HsaINT0148425 @ hg38
Intron Retention
Gene
ENSG00000063015 | SEZ6
Description
seizure related 6 homolog [Source:HGNC Symbol;Acc:HGNC:15955]
Coordinates
chr17:28957348-28958141:-
Coord C1 exon
chr17:28957947-28958141
Coord A exon
chr17:28957540-28957946
Coord C2 exon
chr17:28957348-28957539
Length
407 bp
Sequences
Splice sites
5' ss Seq
GGGGTGAGT
5' ss Score
7.93
3' ss Seq
CCATCACCCCCTACCCATAGTGA
3' ss Score
6.64
Exon sequences
Seq C1 exon
AGGTGCCCCGCAATGACACATGTCCGGAGCTGCCTGAGATCCCCAATGGCTGGAAGAGCCCATCGCAGCCTGAGCTAGTGCACGGCACCGTGGTCACTTACCAGTGCTACCCTGGCTACCAGGTAGTGGGATCCAGTGTCCTCATGTGCCAGTGGGACCTAACTTGGAGTGAGGACCTGCCCTCATGCCAGAGGG
Seq A exon
GTGAGTATACCTGTTCCCCACGCTCCCCTTCCCAACACAAACTCCAAACCTCTCTCCTGGATTCTGAACCAGACTGTAGCTGTTATTAGCTAGTATCTTCAAAGTTCCTTCACCTCTTATAGCCTCAGTTTCCTCATCTGTGAAATGGGGATGATACTTTTCATGGGGTTATCAGCCACGTACTCTAAGTATTTCATTCCTGGTAGATGGCCAATCAGTTTTTATCGAACCTAATAGATGGGAAGGGGACAAATGGGGGGACACACTAGCATAATGGTAGGGACAGATACGTAGGGGGTAGACCCATACGACATGAAGAAGTTAGCTGGCCTGGAACAAAGCCAGGGTGGATTGGCCTCTGCTTAGTTCTCCTTGGGCTACTTCTCCCCATCACCCCCTACCCATAG
Seq C2 exon
TGACTTCCTGCCACGATCCTGGAGATGTGGAGCACAGCCGACGCCTCATATCCAGCCCCAAGTTTCCCGTGGGGGCCACCGTGCAATATATCTGTGACCAGGGTTTTGTGCTGATGGGCAGCTCCATCCTCACCTGCCATGATCGCCAGGCTGGCAGCCCCAAGTGGAGTGACCGGGCCCCTAAATGTCTCC
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000063015:ENST00000360295:11
Average complexity
IR
Mappability confidence:
NA
Protein Impact
ORF disruption upon sequence inclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.121 A=NA C2=0.015
Domain overlap (PFAM):
C1:
PF0008415=Sushi=WD(100=84.8)
A:
NA
C2:
PF0008415=Sushi=WD(100=92.3)
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:
GAGCTGCCTGAGATCCCCAAT
R:
ATTTAGGGGCCCGGTCACTC
Band lengths:
355-762
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