HsaEX6041867 @ hg38
Exon Skipping
Gene
ENSG00000167972 | ABCA3
Description
ATP binding cassette subfamily A member 3 [Source:HGNC Symbol;Acc:HGNC:33]
Coordinates
chr16:2278943-2281509:-
Coord C1 exon
chr16:2281381-2281509
Coord A exon
chr16:2281027-2281221
Coord C2 exon
chr16:2278943-2279130
Length
195 bp
Sequences
Splice sites
3' ss Seq
TTTCTGTTGGGTGCCTGCAGGTG
3' ss Score
9.75
5' ss Seq
AAGGTGGGT
5' ss Score
8.23
Exon sequences
Seq C1 exon
ACAGAATTATACACCCGGATGCCTGTGCTTCCTGAGGACCAAGATGTAGCGGACGAGAGGACCCGCATCCTGGCCCCCAGTCCGGACTCCCTGCTCCACACACCTCTGATTATCAAGGAGCTCTCCAAG
Seq A exon
GTGTACGAGCAGCGGGTGCCCCTCCTGGCCGTGGACAGGCTCTCCCTCGCGGTGCAGAAAGGGGAGTGCTTCGGCCTGCTGGGCTTCAATGGAGCCGGGAAGACCACGACTTTCAAAATGCTGACCGGGGAGGAGAGCCTCACTTCTGGGGATGCCTTTGTCGGGGGTCACAGAATCAGCTCTGATGTCGGAAAG
Seq C2 exon
GTGCGGCAGCGGATCGGCTACTGCCCGCAGTTTGATGCCTTGCTGGACCACATGACAGGCCGGGAGATGCTGGTCATGTACGCTCGGCTCCGGGGCATCCCTGAGCGCCACATCGGGGCCTGCGTGGAGAACACTCTGCGGGGCCTGCTGCTGGAGCCACATGCCAACAAGCTGGTCAGGACGTACAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000167972-'62-68,'62-65,63-68=AN
Average complexity
A_S
Mappability confidence:
100%=100=100%
Protein Impact
Alternative protein isoforms (Ref)
No structure available
Features
Disorder rate (Iupred):
C1=0.000 A=0.015 C2=0.000
Domain overlap (PFAM):
C1:
NO
A:
PF0000522=ABC_tran=PU(37.2=83.1)
C2:
PF0000522=ABC_tran=FE(42.8=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:
AGATGTAGCGGACGAGAGGAC
R:
TTGTTGGCATGTGGCTCCAG
Band lengths:
258-453
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains