HsaEX6041869 @ hg38
Exon Skipping
Gene
ENSG00000167972 | ABCA3
Description
ATP binding cassette subfamily A member 3 [Source:HGNC Symbol;Acc:HGNC:33]
Coordinates
chr16:2277597-2278458:-
Coord C1 exon
chr16:2278288-2278458
Coord A exon
chr16:2277879-2278069
Coord C2 exon
chr16:2277597-2277670
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-'67-72,'67-71,68-72=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