HsaINT0148451 @ hg38
Intron Retention
Gene
ENSG00000100095 | SEZ6L
Description
seizure related 6 homolog like [Source:HGNC Symbol;Acc:HGNC:10763]
Coordinates
chr22:26311768-26313902:+
Coord C1 exon
chr22:26311768-26311962
Coord A exon
chr22:26311963-26313763
Coord C2 exon
chr22:26313764-26313902
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:ENST00000404234:8
Average complexity
IR
Mappability confidence:
NA
Protein Impact
ORF disruption upon sequence inclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.002 A=NA C2=0.005
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