HsaINT0000854 @ hg38
Intron Retention
Gene
ENSG00000141338 | ABCA8
Description
ATP binding cassette subfamily A member 8 [Source:HGNC Symbol;Acc:HGNC:38]
Coordinates
chr17:68875614-68876554:-
Coord C1 exon
chr17:68876460-68876554
Coord A exon
chr17:68875734-68876459
Coord C2 exon
chr17:68875614-68875733
Length
726 bp
Sequences
Splice sites
5' ss Seq
GTGGTGAGG
5' ss Score
6.13
3' ss Seq
ATAATCTCTTGACATTATAGGCA
3' ss Score
6.31
Exon sequences
Seq C1 exon
CTGTGCTTTGTCCTGAGCATACTGGGGAACCCGTCAGTGGTGCTTCTGGATGAGCCGTCGACCGGGATGGACCCCGAGGGGCAGCAGCAAATGTG
Seq A exon
GTGAGGAACATTACCACGGTCAGGGACAGCACGGATGACTTGCATGGAGCCTGTGAACCATTTTTCTTCTGTAAAAATTGTCCCTTAAACTCTTTTGTGGAGAACAAAAAAACTATCAATGTCACTTGTAAAACCAATACTTTGCAAAAAAAAAAGATCTTTCCCTGATGATATTTTACAACCATTTCTTATTGAAGAAAGAATTACCATTGTTAGGGCCCATAGGTCTCACTCTTGAGTTTCATAAGCGCTCAGCTGATCTTTTAGGTGCATTTCTAGATCACAATCACGTAGTGTTCCATACTTAGCATGAGAACAGTAGTTCTCATTAAGGTGTAAACATGGTTGTCATTGTACGTGTTTACTGTACATTTTATTTTCTTCTCACTAGGTTGTGAGACGCTGTTGTTAAATTTTATGTCATTCTGTTCCCCTTCACACAGACTTCTCACAAACAAGCCTCTCTTGCTTAGCACTTCTCTTTGAACACAACCCTATAATGAATGTTGTGTTCTGTAAACGCCCCTCTTCCAATGCATGATTCCAGTTTAACAGCTCTCACCTAGCTTGTCCTTCCTCATCCTACCTGCCCTATTAAGAACCCTCTTTTACTTAATCTCTTTTTGCTAATTATTCACACGCATGCCAGTTAAAAATTCTTTTCTCTATCTCTTTCTGATTAATTAGAGGATTTCCTAAATTGCAAATAATCTCTTGACATTATAG
Seq C2 exon
GCAGGCCATCCGGGCCACCTTTAGAAACACGGAAAGGGGTGCCCTCCTAACCACCCACTACATGGCAGAGGCTGAGGCCGTGTGTGACCGAGTGGCCATCATGGTATCTGGGAGGTTGAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000141338:ENST00000269080:33
Average complexity
IR
Mappability confidence:
NA
Protein Impact
ORF disruption upon sequence inclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.219 A=NA C2=0.000
Domain overlap (PFAM):
C1:
PF0000522=ABC_tran=PD(14.2=62.5)
A:
NA
C2:
NO
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:
CTGTGCTTTGTCCTGAGCA
R:
CTCAACCTCCCAGATACCATGA
Band lengths:
215-941
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