HsaINT0000747 @ hg19
Intron Retention
Gene
ENSG00000154262 | ABCA6
Description
ATP-binding cassette, sub-family A (ABC1), member 6 [Source:HGNC Symbol;Acc:36]
Coordinates
chr17:67110903-67111627:-
Coord C1 exon
chr17:67111517-67111627
Coord A exon
chr17:67111079-67111516
Coord C2 exon
chr17:67110903-67111078
Length
438 bp
Sequences
Splice sites
5' ss Seq
AAGGTGAGT
5' ss Score
10.47
3' ss Seq
TTTTTAACTTCTATTCTTAGGAT
3' ss Score
9.65
Exon sequences
Seq C1 exon
GCTTGCTCTTTGACATATATGAAGGTCAAATCACGGCAATCCTGGGTCACAGTGGAGCTGGCAAATCTTCACTGCTAAATATTCTTAATGGATTGTCTGTTCCAACAGAAG
Seq A exon
GTGAGTAAAAAGAAATTTCTCAAAGGCAAGATGTCTTATAATAGAATGAGGTCAAGCATATGCCTCTCATTTTAAATTTTAAATTTGATGGCTTAAGAGAAATAATGTTTATCTAAAGTTGTTTCCAAGAGCTACATAATTTTGAATATACTTCATATTTCTGCAATTTTATAAAAATTATTATCTTTATTCCATTGTGTGATATTTCAGGGTAGATGTGCAGTTCTATAAGCATATGTTTGTAACAAGAATAATTAGTAGTTCACAAATTGTGTTCACATATATGCAGTTCTATAAGCATATATTTATGTCAAGAATAGTAGTTCACAAATCATTTTAGACATTTGTGAACATATGCCAATATTTTCTTAAATGAGATCTATGAATATTAATAGAATGTATTATCTTGCCAATTTTATTTTTAACTTCTATTCTTAG
Seq C2 exon
GATCAGTTACCATCTATAATAAAAATCTCTCTGAAATGCAAGACTTGGAGGAAATCAGAAAGATAACTGGCGTCTGTCCTCAATTCAATGTTCAATTTGACATACTCACCGTGAAGGAAAACCTCAGCCTGTTTGCTAAAATAAAAGGGATTCATCTAAAGGAAGTGGAACAAGAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000154262-ABCA6:NM_080284:12
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(25.2=100)
A:
NA
C2:
PF0000522=ABC_tran=FE(39.5=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:
GCTTGCTCTTTGACATATATGAAGGT
R:
TCTTGTTCCACTTCCTTTAGATGA
Band lengths:
286-724
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)