HsaINT1000122 @ hg38
Intron Retention
Gene
ENSG00000198691 | ABCA4
Description
ATP binding cassette subfamily A member 4 [Source:HGNC Symbol;Acc:HGNC:34]
Coordinates
chr1:94001002-94001992:-
Coord C1 exon
chr1:94001858-94001992
Coord A exon
chr1:94001106-94001857
Coord C2 exon
chr1:94001002-94001105
Length
752 bp
Sequences
Splice sites
5' ss Seq
CTGGTAACT
5' ss Score
5.45
3' ss Seq
ACCTTCTCTCCACCCCCCAGGAT
3' ss Score
10.54
Exon sequences
Seq C1 exon
GTTGCAAACTGGAGTATTAAGAGCCTGGGCCTGACTGTCTACGCCGACTGCCTGGCTGGCACGTACAGTGGGGGCAACAAGCGGAAACTCTCCACAGCCATCGCACTCATTGGCTGCCCACCGCTGGTGCTGCTG
Seq A exon
GTAACTGCGGGCTTGGGCCGCACCAAGGGCTTAAACCAAGTGCTGGGTCTCTTGGGTTGGGGAAATAGGTTCTGGGTCGGCAGATTTAGAAACTGCAGCAGTTTGGCTTTAGTCTGGACTGTTTCCTGTGTTGCTCATTTTGAGCGATCAGCCCAGTGTTTGGTTCACACAGCTCCGGAGAAAAACAAGTCACGGCACAGCCTTGACTTGGGACTGCGCACATCCTGCGTTCCCAGGATGTCTCCTGTGGGGCCATCGGCTCACAGCCGGGAAGTTCAGCCCACTCTGCGGCCTGTCGGTGTCTGGTCCCCATACAGGAGCACTGAGCTGGGTCAAAGGCTCCTGAGCTGAGCCAGGCCAGGCCTGAGGCCATGCCCACGCAGCCCAAGGATCATGAGGGCACAGGACATAGCGGGAACCAAGGAAGTGACCTGAGTGACCTCCCTGCCTTCTGACAAATGTATTTGCAGGATTTTCTTTTTTTGAGGAGAATTCTGTCATTGCCTTAATCCACTTTAATCCCCTCGTGGGCTGAAATGGGCCCAGGATGGACGCCACGCTTCTTTACTCTTGGATCCACCTCCTGCCTTCCCTACCCTACACCAGGGTACCCCTGTCTTGCTCAAGTGAGGGGAGTGACTGTGTGCGCCTTCTGTCAGCTCATCCTCCACAGGGGAGCCAGCCCAGGGGGAAGCAGTAATCAGAAGGGCCAGCTCCCAGCCTGTGCCCCCAACCTTCTCTCCACCCCCCAG
Seq C2 exon
GATGAGCCCACCACAGGGATGGACCCCCAGGCACGCCGCATGCTGTGGAACGTCATCGTGAGCATCATCAGAGAAGGGAGGGCTGTGGTCCTCACATCCCACAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000198691:ENST00000370225:45
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=FE(30.3=100)
A:
NA
C2:
PF0000522=ABC_tran=PD(2.8=11.4)
Main Inclusion Isoform:
NA
Other Inclusion Isoforms:
NA
Associated events
Conservation
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
TTGCAAACTGGAGTATTAAGAGCCT
R:
CTGTGGGATGTGAGGACCAC
Band lengths:
238-990
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains