HsaEX1001300 @ hg38
Exon Skipping
Gene
ENSG00000198691 | ABCA4
Description
ATP binding cassette subfamily A member 4 [Source:HGNC Symbol;Acc:HGNC:34]
Coordinates
chr1:94080756-94083441:-
Coord C1 exon
chr1:94083352-94083441
Coord A exon
chr1:94081166-94081403
Coord C2 exon
chr1:94080756-94080856
Length
238 bp
Sequences
Splice sites
3' ss Seq
TTCCCTCTTTTTCTCCCCAGTAT
3' ss Score
10.45
5' ss Seq
ACTGTAAGC
5' ss Score
4.95
Exon sequences
Seq C1 exon
CTTCCCACACTCCTAGACAGCCGTTCTCAAGGTATCAATCTGAGATCTTGGGGAGGAATATTATCTGATATGTCACCAAGAATTCAAGAG
Seq A exon
TATCCCCATCTTGGTGGGACAACAGAACCCAAGAACTGGCTTAACAGTAAAATATTTTCTGCATTTGCCCAAGGACACATTCCCAACGAATTCAAATAAAGGAGACTAGAAGAAGAGAGGCTATACTACAGTGCTCTAGGGGTCACTCTGTGATTTGTTGTTGTTGTTGTTGTTGTTTTGAGACGGAGTATTGCTCAGTCGCCCAGGCTGGAGTGCAGTGGCACGATGTCTACTCACT
Seq C2 exon
CTGGATTAAGGATTGCTGAGAATATATGGATGTTTTCTTTTAAATGTGGAAGTCAAACCAAACGTTGGAGCATTGGCCTCACAGCAGATTATGACTCTAGC
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000198691-'13-13,'13-12,14-13
Average complexity
C3
Mappability confidence:
100%=100=100%
Protein Impact
ORF disruption upon sequence inclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.000 A=0.031 C2=NA
Domain overlap (PFAM):
C1:
NO
A:
NO
C2:
NA
Main Inclusion Isoform:
ENST00000370225fB8352


Other Inclusion Isoforms:
NA
Other Skipping Isoforms:
NA
Associated events
Conservation
Mouse
(mm9)
No conservation detected
Cow
(bosTau6)
No conservation detected
Chicken
(galGal4)
No conservation detected
Chicken
(galGal3)
No conservation detected
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
CTTCCCACACTCCTAGACAGC
R:
AGAGTCATAATCTGCTGTGAGGC
Band lengths:
188-426
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains