HsaEX0000302 @ hg38
Exon Skipping
Gene
ENSG00000064687 | ABCA7
Description
ATP binding cassette subfamily A member 7 [Source:HGNC Symbol;Acc:HGNC:37]
Coordinates
chr19:1059023-1062313:+
Coord C1 exon
chr19:1059023-1059085
Coord A exon
chr19:1061782-1061888
Coord C2 exon
chr19:1062172-1062313
Length
107 bp
Sequences
Splice sites
3' ss Seq
ATCTGTGGGCATCCCTGTAGTGT
3' ss Score
4.58
5' ss Seq
CAGGTGAGG
5' ss Score
10.07
Exon sequences
Seq C1 exon
GTATACCGTGGGCAGAGGATGCCAGCTGTTGACCGCTTGTGCCTGGGGATTCCCCCTGGTGAG
Seq A exon
TGTTTTGGGCTGCTGGGTGTGAATGGAGCAGGGAAGACGTCCACGTTTCGCATGGTGACGGGGGACACATTGGCCAGCAGGGGCGAGGCTGTGCTGGCAGGCCACAG
Seq C2 exon
CGTGGCCCGGGAACCCAGTGCTGCGCACCTCAGCATGGGATACTGCCCTCAATCCGATGCCATCTTTGAGCTGCTGACGGGCCGCGAGCACCTGGAGCTGCTTGCGCGCCTGCGCGGTGTCCCGGAGGCCCAGGTTGCCCAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000064687_MULTIEX2-1/4=C1-2
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=0.002
Domain overlap (PFAM):
C1:
PF0000522=ABC_tran=PU(7.6=52.4)
A:
PF0000522=ABC_tran=FE(24.1=100)
C2:
PF0000522=ABC_tran=FE(32.4=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:
GTATACCGTGGGCAGAGGATG
R:
CGCAAGCAGCTCCAGGTG
Band lengths:
169-276
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains
- Pre-implantation embryo development