HsaINT0000810 @ hg38
Intron Retention
Gene
ENSG00000064687 | ABCA7
Description
ATP binding cassette subfamily A member 7 [Source:HGNC Symbol;Acc:HGNC:37]
Coordinates
chr19:1057314-1058059:+
Coord C1 exon
chr19:1057314-1057429
Coord A exon
chr19:1057430-1057914
Coord C2 exon
chr19:1057915-1058059
Length
485 bp
Sequences
Splice sites
5' ss Seq
TGGGTGAGG
5' ss Score
6.74
3' ss Seq
GACTCCTATTGTCCCTTCAGCTG
3' ss Score
8.31
Exon sequences
Seq C1 exon
TGTAACTACTTGGTGCCAGCATGCATCGTGGTGCTCATCTTTCTGGCCTTCCAGCAGAGGGCATATGTGGCCCCTGCCAACCTGCCTGCTCTCCTGCTGTTGCTACTACTGTATGG
Seq A exon
GTGAGGCCCCCAGTCCCTCAGGGCCTATTCTTACTGACCCCTTACTGCCTTCCACATTAATGCTGCTGAGATAGAACTCTGCAGTGACTCCCAAGGAGAGGATATGGAGGTCTGAGGTGATGCCGTGTGTGATCCAATTCAGTGGTGTGCCAAGGTGGCCTTAAAAGCTCATCTTATCCTGACTCATATTAGTAGAGTTCTAAGGCAGCCCATGCCTGTAATTCCAGTACTTTGGGAGGCCGAGGCAGGAGGACTGCTTGTGGCCAGGAGTTTGAGACCAGCCTGGGAAACATAGAGAGACCCACCTCTAAAAAAGAAAGAAAGAGAGAGAAAGAGAAAGAGAGAAAGAAAAAAAAAAAAACAGAAATGTGCTTTGGGTGAAAATGTCAAGGTCTAAGGCAGAGAAGATGGGAATGGAGATTTTTATTCCTCTCAGGGCTTCTCAGTCTGAGTGGTTACTCCAGTGACTCCTATTGTCCCTTCAG
Seq C2 exon
CTGGTCGATCACACCGCTCATGTACCCAGCCTCCTTCTTCTTCTCCGTGCCCAGCACAGCCTATGTGGTGCTCACCTGCATAAACCTCTTTATTGGCATCAATGGAAGCATGGCCACCTTTGTGCTTGAGCTCTTCTCTGATCAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000064687:ENST00000433129:34
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(11.9=100)
A:
NA
C2:
PF126982=ABC2_membrane_3=FE(15.1=100)
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:
AACTACTTGGTGCCAGCATGC
R:
TCAGAGAAGAGCTCAAGCACA
Band lengths:
254-739
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