HsaINT1000119 @ hg38
Intron Retention
Gene
ENSG00000198691 | ABCA4
Description
ATP binding cassette subfamily A member 4 [Source:HGNC Symbol;Acc:HGNC:34]
Coordinates
chr1:94007634-94008297:-
Coord C1 exon
chr1:94008235-94008297
Coord A exon
chr1:94007741-94008234
Coord C2 exon
chr1:94007634-94007740
Length
494 bp
Sequences
Splice sites
5' ss Seq
GAGGTGGGT
5' ss Score
7.07
3' ss Seq
AGCTCTGTGTTTTCTCCTAGTGC
3' ss Score
8.24
Exon sequences
Seq C1 exon
ATTTATCCAGGCACCTCCAGCCCAGCAGTGGACAGGCTGTGTGTCGGAGTTCGCCCTGGAGAG
Seq A exon
GTGGGTACTCTGCAGACCACGTGTGAAAGGCTTCCGAACATCAGCTCTTGTGCCTGCCTCTCCTCCCCATAAGGCAGAGCTATTCAATAGGAACATAATGCCATAATGCAAGTCACATATGTAATTTTAAATCTTCCACTAGCCACATGAGAAAAGTAAAAAGAAAATAGGTAAAATTAATTTCATTAGTATTTTTTATTTTACTCAATATAACCAAAATATTATTTCAAAATGTAATTAATAGAAAACCTTATTAATGAAATATTTGACAATTTCTCGTTGTTTTTAAGTCTTTGAATCTTTACACTCAGGGCCCGTGTCAACTGGGACTTAGATGTGTTTCAAGTGCTTAGTAGCCACATATGGCTCGTGGCCTCTGATGGCAGCCCAGGTCTAAAATTCCTCCCCCAGCTCACACACACACTTACCCTGGGGCCTGACATTTTAGACCTTCTTGATCTCTAGGGCCAGGCTAGCTCTGTGTTTTCTCCTAG
Seq C2 exon
TGCTTTGGCCTCCTGGGAGTGAATGGTGCCGGCAAAACAACCACATTCAAGATGCTCACTGGGGACACCACAGTGACCTCAGGGGATGCCACCGTAGCAGGCAAGAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000198691:ENST00000370225:42
Average complexity
IR
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=PU(7.6=52.4)
A:
NA
C2:
PF0000522=ABC_tran=FE(24.1=100)
Main Inclusion Isoform:
NA
Other Inclusion Isoforms:
NA
Associated events
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