HsaEX6041868 @ hg38
Exon Skipping
Gene
ENSG00000167972 | ABCA3
Description
ATP binding cassette subfamily A member 3 [Source:HGNC Symbol;Acc:HGNC:33]
Coordinates
chr16:2277879-2279130:-
Coord C1 exon
chr16:2278943-2279130
Coord A exon
chr16:2278288-2278458
Coord C2 exon
chr16:2277879-2278069
Length
171 bp
Sequences
Splice sites
3' ss Seq
TGGCACCCTCCTGCCTCTAGTGG
3' ss Score
6.99
5' ss Seq
CAGGTAGAG
5' ss Score
7.1
Exon sequences
Seq C1 exon
GTGCGGCAGCGGATCGGCTACTGCCCGCAGTTTGATGCCTTGCTGGACCACATGACAGGCCGGGAGATGCTGGTCATGTACGCTCGGCTCCGGGGCATCCCTGAGCGCCACATCGGGGCCTGCGTGGAGAACACTCTGCGGGGCCTGCTGCTGGAGCCACATGCCAACAAGCTGGTCAGGACGTACAG
Seq A exon
TGGTGGTAACAAGCGGAAGCTGAGCACCGGCATCGCCCTGATCGGAGAGCCTGCTGTCATCTTCCTGGACGAGCCGTCCACTGGCATGGACCCCGTGGCCCGGCGCCTGCTTTGGGACACCGTGGCACGAGCCCGAGAGTCTGGCAAGGCCATCATCATCACCTCCCACAG
Seq C2 exon
CATGGAGGAGTGTGAGGCCCTGTGCACCCGGCTGGCCATCATGGTGCAGGGGCAGTTCAAGTGCCTGGGCAGCCCCCAGCACCTCAAGAGCAAGTTCGGCAGCGGCTACTCCCTGCGGGCCAAGGTGCAGAGTGAAGGGCAACAGGAGGCGCTGGAGGAGTTCAAGGCCTTCGTGGACCTGACCTTTCCAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000167972-'65-71,'65-70,67-71=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=0.000 C2=0.000
Domain overlap (PFAM):
C1:
PF0000522=ABC_tran=FE(42.8=100)
A:
PF0000522=ABC_tran=PD(18.6=46.6)
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:
AGTTTGATGCCTTGCTGGACC
R:
CGAACTTGCTCTTGAGGTGCT
Band lengths:
258-429
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains