HsaEX6024495 @ hg38
Exon Skipping
Gene
ENSG00000154265 | ABCA5
Description
ATP binding cassette subfamily A member 5 [Source:HGNC Symbol;Acc:HGNC:35]
Coordinates
chr17:69286221-69289296:-
Coord C1 exon
chr17:69289177-69289296
Coord A exon
chr17:69287613-69287751
Coord C2 exon
chr17:69286221-69286311
Length
139 bp
Sequences
Splice sites
3' ss Seq
CTTCACCTCTTTTCACACAGATA
3' ss Score
8.65
5' ss Seq
CAGGTGAGA
5' ss Score
9.22
Exon sequences
Seq C1 exon
GTGCAGAAGGTTTTACTAGATTTAGACATGCAGACTATCAAAGATAACCAAGCTAAAAAATTAAGTGGTGGTCAAAAAAGAAAGCTGTCATTAGGAATTGCTGTTCTTGGGAACCCAAAG
Seq A exon
ATACTGCTGCTAGATGAACCAACAGCTGGAATGGACCCCTGTTCTCGACATATTGTATGGAATCTTTTAAAATACAGAAAAGCCAATCGGGTGACAGTGTTCAGTACTCATTTCATGGATGAAGCTGACATTCTTGCAG
Seq C2 exon
ATAGGAAAGCTGTGATATCACAAGGAATGCTGAAATGTGTTGGTTCTTCAATGTTCCTCAAAAGTAAATGGGGGATCGGCTACCGCCTGAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000154265-'37-49,'37-48,39-49=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:
PF0000522=ABC_tran=FE(26.5=100)
A:
PF0000522=ABC_tran=PD(5.4=17.0)
C2:
NO
Main Skipping Isoform:
ENST00000392676fB24
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
GCAGAAGGTTTTACTAGATTTAGACA
R:
GGTAGCCGATCCCCCATTTAC
Band lengths:
202-341
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains