Special

HsaINT0145217 @ hg38

Intron Retention

Gene
Description
strawberry notch homolog 1 [Source:HGNC Symbol;Acc:HGNC:22973]
Coordinates
chr12:123323680-123325599:-
Coord C1 exon
chr12:123325502-123325599
Coord A exon
chr12:123323832-123325501
Coord C2 exon
chr12:123323680-123323831
Length
1670 bp
Sequences
Splice sites
5' ss Seq
CAAGTAATG
5' ss Score
2.09
3' ss Seq
TCACTGTTTCTCTCCTACAGAGG
3' ss Score
11.53
Exon sequences
Seq C1 exon
TGTGTTGTAATTGGTCTGCAGTCTACAGGAGAAGCTAGAACATTAGAAGCTTTGGAAGAGGGCGGGGGAGAATTGAATGATTTTGTTTCAACTGCCAA
Seq A exon
GTAATGTTTTTGTTCTTTTAATGTTTTTGTTTCTTTTTGAGTTCTTCCTTACCTTAGTTCCAATGTGGGCATTTCCTGGAGACAAAACTTTTGTTTCACCTGCATCATCTTTAAGTTTTCTTGATCTGAGTTTTCTGCTTTTCTGTAACAGTGTATCTATTGGAAAACAATAACAGAAATCTCATAATCCTAAAATGTTAAGCATTTTGCTAATATTACACAGAGTATGTGAACTAACAGAAGGGCTAGACTTTGTTTATCTTGTACATCTTGGAAATCTGTGACAGCTTGGCTTAGATTCAGTTTTAGTGTACTGTATTTGAAATTACCGTTATCCACAGGAACAGTAACTATAGTTTGTCCTAATATAACGAAGTCTACTTTATAAGTTGGCTGAGCATGGTGGCTCACAGCTGTAATCTCAGCACTTTGGGAGGCCAACATGGGCACATCACTTGAGGTCAGTAGTTTGAGACCAGCCTGGCCAAAATGGTGAAACCCCATCTCAACTAAAAATAAAAAAAATTAGTTGGGCATGGTGGCACACGTCCTGTAGTCCCACCTACCTGGGAGGCTGAGGCAGGAGAATCCATTGAACCCGTGAGGTGGAGGTTGCAGTGAGCCAAGATCGCACCACTCCACTCCACTCCCCTCTGGGCGGCAGAGTGAGACCCTGTCTCAAAAAAAAATAAAATAAAATAAAGTCTACTTTAAAAGTTGAAAATAAGCATGAGATCTTCAGAAATAGATTTTAAAATGTTTTAGGCATTGTTTTTAGTTTGCCTAACCTCCACATTCAAACTCTGGTAGTAAACTGAGCAAAATAAACTTGCTGCTCTACTATTTTGTGCCTCGGGATGCATTCAGATGCTCCTTTCAAAAGCAATACATGGGGCTCACGCCTGTAATCCAGGCACTTTGGGAGGCTGAGTCTGGTGGATCACGAGAGCTCAGGAGTTTGAGACCAGCCTGGCCAACACGGTGAAACCTCGTCTCTACTAAAAATACAAAAACTAGCCAGGCGTGGTGGCGGGCACCTGTAATCCCAGCTACTGGAGAGGCTGAGGCAGGAGAATTGCTTGAACCCAGGCGGCGGAGGTTGCAGTGAGCTGAGATGGCACCATTGCACTCCAGCCTGGGTGACAGAGAGACTCGGTCTCAAAAAAAAAAAAAAAAAGAAAAAAGCAAGACATACACCTGCTAATCTATATTTTTCTGTACATAATTGCCTAGAACTACCGTGTCCAGAATGGCAGCCGCTTGTCACATGTGGCTATTGAGCAGTTGAAATGACTGGTCCATATTGAGATGTTATTATATGTGTACTGAGCCAGGTTTCAAAGACTCCTTAAGAGAAAATAACATAAAACATATGTGTTGACATGGTATATTGAGTTAAAATGTATTATTAAAATTAGTTCCACCAGTTTTATTTATTTTTTACTTTTTTAATTTAAGCTACCAGAAAATACAATAATTGTGTATGTGGTTTGGCTTGCATTCTTATTATTTAGTTGGACAGCTTTGGGCTAGAAAATTAAAATTTATTTGAGCTCGTTTATCAGTATTTTGTAAAACTGAACAAAGTATATTTCAATATATTTAATAATACTTTACATATAATTATTTTGTCAACTGAAGCAGTAATTGTCACTGTTTCTCTCCTACAG
Seq C2 exon
AGGTGTGTTGCAGTCACTCATTGAAAAACATTTTCCTGCTCCAGACAGGAAAAAACTTTATAGTTTACTAGGAATCGATTTGACAGCTCCAAGTAACAACAGTTCGCCAAGAGATAGTCCTTGTAAAGAAAATAAAATAAAGAAGCGGAAAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000139697:ENST00000267176:15
Average complexity
IR
Mappability confidence:
NA
Protein Impact

ORF disruption upon sequence inclusion

No structure available
Features
Disorder rate (Iupred):
  C1=0.030 A=NA C2=0.423
Domain overlap (PFAM):

C1:
NO
A:
NA
C2:
NO


Main Inclusion Isoform:
NA


Main Skipping Isoform:


Other Inclusion Isoforms:
NA


Other Skipping Isoforms:
Associated events
Other assemblies
Conservation
Zebrafish
(danRer10)
No conservation detected
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
TGTGTTGTAATTGGTCTGCAGTCT
R:
TTTTCTTTACAAGGACTATCTCTTGG
Band lengths:
230-1900
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