HsaEX6091436 @ hg38
Exon Skipping
Gene
ENSG00000064687 | ABCA7
Description
ATP binding cassette subfamily A member 7 [Source:HGNC Symbol;Acc:HGNC:37]
Coordinates
chr19:1058618-1059085:+
Coord C1 exon
chr19:1058618-1058747
Coord A exon
chr19:1058820-1058940
Coord C2 exon
chr19:1059023-1059085
Length
121 bp
Sequences
Splice sites
3' ss Seq
CACAGATATTCTGTCCCCAGGCC
3' ss Score
8.02
5' ss Seq
AAGGTAGGT
5' ss Score
10.29
Exon sequences
Seq C1 exon
GAGACAGGCAGTTCCAGTCACCCCTGCGCTGGGAGGTGGTCGGCAAGAACCTCTTGGCCATGGTGATACAGGGGCCCCTCTTCCTTCTCTTCACACTACTGCTGCAGCACCGAAGCCAACTCCTGCCACA
Seq A exon
GCCCAGGGTGAGGTCTCTGCCACTCCTGGGAGAGGAGGACGAGGATGTAGCCCGTGAACGGGAGCGGGTGGTCCAAGGAGCCACCCAGGGGGATGTGTTGGTGCTGAGGAACTTGACCAAG
Seq C2 exon
GTATACCGTGGGCAGAGGATGCCAGCTGTTGACCGCTTGTGCCTGGGGATTCCCCCTGGTGAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000064687-'70-83,'70-81,72-83=AN
Average complexity
A_S
Mappability confidence:
100%=100=100%
Protein Impact
ORF disruption upon sequence exclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.000 A=0.122 C2=0.000
Domain overlap (PFAM):
C1:
PF126982=ABC2_membrane_3=PD(10.4=75.0)
A:
NO
C2:
PF0000522=ABC_tran=PU(7.6=52.4)
Main Skipping Isoform:
NA
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Rat
(rn6)
No conservation detected
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
GACAGGCAGTTCCAGTCACC
R:
GGAATCCCCAGGCACAAGC
Band lengths:
181-302
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains