HsaINT0000877 @ hg38
Intron Retention
Gene
ENSG00000154258 | ABCA9
Description
ATP binding cassette subfamily A member 9 [Source:HGNC Symbol;Acc:HGNC:39]
Coordinates
chr17:69017656-69018579:-
Coord C1 exon
chr17:69018413-69018579
Coord A exon
chr17:69017790-69018412
Coord C2 exon
chr17:69017656-69017789
Length
623 bp
Sequences
Splice sites
5' ss Seq
CAGGTGAAC
5' ss Score
5.56
3' ss Seq
TAATCTTTGCCTTCATGTAGGGT
3' ss Score
7.61
Exon sequences
Seq C1 exon
ATTATTGCTTTTTGGTATTAGCTTTATCCCTCAACTTTTGGAACATCTATTCTACGAGTCATATCAGAAAAGTTACCCGTGGGAACTGTCTCCAAATACATACTTCCTCTCACCAGGACAACAACCACAGGATCCTCTGACCCATTTACTGGTCATCAATAAGACAG
Seq A exon
GTGAACATGGGGCTGAAATGCAGCTGTTAAATGTTGTTCTTGTTGAGAGATTCCCCCCAAAAAACATGAACAGCCAAGAAAAAAATAAACTCTGTATGTTTTAGAAAGCATATATGAGGCCAAACAGAAAATAAATTAAAAAATGAAAAATACGACATGGGAGAGTTTGTTTTAGAAATAGATTCTGCAAGTTTACTTAACCTTAATGTTTGTTGCACAAAGCAACTAAAGAGGAGGTAGGGAGGTAAATCATTGACTCACCTCTGAGGTCTTTGTGTATCATTTTGTAAATCTGTGCTGTGCTGGGCTCTGGAAAAAAATGTTTCAAATTTAAAAAGATAGATAGACTATTAATAGCTTCAAGGATTATAATGTTAACAGCAATTCTTATTTCTATACTAATAGAAATTATAATGAAATGCCTAGGCTCTAGATAAAGTAACCTTGTCATACCTATGATGTTAGACTGGATTGTTGTACCAGAACATCAATTCTGCTTTTTTAAGAAAAGCCTTAGACAGTCCTTTTGTGTGATATGCTTTGTGTGATGTAATGTATTTTTAATATTACTTGACTATTGTTTTATTTCATTTTTGCTTCCTTTAATCTTTGCCTTCATGTAG
Seq C2 exon
GGTCAACCATTGATAACTTTTTACATTCACTGAGGCGACAGAACATAGCTATAGAAGTGGATGCCTTTGGAACTAGAAATGGCACAGATGACCCATCTTACAATGGTGCTATCATTGTGTCAGGTGATGAAAAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000154258:ENST00000340001:20
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=PU(2.3=12.3)
A:
NA
C2:
PF126982=ABC2_membrane_3=FE(14.4=100)
Main Inclusion Isoform:
NA
Other Inclusion Isoforms:
NA
Associated events
Other assemblies
Conservation
Zebrafish
(danRer10)
No conservation detected
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
TGCTTTTTGGTATTAGCTTTATCCCT
R:
TTTCATCACCTGACACAATGATAGCA
Band lengths:
294-917
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