HsaEX6041869 @ hg19
Exon Skipping
Gene
ENSG00000167972 | ABCA3
Description
ATP-binding cassette, sub-family A (ABC1), member 3 [Source:HGNC Symbol;Acc:33]
Coordinates
chr16:2327598-2328459:-
Coord C1 exon
chr16:2328289-2328459
Coord A exon
chr16:2327880-2328070
Coord C2 exon
chr16:2327598-2327671
Length
191 bp
Sequences
Splice sites
3' ss Seq
AGGTCCCGCCCTCTCCACAGCAT
3' ss Score
7.67
5' ss Seq
CAGGTGTGT
5' ss Score
6.99
Exon sequences
Seq C1 exon
TGGTGGTAACAAGCGGAAGCTGAGCACCGGCATCGCCCTGATCGGAGAGCCTGCTGTCATCTTCCTGGACGAGCCGTCCACTGGCATGGACCCCGTGGCCCGGCGCCTGCTTTGGGACACCGTGGCACGAGCCCGAGAGTCTGGCAAGGCCATCATCATCACCTCCCACAG
Seq A exon
CATGGAGGAGTGTGAGGCCCTGTGCACCCGGCTGGCCATCATGGTGCAGGGGCAGTTCAAGTGCCTGGGCAGCCCCCAGCACCTCAAGAGCAAGTTCGGCAGCGGCTACTCCCTGCGGGCCAAGGTGCAGAGTGAAGGGCAACAGGAGGCGCTGGAGGAGTTCAAGGCCTTCGTGGACCTGACCTTTCCAG
Seq C2 exon
GCAGCGTCCTGGAAGATGAGCACCAAGGCATGGTCCATTACCACCTGCCGGGCCGTGACCTCAGCTGGGCGAAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000167972-'39-40,'39-39,40-40=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=PD(18.6=46.6)
A:
NO
C2:
NO
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:
ATCGCCCTGATCGGAGAGC
R:
CTTCGCCCAGCTGAGGTCA
Band lengths:
214-405
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)