HsaINT0000786 @ hg38
Intron Retention
Gene
ENSG00000064687 | ABCA7
Description
ATP binding cassette subfamily A member 7 [Source:HGNC Symbol;Acc:HGNC:37]
Coordinates
chr19:1046230-1047024:+
Coord C1 exon
chr19:1046230-1046406
Coord A exon
chr19:1046407-1046801
Coord C2 exon
chr19:1046802-1047024
Length
395 bp
Sequences
Splice sites
5' ss Seq
CGTGTGAGC
5' ss Score
4
3' ss Seq
CCCAGCCGTCCCCACCCCAGGTT
3' ss Score
6.91
Exon sequences
Seq C1 exon
GTTTTGGGACCCTGGCCCAGCCGCGGACCCCCTGACCGACCTGCGCTACGTGTGGGGCGGCTTCGTGTACCTGCAAGACCTGGTGGAGCGTGCAGCCGTCCGCGTGCTCAGCGGCGCCAACCCCCGGGCCGGCCTCTACCTGCAGCAGATGCCCTATCCGTGCTATGTGGACGACGT
Seq A exon
GTGAGCTCTGGCACCCCTCCCCGCTCTTCCCCGCGGCGGGAAGGTCCCGGGTGTGGGGGTGGGCCCAGGCTCTGTTGGGAACCTTCCTGCGGTCCAGGCTGCGAACTTTGCACCTTTACACCACTCCACGTGACCTGCTGCAGCGGGAGGAGCAGGGGACTCTGAGGGTCTGGTGGGGGGGGGGACTCTGAGGGTCTGGGGGCCCCCGGCGCAGGGACAGCCTGGGCTGCACTGATGCCTGAGAGCCAAAGGCTGGCTGGATCAGGTTCCAAGGAACAGGGAGGCAAATCTTCCCGCCTTGAGATCCCGGGACACGAACCAGTCGTGCCAGATGGTGGGCGGAGGGGGGGTCTGCGGAGGGTCTCCAGCCTCCACCCCAGCCGTCCCCACCCCAG
Seq C2 exon
GTTCCTGCGTGTGCTGAGCCGGTCGCTGCCGCTCTTCCTGACGCTGGCCTGGATCTACTCCGTGACACTGACAGTGAAGGCCGTGGTGCGGGAGAAGGAGACGCGGCTGCGGGACACCATGCGCGCCATGGGGCTCAGCCGCGCGGTGCTCTGGCTAGGCTGGTTCCTCAGCTGCCTCGGGCCCTTCCTGCTCAGCGCCGCACTGCTGGTTCTGGTGCTCAAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000064687:ENST00000433129:12
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=0.000
Domain overlap (PFAM):
C1:
PF126982=ABC2_membrane_3=PU(4.1=15.0)
A:
NA
C2:
PF126982=ABC2_membrane_3=FE(33.8=100)
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:
GGCTTCGTGTACCTGCAAGAC
R:
CTTGAGCACCAGAACCAGCAG
Band lengths:
342-737
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