HsaEX0000325 @ hg19
Exon Skipping
Gene
ENSG00000141338 | ABCA8
Description
ATP-binding cassette, sub-family A (ABC1), member 8 [Source:HGNC Symbol;Acc:38]
Coordinates
chr17:66936899-66951533:-
Coord C1 exon
chr17:66951360-66951533
Coord A exon
chr17:66938080-66938180
Coord C2 exon
chr17:66936899-66937103
Length
101 bp
Sequences
Splice sites
3' ss Seq
TTTCTTTTTCATTAAACAAGACA
3' ss Score
1.67
5' ss Seq
ATGGTATGA
5' ss Score
6.56
Exon sequences
Seq C1 exon
ATAACCTCCACTCTGAAAGCAGTCTTCACAGAAACTTTTCACAGAAGTCAAATAGTTAAAGCAAATTCTAGATACATGGTAGAGACCAGGAGAAAATATGAATAACTTTCTTCTAAACAAGGAGCTCAGTGGATAAACCATACCTCTAGATTCCTTGCTTCCATTTTCCCAGAA
Seq A exon
ACAAGATGAGGAAGAGAAAGATCAGTGTGTGTCAACAAACTTGGGCCTTATTATGCAAGAACTTTCTTAAAAAATGGAGAATGAAAAGAGAGTCCTTAATG
Seq C2 exon
GAATGGCTGAATTCATTGCTCCTACTACTTTGTTTGTATATATATCCTCATAGTCATCAAGTAAATGATTTTTCTTCACTGCTTACCATGGACCTGGGACGGGTAGATACATTTAATGAATCCAGATTTTCTGTTGTATACACACCTGTCACCAACACGACCCAACAGATAATGAATAAAGTAGCCTCTACTCCCTTCCTGGCAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000141338_MULTIEX1-2/2=C1-C2
Average complexity
C1*
Mappability confidence:
100%=100=100%
Protein Impact
ORF disruption upon sequence exclusion
No structure available
Features
Disorder rate (Iupred):
C1=NA A=0.000 C2=0.000
Domain overlap (PFAM):
C1:
NA
A:
PF126982=ABC2_membrane_3=PU(1.0=12.5)
C2:
PF126982=ABC2_membrane_3=FE(17.4=100)
Main Skipping Isoform:
NA
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Chicken
(galGal3)
No conservation detected
Zebrafish
(danRer10)
No conservation detected
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
AAGGAGCTCAGTGGATAAACC
R:
CCAGGAAGGGAGTAGAGGCTAC
Band lengths:
258-359
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- The Cancer Genome Atlas (TCGA)
- Genotype-Tissue Expression Project (GTEx)
- 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)