HsaINT0000781 @ hg19
Intron Retention
Gene
ENSG00000154262 | ABCA6
Description
ATP-binding cassette, sub-family A (ABC1), member 6 [Source:HGNC Symbol;Acc:36]
Coordinates
chr17:67119380-67121176:-
Coord C1 exon
chr17:67121029-67121176
Coord A exon
chr17:67119549-67121028
Coord C2 exon
chr17:67119380-67119548
Length
1480 bp
Sequences
Splice sites
5' ss Seq
CCTGTAAGT
5' ss Score
7.52
3' ss Seq
GTTGCCTCTTGGTTAATTAGATG
3' ss Score
4.44
Exon sequences
Seq C1 exon
ATTATCAAACTGGATTATAACTTGAATGGTGTAATTTTTCCTGACCCTTCAGGAGACTCATATACAATGATAGCAACTTTTTCTATGTTGCTTTTGGATGGTCTCATCTACTTGCTATTGGCATTATACTTTGACAAAATTTTACCCT
Seq A exon
GTAAGTAATAGTGAGTTTTTCTCTGTCCTCTACAGTTATTAATTACATTGAATATATTTTTTAAGATTATATAGACTTTTAAAATGAATATTAAATATTTCCCATTTCAAACTAATAAGTTCATTATTTCTACTTCATAGTTCTAATGGTCTAATGAAATTTTTATGTAAAAACAATTCTTCTTATGACTTTACTATAGCAATATATTATAATTATATGACAACAATAATTATAATACATCTTGTAATTGTGTGGTAATTAAATAATGTTAGGTTTTCATGGATCCCTGAAAGTGTTTTGAAAGGGTCATATTAGGATTTATGTCAAAACAAGATAAAAGAAATTAGTTCTTATGGTGGTTTGGCTCTCGGGAGGCCATTATACTGTGGAAGAGCTTTCTCATGAATATTTGTTCAGCATCATTCTCAAAATGTTTTATATATTGTTCATATTTACAGAAGTATATTGATCGCCCAGTTAAATTATCTTGCAAACAACCAAAAATGTCACGTAAGCCCAGAATTTTTTCACACATTCTAGAATCAGAAAGCTTTTTTTCTGGCACAATCTTCTTGTTTATCCTCTTATTTTATATGTTCCTTCCACTATTTAAGGTTGTCTTATAGGTTTTCTATGTATTTACTTGTATATATTCCTGTCTTTCTGTGACTTCTGGTTGATATGTGAAGGCCCTTAATAATAAATTCAACTTTGTTTTTTAAACTGGAAAAATATATTTAAAATATCACTATAAATTTATTCTAAACAAATACAGTTTCTCCATGTATTCATGCCTAAGCAGGAATATATAGATTTCAATATTATGTTCAATTATGTTGCTGTGGTCAAATTATTTAAGTTGACAAACATGTCTACAATTATTTTTATGCACTGTATTAAGGCTTTGTGTCTTCCCAAATATTTGGTTTCATTCATTCTCCTAAATACCTTTTAGATCACATTTTAAAAAAATTTAATAAATATGTTTATTGGGTGATACAAATCTGTTTTTCATGAGCCTATTAAGGATAATGCAACCCATTGTTAAGACTGGAAAAAAAGGACATATAATGGTTTCCTTGTTGGGTGTCCTTTTCTACAGATGTAGACAACAGAGGCTCTAAGATCTGTACTAATGTCTTGATCAGGGAAAAGCTGGAGTCCAACTCAGCTGGTCATACACCTAATATTTTATTCGAACCTCACTTTCCTATTGACTTTCTTTTTTTTGATCACATTCTATTTATACTTTGTTGAAAGCTGTATTATATTGTTTAATTTTGCAATATGTTATTTCCTTTGAATTCCCATTGTTTACTTCATCATCAAGTTTTCTTCTTAATAATAAATTGAGTTTTAGAAGAAAAAATGTCTCTATGATGCTTAAAACTTCAAGGCATTCTGCATTGTTGTTAGCAAGGCTTCTTTGCGCATTCTTTTACTATTACTGATCATATTTTGTTGCCTCTTGGTTAATTAG
Seq C2 exon
ATGGAGATGAGCGCCATTATTCTCCTTTATTTTTCTTGAATTCATCATCTTGTTTCCAACACCAAAGGACTAATGCTAAGGTTATTGAGAAAGAAATCGATGCTGAGCATCCCTCTGATGATTATTTTGAACCAGTAGCTCCTGAATTCCAAGGAAAAGAAGCCATCAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000154262-ABCA6:NM_080284:9
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=0.035
Domain overlap (PFAM):
C1:
PF126982=ABC2_membrane_3=PD(10.8=84.0)
A:
NA
C2:
NO
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:
AAACTGGATTATAACTTGAATGGTGT
R:
CTGATGGCTTCTTTTCCTTGGA
Band lengths:
311-1791
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)