HsaINT1000011 @ hg38
Intron Retention
Gene
ENSG00000184389 | A3GALT2
Description
alpha 1,3-galactosyltransferase 2 [Source:HGNC Symbol;Acc:HGNC:30005]
Coordinates
chr1:33312052-33312590:-
Coord C1 exon
chr1:33312501-33312590
Coord A exon
chr1:33312190-33312500
Coord C2 exon
chr1:33312052-33312189
Length
311 bp
Sequences
Splice sites
5' ss Seq
CTGGTAAGA
5' ss Score
9.45
3' ss Seq
CCCATCCCTGCCCTGGCCAGGGC
3' ss Score
7.11
Exon sequences
Seq C1 exon
GCATCTGGAAGCCCTCATCCCCATGGGCGTCTGCCCTTCGGCCACAATGTCCCAGCTGAGAGACAACTTCACAGGTGCCCTGCGTCCCTG
Seq A exon
GTAAGAAGCTCCCATCCCTCCTACTCCAAGGGCACCCCCAAACCCTACACAGCTCTGCCCCATGTCCCTGCCCTCCACACATCTCCCACCCCAGCAGAGCCAGGCACTCTGCCACCAAGTCCAGCAGCCCCATCGGGCCACACATCTCCCAGTCCTCTGTGTTGCTCTGAGCTGGAGGCTTCCAGGGGCAGCAACTAGGTCTCATCGGTCTATGGGTCCCTAGGGCTCAGCACTGGGGAGGTGGCAGTGAACATGCACCAAGTGGGTGGATGAATGGAGCTATTTCCATTTCCCATCCCTGCCCTGGCCAG
Seq C2 exon
GGCCCGGCCTGAAGTTCTGACCTGTACCCCCTGGGGGGCTCCCATTATTTGGGATGGCTCTTTCGACCCAGATGTGGCCAAGCAAGAGGCTAGACAGCAGAACCTCACCATTGGGCTGACTATCTTTGCTGTAGGCAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000184389:ENST00000442999:3
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:
PF034148=Glyco_transf_6=PU(6.1=58.1)
A:
NA
C2:
PF034148=Glyco_transf_6=FE(15.7=100)
Main Inclusion Isoform:
NA
Other Inclusion Isoforms:
NA
Other Skipping Isoforms:
NA
Associated events
Conservation
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
GCATCTGGAAGCCCTCATCC
R:
ACAGCAAAGATAGTCAGCCCA
Band lengths:
222-533
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains