HsaEX0000260 @ hg38
Exon Skipping
Gene
ENSG00000167972 | ABCA3
Description
ATP binding cassette subfamily A member 3 [Source:HGNC Symbol;Acc:HGNC:33]
Coordinates
chr16:2323523-2326274:-
Coord C1 exon
chr16:2326010-2326274
Coord A exon
chr16:2324489-2324531
Coord C2 exon
chr16:2323523-2323688
Length
43 bp
Sequences
Splice sites
3' ss Seq
CCCGTGCTCTCTCTTTGCAGTGC
3' ss Score
12.59
5' ss Seq
TAGGTACGA
5' ss Score
7.12
Exon sequences
Seq C1 exon
AAGCGGAAGGTCCTGGTGACGGTCCTGGAACTCTTCCTGCCATTGCTGTTTTCTGGGATCCTCATCTGGCTCCGCTTGAAGATTCAGTCGGAAAATGTGCCCAACGCCACCATCTACCCGGGCCAGTCCATCCAGGAGCTGCCTCTGTTCTTCACCTTCCCTCCGCCAGGAGACACCTGGGAGCTTGCCTACATCCCTTCTCACAGTGACGCTGCCAAGACCGTCACTGAGACAGTGCGCAGGGCACTTGTGATCAACATGCGAG
Seq A exon
TGCGCGGCTTTCCCTCCGAGAAGGACTTTGAGGACTACATTAG
Seq C2 exon
GTGAAATATCACCTACGGTTCAGTTACACACGGAGAAATTACATGTGGACCCAAACAGGCTCCTTTTTCCTGAAAGAGACAGAAGGCTGGCACACTACTTCCCTTTTCCCGCTTTTCCCAAACCCAGGACCAAGGGAACCTACATCCCCTGATGGCGGAGAACCTG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000167972-'16-10,'16-9,17-10
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=0.243
Domain overlap (PFAM):
C1:
PF126982=ABC2_membrane_3=PU(19.2=96.6)
A:
PF126982=ABC2_membrane_3=FE(11.8=100)
C2:
PF126982=ABC2_membrane_3=FE(12.2=100)
Main Skipping Isoform:
NA
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Rat
(rn6)
No conservation detected
Chicken
(galGal3)
No conservation detected
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
GGCACTTGTGATCAACATGCG
R:
GGGAAAAGCGGGAAAAGGGAA
Band lengths:
142-185
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