HsaINT0000845 @ hg38
Intron Retention
Gene
ENSG00000141338 | ABCA8
Description
ATP binding cassette subfamily A member 8 [Source:HGNC Symbol;Acc:HGNC:38]
Coordinates
chr17:68884331-68885315:-
Coord C1 exon
chr17:68885196-68885315
Coord A exon
chr17:68884397-68885195
Coord C2 exon
chr17:68884331-68884396
Length
799 bp
Sequences
Splice sites
5' ss Seq
CATGTAAGT
5' ss Score
8.31
3' ss Seq
AATTGTCTTTTCTTTTGCAGCTT
3' ss Score
11.1
Exon sequences
Seq C1 exon
GTCACTGTATTCTCTGTGGCTGGATTTGCGTTCAGTATCTTCGAAAGTGATATTCCATTTATCTTCACTTTTTTAATACCACCTGCCACAATGATTGGCTGTTTGTTCTTATCTTCTCAT
Seq A exon
GTAAGTAATGACACAGTCTGTCCCAGTCCCTTGAAACTCATGACCAATTGTGAAGCTTTGCCCAATGTTGAAGGTCTACTACAACATGTTTAAAGTGCATGGGGTTCAAAGATTTCTGCCTGACGGAATCCAATTGATTTTCTCCCAGATAAAACAATATGTTCCAGCTGACTGGTAATGGAAAATTTGGTCCTGATTAATATATGGGAAGGAAGGGTAAGGGGTAGTGGGAAACAGAGTAGTCCTTATACTCATGTGGGGCCTTATTTCCTCCTTGATATGCTCGGCTTTAGAAGGAAGCAAATGAAATGTCCCTAATCTTTGGGATTTCAGAGTTCTAAAGAAGCACCCAAGATAAGCAAAGTCCTTTTTTCTGGCTGACTGATACCTATACCTATGCAAAAGGAAGGAAGTTACTGTACATGAGTGAAGAGGTATCTATGGGAAGGGGAAAGGAAGAGAAGGGGCCCCACAAAGAGAAACGATGGGCACAGGAAGGTATGTGAAGTTCTGTGTGAGAAGAATAAACACTGTCTCTCACTGTTTGGGGAGGTTAGCACGGATCTCCAGGATTCTCTCGCCAGGTGATTAGTAATTGATAAATCCTATTGCTTCAAACAAAAGCTCATAGACCTTGGGAGGAAGGAAGACAGCCCCTTGCTATACACTTTAGAAAGGACACTTAGGTGATATTCATGGTCAAATGTTAGCAGGGCTGTTTAGGGCCAATTCACGTATATGTGGACAAAATTCAGGAAACAAAAAACTCCCTGTTTAGCAATTGTCTTTTCTTTTGCAG
Seq C2 exon
CTTCTCTTTTCTTCTCTCTTTTCTGAAGAACGAATGGATGTACAGCCATTTCTGGTATTCCTAATT
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000141338:ENST00000269080:25
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:
PF126982=ABC2_membrane_3=FE(12.8=100)
A:
NA
C2:
PF126982=ABC2_membrane_3=FE(6.9=100)
Main Inclusion Isoform:
NA
Other Inclusion Isoforms:
NA
Associated events
Other assemblies
Conservation
Chicken
(galGal3)
No conservation detected
Zebrafish
(danRer10)
No conservation detected
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
GTCACTGTATTCTCTGTGGCTGG
R:
AGGAATACCAGAAATGGCTGTACA
Band lengths:
182-981
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Genotype-Tissue Expression Project (GTEx)
- Autistic and control brains
- Pre-implantation embryo development