HsaEX6062272 @ hg38
Exon Skipping
Gene
ENSG00000165029 | ABCA1
Description
ATP binding cassette subfamily A member 1 [Source:HGNC Symbol;Acc:HGNC:29]
Coordinates
chr9:104837428-104845569:-
Coord C1 exon
chr9:104845477-104845569
Coord A exon
chr9:104840279-104840519
Coord C2 exon
chr9:104837428-104837567
Length
241 bp
Sequences
Splice sites
3' ss Seq
GTCCCCATCCCTGACGCCAGCTG
3' ss Score
3.38
5' ss Seq
CAAGTGAGT
5' ss Score
9.1
Exon sequences
Seq C1 exon
AGAACACTAAACTCTACATCTCCCTTCCCGAGCAAGGAGCTGGCTGAAGCCACAAAAACATTGCTGCATAGTCTTGGGACTCTGGCCCAGGAG
Seq A exon
CTGTTCAGCATGAGAAGCTGGAGTGACATGCGACAGGAGGTGATGTTTCTGACCAATGTGAACAGCTCCAGCTCCTCCACCCAAATCTACCAGGCTGTGTCTCGTATTGTCTGCGGGCATCCCGAGGGAGGGGGGCTGAAGATCAAGTCTCTCAACTGGTATGAGGACAACAACTACAAAGCCCTCTTTGGAGGCAATGGCACTGAGGAAGATGCTGAAACCTTCTATGACAACTCTACAA
Seq C2 exon
CTCCTTACTGCAATGATTTGATGAAGAATTTGGAGTCTAGTCCTCTTTCCCGCATTATCTGGAAAGCTCTGAAGCCGCTGCTCGTTGGGAAGATCCTGTATACACCTGACACTCCAGCCACAAGGCAGGTCATGGCTGAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000165029-'41-33,'41-31,42-33=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=0.049 C2=0.021
Domain overlap (PFAM):
C1:
NO
A:
NO
C2:
NO

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:
ACTAAACTCTACATCTCCCTTCCCG
R:
CTCAGCCATGACCTGCCTTG
Band lengths:
228-469
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains