HsaEX0000318 @ hg19
Exon Skipping
Gene
ENSG00000141338 | ABCA8
Description
ATP-binding cassette, sub-family A (ABC1), member 8 [Source:HGNC Symbol;Acc:38]
Coordinates
chr17:66917523-66921010:-
Coord C1 exon
chr17:66920842-66921010
Coord A exon
chr17:66918383-66918441
Coord C2 exon
chr17:66917523-66917633
Length
59 bp
Sequences
Splice sites
3' ss Seq
GTATCTTTTCTTTTTTTCAGAAT
3' ss Score
10.97
5' ss Seq
AAGGTAAAA
5' ss Score
8.38
Exon sequences
Seq C1 exon
ATGAATATGGACATCGACGTCCACCTTTGTTTTTCCTGAAGTCCTCATTTTGGTCTCAAACACAAAAGACTGATCACGTGGCCCTTGAAGATGAAATGGATGCCGATCCTTCATTTCATGACTCTTTTGAACAAGCGCCTCCAGAATTCCAAGGGAAAGAAGCCATCAG
Seq A exon
AATCAGAAATGTTACAAAAGAATATAAAGGAAAGCCTGATAAAATAGAAGCCTTGAAAG
Seq C2 exon
ATCTGGTATTTGACATTTACGAAGGCCAAATCACTGCAATACTTGGTCACAGTGGAGCTGGAAAGTCAACACTGCTAAACATTCTTAGTGGGTTGTCTGTTCCCACCAAAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000141338-'10-11,'10-10,11-11
Average complexity
S
Mappability confidence:
100%=100=100%
Protein Impact
ORF disruption upon sequence exclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.186 A=0.000 C2=0.000
Domain overlap (PFAM):
C1:
NO
A:
PF0000522=ABC_tran=PU(1.3=9.5)
C2:
PF0000522=ABC_tran=FE(23.7=100)
Main Skipping Isoform:
NA
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Zebrafish
(danRer10)
No conservation detected
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
AAAAGACTGATCACGTGGCCC
R:
TTGCAGTGATTTGGCCTTCGT
Band lengths:
145-204
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains
- Pre-implantation embryo development
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)