HsaINT0000831 @ hg19
Intron Retention
Gene
ENSG00000141338 | ABCA8
Description
ATP-binding cassette, sub-family A (ABC1), member 8 [Source:HGNC Symbol;Acc:38]
Coordinates
chr17:66915442-66917633:-
Coord C1 exon
chr17:66917523-66917633
Coord A exon
chr17:66915618-66917522
Coord C2 exon
chr17:66915442-66915617
Length
1905 bp
Sequences
Splice sites
5' ss Seq
AAGGTACAA
5' ss Score
6.82
3' ss Seq
TAACTTTTCCTTTGTTACAGGTT
3' ss Score
10.82
Exon sequences
Seq C1 exon
ATCTGGTATTTGACATTTACGAAGGCCAAATCACTGCAATACTTGGTCACAGTGGAGCTGGAAAGTCAACACTGCTAAACATTCTTAGTGGGTTGTCTGTTCCCACCAAAG
Seq A exon
GTACAAACTAGTTTGTTTTCTTTTTTTTTAAATTATACTTTAAGTTTTAGGGTACATGTGCACAACGTGCAGGTTAGTTACATATGTATACATGTGCCATGTTGGTGTGCTGCACCCATTAACGCGTCATTTAACATTAGATATATCTCCTAATGCTATCCCTCCCCACTCCCCCCACCCCACAACAGGCCCTGGTGTGTGATGTTCCCCTTCCTGTGTCCAAGTGTTCTCATTGTTCAATTCCCACCTATGAGTGAGAACATGCGGCGTTTGGTTTTTTGTCCTTGCAATAGTTTGCTGAAAATGATGGTTTCCAGCTTCATCCATGTCCCTACAAAGGACACGAACTCATCATTTTTTATGGCTGCATAGTATTCCATGGTGTATATGTGCCACATTTTCTTAATCCAGTCTATCATTGAGGGACATTTGGCTTGGTTCCAAGTCTTTGCTACTGTGAATAGTGCCACAATAAACATACGTGTGCATGTGTCTTTATAGCAGCATGATTTATAGTCCTTTGGGTATATACCCAGTAATGGGATGGCTGGGTCAAATGGTATTTCTAGTTCTAGATCCCTGAGGAATCGCCACACTGACTTCCACAATGGTTGAACTCGTTTACAGTCCCACCAACAGTGTAAAAGTGTTCCTATTTCTCCACATCCTCTCCAGCACCTGTGGTAAAAACTAGTTTATTTTCAAAGTCAATTGACAAATAAATCAGCTGTTAATATGAAATTCTTTCAAGTGTTAATCACAAACACACATACCTAGGGAAAAATGGAATTTTATTTAATAGTAATATTCTGTGGAAGTATGTAATATTTAATTGGTATACTGCATATGGAATCTGAGTATTTCATAATAACTATTTTCATGCTCATTAGTTGCTATTTGGCATTCCAGCTTCTATCTGTCAACTCTTTTTTTTTTTGTTAAGCAATAAGGTATTTATTTTTTTATTTTTTAAAATTTTTATTTTAGGTTTGGGGGTGCATGTAAAGCTTTGTTACATAGATAAACACGTCATGGGGGTTTGTTGCCTATATTATTACATGACCCAGGTATTAAGCCCAGTACCCAATAGTTATCTTTTCTGCTCCTCTCCCTCCTGCAACCCTCCCCCATCAAGTAGACCCCAGTGTCTGTGATTTGCCTTTTTGTGTTCATAAGTTCTTATCATTTAGCTCCCTCTTATAAGTGAGAACATATGGTATTTCATTTTCTGTTCCTGCATTAGTTTACTAAAGATGATAGCCTCTAGCTCCACCCATGTTCCCACAAAAGATATGATCTCATTCTTTTTTATAGCTGCATAATATTCCACGGAGTGTATGTACCCCCATTTTCTTTATCTAGTCTGTCTTTGATAGGCATTTAAATTGATTTCATGTCTTATTGCTCCTCATGATTCTGTGGGTTGACTGGGCAGTTTTTCTATTCTGGACCAAAGTGACAGGGGCTGGATGATTTAACATGGCCTCACTCACATATCTGGGGCTTCAGTTAGGACAGCTGCGTGTCTTTTCCCACATGGAAATATATCTTTCAGAAGGCCTGCTGGGATTCTTCACCCAATGATCCCCATGATCCCAGCAGCAAGCAAAGACAAATCACTAGGTGGAAGCTCTTCATCAGACTCTGCTTGTATCACATTTGCTAGGATACTACAGGGTATATAGGCAAAGCTAAATGTGAGGGGCAGACAAAGGGACTACACCTTGATGGGAAAAGCTGCAGATGAGAACATATTTTGAATATACTATGCAACTAAAGTAGAAGTTTCTAATGCCTGAATTGTATAAACTGTCAAGATAAAGTCATACGTACATTTAATTAACAGCGATTTTATTAAGAAATATCTTAAGCCTTATCTTGATATTAACTTTTCCTTTGTTACAG
Seq C2 exon
GTTCAGTCACCATCTATAACAATAAGCTTTCAGAAATGGCTGACCTAGAAAATCTCAGCAAGCTGACCGGAGTTTGTCCACAATCCAATGTGCAATTTGACTTCCTCACTGTAAGAGAAAACCTCAGACTCTTTGCTAAAATAAAAGGGATTCTGCCACAAGAAGTGGATAAAGAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000141338-ABCA8:NM_007168:12
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(23.7=100)
A:
NA
C2:
PF0000522=ABC_tran=FE(37.2=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:
ATCTGGTATTTGACATTTACGAAGGC
R:
CACTTCTTGTGGCAGAATCCCT
Band lengths:
278-2183
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)