HsaEX6041854 @ hg38
Exon Skipping
Gene
ENSG00000167972 | ABCA3
Description
ATP binding cassette subfamily A member 3 [Source:HGNC Symbol;Acc:HGNC:33]
Coordinates
chr16:2298386-2300148:-
Coord C1 exon
chr16:2300005-2300148
Coord A exon
chr16:2299403-2299532
Coord C2 exon
chr16:2298386-2298540
Length
130 bp
Sequences
Splice sites
3' ss Seq
AGCCTCTGCCTTTCCTGCAGGTG
3' ss Score
10.63
5' ss Seq
CAGGTGAGG
5' ss Score
10.07
Exon sequences
Seq C1 exon
CCCTCCTATTGGTGTGGGAAGCCAAGGGCGGTTGCAGGGAAGGAGGAAGAAGACAGTGACCCCGAGAAAGCACTCAGAAACGAGTACTTTGAAGCCGAGCCAGAGGACCTGGTGGCGGGGATCAAGATCAAGCACCTGTCCAAG
Seq A exon
GTGTTCAGGGTGGGAAATAAGGACAGGGCGGCCGTCAGAGACCTGAACCTCAACCTGTACGAGGGACAGATCACCGTCCTGCTGGGCCACAACGGTGCCGGGAAGACCACCACCCTCTCCATGCTCACAG
Seq C2 exon
GTCTCTTTCCCCCCACCAGTGGACGGGCATACATCAGCGGGTATGAAATTTCCCAGGACATGGTTCAGATCCGGAAGAGCCTGGGCCTGTGCCCGCAGCACGACATCCTGTTTGACAACTTGACAGTCGCAGAGCACCTTTATTTCTACGCCCAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000167972-'30-31,'30-29,40-31=AN
Average complexity
A_C2
Mappability confidence:
100%=100=100%
Protein Impact
ORF disruption upon sequence exclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.236 A=0.000 C2=0.000
Domain overlap (PFAM):
C1:
NO
A:
PF0000522=ABC_tran=PU(22.1=72.7)
C2:
PF0000522=ABC_tran=FE(35.2=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:
GCAGTCTTGCTCTGTTGCTCA
R:
TCCGGATCTGAACCATGTCCT
Band lengths:
257-387
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains