HsaINT0000579 @ hg19
Intron Retention
Gene
ENSG00000107331 | ABCA2
Description
ATP-binding cassette, sub-family A (ABC1), member 2 [Source:HGNC Symbol;Acc:32]
Coordinates
chr9:139918595-139922740:-
Coord C1 exon
chr9:139922527-139922740
Coord A exon
chr9:139918689-139922526
Coord C2 exon
chr9:139918595-139918688
Length
3838 bp
Sequences
Splice sites
5' ss Seq
CCGGTGAGC
5' ss Score
8.69
3' ss Seq
ACTGGGCCCACCCTTTCCAGTGG
3' ss Score
6.9
Exon sequences
Seq C1 exon
GGGGCGGAGCCAGCGCGGATCGGGTCCCGGACGCCCGAGCGCCCCGCCCCCGCGCGGGCGATGCCCAGCGGCGCGGCGGGCTGCGGGGCCCGGCGGGGCGCGCAGAGGAGCGGGCCGCGGCGCTGAGGCGGCGGAGCGTGGCCCCGCCATGGGCTTCCTGCACCAGCTGCAGCTGCTGCTCTGGAAGAACGTGACGCTCAAACGCCGGAGCCCG
Seq A exon
GTGAGCCCACCCCACGCGCCCGCCCTCAGCCCGAGGCCGCGCGCACCGCGGCCAGAGGCGCGCTCCCCGCGCGCACGTGCGGACGGCCGGGCGCGCGCAGACCCCGGCGGGCGCTGGGGGCGGCGCGGGCCCGAGCCCCCTCCCCGCCGGGCCCTGCCCTCGCCTGCCGGCGCTGCGGCCTCCGGGGAGGTGGCTCGGTCGTGTCCAGTCCGGTCCCGCGTCCGCTGACATCGCGGTGCTCGGCTGAGTCACGGCACCCGCGCCCTCTGCAGCGCGCTCGCTGGGGCCGCTGTGGGCGGGGGGCAAGCGGCGCTCAGGACTCTGGCTCGAGGGAGGCCCTGGTTCCCAGGACAGAAGGCAGGCCTGGGGGGCTCCATTCAGCTGCGAGGCTCCATGGTCCTTGGGCCCAGCCTCCCTGGGGTCCCGGAGGAGACCCTGTCCCTTCCCTCCGTCCACCCCTCCCCTGCCCTTGGGCCGCGGCCTGCCATAGAGGTTGGTCCCAGGCATCTCTCCGCCTCCCCTCCTGGCACATCCGTGACCCTTGCTCATGCTCTCGCCACTGGGAATGTCCTTGTGCCAGCCTTGGCCAGCCTGAATCTCTGCACCCATTTGTCCTTTGGGGTCAGTTCTCCCCGAGCCTGATCCACTCTGTTGCCTCCTGGTCCCCCCACCTGCTCTGGGGGCTGGGTCTACTGTTTGGAGCTGTGAACCCCGGCTTTCCCAGCACTGCCTGGGCAGCCAGTGGACCTGAGGGTGCAGGACACATGGCTGTCAGGGACAGAAGTCCTTCGTGGAGCGAGGGGCTTGGGGATATGGGTGTCCTGCCATACCCCCAGCTGGCCAGCTTGGCTCCAGCCTGGGAAGGGAAGGGACACCTCCCAGGCCACAGGCCTGGACCAGCTTAGGTTTCTGAAGGCCCTTGGGATTGTCCAGGCCAGGGCTCAGAGCAGGTGGGGGCCTAAGGCAGACATCCTCTTGCCCAGCCAGGGCCCGGGCGGGACCCCTTGGGCTGCACCAGTCCGTGCCTGTTTATCTTTCAACATGCACTGCAGGAAACCCAGGCTGCAGTCAGCTGGGGTGGCCATCATCACCATGGCTGGCAGAATTCCCCTGGGCACCTGGCCTTGGCGGGGAGCCTGGGTTAGGTACATGCCCTGGCCAGGCACCTGGAGCTGGCTGAGTGGGGTCCCATGGATCAGGCCTGCAGCCCCTGGCATTGAGTCACTGGGGACAGCAGAGCAGGGCCAAGGGAACAGGGATGTGGCATGTGGCATGCATTAGTATTAGTCCCCGGGGGTGGTTGTCAGGAAGGTCCCCACTGGGCTTGGGAGCAGAGGCTGGAATGGTGGCCCCTGTTCCAGTGGGGACAATGCTCAGGGAAGGGAGTGTGGCCTATGAGGGCAGCTGGCAAGCAGGTGGGAGGTGTGCACTGTCCTGACCGCAAGAGTGACTCCCAGCTGCTGGTTTGGGCTGCCCCCCAGGACCTTTTTGGGTCCCCACCCTACAGGGCTCCCAGAGGCCCACTGGGCCACAGTGGAGGTCCTTAGCCCATGGCTGGAGCAGGTGGGGAACTGTTTCCCCCAGGGAGGCTGAGTCCTTGCCAGGCTTGTGATGTGGGGCTGGGGCTGGCTGGACACTGGGCACACTCCTGCTGGGTCCCCACTTTCCTGGGAAGGATCTTGGACATCAGAGCTGGACTCTTGGGGCCAAGCTTGGATGACAGAGGTTTGCCCTGTGTGCCATGCGCCCTGCTGGGGCAGGGGTGCACCCTGGGCAGAGCTCCACCCTGGGCAGAGCTCAGGGTCTGGAGGGTGGGTGCCAAGGACCTCTGTGCTGCTAGCAGGCTCCTCCAAGCTCTTTGCCTCAGTTTCCCTGTCTGTGAGTGTGGCCTATCTCCTCTTAGTTAGCTGGACTTGGGTCTACCCTTGGGCTACAGGCTGCTCTTGGTGCAGGGACAGGGTCACTGTCATGAAGTCACTGGGATGGCAGATGGCAGCGCCACCCTCGGGTCTCACCTGTTCTCCCCCCGACACAGTAGGCGGGAGCTACAGGGAGGGGTCATGCCCAGAGAAGGCATCTAGGCCTCCAGGCGATGTGAAGGCACTGGGCTGGTCTCGAGGGACGGAGGTTGGGCCACCTGGAGGCACCTGTGTGGGGCACCCAGGGCGTGCTAGACCTGTGCTGCCGCCTGTAACCAGATGCTGCTGTGGCGCCCGCCGCCTGCCAGCCAGGACTCTCCTCCTCCTCCCAGTAGCTCGTGCGAGGCCGTTGCTATAGCAATGGGGGAGGCAGCCGGGCCTGTTGCTGCAGTTACAGTGCCCATAGCAGGCCGGGTGTGGGCGGGGCTGGCGCCCCGTGCTGTGACCCCTGCCTCTGACATTGCCTCACTCCTGCAGCCACCCTCGCCCTGGTGCCTGTTGGTGCCCACAGTGCCTTGGCGAACCCTGGGCTCCGTCCTGGCTCAGGGAGCGGGTGGAGGCTGGCACGGGCTGGGGCGGGCATGGGACACCCACAGCATGATGTTCCTGGCCACAAAGCCCTATTGTCCAAGCACAGTAAACACAGCAGCCGCCCCCACCCCAGGGACCGGGGACTCGGCCCGGGCCACACAGCACACTGGGGGCTCTGAAGGGTTTTGGGATGGGGATGAGGACAAAGGATGCCTCCGAGCTGGGTGCTCGCCCTCGGGCTAGGGAGGGCAGGGCCCCTCTGTCCTGTGGGTCTCAGAGAGGGCTGGTCTGCCGAGGGCTCTCTGGAGGGTAGCTGGCTCAAGCTCCTCCTCCTCCCTGAGCTGGGGGCTGGGACACAAGAACCGGTAAAGTCCTTGGTTTTCAGGTGAAGTGAGCAAAGCACCTCTTTCTCACTCCACGCAGGTCCCACTAGGGCTCACCTTGGTGCCCAGCCTGGGTTAGCAGGAGCCGACCTGGGGAAACTGAGCTCCAAGGCCCAAGACTGGCTGCCCCGGGTCAGGAGAGGGGACAGGGCAGAAAGAGGTGCCTTTGGGCCAGGTGTGGTGGCTCACGCCCAGGTGGGCGGATCACGAGGTCAGGAGATCGACACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCTGGGCATGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGAGAGGCTGAGGCAAGAGAATGGTGTGAACTTGGGGGACGGAGCTTGCAGTGAGCTGAGATCGCACCACTGTGCTCCAGCCTGGGTGACAGAGTGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAGGTGCCTTTGCTTCAGGGACTGGGGCTGTTAGACCCCTTACCAGGTCTTCTCCGAGGCTCAGGGCCCTGGGCGCAGGCCAAGCCTCTCAACCAGGCCTCCTCATCTCCCCAGGCCCCGGTATTGGTGGGGAGGAAGTGGGAGGAAGGTGAACCCGGGGCAGTGTGGGAAGTGTAGGCGGGGCTAGTGGCTCAGATGGTCCCCAAGATTTTGCCCAGGTAGCCCTGGAGGTGGGGAGGGAGAAGATGAGCTGGGATATACATGGGTCAGAGTAGACCACAAGCTGGCCGATTTGTCCCTGTAGGCCCTGAGGCTCCTCAGAGGGCACGTAGGCCCAGTGTGGGCTGGGGACGGGAAACCTGATTTGCTGAGCCAGACAATCCTTACCCTCAGTGCCCTGGAAGGGGCTCAGACCTTCAGTGGTTCCGAAGGGCCTGTGCCCACCTTCCCTGGCCCCAGGGAGCACGTGGTCCTGTCTGGGCTGGGCCAGCCCTATGGGAGGCTGGGGAGGGCCTAGGCGAGCACAGGTCTGTCCTATCCCTCACTGGGCCCACCCTTTCCAG
Seq C2 exon
TGGGTCCTGGCCTTCGAGATCTTCATCCCCCTGGTGCTGTTCTTTATCCTGCTGGGGCTGCGACAGAAGAAGCCCACCATCTCCGTGAAGGAAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000107331-ABCA2:NM_001606:1
Average complexity
IR-C
Mappability confidence:
NA
Protein Impact
ORF disruption upon sequence inclusion (1st CDS intron)
No structure available
Features
Disorder rate (Iupred):
C1=0.000 A=NA C2=0.000
Domain overlap (PFAM):
C1:
NO
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)