HsaINT0148428 @ hg38
Intron Retention
Gene
ENSG00000063015 | SEZ6
Description
seizure related 6 homolog [Source:HGNC Symbol;Acc:HGNC:15955]
Coordinates
chr17:28956350-28956757:-
Coord C1 exon
chr17:28956719-28956757
Coord A exon
chr17:28956468-28956718
Coord C2 exon
chr17:28956350-28956467
Length
251 bp
Sequences
Splice sites
5' ss Seq
ATGGTAAGT
5' ss Score
11.01
3' ss Seq
CACACCCTCTGTGTCTTCAGTTG
3' ss Score
8.52
Exon sequences
Seq C1 exon
CCTCTCTGGATGGGTTCTACAACAGTCGCAGCCTGGATG
Seq A exon
GTAAGTCTCCACCCTTGAGGCCAGAGAAGTGGTCTCCCTGGTCCTGGTTCTCACGGCTCCCAGGTCATGGGCTTCCCAAGGAGGGAGGGCAGAGAAAGAGAGAGGTTTGGGCCTAGCAGGTTAAAAAGCTCCTTCCCTACACCCAGCCAGCTAGAGGGAGCTGGTAGTCAGATGCCCTTGGGCAGAGGTGAGAGAATATGGGCTCCAGGTGACAGAGACCTCTGCTCCAGTCACACCCTCTGTGTCTTCAG
Seq C2 exon
TTGCCAAGGCACCTGCTGCCTCCAGCACCCTGGATGCTGCCCACATTGCAGCTGCCATCTTCTTGCCACTGGTGGCGATGGTGTTGTTGGTAGGAGGTGTATACTTCTACTTCTCCAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000063015:ENST00000360295:14
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:
NO
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:
CCTCTCTGGATGGGTTCTACA
R:
TGGAGAAGTAGAAGTATACACCTCCT
Band lengths:
156-407
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