Special

HsaINT0145251 @ hg38

Intron Retention

Gene
Description
strawberry notch homolog 2 [Source:HGNC Symbol;Acc:HGNC:29158]
Coordinates
chr19:1113535-1114422:-
Coord C1 exon
chr19:1114231-1114422
Coord A exon
chr19:1113705-1114230
Coord C2 exon
chr19:1113535-1113704
Length
526 bp
Sequences
Splice sites
5' ss Seq
GGGGTGAGG
5' ss Score
5.5
3' ss Seq
ACCCTCCACCTCCTCCCTAGGAC
3' ss Score
10.33
Exon sequences
Seq C1 exon
GGCGACCTCGGGGACGCGGGGCCAAAGCCCCCCGGCTGGCGTGCGAGACAGCGGGCGTCATCCGCATCAGTGACGACAGCAGCACGGAGTCGGACCCTGGCCTGGACAGCGACTTCAACTCCTCCCCCGAGTCCCTGGTGGATGACGACGTTGTCATCGTTGATGCAGTCGGGCTCCCCAGTGACGACCGGG
Seq A exon
GTGAGGGCTTGCCCAGGCTGGCCAGCCACCTGTGGGTCAGGATTCCAGTCCAGGCTGAGCAGCCACCTCTGGGTCAGGATTCCAGCCTGAGGCTCCCCCGGCCTCCTGGCGGTCACCACCCACCCCAGGTTGTAGCCCTCAGTCCAGCCCACCTGAGCCCAGCTGCTGCTATGGTGCCCACTTTACAGATGGGGGAAACTGAGGCCCAGAGAGGGGAGGTCAGGGGTTATACCACTGGTCAGAGGCAGAGCTGGGGCTTGGGGCTGGGCAGTCCCTACCCCTGTGGAGGCAGTGAGGTCACAGTGTTTGGTCCGCGACAGGAGGCTTAGTCTCGCCCCAGCTGGTCTCAGGGAGACAAGTGCAGAAAAGCAGTCCTGGGCCACGGTGCCGGGCTTCCCCGCCACCCTGCCGTCCCTCAGGGTTGCCCCGGGCCCCTTGTCCTTGCCCTCCAGGGGCCAGCCTTGAGTTAGGTGGGCCCTAGAAGGCAGCCAACATGTCCTGCCCTGACCCTCCACCTCCTCCCTAG
Seq C2 exon
GACCCCTGTGCCTCCTGCAGAGAGACCCGCATGGCCCCGGGGTCCTGGAGCGGGTGGAGCGGCTGAAGCAGGATCTGCTGGACAAAGTGCGGCGGCTGGGCCGGGAACTGCCAGTCAACACCCTGGACGAGCTCATCGACCAGCTGGGCGGCCCCCAGCGGGTGGCGGAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000064932:ENST00000361757:18
Average complexity
IR
Mappability confidence:
NA
Protein Impact

ORF disruption upon sequence inclusion

No structure available
Features
Disorder rate (Iupred):
  C1=0.446 A=NA C2=0.456
Domain overlap (PFAM):

C1:
NO
A:
NA
C2:
PF138711=Helicase_C_4=PU(6.1=29.8)


Main Inclusion Isoform:
NA


Main Skipping Isoform:


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:
GAGACAGCGGGCGTCATC
R:
CAGCTGGTCGATGAGCTCGT
Band lengths:
294-820
Functional annotations
There are 0 annotated functions for this event


GENOMIC CONTEXT[edit]

INCLUSION PATTERN[edit]


SPECIAL DATASETS

  • Autistic and control brains
  • Pre-implantation embryo development