HsaEX0000262 @ hg38
Exon Skipping
Gene
ENSG00000167972 | ABCA3
Description
ATP binding cassette subfamily A member 3 [Source:HGNC Symbol;Acc:HGNC:33]
Coordinates
chr16:2308450-2317764:-
Coord C1 exon
chr16:2317648-2317764
Coord A exon
chr16:2317283-2317403
Coord C2 exon
chr16:2308450-2308623
Length
121 bp
Sequences
Splice sites
3' ss Seq
CTCATGCCTGTGCCCTGCAGGTG
3' ss Score
9.45
5' ss Seq
AAGGTGAGC
5' ss Score
9.6
Exon sequences
Seq C1 exon
GAGTACATGCGCATGATGGGGCTCAGCAGCTGGCTGCACTGGAGTGCCTGGTTCCTCTTGTTCTTCCTCTTCCTCCTCATCGCCGCCTCCTTCATGACCCTGCTCTTCTGTGTCAAG
Seq A exon
GTGAAGCCAAATGTAGCCGTGCTGTCCCGCAGCGACCCCTCCCTGGTGCTCGCCTTCCTGCTGTGCTTCGCCATCTCTACCATCTCCTTCAGCTTCATGGTCAGCACCTTCTTCAGCAAAG
Seq C2 exon
CCAACATGGCAGCAGCCTTCGGAGGCTTCCTCTACTTCTTCACCTACATCCCCTACTTCTTCGTGGCCCCTCGGTACAACTGGATGACTCTGAGCCAGAAGCTCTGCTCCTGCCTCCTGTCTAATGTCGCCATGGCAATGGGAGCCCAGCTCATTGGGAAATTTGAGGCGAAAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000167972_MULTIEX1-2/3=1-3
Average complexity
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:
PF126982=ABC2_membrane_3=FE(10.7=100)
A:
PF126982=ABC2_membrane_3=FE(11.2=100)
C2:
PF126982=ABC2_membrane_3=FE(12.9=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:
GAGTACATGCGCATGATGGGG
R:
GCGACATTAGACAGGAGGCAG
Band lengths:
247-368
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains
- Pre-implantation embryo development