HsaINT0148427 @ hg38
Intron Retention
Gene
ENSG00000063015 | SEZ6
Description
seizure related 6 homolog [Source:HGNC Symbol;Acc:HGNC:15955]
Coordinates
chr17:28956719-28957242:-
Coord C1 exon
chr17:28957045-28957242
Coord A exon
chr17:28956758-28957044
Coord C2 exon
chr17:28956719-28956757
Length
287 bp
Sequences
Splice sites
5' ss Seq
CTGGTGAGT
5' ss Score
10.1
3' ss Seq
GCCCTCCCCTTTTGTTCCAGCCT
3' ss Score
8.78
Exon sequences
Seq C1 exon
TGGAACAGCTCAAGCCATGCCATGGTCTCAGTGCCCCTGAGAATGGTGCCCGAAGTCCTGAGAAGCAGCTACACCCAGCAGGGGCCACCATCCACTTCTCGTGTGCCCCTGGCTATGTGCTGAAGGGCCAGGCCAGCATCAAGTGTGTGCCTGGGCACCCCTCGCATTGGAGTGACCCCCCACCCATCTGTAGGGCTG
Seq A exon
GTGAGTGCCCTGTCACCCCTCAAAACCCTCCCTGGCCCATAGAGCTGCTCTGGCAAAGATGTCCAATGTTTAGAACCAGAACCACCTGCCCATGCCACCTTCATGTTACCCTTGGTCTCCCCAGTCTCTGCCAGATCCTTCTGACCTGGCATCACCAAGACAAATGCTGGAGTGGCCTCTCCTTGGACAAATCCTTCCCATGATCATCCCACTACCTCCTCTCCCTGCCTTAGTGGTTTGGCCCATTGGGCTCACTCACTGCCCTTGGCCCTCCCCTTTTGTTCCAG
Seq C2 exon
CCTCTCTGGATGGGTTCTACAACAGTCGCAGCCTGGATG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000063015:ENST00000360295:13
Average complexity
IR
Mappability confidence:
NA
Protein Impact
ORF disruption upon sequence inclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.192 A=NA C2=0.000
Domain overlap (PFAM):
C1:
PF0008415=Sushi=WD(100=86.6)
A:
NA
C2:
NO
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:
TGGAACAGCTCAAGCCATGC
R:
ATCCAGGCTGCGACTGTTGTA
Band lengths:
236-523
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains