HsaEX6032210 @ hg19
Exon Skipping
Gene
ENSG00000198691 | ABCA4
Description
ATP-binding cassette, sub-family A (ABC1), member 4 [Source:HGNC Symbol;Acc:34]
Coordinates
chr1:94487196-94488974:-
Coord C1 exon
chr1:94488942-94488974
Coord A exon
chr1:94487402-94487507
Coord C2 exon
chr1:94487196-94487270
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-'36-36,'36-35,37-36=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 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:
AGCAAATTCTGGGTCAATGAACA
R:
AATGTTGTCTTCAGTTTCTAGATGTT
Band lengths:
98-204
Functional annotations
There are 1 annotated functions for this event
PMID: 11320094
This event
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
Other AS DBs:
FasterDB (Includes CLIP-seq data)
AS-ALPS (AS-induced ALteration of Protein Structure, links to PINs)
APPRIS (Selection of principal isoform)
DEU primates (Only for human)