HsaINT0000633 @ hg38
Intron Retention
Gene
ENSG00000167972 | ABCA3
Description
ATP binding cassette subfamily A member 3 [Source:HGNC Symbol;Acc:HGNC:33]
Coordinates
chr16:2297766-2298540:-
Coord C1 exon
chr16:2298386-2298540
Coord A exon
chr16:2297922-2298385
Coord C2 exon
chr16:2297766-2297921
Length
464 bp
Sequences
Splice sites
5' ss Seq
CAGGTGAGT
5' ss Score
10.67
3' ss Seq
TGCGTCCCCTGTCGTTGCAGCTG
3' ss Score
10.37
Exon sequences
Seq C1 exon
GTCTCTTTCCCCCCACCAGTGGACGGGCATACATCAGCGGGTATGAAATTTCCCAGGACATGGTTCAGATCCGGAAGAGCCTGGGCCTGTGCCCGCAGCACGACATCCTGTTTGACAACTTGACAGTCGCAGAGCACCTTTATTTCTACGCCCAG
Seq A exon
GTGAGTTGGGGGCCAGGGGTGTGCAGGGGTGTTTCCACTGATGTGCTCGAGTTTCTGGGGCAGTCTTCCGAGGAGCTAAACTGGAGGAAGGGAGCCAGGAGGGCAGGAGCCAGGGTTCTGAGTCCAGCTACGTCAAGGAGAGGTTCCTCTCACCAGAACCTCGCTGGCCAGGGTCGGCCTCCCGCCAGGAGCCCTGCATCTCCCCAGCTACGTCAAGGAGAGGTTCCTCTTACCAGAAACTCGCTGGCCGTGGTCGGCCTCCCGCCAGGAGCCCTGCATCTCCCCAGCTACGTCAAGGAGAGGTTCCTCTCACCAGAACCTTGCTGGCCGTGGTCGGCCTCCCGCCAGGAGCCCTGCATCTCCCCAGCTACGTCAAGGAGAGGTTCCTCTCACCAGAACCTCGCTGGCCAGGGTCGGCCTCCCGCCAGGAGCCCTGCATCTCCCTGCGTCCCCTGTCGTTGCAG
Seq C2 exon
CTGAAGGGCCTGTCACGTCAGAAGTGCCCTGAAGAAGTCAAGCAGATGCTGCACATCATCGGCCTGGAGGACAAGTGGAACTCACGGAGCCGCTTCCTGAGCGGGGGCATGAGGCGCAAGCTCTCCATCGGCATCGCCCTCATCGCAGGCTCCAAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000167972:ENST00000301732:15
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=0.000
Domain overlap (PFAM):
C1:
PF0000522=ABC_tran=FE(35.2=100)
A:
NA
C2:
PF0000522=ABC_tran=FE(35.2=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:
CAGTGGACGGGCATACATCAG
R:
CTTGGAGCCTGCGATGAGG
Band lengths:
295-759
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