HsaINT0000813 @ hg38
Intron Retention
Gene
ENSG00000064687 | ABCA7
Description
ATP binding cassette subfamily A member 7 [Source:HGNC Symbol;Acc:HGNC:37]
Coordinates
chr19:1058618-1058940:+
Coord C1 exon
chr19:1058618-1058747
Coord A exon
chr19:1058748-1058819
Coord C2 exon
chr19:1058820-1058940
Length
72 bp
Sequences
Splice sites
5' ss Seq
ACAGTTAGT
5' ss Score
2.03
3' ss Seq
CACAGATATTCTGTCCCCAGGCC
3' ss Score
8.02
Exon sequences
Seq C1 exon
GAGACAGGCAGTTCCAGTCACCCCTGCGCTGGGAGGTGGTCGGCAAGAACCTCTTGGCCATGGTGATACAGGGGCCCCTCTTCCTTCTCTTCACACTACTGCTGCAGCACCGAAGCCAACTCCTGCCACA
Seq A exon
GTTAGTGAGGTCTATGGAGAGGGTGGCAGGGGCCAAGGACCTACTTTAAGCCCACAGATATTCTGTCCCCAG
Seq C2 exon
GCCCAGGGTGAGGTCTCTGCCACTCCTGGGAGAGGAGGACGAGGATGTAGCCCGTGAACGGGAGCGGGTGGTCCAAGGAGCCACCCAGGGGGATGTGTTGGTGCTGAGGAACTTGACCAAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000064687:ENST00000433129:37
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=0.122
Domain overlap (PFAM):
C1:
PF126982=ABC2_membrane_3=PD(10.4=75.0)
A:
NA
C2:
NO
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:
GGCCCCTCTTCCTTCTCTTCA
R:
TTCCTCAGCACCAACACATCC
Band lengths:
169-241
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