HsaEX0000257 @ hg38
Exon Skipping
Gene
ENSG00000167972 | ABCA3
Description
ATP binding cassette subfamily A member 3 [Source:HGNC Symbol;Acc:HGNC:33]
Coordinates
chr16:2299403-2304150:-
Coord C1 exon
chr16:2303969-2304150
Coord A exon
chr16:2300005-2300148
Coord C2 exon
chr16:2299403-2299532
Length
144 bp
Sequences
Splice sites
3' ss Seq
GCTGTCTGCTTCCCTCCCAGCCC
3' ss Score
8.18
5' ss Seq
AAGGTGCCG
5' ss Score
5.74
Exon sequences
Seq C1 exon
GCATGGGCATCCAGTGGCGAGACCTCCTGAGTCCCGTCAACGTGGACGACGACTTCTGCTTCGGGCAGGTGCTGGGGATGCTGCTGCTGGACTCTGTGCTCTATGGCCTGGTGACCTGGTACATGGAGGCCGTCTTCCCAGGGCAGTTCGGCGTGCCTCAGCCCTGGTACTTCTTCATCATG
Seq A exon
CCCTCCTATTGGTGTGGGAAGCCAAGGGCGGTTGCAGGGAAGGAGGAAGAAGACAGTGACCCCGAGAAAGCACTCAGAAACGAGTACTTTGAAGCCGAGCCAGAGGACCTGGTGGCGGGGATCAAGATCAAGCACCTGTCCAAG
Seq C2 exon
GTGTTCAGGGTGGGAAATAAGGACAGGGCGGCCGTCAGAGACCTGAACCTCAACCTGTACGAGGGACAGATCACCGTCCTGCTGGGCCACAACGGTGCCGGGAAGACCACCACCCTCTCCATGCTCACAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000167972_CASSETTE1
Average complexity
S
Mappability confidence:
100%=100=100%
Protein Impact
Alternative protein isoforms (Ref)
No structure available
Features
Disorder rate (Iupred):
C1=0.000 A=0.236 C2=0.000
Domain overlap (PFAM):
C1:
PF126982=ABC2_membrane_3=PD(8.9=65.6)
A:
NO
C2:
PF0000522=ABC_tran=PU(22.1=72.7)
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:
GAGACCTCCTGAGTCCCGTC
R:
GACGGTGATCTGTCCCTCGTA
Band lengths:
242-386
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