HsaEX0000315 @ hg38
Exon Skipping
Gene
ENSG00000064687 | ABCA7
Description
ATP binding cassette subfamily A member 7 [Source:HGNC Symbol;Acc:HGNC:37]
Coordinates
chr19:1056907-1058269:+
Coord C1 exon
chr19:1056907-1057084
Coord A exon
chr19:1057314-1057429
Coord C2 exon
chr19:1058146-1058269
Length
116 bp
Sequences
Splice sites
3' ss Seq
AACTGCCATCTCCAATGCAGTGT
3' ss Score
5.33
5' ss Seq
TGGGTGAGG
5' ss Score
6.74
Exon sequences
Seq C1 exon
GATGGCCTCCTCGGTGGACGTCCTCGTCTCCATCTGTGTGGTCTTTGCCATGTCCTTTGTCCCGGCCAGCTTCACTCTTGTCCTCATTGAGGAGCGAGTCACCCGAGCCAAGCACCTGCAGCTCATGGGGGGCCTGTCCCCCACCCTCTACTGGCTTGGCAACTTTCTCTGGGACATG
Seq A exon
TGTAACTACTTGGTGCCAGCATGCATCGTGGTGCTCATCTTTCTGGCCTTCCAGCAGAGGGCATATGTGGCCCCTGCCAACCTGCCTGCTCTCCTGCTGTTGCTACTACTGTATGG
Seq C2 exon
AAGCTGCAGGAGGTGAGCCGGATCTTGAAACAGGTCTTCCTTATCTTCCCCCACTTCTGCTTGGGCCGGGGGCTCATTGACATGGTGCGGAACCAGGCCATGGCTGATGCCTTTGAGCGCTTGG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000064687_MULTIEX1-2/4=1-4
Average complexity
C3
Mappability confidence:
86%=100=86%
Protein Impact
ORF disruption upon sequence exclusion
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(18.6=100)
A:
PF126982=ABC2_membrane_3=FE(11.9=100)
C2:
PF126982=ABC2_membrane_3=FE(12.9=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:
CCATCTGTGTGGTCTTTGCCA
R:
GGTTCCGCACCATGTCAATGA
Band lengths:
243-359
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