HsaEX6032217 @ hg19
Exon Skipping
Gene
ENSG00000198691 | ABCA4
Description
ATP-binding cassette, sub-family A (ABC1), member 4 [Source:HGNC Symbol;Acc:34]
Coordinates
chr1:94474307-94476941:-
Coord C1 exon
chr1:94476818-94476941
Coord A exon
chr1:94476356-94476485
Coord C2 exon
chr1:94474307-94474427
Length
130 bp
Sequences
Splice sites
3' ss Seq
CAATTCCTGTTGATGCCCAGGTG
3' ss Score
4.2
5' ss Seq
ATGGTACGT
5' ss Score
9.89
Exon sequences
Seq C1 exon
ACGCTGCTCAGGTTCAACGCCGTGCTGAGGAAGCTGCTCATTGTCTTCCCCCACTTCTGCCTGGGCCGGGGCCTCATTGACCTTGCACTGAGCCAGGCTGTGACAGATGTCTATGCCCGGTTTG
Seq A exon
GTGAGGAGCACTCTGCAAATCCGTTCCACTGGGACCTGATTGGGAAGAACCTGTTTGCCATGGTGGTGGAAGGGGTGGTGTACTTCCTCCTGACCCTGCTGGTCCAGCGCCACTTCTTCCTCTCCCAATG
Seq C2 exon
GATTGCCGAGCCCACTAAGGAGCCCATTGTTGATGAAGATGATGATGTGGCTGAAGAAAGACAAAGAATTATTACTGGTGGAAATAAAACTGACATCTTAAGGCTACATGAACTAACCAAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000198691-'44-44,'44-43,45-44=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=0.000 C2=0.098
Domain overlap (PFAM):
C1:
PF126982=ABC2_membrane_3=FE(13.7=100)
A:
PF126982=ABC2_membrane_3=PD(11.0=75.0)
C2:
NO
Main Skipping Isoform:
NA
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
ACGCTGCTCAGGTTCAACG
R:
TGGTTAGTTCATGTAGCCTTAAGA
Band lengths:
243-373
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)