HsaEX6032211 @ hg19
Exon Skipping
Gene
ENSG00000198691 | ABCA4
Description
ATP-binding cassette, sub-family A (ABC1), member 4 [Source:HGNC Symbol;Acc:34]
Coordinates
chr1:94486796-94487507:-
Coord C1 exon
chr1:94487402-94487507
Coord A exon
chr1:94487196-94487270
Coord C2 exon
chr1:94486796-94486965
Length
75 bp
Sequences
Splice sites
3' ss Seq
TTTGTTTACATGGTTTTTAGGGC
3' ss Score
8.06
5' ss Seq
AAGGTACTT
5' ss Score
8.4
Exon sequences
Seq C1 exon
GTATGGAGGAATTTCCATTGGAGGAAAGCTCCCAGTCGTCCCCATCACGGGGGAAGCACTTGTTGGGTTTTTAAGCGACCTTGGCCGGATCATGAATGTGAGCGGG
Seq A exon
GGCCCTATCACTAGAGAGGCCTCTAAAGAAATACCTGATTTCCTTAAACATCTAGAAACTGAAGACAACATTAAG
Seq C2 exon
GTGTGGTTTAATAACAAAGGCTGGCATGCCCTGGTCAGCTTTCTCAATGTGGCCCACAACGCCATCTTACGGGCCAGCCTGCCTAAGGACAGGAGCCCCGAGGAGTATGGAATCACCGTCATTAGCCAACCCCTGAACCTGACCAAGGAGCAGCTCTCAGAGATTACAGT
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000198691-'37-37,'37-36,38-37=AN
Average complexity
A_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(6.4=76.0)
C2:
PF126982=ABC2_membrane_3=FE(18.7=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:
CCTTGGCCGGATCATGAATGT
R:
TCAGGTTCAGGGGTTGGCTAA
Band lengths:
170-245
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_LEFT
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)