HsaINT0000749 @ hg19
Intron Retention
Gene
ENSG00000154262 | ABCA6
Description
ATP-binding cassette, sub-family A (ABC1), member 6 [Source:HGNC Symbol;Acc:36]
Coordinates
chr17:67109363-67109878:-
Coord C1 exon
chr17:67109759-67109878
Coord A exon
chr17:67109502-67109758
Coord C2 exon
chr17:67109363-67109501
Length
257 bp
Sequences
Splice sites
5' ss Seq
CAAGTAAGT
5' ss Score
10.08
3' ss Seq
TATATCTTCATTCTCTGTAGATT
3' ss Score
9.65
Exon sequences
Seq C1 exon
GTACAACGAATATTATTGGAATTGGACATGCAAAACATTCAAGATAACCTTGCTAAACATTTAAGTGAAGGACAGAAAAGAAAGCTGACTTTTGGGATTACCATTTTAGGAGATCCTCAA
Seq A exon
GTAAGTGAGATTATGCATGGGGAAGGAAGCAGGTCGAATGTCTGCAAAATGTCAAGTTCTTTTACCACTAAAAGTGGTAGAGCTTTCATTGTAATGCATCAAGAGAGAACCTGCTATGTTTAACTATAAATAGAAGTATATTGGAGAAAAATGGCTGGATGGTTATTATTTTATGGTATTTATTGTTTTTCATGCTATCTTCTGGATACAGTTAATGTGAAAGAGAGACATATTTTATATATCTTCATTCTCTGTAG
Seq C2 exon
ATTTTGCTTTTAGATGAACCAACTACTGGATTGGATCCCTTTTCCAGAGATCAAGTGTGGAGCCTCCTGAGAGAGCGTAGAGCAGATCATGTGATCCTTTTCAGTACCCAGTCCATGGATGAGGCTGACATCCTGGCTG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000154262-ABCA6:NM_080284:14
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=0.000
Domain overlap (PFAM):
C1:
PF0000522=ABC_tran=FE(26.5=100)
A:
NA
C2:
PF0000522=ABC_tran=PD(5.4=17.0)
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:
CGAATATTATTGGAATTGGACATGCA
R:
AGCCAGGATGTCAGCCTCATC
Band lengths:
252-509
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
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)