HsaINT0000840 @ hg19
Intron Retention
Gene
ENSG00000141338 | ABCA8
Description
ATP-binding cassette, sub-family A (ABC1), member 8 [Source:HGNC Symbol;Acc:38]
Coordinates
chr17:66890314-66891154:-
Coord C1 exon
chr17:66891021-66891154
Coord A exon
chr17:66890452-66891020
Coord C2 exon
chr17:66890314-66890451
Length
569 bp
Sequences
Splice sites
5' ss Seq
AAGGTATGC
5' ss Score
9.55
3' ss Seq
TCCTACTTGTTATATTTTAGAAT
3' ss Score
9.34
Exon sequences
Seq C1 exon
GGGCAAGCATTGATGACTTTATACAGTCTGTGGAGCACCAGAACATAGCTTTAGAAGTGGATGCATTTGGAACTAGAAATGGCACAGATGACCCATCTTATAATGGAGCCATCACAGTGTGTTGTAATGAAAAG
Seq A exon
GTATGCAGGTCTCTAATAATCTTTCTGAAAAATGTGAAAAGCTAACATAATATCAATATACTCAGGCTTCCAACTTAAGAAATAAAAATGAAAAGCAAATACTGTTTTCATTTATTACTTAGTGAATTGTATTCACTGGCATAAACAATTCATATATCCATCATTGTCTACTGGCACAAACTATTAGCAAAATACATACTATAGAATACCTACTATCAAGACTATATATAAGTTCGAACATTTCATGTTTCCCCTCAAGGATTTTATAACACATGTATTCCAAAACTTCTGTTTTGTTCTTAAACAATAAACACTGAACATATGATTCTGGCCTCAAGCAAGACATCCGGTGTCCTAAATATCAGATACATGATTTAGTTTTACTATATACATGTTTTGATTTACTTATACAGTATTTGATTTTACTTACACAGTGTTTGGCTTTTTATTGTGATTATTTAACACCATATGAAAAACATAACCTCTTAATTTAACATGTCAAATTTTGACTTTTTTAGAGAACAAAATGAAGATATTTGAGAACTTATATCCTACTTGTTATATTTTAG
Seq C2 exon
AATTACAGCTTTTCGTTAGCATGCAATGCCAAAAGATTGAATTGCTTCCCAGTTCTTATGGACATTGTTAGTAATGGGCTACTTGGAATGGTTAAACCATCAGTACATATCCGAACTGAAAGAAGTACATTTTTGGAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000141338-ABCA8:NM_007168:20
Average complexity
IR-S
Mappability confidence:
NA
Protein Impact
ORF disruption upon sequence inclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.000 A=NA C2=0.005
Domain overlap (PFAM):
C1:
PF126982=ABC2_membrane_3=FE(14.5=100)
A:
NA
C2:
PF126982=ABC2_membrane_3=FE(14.8=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:
GGGCAAGCATTGATGACTTTAT
R:
CCAAAAATGTACTTCTTTCAGTTCGG
Band lengths:
270-839
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
Other AS DBs:
FasterDB (Includes CLIP-seq data)
AS-ALPS (AS-induced ALteration of Protein Structure, links to PINs)
APPRIS (Selection of principal isoform)
DEU primates (Only for human)