HsaINT0000727 @ hg38
Intron Retention
Gene
ENSG00000154265 | ABCA5
Description
ATP binding cassette subfamily A member 5 [Source:HGNC Symbol;Acc:HGNC:35]
Coordinates
chr17:69255733-69256283:-
Coord C1 exon
chr17:69256157-69256283
Coord A exon
chr17:69255851-69256156
Coord C2 exon
chr17:69255733-69255850
Length
306 bp
Sequences
Splice sites
5' ss Seq
GAGGTAATT
5' ss Score
8.88
3' ss Seq
AATACAATTTTTCTTATTAGAAA
3' ss Score
6.04
Exon sequences
Seq C1 exon
AAACCTTTCAACGAAGTCTAAAAATAGGAAGCTTCCAGAACCACCAGACAATGAGGATGAAGATGAAGATGTCAAAGCTGAAAGACTAAAGGTCAAAGAGCTGATGGGTTGCCAGTGTTGTGAGGAG
Seq A exon
GTAATTTATTCTTTATGGCTAAGTCATAGTAAATATGAAATGATCAATTCCCGGTATATAGAAATTAATCTGAAAAATATTTTTCTTTGCATATGAAGCAATCTGAAAAAAATCTTTCTTGGAAAAAAATACTTCGTTTACTTACTTTTGAATAAGCCAGAATTTCAGTCATAAATGGATATTTATTTGTACAGTATCCCCTTATTAGCCAATATAATTTTTGTAATATGGATATGAGGTATGTGCAGCCTGTCATTTCATGATAAGTTTTATAACTTTCTTTTTAAATACAATTTTTCTTATTAG
Seq C2 exon
AAACCATCCATTATGGTCAGCAATTTGCATAAAGAATATGATGACAAGAAAGATTTTCTTCTTTCAAGAAAAGTAAAGAAAGTGGCAACTAAATACATCTCTTTCTGTGTGAAAAAAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000154265:ENST00000392676:29
Average complexity
IR
Mappability confidence:
NA
Protein Impact
ORF disruption upon sequence inclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.372 A=NA C2=0.000
Domain overlap (PFAM):
C1:
NO
A:
NA
C2:
PF0000522=ABC_tran=PU(6.8=25.0)
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:
TCAACGAAGTCTAAAAATAGGAAGCT
R:
ACACAGAAAGAGATGTATTTAGTTGC
Band lengths:
230-536
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