HsaINT1000115 @ hg38
Intron Retention
Gene
ENSG00000198691 | ABCA4
Description
ATP binding cassette subfamily A member 4 [Source:HGNC Symbol;Acc:HGNC:34]
Coordinates
chr1:94021640-94021951:-
Coord C1 exon
chr1:94021846-94021951
Coord A exon
chr1:94021715-94021845
Coord C2 exon
chr1:94021640-94021714
Length
131 bp
Sequences
Splice sites
5' ss Seq
GGGGTATGT
5' ss Score
7.48
3' ss Seq
TTTGTTTACATGGTTTTTAGGGC
3' ss Score
8.06
Exon sequences
Seq C1 exon
GTATGGAGGAATTTCCATTGGAGGAAAGCTCCCAGTCGTCCCCATCACGGGGGAAGCACTTGTTGGGTTTTTAAGCGACCTTGGCCGGATCATGAATGTGAGCGGG
Seq A exon
GTATGTAAACAGACTGGAGATTTGAGTAGGATTTTTGACTTGCTTAACTACCATGAATGAGAAACTCTCATGAGTGATAACAGGAAAAAAAAATTAAAACCGTCTTGTTTGTTTGTTTACATGGTTTTTAG
Seq C2 exon
GGCCCTATCACTAGAGAGGCCTCTAAAGAAATACCTGATTTCCTTAAACATCTAGAAACTGAAGACAACATTAAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000198691:ENST00000370225:33
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:
PF126982=ABC2_membrane_3=PU(6.4=76.0)
Main Inclusion Isoform:
NA
Other Inclusion Isoforms:
NA
Associated events
Conservation
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
TGGAGGAATTTCCATTGGAGGA
R:
ATGTTGTCTTCAGTTTCTAGATGTTT
Band lengths:
174-305
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains