HsaINT0000371 @ hg19
Intron Retention
Gene
ENSG00000165029 | ABCA1
Description
ATP-binding cassette, sub-family A (ABC1), member 1 [Source:HGNC Symbol;Acc:29]
Coordinates
chr9:107586746-107588168:-
Coord C1 exon
chr9:107587964-107588168
Coord A exon
chr9:107586860-107587963
Coord C2 exon
chr9:107586746-107586859
Length
1104 bp
Sequences
Splice sites
5' ss Seq
CAGGTACAC
5' ss Score
7.29
3' ss Seq
TACCTGTGCTTTGCTTTCAGGCC
3' ss Score
10
Exon sequences
Seq C1 exon
AGCCTGCTGTCTCCTGTGGCTTTTGGGTTTGGCTGTGAGTACTTTGCCCTTTTTGAGGAGCAGGGCATTGGAGTGCAGTGGGACAACCTGTTTGAGAGTCCTGTGGAGGAAGATGGCTTCAATCTCACCACTTCGGTCTCCATGATGCTGTTTGACACCTTCCTCTATGGGGTGATGACCTGGTACATTGAGGCTGTCTTTCCAG
Seq A exon
GTACACTGCTTTGGGCATCTGTTTGGAAAATATGACTTCTAGCTGATGTCCTTTCTTTGTGCTAGAATCTCTGCAGTGCATGGGCTTCCCTGGGAAGTGGTTTGGGCTATAGATCTATAGTAAACAGATAGTCCAAGGACAGGCAGCTGATGCTGAAAGTACAATTGTCACTACTTGTACAGCACTTGTTTCTTGAAAACTGTGTGCCAGGCAGCATGCAAAATGTTTTATACACATTGCTTCATTTAATTCTCACAAGGCTACTCTGAAGTAGTTACTATAATAACCAGCAATTTTCAAATGAGAGAACTGTGACTCAAAGACGTTAAGTAACCAGCTTTGGTCACACAACTGTTAAATGTTGGTACGTGGAGGTGAATCCACTTCGGTTACACTGGGTCAATAAGCCCAGGCGAATCCTCCCAATGCTCACCCAATTCTGTATTTCTGTGTCCTCAGAGGGGGTACAACTAGGAGAGGTTCTGTTTCCTGAGTACAGGTTGTTAATAATTAAATATACTAGCTCTAAGGCCTGCCTGTGATTTAATTAGCATTCAATAAAAATTCATGTTGAATTTTTCTTTAGTACTTCTTTCTTAATATAATACATCTTCTTGACCAAGTCCAAGAGGAACCTGCGTTGGACAGTTTTCATATGAGATCAAATTCTGAGAGAGCAAGATTTAACCCTTTTTGGTTCACCTTCTGATCCTCCCCTAAGGAGGTATACATGAAATATTTATTACTCCTGCCTGAACTTCTTTCATTGAATATGCAATTTTGCAGCATGCAGATTCTGGATTTAAATTCTGAGTCTTAACTTACTGGCTGAGGGACCTTGGATAGGCTCCTTATCCCTCAGTTTCCTCATCTCTAAAATGGGGATGGCACCTGCCCCGTGGGTTGTTGGAAGGACTTACAGAGGTGCAGAATGTACGTTGTACATAGCAGGTTTCAGCAAATGTTAGCTCCCTCTTTCCCCACATCCATTCAAATCTGTTCCTTCTCCAAAGGATGTGTCAAGGAGGAAATGGACCTGGCTGGGAAACCCTCAGAATACTGGGATGATGCTGAGCTTGGCTCATACCTGTGCTTTGCTTTCAG
Seq C2 exon
GCCAGTACGGAATTCCCAGGCCCTGGTATTTTCCTTGCACCAAGTCCTACTGGTTTGGCGAGGAAAGTGATGAGAAGAGCCACCCTGGTTCCAACCAGAAGAGAATATCAGAAA
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000165029-ABCA1:NM_005502:17
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=0.256
Domain overlap (PFAM):
C1:
PF126982=ABC2_membrane_3=PD(24.6=88.4)
A:
NA
C2:
NO
Main Inclusion Isoform:
NA
Other Inclusion Isoforms:
NA
Other Skipping Isoforms:
Associated events
Conservation
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
AGCCTGCTGTCTCCTGTGG
R:
TTCTGATATTCTCTTCTGGTTGGA
Band lengths:
318-1422
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Genotype-Tissue Expression Project (GTEx)
- 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)