HsaINT0000808 @ hg38
Intron Retention
Gene
ENSG00000064687 | ABCA7
Description
ATP binding cassette subfamily A member 7 [Source:HGNC Symbol;Acc:HGNC:37]
Coordinates
chr19:1056330-1057084:+
Coord C1 exon
chr19:1056330-1056499
Coord A exon
chr19:1056500-1056906
Coord C2 exon
chr19:1056907-1057084
Length
407 bp
Sequences
Splice sites
5' ss Seq
ACTGTGAGT
5' ss Score
7.94
3' ss Seq
TCTCATGTCTTCACCTCCAGGAT
3' ss Score
10.91
Exon sequences
Seq C1 exon
ATCTGGTTCAACAACAAAGGCTGGCACTCCATGGTGGCCTTTGTCAACCGAGCCAGCAACGCAATCCTCCGTGCTCACCTGCCCCCAGGCCCGGCCCGCCACGCCCACAGCATCACCACACTCAACCACCCCTTGAACCTCACCAAGGAGCAGCTGTCTGAGGGTGCACT
Seq A exon
GTGAGTCCCTCCACCCTGCATGTCCTACCCTGCACGTCCTACCCTGCCTCCATTTCTCTGTCGTTTGGGGTGGTGGGAGCTGGATTTGAACCCTGACACACTCTTGCTTTATAAATGGGGGATAGAAACTGTTCCTCTGCTCCCTAAGCCAGGGAAATGGGACCTCCTCAGACTCAGCGGGCCCCAGCCTCCCCCACACATCCTCATCCCACCAACCTTTATCCTGCCTGAGACCTGTACAACCTCTGCTGCCAAATCCCAGGCACCCTCATCCCTAAATTGCCCCTGCCATCTCTGCCACTGCTGACTGCCCCATAGACCTTTGTCCCATCAATGGCGTGTTCAGCTCTGCTCTGAGCAACCCATGCACCCTCACCCTACAACAGCTCTCATGTCTTCACCTCCAG
Seq C2 exon
GATGGCCTCCTCGGTGGACGTCCTCGTCTCCATCTGTGTGGTCTTTGCCATGTCCTTTGTCCCGGCCAGCTTCACTCTTGTCCTCATTGAGGAGCGAGTCACCCGAGCCAAGCACCTGCAGCTCATGGGGGGCCTGTCCCCCACCCTCTACTGGCTTGGCAACTTTCTCTGGGACATG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000064687:ENST00000433129:32
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=0.000
Domain overlap (PFAM):
C1:
PF126982=ABC2_membrane_3=FE(17.6=100)
A:
NA
C2:
PF126982=ABC2_membrane_3=FE(18.6=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:
GGTTCAACAACAAAGGCTGGC
R:
CATGTCCCAGAGAAAGTTGCCA
Band lengths:
344-751
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