HsaEX0000325 @ hg38
Exon Skipping
Gene
ENSG00000141338 | ABCA8
Description
ATP binding cassette subfamily A member 8 [Source:HGNC Symbol;Acc:HGNC:38]
Coordinates
chr17:68940758-68955351:-
Coord C1 exon
chr17:68955219-68955351
Coord A exon
chr17:68941939-68942039
Coord C2 exon
chr17:68940758-68940962
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
CAGAAGTCAAATAGTTAAAGCAAATTCTAGATACATGGTAGAGACCAGGAGAAAATATGAATAACTTTCTTCTAAACAAGGAGCTCAGTGGATAAACCATACCTCTAGATTCCTTGCTTCCATTTTCCCAGAA
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
In the CDS, with uncertain impact
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