HsaINT0000643 @ hg38
Intron Retention
Gene
ENSG00000167972 | ABCA3
Description
ATP binding cassette subfamily A member 3 [Source:HGNC Symbol;Acc:HGNC:33]
Coordinates
chr16:2284279-2284998:-
Coord C1 exon
chr16:2284779-2284998
Coord A exon
chr16:2284438-2284778
Coord C2 exon
chr16:2284279-2284437
Length
341 bp
Sequences
Splice sites
5' ss Seq
CAGGTGGGC
5' ss Score
8.07
3' ss Seq
ATCTTACCTCCCCAACGCAGCTG
3' ss Score
6.56
Exon sequences
Seq C1 exon
GTGGTGTTTAAGGCCTTCGACGTGCGTGCCTTCACGCGGGACGGCCACATGGCTGACACCCTGCTGCTGCTCCTGCTCTACGGCTGGGCCATCATCCCCCTCATGTACCTGATGAACTTCTTCTTCTTGGGGGCGGCCACTGCCTACACGAGGCTGACCATCTTCAACATCCTGTCAGGCATCGCCACCTTCCTGATGGTCACCATCATGCGCATCCCAG
Seq A exon
GTGGGCACCTGGAGACCACCCGCAGCCCCCATGGCCATCCACGGAGCCACTCCGCCCAGACAGGGAGGCACCAGCCACAGCCGAGGCGGGACTCAGGCAATGGGCCCAGTTCATGCTCACCAGCCCCTCTGCCCCAGCTGGCCCTGCCCGGCTAGCCATGACTGGTGGGCAGGCGTCTGCGGCGTCCTTGCCCTGTGCAGAGCCGGCAGGGGCGTCCCTGGGAGGTGCCCCCTCACTCCACACAGCACGGATAAGGCCCTGTGCCCGCCCTGACCAGGCCCGTCCTGGAGGTGGGTGTGGTGTGCCCTCCAGCGCAGACTGATCTTACCTCCCCAACGCAG
Seq C2 exon
CTGTAAAACTGGAAGAACTTTCCAAAACCCTGGATCACGTGTTCCTGGTGCTGCCCAACCACTGTCTGGGGATGGCAGTCAGCAGTTTCTACGAGAACTACGAGACGCGGAGGTACTGCACCTCCTCCGAGGTCGCCGCCCACTACTGCAAGAAATATA
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000167972:ENST00000301732:24
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(18.2=100)
A:
NA
C2:
PF126982=ABC2_membrane_3=FE(13.2=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:
GGTGTTTAAGGCCTTCGACGT
R:
CTCGGAGGAGGTGCAGTAC
Band lengths:
349-690
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