HsaINT0000902 @ hg38
Intron Retention
Gene
ENSG00000154258 | ABCA9
Description
ATP binding cassette subfamily A member 9 [Source:HGNC Symbol;Acc:HGNC:39]
Coordinates
chr17:69032108-69033873:-
Coord C1 exon
chr17:69033726-69033873
Coord A exon
chr17:69032277-69033725
Coord C2 exon
chr17:69032108-69032276
Length
1449 bp
Sequences
Splice sites
5' ss Seq
CCGGTAAGT
5' ss Score
10.91
3' ss Seq
ATTGCCTCCTGCTCACATAGCTG
3' ss Score
6.23
Exon sequences
Seq C1 exon
CTTATACATTTGGACTATGATGTGAATTCTAATGCCCACTTGGATTCTTCACAAAATCCATACCTCATAATAGCTACTCTTTTCATGTTGGTTTTTGACACCCTTCTGTATTTGGTATTGACATTATATTTTGACAAAATTTTGCCCG
Seq A exon
GTAAGTACTAACATGGCTGTAATTTAACACAATTTCAATAATTGCATGTCTTTAAAACAACTCTACAATGTACTAAATAAAAATTAGCAAGCAGTTTTTCAAAATTTCTACAACAAGCCTAATGATATTCTATAGTTTGTTTATAGAATCACTTTCTAAGACTTGGCTCTGCTATAACACTCCAGAGTGTTTCTTTTTAAAAAGAGACACTTGTGAGAGATTATGGATGATGATACTATTAGTGTTTATGTCAGAACTAGATGAAGAATGCTGGTGCTTGATACTTGATCTTAGAAATCTCTAAGTGCTTTCCCATTTAACTCACTTGATATACAATAGTGGGTTATTAGTAAAAATATTATAATTGCATAGTCGATGTACAATCTTTCCTTTCTTTCTTTCCTTTTTTTTTTTTTTTTTTTGAGAAGTCTCGCTCTGTCACCCATGCTGGAGTGCAGTGGCGCGATCTCTGCTCACTGCAACCTCTGCCTCCCGGGTTCAAGTGATTCTCGTGCCTCAGCCTGCTGAGTAGCTGGGACTACAGACATGCCCCACCATGCCTGGCTAATTTTTGTGTTTTCAGTGGAGACGAGGTTTCACCATGTTGACCAGGCTGTCTTGAACTCCTGACCTCAGGTGATCTGCCCCTTTGGCCTCCCAAACTGCTGGAATTACAGGCATGAGCTACCATGCCGCCCTTATGTACAATCTTTCCTATAGAGAAACAAAATCTTCATCTGTGCATCTCTGGGGTCTGTCTGTCAATTCCTCGTATATACTAGGTAAGTGCTAAGGAAGAGGCAGAAAGGGAAATTGGGAAATGAAGGGAAGGAAGAGACCTTCTGAATAGTTTATTCATCACGTTTCTGGGAGTACTGATACAGAATAATGACTCGCTGATTATTTTAAAACTTCCCAAGTAAGAAATTTTGGAATGTATCATTAGTGTTATGACATTTACTATTATTCTTGGTGTATTGACCTTATCTAATCCAAATGGAGGAAATCACAAGCAGGAGAATTGCTTGAACCCGGGAAGCAGAGGTTGTAGTGAGCCGGGATCATGCTACTGGACTGCAGCCTGGGTGACAGAGTGAGACTCCATCTTAAAAAATAAAAAATAAAAAGGACACATAAGTACAGCTAGATAGAAAATTGTTCTTAATTAGATTTAAATTCCTCCTGAGACATCTCTCTGCATTTTGAGGAGCTTTTTAGTTAGTTAACAATGCTACATGCTTCTCATGTTAAAAACGTCATATTAGCCATCTCTGTTATTTTCTCCTCACTGTTCTGTGTGTGTCAAAAGCACATTAAAACAGTAATTAATACAGACCTTAATATGATAATGTGGGTTCAGGTTTAATGTCAAAGGGGCTGCACTGATATGCTGATGGAATCCTTGAAGCGATGACTGACCCAGTATTCAATTGCCTCCTGCTCACATAG
Seq C2 exon
CTGAATATGGACATCGATGTTCTCCCTTGTTTTTCCTGAAATCCTGTTTTTGGTTTCAACACGGAAGGGCTAATCATGTGGTCCTTGAGAATGAAACAGATTCTGATCCTACACCTAATGACTGTTTTGAACCAGTGTCTCCAGAATTCTGTGGGAAAGAAGCCATCAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000154258:ENST00000340001:9
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=0.088
Domain overlap (PFAM):
C1:
PF126982=ABC2_membrane_3=PD(10.7=84.0)
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:
GGACTATGATGTGAATTCTAATGCCC
R:
TGATGGCTTCTTTCCCACAGA
Band lengths:
305-1754
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