HsaINT0000623 @ hg38
Intron Retention
Gene
ENSG00000107331 | ABCA2
Description
ATP binding cassette subfamily A member 2 [Source:HGNC Symbol;Acc:HGNC:32]
Coordinates
chr9:137020694-137022001:-
Coord C1 exon
chr9:137021392-137022001
Coord A exon
chr9:137021062-137021391
Coord C2 exon
chr9:137020694-137021061
Length
330 bp
Sequences
Splice sites
5' ss Seq
CAGGTGAGG
5' ss Score
10.07
3' ss Seq
ACGTGCCTGTTTCCCCTCAGCTG
3' ss Score
9.67
Exon sequences
Seq C1 exon
GTCTACCACCTGCTCTTTGGTCCCTCATCTGCCCTGGATTCACAGTCTGGCCTCCACAAGGGTCAGGAGCCCTGGAGCCGCCTAGGGGGCAATCCCCTGTTCCGGATGGAGGTGAGGGCATCCATGTGTGGGATGGGCCTGGAGTGCTGCCTGCCTCTGGGGGTGCTTCTGCTCCGTGGGTGAGGAAAGGGCCCCTTTGGTGACTTGGAGCTCCTCCTGGGAGAGGGGGAGGGTCCCAGGGGTCTATGGCAGGCATGAGGGGTAGAGGCATGTCGTGGGACCCAGGCAGCCCCAGAGCCAGCCAGTGGGTGGGGCAGGGTGAGGCCTGAGGCCCTAGTGGTTGGGGACAAAGTCCTTGCCGTGGCTCCACGGACCCCTGTGCCCATCCCAGGAGCTGCTGCTGGCTCCTGCCCTCCTGGAGCAGCTCACCTGCACGCCGGGCTCGGGGGAGCTGGGCCGGATCCTCACTGTGCCTGAGAGTCAGAAGGGAGCCCTGCAGGGCTACCGGGATGCTGTCTGCAGTGGGCAGGCTGCTGCGCGTGCCAGGCGCTTCTCTGGGCTGTCTGCTGAGCTCCGGAACCAGCTGGACGTGGCCAAGGTCTCCCAGCAG
Seq A exon
GTGAGGCCCTGCCTGCCCACTGCCCGCTGCGCTGCTTGCTGCCTGAGTTGAAGGAGGGGCTGGGACCGCTTGGAGAGCTCAGGGCTCCTGGGCCCAGGCTGTGCGTGGGATGCTGCCTGTGGGTGGGTATCCAATGGCACCATGGCTGGTGCCCCACTCCTGCTCACCATCCCAGCTCCTGTCCTGGGCTCCCGTTACCCAGGCTGCAGACTCCCTCCCAGCACCCCTAGCTTGTGTCTCCCTGCTGCTGTCTCCCTGCTCCACTCCTGACCTATCACCCACCTGCAGTCCATCTCACCCCGCACTGCCCACGTGCCTGTTTCCCCTCAG
Seq C2 exon
CTGGGCCTGGATGCCCCCAACGGCTCGGACTCCTCGCCACAGGCGCCACCCCCACGGAGGCTGCAGGCGCTTCTGGGGGACCTGCTGGATGCCCAGAAGGTTCTGCAGGATGTGGATGTCCTGTCGGCCCTGGCCCTGCTACTGCCCCAGGGTGCCTGCACTGGCCGGACCCCCGGACCCCCAGCCAGTGGTGCGGGTGGGGCGGCCAATGGCACTGGGGCAGGGGCAGTCATGGGCCCCAACGCCACCGCTGAGGAGGGCGCACCCTCTGCTGCAGCACTGGCCACCCCGGACACGCTGCAGGGCCAGTGCTCAGCCTTCGTACAGCTCTGGGCCGGCCTGCAGCCCATCTTGTGTGGCAACAACCG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000107331:ENST00000464876:6
Average complexity
IR
Mappability confidence:
NA
Protein Impact
ORF disruption upon sequence inclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.182 A=NA C2=0.521
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:
CTGGACGTGGCCAAGGTCTC
R:
CTGTACGAAGGCTGAGCACTG
Band lengths:
354-684
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