HsaEX6032216 @ hg19
Exon Skipping
Gene
ENSG00000198691 | ABCA4
Description
ATP-binding cassette, sub-family A (ABC1), member 4 [Source:HGNC Symbol;Acc:34]
Coordinates
chr1:94476356-94480246:-
Coord C1 exon
chr1:94480099-94480246
Coord A exon
chr1:94476818-94476941
Coord C2 exon
chr1:94476356-94476485
Length
124 bp
Sequences
Splice sites
3' ss Seq
GTCCTACTTCTCTGTTTCAGACG
3' ss Score
10.03
5' ss Seq
TTGGTGGGT
5' ss Score
4.3
Exon sequences
Seq C1 exon
ATGGGCGGTCATTCCCATGATGTACCCAGCATCCTTCCTGTTTGATGTCCCCAGCACAGCCTATGTGGCTTTATCTTGTGCTAATCTGTTCATCGGCATCAACAGCAGTGCTATTACCTTCATCTTGGAATTATTTGAGAATAACCGG
Seq A exon
ACGCTGCTCAGGTTCAACGCCGTGCTGAGGAAGCTGCTCATTGTCTTCCCCCACTTCTGCCTGGGCCGGGGCCTCATTGACCTTGCACTGAGCCAGGCTGTGACAGATGTCTATGCCCGGTTTG
Seq C2 exon
GTGAGGAGCACTCTGCAAATCCGTTCCACTGGGACCTGATTGGGAAGAACCTGTTTGCCATGGTGGTGGAAGGGGTGGTGTACTTCCTCCTGACCCTGCTGGTCCAGCGCCACTTCTTCCTCTCCCAATG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000198691-'43-43,'43-42,44-43=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=0.000
Domain overlap (PFAM):
C1:
PF126982=ABC2_membrane_3=FE(16.4=100)
A:
PF126982=ABC2_membrane_3=FE(13.7=100)
C2:
PF126982=ABC2_membrane_3=PD(11.0=75.0)
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:
GGCGGTCATTCCCATGATGTA
R:
AGCAGGGTCAGGAGGAAGTAC
Band lengths:
245-369
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)