HsaEX6032210 @ hg38
Exon Skipping
Gene
ENSG00000198691 | ABCA4
Description
ATP binding cassette subfamily A member 4 [Source:HGNC Symbol;Acc:HGNC:34]
Coordinates
chr1:94021640-94023418:-
Coord C1 exon
chr1:94023386-94023418
Coord A exon
chr1:94021846-94021951
Coord C2 exon
chr1:94021640-94021714
Length
106 bp
Sequences
Splice sites
3' ss Seq
ATTTCCTGTTTCCTTGTCAGGTA
3' ss Score
11.02
5' ss Seq
GGGGTATGT
5' ss Score
7.48
Exon sequences
Seq C1 exon
CTTAAAGAGCAAATTCTGGGTCAATGAACAGAG
Seq A exon
GTATGGAGGAATTTCCATTGGAGGAAAGCTCCCAGTCGTCCCCATCACGGGGGAAGCACTTGTTGGGTTTTTAAGCGACCTTGGCCGGATCATGAATGTGAGCGGG
Seq C2 exon
GGCCCTATCACTAGAGAGGCCTCTAAAGAAATACCTGATTTCCTTAAACATCTAGAAACTGAAGACAACATTAAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000198691-'61-76,'61-75,63-76=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=0.000 C2=0.000
Domain overlap (PFAM):
C1:
NO
A:
NO
C2:
PF126982=ABC2_membrane_3=PU(6.4=76.0)
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:
AGCAAATTCTGGGTCAATGAACA
R:
AATGTTGTCTTCAGTTTCTAGATGTT
Band lengths:
98-204
Functional annotations
There are 1 annotated functions for this event
PMID: 11320094
Partially encodes an experimentally validated Eukaryotic Linear Motif (ELM). Method: not specified. ELM ID: ELMI000567; ELM sequence: MNVSGG; Overlap: PARTIAL_RIGHT
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains