HsaEX0000258 @ hg38
Exon Skipping
Gene
ENSG00000167972 | ABCA3
Description
ATP binding cassette subfamily A member 3 [Source:HGNC Symbol;Acc:HGNC:33]
Coordinates
chr16:2278288-2281221:-
Coord C1 exon
chr16:2281027-2281221
Coord A exon
chr16:2278943-2279130
Coord C2 exon
chr16:2278288-2278458
Length
188 bp
Sequences
Splice sites
3' ss Seq
CGGCTATGCTCCGACCCCAGGTG
3' ss Score
6.84
5' ss Seq
CAGGTGCAC
5' ss Score
4.29
Exon sequences
Seq C1 exon
GTGTACGAGCAGCGGGTGCCCCTCCTGGCCGTGGACAGGCTCTCCCTCGCGGTGCAGAAAGGGGAGTGCTTCGGCCTGCTGGGCTTCAATGGAGCCGGGAAGACCACGACTTTCAAAATGCTGACCGGGGAGGAGAGCCTCACTTCTGGGGATGCCTTTGTCGGGGGTCACAGAATCAGCTCTGATGTCGGAAAG
Seq A exon
GTGCGGCAGCGGATCGGCTACTGCCCGCAGTTTGATGCCTTGCTGGACCACATGACAGGCCGGGAGATGCTGGTCATGTACGCTCGGCTCCGGGGCATCCCTGAGCGCCACATCGGGGCCTGCGTGGAGAACACTCTGCGGGGCCTGCTGCTGGAGCCACATGCCAACAAGCTGGTCAGGACGTACAG
Seq C2 exon
TGGTGGTAACAAGCGGAAGCTGAGCACCGGCATCGCCCTGATCGGAGAGCCTGCTGTCATCTTCCTGGACGAGCCGTCCACTGGCATGGACCCCGTGGCCCGGCGCCTGCTTTGGGACACCGTGGCACGAGCCCGAGAGTCTGGCAAGGCCATCATCATCACCTCCCACAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000167972-'63-70,'63-68,65-70
Average complexity
S
Mappability confidence:
100%=100=100%
Protein Impact
ORF disruption upon sequence exclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.015 A=0.000 C2=0.000
Domain overlap (PFAM):
C1:
PF0000522=ABC_tran=PU(37.2=83.1)
A:
PF0000522=ABC_tran=FE(42.8=100)
C2:
PF0000522=ABC_tran=PD(18.6=46.6)
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:
TTCAAAATGCTGACCGGGGAG
R:
GTGGGAGGTGATGATGATGGC
Band lengths:
253-441
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