Special

HsaINT0145257 @ hg38

Intron Retention

Gene
Description
strawberry notch homolog 2 [Source:HGNC Symbol;Acc:HGNC:29158]
Coordinates
chr19:1111506-1112067:-
Coord C1 exon
chr19:1111996-1112067
Coord A exon
chr19:1111615-1111995
Coord C2 exon
chr19:1111506-1111614
Length
381 bp
Sequences
Splice sites
5' ss Seq
AAGGTACTG
5' ss Score
8.56
3' ss Seq
GAGTCACCTTCTCCCCCTAGTAT
3' ss Score
6.9
Exon sequences
Seq C1 exon
GGGGCCCTGACCCACGGAGACCGCCGCGCCACGGAGTCCCGTGACCTCAGCAAGTACAACTTTGAGAACAAG
Seq A exon
GTACTGCAGGGAAGGCAGGGTTGGGGGGCGGGGCAGGGGCAGGGGTCTAGGGAGGGCCGGATCTAAGAGCCTGGGGGAGGGGGTAGATGGGGGCTGGAGAACGTGGGGCTCAGTGGTCTGGAGGAGGGCCGGGTCTAGGACCCCCAGGGGGGAAGGGGGCTTCTAGGGGCTCAGGGAGGTGGCATCCAGGGGTCTGGGGGAGGACCCAGTCTAGGACCCCCGGGGAGGAGGTGGCTGAGAGCTGGGGGAGGTGGGGTCTAGGAGTCTAGGGGAGGGCAGGGTCCAGGGGCCTAGGGGAGGGTGGGGTTCTGGGGAGGCAGGGGTCCAGGGAAAGCCAGCCTCCTCCCTGGGCCTCCTCCCCGAGTCACCTTCTCCCCCTAG
Seq C2 exon
TATGGCACCCGGGCCCTGCACTGTGTCCTCACCACCATCCTGAGCCAGACTGAGAACAAAGTGCCTGTGCCCCAGGGATACCCTGGAGGGGTCCCCACCTTCTTCCGGG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000064932:ENST00000361757:23
Average complexity
IR
Mappability confidence:
NA
Protein Impact

ORF disruption upon sequence inclusion

No structure available
Features
Disorder rate (Iupred):
  C1=0.167 A=NA C2=0.054
Domain overlap (PFAM):

C1:
PF138711=Helicase_C_4=FE(8.2=100)
A:
NA
C2:
PF138711=Helicase_C_4=FE(12.9=100)


Main Inclusion Isoform:
NA


Main Skipping Isoform:


Other Inclusion Isoforms:
NA


Other Skipping Isoforms:
Associated events
Other assemblies
Conservation
Chicken
(galGal4)
ALTERNATIVE
Chicken
(galGal3)
ALTERNATIVE
Fruitfly
(dm6)
No conservation detected
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
  • Pre-implantation embryo development