HsaEX6062293 @ hg38
Exon Skipping
Gene
ENSG00000165029 | ABCA1
Description
ATP binding cassette subfamily A member 1 [Source:HGNC Symbol;Acc:HGNC:29]
Coordinates
chr9:104798421-104800584:-
Coord C1 exon
chr9:104800510-104800584
Coord A exon
chr9:104799819-104799988
Coord C2 exon
chr9:104798421-104798598
Length
170 bp
Sequences
Splice sites
3' ss Seq
CCTGGTATGTTTTCTTTCAGGTG
3' ss Score
11.06
5' ss Seq
TCTGTAAGT
5' ss Score
7.96
Exon sequences
Seq C1 exon
GACAGTTCTGCAGATCGATTTCTCAACAGCTTGGGAAGATTTATGACAGGACTGGACACCAAAAATAATGTCAAG
Seq A exon
GTGTGGTTCAATAACAAGGGCTGGCATGCAATCAGCTCTTTCCTGAATGTCATCAACAATGCCATTCTCCGGGCCAACCTGCAAAAGGGAGAGAACCCTAGCCATTATGGAATTACTGCTTTCAATCATCCCCTGAATCTCACCAAGCAGCAGCTCTCAGAGGTGGCTCT
Seq C2 exon
GATGACCACATCAGTGGATGTCCTTGTGTCCATCTGTGTCATCTTTGCAATGTCCTTCGTCCCAGCCAGCTTTGTCGTATTCCTGATCCAGGAGCGGGTCAGCAAAGCAAAACACCTGCAGTTCATCAGTGGAGTGAAGCCTGTCATCTACTGGCTCTCTAATTTTGTCTGGGATATG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000165029-'79-80,'79-78,81-80=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=0.000 C2=0.000
Domain overlap (PFAM):
C1:
PF126982=ABC2_membrane_3=FE(4.6=100)
A:
PF126982=ABC2_membrane_3=FE(10.6=100)
C2:
PF126982=ABC2_membrane_3=FE(11.2=100)
Main Skipping Isoform:
NA
Other Inclusion Isoforms:
NA
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
CTGCAGATCGATTTCTCAACAGC
R:
TCCCAGACAAAATTAGAGAGCCA
Band lengths:
242-412
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains