HsaINT0000679 @ hg38
Intron Retention
Gene
ENSG00000198691 | ABCA4
Description
ATP binding cassette subfamily A member 4 [Source:HGNC Symbol;Acc:HGNC:34]
Coordinates
chr1:94030428-94031120:-
Coord C1 exon
chr1:94030996-94031120
Coord A exon
chr1:94030527-94030995
Coord C2 exon
chr1:94030428-94030526
Length
469 bp
Sequences
Splice sites
5' ss Seq
CAGGTGCGC
5' ss Score
9.1
3' ss Seq
ACATGTCTCACTCTGTCTAGCAT
3' ss Score
6.29
Exon sequences
Seq C1 exon
ATCGTGCTCCCGGCTACCTTTGTGTTTTTGGCTCTGATGCTTTCTATTGTTATCCCTCCTTTTGGCGAATACCCCGCTTTGACCCTTCACCCCTGGATATATGGGCAGCAGTACACCTTCTTCAG
Seq A exon
GTGCGCGGACTCGGGGTCACCATTCTCCTCTGTGGGTTTGGGGCACCTGGGTCACATGCTGCTTAGAAGGGCCCTGACCTTCCCACTTCACTGGGACCTTCACCAATGAGAGAGGGGAGGGGTCTTTGGGCTGCCTGCAGAAAGGAACTTAATGTATCTGCCACTGCTTGGAAAGGCGATCCTAGTGGACAGGCAGGACTGCTTGGGAAGGCCGAATGGGGAAAGGAATGCAAAGCTTAGGTGAATGGGTTGAAGCGCCATCTTTTTGAGGCATAGGTGACATGCCATCAGACCACTGCGAGTGTTCAGGCAGCCTACCGCACTCCCAGGAGAGCTAGCGCCATCCCAAGGCAGCATTCGGTGCCTCCAATACATACCTGGCACACAGCAGCTATCCAGTAAAGGCTCTGAGTTGCATGATGTTGGCACGCGCCTGCTCTGTCCCAGTCACATGTCTCACTCTGTCTAG
Seq C2 exon
CATGGATGAACCAGGCAGTGAGCAGTTCACGGTACTTGCAGACGTCCTCCTGAATAAGCCAGGCTTTGGCAACCGCTGCCTGAAGGAAGGGTGGCTTCC
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000198691:ENST00000370225:28
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:
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:
ATCGTGCTCCCGGCTACC
R:
GAAGCCACCCTTCCTTCAGG
Band lengths:
223-692
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