Special

HsaINT0145236 @ hg38

Intron Retention

Gene
Description
strawberry notch homolog 1 [Source:HGNC Symbol;Acc:HGNC:22973]
Coordinates
chr12:123334053-123336491:-
Coord C1 exon
chr12:123336395-123336491
Coord A exon
chr12:123334214-123336394
Coord C2 exon
chr12:123334053-123334213
Length
2181 bp
Sequences
Splice sites
5' ss Seq
AATGTATGT
5' ss Score
5.87
3' ss Seq
GTTTTTACATTTTTGTTTAGTAA
3' ss Score
5.31
Exon sequences
Seq C1 exon
AAGGTTCCTGTTGTAAAAGAAGATGATGAACCAGAGGAAGAAGATGAAGAAGAAATGGGTCATGCAGAAACCTATGCAGAATACATGCCAATAAAAT
Seq A exon
GTATGTCTTCGGGATTTGTCAGATATTTACATCAAAGTTTTCCTGTGGTTTCTTTGGTTCTTTTTGTTTTGTTTTTTTCCATATAAATTTAGAATCTTGCTTTAGGTCAAAGTCTTTTAAAACCAAAACTAAAGAAGCTTGGATTTTATTTTAATTTTGTTCATAGGAGTAGTGATTATAAAAATCAAAGGTAATTGTAAAGATATATAAAGCTAAGATATTTAATACAACTTGTCTAAAATTGTAAAAACATTGAAATTATAAAAATAATTGTGCTATTTGAATTCCATAGTTTTTGTTTCTCCCTTTTGTATAACATGGTTCTTTTTTTAGCAGCCACTGTATGAAGTCGAAAATTAGGTTTTTAATATTTGCATAAAATTTTCACTTTTTCATTACAGGAAACAAATCTATGTCTAGAATTTGTCTTTCATGTAGTCTTGGTTTCTATAAAAAACCACTAATAATACCATTTGAATTGAACTACAATTCTCTTTTTATCAACTACTGATAGACTCAAGATTCCATCCTTTTCTGCTCACCTACAATGAATTTTAGAAGTCCTATCTGAAATTCTGTTTTTCTTATTCCAATAATCATTTTGCAAAAGGATTGAAAGAGTTTATGGCCCTTTAAACCAGAGGACAGCAAACTAAATCTGGACCACTCGCTTTTTTATAGTAAATAAGGTTTTATTGGAACATAGACATGTTTATTGGTTTACTTATTATCTATGGCTGCGTTGACACTACAGCAGCAATGTTAAGTAGTTGTACAAGAGACAGGATGGCCTAAAACGGCAAAATCATTCTCTGACCCTTTACAGAAAAAGCTTCCAGATCATTATTTTAATGTATTCATGTTGTACATTTTGGGGACTTGGTTGTTAAATTTTATAGCCAAGTTGTCTTTCGAATACTTTTCAAAGTAAAATATGTTCTTTTTAAGACGGGGTCTGGCTCTTTACTCAGTCTGGAGTGCAGTGGCATGCTCTTGCCTCACTGCAACCTCCACCTCCCAGGATCCCTCCTGGATTCTAGCAATTCTCGTGCTTCAGCCTCTTGAGTAGCTAGGATTACAGGTGTGCACCATCATGCCTGGCTGATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCGTGTTGGCCAGGCTGGTCTCGAATGCCTGACCTCAGGAGATCCACCCACCTTGGCCTCCCAGCTGCTGAGATTACAGGCGTGAGCCACCATGCCCAGCCAGGCAGTGGCGCAATCTTAGCTCACTGCAGCCTTAGCCTACAAGGCTCAAGCAATCCTCCTGTCTCAGACTCCTGAATAGCTCGGACCACAGGTCCCACCACCATGCCCAGCTAATTTTTGGATTTTAATTGTAGAGATGAGGGTCTCACTATATTGCCAAGGCTGGTCTTGAACTCTTGGCCTCAAATGATACTCCTGCTTTGGCCTCCCAAAGTGCTGAGATTACAAGCATGAACCTTCATGCCTAGCCTCAAAATAAAATTGTATTGCAAACTTTTGTTTTACTGAATGAATGCTTGAAGTAACTGAACTCCTTAATCTGGCATTATGTTCTGTTACTACTAGAGAACCTGCTGTTATGAACCAAGTGGTGTTTTTTTAGATCTTTTTTTTATCAGCAAATCTCTATTTTATTTTATTTATTATTTAATTTTATTTATTTATTTTTTGAGACAGAGTCTCACTGCATCACTCAGGCTGGAGTGCAGTGGCACAGTCTCGGCTCCCTGCAACCTCCGTCTCCTGGGTTCAAGCAATTCTCGTTCCTCAGCCTCCTGAGTAGCTGGAATTACAGGCGCGTGCCAACATGCCCAGCTAATTTTTGTATTTTTAGTAGAGACAGGGATTTGCTGTGTTGGCCAGGCTGGTCTTGAACGCCTGACCTCAAGTGATCCCTCCACCTTGGCCCCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCCACCTGGCCCAAATCTCTGTTTTAACCATATGTAGTTGATAAATCATTTTAGTCAAATATAGATAGTACTTTGTCATCAGTTACTTTTTATGGAAGCTCAGAGTGAATACTTTTTAATTATTTTTCTATGTTATAAGAAAAACATTGAAATATCTTATAATGAAACTGGAAATGTTATTACTTAGAATAATTAAAATAAAATGTTTTTACATTTTTGTTTAG
Seq C2 exon
TAAAAATTGGCCTACGTCATCCAGATGCTGTAGTGGAAACCAGCTCTTTATCCAGTGTTACTCCTCCTGATGTTTGGTACAAAACATCCATTTCTGAGGAAACCATTGATAATGGCTGGTTATCAGCATTGCAGCTTGAGGCAATTACATATGCAGCCCAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000139697:ENST00000267176:6
Average complexity
IR
Mappability confidence:
NA
Protein Impact

ORF disruption upon sequence inclusion

No structure available
Features
Disorder rate (Iupred):
  C1=0.727 A=NA C2=0.052
Domain overlap (PFAM):

C1:
NO
A:
NA
C2:
PF138721=AAA_34=PU(16.2=92.6)


Main Inclusion Isoform:
NA


Main Skipping Isoform:


Other Inclusion Isoforms:
NA


Other Skipping Isoforms:
Associated events
Other assemblies
Conservation
Chicken
(galGal4)
ALTERNATIVE
Zebrafish
(danRer10)
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