HsaINT0148465 @ hg38
Intron Retention
Gene
ENSG00000174938 | SEZ6L2
Description
seizure related 6 homolog like 2 [Source:HGNC Symbol;Acc:HGNC:30844]
Coordinates
chr16:29872705-29873431:-
Coord C1 exon
chr16:29873240-29873431
Coord A exon
chr16:29872744-29873239
Coord C2 exon
chr16:29872705-29872743
Length
496 bp
Sequences
Splice sites
5' ss Seq
AAGGTGCCT
5' ss Score
5.39
3' ss Seq
TCCCCCTCCTCTCCCTGCAGTTG
3' ss Score
12.54
Exon sequences
Seq C1 exon
TGAAGTACGAGCCGTGCCTGAACCCGGGGGTTCCCGAGAATGGCTACCAGACGCTGTACAAGCACCACTACCAGGCGGGCGAGTCTCTGCGCTTCTTCTGCTATGAGGGCTTTGAGCTTATCGGCGAGGTCACCATCACCTGTGTGCCCGGCCACCCCTCCCAGTGGACCAGCCAGCCCCCACTCTGCAAAG
Seq A exon
GTGCCTGGCCAGACAGGGCAGGAGGGGCACACCAGTGTCCGGGAAGTGACAGGGCTGGGAGAGTCAGGTAGCACATTTGAGACCAATGGGCGACCCCACAGAGCTCCCGGTTCTCCTCCTGTGGCCTCGTGTCCTCACGGGTGTGTCCAGAAGCCCTGGGTCGTGTGAGGTCATGGGATTGGCTCAGGGGTGTAGTAGAGGGGGCCTTGGCTTGGAAGTCCCTTGCTCTGAATAGGCCTCAGTTTCCCTATCGCTGACAAGTTCTAGTTTGGCTCAGACTGTCCAGGAACCCTGACTTTTTAGGGGTCTGGAGAAAGAGGACAAAGGCCCTGTGCTGGTCACTCCTCTCTCTTCCCCACAAAGGGAGAAAGTTGAGGTTGAGCAGAGGGCAGAGAGAACCAGGCTGTCCAGCCCAGCCCCACCGGGCTCCCGGCCCCTCCCAGCCTCCTCCCCTCCCTGGCTCAGACCCCATCCCCTCCCCCTCCTCTCCCTGCAG
Seq C2 exon
TTGCCTATGAGGAGCTCCTGGACAACCGAAAACTGGAAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000174938:ENST00000350527:14
Average complexity
IR
Mappability confidence:
NA
Protein Impact
ORF disruption upon sequence inclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.012 A=NA C2=0.143
Domain overlap (PFAM):
C1:
PF0008415=Sushi=WD(100=89.2)
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:
TGAAGTACGAGCCGTGCCT
R:
TTCCAGTTTTCGGTTGTCCAGG
Band lengths:
230-726
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains