HsaINT0000694 @ hg38
Intron Retention
Gene
ENSG00000198691 | ABCA4
Description
ATP binding cassette subfamily A member 4 [Source:HGNC Symbol;Acc:HGNC:34]
Coordinates
chr1:94008235-94008871:-
Coord C1 exon
chr1:94008751-94008871
Coord A exon
chr1:94008298-94008750
Coord C2 exon
chr1:94008235-94008297
Length
453 bp
Sequences
Splice sites
5' ss Seq
AAGGTAAGG
5' ss Score
10.51
3' ss Seq
GGTTTCTTCGTATCTTGCAGATT
3' ss Score
10.24
Exon sequences
Seq C1 exon
GATTGCCGAGCCCACTAAGGAGCCCATTGTTGATGAAGATGATGATGTGGCTGAAGAAAGACAAAGAATTATTACTGGTGGAAATAAAACTGACATCTTAAGGCTACATGAACTAACCAAG
Seq A exon
GTAAGGGAATGGGTATGAGTTTGGAGGTGCTGGTTAGATCCACAGTTGGCATGATGTTGCCATTTTCCTTCTATAGAACAATTGATATGCTTATGCAAGCAATTTGGTTCCCAGTTTTATGTAGGGTCATCATCCCTGTGTTATAACTCGTCTTCCAAGAGCATCTAATTCCAATGTGTGTTCCCTGCTATTCATCTCGGGCACTGACACAGGGCCTCAGTGAGAATCACTCCAGCTGAGCATCATTCCCTTTTCTGTGTTCTGTTTCTGCAGAGCATGGGTCAGCCTCGAGATGTCTCAGTACTCACCACACCTCTGTGCCTGCCCATGTCAATATGTAACCTCCTAGTGCTGGTAGTTTTCTCCTAAACCATCCTTTGCTCTTTGTTCCCTCTTCCCCTCCTTGCTCTCACCCTGTCTCAGTTCTCAGTCCGGTTTCTTCGTATCTTGCAG
Seq C2 exon
ATTTATCCAGGCACCTCCAGCCCAGCAGTGGACAGGCTGTGTGTCGGAGTTCGCCCTGGAGAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000198691:ENST00000370225:41
Average complexity
IR
Mappability confidence:
NA
Protein Impact
ORF disruption upon sequence inclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.098 A=NA C2=0.000
Domain overlap (PFAM):
C1:
NO
A:
NA
C2:
PF0000522=ABC_tran=PU(7.6=52.4)
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:
GATTGCCGAGCCCACTAAGG
R:
CTCCAGGGCGAACTCCGA
Band lengths:
182-635
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