HsaINT0000790 @ hg38
Intron Retention
Gene
ENSG00000064687 | ABCA7
Description
ATP binding cassette subfamily A member 7 [Source:HGNC Symbol;Acc:HGNC:37]
Coordinates
chr19:1048895-1049437:+
Coord C1 exon
chr19:1048895-1049005
Coord A exon
chr19:1049006-1049265
Coord C2 exon
chr19:1049266-1049437
Length
260 bp
Sequences
Splice sites
5' ss Seq
AGGGTGAGG
5' ss Score
7.13
3' ss Seq
AGTCCACCCCATCTCTGCAGTGC
3' ss Score
6.01
Exon sequences
Seq C1 exon
GCCAGTACGGGATCCCTGAACCATGGAATTTTCCTTTTCGGAGGAGCTACTGGTGCGGACCTCGGCCCCCCAAGAGTCCAGCCCCTTGCCCCACCCCGCTGGACCCAAAGG
Seq A exon
GTGAGGCACTACGAGGCTTAATAGCTGGTTGTCCACATATGCCCAGTTCCCCCCCAAAACGAGATTCCACAGATGCCAATGACAATGACCTGGACACCCCAACCCTCACACCTGCCCTGAAGACACTGCGGTCCCCAAGCTCCCGCAGCTTTTATAGGCCCCGGCCCAGCAGGTCCCGGATTCCACAGCCCAGCTCTGAGGGACTTGCAGGCCCCAGGACCCCCATGACCTCCATGGCTGAGTCCACCCCATCTCTGCAG
Seq C2 exon
TGCTGGTAGAAGAGGCACCGCCCGGCCTGAGTCCTGGCGTCTCCGTTCGCAGCCTGGAGAAGCGCTTTCCTGGAAGCCCGCAGCCAGCCCTGCGGGGGCTCAGCCTGGACTTCTACCAGGGCCACATCACCGCCTTCCTGGGCCACAACGGGGCCGGCAAGACCACCACCCT
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000064687:ENST00000433129:16
Average complexity
IR
Mappability confidence:
NA
Protein Impact
ORF disruption upon sequence inclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.289 A=NA C2=0.034
Domain overlap (PFAM):
C1:
NO
A:
NA
C2:
PF0000522=ABC_tran=PU(18.6=46.6)
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:
CAGTACGGGATCCCTGAACCA
R:
AGGGTGGTGGTCTTGCCG
Band lengths:
281-541
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