HsaEX6091439 @ hg38
Exon Skipping
Gene
ENSG00000064687 | ABCA7
Description
ATP binding cassette subfamily A member 7 [Source:HGNC Symbol;Acc:HGNC:37]
Coordinates
chr19:1055907-1056499:+
Coord C1 exon
chr19:1055907-1055939
Coord A exon
chr19:1056066-1056243
Coord C2 exon
chr19:1056330-1056499
Length
178 bp
Sequences
Splice sites
3' ss Seq
CTGCCTGCATGGCCCCACAGATA
3' ss Score
8.44
5' ss Seq
AAGGTGGGA
5' ss Score
6.03
Exon sequences
Seq C1 exon
CCTGAAGACTAAGAAGTGGGTGAATGAGGTCAG
Seq A exon
ATACGGAGGCTTCTCGCTGGGGGGCCGAGACCCAGGCCTGCCCTCGGGCCAAGAGTTGGGCCGCTCAGTGGAGGAGTTGTGGGCGCTGCTGAGTCCCCTGCCTGGCGGGGCCCTCGACCGTGTCCTGAAAAACCTCACAGCCTGGGCTCACAGCCTGGATGCTCAGGACAGTCTCAAG
Seq C2 exon
ATCTGGTTCAACAACAAAGGCTGGCACTCCATGGTGGCCTTTGTCAACCGAGCCAGCAACGCAATCCTCCGTGCTCACCTGCCCCCAGGCCCGGCCCGCCACGCCCACAGCATCACCACACTCAACCACCCCTTGAACCTCACCAAGGAGCAGCTGTCTGAGGGTGCACT
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000064687-'58-62,'58-61,59-62
Average complexity
C1
Mappability confidence:
100%=100=100%
Protein Impact
ORF disruption upon sequence exclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.027 A=0.150 C2=0.000
Domain overlap (PFAM):
C1:
NO
A:
PF126982=ABC2_membrane_3=PU(12.3=65.0)
C2:
PF126982=ABC2_membrane_3=FE(17.6=100)
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:
CCTGAAGACTAAGAAGTGGGTGA
R:
AGTGCACCCTCAGACAGCTG
Band lengths:
203-381
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains