HsaEX6041854 @ hg19
Exon Skipping
Gene
ENSG00000167972 | ABCA3
Description
ATP-binding cassette, sub-family A (ABC1), member 3 [Source:HGNC Symbol;Acc:33]
Coordinates
chr16:2348387-2350149:-
Coord C1 exon
chr16:2350006-2350149
Coord A exon
chr16:2349404-2349533
Coord C2 exon
chr16:2348387-2348541
Length
130 bp
Sequences
Splice sites
3' ss Seq
AGCCTCTGCCTTTCCTGCAGGTG
3' ss Score
10.63
5' ss Seq
CAGGTGAGG
5' ss Score
10.07
Exon sequences
Seq C1 exon
CCCTCCTATTGGTGTGGGAAGCCAAGGGCGGTTGCAGGGAAGGAGGAAGAAGACAGTGACCCCGAGAAAGCACTCAGAAACGAGTACTTTGAAGCCGAGCCAGAGGACCTGGTGGCGGGGATCAAGATCAAGCACCTGTCCAAG
Seq A exon
GTGTTCAGGGTGGGAAATAAGGACAGGGCGGCCGTCAGAGACCTGAACCTCAACCTGTACGAGGGACAGATCACCGTCCTGCTGGGCCACAACGGTGCCGGGAAGACCACCACCCTCTCCATGCTCACAG
Seq C2 exon
GTCTCTTTCCCCCCACCAGTGGACGGGCATACATCAGCGGGTATGAAATTTCCCAGGACATGGTTCAGATCCGGAAGAGCCTGGGCCTGTGCCCGCAGCACGACATCCTGTTTGACAACTTGACAGTCGCAGAGCACCTTTATTTCTACGCCCAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000167972-'22-23,'22-22,23-23=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=0.229 A=0.000 C2=0.000
Domain overlap (PFAM):
C1:
NO
A:
PF0000522=ABC_tran=PU(22.1=72.7)
C2:
PF0000522=ABC_tran=FE(35.2=100)
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:
TGCAGGGAAGGAGGAAGAAGA
R:
TGCTCTGCGACTGTCAAGTTG
Band lengths:
248-378
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)