HsaEX0000259 @ hg38
Exon Skipping
Gene
ENSG00000167972 | ABCA3
Description
ATP binding cassette subfamily A member 3 [Source:HGNC Symbol;Acc:HGNC:33]
Coordinates
chr16:2289434-2295740:-
Coord C1 exon
chr16:2295590-2295740
Coord A exon
chr16:2292140-2292238
Coord C2 exon
chr16:2289434-2289620
Length
99 bp
Sequences
Splice sites
3' ss Seq
ATGCTGGGTCTGTTTTTCAGGTT
3' ss Score
9.65
5' ss Seq
TCGGTCAGT
5' ss Score
7.03
Exon sequences
Seq C1 exon
GTGCCGGCTATCACATGACGCTGGTGAAGGAGCCGCACTGCAACCCGGAAGACATCTCCCAGCTGGTCCACCACCACGTGCCCAACGCCACGCTGGAGAGCAGCGCTGGGGCCGAGCTGTCTTTCATCCTTCCCAGAGAGAGCACGCACAG
Seq A exon
GTTTGAAGGTCTCTTTGCTAAACTGGAGAAGAAGCAGAAAGAGCTGGGCATTGCCAGCTTTGGGGCATCCATCACCACCATGGAGGAAGTCTTCCTTCG
Seq C2 exon
GGTCGGGAAGCTGGTGGACAGCAGTATGGACATCCAGGCCATCCAGCTCCCTGCCCTGCAGTACCAGCACGAGAGGCGCGCCAGCGACTGGGCTGTGGACAGCAACCTCTGTGGGGCCATGGACCCCTCCGACGGCATTGGAGCCCTCATCGAGGAGGAGCGCACCGCTGTCAAGCTCAACACTGGG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000167972-'44-43,'44-42,46-43
Average complexity
S
Mappability confidence:
100%=100=100%
Protein Impact
Alternative protein isoforms (Ref)
No structure available
Features
Disorder rate (Iupred):
C1=0.039 A=0.000 C2=0.000
Domain overlap (PFAM):
C1:
NO
A:
NO
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:
CACATGACGCTGGTGAAGGAG
R:
TGTCCATACTGCTGTCCACCA
Band lengths:
172-271
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