HsaINT0000621 @ hg38
Intron Retention
Gene
ENSG00000107331 | ABCA2
Description
ATP binding cassette subfamily A member 2 [Source:HGNC Symbol;Acc:HGNC:32]
Coordinates
chr9:137021392-137022478:-
Coord C1 exon
chr9:137022351-137022478
Coord A exon
chr9:137022002-137022350
Coord C2 exon
chr9:137021392-137022001
Length
349 bp
Sequences
Splice sites
5' ss Seq
GAGGTAAGG
5' ss Score
10.28
3' ss Seq
CATTCCCCCACACCTCCTAGGTC
3' ss Score
7.84
Exon sequences
Seq C1 exon
TGTCTTCCTTCTCTCTGGACTCGGTGGCCAGAAACCCGCAGGAGCTCTGGCGTTTCCTGACGCAAAACTTGTCGCTGCCCAATAGCACGGCCCAAGCACTCTTGGCCGCCCGTGTGGACCCGCCCGAG
Seq A exon
GTAAGGCAGGGACAGCTCCCAGCCCTGGCCACTCCCTTCTGCCCCAGCCACGCCCCCTGGTTGCTGAGCCATCCTCAGGATGCTCAGCCTGAGTCACGCCCAGACCGTCTGAACCTTGCCCCCACCATCTGAGCCACGCCCCCACTCTCTGAGCCATGCCCCCACCATCTGAGCCACGCCCCCACACCTACATCGGAGCCACGCCCCCACCATCTGAGCCACGCCCCCACTCTCTGAGCCACGCCCCCACCATCTAAGCCACGCCCCCACACGTCCATCGGAGCCACGCCCCCACCATCTGAGCCACGCCCCCCACACCCCATCTGAGCCATTCCCCCACACCTCCTAG
Seq C2 exon
GTCTACCACCTGCTCTTTGGTCCCTCATCTGCCCTGGATTCACAGTCTGGCCTCCACAAGGGTCAGGAGCCCTGGAGCCGCCTAGGGGGCAATCCCCTGTTCCGGATGGAGGTGAGGGCATCCATGTGTGGGATGGGCCTGGAGTGCTGCCTGCCTCTGGGGGTGCTTCTGCTCCGTGGGTGAGGAAAGGGCCCCTTTGGTGACTTGGAGCTCCTCCTGGGAGAGGGGGAGGGTCCCAGGGGTCTATGGCAGGCATGAGGGGTAGAGGCATGTCGTGGGACCCAGGCAGCCCCAGAGCCAGCCAGTGGGTGGGGCAGGGTGAGGCCTGAGGCCCTAGTGGTTGGGGACAAAGTCCTTGCCGTGGCTCCACGGACCCCTGTGCCCATCCCAGGAGCTGCTGCTGGCTCCTGCCCTCCTGGAGCAGCTCACCTGCACGCCGGGCTCGGGGGAGCTGGGCCGGATCCTCACTGTGCCTGAGAGTCAGAAGGGAGCCCTGCAGGGCTACCGGGATGCTGTCTGCAGTGGGCAGGCTGCTGCGCGTGCCAGGCGCTTCTCTGGGCTGTCTGCTGAGCTCCGGAACCAGCTGGACGTGGCCAAGGTCTCCCAGCAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000107331:ENST00000464876:5
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=0.182
Domain overlap (PFAM):
C1:
NO
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:
CTGACGCAAAACTTGTCGCTG
R:
CGACATGCCTCTACCCCTCAT
Band lengths:
347-696
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