HsaINT0000881 @ hg38
Intron Retention
Gene
ENSG00000154258 | ABCA9
Description
ATP binding cassette subfamily A member 9 [Source:HGNC Symbol;Acc:HGNC:39]
Coordinates
chr17:69007759-69008235:-
Coord C1 exon
chr17:69008062-69008235
Coord A exon
chr17:69007873-69008061
Coord C2 exon
chr17:69007759-69007872
Length
189 bp
Sequences
Splice sites
5' ss Seq
CAAGTAAGT
5' ss Score
10.08
3' ss Seq
CTTAACATTTCTGTTTTCAGATC
3' ss Score
10.54
Exon sequences
Seq C1 exon
AAAAAAGCTCATTCCCAGCTACGGATTTCAGGCCTCTACCCTTCTGCATACTGGTTTGGCCAAGCACTGGTGGATGTTTCCCTGTACTTTTTGATCCTCCTGCTAATGCAAATAATGGATTATATTTTTAGCCCAGAGGAGATTATATTTATAATTCAAAACCTGTTAATTCAA
Seq A exon
GTAAGTGGCAGCAATTTTGAAATGGTTTTATTAGACTATTTTTTCATGAATGCAGTAATATCATTAATCTTAAACCAAAGAACTTCAAATTACCTGTGCTATTGCATAGTTTTGGAAAATTGAAGAGTAAATATGAGTACTCTTCTAGATAGTATTTACCTTATTGGACCTTAACATTTCTGTTTTCAG
Seq C2 exon
ATCCTGTGTAGTATTGGCTATGTCTCATCTCTTGTTTTCTTGACATATGTGATTTCATTCATTTTTCGCAATGGGAGAAAAAATAGTGGCATTTGGTCATTTTTCTTCTTAATT
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000154258:ENST00000340001:24
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(18.7=100)
A:
NA
C2:
PF126982=ABC2_membrane_3=FE(12.1=100)
Main Inclusion Isoform:
NA

Other Inclusion Isoforms:
NA
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
AGCTCATTCCCAGCTACGGAT
R:
TCTCCCATTGCGAAAAATGAATGA
Band lengths:
247-436
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