HsaINT0000837 @ hg38
Intron Retention
Gene
ENSG00000141338 | ABCA8
Description
ATP binding cassette subfamily A member 8 [Source:HGNC Symbol;Acc:HGNC:38]
Coordinates
chr17:68902713-68903499:-
Coord C1 exon
chr17:68903301-68903499
Coord A exon
chr17:68902880-68903300
Coord C2 exon
chr17:68902713-68902879
Length
421 bp
Sequences
Splice sites
5' ss Seq
ACTGTAAGT
5' ss Score
8.59
3' ss Seq
GGCAATTTTCTTTTGTGTAGGCT
3' ss Score
6.05
Exon sequences
Seq C1 exon
ACATTGCTATTTTGGGAGAAGTACAAGCGGAAAAAGCTGACGACACTGAAAGGCTTGTTGAGATGGAACAAGTCCTCTCTTCACTTAACAAGATGAGAAAGACAATAGGTGGTGTGGCTCTCTGGCGACAGCAAATCTGCGCAATTGCAAGGGTTCGCTTGTTAAAGTTAAAGCATGAAAGAAAAGCTCTTTTAGCACT
Seq A exon
GTAAGTATCAGAGTTGCCATAGGTTTTCTTTTTAAGTCAATGCGTTAAAAAGCAAATCTAAGGTATAAAGGCAAGCAAAAAAACACAAAGATATGATGAATTAGGCAGCAGAAAGGGAAAGCATCACAGTGGAAGAAGCACAGGAGAGAGGCAGAATCTTGACATCCAAAGGACAAATATTGCATGAAATTTTATGGGATATCCAATGGCCAAAAAGCAACAGGAGAAATGAACAAAGGACAAATCTACGGTTTAACATCTTGAATTTGGAGTTAGTAAAAGGACAAAATACTCAAGAAATGTGACAGTTAATTGTGTTTAATTTTTATAATTTCTTTATCCCATTACATTATAAACTGCTCAGAGAGTATTAGATCAGGAAATGACATTGCATTCATTTTGGCAATTTTCTTTTGTGTAG
Seq C2 exon
GCTATTAATTCTAATGGCTGGATTTTGCCCTCTTCTTGTGGAGTATACCATGGTGAAAATATATCAAAACAGTTACACCTGGGAACTTTCTCCTCATTTGTATTTCCTTGCTCCTGGACAACAACCACATGACCCTCTCACTCAACTACTGATCATCAATAAAACAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000141338:ENST00000269080:18
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:
NO
A:
NA
C2:
PF126982=ABC2_membrane_3=PU(3.3=17.5)
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:
TTTTGGGAGAAGTACAAGCGGA
R:
TCAGTAGTTGAGTGAGAGGGTCA
Band lengths:
342-763
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