HsaEX6032188 @ hg38
Exon Skipping
Gene
ENSG00000198691 | ABCA4
Description
ATP binding cassette subfamily A member 4 [Source:HGNC Symbol;Acc:HGNC:34]
Coordinates
chr1:94077690-94079461:-
Coord C1 exon
chr1:94079322-94079461
Coord A exon
chr1:94078590-94078706
Coord C2 exon
chr1:94077690-94077887
Length
117 bp
Sequences
Splice sites
3' ss Seq
TGATCTCTGTCTGGTTTTAGGCC
3' ss Score
10.26
5' ss Seq
AGAGTAAGG
5' ss Score
5.42
Exon sequences
Seq C1 exon
CATCCTTTTGTAATGCATTGATCCAGAGCCTGGAGTCAAATCCTTTAACCAAAATCGCTTGGAGGGCGGCAAAGCCTTTGCTGATGGGAAAAATCCTGTACACTCCTGATTCACCTGCAGCACGAAGGATACTGAAGAAT
Seq A exon
GCCAACTCAACTTTTGAAGAACTGGAACACGTTAGGAAGTTGGTCAAAGCCTGGGAAGAAGTAGGGCCCCAGATCTGGTACTTCTTTGACAACAGCACACAGATGAACATGATCAGA
Seq C2 exon
GATACCCTGGGGAACCCAACAGTAAAAGACTTTTTGAATAGGCAGCTTGGTGAAGAAGGTATTACTGCTGAAGCCATCCTAAACTTCCTCTACAAGGGCCCTCGGGAAAGCCAGGCTGACGACATGGCCAACTTCGACTGGAGGGACATATTTAACATCACTGATCGCACCCTCCGCCTGGTCAATCAATACCTGGAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000198691-'16-18,'16-16,18-18
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:
NO
A:
PF126982=ABC2_membrane_3=PU(4.5=48.7)
C2:
PF126982=ABC2_membrane_3=FE(15.3=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:
CAGAGCCTGGAGTCAAATCCT
R:
CCAGTCGAAGTTGGCCATGTC
Band lengths:
258-375
Functional annotations
There are 2 annotated functions for this event
PMID: 11320094
Encodes an experimentally validated Eukaryotic Linear Motif (ELM). Method: not specified. ELM ID: ELMI000562; ELM sequence: ANSTFE; Overlap: FULL
PMID: 11320094
Encodes an experimentally validated Eukaryotic Linear Motif (ELM). Method: not specified. ELM ID: ELMI000563; ELM sequence: DNSTQM; Overlap: FULL
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains