HsaINT0148434 @ hg38
Intron Retention
Gene
ENSG00000063015 | SEZ6
Description
seizure related 6 homolog [Source:HGNC Symbol;Acc:HGNC:15955]
Coordinates
chr17:28960505-28960973:-
Coord C1 exon
chr17:28960805-28960973
Coord A exon
chr17:28960672-28960804
Coord C2 exon
chr17:28960505-28960671
Length
133 bp
Sequences
Splice sites
5' ss Seq
CAGGTGAGG
5' ss Score
10.07
3' ss Seq
CTGCCACTCTCCTGGTTCAGGCT
3' ss Score
8.26
Exon sequences
Seq C1 exon
CTGCTTGCGGCGGAGTGATCCGCAATGCCACCACCGGCCGCATCGTCTCTCCAGGCTTCCCGGGCAACTACAGCAACAACCTCACCTGTCACTGGCTGCTTGAGGCTCCTGAGGGCCAGCGGCTACACCTGCACTTTGAGAAGGTTTCCCTGGCAGAGGATGATGACAG
Seq A exon
GTGAGGGGCTGTCCTAGTGGAATGGGAGTGCCTGGCCTGGTAATACCCTGCTGGAGGGACGCTACCCAAGCCTGGGGCCACACCCCATCTGGGTCAGCCACCAGCCTACATAGCTGCCACTCTCCTGGTTCAG
Seq C2 exon
GCTCATCATTCGCAATGGGGACAACGTGGAGGCCCCACCAGTGTATGATTCCTATGAGGTGGAATACCTGCCCATTGAGGGCCTGCTCAGCTCTGGCAAACACTTCTTTGTTGAGCTCAGTACTGACAGCAGCGGGGCAGCTGCAGGCATGGCCCTGCGCTATGAGG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000063015:ENST00000360295:6
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=0.006
Domain overlap (PFAM):
C1:
PF0043115=CUB=PU(49.5=94.7)
A:
NA
C2:
PF0043115=CUB=PD(49.5=94.7)
Main Inclusion Isoform:
NA
Other Inclusion Isoforms:
NA
Other Skipping Isoforms:
Associated events
Other assemblies
Conservation
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
GGGCAACTACAGCAACAACCT
R:
CGCTGCTGTCAGTACTGAGC
Band lengths:
242-375
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