HsaINT0000789 @ hg38
Intron Retention
Gene
ENSG00000064687 | ABCA7
Description
ATP binding cassette subfamily A member 7 [Source:HGNC Symbol;Acc:HGNC:37]
Coordinates
chr19:1047453-1049005:+
Coord C1 exon
chr19:1047453-1047654
Coord A exon
chr19:1047655-1048894
Coord C2 exon
chr19:1048895-1049005
Length
1240 bp
Sequences
Splice sites
5' ss Seq
CAGGTGGGC
5' ss Score
8.07
3' ss Seq
ACCCGCGCCCCTCCCCGCAGGCC
3' ss Score
12.5
Exon sequences
Seq C1 exon
AGCCTGCTGTCGCCCGTGGCCTTCGGCTTCGGCTGCGAGAGCCTGGCTCTGCTGGAGGAGCAGGGCGAGGGCGCGCAGTGGCACAACGTGGGCACCCGGCCTACGGCAGACGTCTTCAGCCTGGCCCAGGTCTCTGGCCTTCTGCTGCTGGACGCGGCGCTCTACGGCCTCGCCACCTGGTACCTGGAAGCTGTGTGCCCAG
Seq A exon
GTGGGCCGTAGGGGGCGGGGCTCCGGGCCGGGTCGCACCTGCTTTGCGGGAGGCTGAGCTAGGGGTGTGGCCTCCAGGCCGTTTGGGGGTGGGGGGTGGCTTATTCCCTTGGAGAGAAGGCGGGGCTTCTTGGCACACGCATGCAGGTGGCTGCATTGGAGGGGCGGGGCCTGAGGCAGGTGGGCGGGGTTTCTGGGCCGCCTCATACCTGGACGCCCTGATTCCAGGTGTATGGCCAGAAGCTGGCACAGTCGCCGGGCGCTGTGGCTCACGCTTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGAGAATCGCTTGAGCCCAGGAGTTTGAGACCAGGCTGGGCAATATAGTGAGACCTCATCAATACAAAAAGTTAGCTGGGCGTGGTGGCACGCTGGGCGTGGTGGCACGCTCCTGTAGTCCCAGCTACTCGGGAGGATGGGGTGGGAGGATCACTCGAGCCCAGGAGGTTGAGGCTGCTGTGAGCCGTGATCCCACCAGCCTGGGCAACAGAGTGAGACCTCCATCTCTTTAAAAAAAAAAAAAAAAAAAAAGCTGGCTGGGTGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGGTCATCTGAGGTCGGGATTTCGAGACCAGCCTGACCAACATGGAGAAACCCCGTCTCTACTAAAAATACAAAATTAGCTGGGTGTGGTGGCGGGTGCCTGTTTCCTAGCTACTTGGAAGGCAGAGGCAGGAGAAATGCTTGAATCCCGGAGGCGGAGGTTGCGGTGAGTCGAGATCGCGCCACTGCACTCCAGCCTGGGCAACAAGAGTGAAACTCAGTCTCAAAAAAAAAAAAACAAAAAAAAAAAAAACAAGGCCGGGCACGGTGGCTCACGCCTGCTTTCCCAGCACTTTGGGAGGCCGAGGTGGGCAGATCACGAGGTCAGGAGATGGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTCCCAAAAATACAAAAAATTATCCAGGCATGGTGGCGGGCGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATGACGTGAACTGGGGAGGCGGAGCTTGCAGCGAGTCAAAATCGTGCCACTGCACTCCAGCCTGGGCAACAGAGCAAGACTCCGTCTCAAAAAAAAAAAAAAACAAAACCCCAAAAAAAGCCTGGTACACTCCTGGGGGGTGGGCTAAGCAATAACCCGCGCCCCTCCCCGCAG
Seq C2 exon
GCCAGTACGGGATCCCTGAACCATGGAATTTTCCTTTTCGGAGGAGCTACTGGTGCGGACCTCGGCCCCCCAAGAGTCCAGCCCCTTGCCCCACCCCGCTGGACCCAAAGG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000064687:ENST00000433129:15
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=0.289
Domain overlap (PFAM):
C1:
PF126982=ABC2_membrane_3=PD(27.4=88.2)
A:
NA
C2:
NO
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:
CCTGGCTCTGCTGGAGGAG
R:
CTTTGGGTCCAGCGGGGT
Band lengths:
271-1511
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