HsaEX6032192 @ hg19
Exon Skipping
Gene
ENSG00000198691 | ABCA4
Description
ATP-binding cassette, sub-family A (ABC1), member 4 [Source:HGNC Symbol;Acc:34]
Coordinates
chr1:94522157-94526995:-
Coord C1 exon
chr1:94526939-94526995
Coord A exon
chr1:94526093-94526315
Coord C2 exon
chr1:94522157-94522378
Length
223 bp
Sequences
Splice sites
3' ss Seq
CTTCTCTCCTTTTGCTTTAGTTT
3' ss Score
9.46
5' ss Seq
ATGGTAAGC
5' ss Score
9.26
Exon sequences
Seq C1 exon
ACGTGTAAAGTTCACAAGAAAGTCGTTCCAGTGTATCAAATCTATCCTGTTTGCCAG
Seq A exon
TTTCATGATCATCCTGAACCGCTGTTTCCCTATCTTCATGGTGCTGGCATGGATCTACTCTGTCTCCATGACTGTGAAGAGCATCGTCTTGGAGAAGGAGTTGCGACTGAAGGAGACCTTGAAAAATCAGGGTGTCTCCAATGCAGTGATTTGGTGTACCTGGTTCCTGGACAGCTTCTCCATCATGTCGATGAGCATCTTCCTCCTGACGATATTCATCATG
Seq C2 exon
CATGGAAGAATCCTACATTACAGCGACCCATTCATCCTCTTCCTGTTCTTGTTGGCTTTCTCCACTGCCACCATCATGCTGTGCTTTCTGCTCAGCACCTTCTTCTCCAAGGCCAGTCTGGCAGCAGCCTGTAGTGGTGTCATCTATTTCACCCTCTACCTGCCACACATCCTGTGCTTCGCCTGGCAGGACCGCATGACCGCTGAGCTGAAGAAGGCTGTG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000198691-'14-15,'14-13,15-15=AN
Average complexity
A_C3
Mappability confidence:
100%=100=100%
Protein Impact
ORF disruption upon sequence exclusion
No structure available
Features
Disorder rate (Iupred):
C1=NA A=0.000 C2=0.000
Domain overlap (PFAM):
C1:
NA
A:
PF126982=ABC2_membrane_3=FE(21.5=100)
C2:
PF126982=ABC2_membrane_3=FE(21.2=100)
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:
CGTGTAAAGTTCACAAGAAAGTCGT
R:
CACAGCCTTCTTCAGCTCAGC
Band lengths:
278-501
Functional annotations
There are 0 annotated functions for this event
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)