HsaEX6041860 @ hg38
Exon Skipping
Gene
ENSG00000167972 | ABCA3
Description
ATP binding cassette subfamily A member 3 [Source:HGNC Symbol;Acc:HGNC:33]
Coordinates
chr16:2286694-2289620:-
Coord C1 exon
chr16:2289434-2289620
Coord A exon
chr16:2288026-2288329
Coord C2 exon
chr16:2286694-2286967
Length
304 bp
Sequences
Splice sites
3' ss Seq
CTGCGTCCCCTCTGCCGCAGCTC
3' ss Score
8.47
5' ss Seq
TCGGTAAGG
5' ss Score
10.48
Exon sequences
Seq C1 exon
GGTCGGGAAGCTGGTGGACAGCAGTATGGACATCCAGGCCATCCAGCTCCCTGCCCTGCAGTACCAGCACGAGAGGCGCGCCAGCGACTGGGCTGTGGACAGCAACCTCTGTGGGGCCATGGACCCCTCCGACGGCATTGGAGCCCTCATCGAGGAGGAGCGCACCGCTGTCAAGCTCAACACTGGG
Seq A exon
CTCGCCCTGCACTGCCAGCAATTCTGGGCCATGTTCCTGAAGAAGGCCGCATACAGCTGGCGCGAGTGGAAAATGGTGGCGGCACAGGTCCTGGTGCCTCTGACCTGCGTCACCCTGGCCCTCCTGGCCATCAACTACTCCTCGGAGCTCTTCGACGACCCCATGCTGAGGCTGACCTTGGGCGAGTACGGCAGAACCGTCGTGCCCTTCTCAGTTCCCGGGACCTCCCAGCTGGGTCAGCAGCTGTCAGAGCATCTGAAAGACGCACTGCAGGCTGAGGGACAGGAGCCCCGCGAGGTGCTCG
Seq C2 exon
GTGACCTGGAGGAGTTCTTGATCTTCAGGGCTTCTGTGGAGGGGGGCGGCTTTAATGAGCGGTGCCTTGTGGCAGCGTCCTTCAGAGATGTGGGAGAGCGCACGGTCGTCAACGCCTTGTTCAACAACCAGGCGTACCACTCTCCAGCCACTGCCCTGGCCGTCGTGGACAACCTTCTGTTCAAGCTGCTGTGCGGGCCTCACGCCTCCATTGTGGTCTCCAACTTCCCCCAGCCCCGGAGCGCCCTGCAGGCTGCCAAGGACCAGTTTAACGA
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000167972-'47-47,'47-46,51-47=AN
Average complexity
A_S
Mappability confidence:
100%=100=100%
Protein Impact
ORF disruption upon sequence exclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.000 A=0.010 C2=0.011
Domain overlap (PFAM):
C1:
NO
A:
PF126982=ABC2_membrane_3=PU(19.7=77.5)
C2:
PF126982=ABC2_membrane_3=FE(22.6=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:
TGGTGGACAGCAGTATGGACA
R:
AACAGAAGGTTGTCCACGACG
Band lengths:
357-661
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains