HsaEX6024387 @ hg38
Exon Skipping
Gene
ENSG00000141338 | ABCA8
Description
ATP binding cassette subfamily A member 8 [Source:HGNC Symbol;Acc:HGNC:38]
Coordinates
chr17:68936951-68942039:-
Coord C1 exon
chr17:68941939-68942039
Coord A exon
chr17:68940758-68940962
Coord C2 exon
chr17:68936951-68937115
Length
205 bp
Sequences
Splice sites
3' ss Seq
TTTTTTCCTGTATTATATAGGAA
3' ss Score
9.59
5' ss Seq
CAGGTAAGT
5' ss Score
10.86
Exon sequences
Seq C1 exon
ACAAGATGAGGAAGAGAAAGATCAGTGTGTGTCAACAAACTTGGGCCTTATTATGCAAGAACTTTCTTAAAAAATGGAGAATGAAAAGAGAGTCCTTAATG
Seq A exon
GAATGGCTGAATTCATTGCTCCTACTACTTTGTTTGTATATATATCCTCATAGTCATCAAGTAAATGATTTTTCTTCACTGCTTACCATGGACCTGGGACGGGTAGATACATTTAATGAATCCAGATTTTCTGTTGTATACACACCTGTCACCAACACGACCCAACAGATAATGAATAAAGTAGCCTCTACTCCCTTCCTGGCAG
Seq C2 exon
GTAAAGAGGTCTTGGGACTGCCAGATGAGGAAAGTATTAAAGAATTCACAGCAAATTATCCTGAAGAAATAGTAAGAGTCACCTTTACTAATACATACTCATATCATTTGAAGTTCTTGCTAGGACATGGAATGCCAGCAAAGAAGGAGCACAAGGACCATACAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000141338-'4-5,'4-4,5-5=AN
Average complexity
A_C1
Mappability confidence:
100%=100=100%
Protein Impact
ORF disruption upon sequence exclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.000 A=0.000 C2=0.053
Domain overlap (PFAM):
C1:
PF126982=ABC2_membrane_3=PU(1.0=12.5)
A:
PF126982=ABC2_membrane_3=FE(17.4=100)
C2:
PF126982=ABC2_membrane_3=FE(14.1=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:
TGAGGAAGAGAAAGATCAGTGTGTG
R:
CTGTATGGTCCTTGTGCTCCT
Band lengths:
260-465
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains