HsaEX6062286 @ hg38
Exon Skipping
Gene
ENSG00000165029 | ABCA1
Description
ATP binding cassette subfamily A member 1 [Source:HGNC Symbol;Acc:HGNC:29]
Coordinates
chr9:104814118-104816345:-
Coord C1 exon
chr9:104816143-104816345
Coord A exon
chr9:104814427-104814475
Coord C2 exon
chr9:104814118-104814231
Length
49 bp
Sequences
Splice sites
3' ss Seq
TCATCTCTCTCATTTTCCAGATA
3' ss Score
11.6
5' ss Seq
CAGGTAACT
5' ss Score
8.63
Exon sequences
Seq C1 exon
ATGTCTCTGCTATCTCCAACCTCATCAGGAAGCATGTGTCTGAAGCCCGGCTGGTGGAAGACATAGGGCATGAGCTGACCTATGTGCTGCCATATGAAGCTGCTAAGGAGGGAGCCTTTGTGGAACTCTTTCATGAGATTGATGACCGGCTCTCAGACCTGGGCATTTCTAGTTATGGCATCTCAGAGACGACCCTGGAAGAA
Seq A exon
ATATTCCTCAAGGTGGCCGAAGAGAGTGGGGTGGATGCTGAGACCTCAG
Seq C2 exon
ATGGTACCTTGCCAGCAAGACGAAACAGGCGGGCCTTCGGGGACAAGCAGAGCTGTCTTCGCCCGTTCACTGAAGATGATGCTGCTGATCCAAATGATTCTGACATAGACCCAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000165029-'68-63,'68-61,70-63=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=0.012 A=0.235 C2=0.513
Domain overlap (PFAM):
C1:
NO
A:
NO
C2:
NO
Main Skipping Isoform:
ENST00000374736fB8327
Other Inclusion Isoforms:
NA
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
GCTCTCAGACCTGGGCATTTC
R:
CATCTTCAGTGAACGGGCGAA
Band lengths:
133-182
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains