HsaINT0000791 @ hg38
Intron Retention
Gene
ENSG00000064687 | ABCA7
Description
ATP binding cassette subfamily A member 7 [Source:HGNC Symbol;Acc:HGNC:37]
Coordinates
chr19:1049266-1051052:+
Coord C1 exon
chr19:1049266-1049437
Coord A exon
chr19:1049438-1050920
Coord C2 exon
chr19:1050921-1051052
Length
1483 bp
Sequences
Splice sites
5' ss Seq
CCTGTGAGC
5' ss Score
3.28
3' ss Seq
TGAGACCCCTCTATCCACAGGTC
3' ss Score
9.98
Exon sequences
Seq C1 exon
TGCTGGTAGAAGAGGCACCGCCCGGCCTGAGTCCTGGCGTCTCCGTTCGCAGCCTGGAGAAGCGCTTTCCTGGAAGCCCGCAGCCAGCCCTGCGGGGGCTCAGCCTGGACTTCTACCAGGGCCACATCACCGCCTTCCTGGGCCACAACGGGGCCGGCAAGACCACCACCCT
Seq A exon
GTGAGCCCCCAACCACTCCCTCCCCGTGAGCCCCCCCACTCCCACCCCGTGAGCCCCCCCACCACTCCCTCCCCGTGAGCCCCCCACCACTCCCTCCCCGTGAACCCCCCACCACTCCCTCCCCGTGAGCCCCCCCACCACTCCCTCCCCGTGAGCCCCCCACCACTCCCTCCCCGTGAACCCCCCACCACTCCCTCCCCGTGAGCCCCCCCACCACTCCCTCCCCGTGAACCCCCCACCACTCCCTCCCCGTGAGCCCCCCCACCACTCCCTCCCCGTGAGGCCCCCCACCACTCCCTCCCCGTGAACCCCCCACCACTCCCTCCCCGTGAGCCCCCCCACCACTCCCTCCCCGTGAACCCCCCACCACTCCCTCCCCGTGAGCCCCCCCACCACTCCCTCCCTGTGAGCCCCCCGACCGCTCCCTCCCCGTGAGCCCCCCCACCACTCCCTCCCTGTGAGCCCCCCCACCACTCCCTCCCTGTGAGTTCCCCCACCACTCCCTCCCTGTGAGTCCCCCACCACTCCCTCCCTGTGAGCCGCCCAAACCACTCCCTCCCTGTGAGCCCCCCACCACTTCCTCCCTGTGAGCTCCCTGTGAGGCCCCCGACCAGTCCCTCCCTGTGAGCAGTAATGGCGCCACTGCACTCCAGCTTGGGCAACGGAGTAAGACCCTGTCTCAAAATAAATAGGGCGGGAGTGGTGGCTCACGCCTGTAATCCCAGCACTTGGGCAAGCCGAGGTGGGAGGATTGCCTGAGGTCAGAGTTTGAGACACAGCCTGGCCAATATGGCAAAACCATCTCTACTAAAAATACAAAAATTAGCCGGGTGTGATGGTGGCGTGCACCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAACTGCTTGAACCCTGGAGGCGGAGGTTGCAGTGAGCCGAGACTGTGCCGTTGCACTCCAGCCTGGGCAACAGAGTGAGACTCTGTCACAAAAAAATAAAAATAAACAAATAAATAAAAATAAGGCTATCACAGGGTTTTGGATGTAGCATTTAATAGGTGCTCTGTGGCCAGGCGTGGTGGCTCAGGCCTGCAATCCCAGCACTTTGGGGGGCCGAGGCGGGTGGATCACGAGGTCAGGAGATTGAGATCATCCTGGCTAACATGGTGAAACAGTGAAACCCCGTCTCTACTAAAAATGCAAAAAAATTAGCCGGACATGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGTGGAGCTTGCAGTGAGCCGAGATCGTGCCGCTGCACTCCAGCCTGGGCAACAGAGTGAAACTCCGTCTCAAAAATAATAATAATAATAATAATAATAATAATAATAATAAATAATTAAAAATTTTTTAAAAACAGAAATTAAAAATAGAAGCTCTGTAACTGCCAGTGCACTCTGTGAAGGGGGCTACTCTGAGACCCCTCTATCCACAG
Seq C2 exon
GTCCATCTTGAGTGGCCTCTTCCCACCCAGTGGTGGCTCTGCCTTCATCCTGGGCCACGACGTCCGCTCCAGCATGGCCGCCATCCGGCCCCACCTGGGCGTCTGTCCTCAGTACAACGTGCTGTTTGACAT
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000064687:ENST00000433129:17
Average complexity
IR
Mappability confidence:
NA
Protein Impact
ORF disruption upon sequence inclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.034 A=NA C2=0.000
Domain overlap (PFAM):
C1:
PF0000522=ABC_tran=PU(18.6=46.6)
A:
NA
C2:
PF0000522=ABC_tran=FE(30.3=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:
TGCTGGTAGAAGAGGCACCG
R:
TGTCAAACAGCACGTTGTACTGA
Band lengths:
303-1786
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