HsaINT0000852 @ hg38
Intron Retention
Gene
ENSG00000141338 | ABCA8
Description
ATP binding cassette subfamily A member 8 [Source:HGNC Symbol;Acc:HGNC:38]
Coordinates
chr17:68876628-68877679:-
Coord C1 exon
chr17:68877519-68877679
Coord A exon
chr17:68876704-68877518
Coord C2 exon
chr17:68876628-68876703
Length
815 bp
Sequences
Splice sites
5' ss Seq
ACGGTACAC
5' ss Score
5.08
3' ss Seq
GACTCTCCTGTTTCCTTCAGGTT
3' ss Score
11.1
Exon sequences
Seq C1 exon
GTGCTACTGAAAGGGAGCGGTGGAGGGGATGCCCTGGAGTTCCTGGGGTACTGCCCTCAGGAGAACGCGCTGTGGCCCAACCTGACAGTGAGGCAGCACCTGGAGGTGTACGCCGCCGTGAAAGGGCTGAGGAAAGGGGATGCTGAGGTTGCCATCACACG
Seq A exon
GTACACAGAGGAGCCACATCTGTTCTATACCCAAGGGAGGGGTGGAGGAGGTTGAGAGTGATGACCCTCACAGGAAATTCAGGATGGGAGACTCTAAATGCTGACCCAGGTCACACTGGGTAGATTTACAACTAGAAACTCCTTTCCTGGATATCAAAGTATTAAGTTTCTTTCTCATATTAAATAAGAAAATTTAAAAAGGCTGGGCGCAGTGGCTCATGCCTCTAACCCCAGCACTTTGGGAGGCTGAGGCAGGTGGACTGCTTGAGCTCGTGAGTTTCAGACCAGCCTAGGCAACTTGGTGAAACCTCATCTCTAAATTAAAAAGAAAAATACAAAAATACAAAAATTAGCCGGGCATGGTGGTGCGCACCTGTGGTCCCAGCTACTTGGGAAACTGAGGTGGGAGGATGGCTTGAGCCAGGAGGCAGAGGCTGCAGTGAGCCAAGATTACACCACTGCACTCCAGCCTCGGGGATAGAGTCAGACCTTGTCTCAAAAAAATAATAATAATAAAATTTAAAATTTAAAAAGTAATTATTCATTGCTAAAATGTATAGAAAATACTAAAATTTGGACTGTCATAGAACAACTATTTGGATATCATGTCATGTCCTTCTATTTCTTCAAAAAGCAATATTATCTTTTGTAGGGGAGCAAGTCAGCCAGTAATATCACCCCTCCTTCCCTGCCCCCCGACCACATGTATTTCCAGAACTGCATTTTTGAGTTCTGCTTCTCCACCCTTGCTTGGGTTATCCTCTTATCTATTTCCTCTTGTCAAGAAGACTGTACGACTCTCCTGTTTCCTTCAG
Seq C2 exon
GTTAGTGGATGCGCTCAAGCTGCAGGACCAGCTGAAGTCTCCCGTGAAGACCTTGTCAGAGGGAATAAAGAGAAAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000141338:ENST00000269080:31
Average complexity
IR
Mappability confidence:
NA
Protein Impact
ORF disruption upon sequence inclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.019 A=NA C2=0.000
Domain overlap (PFAM):
C1:
PF0000522=ABC_tran=FE(37.6=100)
A:
NA
C2:
PF0000522=ABC_tran=FE(17.7=100)
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:
TACTGAAAGGGAGCGGTGGAG
R:
TCTCTTTATTCCCTCTGACAAGGTCT
Band lengths:
230-1045
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