HsaEX6064170 @ hg38
Exon Skipping
Gene
ENSG00000107331 | ABCA2
Description
ATP binding cassette subfamily A member 2 [Source:HGNC Symbol;Acc:HGNC:32]
Coordinates
chr9:137011407-137012018:-
Coord C1 exon
chr9:137011844-137012018
Coord A exon
chr9:137011634-137011749
Coord C2 exon
chr9:137011407-137011554
Length
116 bp
Sequences
Splice sites
3' ss Seq
AGCCGCCCCCACCCCTGCAGCTC
3' ss Score
7.34
5' ss Seq
TGGGTAAGC
5' ss Score
8.84
Exon sequences
Seq C1 exon
GCTGCAGGGCACGGATGTCGTCATCGCCATCTTCATCATCGTGGCCATGTCCTTCGTGCCGGCCAGCTTCGTTGTCTTCCTCGTGGCCGAGAAGTCCACCAAGGCCAAGCACCTGCAGTTTGTCAGCGGCTGCAACCCCATCATCTACTGGCTGGCGAACTACGTGTGGGACATG
Seq A exon
CTCAACTACCTGGTCCCCGCTACCTGCTGTGTCATCATCCTGTTTGTGTTCGACCTGCCGGCCTACACGTCGCCCACCAACTTCCCTGCCGTCCTCTCCCTCTTCCTGCTCTATGG
Seq C2 exon
GTGGTCCATCACGCCCATCATGTACCCGGCCTCCTTCTGGTTCGAGGTCCCCAGCTCCGCCTACGTGTTCCTCATTGTCATCAATCTCTTCATCGGCATCACCGCCACCGTGGCCACCTTCCTGCTACAGCTCTTCGAGCACGACAAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000107331-'66-72,'66-71,67-72
Average complexity
S
Mappability confidence:
100%=100=100%
Protein Impact
ORF disruption upon sequence exclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.000 A=0.000 C2=0.000
Domain overlap (PFAM):
C1:
PF126982=ABC2_membrane_3=FE(18.6=100)
A:
PF126982=ABC2_membrane_3=FE(12.2=100)
C2:
PF126982=ABC2_membrane_3=FE(15.8=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:
CCAGCTTCGTTGTCTTCCTCG
R:
AGAGCTGTAGCAGGAAGGTGG
Band lengths:
247-363
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains