1
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:
NO
C2:
NO
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:
TCACAAGGAATGCTGAAATGTGT
R:
CTGCTTGGTCAATTTCTGCTTCA
Band lengths:
194-334
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains