HsaINT0000812 @ hg38
Intron Retention
Gene
ENSG00000064687 | ABCA7
Description
ATP binding cassette subfamily A member 7 [Source:HGNC Symbol;Acc:HGNC:37]
Coordinates
chr19:1058146-1058747:+
Coord C1 exon
chr19:1058146-1058269
Coord A exon
chr19:1058270-1058617
Coord C2 exon
chr19:1058618-1058747
Length
348 bp
Sequences
Splice sites
5' ss Seq
TGGGTGAGA
5' ss Score
6.04
3' ss Seq
CCTCCTTTCTATATCCACAGGAG
3' ss Score
11.25
Exon sequences
Seq C1 exon
AAGCTGCAGGAGGTGAGCCGGATCTTGAAACAGGTCTTCCTTATCTTCCCCCACTTCTGCTTGGGCCGGGGGCTCATTGACATGGTGCGGAACCAGGCCATGGCTGATGCCTTTGAGCGCTTGG
Seq A exon
GTGAGAACTTCCTGTCAGGTGGGGCCATGGCTACAGATAGCTAGCACCCTTGGAGACCTAGAGTTAATTATACAGAGTGGAGAAAAACAGCCCCCCAGGGAGACAGCCAGGGTTCTTAGGTGGCCCTAAGGTTGGGCCAAGTTGGAGGTACAAGAAAGCAGCCATAAAAAGCTAATTCTTAGATTACATCACAAGAGGCCTCTTCTGTTTTCTATGCCAATTAGACTCCAGCTGAGTGGCCTATCCAATTTGTGTTCCTTTCCCTTAAGAATCCAGAGTGACATGGATGGAGAAAGGGCCAGAAACCAAGACTCTCATGGACCCAGTCCCTCCTTTCTATATCCACAG
Seq C2 exon
GAGACAGGCAGTTCCAGTCACCCCTGCGCTGGGAGGTGGTCGGCAAGAACCTCTTGGCCATGGTGATACAGGGGCCCCTCTTCCTTCTCTTCACACTACTGCTGCAGCACCGAAGCCAACTCCTGCCACA
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000064687:ENST00000433129:36
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(12.9=100)
A:
NA
C2:
PF126982=ABC2_membrane_3=PD(10.4=75.0)
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:
AAGCTGCAGGAGGTGAGCC
R:
GGAGTTGGCTTCGGTGCTG
Band lengths:
247-595
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