HsaINT0000848 @ hg19
Intron Retention
Gene
ENSG00000141338 | ABCA8
Description
ATP-binding cassette, sub-family A (ABC1), member 8 [Source:HGNC Symbol;Acc:38]
Coordinates
chr17:66878004-66878860:-
Coord C1 exon
chr17:66878740-66878860
Coord A exon
chr17:66878122-66878739
Coord C2 exon
chr17:66878004-66878121
Length
618 bp
Sequences
Splice sites
5' ss Seq
GAGGTAAAA
5' ss Score
7.3
3' ss Seq
TAACTTCTTGTCATTTACAGAAG
3' ss Score
8.62
Exon sequences
Seq C1 exon
AATTTCTCCAAGAAGTAGTGATGTGTGTCAAAATCCAGAAGAACCAGAAGGAGAGGATGAAGATGTTCAGATGGAAAGAGTGAGAACAGCAAATGCCTTGAATTCTACTAATTTTGATGAG
Seq A exon
GTAAAACATAACACAAAGGTTTTTTTATTAGTCAGTCTACCAGTCTAATTCTCTAATGATTTTGAGTTTCTCTGTTCCTTACAAATGAGGATCACTATTTTAGTAGGTAATTGCCATTTTTACGATTAAATGAGCGACTAAAAGTCATGTTAACTCTTTTGTTCTTAGAATAAATTAAAAATAGAGTGCAATAGAAATTATTAAAGCCAAGAAAGAATTTCAGAATCTGAGCTAAGCAGCAGACATCATTGCTTGTTGGAGAAAGTGCACAGTACAAATTCAGGGTCAGGTCCAGCCCACAGCATTTGTTTTGTTGTTTGAGGATAATCAGTGCTTCTCTAAGTTTCATTGCCCCCGTTTGATCTGAAAGGACAGGCAAGCTGTATAAAATACTGTGCTCCTGAAAAAACTGCCTTTGTAGGAGAGGAAAATGAGTCTCTCCTCTCCAAAAGCAAGTGTTAGGATAGGGCATGGCCAAGGAGCATGTCACCAAATAGAAGGTCTTCTTTGATGCATGGCTGGGGCAACAAAGGGTCCAGCCAATGGGAAGATGGAATTTTGTTTCAAAGCTAATGGAGAGAATTAAGGTCTGACATAATAACTTCTTGTCATTTACAG
Seq C2 exon
AAGCCAGTCATCATTGCCAGCTGTCTACGCAAGGAGTATGCAGGGAAGAGGAAAGGCTGTTTTTCCAAGAGGAAGAATAAGATAGCCACGAGAAATGTCTCCTTCTGTGTTAGAAAAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000141338-ABCA8:NM_007168:28
Average complexity
IR-S
Mappability confidence:
NA
Protein Impact
ORF disruption upon sequence inclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.439 A=NA C2=0.000
Domain overlap (PFAM):
C1:
NO
A:
NA
C2:
PF0000522=ABC_tran=PU(7.1=25.0)
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:
ATTTCTCCAAGAAGTAGTGATGTGTG
R:
CTTTTCTAACACAGAAGGAGACATT
Band lengths:
238-856
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)