HsaINT0148451 @ hg19
Intron Retention
Gene
ENSG00000100095 | SEZ6L
Description
seizure related 6 homolog (mouse)-like [Source:HGNC Symbol;Acc:10763]
Coordinates
chr22:26707734-26709868:+
Coord C1 exon
chr22:26707734-26707928
Coord A exon
chr22:26707929-26709729
Coord C2 exon
chr22:26709730-26709868
Length
1801 bp
Sequences
Splice sites
5' ss Seq
GAGGTGAGC
5' ss Score
8.7
3' ss Seq
TGCCTGTCTGTCTTTTACAGCCA
3' ss Score
11.61
Exon sequences
Seq C1 exon
CGTTTGAGAAAGGCCACTGCTATGAGCCCTACATCCAGAATGGGAACTTCACTACATCCGACCCGACCTATAACATTGGGACTATAGTGGAGTTCACCTGCGACCCCGGCCACTCCCTGGAGCAGGGCCCGGCCATCATCGAATGCATCAATGTGCGGGACCCATACTGGAATGACACAGAGCCCCTGTGCAGAG
Seq A exon
GTGAGCGGATCCACAACGCTCTTCCCACGGCACCCCAGGGATCTCCACCCTTTGGATGAGAAGACCAAGGCCCCAGCTTAGAGGCCTGTCCCCAGTTTTCATACCAACTTTAGGATTAGAACCCTTTCCAGGGTTCACTGTCCTTTGGTTCAGGGTTGCTGCTGGTCTTGAGAAAATTACAAAATGGGTGAATTTTAGAAGGTGCACCTTCTTCCAGGCATAGGTCCCACAGTGCACAGCTTAGTGAGCTGAATACTGCATGGATTTCAGCTCCTAAATACTCCCTCTGCTACGCATGCTTGTGCAGTGCACAACCCACGCAATAACCTCATTAATAAGAACAATAATAGTTCTTAATTGGTGTGTAATAATTATGCTACCAGCACTTTGCTAAGAGTGTGTGTGCATTATCTGATTTCAACCTCACCATAGCCTTATAAAGTAGATTGTATCGGCCCCATTTGTAGGTGAGAAACTAATGCTGTGAAGTGACCTGCCTAAGAACACACAAGGGGAATTGGCAGGGACAGGAATGGAACTCATGTCTCTTTGTTCTCAGAGCACTGTGCTCTGAGCCCCACTGGACAGTGTTGTAGAACCCTCATCTACACAGGCTGCAGTGGACTGTCCTGCCAGTTTCCCCATATTCTTTTTGTTGTTGAGACAGAGACTCGCTCGGCTCACTGCAGCCTCCGCTTCCCGGGTTCAAGCGATTCTCCTGTCTCAGCCTCCTGAGTAGCTGGGACTACAGGCGTGTGCCACCACAGCCGGCTAATTTTGTATTTTTAGTAGAAACGGGGTTTCACCATATCAGCCAGGCTGGTCTCGAACTCCTGACCTCAAGTGATCCACCCACCTTGGCCTCCCAAAGTGCTGGCATTACAGGCATGAGCCATCGCACCTGGCCCGTTTCCCCATATTCAAGGCTGCTGAGCCACCCTGAGCCTGGGTCTCCTGCTGGCATGTGGAGTAATGAAAGGTGCCCTCACTCCTGGCAGCCACCGCCTCAATGGCAGTTGGTGTGAAATCACAGCCTTGCCATGGTGAGGGATTGATCCCTATATTAAATGTGCCGATTTAACAGAGCGGAATTTATTGGTGCTTTGGCCTCTGCCATGTTGAGACCTTTCCAAAGTGGTAAACACAGAGTAGAATTTAAAGGGCACCTGCCGCAGCCACATCTCTGCTTCCAGTTCAGGGCCGGGACCTGTCATAGCAACATTATCTAAATTATCGAGCAGCTACCATGTGCCAGACACTGTGCAGCATGTTTGACATTCATGAGCTTAAGCCTCAAAATAACCCAATGAGGTTGGCAGTGGTATTGCCCCCATTTTGTAGAGAAAGGGAGCTGAGGCTCTGGGAAATTACATACCTCCTCCTACAGCCTGTTAGCAGCAGAGGCAAGATTGGGACCCCGGGACCACCTAACTTGAGTGGGCGGTCTCTTAGCCACTACTCACCCCGCAAAAGAGCAGAGGCTGTTGAGGAGTCATTCTGACCACTGAGCTCTGTCCTTGGTCTTGAAAGAGCAATAGCACCTCTTAGCCCAACTTTTACCAACCCTCAGGTGCAAGGTAGGCAGCTGGCCAGCTCTCATTTAATCATTACACACACACACACACACACACACACACACACGCACACACACACACGTGCTGGCTGCCCGAGGTGAAGACACCTGTCCACAGTACACAGAGATTCACGGCTGTCTGACTTCATAGCCCACATGGTTAGCCGCTATGCCACATTGACTTCTTTACAAATAAAGTCCGTCTTCTTGCCTGTCTGTCTTTTACAG
Seq C2 exon
CCATGTGTGGTGGGGAGCTCTCTGCTGTGGCTGGGGTGGTATTGTCCCCAAACTGGCCCGAGCCCTACGTGGAAGGTGAAGATTGTATCTGGAAGATCCACGTGGGAGAAGAGAAACGGATCTTCTTAGATATCCAGTT
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000100095-SEZ6L:NM_001184773:8
Average complexity
IR-S
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:
PF0008415=Sushi=WD(100=87.9)
A:
NA
C2:
PF0043115=CUB=PU(40.4=93.6)
Main Inclusion Isoform:
NA
Other Inclusion Isoforms:
NA
Other Skipping Isoforms:
Associated events
Other assemblies
Conservation
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
CGTTTGAGAAAGGCCACTGCT
R:
AACTGGATATCTAAGAAGATCCGTT
Band lengths:
334-2135
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains
Other AS DBs:
FasterDB (Includes CLIP-seq data)
AS-ALPS (AS-induced ALteration of Protein Structure, links to PINs)
APPRIS (Selection of principal isoform)
DEU primates (Only for human)