HsaINT0000801 @ hg38
Intron Retention
Gene
ENSG00000064687 | ABCA7
Description
ATP binding cassette subfamily A member 7 [Source:HGNC Symbol;Acc:HGNC:37]
Coordinates
chr19:1054193-1054694:+
Coord C1 exon
chr19:1054193-1054341
Coord A exon
chr19:1054342-1054569
Coord C2 exon
chr19:1054570-1054694
Length
228 bp
Sequences
Splice sites
5' ss Seq
CAGGTGAGG
5' ss Score
10.07
3' ss Seq
CTGATGGGCTGGTCCCCCAGATC
3' ss Score
6.4
Exon sequences
Seq C1 exon
CTGGGTCAGCCCCAGAGACTGACCAGGGCTCTGGGCCAGACGCCGTGGGCCGGGTACAGGGCTGGGCACTGACCCGCCAGCAGCTCCAGGCCCTGCTTCTCAAGCGCTTTCTGCTTGCCCGCCGCAGCCGCCGCGGCCTGTTCGCCCAG
Seq A exon
GTGAGGAGGGCTAGCACCAGGGAGTCGCATGGGAGTCCCTGAGTTCCCTACCCTGGCCGTCCACTCAGTGGCCTAATCCAAACCCTTACCCCCGTGTGTATTCCCAACCCAAAGCACATTTATTGAGGGCACTGGGGAGCCATGGGTGGTTGTAGAGCAGGAGCAGGGACAGGTGCAAGCAAGCCTGGAGGGTGGATGGAAGCAGCAGCTGATGGGCTGGTCCCCCAG
Seq C2 exon
ATCGTGCTGCCTGCCCTCTTTGTGGGCCTGGCCCTCGTGTTCAGCCTCATCGTGCCTCCTTTCGGGCACTACCCGGCTCTGCGGCTCAGTCCCACCATGTACGGTGCTCAGGTGTCCTTCTTCAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000064687:ENST00000433129:26
Average complexity
IR
Mappability confidence:
NA
Protein Impact
ORF disruption upon sequence inclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.307 A=NA C2=0.048
Domain overlap (PFAM):
C1:
NO
A:
NA
C2:
NO
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:
GTCAGCCCCAGAGACTGACC
R:
GAAGAAGGACACCTGAGCACC
Band lengths:
268-496
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains
- Pre-implantation embryo development