HsaINT0000691 @ hg38
Intron Retention
Gene
ENSG00000198691 | ABCA4
Description
ATP binding cassette subfamily A member 4 [Source:HGNC Symbol;Acc:HGNC:34]
Coordinates
chr1:94010800-94011385:-
Coord C1 exon
chr1:94011262-94011385
Coord A exon
chr1:94010930-94011261
Coord C2 exon
chr1:94010800-94010929
Length
332 bp
Sequences
Splice sites
5' ss Seq
TTGGTGGGT
5' ss Score
4.3
3' ss Seq
CAATTCCTGTTGATGCCCAGGTG
3' ss Score
4.2
Exon sequences
Seq C1 exon
ACGCTGCTCAGGTTCAACGCCGTGCTGAGGAAGCTGCTCATTGTCTTCCCCCACTTCTGCCTGGGCCGGGGCCTCATTGACCTTGCACTGAGCCAGGCTGTGACAGATGTCTATGCCCGGTTTG
Seq A exon
GTGGGTGGTAGCCGAGGCCCATGGAGCATGGGCCCTGGGTCCAAAGCTGGGAGGGTTACCGGGGGGGCTCCTGCATCAGACTGTGGCAGGGGCTGGTGCTAGGAGGGGACCTTGTTGGGCTGGAGGTGTCCTGCCAGCTGGAGAGGATTAGGGTGCCTCTGTTTCCATGGCTGGGGAGCCACAGGAGGGATGGAGGGCAGCCCTTATGAGGCGGGTGTTTGGCTCTTGCTCAGTTCCCACATAAGGCCTGGTCTAGTGGGCCCTGTGCTGTGGCCAGGTCTGTGGGGTGAGCTGGGGCGGCTGAAGTGGACTCAATTCCTGTTGATGCCCAG
Seq C2 exon
GTGAGGAGCACTCTGCAAATCCGTTCCACTGGGACCTGATTGGGAAGAACCTGTTTGCCATGGTGGTGGAAGGGGTGGTGTACTTCCTCCTGACCCTGCTGGTCCAGCGCCACTTCTTCCTCTCCCAATG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000198691:ENST00000370225:39
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:
PF126982=ABC2_membrane_3=FE(13.7=100)
A:
NA
C2:
PF126982=ABC2_membrane_3=PD(11.0=75.0)
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:
ACGCTGCTCAGGTTCAACG
R:
CATTGGGAGAGGAAGAAGTGGC
Band lengths:
254-586
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