HsaEX6062297 @ hg38
Exon Skipping
Gene
ENSG00000165029 | ABCA1
Description
ATP binding cassette subfamily A member 1 [Source:HGNC Symbol;Acc:HGNC:29]
Coordinates
chr9:104793171-104796197:-
Coord C1 exon
chr9:104796053-104796197
Coord A exon
chr9:104794387-104794510
Coord C2 exon
chr9:104793171-104793300
Length
124 bp
Sequences
Splice sites
3' ss Seq
TTTTTTTTTTTTTTTTTTAGAAG
3' ss Score
10.52
5' ss Seq
TTGGTGAGT
5' ss Score
9.27
Exon sequences
Seq C1 exon
GTGGTCAATCACACCTCTCATGTACCCAGCCTCCTTTGTGTTCAAGATCCCCAGCACAGCCTATGTGGTGCTCACCAGCGTGAACCTCTTCATTGGCATTAATGGCAGCGTGGCCACCTTTGTGCTGGAGCTGTTCACCGACAAT
Seq A exon
AAGCTGAATAATATCAATGATATCCTGAAGTCCGTGTTCTTGATCTTCCCACATTTTTGCCTGGGACGAGGGCTCATCGACATGGTGAAAAACCAGGCAATGGCTGATGCCCTGGAAAGGTTTG
Seq C2 exon
GGGAGAATCGCTTTGTGTCACCATTATCTTGGGACTTGGTGGGACGAAACCTCTTCGCCATGGCCGTGGAAGGGGTGGTGTTCTTCCTCATTACTGTTCTGATCCAGTACAGATTCTTCATCAGGCCCAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000165029-'85-89,'85-87,86-89=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(9.1=100)
A:
PF126982=ABC2_membrane_3=FE(7.8=100)
C2:
PF126982=ABC2_membrane_3=PD(6.3=75.0)
Main Skipping Isoform:
NA
Other Inclusion Isoforms:
NA
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Chicken
(galGal3)
No conservation detected
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
CCCAGCCTCCTTTGTGTTCAA
R:
CTGGGCCTGATGAAGAATCTGT
Band lengths:
251-375
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains