HsaINT0000849 @ hg38
Intron Retention
Gene
ENSG00000141338 | ABCA8
Description
ATP binding cassette subfamily A member 8 [Source:HGNC Symbol;Acc:HGNC:38]
Coordinates
chr17:68881120-68881980:-
Coord C1 exon
chr17:68881863-68881980
Coord A exon
chr17:68881212-68881862
Coord C2 exon
chr17:68881120-68881211
Length
651 bp
Sequences
Splice sites
5' ss Seq
AAGGTTGGC
5' ss Score
6.1
3' ss Seq
AAGTGTAACCTTTTTTTCAGGTG
3' ss Score
7.12
Exon sequences
Seq C1 exon
AAGCCAGTCATCATTGCCAGCTGTCTACGCAAGGAGTATGCAGGGAAGAGGAAAGGCTGTTTTTCCAAGAGGAAGAATAAGATAGCCACGAGAAATGTCTCCTTCTGTGTTAGAAAAG
Seq A exon
GTTGGCCATAGGGATCTTCCACTTCTGGCTCAGAGCCCTCCTCAGAGGTTCCTGGTTCCTAATGAGCATTATTCTGGAAACCACCTCTTGGTTCACATGCAGACCCAGAGGAGAATGACAATGACAGCTTCCTTTGTATGTTTCATTTCTAACTTAAATTAACTCACCTCACAAAGAGGAGCCTAGTCACATCTACAACTAAACCATAAGCTCTCTAATAAGATGAACTTTTGAAGTAATAACATTTCTATTAAATGAACACAATTGATTTCCTAAAGTTCATTGTTTTTCACAAGAGAACCAAGATGTGCTAGCACACTCTGAAGGCTTGGCCAGCAAGTGTTAGATGACCTCAGTTTGTGCCATTATTGCACCAAGGTTAGGATCACAGGAGACAGAATCTGAAACACTTGGCTTCCAAGAGTGGTTTTGCCACTTTCCATCAGTGTGACTTTGCACAGGTAACCCCATCATTGAGAGCTTCTGCCCCAACTACATAAGAAGGGGCTAAAATAACAACTTCTCAGGGTGGTTGTGACAATTAAATGACAACTAATAGCAAATGCTTGTCACATAGTGAGATTTCAACTATGTTTTACTCTTAATGTTACCATTAAAATAGATTAATATTAAGTGTAACCTTTTTTTCAG
Seq C2 exon
GTGAAGTTTTAGGATTATTAGGACACAATGGAGCTGGTAAAAGCACATCCATTAAGGTGATAACTGGAGACACAAAACCAACTGCTGGACAA
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000141338:ENST00000269080:29
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=0.151
Domain overlap (PFAM):
C1:
PF0000522=ABC_tran=PU(7.1=25.0)
A:
NA
C2:
PF0000522=ABC_tran=FE(21.3=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:
AAGCCAGTCATCATTGCCAGC
R:
CCAGCAGTTGGTTTTGTGTCT
Band lengths:
206-857
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