HsaINT0148426 @ hg38
Intron Retention
Gene
ENSG00000063015 | SEZ6
Description
seizure related 6 homolog [Source:HGNC Symbol;Acc:HGNC:15955]
Coordinates
chr17:28957045-28957539:-
Coord C1 exon
chr17:28957348-28957539
Coord A exon
chr17:28957243-28957347
Coord C2 exon
chr17:28957045-28957242
Length
105 bp
Sequences
Splice sites
5' ss Seq
TCCGTAAGT
5' ss Score
10.27
3' ss Seq
GCACTCTGCCTGCTTTGTAGTGG
3' ss Score
4.95
Exon sequences
Seq C1 exon
TGACTTCCTGCCACGATCCTGGAGATGTGGAGCACAGCCGACGCCTCATATCCAGCCCCAAGTTTCCCGTGGGGGCCACCGTGCAATATATCTGTGACCAGGGTTTTGTGCTGATGGGCAGCTCCATCCTCACCTGCCATGATCGCCAGGCTGGCAGCCCCAAGTGGAGTGACCGGGCCCCTAAATGTCTCC
Seq A exon
GTAAGTGTCAATTGAGTAGGAGGGAAAACCTCTAGCTGGAGATAAAAGATGCTGCCCTGGAGGCCAAGGGCATGACACCCTCACTGCACTCTGCCTGCTTTGTAG
Seq C2 exon
TGGAACAGCTCAAGCCATGCCATGGTCTCAGTGCCCCTGAGAATGGTGCCCGAAGTCCTGAGAAGCAGCTACACCCAGCAGGGGCCACCATCCACTTCTCGTGTGCCCCTGGCTATGTGCTGAAGGGCCAGGCCAGCATCAAGTGTGTGCCTGGGCACCCCTCGCATTGGAGTGACCCCCCACCCATCTGTAGGGCTG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000063015:ENST00000360295:12
Average complexity
IR
Mappability confidence:
NA
Protein Impact
ORF disruption upon sequence inclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.015 A=NA C2=0.192
Domain overlap (PFAM):
C1:
PF0008415=Sushi=WD(100=92.3)
A:
NA
C2:
PF0008415=Sushi=WD(100=86.6)
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:
CCACGATCCTGGAGATGTGGA
R:
GGGTGTAGCTGCTTCTCAGGA
Band lengths:
258-363
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Genotype-Tissue Expression Project (GTEx)
- Autistic and control brains