HsaINT0148437 @ hg38
Intron Retention
Gene
ENSG00000063015 | SEZ6
Description
seizure related 6 homolog [Source:HGNC Symbol;Acc:HGNC:15955]
Coordinates
chr17:28959025-28959472:-
Coord C1 exon
chr17:28959334-28959472
Coord A exon
chr17:28959222-28959333
Coord C2 exon
chr17:28959025-28959221
Length
112 bp
Sequences
Splice sites
5' ss Seq
AGTGTGAGT
5' ss Score
6.96
3' ss Seq
CTGACGCTCCTCCTTCACAGGCT
3' ss Score
9.38
Exon sequences
Seq C1 exon
CCGTGTGCAGCGGGGAGATCACAGACTCGGCTGGCGTGGTACTCTCTCCCAACTGGCCAGAGCCCTACGGTCGTGGGCAGGATTGTATCTGGGGTGTGCATGTGGAAGAGGACAAGCGCATCATGCTGGACATCCGAGT
Seq A exon
GTGAGTGCCTACCGGGTCAGGCCGAGCCAACTCCTGAGGTCTGGGGATATCCCTTGTCCAGCCCATCCTCGGGCCCCCAGGCCGGCTCTGCCCTGACGCTCCTCCTTCACAG
Seq C2 exon
GCTGCGCATAGGCCCTGGTGATGTGCTTACCTTCTATGATGGGGATGACCTGACGGCCCGGGTTCTGGGCCAGTACTCAGGGCCCCGTAGCCACTTCAAGCTCTTTACCTCCATGGCTGATGTCACCATTCAGTTCCAGTCGGACCCCGGGACCTCAGTGCTGGGCTACCAGCAGGGCTTCGTCATCCACTTCTTTG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000063015:ENST00000360295:9
Average complexity
IR
Mappability confidence:
NA
Protein Impact
ORF disruption upon sequence inclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.009 A=NA C2=0.000
Domain overlap (PFAM):
C1:
PF0043115=CUB=PU(40.4=93.6)
A:
NA
C2:
PF0043115=CUB=PD(58.7=95.5)
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:
GTATCTGGGGTGTGCATGTGG
R:
GAAGTGGATGACGAAGCCCTG
Band lengths:
248-360
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