HsaEX0000316 @ hg38
Exon Skipping
Gene
ENSG00000064687 | ABCA7
Description
ATP binding cassette subfamily A member 7 [Source:HGNC Symbol;Acc:HGNC:37]
Coordinates
chr19:1057314-1058269:+
Coord C1 exon
chr19:1057314-1057429
Coord A exon
chr19:1057974-1058059
Coord C2 exon
chr19:1058146-1058269
Length
86 bp
Sequences
Splice sites
3' ss Seq
CTTCTCCGTGCCCAGCACAGCCT
3' ss Score
1.71
5' ss Seq
CAGGTGGGG
5' ss Score
6.92
Exon sequences
Seq C1 exon
TGTAACTACTTGGTGCCAGCATGCATCGTGGTGCTCATCTTTCTGGCCTTCCAGCAGAGGGCATATGTGGCCCCTGCCAACCTGCCTGCTCTCCTGCTGTTGCTACTACTGTATGG
Seq A exon
CCTATGTGGTGCTCACCTGCATAAACCTCTTTATTGGCATCAATGGAAGCATGGCCACCTTTGTGCTTGAGCTCTTCTCTGATCAG
Seq C2 exon
AAGCTGCAGGAGGTGAGCCGGATCTTGAAACAGGTCTTCCTTATCTTCCCCCACTTCTGCTTGGGCCGGGGGCTCATTGACATGGTGCGGAACCAGGCCATGGCTGATGCCTTTGAGCGCTTGG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000064687-'64-76,'64-75,65-76
Average complexity
C1*
Mappability confidence:
100%=100=100%
Protein Impact
In the CDS, with uncertain impact
No structure available
Features
Disorder rate (Iupred):
C1=0.000 A=0.000 C2=0.000
Domain overlap (PFAM):
C1:
PF126982=ABC2_membrane_3=FE(11.9=100)
A:
PF126982=ABC2_membrane_3=PD(6.1=25.0)
C2:
PF126982=ABC2_membrane_3=FE(12.9=100)
Main Inclusion Isoform:
ENST00000529442fB28
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
GGTGCTCATCTTTCTGGCCTT
R:
GGTTCCGCACCATGTCAATGA
Band lengths:
181-267
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Genotype-Tissue Expression Project (GTEx)
- Autistic and control brains
- Pre-implantation embryo development