HsaEX6041870 @ hg38
Exon Skipping
Gene
ENSG00000167972 | ABCA3
Description
ATP binding cassette subfamily A member 3 [Source:HGNC Symbol;Acc:HGNC:33]
Coordinates
chr16:2275881-2278069:-
Coord C1 exon
chr16:2277879-2278069
Coord A exon
chr16:2277597-2277670
Coord C2 exon
chr16:2275881-2276805
Length
74 bp
Sequences
Splice sites
3' ss Seq
ACCGTCTCTCCTTTGTGCAGGCA
3' ss Score
10.14
5' ss Seq
AAGGTGAGG
5' ss Score
9.16
Exon sequences
Seq C1 exon
CATGGAGGAGTGTGAGGCCCTGTGCACCCGGCTGGCCATCATGGTGCAGGGGCAGTTCAAGTGCCTGGGCAGCCCCCAGCACCTCAAGAGCAAGTTCGGCAGCGGCTACTCCCTGCGGGCCAAGGTGCAGAGTGAAGGGCAACAGGAGGCGCTGGAGGAGTTCAAGGCCTTCGTGGACCTGACCTTTCCAG
Seq A exon
GCAGCGTCCTGGAAGATGAGCACCAAGGCATGGTCCATTACCACCTGCCGGGCCGTGACCTCAGCTGGGCGAAG
Seq C2 exon
GTTTTCGGTATTCTGGAGAAAGCCAAGGAAAAGTACGGCGTGGACGACTACTCCGTGAGCCAGATCTCGCTGGAACAGGTCTTCCTGAGCTTCGCCCACCTGCAGCCGCCCACCGCAGAGGAGGGGCGATGAGGGGTGGCGGCTGTCTCGCCATCAGGCAGGGACAGGACGGGCAAGCAGGGCCCATCTTACATCCTCTCTCTCCAAGTTTATCTCATCCTTTATTTTTAATCACTTTTTTCTATGATGGATATGAAAAATTCAAGGCAGTATGCACAGAATGGACGAGTGCAGCCCAGCCCTCATGCCCAGGATCAGCATGCGCATCTCCATGTCTGCATACTCTGGAGTTCACTTTCCCAGAGCTGGGGCAGGCCGGGCAGTCTGCGGGCAAGCTCCGGGGTCTCTGGGTGGAGAGCTGACCCAGGAAGGGCTGCAGCTGAGCTGGGGGTTGAATTTCTCCAGGCACTCCCTGGAGAGAGGACCCAGTGACTTGTCCA
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000167972-'68-75,'68-72,69-75=AN
Average complexity
A_S
Mappability confidence:
100%=100=100%
Protein Impact
Alternative protein isoforms (No Ref, Alt. Stop)
No structure available
Features
Disorder rate (Iupred):
C1=0.000 A=0.000 C2=0.093
Domain overlap (PFAM):
C1:
NO
A:
NO
C2:
NO
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:
AGCACCTCAAGAGCAAGTTCG
R:
CGAGATCTGGCTCACGGAGTA
Band lengths:
183-257
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains