HsaEX6024394 @ hg38
Exon Skipping
Gene
ENSG00000141338 | ABCA8
Description
ATP binding cassette subfamily A member 8 [Source:HGNC Symbol;Acc:HGNC:38]
Coordinates
chr17:68922242-68928063:-
Coord C1 exon
chr17:68927916-68928063
Coord A exon
chr17:68924701-68924869
Coord C2 exon
chr17:68922242-68922300
Length
169 bp
Sequences
Splice sites
3' ss Seq
ATTGTCTTCTGGCCATGTAGATG
3' ss Score
6.5
5' ss Seq
CAGGTAATA
5' ss Score
8.55
Exon sequences
Seq C1 exon
CTTTTACACTTGGACTATGATTTGAATTCTAATGCATTTCCTCATCCATCGGACGGCTCAAATCTCATTGTAGCAACAAATTTCATGTTGGCATTTGACACTTGCCTCTATCTGGCATTGGCGATTTACTTTGAAAAAATTTTGCCAA
Seq A exon
ATGAATATGGACATCGACGTCCACCTTTGTTTTTCCTGAAGTCCTCATTTTGGTCTCAAACACAAAAGACTGATCACGTGGCCCTTGAAGATGAAATGGATGCCGATCCTTCATTTCATGACTCTTTTGAACAAGCGCCTCCAGAATTCCAAGGGAAAGAAGCCATCAG
Seq C2 exon
AATCAGAAATGTTACAAAAGAATATAAAGGAAAGCCTGATAAAATAGAAGCCTTGAAAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000141338-'16-18,'16-17,18-18
Average complexity
C1
Mappability confidence:
100%=100=100%
Protein Impact
ORF disruption upon sequence exclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.000 A=0.177 C2=0.000
Domain overlap (PFAM):
C1:
PF126982=ABC2_membrane_3=PD(10.7=84.0)
A:
NO
C2:
PF0000522=ABC_tran=PU(1.3=9.5)
Main Skipping Isoform:
NA
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
TGGACTATGATTTGAATTCTAATGCA
R:
TCAAGGCTTCTATTTTATCAGGCT
Band lengths:
194-363
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains