HsaINT0114854 @ hg19
Intron Retention
Gene
ENSG00000134250 | NOTCH2
Description
notch 2 [Source:HGNC Symbol;Acc:7882]
Coordinates
chr1:120471599-120478227:-
Coord C1 exon
chr1:120478095-120478227
Coord A exon
chr1:120471836-120478094
Coord C2 exon
chr1:120471599-120471835
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-NOTCH2:NM_024408:22
Average complexity
IR-C
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
Other AS DBs:
FasterDB (Includes CLIP-seq data)
AS-ALPS (AS-induced ALteration of Protein Structure, links to PINs)
APPRIS (Selection of principal isoform)
DEU primates (Only for human)