HsaINT0000748 @ hg19
Intron Retention
Gene
ENSG00000154262 | ABCA6
Description
ATP-binding cassette, sub-family A (ABC1), member 6 [Source:HGNC Symbol;Acc:36]
Coordinates
chr17:67109759-67111078:-
Coord C1 exon
chr17:67110903-67111078
Coord A exon
chr17:67109879-67110902
Coord C2 exon
chr17:67109759-67109878
Length
1024 bp
Sequences
Splice sites
5' ss Seq
GAGGTAGGA
5' ss Score
8.24
3' ss Seq
TTGCGTATTTTCTCATATAGGTA
3' ss Score
9.48
Exon sequences
Seq C1 exon
GATCAGTTACCATCTATAATAAAAATCTCTCTGAAATGCAAGACTTGGAGGAAATCAGAAAGATAACTGGCGTCTGTCCTCAATTCAATGTTCAATTTGACATACTCACCGTGAAGGAAAACCTCAGCCTGTTTGCTAAAATAAAAGGGATTCATCTAAAGGAAGTGGAACAAGAG
Seq A exon
GTAGGAGGGCATGCTTGGATTAACTGACCTGCCAACCACTTACCAAATTAAATCATGACCACAGAATTCTCTTCAATGATTTATTTGCCCTGTTATGAATAAAATTTAGGCAAAGAGGTCCCATAACAAATATCGACTGCTTTAATGAGTGGTTAAAATTGCATAATATGAATCATTTTGGATTTTATTTTTATTTTTTATTATACTTTAAGTTAGGGTACATGTGCACAACGTGCAGGTTAGTTACATATGTATACATGTGCCATGTTGGTGTGCTGCACCCAGTAACTCGTCATTTAACATTAGGTATATCTCCTAATGCTATCCCTCTCCCCTCCCCCCACCCCACAACAGGCCCCCATGTGTGATGTTCCCCTTCCTGTGTCCATGTGTTCTCATTGTTCAATTCCCACCTATGAGTGAGAACATGCGGTGTTTGGTTTTTTGTCCTTGCGATAGTTTGCTGAGAATGATGGTTTCCAGCTTCATCCATGTCCCTACAAAGGACATGAACTCATCATTTTTTATGGGCTGCATAGTATTCCATGGTATATATGTGCCACATTTTCTTAATCCAGTCTATCATTGTTGGACATTTGGGTTGTTTTCAAGTGTTGCTATTGTGAATAGTGCCACAATAAACATACGTGTGCATGTGTCTTTATAGCAGCATGATTTATAATCCTTTGGGTATATACCCAGTAATGGGATGGCTGGGTCAAATGGTATTTCTAGTTCTAGATCCCTGAGGAGTTGCCACACTGACTTGCACAATGGTTGAACTAGTTTACAGTCCCACCAACAGTGTAAAAATGTTCCTATTTCTCCACATCCTCTCCAGCACCTGTTGTTTCCTGACTTTTTAATGATCGCCATACTAACTGGTGTGAGGTGATATCTCATTGTGGTTTTGATTTGCATTTCTCTGATGGCCAGTGATGATGAGCATTTTTTCATGTGTCTTTTGGCTGCATAAATGTCTTCTTCATTTTGGATTTTAAAAGTTGCGTATTTTCTCATATAG
Seq C2 exon
GTACAACGAATATTATTGGAATTGGACATGCAAAACATTCAAGATAACCTTGCTAAACATTTAAGTGAAGGACAGAAAAGAAAGCTGACTTTTGGGATTACCATTTTAGGAGATCCTCAA
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000154262-ABCA6:NM_080284:13
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(39.5=100)
A:
NA
C2:
PF0000522=ABC_tran=FE(26.5=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:
AATCTCTCTGAAATGCAAGACTTGGA
R:
AGGATCTCCTAAAATGGTAATCCCA
Band lengths:
270-1294
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)