HsaEX6032203 @ hg38
Exon Skipping
Gene
ENSG00000198691 | ABCA4
Description
ATP binding cassette subfamily A member 4 [Source:HGNC Symbol;Acc:HGNC:34]
Coordinates
chr1:94031778-94037350:-
Coord C1 exon
chr1:94037145-94037350
Coord A exon
chr1:94036740-94036788
Coord C2 exon
chr1:94031778-94032043
Length
49 bp
Sequences
Splice sites
3' ss Seq
TCTTTTTTTCTTCTTGACAGATT
3' ss Score
11.44
5' ss Seq
CGGGTATGG
5' ss Score
8.17
Exon sequences
Seq C1 exon
GGGATGTAAATGAGCTGATGGATGTAGTTCTCCACCATGTTCCAGAGGCAAAGCTGGTGGAGTGCATTGGTCAAGAACTTATCTTCCTTCTTCCAAATAAGAACTTCAAGCACAGAGCATATGCCAGCCTTTTCAGAGAGCTGGAGGAGACGCTGGCTGACCTTGGTCTCAGCAGTTTTGGAATTTCTGACACTCCCCTGGAAGAG
Seq A exon
ATTTTTCTGAAGGTCACGGAGGATTCTGATTCAGGACCTCTGTTTGCGG
Seq C2 exon
GTGGCGCTCAGCAGAAAAGAGAAAACGTCAACCCCCGACACCCCTGCTTGGGTCCCAGAGAGAAGGCTGGACAGACACCCCAGGACTCCAATGTCTGCTCCCCAGGGGCGCCGGCTGCTCACCCAGAGGGCCAGCCTCCCCCAGAGCCAGAGTGCCCAGGCCCGCAGCTCAACACGGGGACACAGCTGGTCCTCCAGCATGTGCAGGCGCTGCTGGTCAAGAGATTCCAACACACCATCCGCAGCCACAAGGACTTCCTGGCGCAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000198691-'49-58,'49-56,50-58=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=0.011 A=0.456 C2=0.652
Domain overlap (PFAM):
C1:
NO
A:
NO
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:
CACAGAGCATATGCCAGCCTT
R:
CGGGGGTTGACGTTTTCTCTT
Band lengths:
133-182
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains