HsaEX6062299 @ hg19
Exon Skipping
Gene
ENSG00000165029 | ABCA1
Description
ATP-binding cassette, sub-family A (ABC1), member 1 [Source:HGNC Symbol;Acc:29]
Coordinates
chr9:107554217-107555581:-
Coord C1 exon
chr9:107555452-107555581
Coord A exon
chr9:107555067-107555187
Coord C2 exon
chr9:107554217-107554279
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-'54-53,'54-52,55-53=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:
PF0000522=ABC_tran=PU(10.3=36.6)
C2:
PF0000522=ABC_tran=PU(7.6=52.4)
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:
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
Other AS DBs:
FasterDB (Includes CLIP-seq data)
AS-ALPS (AS-induced ALteration of Protein Structure, links to PINs)
APPRIS (Selection of principal isoform)
DEU primates (Only for human)