HsaINT0114854 @ hg38
Intron Retention
Gene
ENSG00000134250 | NOTCH2
Description
notch 2 [Source:HGNC Symbol;Acc:HGNC:7882]
Coordinates
chr1:119928976-119935604:-
Coord C1 exon
chr1:119935472-119935604
Coord A exon
chr1:119929213-119935471
Coord C2 exon
chr1:119928976-119929212
Length
6259 bp
Sequences
Splice sites
5' ss Seq
GGGGTATGA
5' ss Score
5.41
3' ss Seq
ACCTCTTCTCTTTCCTCCAGGCC
3' ss Score
13.24
Exon sequences
Seq C1 exon
TGTGTCCCAGGCTATCAGGGTGTCAACTGTGAGTATGAAGTGGATGAGTGCCAGAATCAGCCCTGCCAGAATGGAGGCACCTGTATTGACCTTGTGAACCATTTCAAGTGCTCTTGCCCACCAGGCACTCGGG
Seq A exon
GTATGAAATCATCCTTATCCATTTTCCATCCAGGGCATTGTCTTAAGTTATAAATCCATTCTTAGTGTTCAGGGGATTTTATAAAATTAAAGATAGGAAGACTAGCTTCATTCCAAGCATTTAGTTCTACATCCTAGTAATTCAAGCCATTTTATTCTCCCATCTCTTGCTAGCTCTGATGTTGTGGTTTATGTTGTCAGTTTTATCTGGTTGTTTGGCATCTTGATATTCCATGAAACACAGAATATGGAAGGGATACAACATTAGCATAACATTAAAAAATTAGCCTGGTCAGTAAGATTTCTTGTTGCTTCACAGAAAAGCAACTAATGGCCTCTAAAATAAACAATTTACATTTACCTGCTTTTGTATTTTTTTAATTAGCCAAGTCTTACCTCTATAAGGTGGGGGAATGAATGAAATGAAAATATCTGCCTATTTTCATAGCTTCAGGGGAGGATACTGATGGTGTAAGGTTCTACCTTAGGATGCAGTAAGGCCTGATGAGAGATGCAACCCTGGACTGTTGAGTGATGGGGCCATCATTCTTCTGTGGGCATTGCCACTGCTTTTGAACTGAGTGGTATGGCCATCATTCTGCTGTGGACATTGACACTGCTTTTGAACCATCCCTTGGAAAGAGCTTTGAGTATTGTTTGTTAGAAGGGATGTAGTTATGCTGGGGCCTACTCTGAGAAGGCTGTGAAAAAAATGTAAAAGGCCATCCACACTGGTGAGAAATTCATCCTTGTTAGTGTCAAAGAGAATAGAATGCCAGAGAAGTATTTGTATTGCCTTAGAGCTTTGTGTCAGTAAAGTTTGATAATTTGCCACCCCAGGTATCAGAGTTTGACTAAATTAAAATAGGAGAGTACCCTAGTAGTAGGCTGATTATTAAGGAATGAGGTTAATGGGAAGAAGAAAACTAAGGAGAAACAGTCTTTAAGTATTTGAAGAATTGTCCTGTAAAAAGGAGAATTGTTCTTTATTCTAGAAATCAGTGGTTGAGTAGAAATTAATTCCAGTTCATTGTTAGTTTGTTCCTTTGAGAAACTGTACTGGTTAGGACAAGCTACGATTCTGGTGATAGCTGTTATCGTAGTTCATTTATGTTGCTATAAAAGAATACCTGAGACTAAGTAATTTATTTTTCGAAAGAGGTATATTTGGCTCGCAGTTCTATAGGCTGTACAGGAAGCACGGTGCCAGCATCTGCCTCTGGTGTGAGCGTCAGGCTGTTTCCACTCATGGTGAAAAGTGAAGAAGATCCAGGGACCCAAACACCTCCCATTAGGCCCCACCTCCAACATTGGAGATCACATTTTAACATGTGGTTTGGTGCAGTCAAACTTCAAGCTATAGCAGCTAATTAAACCTCAAATCTCAGAGCTTAATATAACACTGATTTTGTCACTCAAATAAAGTCGAATATGTGTTGGGCTACCTTTCTCTGTGTTTTAGATATGTGGTTTGAAACACCTGGCCTCCAAGGCCTCCACAGTACAGGGAAGAGGGACAGACTTGAAGGGTCATACAGCAGCTTCCACTAGCTCAGTCTGGAAGCAACACATATCACTATCCCTCGCAGTATATTGACCGGAATTATTAAATGGTCTCTGTGACTTCAAGGGAGGCTGGGAAATATAGGAGAGTACATGAGTATTCATCAAACTCTAAAATCACTACTATACCATGAACTTTTAATTAATAAGACATGTCCAGTCCTAGAATGGATCATTTCAGAAGGAAACAAAATTTTTGTCTCTTCTAACCATATGGTAAAGATGGCTTAGAATACTAGTTTTGATATTATCATTGACAGTCTTTTTCTTTCAGCACTTTGAATATATCATCCCACTGCTTTCTGATATCCATGGTTTTTAATGAGAAATATGCTGTTAATCTTATTGAGGTTCCCTTATATGTGATACATTGCTTCTTTCTTGATGCCTTCAAGATTCTTTATCTTTTGATAGTTTGATTATGATGTATGTAGGTATGAATTTCTTTGAGTTTATCCTACTTACAGTTCCTTGGATTATTTTACTGTGTGTGCTTGTTTAGGTATGTGGAACAGTATTTTTTTATCCTGACTTAACTTCTCTGGCCATTGGTAAACATTCCAGGAAACTCTCAAGTCCCATAACCCCATTGTTAGAGTCATCACAATGTGTGTTTTGGTCACCATATTTCTAAGCCTTAGATCTTTGCCTGCATGTCCCACCAGTTTCCCAGGTCAAGGGCTAAATGTAACAGTTCTGCCTCTTCCTACTACTTTGCTTCAGGCTGAGGTTGAGTTCTCTCTCAGTTGATAGATCTGTTTATTTCTGGTGGTTCCATTCTGATGGGGAAATATGCATTTATGCTCATTTTACTAGCAATCCCTAAATATCAAATATTCTTTGAGACAGGGAGCATATACTAGATTTTGTTTGTTTTTACTTTTTTGTTTTCAATTTACTCTATGTATAAGGTGATATATGCATATATGCATATAGACCAAAAGTGTATTCACACATAGAAAAGTATACAGTGAAAATACTTCTCATTCCCATCTCTCTTCTGGTGGGCAAATTTTCCCTCTCCTGCAAACATGTAATCGCCACTTTTGGTTGTTTGTGTTTCTTTCTAGAATTTTTCAAAAACTGTATCCTTCAGAATTTCTTTATGTAGAGAGAAGCCAAATGCAAAGATATTTTATTTCCTTTACTTTTTACTCTGAAGATAGAATATTAGACACATTTTTTGCACTTGATTTTTTTTTACTTAATTGGAGATATTTTCATATCAAAATATAGAACTTCCTCTCTCTCTCTCTGAGATAGATAGATAGATAGATAGATAGATAGATAGATAGATAGATATTTGTTTGTTTGTTTGTTTTGAGATGGAGTTTTGCTCTTGTTGCCCAGGCTGGAGTGCAATGGTATGATCTCAGCTCACCGCAACCTCCGCCTCCTGGGTTCGAGTGATTTTCCTGCCTCAGCGCCCTGAGTAGCTGGGATTACAGGCATGTGCCACCATGCCTGGCTGATTTTGTATTTTTAATAGAGACAGGGTTTCTCCATGTTGGTCAGGCTGGTCTTGAACTCCTGGCCTCAAGCAATCCACCCGCCTCAGCCTCCCAAAGTGCTGGGATGACAGGCGTGAGCCACCACACCCAGCCTGAACTTCCTCAATATTTTTTATAGCTACAGAATTCCCTTTTACAGGCATACCATATTTTAACCAGTGCCATCATGATAGATATTTCAGTTATCTTGCAGGCATATAAGTATATTGGTGAAATAAATTTTCAGAAATAGAATCGCTGGATTGGATAATATGTGCATTTATCATTTTAATCAGTGATTGCAGTATATCAGCATATTGGCTTTTTCTTAAGGTGGAGAATATATTTTCATTTAAGAATCATTTTCTTTTGATTTTTTTTGCAGTTTCTTTGTTTATATATATATATATGTATATATACATATATATATATATACACACATATATCTTTTTTCCCACATTAAGTTGTTGATGTAATGTTTTGTGGAAATTGGCTATGATATAAAAAAACAAATATATTCCCAGTATTTTTTTATCTTTTTTCTTTATAGTGATTTTTAGTGCACACTTTTACTTTTTAATCAAGTTGAATTTATCACTTTTAAAATGGCTTCTGGATTTTGAGTTGTAGTTAGCAACATCATATACACTTGAAGATCGTAAAGAAATTCTCCCATATTTTCTTCAAGTACTTTTGCCATATGACTACTCATTTGTTAATACACAATTTATTGAATATTTTGTTTTTTATATATATAATGATTTGAGATGGCACCTTTGCCAGATTCTAAATTCCCATGTGTATTTTTGGTGTTCTTCTGGATTTTCTTTATTTTCTGTGTTATTCTATTAATTCACCAATAACGTTCTATTTCAATTATTAAGGATCTTCTTCTTCATAGTTTTCCTGGTTATTTTTTTTCACATAATTTTATAATCAGCTTGTCTGTTAATAAATTCCTGTTGATAATTTTTAGTGGGGTCTCATTAAATTTATGAATTATAGTATAGAGAAAACTGATAACTTTATGATGAGGAGTCTTGCTAACCAAATCCTGGTATGTCTTTCCATTTATTCAAGTCTCTTTTGTGTCTGTTAGGACAGTATTAAAGTTGTCTTCATTTAGGTGTAACACATTTCTTGTGAAGATTGTTCCTAGGTATTTTATCTTTGGTAATTTGGTAATTGCTTTTGAAAATTGGGCCTTACTTTACATTTAAAAAAAAAAATCTTGCTTTTGTTAGTGTATGCTACAATGCAAGTGGCAGGAATACATACAGAACTGTTTTCTTTTGTACCTTTTTTTTTTTTTTTTTTAAGACAGAGTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTAGCGCAATCTCGGCTTACTGCAAGCTCCACCTCCCAGGTTCATGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAAGCGCCCGCCACCATGCCTGGCTAATTTTTTTTTTGTATTTTTTAGTGGAGACGGGGTTTCACCATGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCACCTGCCTTGGCCTCCCAGAGTGCTGGGATTACAGGCTTGAGCCACTGCACCCAGCCTGTACCTTTTTTTTTAATTATGATTATTATTATTTTTTGAGACAGAGTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCATAACCTCGGCTCACTGCAAGCTTCATCTCCCGGTTTCAAGTGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGAGATTACAGACATGTACCACCACACGCAGCTAATTTTTGTATATTTAGTAGAGATGGGGTTTCACTGTGTTGGGCAGATTGGTCTTGAACTCCTGACCTCAAGTGATCCGCCTGCCTTAGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACTGTGCCCAGCCTCTTTTGTGCCTTTTTGAATTAATCATAGAATAATTTCTAGAATAGTCATTGATTTCTTTTGTTTCTTTGTAAGACACTATATGCAGATATTCATACTAGATGGCTCATTTACATCTATAGTACAATAAATTAGTCCTGTTTTAAATGGAATAACTTTTGAACTCTCAGCAGGAAATTTATCCTCTATTTTTGTTAAATAAAAAGCATTGGTGCACTTATACACTATTACAGAAAAAAGCCAGTGATTATAAAACTTAAAAATGTATTTCATTCAAAATTCAGTTCCAGTTGTTACCAATATTTTTACATAACCTATGTATAGTCATGGGTCACTTAACAGTGGGGATATGTTCTGAGAAATATGCCCTTAGGCAATTTCATTGTTGTACAATCATCATGGAGTGTAATTACACAAACAGAGAGAGTATGGCTTACTACACACCTAGGCTCCAAACCTGCACCTTGTTTTACTGAACTGAATATTGTAGGCAATTATAACACAATGGTAAGTATTTATGTGTCTGAACATATTTAAGAAGAGGTACAGTAGAAGATTTAAAAGGTACAGTAAAAATACAATATAAAAGATAAAAAATAGTACACCTGTATAGGGCATTTACTATGAAAGGAGCTTGCAAGACTGGAACTTGCTGGGTGAGTCAGTGAATGGTAAGTGAATGTGAAGGCCTAGGACATTACTGTACACTACTGCAGACTTTGTAAATACTGTACACCTAAGCTACACTGAATTTATTTAAAAAGTAATTGTGCTATGACATTACAAGGCTATGATGTTACTAGGCAACAGGAATTTGTCAGCTTCAGCTTCATTATGGGACCACTGTCGTATGTGCTGCCTGCATTGACTAAAATGTCATTATGCGGTTGCATAACTGTATTTATTGTTATGTTCTTTTTTGGACTGTTTTTATATTTTGGATTATACTTTGGAAAAATTACTGAGCCTCTCTTGAGCTCCAGTTTCCTTCTCTTTGAGATGGGACAAATAATAGGACCTACACCATAGGGTGCTACTTCACTGGATTGTGTGGGAGAGTACATGCGGAGCCCTAGTATGTTCTTTCCTTTACTTGTACAACTCACCAGGATGACAGCTGTCATGAATAAAGAGTGTGCTTTGCCCTGCCCAACTACAAGGTCCCACTACCAGTTGAGGAGTATACTCTGATTCATTGTGAAAATGCCAACAAGGGTGGTTATCCCTTGCTGGAAAGCAGGTTAAAAGGATTTTCATAATTCTGTACCTCTTCTCTTTCCTCCAG
Seq C2 exon
GCCTACTCTGTGAAGAGAACATTGATGACTGTGCCCGGGGTCCCCATTGCCTTAATGGTGGTCAGTGCATGGATAGGATTGGAGGCTACAGTTGTCGCTGCTTGCCTGGCTTTGCTGGGGAGCGTTGTGAGGGAGACATCAACGAGTGCCTCTCCAACCCCTGCAGCTCTGAGGGCAGCCTGGACTGTATACAGCTCACCAATGACTACCTGTGTGTTTGCCGTAGTGCCTTTACTG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000134250:ENST00000256646:22
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(25.8=17.8),PF0000822=EGF=PU(90.3=62.2)
A:
NA
C2:
PF0000822=EGF=PD(6.5=2.5),PF0000822=EGF=WD(100=40.0)
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:
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