HsaINT0000817 @ hg38
Intron Retention
Gene
ENSG00000064687 | ABCA7
Description
ATP binding cassette subfamily A member 7 [Source:HGNC Symbol;Acc:HGNC:37]
Coordinates
chr19:1061782-1062313:+
Coord C1 exon
chr19:1061782-1061888
Coord A exon
chr19:1061889-1062171
Coord C2 exon
chr19:1062172-1062313
Length
283 bp
Sequences
Splice sites
5' ss Seq
CAGGTGAGG
5' ss Score
10.07
3' ss Seq
CCCGGCGCCCCCATCCCCAGCGT
3' ss Score
6.99
Exon sequences
Seq C1 exon
TGTTTTGGGCTGCTGGGTGTGAATGGAGCAGGGAAGACGTCCACGTTTCGCATGGTGACGGGGGACACATTGGCCAGCAGGGGCGAGGCTGTGCTGGCAGGCCACAG
Seq A exon
GTGAGGGGTGCCAGGTAGGGTCAGGGTGGGGCAGGGTTGGCCCTGACGTCCTTGTGCTTCCCCACCCCTCCACCTCCAGTGAATGGACTGGGCTCACTGCCCCACACCTGCATGGTCTCTGAGACCCCTGCACCTCTACCTCCCACACGCGGACCAGGCCCTGAGACACCCCTGTCCCTTATCAGCGTGGCCCTGGATGGGTGGGCCCTGAGACCCCTGTGTTAGCCACCAGTATGGTCAGGGACTAGCCAGCTCTCTGAGCCCCCGGCGCCCCCATCCCCAG
Seq C2 exon
CGTGGCCCGGGAACCCAGTGCTGCGCACCTCAGCATGGGATACTGCCCTCAATCCGATGCCATCTTTGAGCTGCTGACGGGCCGCGAGCACCTGGAGCTGCTTGCGCGCCTGCGCGGTGTCCCGGAGGCCCAGGTTGCCCAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000064687:ENST00000433129:40
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=0.002
Domain overlap (PFAM):
C1:
PF0000522=ABC_tran=FE(24.1=100)
A:
NA
C2:
PF0000522=ABC_tran=FE(32.4=100)
Main Inclusion Isoform:
NA

Other Inclusion 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:
TGTTTTGGGCTGCTGGGTG
R:
CGCAAGCAGCTCCAGGTG
Band lengths:
213-496
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