HsaINT0114872 @ hg38
Intron Retention
Gene
ENSG00000134250 | NOTCH2
Description
notch 2 [Source:HGNC Symbol;Acc:HGNC:7882]
Coordinates
chr1:119965453-119966489:-
Coord C1 exon
chr1:119966376-119966489
Coord A exon
chr1:119965567-119966375
Coord C2 exon
chr1:119965453-119965566
Length
809 bp
Sequences
Splice sites
5' ss Seq
CTGGTAAGT
5' ss Score
10.65
3' ss Seq
TACCACTGTCCCTTTTTGAGGTT
3' ss Score
4.9
Exon sequences
Seq C1 exon
GTTTCAAAGGTGTGCATTGTGAATTAGAAATAAATGAATGTCAGAGCAACCCTTGTGTGAACAATGGGCAGTGTGTGGATAAAGTCAATCGTTTCCAGTGCCTGTGTCCTCCTG
Seq A exon
GTAAGTGCCCACGACCTGGCCCTGTTTTCTCTTAAAGCACAAAGCCAACTGACCACAGGGAAGAGAGCAGGGAGAGAATGTGTGTGGGCTGTGCATGAGGAAATCATTAGAGTAAGTGCTTGGTGATAGGAGTGTGTGTGTACAGAAATAGAGAATTTGTTTTAGCTACTATATCTTACAAGTCCTTTGTGGCCAAAAGTCCAAGTCTATTCTTGAATGGCCCATGACCTCTTCGTCTGTGTATATATTTCAGAATGCTCATACCTCACAGAAGCCTTAGTTGTAGGCTATTCGGGATTTTATTTTTTTCCCATGGGTCATATTCTTGAAGGCCCTCTGTGAGACTGTTATTTTTAGACATTTCACCCATGAGTTCAGAAACAGACAACACATGCCAATTTTTCCAAGATTCTCTGTCTCTCCTTTTTTTTCCTCAAGCTATTTTTGAAGATATGCCAAATTGTCCTCCATAGATTGCATCTTACCCCATTGTATCTTCAGAGAGAAGGTTTCTGTTGCCTCTGAAGCTACAGTTACTTGTTTGAGGTTCCACCTATAAATTTCACTTCCTACATCCTTCATTTAGAAGTGAAGTCTGTCTGTGAAGAAGCAATGGTAGAGACACACCACAAGTGCCTCTGATTCCCTGAGTGTCACCTGGTTATTCCAGTTACCTGTTGGGGAGAATAATAAAGCATAGGCTTATTGACCCATTGGTATAAGCCCTGCTAGTAACCTAACATCATTCTCATGGTAAAGGGAGACACAAGATAATCCTTTGACTCATGTTACCACTGTCCCTTTTTGAG
Seq C2 exon
GTTTCACTGGGCCAGTTTGCCAGATTGATATTGATGACTGTTCCAGTACTCCGTGTCTGAATGGGGCAAAGTGTATCGATCACCCGAATGGCTATGAATGCCAGTGTGCCACAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000134250:ENST00000256646:9
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:
PF0000822=EGF=PD(16.1=12.8),PF0000822=EGF=PU(80.6=64.1)
A:
NA
C2:
PF0000822=EGF=PD(16.1=12.8),PF0000822=EGF=PU(83.3=64.1)
Main Inclusion Isoform:
NA
Other Inclusion Isoforms:
NA
Associated events
Other assemblies
Conservation
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
GTTTCAAAGGTGTGCATTGTGA
R:
GCACACTGGCATTCATAGCCA
Band lengths:
223-1032
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