HsaEX6032207 @ hg38
Exon Skipping
Gene
ENSG00000198691 | ABCA4
Description
ATP binding cassette subfamily A member 4 [Source:HGNC Symbol;Acc:HGNC:34]
Coordinates
chr1:94024954-94030526:-
Coord C1 exon
chr1:94030428-94030526
Coord A exon
chr1:94029445-94029631
Coord C2 exon
chr1:94024954-94025048
Length
187 bp
Sequences
Splice sites
3' ss Seq
ATTTTCTTGTCTTCCATGAGGGA
3' ss Score
-8.92
5' ss Seq
CAGGTACCT
5' ss Score
8.16
Exon sequences
Seq C1 exon
CATGGATGAACCAGGCAGTGAGCAGTTCACGGTACTTGCAGACGTCCTCCTGAATAAGCCAGGCTTTGGCAACCGCTGCCTGAAGGAAGGGTGGCTTCC
Seq A exon
GGAGTACCCCTGTGGCAACTCAACACCCTGGAAGACTCCTTCTGTGTCCCCAAACATCACCCAGCTGTTCCAGAAGCAGAAATGGACACAGGTCAACCCTTCACCATCCTGCAGGTGCAGCACCAGGGAGAAGCTCACCATGCTGCCAGAGTGCCCCGAGGGTGCCGGGGGCCTCCCGCCCCCCCAG
Seq C2 exon
AGAACACAGCGCAGCACGGAAATTCTACAAGACCTGACGGACAGGAACATCTCCGACTTCTTGGTAAAAACGTATCCTGCTCTTATAAGAAGCAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000198691-'55-72,'55-66,56-72=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=0.222 C2=0.281
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:
GGATGAACCAGGCAGTGAGC
R:
TGCTTCTTATAAGAGCAGGATACGT
Band lengths:
190-377
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: ELMI000565; ELM sequence: PNITQL; Overlap: FULL
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains