Special

HsaINT0148441 @ hg38

Intron Retention

Gene
Description
seizure related 6 homolog like [Source:HGNC Symbol;Acc:HGNC:10763]
Coordinates
chr22:26347719-26351243:+
Coord C1 exon
chr22:26347719-26347913
Coord A exon
chr22:26347914-26351051
Coord C2 exon
chr22:26351052-26351243
Length
3138 bp
Sequences
Splice sites
5' ss Seq
AAAGTAAGA
5' ss Score
6.91
3' ss Seq
TCTGGTTTCATCCCGTGTAGTTA
3' ss Score
5.48
Exon sequences
Seq C1 exon
AGGTATCAAGGAATGACTCCTGCTCGGATTTACCCGAGATCCAGAATGGCTGGAAAACCACTTCTCACACGGAGTTGGTGCGGGGAGCCAGAATCACCTACCAGTGTGACCCCGGCTATGACATCGTGGGGAGTGACACCCTCACCTGCCAGTGGGACCTCAGCTGGAGCAGCGACCCCCCATTTTGTGAGAAAA
Seq A exon
GTAAGAGTGGTCTTGTTTCCTTCCTCTAGGTCCCTGGGTGGCAAATCCCTTCTAGGGATCTTTTTTTGGTGGGTGCAGTGGAGCTGTTTAATGTAGAATCTGGACTCCCCCTCCACCACCAATTCACGAGCATTGCTCACAAATGTCATTTTATAGCTGTCAGTGGAATTACAGACTCAGGTGCCTTCAGAAACCTGGACCATAATGTAAACGAGTGAGATAAGCTGGGTGTGAGACATTAGGGAGTGGTGTGAACTCCAGTGAATGGGAGCGTATGTAGCCTGGTGAAAAAGAACATTTGGCTGGGTGTAGTGGCTCATGCCTGTAATCCTAGTGCTTTGGGAGGCTGAGGTGGGAGGATCACTTGAGCCCATGAGTTTGATAGCAGCCTGGGCAATACAGTGAGACCCTATCTCTAAAAAATAATAATAAGCATAAAAATTAGCTGGGTGTGGTGGGACACACCTGTAGTCCTAGCTACTCAGGAGGCTGAGACAGAAGGATTGCTGGAACGCAGGTGTTTGAGCTATGATTATGCCTCTGCCCTTTAGCCTGGGTGACAGAGCAAAACCCTGTTGAGAGGGGTGGCTGGGAGAGAGAGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGGAGGAAAGAAAGAAAGAAAGAAAGAGAAAGAAAGAAAGAAAGAAAGAGAAAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAGGCAAGGGAGGGAAGGGAGGGAAGGGAGGGAAGGGAAGAAGGGAGGAAGGGAGGGGGAGGGAAGGGGAGGGAAGGGGAGGGAAGGGGAGGGAAGGGGAGGGAAGGGGAGAGAAGAGAGGGAAGGGGGGAGGGAAGGGGAGAGAAGGGAGGGAGGGGAGGGTGAGGGAAGGGGAGTGAAGGGGAGGGAGGGGAGGGAAGGAATGAAAGAGGGGAGGGAGGGAAGGAAGGAAGGGAGGGAGGGAAGGAAAAAGAGAGAAGGGAGAGGAGAGGAGAGGAAGGGAGGGAAAAATCATTATTATTTAACCATTTTAAGGGATTGGAATGAACATGAACTAGTTCCCTATAGAAGTCTTCTTACCTGCCTCATTTTTTGCCAAGAAAAGGCCCAAAGTGGGCAAATAAATTTGAATTGGGCCCCTTCTATGTGGGACTGTTTGCATTTCCATGCTGGGTCTCTCACTTATCCTCCATCCAAGACAGTGGAGACCCACCAATCACCTCTGTTGTTCTCTCTTCTGATGAAATGAGGTCAGAAAAACCCCTTGGCACAATGGTCTCCCCATAGAAGTCACTGGATTTCATTAACCTTTCATTGGTTAATCTCCTGTCTTGACATTGAAAGACATATATAGCCATATCTTAAAATTACATTGGTAACGATGCTTACTTATAGTACCCAGGCAGTAGTAAAATGATAGAATAGAAAGTGAAAATCTTTGATGATGTTACTCTTTGGAAACAACGCTGCTGTTAAACATTTATTCTATATTGCTTCAATTGTGTGTGTGTGTACATGCACATCATACATACATTACATGTCACACATAGACATCTATATATGTGTCATCTGTCATATGTCAATCATAGCTCACTGCAACCTCAAGGTTTTGGGCTCAAGCAGTCCTCCCACCACAGCCCCCCAAAATGCTGGGGTTACAGATGTGAACAACCACACCCAGCTAATTTTTAAAAATTTTTTGTAGAGACAGGGGTCTTGCTATGTTGCCCAGGCTGGTCTCAAACTCCTGGCCTCAGCCTCCCAGAGAGCTGGGATTACAGGCATGAGCCACCGCACCCAGCAGATCCATTCTTACAAACTTCCTGCATCTGCTTTTTTTTCAGCTCAGAAATGTGGATATCTTTTCATATCATACATGTTGTCCAGTTTATTCTCTTTTAATTGGTTTATTGTTTTCCTTTTATCTATATTGATTTTTTAATGTGAAAAGTAATGAAAGTTTATTTTACTACATTCCAGCACTACAGAGAAAGCAGTGAAGGCTCCCCCTCACTTTGTTCTCTTTAGCAGTTGCTCAGAATTTCATGGGATGGCTATTCCATGATATTTAACTCTTTCCCTGTTAAACTATTTGCAATGTTTCCTTTTTAAAAAAATCGCAAATAATAATGCAATATGCAACCTTATACATAGGTCTTTGGACCCTGATGCAAATTATTTGGGCAAATTCATATATATGTGTGTGTGTGTGTATATATATATATACACATATATATATATATATATTTATATGTATTTTTTTGAGGCAAGGTCTCACTCTGTTGCCCAGGCTGGAGTGCAGTGGTGCCATAATGGCTCACTGCAGCCTTGACCTGCCAGGCTTAAGCGATCCTCTCACCTCAGCCTCCTGAGTAGCTGGAAAAACAGGTGTACCCCACCATGCCCCATTAATTTTTGTATTTTTTGTAGGGACCGGATCTTGCTGTGTTGCCCAGGCTGGTCTCAAACTCCTGAGCTCAAGCGATTCATCCACCTCTGTCTTCCCTTTCAAGTCCTAGGATTACAGGCATGAGCTACCGTGCCCCACCTCTTTGGGCAAATTCTTAAAAGAGGAATTAAATTCAAGGCTATTTTCTCCTGGCCTATTCTCCAGCCACCTATCAACAAAAGATACATTATCTTCCAAAAAGGAAAAGAACTGAGTTAGGAAACTTTTTTTTTTTTTTTTTTTGAGATGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGTGCGATCTCGGCTCACTTCAAGCTCCGCTTCCCGGGTTCACGCCATTCTCCTGCTTCAGCCTCCCGAGTAGCTGGGAGTACAGGCGCCCACCACCAGGCCAGGCTAATTTTTTGTGTTTTTAGTAGAGACGGGGTTTCACCATGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCACCCGCCTCGGCCTCCCAAATTGCTGGGACTACAGGCGTGAGCCACCGCACCCGGCCAAGTTAGGAAACTTTCTAGATCATTCTGTAATTCTCAGCAAACCCATGGTCATCCAGAGGTCTGACGTCCTCTTGGTCTGGTTTCATCCCGTGTAG
Seq C2 exon
TTATGTACTGCACCGACCCCGGAGAGGTGGATCACTCGACCCGCTTAATTTCGGATCCTGTGCTGCTGGTGGGGACCACCATCCAATACACCTGCAACCCCGGTTTTGTGCTTGAAGGGAGTTCTCTTCTGACCTGCTACAGCCGTGAAACAGGGACTCCCATCTGGACGTCTCGCCTGCCCCACTGCGTTT
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000100095:ENST00000404234:11
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=0.000
Domain overlap (PFAM):

C1:
PF0008415=Sushi=WD(100=84.8)
A:
NA
C2:
PF0008415=Sushi=WD(100=92.3)


Main Inclusion Isoform:
NA


Main Skipping Isoform:


Other Inclusion Isoforms:
NA
Associated events
Other assemblies
Conservation
Primers PCR
Suggestions for RT-PCR validation
F:
No suggested primer sequences
R:
No suggested primer sequences
Band lengths:
Functional annotations
There are 0 annotated functions for this event


GENOMIC CONTEXT[edit]

INCLUSION PATTERN[edit]


SPECIAL DATASETS

  • Autistic and control brains