HsaINT0000785 @ hg38
Intron Retention
Gene
ENSG00000064687 | ABCA7
Description
ATP binding cassette subfamily A member 7 [Source:HGNC Symbol;Acc:HGNC:37]
Coordinates
chr19:1045002-1046406:+
Coord C1 exon
chr19:1045002-1045231
Coord A exon
chr19:1045232-1046229
Coord C2 exon
chr19:1046230-1046406
Length
998 bp
Sequences
Splice sites
5' ss Seq
CAGGTCAGG
5' ss Score
7.2
3' ss Seq
CCACCATGCCCCTCTCGCAGGTT
3' ss Score
9.35
Exon sequences
Seq C1 exon
TGCCTGTCCTTGGACAAGCTGGAGGCGGCACCCTCAGAGGCAGCCCTGGTGTCGCGGGCCCTGCAACTGCTCGCGGAACATCGATTCTGGGCCGGCGTCGTCTTCTTGGGACCTGAGGACTCTTCAGACCCCACAGAGCACCCAACCCCAGACCTGGGCCCCGGCCACGTGCGCATCAAAATCCGCATGGACATTGACGTGGTCACGAGGACCAATAAGATCAGGGACAG
Seq A exon
GTCAGGCGAGGGAGGGGGCGGGGGGATGAGGGACTGGGCGGGGCCAAGAGCGTGGTGGGTGGGGCCAGGCAGCATTCAGCCTATTGGAGACCATGATAGACAGGATCTGGGCTGTATCAACAGTGGTATGGTAGCCAGAGCCCGGGGCTCCTTAGACCAATAGGGGCCCGTGATGGGCGGGGCCTAGGTGCATGAGGGGCGTGGCCATGGGCCTGAGATAAGATGAGAGCAGGTATAGGTTGAGGGCAATGGTGGGCGGAGCCAGGTGTATTATTAGGTCCCTGGAATAAGGGTGGAGCTAAAATTGCACCGGGTGCTGAGCGCAGTAGATCTTGCCTGTTATCTCAGAACTTTGGGAGGCCAAAGTGGGAGAATCTCTTGAGGACAGGTATTCGAGACTAGCCTGGGCAACATAGTGAGACCGCCTCCCCCCCGCCCCCCTCCCCCACCAACCTCACGAAAATATCTTTAAAAATTAGCCAGGTGAGGCCGGGCACAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGCGGATCACGAGGTCAGGAGATCAAGACCATCCTGACTAACTCGGTGAAACCCTGCCTCTACTAAAAAAAAAAAGTACAAAAAATTAGCCGGGCGTGGTAGCACGCGCCTGTAGGCCCAGCTACCCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGCGGAGGTTGCAGTGAGCCGAGATGGCGCCACTGCACTCCAGCCTGGGCGATAGAGCGAGACTCCGTCTCAAACAAATGAATAAATGAATAAAATTAGCCAGGCGACTTGGGAGGCCGAGCTGGGGGGATCGTTTGATCCCGGGAGGTCAAGGCTGCAGTGAGCTATGATTGCAGCTCTTCACTCCAGCCTGGGCGACAGAGCAAGACCCTGTCTAAGAAAAAGGTTATTCAGGGTGGGGCCCCGGGAGTTTCTAGCCCTTCCCTACAACCGGCCACCATGCCCCTCTCGCAG
Seq C2 exon
GTTTTGGGACCCTGGCCCAGCCGCGGACCCCCTGACCGACCTGCGCTACGTGTGGGGCGGCTTCGTGTACCTGCAAGACCTGGTGGAGCGTGCAGCCGTCCGCGTGCTCAGCGGCGCCAACCCCCGGGCCGGCCTCTACCTGCAGCAGATGCCCTATCCGTGCTATGTGGACGACGT
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000064687:ENST00000433129:11
Average complexity
IR
Mappability confidence:
NA
Protein Impact
ORF disruption upon sequence inclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.195 A=NA C2=0.000
Domain overlap (PFAM):
C1:
NO
A:
NA
C2:
PF126982=ABC2_membrane_3=PU(4.1=15.0)
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:
AACTGCTCGCGGAACATCGAT
R:
CGTCGTCCACATAGCACGGAT
Band lengths:
342-1340
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