HsaEX6091454 @ hg38
Exon Skipping
Gene
ENSG00000064687 | ABCA7
Description
ATP binding cassette subfamily A member 7 [Source:HGNC Symbol;Acc:HGNC:37]
Coordinates
chr19:1040101-1041553:+
Coord C1 exon
chr19:1040101-1040196
Coord A exon
chr19:1041225-1041427
Coord C2 exon
chr19:1041510-1041553
Length
203 bp
Sequences
Splice sites
3' ss Seq
GTTTGCCTCGCTCTAATCAGAGC
3' ss Score
7.5
5' ss Seq
CCGGTAACG
5' ss Score
7.34
Exon sequences
Seq C1 exon
GCGGGCAAGCTCAGCGCACTTGGCTTAAGGGGCGGCGCGCTCCCTGCCTGCTGCTGGGCGGAGGGAAGGCGGCAAGAGCTGCGGAGCCCCTGGAAG
Seq A exon
AGCTTCCAGGAACCCTGCGCTGTGGGATAAAGGAATGAGGTTCAGAAAGGGGCAGGGAGTTGCCCGCAGCCGCACCGCACGTCTTCAGCCCGACCGTTGTCCTGACCTCTCTGTCCCGTCCCCTGCCCAGTCTCACCATGGCCTTCTGGACACAGCTGATGCTGCTGCTCTGGAAGAATTTCATGTATCGCCGGAGACAGCCG
Seq C2 exon
GTCCAGCTCCTGGTCGAATTGCTGTGGCCTCTCTTCCTCTTCTT
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000064687-'0-5,'0-2,2-5=AN
Average complexity
A_S
Mappability confidence:
100%=100=100%
Protein Impact
Alternative protein isoforms (Ref, Alt. ATG (>10 exons))
No structure available
Features
Disorder rate (Iupred):
C1=NA A=0.000 C2=0.050
Domain overlap (PFAM):
C1:
NA
A:
NO
C2:
NO
Main Skipping Isoform:
NA
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Cow
(bosTau6)
No conservation detected
Chicken
(galGal3)
No conservation detected
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
GCTCAGCGCACTTGGCTTAAG
R:
AAGAAGAGGAAGAGAGGCCACA
Band lengths:
132-335
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains