HsaEX6024507 @ hg38
Exon Skipping
Gene
ENSG00000154265 | ABCA5
Description
ATP binding cassette subfamily A member 5 [Source:HGNC Symbol;Acc:HGNC:35]
Coordinates
chr17:69253794-69255634:-
Coord C1 exon
chr17:69255543-69255634
Coord A exon
chr17:69254315-69254490
Coord C2 exon
chr17:69253794-69253869
Length
176 bp
Sequences
Splice sites
3' ss Seq
ATTGGTTTGTGTTTCTATAGGTA
3' ss Score
9.53
5' ss Seq
TCGGTAAAA
5' ss Score
5.48
Exon sequences
Seq C1 exon
GAGAGATCTTAGGACTATTGGGTCCAAATGGTGCTGGCAAAAGCACAATTATTAATATTCTGGTTGGTGATATTGAACCAACTTCAGGCCAG
Seq A exon
GTATTTTTAGGAGATTATTCTTCAGAGACAAGTGAAGATGATGATTCACTGAAGTGTATGGGTTACTGTCCTCAGATAAACCCTTTGTGGCCAGATACTACATTGCAGGAACATTTTGAAATTTATGGAGCTGTCAAAGGAATGAGTGCAAGTGACATGAAAGAAGTCATAAGTCG
Seq C2 exon
AATAACACATGCACTTGATTTAAAAGAACATCTTCAGAAGACTGTAAAGAAACTACCTGCAGGAATCAAACGAAAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000154265-'64-79,'64-77,65-79=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=0.034 C2=0.000
Domain overlap (PFAM):
C1:
PF0000522=ABC_tran=FE(20.5=100)
A:
PF0000522=ABC_tran=FE(39.7=100)
C2:
PF0000522=ABC_tran=FE(17.1=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:
GAGAGATCTTAGGACTATTGGGTC
R:
TCGTTTGATTCCTGCAGGTAGT
Band lengths:
165-341
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains