HsaEX0000306 @ hg38
Exon Skipping
Gene
ENSG00000064687 | ABCA7
Description
ATP binding cassette subfamily A member 7 [Source:HGNC Symbol;Acc:HGNC:37]
Coordinates
chr19:1041510-1042176:+
Coord C1 exon
chr19:1041510-1041603
Coord A exon
chr19:1041831-1041972
Coord C2 exon
chr19:1042064-1042176
Length
142 bp
Sequences
Splice sites
3' ss Seq
CACCAGGCGTCTCCCCGCAGGCC
3' ss Score
7.84
5' ss Seq
CCTGTGAGC
5' ss Score
3.28
Exon sequences
Seq C1 exon
GTCCAGCTCCTGGTCGAATTGCTGTGGCCTCTCTTCCTCTTCTTCATCCTGGTGGCTGTTCGCCACTCCCACCCGCCCCTGGAGCACCATGAAT
Seq A exon
GCCACTTCCCAAACAAGCCACTGCCATCGGCGGGCACCGTGCCCTGGCTCCAGGGTCTCATCTGTAATGTGAACAACACCTGCTTTCCGCAGCTGACACCGGGCGAGGAGCCCGGGCGCCTGAGCAACTTCAACGACTCCCT
Seq C2 exon
GGTCTCCCGGCTGCTAGCCGATGCCCGCACTGTGCTGGGAGGGGCCAGTGCCCACAGGACGCTGGCTGGCCTAGGGAAGCTGATCGCCACGCTGAGGGCTGCACGCAGCACGG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000064687_CASSETTE1
Average complexity
S
Mappability confidence:
100%=100=100%
Protein Impact
ORF disruption upon sequence exclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.057 A=0.069 C2=0.086
Domain overlap (PFAM):
C1:
NO
A:
NO
C2:
NO
Main Skipping Isoform:
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:
CAGCTCCTGGTCGAATTGCTG
R:
CCTCAGCGTGGCGATCAG
Band lengths:
188-330
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