HsaINT0000795 @ hg38
Intron Retention
Gene
ENSG00000064687 | ABCA7
Description
ATP binding cassette subfamily A member 7 [Source:HGNC Symbol;Acc:HGNC:37]
Coordinates
chr19:1051449-1052126:+
Coord C1 exon
chr19:1051449-1051586
Coord A exon
chr19:1051587-1051941
Coord C2 exon
chr19:1051942-1052126
Length
355 bp
Sequences
Splice sites
5' ss Seq
AAGGTAAGA
5' ss Score
10.57
3' ss Seq
GGTTGGTCCCCCGTGCCTAGGTC
3' ss Score
7.5
Exon sequences
Seq C1 exon
GTGGGATGCAACGGAAGCTGTCCGTGGCCATTGCCTTTGTGGGCGGCTCCCAAGTTGTTATCCTGGACGAGCCTACGGCTGGCGTGGATCCTGCTTCCCGCCGCGGTATTTGGGAGCTGCTGCTCAAATACCGAGAAG
Seq A exon
GTAAGAGCTGGGGATTCTGCTCGAGGGGCCAGAAAAGGCTTCTGACAAGGAAGTGCTGGGGATGGGGTTTTGAGGAATGAGTAGGAGTTTGCTACATGTGGACCCCACTTGTTGCTATGGCATTTAGGGGCTACTGCTCAAATACCGAGACAGTAAGAGTTGGGGATAGACAGAGGTTCCCCTGGATTCTGCCTGAAGGGCCAGAAAAGGTTTCCAACAAGGAGGTTCTGGGGATGAGGTTTTGAGGGATGAATAGGAGTTTGCTTCATGGGGCAGACAACTCCTGGCAGAGGCCCCAGCTCGGGCAAAGACGCGGCGGCCTGATGGTAGTTGTGGGTTGGTCCCCCGTGCCTAG
Seq C2 exon
GTCGCACGCTGATCCTCTCCACCCACCACCTGGATGAGGCAGAGCTGCTGGGAGACCGTGTGGCCGTGGTGGCAGGTGGCCGCTTGTGCTGCTGTGGCTCCCCACTCTTCCTGCGCCGTCACCTGGGCTCCGGCTACTACCTGACGCTGGTGAAGGCCCGCCTGCCCCTGACCACCAATGAGAAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000064687:ENST00000433129:20
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=0.016
Domain overlap (PFAM):
C1:
PF0000522=ABC_tran=PD(17.9=55.3)
A:
NA
C2:
NO
Main Inclusion Isoform:
NA

Other Inclusion Isoforms:
NA
Associated events
Other assemblies
Conservation
Chicken
(galGal3)
No conservation detected
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
GGATGCAACGGAAGCTGTCC
R:
CTTCTCATTGGTGGTCAGGGG
Band lengths:
320-675
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