HsaINT0114860 @ hg38
Intron Retention
Gene
ENSG00000134250 | NOTCH2
Description
notch 2 [Source:HGNC Symbol;Acc:HGNC:7882]
Coordinates
chr1:119921713-119922446:-
Coord C1 exon
chr1:119922236-119922446
Coord A exon
chr1:119921810-119922235
Coord C2 exon
chr1:119921713-119921809
Length
426 bp
Sequences
Splice sites
5' ss Seq
GAAGTAAGA
5' ss Score
6.42
3' ss Seq
TCTTTTTATAATCATATTAGAAA
3' ss Score
4.79
Exon sequences
Seq C1 exon
GTGAATCCCTGACTCCAGAACGCACTCAGCTCCTCTATCTCCTTGCTGTTGCTGTTGTCATCATTCTGTTTATTATTCTGCTGGGGGTAATCATGGCAAAACGAAAGCGTAAGCATGGCTCTCTCTGGCTGCCTGAAGGTTTCACTCTTCGCCGAGATGCAAGCAATCACAAGCGTCGTGAGCCAGTGGGACAGGATGCTGTGGGGCTGAA
Seq A exon
GTAAGAGGCATTGCCAATAAGCCACTATTCACAGTATAAGTAGGGATGACTAGAAAAGCATATCTTGTTGAATCATGATTTTAAATTCTAAGCTCTGGGCATTTACTCACATTGACCATGATTCTAAATGCCTTGTGAGTGACTGAAACCACAGTCAGAGCGTGGGTGCATCTATTCTGTGTATATTATCACAATGCCGCCCAGCTTCTGTGTTGAGGTGCCCTTTTGTTGTAAGCTCACGATCAATGGGAAGGGAAAGGATGAATGCCAAGGGAATGTCACCAAAAATACTGCCCATCTTCTCTGGGCCAAGACCCTGCAAAATTGTAATATAGCCACGGGAGTGTGTCATGGTGGAAAGTGTTGAAAACCACTGTATTAGTTTATGACTGCCATTCTTATTTTTTCTTTTTATAATCATATTAG
Seq C2 exon
AAATCTCTCAGTGCAAGTCTCAGAAGCTAACCTAATTGGTACTGGAACAAGTGAACACTGGGTCGATGATGAAGGGCCCCAGCCAAAGAAAGTAAAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000134250:ENST00000256646:28
Average complexity
IR
Mappability confidence:
NA
Protein Impact
ORF disruption upon sequence inclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.169 A=NA C2=0.545
Domain overlap (PFAM):
C1:
PF076847=NODP=PD(14.8=12.7)
A:
NA
C2:
NO
Main Inclusion Isoform:
NA
Other Inclusion Isoforms:
NA
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
GAATCCCTGACTCCAGAACGC
R:
TTTACTTTCTTTGGCTGGGGC
Band lengths:
305-731
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