HsaEX6041855 @ hg38
Exon Skipping
Gene
ENSG00000167972 | ABCA3
Description
ATP binding cassette subfamily A member 3 [Source:HGNC Symbol;Acc:HGNC:33]
Coordinates
chr16:2297766-2299532:-
Coord C1 exon
chr16:2299403-2299532
Coord A exon
chr16:2298386-2298540
Coord C2 exon
chr16:2297766-2297921
Length
155 bp
Sequences
Splice sites
3' ss Seq
GGTCTCCTGCTGGGCCCCAGGTC
3' ss Score
5.99
5' ss Seq
CAGGTGAGT
5' ss Score
10.67
Exon sequences
Seq C1 exon
GTGTTCAGGGTGGGAAATAAGGACAGGGCGGCCGTCAGAGACCTGAACCTCAACCTGTACGAGGGACAGATCACCGTCCTGCTGGGCCACAACGGTGCCGGGAAGACCACCACCCTCTCCATGCTCACAG
Seq A exon
GTCTCTTTCCCCCCACCAGTGGACGGGCATACATCAGCGGGTATGAAATTTCCCAGGACATGGTTCAGATCCGGAAGAGCCTGGGCCTGTGCCCGCAGCACGACATCCTGTTTGACAACTTGACAGTCGCAGAGCACCTTTATTTCTACGCCCAG
Seq C2 exon
CTGAAGGGCCTGTCACGTCAGAAGTGCCCTGAAGAAGTCAAGCAGATGCTGCACATCATCGGCCTGGAGGACAAGTGGAACTCACGGAGCCGCTTCCTGAGCGGGGGCATGAGGCGCAAGCTCTCCATCGGCATCGCCCTCATCGCAGGCTCCAAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000167972-'40-36,'40-31,41-36
Average complexity
C1
Mappability confidence:
100%=100=100%
Protein Impact
ORF disruption upon sequence exclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.000 A=0.000 C2=0.000
Domain overlap (PFAM):
C1:
PF0000522=ABC_tran=PU(22.1=72.7)
A:
PF0000522=ABC_tran=FE(35.2=100)
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:
GTGGGAAATAAGGACAGGGCG
R:
CGATGCCGATGGAGAGCTTG
Band lengths:
257-412
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains