HsaINT0148424 @ hg38
Intron Retention
Gene
ENSG00000063015 | SEZ6
Description
seizure related 6 homolog [Source:HGNC Symbol;Acc:HGNC:15955]
Coordinates
chr17:28957947-28959221:-
Coord C1 exon
chr17:28959025-28959221
Coord A exon
chr17:28958142-28959024
Coord C2 exon
chr17:28957947-28958141
Length
883 bp
Sequences
Splice sites
5' ss Seq
TTGGTGAGC
5' ss Score
7.43
3' ss Seq
TTGTGCCTCTGTGCCCCCAGAGG
3' ss Score
10.01
Exon sequences
Seq C1 exon
GCTGCGCATAGGCCCTGGTGATGTGCTTACCTTCTATGATGGGGATGACCTGACGGCCCGGGTTCTGGGCCAGTACTCAGGGCCCCGTAGCCACTTCAAGCTCTTTACCTCCATGGCTGATGTCACCATTCAGTTCCAGTCGGACCCCGGGACCTCAGTGCTGGGCTACCAGCAGGGCTTCGTCATCCACTTCTTTG
Seq A exon
GTGAGCTTGTCCCTACCCCACTCAGAGTGCAGACAGCAAGCCATGGCAAGCCAAAGAGGCTAGGGCAGTGAGGTGCCTGAATGCTGTCTCAGACAAGAGTAAGCTGGAAAAGCACCAGGGATCACCTGGAGGAAGCTAGTCCTGTTCTCCATCTGCCCTGAGGGAGAGCCAGAATTCTATAGTGGCAAGAGGGGTTTGGGTAGGCAGCAGAACAACTTTCTTTTTCTTCCTTTTTTTTTTTTTCTGAGACAGTTTCCCTCTGTCACCCAGACCATGGTGTGATCTCTGTTCATTGCAACCTCCACCTCCTGGGCTCAAGCGATTCTCGTGCCTCATCCTCCTGAGTAGCTGGGATTATAGGCACATGCCACCACGCCTGGCTAATTTTTTTATTTTTAGTGGAGACCGGATTTTGCCATGTTGGCCTGGCTGGTCTCGAACTCCTGGCTTCAAGTGATCTGCCCACCTCAGCCTCCCAAAGTGCTGGCATTACAGGTGTGAGCCACTGCACCTGGCCAGAACAACTTTCAAACAAAAATGGGGGAACTAAGGAAAGGTGCTGGCTTCTATCTTTCTGACAATCTTTCATAGAAGTGACGATTTCCCTCACCCTACCTGGCCCCATCTCTCAGGCCTAAGGAACTGGTCAAGGTGCTTTTGGAAGTAAGGCCAAAGCTTAAATGCTAACCCTGGAATCTAGGAGACAGAGCAATGTCAGGCAGTCAAGGAGGGGCCCTTGAGCAGGGAGGAATGGATCCCTGAGCCCGCCCAGGACAGTCTAGGTCCAGGACAAACTAGCAGGAGCCAGAGTGCCCTCAAGGTGAGGGGGACAGTCACTTTGGTGCTGGCCGAGGGCCTGCATCTTGTGCCTCTGTGCCCCCAG
Seq C2 exon
AGGTGCCCCGCAATGACACATGTCCGGAGCTGCCTGAGATCCCCAATGGCTGGAAGAGCCCATCGCAGCCTGAGCTAGTGCACGGCACCGTGGTCACTTACCAGTGCTACCCTGGCTACCAGGTAGTGGGATCCAGTGTCCTCATGTGCCAGTGGGACCTAACTTGGAGTGAGGACCTGCCCTCATGCCAGAGGG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000063015:ENST00000360295:10
Average complexity
IR
Mappability confidence:
NA
Protein Impact
ORF disruption upon sequence inclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.000 A=NA C2=0.121
Domain overlap (PFAM):
C1:
PF0043115=CUB=PD(58.7=95.5)
A:
NA
C2:
PF0008415=Sushi=WD(100=84.8)
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:
TAGGCCCTGGTGATGTGCTTA
R:
GTTAGGTCCCACTGGCACATG
Band lengths:
352-1235
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains