HsaEX6032208 @ hg38
Exon Skipping
Gene
ENSG00000198691 | ABCA4
Description
ATP binding cassette subfamily A member 4 [Source:HGNC Symbol;Acc:HGNC:34]
Coordinates
chr1:94023386-94029631:-
Coord C1 exon
chr1:94029445-94029631
Coord A exon
chr1:94024954-94025048
Coord C2 exon
chr1:94023386-94023418
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
GGAGTACCCCTGTGGCAACTCAACACCCTGGAAGACTCCTTCTGTGTCCCCAAACATCACCCAGCTGTTCCAGAAGCAGAAATGGACACAGGTCAACCCTTCACCATCCTGCAGGTGCAGCACCAGGGAGAAGCTCACCATGCTGCCAGAGTGCCCCGAGGGTGCCGGGGGCCTCCCGCCCCCCCAG
Seq A exon
AGAACACAGCGCAGCACGGAAATTCTACAAGACCTGACGGACAGGAACATCTCCGACTTCTTGGTAAAAACGTATCCTGCTCTTATAAGAAGCAG
Seq C2 exon
CTTAAAGAGCAAATTCTGGGTCAATGAACAGAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000198691-'56-73,'56-72,60-73=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=0.222 A=0.281 C2=0.000
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:
CCCAAACATCACCCAGCTGTT
R:
TGTTCATTGACCCAGAATTTGCT
Band lengths:
169-264
Functional annotations
There are 1 annotated functions for this event
PMID: 11320094
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