HsaEX0000223 @ hg38
Exon Skipping
Gene
ENSG00000165029 | ABCA1
Description
ATP binding cassette subfamily A member 1 [Source:HGNC Symbol;Acc:HGNC:29]
Coordinates
chr9:104816143-104818883:-
Coord C1 exon
chr9:104818663-104818883
Coord A exon
chr9:104817332-104817404
Coord C2 exon
chr9:104816143-104816345
Length
73 bp
Sequences
Splice sites
3' ss Seq
ACCTCCTTCTTTGCCATCAGGAG
3' ss Score
9.29
5' ss Seq
TCGGTAAGG
5' ss Score
10.48
Exon sequences
Seq C1 exon
GCCGCACCATTATTCTCTCTACACACCACATGGATGAAGCGGACGTCCTGGGGGACAGGATTGCCATCATCTCCCATGGGAAGCTGTGCTGTGTGGGCTCCTCCCTGTTTCTGAAGAACCAGCTGGGAACAGGCTACTACCTGACCTTGGTCAAGAAAGATGTGGAATCCTCCCTCAGTTCCTGCAGAAACAGTAGTAGCACTGTGTCATACCTGAAAAAG
Seq A exon
GAGGACAGTGTTTCTCAGAGCAGTTCTGATGCTGGCCTGGGCAGCGACCATGAGAGTGACACGCTGACCATCG
Seq C2 exon
ATGTCTCTGCTATCTCCAACCTCATCAGGAAGCATGTGTCTGAAGCCCGGCTGGTGGAAGACATAGGGCATGAGCTGACCTATGTGCTGCCATATGAAGCTGCTAAGGAGGGAGCCTTTGTGGAACTCTTTCATGAGATTGATGACCGGCTCTCAGACCTGGGCATTTCTAGTTATGGCATCTCAGAGACGACCCTGGAAGAA
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000165029_MULTIEX3-1/3=C1-C2
Average complexity
ME(1-2[100=100])
Mappability confidence:
100%=100=100%
Protein Impact
ORF disruption upon sequence exclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.000 A=0.320 C2=0.012
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:
AATCCTCCCTCAGTTCCTGCA
R:
ACAAAGGCTCCCTCCTTAGCA
Band lengths:
177-250
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- The Cancer Genome Atlas (TCGA)
- Genotype-Tissue Expression Project (GTEx)
- Autistic and control brains
- Pre-implantation embryo development