HsaEX6062299 @ hg38
Exon Skipping
Gene
ENSG00000165029 | ABCA1
Description
ATP binding cassette subfamily A member 1 [Source:HGNC Symbol;Acc:HGNC:29]
Coordinates
chr9:104791936-104793300:-
Coord C1 exon
chr9:104793171-104793300
Coord A exon
chr9:104792786-104792906
Coord C2 exon
chr9:104791936-104791998
Length
121 bp
Sequences
Splice sites
3' ss Seq
TTCTTGTTTTTTCCCCCAAGACC
3' ss Score
6.98
5' ss Seq
AAGGTGAGA
5' ss Score
8.68
Exon sequences
Seq C1 exon
GGGAGAATCGCTTTGTGTCACCATTATCTTGGGACTTGGTGGGACGAAACCTCTTCGCCATGGCCGTGGAAGGGGTGGTGTTCTTCCTCATTACTGTTCTGATCCAGTACAGATTCTTCATCAGGCCCAG
Seq A exon
ACCTGTAAATGCAAAGCTATCTCCTCTGAATGATGAAGATGAAGATGTGAGGCGGGAAAGACAGAGAATTCTTGATGGTGGAGGCCAGAATGACATCTTAGAAATCAAGGAGTTGACGAAG
Seq C2 exon
ATATATAGAAGGAAGCGGAAGCCTGCTGTTGACAGGATTTGCGTGGGCATTCCTCCTGGTGAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000165029-'87-91,'87-90,90-91=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=0.195 C2=0.000
Domain overlap (PFAM):
C1:
PF126982=ABC2_membrane_3=PD(6.3=75.0)
A:
NO
C2:
PF0000522=ABC_tran=PU(7.6=52.4)

Main Skipping Isoform:
NA
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:
GGAGAATCGCTTTGTGTCACCA
R:
CTCACCAGGAGGAATGCCCA
Band lengths:
192-313
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains