HsaINT0000901 @ hg38
Intron Retention
Gene
ENSG00000154258 | ABCA9
Description
ATP binding cassette subfamily A member 9 [Source:HGNC Symbol;Acc:HGNC:39]
Coordinates
chr17:69033726-69035431:-
Coord C1 exon
chr17:69035246-69035431
Coord A exon
chr17:69033874-69035245
Coord C2 exon
chr17:69033726-69033873
Length
1372 bp
Sequences
Splice sites
5' ss Seq
CAGGTAAGA
5' ss Score
10.77
3' ss Seq
ACTGTATCTTTCTTTTTCAGCTT
3' ss Score
11.18
Exon sequences
Seq C1 exon
ATAACTTTAGCTTTCCTGATGAGTGTGTTGATAAAGAAACCTTTCCTTACGGGCTTGGTTGTGTTTCTCCTTATTGTCTTTTGGGGGATCCTGGGATTCCCAGCATTGTATACACGTCTTCCTGCATTTTTGGAATGGACTTTGTGTCTTCTTAGCCCCTTTGCCTTCACTGTTGGGATGGCCCAG
Seq A exon
GTAAGAGTTAAGGTAACACTTTCACTTTTTACAAACCGTTCTACACAGATTCCCTCTTAATAATTCACACAACATGCTCTAAGCATTCCATTCTATAACTTTTGTAAAAATAAACATGTATGAGACAGGAGTGACTTTAATTTTTCTCTCTCAGTGTAATTAGTTTCCCCATAAGTCACTAAATATAGGATCATACCCTTATTATTGAGATGTTTCAGCTTCTACTTCTAATTGGTTGTCCCAGAGAACATTTGTCTCATTCAGTGCTCAGGAAACATGACCCTTAATGTTATCACAAGCATTTAAAAACCAGGAATTTGGAATAAATATATCTTTATTTTTTAATTGCTCATTTCTACATGAAACTGAACCTTGTCTCAGAAAAGTTAATTTTAGTTATGATATCATAACTATAATATGCTAAATGAAAGGTTCTGCTAGATATAAACTCATTGTATCCTACCGCAGTCCAGTTAAGACATTATTCTTCTGTCTTCTGCCCAACTACTGAAGTATTTTACTGTTTCATGTTTTCACTCTGAAATGGACTTCCTTGTTGAGAATGCCCTCCTTTTTTCTCATTCTAAGCCCAAAAAAGTCCTATTGCAGCACAGTCTGTAATAAGATTGAAAACAACGTAAATGTCCATTGGTAGATTACTGGTTAAATAAATTACAGTCCATCCATACAATGGAAAATGTGCAGCCATCAAAAAGAATTTTTAAAGACTGATGCTGTGACTCACACCTGTAAATCATAGCACTTTGGGAGGCTAAGATGGGTGGATCTCCTGTGGCAGAAGTTCAAGACCACCCTGGGCAACATGGTGAAACCCCATCTCCACAAATAAAAAAAAATTAGCCAGTCATGGTGGAGTGCATCTGTAGTCCTAGCTACTCTGGAGGCTGATGTGGGAGAATCACCTAGGTCCAGGAGGCTGAGCCTGCTGTGAGTTGAAATAGCACCACTGTACTCCAGCCTGGGTAACAGAGTGAGACCCTGTCTCAAAAAACAAACAAATAAACAAAAAATTTAAAAACACTTCTTGTACTGACATACAGAGTTTTGTAAACTATATTAGGTCCAGCTCAAATATCACCTTTCTTGAGTTTGTACTTCCTCCTAGAAAATGTACCTGGGGCTGCCTGTGGGTTTCTTAGTACTCAGTACTAGTACTAACTTCCATTCATTTCCCAAATTGACATCACTTCATTGCTATTAAAATTGTCTTCTATAATAGTAGACAGAGCTCTGTAGAGACAAGATTATATCTTATTTATCTTTGCAAACCCAGTTGTAGCAGAAATAAAACAATAATAATTCTTAATGCCATATTAATTCTTTTAAAATTCACTGTATCTTTCTTTTTCAG
Seq C2 exon
CTTATACATTTGGACTATGATGTGAATTCTAATGCCCACTTGGATTCTTCACAAAATCCATACCTCATAATAGCTACTCTTTTCATGTTGGTTTTTGACACCCTTCTGTATTTGGTATTGACATTATATTTTGACAAAATTTTGCCCG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000154258:ENST00000340001:8
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(15.5=100)
A:
NA
C2:
PF126982=ABC2_membrane_3=PD(10.7=84.0)
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:
AACTTTAGCTTTCCTGATGAGTGTGT
R:
TAATGTCAATACCAAATACAGAAGGG
Band lengths:
310-1682
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