HsaINT0148436 @ hg38
Intron Retention
Gene
ENSG00000063015 | SEZ6
Description
seizure related 6 homolog [Source:HGNC Symbol;Acc:HGNC:15955]
Coordinates
chr17:28959334-28959892:-
Coord C1 exon
chr17:28959698-28959892
Coord A exon
chr17:28959473-28959697
Coord C2 exon
chr17:28959334-28959472
Length
225 bp
Sequences
Splice sites
5' ss Seq
GAGGTCAGT
5' ss Score
7.7
3' ss Seq
GGGCCTCCTCTGCCTTCCAGCCG
3' ss Score
7.12
Exon sequences
Seq C1 exon
CCTTCCAGCAGGGCCATTGCTATGAGCCCTTTGTCAAATACGGTAACTTCAGCAGCAGCACACCCACCTACCCTGTGGGTACCACTGTGGAGTTCAGCTGCGACCCTGGCTACACCCTGGAGCAGGGCTCCATCATCATCGAGTGTGTTGACCCCCACGACCCCCAGTGGAATGAGACAGAGCCAGCCTGCCGAG
Seq A exon
GTCAGTAGACACCAGTGGATGGGCCTACCGGGCAAAAGGCAGGGTCATACCAGGAGAATAGCAGCAGAGCCCGGGGCCACAGGGGCCCTGTGATATGCGTGGTTCAGGCTTCCTCCAAGGAGGAGGTGGGGGGTCCCAGCAATTTGTGGGCACTCCTGCGGGCAGATGGTAAGCAACACCATGGTAAGCTTGAAAAGACCCTTCTGGGCCTCCTCTGCCTTCCAG
Seq C2 exon
CCGTGTGCAGCGGGGAGATCACAGACTCGGCTGGCGTGGTACTCTCTCCCAACTGGCCAGAGCCCTACGGTCGTGGGCAGGATTGTATCTGGGGTGTGCATGTGGAAGAGGACAAGCGCATCATGCTGGACATCCGAGT
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000063015:ENST00000360295:8
Average complexity
IR
Mappability confidence:
NA
Protein Impact
ORF disruption upon sequence inclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.032 A=NA C2=0.009
Domain overlap (PFAM):
C1:
PF0008415=Sushi=WD(100=87.9)
A:
NA
C2:
PF0043115=CUB=PU(40.4=93.6)
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:
GGCCATTGCTATGAGCCCTTT
R:
GCTTGTCCTCTTCCACATGCA
Band lengths:
301-526
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