HsaEX0000317 @ hg38
Exon Skipping
Gene
ENSG00000064687 | ABCA7
Description
ATP binding cassette subfamily A member 7 [Source:HGNC Symbol;Acc:HGNC:37]
Coordinates
chr19:1057915-1058747:+
Coord C1 exon
chr19:1057915-1058059
Coord A exon
chr19:1058146-1058269
Coord C2 exon
chr19:1058618-1058747
Length
124 bp
Sequences
Splice sites
3' ss Seq
CGTCTCCCACCCTTGAGCAGAAG
3' ss Score
4.48
5' ss Seq
TGGGTGAGA
5' ss Score
6.04
Exon sequences
Seq C1 exon
CTGGTCGATCACACCGCTCATGTACCCAGCCTCCTTCTTCTTCTCCGTGCCCAGCACAGCCTATGTGGTGCTCACCTGCATAAACCTCTTTATTGGCATCAATGGAAGCATGGCCACCTTTGTGCTTGAGCTCTTCTCTGATCAG
Seq A exon
AAGCTGCAGGAGGTGAGCCGGATCTTGAAACAGGTCTTCCTTATCTTCCCCCACTTCTGCTTGGGCCGGGGGCTCATTGACATGGTGCGGAACCAGGCCATGGCTGATGCCTTTGAGCGCTTGG
Seq C2 exon
GAGACAGGCAGTTCCAGTCACCCCTGCGCTGGGAGGTGGTCGGCAAGAACCTCTTGGCCATGGTGATACAGGGGCCCCTCTTCCTTCTCTTCACACTACTGCTGCAGCACCGAAGCCAACTCCTGCCACA
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000064687-'65-79,'65-76,68-79=AN
Average complexity
A_C1
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=0.000
Domain overlap (PFAM):
C1:
PF126982=ABC2_membrane_3=FE(15.1=100)
A:
PF126982=ABC2_membrane_3=FE(12.9=100)
C2:
PF126982=ABC2_membrane_3=PD(10.4=75.0)
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:
CGATCACACCGCTCATGTACC
R:
GCTGCAGCAGTAGTGTGAAGA
Band lengths:
248-372
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