HsaEX0000310 @ hg38
Exon Skipping
Gene
ENSG00000064687 | ABCA7
Description
ATP binding cassette subfamily A member 7 [Source:HGNC Symbol;Acc:HGNC:37]
Coordinates
chr19:1054193-1054878:+
Coord C1 exon
chr19:1054193-1054341
Coord A exon
chr19:1054570-1054694
Coord C2 exon
chr19:1054780-1054878
Length
125 bp
Sequences
Splice sites
3' ss Seq
CTGATGGGCTGGTCCCCCAGATC
3' ss Score
6.4
5' ss Seq
CAGGTGGGT
5' ss Score
8.56
Exon sequences
Seq C1 exon
CTGGGTCAGCCCCAGAGACTGACCAGGGCTCTGGGCCAGACGCCGTGGGCCGGGTACAGGGCTGGGCACTGACCCGCCAGCAGCTCCAGGCCCTGCTTCTCAAGCGCTTTCTGCTTGCCCGCCGCAGCCGCCGCGGCCTGTTCGCCCAG
Seq A exon
ATCGTGCTGCCTGCCCTCTTTGTGGGCCTGGCCCTCGTGTTCAGCCTCATCGTGCCTCCTTTCGGGCACTACCCGGCTCTGCGGCTCAGTCCCACCATGTACGGTGCTCAGGTGTCCTTCTTCAG
Seq C2 exon
TGAGGACGCCCCAGGGGACCCTGGACGTGCCCGGCTGCTCGAGGCGCTGCTGCAGGAGGCAGGACTGGAGGAGCCCCCAGTGCAGCATAGCTCCCACAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000064687_CASSETTE7
Average complexity
S*
Mappability confidence:
100%=100=100%
Protein Impact
ORF disruption upon sequence exclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.307 A=0.048 C2=0.265
Domain overlap (PFAM):
C1:
NO
A:
NO
C2:
NO
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
GTCAGCCCCAGAGACTGACC
R:
CTGTGGGAGCTATGCTGC
Band lengths:
244-369
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