HsaEX6041856 @ hg38
Exon Skipping
Gene
ENSG00000167972 | ABCA3
Description
ATP binding cassette subfamily A member 3 [Source:HGNC Symbol;Acc:HGNC:33]
Coordinates
chr16:2297329-2298540:-
Coord C1 exon
chr16:2298386-2298540
Coord A exon
chr16:2297766-2297921
Coord C2 exon
chr16:2297329-2297539
Length
156 bp
Sequences
Splice sites
3' ss Seq
TGCGTCCCCTGTCGTTGCAGCTG
3' ss Score
10.37
5' ss Seq
AAGGTGTGG
5' ss Score
5.28
Exon sequences
Seq C1 exon
GTCTCTTTCCCCCCACCAGTGGACGGGCATACATCAGCGGGTATGAAATTTCCCAGGACATGGTTCAGATCCGGAAGAGCCTGGGCCTGTGCCCGCAGCACGACATCCTGTTTGACAACTTGACAGTCGCAGAGCACCTTTATTTCTACGCCCAG
Seq A exon
CTGAAGGGCCTGTCACGTCAGAAGTGCCCTGAAGAAGTCAAGCAGATGCTGCACATCATCGGCCTGGAGGACAAGTGGAACTCACGGAGCCGCTTCCTGAGCGGGGGCATGAGGCGCAAGCTCTCCATCGGCATCGCCCTCATCGCAGGCTCCAAG
Seq C2 exon
GTGCTGATACTGGACGAGCCCACCTCGGGCATGGACGCCATCTCCAGGAGGGCCATCTGGGATCTTCTTCAGCGGCAGAAAAGTGACCGCACCATCGTGCTGACCACCCACTTCATGGACGAGGCTGACCTGCTGGGAGACCGCATCGCCATCATGGCCAAGGGGGAGCTGCAGTGCTGCGGGTCCTCGCTGTTCCTCAAGCAGAAATACG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000167972-'41-38,'41-36,42-38
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=0.000 C2=0.000
Domain overlap (PFAM):
C1:
PF0000522=ABC_tran=FE(35.2=100)
A:
PF0000522=ABC_tran=FE(35.2=100)
C2:
PF0000522=ABC_tran=PD(5.5=11.3)
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:
CAACTTGACAGTCGCAGAGCA
R:
TTCTGCTTGAGGAACAGCGAG
Band lengths:
246-402
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains