HsaEX6032208 @ hg19
Exon Skipping
Gene
ENSG00000198691 | ABCA4
Description
ATP-binding cassette, sub-family A (ABC1), member 4 [Source:HGNC Symbol;Acc:34]
Coordinates
chr1:94488942-94491151:-
Coord C1 exon
chr1:94491119-94491151
Coord A exon
chr1:94490510-94490604
Coord C2 exon
chr1:94488942-94488974
Length
95 bp
Sequences
Splice sites
3' ss Seq
TGGGTGTCTCATTGCCTCAGAGA
3' ss Score
7.26
5' ss Seq
CAGGTAAGA
5' ss Score
10.77
Exon sequences
Seq C1 exon
GCTCGCCGAGAGACAGGGAGGGGAGTGTGGCAG
Seq A exon
AGAACACAGCGCAGCACGGAAATTCTACAAGACCTGACGGACAGGAACATCTCCGACTTCTTGGTAAAAACGTATCCTGCTCTTATAAGAAGCAG
Seq C2 exon
CTTAAAGAGCAAATTCTGGGTCAATGAACAGAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000198691-'34-34,'34-33,35-34=AN
Average complexity
A_C2
Mappability confidence:
100%=100=100%
Protein Impact
ORF disruption upon sequence exclusion
No structure available
Features
Disorder rate (Iupred):
C1=NA A=0.281 C2=0.000
Domain overlap (PFAM):
C1:
NA
A:
NO
C2:
NO
Main Skipping Isoform:
NA
Other Inclusion Isoforms:
NA
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
TCGCCGAGAGACAGGGAG
R:
TCTGTTCATTGACCCAGAATTTGC
Band lengths:
63-158
Functional annotations
There are 1 annotated functions for this event
PMID: 11320094
This event
Encodes an experimentally validated Eukaryotic Linear Motif (ELM). Method: not specified. ELM ID: ELMI000566; ELM sequence: RNISDF; Overlap: FULL
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains
Other AS DBs:
FasterDB (Includes CLIP-seq data)
AS-ALPS (AS-induced ALteration of Protein Structure, links to PINs)
APPRIS (Selection of principal isoform)
DEU primates (Only for human)