HsaINT0000864 @ hg19
Intron Retention
Gene
ENSG00000141338 | ABCA8
Description
ATP-binding cassette, sub-family A (ABC1), member 8 [Source:HGNC Symbol;Acc:38]
Coordinates
chr17:66920842-66924204:-
Coord C1 exon
chr17:66924057-66924204
Coord A exon
chr17:66921011-66924056
Coord C2 exon
chr17:66920842-66921010
Length
3046 bp
Sequences
Splice sites
5' ss Seq
CAAGTGAGT
5' ss Score
9.1
3' ss Seq
ATTGTCTTCTGGCCATGTAGATG
3' ss Score
6.5
Exon sequences
Seq C1 exon
CTTTTACACTTGGACTATGATTTGAATTCTAATGCATTTCCTCATCCATCGGACGGCTCAAATCTCATTGTAGCAACAAATTTCATGTTGGCATTTGACACTTGCCTCTATCTGGCATTGGCGATTTACTTTGAAAAAATTTTGCCAA
Seq A exon
GTGAGTAATGATATGATTAAAATCATATATCATTTAAATAGTTTTATTTCTGAAAACAAATCTCCTAATGGATATACTATTTATATTTTAAGAACTATTTTGTGTATCAACAGCAAAGAGAGGAACAAAGTCGTCGCTACTGGCCAAATTATTTCTTCATTTCTTTCTCACTACTTGACTTGTCAGAACTAAAGCCTGAATTTTGTTTATAGAATCACTAACCTTCATTTGAACTTCACTTTAAGTATATGGTATTTTTTTTTTTAGACCTCTTAGAAAGCTAGTTCCTAAACAGTTCTGGTAATCATGGTCATTTATAGCTGCTTATGTCTAACTGTTTAGCTCGATGGTTCTGAGCTCCGGCTGGACAACAGAATCATGTGAAGAATTTTAAAGCAAGTCTAAGCCCAGCTCAACCTGAAGAGATTCTGATTTAATTAATCAATGCATCTACGTTTAAAAAAAAATCTCCCCAGAAGTTCACAATAGGAAAGCCAATATATCATAAATTTTCATTTGTATCACCTTGCAACATACAAGAATATGAGTTACACAAAAGCAGGGATTCGTTTTGTTCACAGATGAGATTTAAGCACCCACTGCAGTGTCTCATGCACCCTAGATACTTGTGTGCTTCACTTTCTTTTTTTTTCTTTTTGAGACAGACTCTCACTCTGTCATCCAGGCTGGAGTGCAGTGGCACAATCTCGGCTCACTGAAACCTCTGCCTCTCCAGCTCAGGCAATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGATGTGTGCCACACGCCTGGCTAATTTTTCTGTTTTTAGTAGAGACGATGGGGTTTCACCATGTTGATCAGGCTGGTCTCGAACTCCTGATCTCAGGTAATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACAGTGCCCGGCTTGCTTCACTTTTTTCTCCCTCCTTTTATAACCAAAGGCAGGCCCTGATTCTCCCTTCTGCGTTTCCTATTCAAGACAGAATGCCAAGGGCCCTTTATTCAAAAAGCAATGAATACACACTTTTGGAAAGGGAAGAAGGGGAAAGGGTGAGCAGGAAGACAGCCACATCTTGAGGCAGGAAATTCATCCTGTTTTGTTTTTGTTTTTGTTGTTTTTAAGACAATCCTTTAAGAATTACTGTCTCTTCCTTTTAAAAGAACCCAGAACAAAAGATGTCAGGATCCACTATTGTTGGCTAGCACACTTATTACACAATTAGAATTGTTTGAATATGGTATGTTTTCATTTGATTTTTTCCAGTAGAGGTAAAAATTACATAACTGATTAGAAAAATTACTTTTTTGCCTACTAATATTTTAAGGCTTTCTACCCCTTGTTAACATTGCTTATTTAAGACACATACTTAAATATATTTTCTCTGTTCTACTTTTGTTTTTATGGCAAAATCTCACTGACTTTTTTTTGTGTTTCTATCATACTGTATATCCCTGGCATGCTGTGTATAGTTCAGGAAATTTACTCGTGTGACCCTTGTGCTTACTAATTCTTCCTTTTCTCCTTCTACTTATTAAAACATCCTGGTTGTATTATTTTTCATTTTTGTTTATTTTTCCAATGTGTTTATTCTCAGTGGATCCACAAACAGATGTCACTGTGTTTACAATTGCTTATTAGTATCCTCTTAGGTAATTGTTTTCTCTAACCAATTTAAATTTTATTTTGGTGTGCACTATGTGATATATTCCATCTTTTTTTAGTCCTTGTTTCAAACATACTCTAATGATATTACTTTAAATATTCTCTTTGTACATGTTTTATCAAGTTATATCACATATTGTTACATTTTCATGGCTGCATTTTATTTTTTACTTAACATTATGTCACAAAAATATCTTTCACATCCATGCTTTTTCCAGTTTCAAAAGCATAGTATTTTATTATTATAACTAGAAAATTTATTTCATCCAAATAAGTGAGTTGCTCCATTTTCTTCCTAATTGTCTCTGCTCACTAAGCTTGAACTTAAGACCAGAGGTGACTTTGTTCAAAACACTTCTAAAGATAATAAATAAGAATGACAGAAAAATTAACTGGATAAAATGACAGCATTATTTCATGGTAAATCTGGTGGCAGAAGGTATCCAGTTATGGTGGCATGCTTTTATTTGCTAGATTTTTCTTTTGTCAAAAGGGAGAGATAGGTGCTAACAACATACCATGTGGCAGGTATACAGAGAGTGTAAGACATTTATTGCATGAATGAAGGACTGAACATGTGAGAAATACACAGAAGTTTGAAAACCCATAACCTTACAGTGGGGATAGTTGCAGAATATTAGTGAAGTACGATTCTTCCGTTTCATAATGTTTCCTAATATGAAGAAAAACAGAAGTGATCATAGAATACTAATACAGCTGGATTCATTTCCAGCAAGATGTTTATGAGTAATATGTCTTTAAAGCAGATCATAAATTTGCTTAAGAGGAAAATTATGGTTTGGGAATGAAATAAAGCAGAAATACAAAATAGCTTTAAAAGTATTCATTTTGTGTTAAGTTTCAATTAATTATTTTATCGTGTTCTTTTTCTTTCTTACAAATGTGTCATTTACTTTTCTTAAATCCTATTCTATCTTCTTTTGGATTTTTTTTAAAGGTATCCAATAGTCATTCTCAATTTCTTCTTTCTTTGCCTATGTAATGACACCTGGTCTTCTAGACAGAATTCAGCATGCCTGCATATCTTACATTAGCAATTCAATCTGTCTTTCTTGAGGTTAAGAAATTCTAAAACATTTATTTAAATTCCTTTTGAAATATTTAAAAATCACAGTTTCATTGCTTCCGATAGGATTTATTATAGTAGAGACATCTGGTATTTTTTTTTCCTTATGAAGCTACATGTGTCAAAACGTGCATTACCTGCTGTTGACCACATGTTCAGGTTTAGCAACAAAGGGCTGTGTTGCCGTGCTACATTACTGTGACTCTCTCTCCCTAACGTGGTCATTGACCCAATATTTAATTGTCTTCTGGCCATGTAG
Seq C2 exon
ATGAATATGGACATCGACGTCCACCTTTGTTTTTCCTGAAGTCCTCATTTTGGTCTCAAACACAAAAGACTGATCACGTGGCCCTTGAAGATGAAATGGATGCCGATCCTTCATTTCATGACTCTTTTGAACAAGCGCCTCCAGAATTCCAAGGGAAAGAAGCCATCAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000141338-ABCA8:NM_007168:9
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=0.186
Domain overlap (PFAM):
C1:
PF126982=ABC2_membrane_3=PD(10.7=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:
No suggested primer sequences
R:
No suggested primer sequences
Band lengths:
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)