HsaINT0000853 @ hg38
Intron Retention
Gene
ENSG00000141338 | ABCA8
Description
ATP binding cassette subfamily A member 8 [Source:HGNC Symbol;Acc:HGNC:38]
Coordinates
chr17:68876460-68876703:-
Coord C1 exon
chr17:68876628-68876703
Coord A exon
chr17:68876555-68876627
Coord C2 exon
chr17:68876460-68876554
Length
73 bp
Sequences
Splice sites
5' ss Seq
AAGGTACGG
5' ss Score
10.26
3' ss Seq
GGCTGTTCCTCCCGTTGCAGCTG
3' ss Score
9.25
Exon sequences
Seq C1 exon
GTTAGTGGATGCGCTCAAGCTGCAGGACCAGCTGAAGTCTCCCGTGAAGACCTTGTCAGAGGGAATAAAGAGAAAG
Seq A exon
GTACGGGCAGGGCTTGGTGTTGCTCTGCAAGTGCCATAGATGGGAACCAGATGGGCTGTTCCTCCCGTTGCAG
Seq C2 exon
CTGTGCTTTGTCCTGAGCATACTGGGGAACCCGTCAGTGGTGCTTCTGGATGAGCCGTCGACCGGGATGGACCCCGAGGGGCAGCAGCAAATGTG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000141338:ENST00000269080:32
Average complexity
IR
Mappability confidence:
NA
Protein Impact
ORF disruption upon sequence inclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.000 A=NA C2=0.219
Domain overlap (PFAM):
C1:
PF0000522=ABC_tran=FE(17.7=100)
A:
NA
C2:
PF0000522=ABC_tran=PD(14.2=62.5)
Main Inclusion Isoform:
NA
Other Inclusion Isoforms:
NA
Associated events
Other assemblies
Conservation
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
TTAGTGGATGCGCTCAAGCTG
R:
ACATTTGCTGCTGCCCCTC
Band lengths:
169-242
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Genotype-Tissue Expression Project (GTEx)
- Autistic and control brains
- Pre-implantation embryo development