Special

HsaINT0145247 @ hg38

Intron Retention

Gene
Description
strawberry notch homolog 2 [Source:HGNC Symbol;Acc:HGNC:29158]
Coordinates
chr19:1117323-1119164:-
Coord C1 exon
chr19:1119011-1119164
Coord A exon
chr19:1117500-1119010
Coord C2 exon
chr19:1117323-1117499
Length
1511 bp
Sequences
Splice sites
5' ss Seq
CTGGTGAGC
5' ss Score
8.05
3' ss Seq
CTTGTGACGTGTCATTGCAGTGG
3' ss Score
5.46
Exon sequences
Seq C1 exon
GGGCGTTGGCGCCATGGAGATCGTGGCCATGGACATGAAGGTCAGCGGCATGTACATCGCACGCCAGCTCAGCTTCTCCGGCGTCACCTTCCGCATCGAGGAGATCCCGCTGGCCCCAGCCTTCGAGTGCGTCTACAACCGCGCGGCCCTGCTG
Seq A exon
GTGAGCCTGCGCACCCGACCCGGGGACCCCTGTGCGTTTCCCGGGTGAAATTGCTCCCCCGTGGCCTTGCAGATGCCACAGGCGTCATCAGGTGACGGCCCGCCCTGTCCTGTCCTGGGGTTTTTTTTTTGTTGTTTTTTTGAGACAGTCTCGTGCTGTCATCTAGGCTGGAGTGCTGTGGTGTGATCTCAGTTCACTGCAACCTCTGCCTCTTGGGTTTAAGCGATTCTCCCCCCTCAGCCTCTCGAGTAGCTGGAGTTACAGGTGCCCGCCTCCACACCCAGCTAATTTTGTGTATTTTTTGGTAGAGAACGGTGTTTCTCCATGTTGGCCAGGTTGGTTTCAAACTCCTGACCGCAAGTGATCTGCCCGCCTCGGCCTCCCACAGTGCTGGGATGACAGGCGTGAGCCACGTGCCCGGCCATCACTGGGGTTTTTATGTGGCTGTGATAACGAGGGATGGGACCAAACCACCGCCCCCCTTCCTGTGGTGCCCAAGCCCTTTGCCCCCAGGTCCTGGCCCACAGCTGGCAGTTGGTAGCCGTGTTCAGCATCCACATTGCTGTGGGCCATGTGGCTTGGTCGTTCCCTCCATGTTTGGACAGGTCCTGTTTTCTCCCCCTCACGCCCAACAGCCCTGTATGTTCGATGGTTTTTTTTTTTTATTTTTTGAGACGGGGTTTCCACTCTTGTTGCCCAGGCTGGAGTGCAATGGCACGATCTTGGCTCACCGCAACCTCCGCCTACCAGATTCAAGCAATTCTCCTGCCTCAGCCTCCCGCGTAGCTGGGGTTACAGGCATGTGCCACCAGCCCGGCCAATTTTATATTTTTGGTAGAGACAGGATTTCTCCATGTTGGTCAGGCTGGTTGGTCTCAAACTCCTGAGCTCAGGCGATCTGACCGCCTCAGCCTCCCAAAGTGCTGTGATTACAGGCGTGAGCCACCACACCCAGCCTCTTCACTCGTTTCTTTAGGTGACACAACCAGCATCTCCCGTAACCCCCAGGGCCGGGTTGCTCTCCGGGGTGGGGCCGTCCTGAGCACTTTGGGGTATGGAGCAGCATCCGTGGCCAGAGTCCCAGCCACCCTAACCCAGCCCACCCAGTCATGCCGGGACCAGCCCCCAAACCTGACCACCACAGCCAGCCCCAGACATGCCCAGTGTCCCCTGGACAGGATCACACCTGGGTGAGACCCTGGTCCAAAGCAAGAGAGGCGTGGCTGCGAGCACCCTGTGTTCTTGGAAGGAGCTGAGCCTGTTTGCCGCGGGCGCGGAGTCTGTGCAGTTTGCAGCACGGCTTCCCCACCACGAGTGTTTTGGTTTTTCAGGTTTTTGCCGTACAGGTAGAGGCAGTGCCTCTTACAGTGCACACCCCCAGCACCCCCATCCTGCCCTAAATTCCACCTGGCGTGGGGATGCCTTGCCCAGGGCTGGCGGCAGGTGGGCCGGGGCCCGGGTCGGGAGCCAGGAGCCACAGCTCAGGGGCGCCTTGTGACGTGTCATTGCAG
Seq C2 exon
TGGGCCGAGGCCCTGAACGTGTTCCAGCAGGCGGCCGACTGGATCGGCCTGGAGTCGCGCAAGTCCCTGTGGGGCCAGTTCTGGTCGGCACACCAGCGCTTCTTCAAGTATCTGTGCATCGCAGCCAAGGTGCGCCGGCTGGTGGAGCTGGCCCGAGAGGAGCTGGCGCGAGACAAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000064932:ENST00000361757:14
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:
PF138721=AAA_34=PD(16.3=92.3)
A:
NA
C2:
NO


Main Inclusion Isoform:
NA


Main Skipping Isoform:


Other Inclusion Isoforms:
NA


Other Skipping Isoforms:
Associated events
Other assemblies
Conservation
Chicken
(galGal4)
ALTERNATIVE
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
GTTGGCGCCATGGAGATCG
R:
CTTGTCTCGCGCCAGCTC
Band lengths:
327-1838
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