HsaEX6032189 @ hg38
Exon Skipping
Gene
ENSG00000198691 | ABCA4
Description
ATP binding cassette subfamily A member 4 [Source:HGNC Symbol;Acc:HGNC:34]
Coordinates
chr1:94063112-94078706:-
Coord C1 exon
chr1:94078590-94078706
Coord A exon
chr1:94077690-94077887
Coord C2 exon
chr1:94063112-94063317
Length
198 bp
Sequences
Splice sites
3' ss Seq
CTGTATTTCTTCTTCCCAAGGAT
3' ss Score
8
5' ss Seq
GAGGTAAGG
5' ss Score
10.28
Exon sequences
Seq C1 exon
GCCAACTCAACTTTTGAAGAACTGGAACACGTTAGGAAGTTGGTCAAAGCCTGGGAAGAAGTAGGGCCCCAGATCTGGTACTTCTTTGACAACAGCACACAGATGAACATGATCAGA
Seq A exon
GATACCCTGGGGAACCCAACAGTAAAAGACTTTTTGAATAGGCAGCTTGGTGAAGAAGGTATTACTGCTGAAGCCATCCTAAACTTCCTCTACAAGGGCCCTCGGGAAAGCCAGGCTGACGACATGGCCAACTTCGACTGGAGGGACATATTTAACATCACTGATCGCACCCTCCGCCTGGTCAATCAATACCTGGAG
Seq C2 exon
TGCTTGGTCCTGGATAAGTTTGAAAGCTACAATGATGAAACTCAGCTCACCCAACGTGCCCTCTCTCTACTGGAGGAAAACATGTTCTGGGCCGGAGTGGTATTCCCTGACATGTATCCCTGGACCAGCTCTCTACCACCCCACGTGAAGTATAAGATCCGAATGGACATAGACGTGGTGGAGAAAACCAATAAGATTAAAGACAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000198691-'18-25,'18-18,19-25
Average complexity
S
Mappability confidence:
100%=100=100%
Protein Impact
Alternative protein isoforms (Ref)
No structure available
Features
Disorder rate (Iupred):
C1=0.000 A=0.000 C2=0.000
Domain overlap (PFAM):
C1:
PF126982=ABC2_membrane_3=PU(4.5=48.7)
A:
PF126982=ABC2_membrane_3=FE(15.3=100)
C2:
PF126982=ABC2_membrane_3=FE(19.8=100)
Main Skipping Isoform:
NA
Other Inclusion Isoforms:
NA
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
GGAAGAAGTAGGGCCCCAGAT
R:
TCTCCACCACGTCTATGTCCA
Band lengths:
248-446
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: ELMI000564; ELM sequence: FNITDR; Overlap: FULL
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains